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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
LOXL4	84171	broad.mit.edu	36	10	100003388	100003388	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:100003388G>A	uc001kpa.1	-	c.1747C>T	c.(1747-1749)CGC>TGC	p.R583C		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	583	Lysyl-oxidase like.				oxidation-reduction process	extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)	4		Colorectal(252;0.234)												0.459854	167.995724	168.189001	63	74	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	Missense_Mutation	SNP	100003388	100003388	9275	10	G	A	A	38	38	LOXL4	A	1	1
PYROXD2	84795	broad.mit.edu	36	10	100140444	100140444	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:100140444G>A	uc001kpc.1	-	c.1193C>T	c.(1192-1194)CCG>CTG	p.P398L	PYROXD2_uc001kpb.1_Non-coding_Transcript|PYROXD2_uc001kpd.1_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	hypothetical protein LOC84795	398					oxidation-reduction process		oxidoreductase activity			central_nervous_system(1)	1														0.425926	71.417505	71.675706	23	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100140444	100140444	13325	10	G	A	A	39	39	PYROXD2	A	1	1
PYROXD2	84795	broad.mit.edu	36	10	100142734	100142734	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:100142734G>A	uc001kpc.1	-	c.882C>T	c.(880-882)ATC>ATT	p.I294I	PYROXD2_uc001kpb.1_Non-coding_Transcript|PYROXD2_uc001kpd.1_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	hypothetical protein LOC84795	294					oxidation-reduction process		oxidoreductase activity			central_nervous_system(1)	1														0.447853	203.356932	203.741899	73	90	GG		KEEP	---	---	---	---	capture			Silent	SNP	100142734	100142734	13325	10	G	A	A	37	37	PYROXD2	A	1	1
PYROXD2	84795	broad.mit.edu	36	10	100145018	100145018	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:100145018G>T	uc001kpc.1	-	c.710C>A	c.(709-711)TCT>TAT	p.S237Y	PYROXD2_uc001kpb.1_Non-coding_Transcript|PYROXD2_uc001kpd.1_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	hypothetical protein LOC84795	237					oxidation-reduction process		oxidoreductase activity			central_nervous_system(1)	1														0.19322	94.969873	120.940651	57	238	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100145018	100145018	13325	10	G	T	T	33	33	PYROXD2	T	3	3
CNNM1	26507	broad.mit.edu	36	10	101080233	101080233	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101080233G>A	uc001kpp.2	+	c.1099G>A	c.(1099-1101)GCA>ACA	p.A367T	CNNM1_uc009xwe.1_Missense_Mutation_p.A367T|CNNM1_uc009xwf.1_Missense_Mutation_p.A367T	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	367					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)												0.25	8.191226	9.101405	4	12	GG		KEEP	---	---	---	---	capture		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	Missense_Mutation	SNP	101080233	101080233	3750	10	G	A	A	42	42	CNNM1	A	2	2
SLC25A28	81894	broad.mit.edu	36	10	101360663	101360663	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101360663C>A	uc001kpx.2	-	c.1028G>T	c.(1027-1029)TGG>TTG	p.W343L	SLC25A28_uc001kpy.2_Missense_Mutation_p.W156L	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	343	Helical; Name=6; (Potential).|Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)												0.206573	90.469758	107.480435	44	169	CC		KEEP	---	---	---	---	capture		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	Missense_Mutation	SNP	101360663	101360663	14988	10	C	A	A	21	21	SLC25A28	A	3	3
COX15	1355	broad.mit.edu	36	10	101477205	101477205	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101477205T>G	uc001kqb.2	-	c.378A>C	c.(376-378)CAA>CAC	p.Q126H	COX15_uc001kqc.2_Missense_Mutation_p.Q126H	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	126					heme a biosynthetic process|mitochondrial electron transport, cytochrome c to oxygen|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)												0.383085	253.944451	256.347716	77	124	TT		KEEP	---	---	---	---	capture		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	Missense_Mutation	SNP	101477205	101477205	3902	10	T	G	G	52	52	COX15	G	4	4
ABCC2	1244	broad.mit.edu	36	10	101553830	101553830	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101553830C>A	uc001kqf.2	+	c.1274C>A	c.(1273-1275)TCT>TAT	p.S425Y		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	425	Cytoplasmic (By similarity).|ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)			Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)									0.433155	217.823857	218.556165	81	106	CC		KEEP	---	---	---	---	capture		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Missense_Mutation	SNP	101553830	101553830	54	10	C	A	A	32	32	ABCC2	A	3	3
DNMBP	23268	broad.mit.edu	36	10	101658831	101658831	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101658831C>T	uc001kqj.2	-	c.2323G>A	c.(2323-2325)GAA>AAA	p.E775K	DNMBP_uc001kqg.2_Missense_Mutation_p.E63K|DNMBP_uc001kqh.2_Missense_Mutation_p.E407K	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	775					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)	5		Colorectal(252;0.234)												0.4375	153.525741	153.951042	56	72	CC		KEEP	---	---	---	---	capture		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	Missense_Mutation	SNP	101658831	101658831	4857	10	C	T	T	31	31	DNMBP	T	1	1
DNMBP	23268	broad.mit.edu	36	10	101705227	101705227	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101705227C>T	uc001kqj.2	-	c.1994G>A	c.(1993-1995)CGA>CAA	p.R665Q	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	665					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)	5		Colorectal(252;0.234)												0.514019	157.412427	157.430331	55	52	CC		KEEP	---	---	---	---	capture		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	Missense_Mutation	SNP	101705227	101705227	4857	10	C	T	T	31	31	DNMBP	T	1	1
CPN1	1369	broad.mit.edu	36	10	101825713	101825713	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101825713C>T	uc001kql.2	-	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	122	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)												0.230769	66.330748	75.814398	33	110	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	Missense_Mutation	SNP	101825713	101825713	3947	10	C	T	T	27	27	CPN1	T	1	1
CHUK	1147	broad.mit.edu	36	10	101950490	101950490	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101950490G>T	uc001kqp.1	-	c.1607C>A	c.(1606-1608)TCT>TAT	p.S536Y		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	536					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)				Ovarian(159;52 1904 10536 35305 37148)				415				0.134615	19.688228	40.082886	21	135	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Missense_Mutation	SNP	101950490	101950490	3550	10	G	T	T	33	33	CHUK	T	3	3
CWF19L1	55280	broad.mit.edu	36	10	102006224	102006224	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102006224C>A	uc001kqq.1	-	c.290_splice	c.e5-1	p.G97_splice	CWF19L1_uc001kqr.1_Splice_Site_SNP_p.G97_splice|CWF19L1_uc001kqs.1_Intron|CWF19L1_uc001kqt.1_Intron	NM_018294	NP_060764			CWF19-like 1, cell cycle control								catalytic activity				0		Colorectal(252;0.117)												0.390244	168.247144	169.982424	64	100	CC		KEEP	---	---	---	---	capture		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	Splice_Site_SNP	SNP	102006224	102006224	4231	10	C	A	A	24	24	CWF19L1	A	5	3
PKD2L1	9033	broad.mit.edu	36	10	102038770	102038770	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102038770C>T	uc001kqx.1	-	c.2284G>A	c.(2284-2286)GCC>ACC	p.A762T	BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Missense_Mutation_p.A715T	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	762	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)												0.467742	177.038834	177.151097	58	66	CC		KEEP	---	---	---	---	capture		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	Missense_Mutation	SNP	102038770	102038770	12392	10	C	T	T	28	28	PKD2L1	T	2	2
PKD2L1	9033	broad.mit.edu	36	10	102046040	102046040	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102046040C>A	uc001kqx.1	-	c.1186_splice	c.e7-1	p.L396_splice	PKD2L1_uc009xwm.1_Splice_Site_SNP_p.L349_splice	NM_016112	NP_057196			polycystic kidney disease 2-like 1						signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)												0.235849	54.414089	61.183436	25	81	CC		KEEP	---	---	---	---	capture		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	Splice_Site_SNP	SNP	102046040	102046040	12392	10	C	A	A	28	28	PKD2L1	A	5	3
SCD	6319	broad.mit.edu	36	10	102106331	102106331	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102106331C>T	uc001kqy.1	+	c.700C>T	c.(700-702)CCC>TCC	p.P234S		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase	234	Helical; (Potential).				fatty acid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)				Colon(67;260 1459 9574 11663)				95				0.379845	135.440968	137.075631	49	80	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	Missense_Mutation	SNP	102106331	102106331	14367	10	C	T	T	26	26	SCD	T	2	2
SCD	6319	broad.mit.edu	36	10	102106403	102106403	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102106403C>T	uc001kqy.1	+	c.772C>T	c.(772-774)CTT>TTT	p.L258F		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase	258	Helical; (Potential).				fatty acid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)				Colon(67;260 1459 9574 11663)				95				0.41954	209.736044	210.721056	73	101	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	Missense_Mutation	SNP	102106403	102106403	14367	10	C	T	T	28	28	SCD	T	2	2
WNT8B	7479	broad.mit.edu	36	10	102228827	102228827	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102228827C>T	uc001krb.1	+	c.97C>T	c.(97-99)CCA>TCA	p.P33S		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family,	33					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|negative regulation of gene-specific transcription from RNA polymerase II promoter|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			large_intestine(1)|skin(1)	2		Colorectal(252;0.117)												0.16092	24.491207	34.013992	14	73	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	Missense_Mutation	SNP	102228827	102228827	17971	10	C	T	T	30	30	WNT8B	T	2	2
WNT8B	7479	broad.mit.edu	36	10	102229651	102229651	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102229651G>A	uc001krb.1	+	c.133G>A	c.(133-135)GCT>ACT	p.A45T		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family,	45					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|negative regulation of gene-specific transcription from RNA polymerase II promoter|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			large_intestine(1)|skin(1)	2		Colorectal(252;0.117)												0.264865	118.082133	127.334403	49	136	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	Missense_Mutation	SNP	102229651	102229651	17971	10	G	A	A	34	34	WNT8B	A	2	2
SEC31B	25956	broad.mit.edu	36	10	102248965	102248965	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102248965C>A	uc001krc.1	-	c.1526G>T	c.(1525-1527)AGT>ATT	p.S509I	SEC31B_uc001krd.1_Missense_Mutation_p.S46I|SEC31B_uc001kre.1_Missense_Mutation_p.S46I|SEC31B_uc001krf.1_Missense_Mutation_p.S46I|SEC31B_uc001krg.1_Missense_Mutation_p.S78I	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	509					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)												0.25	29.145829	32.103664	13	39	CC		KEEP	---	---	---	---	capture		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	Missense_Mutation	SNP	102248965	102248965	14485	10	C	A	A	20	20	SEC31B	A	3	3
SEC31B	25956	broad.mit.edu	36	10	102252007	102252007	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102252007G>T	uc001krc.1	-	c.1404C>A	c.(1402-1404)TTC>TTA	p.F468L	SEC31B_uc001krd.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001krg.1_Missense_Mutation_p.F37L	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	468					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)												0.442105	327.47478	328.310129	126	159	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	Missense_Mutation	SNP	102252007	102252007	14485	10	G	T	T	41	41	SEC31B	T	3	3
HIF1AN	55662	broad.mit.edu	36	10	102294771	102294771	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102294771C>A	uc001krj.2	+	c.651C>A	c.(649-651)ATC>ATA	p.I217I		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	hypoxia-inducible factor 1, alpha subunit	217	JmjC.|Interaction with HIF1A.|Interaction with VHL.				oxidation-reduction process|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|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)												0.159664	54.977793	81.263221	38	200	CC		KEEP	---	---	---	---	capture		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	Silent	SNP	102294771	102294771	7389	10	C	A	A	32	32	HIF1AN	A	3	3
FAM178A	55719	broad.mit.edu	36	10	102666426	102666426	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102666426A>G	uc001krs.2	+	c.294A>G	c.(292-294)GAA>GAG	p.E98E	FAM178A_uc001krr.1_Silent_p.E98E|FAM178A_uc001krt.2_Silent_p.E98E|FAM178A_uc001kru.1_Silent_p.E34E	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	98											0														0.223301	61.578895	68.823519	23	80	AA		KEEP	---	---	---	---	capture			Silent	SNP	102666426	102666426	5709	10	A	G	G	4	4	FAM178A	G	4	4
FAM178A	55719	broad.mit.edu	36	10	102674416	102674416	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102674416C>T	uc001krs.2	+	c.1668C>T	c.(1666-1668)CCC>CCT	p.P556P	FAM178A_uc001krr.1_Silent_p.P556P|FAM178A_uc001krt.2_Silent_p.P556P|FAM178A_uc001kru.1_Silent_p.P491P	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	556											0														0.215909	130.945112	150.602277	57	207	CC		KEEP	---	---	---	---	capture			Silent	SNP	102674416	102674416	5709	10	C	T	T	22	22	FAM178A	T	2	2
SEMA4G	57715	broad.mit.edu	36	10	102728066	102728066	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102728066A>G	uc001krw.1	+	c.460A>G	c.(460-462)ACC>GCC	p.T154A	SEMA4G_uc001krv.2_Non-coding_Transcript|SEMA4G_uc001krx.2_Missense_Mutation_p.T154A|MRPL43_uc001kry.1_3'UTR	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	154	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)												0.22973	48.04022	52.992609	17	57	AA		KEEP	---	---	---	---	capture		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	Missense_Mutation	SNP	102728066	102728066	14522	10	A	G	G	2	2	SEMA4G	G	4	4
C10orf2	56652	broad.mit.edu	36	10	102739476	102739476	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102739476C>A	uc001ksf.1	+	c.1329C>A	c.(1327-1329)AGC>AGA	p.S443R	MRPL43_uc001kry.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.1_5'Flank|C10orf2_uc001ksg.1_Missense_Mutation_p.S443R|C10orf2_uc001ksh.1_Intron|C10orf2_uc001ksi.1_5'UTR	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle	443	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)												0.272321	142.583306	153.049593	61	163	CC		KEEP	---	---	---	---	capture		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	Missense_Mutation	SNP	102739476	102739476	1634	10	C	A	A	28	28	C10orf2	A	3	3
PDZD7	79955	broad.mit.edu	36	10	102773324	102773324	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102773324G>A	uc001ksn.2	-	c.401C>T	c.(400-402)ACG>ATG	p.T134M	PDZD7_uc001kso.1_Missense_Mutation_p.T134M	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	134	PDZ 1.				response to stimulus|visual perception	cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)	2														0.457711	254.07565	254.388158	92	109	GG		KEEP	---	---	---	---	capture		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	Missense_Mutation	SNP	102773324	102773324	12125	10	G	A	A	40	40	PDZD7	A	1	1
KAZALD1	81621	broad.mit.edu	36	10	102814348	102814348	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102814348C>T	uc001ksr.1	+	c.773C>T	c.(772-774)GCC>GTC	p.A258V	KAZALD1_uc001kss.2_Non-coding_Transcript	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	258	Ig-like C2-type.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding				0														0.254237	69.198003	75.664713	30	88	CC		KEEP	---	---	---	---	capture		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	Missense_Mutation	SNP	102814348	102814348	8293	10	C	T	T	26	26	KAZALD1	T	2	2
KAZALD1	81621	broad.mit.edu	36	10	102814647	102814647	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102814647G>T	uc001ksr.1	+	c.895G>T	c.(895-897)GAG>TAG	p.E299*	KAZALD1_uc001kss.2_Non-coding_Transcript	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	299					cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding				0														0.428571	142.714571	143.277889	54	72	GG		KEEP	---	---	---	---	capture		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	Nonsense_Mutation	SNP	102814647	102814647	8293	10	G	T	T	33	33	KAZALD1	T	5	3
POLL	27343	broad.mit.edu	36	10	103334603	103334603	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103334603C>T	uc001ktg.1	-	c.637G>A	c.(637-639)GCC>ACC	p.A213T	POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Missense_Mutation_p.A213T|POLL_uc001ktj.1_Missense_Mutation_p.A213T|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc001ktl.1_Missense_Mutation_p.A125T|POLL_uc001ktm.1_Missense_Mutation_p.A213T	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	213					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)												0.225352	37.861762	42.782503	16	55	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	Missense_Mutation	SNP	103334603	103334603	12633	10	C	T	T	28	28	POLL	T	2	2
DPCD	25911	broad.mit.edu	36	10	103344471	103344471	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103344471C>T	uc001ktn.1	+	c.131C>T	c.(130-132)ACG>ATG	p.T44M		NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	44							protein binding				0														0.426036	196.35476	197.163846	72	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103344471	103344471	4895	10	C	T	T	19	19	DPCD	T	1	1
DPCD	25911	broad.mit.edu	36	10	103351081	103351081	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103351081G>T	uc001ktn.1	+	c.402G>T	c.(400-402)AAG>AAT	p.K134N		NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	134							protein binding				0														0.156489	57.988964	87.526325	41	221	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103351081	103351081	4895	10	G	T	T	33	33	DPCD	T	3	3
FBXW4	6468	broad.mit.edu	36	10	103362206	103362206	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103362206G>T	uc001kto.1	-	c.855C>A	c.(853-855)CAC>CAA	p.H285Q		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	285					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)												0.171053	100.401182	131.514399	52	252	GG		KEEP	---	---	---	---	capture		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	Missense_Mutation	SNP	103362206	103362206	6004	10	G	T	T	36	36	FBXW4	T	3	3
FBXW4	6468	broad.mit.edu	36	10	103423256	103423256	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103423256G>A	uc001kto.1	-	c.521C>T	c.(520-522)TCG>TTG	p.S174L		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	174	WD 1.				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)												0.421986	664.480352	667.466319	238	326	GG		KEEP	---	---	---	---	capture		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	Missense_Mutation	SNP	103423256	103423256	6004	10	G	A	A	37	37	FBXW4	A	1	1
MGEA5	10724	broad.mit.edu	36	10	103540739	103540739	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103540739C>T	uc001ktv.1	-	c.2358G>A	c.(2356-2358)GTG>GTA	p.V786V	MGEA5_uc001ktu.1_Non-coding_Transcript|MGEA5_uc009xws.1_Silent_p.V719V	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	786	Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)	2		Colorectal(252;0.207)												0.420233	290.445178	291.873457	108	149	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	Silent	SNP	103540739	103540739	9945	10	C	T	T	29	29	MGEA5	T	2	2
C10orf76	79591	broad.mit.edu	36	10	103761488	103761488	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103761488G>T	uc009xwy.1	-	c.813C>A	c.(811-813)TTC>TTA	p.F271L		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	271						integral to membrane					0		Colorectal(252;0.123)												0.29932	103.229366	108.528264	44	103	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	Missense_Mutation	SNP	103761488	103761488	1653	10	G	T	T	33	33	C10orf76	T	3	3
HPS6	79803	broad.mit.edu	36	10	103816191	103816191	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103816191C>T	uc001kuj.1	+	c.970C>T	c.(970-972)CTG>TTG	p.L324L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	324						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)												0.162037	58.082643	81.558966	35	181	CC		KEEP	---	---	---	---	capture		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	Silent	SNP	103816191	103816191	7635	10	C	T	T	32	32	HPS6	T	2	2
HPS6	79803	broad.mit.edu	36	10	103816461	103816461	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103816461C>T	uc001kuj.1	+	c.1240C>T	c.(1240-1242)CGG>TGG	p.R414W		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	414						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)												0.186747	53.960038	69.206931	31	135	CC		KEEP	---	---	---	---	capture		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	Missense_Mutation	SNP	103816461	103816461	7635	10	C	T	T	27	27	HPS6	T	1	1
LDB1	8861	broad.mit.edu	36	10	103857990	103857990	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103857990C>A	uc009xwz.1	-	c.1086G>T	c.(1084-1086)GAG>GAT	p.E362D	LDB1_uc001kuk.2_Missense_Mutation_p.E326D	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	362	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of hemoglobin biosynthetic process|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity|transcription elongation regulator activity|transcription repressor activity			large_intestine(1)	1		Colorectal(252;0.122)												0.358382	148.566768	151.636043	62	111	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	Missense_Mutation	SNP	103857990	103857990	9019	10	C	A	A	32	32	LDB1	A	3	3
LDB1	8861	broad.mit.edu	36	10	103860828	103860828	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103860828C>T	uc009xwz.1	-	c.237G>A	c.(235-237)CAG>CAA	p.Q79Q	LDB1_uc001kuk.2_Silent_p.Q43Q|LDB1_uc001kul.2_Silent_p.Q43Q	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	79					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of hemoglobin biosynthetic process|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity|transcription elongation regulator activity|transcription repressor activity			large_intestine(1)	1		Colorectal(252;0.122)												0.452128	249.537114	249.914026	85	103	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	Silent	SNP	103860828	103860828	9019	10	C	T	T	32	32	LDB1	T	2	2
PPRC1	23082	broad.mit.edu	36	10	103890808	103890808	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103890808G>A	uc001kum.1	+	c.2553G>A	c.(2551-2553)GAG>GAA	p.E851E	PPRC1_uc001kun.1_Silent_p.E731E|PPRC1_uc009xxa.1_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	851	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)												0.203463	99.07595	117.95728	47	184	GG		KEEP	---	---	---	---	capture		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	Silent	SNP	103890808	103890808	12846	10	G	A	A	33	33	PPRC1	A	2	2
PPRC1	23082	broad.mit.edu	36	10	103890969	103890969	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103890969C>A	uc001kum.1	+	c.2714C>A	c.(2713-2715)TCT>TAT	p.S905Y	PPRC1_uc001kun.1_Missense_Mutation_p.S785Y|PPRC1_uc009xxa.1_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	905	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)												0.477366	307.999108	308.111396	116	127	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	Missense_Mutation	SNP	103890969	103890969	12846	10	C	A	A	32	32	PPRC1	A	3	3
NOLC1	9221	broad.mit.edu	36	10	103909987	103909987	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103909987T>C	uc001kup.2	+	c.1026T>C	c.(1024-1026)AGT>AGC	p.S342S	NOLC1_uc001kuo.2_Silent_p.S332S|NOLC1_uc001kuq.2_Silent_p.S333S|NOLC1_uc009xxb.1_Silent_p.S51S|NOLC1_uc001kur.2_Silent_p.S51S	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	332	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.|Acidic serine cluster 6.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)												0.258065	134.208827	144.083048	48	138	TT		KEEP	---	---	---	---	capture		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	Silent	SNP	103909987	103909987	10932	10	T	C	C	60	60	NOLC1	C	4	4
NOLC1	9221	broad.mit.edu	36	10	103911936	103911936	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103911936A>C	uc001kup.2	+	c.2050A>C	c.(2050-2052)AAA>CAA	p.K684Q	NOLC1_uc001kuo.2_Missense_Mutation_p.K674Q|NOLC1_uc001kuq.2_Missense_Mutation_p.K675Q|NOLC1_uc009xxb.1_Missense_Mutation_p.K393Q|NOLC1_uc001kur.2_Missense_Mutation_p.K393Q	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	674					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)												0.20384	346.911598	401.992062	138	539	AA		KEEP	---	---	---	---	capture		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	Missense_Mutation	SNP	103911936	103911936	10932	10	A	C	C	9	9	NOLC1	C	4	4
GBF1	8729	broad.mit.edu	36	10	104093831	104093831	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104093831G>A	uc001kux.1	+	c.197G>A	c.(196-198)CGA>CAA	p.R66Q	GBF1_uc001kuw.2_Missense_Mutation_p.R66Q|GBF1_uc001kuy.1_Missense_Mutation_p.R66Q|GBF1_uc001kuz.1_Missense_Mutation_p.R66Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	66					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)												0.382353	316.422416	320.127998	117	189	GG		KEEP	---	---	---	---	capture		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	Missense_Mutation	SNP	104093831	104093831	6537	10	G	A	A	37	37	GBF1	A	1	1
GBF1	8729	broad.mit.edu	36	10	104110018	104110018	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104110018A>C	uc001kux.1	+	c.1265A>C	c.(1264-1266)AAC>ACC	p.N422T	GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.N422T|GBF1_uc001kuz.1_Missense_Mutation_p.N423T	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	422					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)												0.476562	1455.850085	1456.271634	427	469	AA		KEEP	---	---	---	---	capture		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	Missense_Mutation	SNP	104110018	104110018	6537	10	A	C	C	2	2	GBF1	C	4	4
GBF1	8729	broad.mit.edu	36	10	104116153	104116153	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104116153G>A	uc001kux.1	+	c.2330G>A	c.(2329-2331)CGA>CAA	p.R777Q	GBF1_uc001kuy.1_Missense_Mutation_p.R777Q|GBF1_uc001kuz.1_Missense_Mutation_p.R778Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	777	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)												0.434978	269.134064	269.956655	97	126	GG		KEEP	---	---	---	---	capture		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	Missense_Mutation	SNP	104116153	104116153	6537	10	G	A	A	37	37	GBF1	A	1	1
GBF1	8729	broad.mit.edu	36	10	104119469	104119469	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104119469C>T	uc001kux.1	+	c.3159C>T	c.(3157-3159)TTC>TTT	p.F1053F	GBF1_uc001kuy.1_Silent_p.F1053F|GBF1_uc001kuz.1_Silent_p.F1054F	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1053					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)												0.546099	223.861114	224.119434	77	64	CC		KEEP	---	---	---	---	capture		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	Silent	SNP	104119469	104119469	6537	10	C	T	T	31	31	GBF1	T	1	1
GBF1	8729	broad.mit.edu	36	10	104130977	104130977	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104130977G>T	uc001kux.1	+	c.5274G>T	c.(5272-5274)GAG>GAT	p.E1758D	GBF1_uc001kuy.1_Missense_Mutation_p.E1754D|GBF1_uc001kuz.1_Missense_Mutation_p.E1755D	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1758	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)												0.163462	24.199345	35.406588	17	87	GG		KEEP	---	---	---	---	capture		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	Missense_Mutation	SNP	104130977	104130977	6537	10	G	T	T	33	33	GBF1	T	3	3
NFKB2	4791	broad.mit.edu	36	10	104150175	104150175	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104150175C>A	uc001kvb.1	+	c.1735C>A	c.(1735-1737)CGT>AGT	p.R579S	NFKB2_uc001kva.1_Missense_Mutation_p.R579S|NFKB2_uc001kvd.1_Missense_Mutation_p.R579S|NFKB2_uc009xxc.1_Missense_Mutation_p.R579S	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	579	ANK 3.				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				0		Colorectal(252;0.00957)								140				0.483516	141.310349	141.330962	44	47	CC		KEEP	---	---	---	---	capture		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Missense_Mutation	SNP	104150175	104150175	10776	10	C	A	A	27	27	NFKB2	A	3	3
PSD	5662	broad.mit.edu	36	10	104162191	104162191	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104162191G>A	uc001kvg.1	-	c.1685C>T	c.(1684-1686)GCC>GTC	p.A562V	PSD_uc001kvh.1_Missense_Mutation_p.A183V|PSD_uc009xxd.1_Missense_Mutation_p.A562V	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	562	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3														0.173228	35.602332	48.393276	22	105	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	Missense_Mutation	SNP	104162191	104162191	13099	10	G	A	A	42	42	PSD	A	2	2
TMEM180	79847	broad.mit.edu	36	10	104220490	104220490	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104220490G>A	uc001kvt.1	+	c.330G>A	c.(328-330)GCG>GCA	p.A110A	TMEM180_uc001kvs.2_Intron|TMEM180_uc001kvu.2_Silent_p.A110A	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	110	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)												0.444	292.17594	292.840514	111	139	GG		KEEP	---	---	---	---	capture		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Silent	SNP	104220490	104220490	16633	10	G	A	A	38	38	TMEM180	A	1	1
SUFU	51684	broad.mit.edu	36	10	104343389	104343389	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104343389G>A	uc001kvy.1	+	c.604G>A	c.(604-606)GGT>AGT	p.G202S	SUFU_uc001kvw.1_Missense_Mutation_p.G202S|SUFU_uc001kvx.2_Missense_Mutation_p.G202S	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	202					negative regulation of gene-specific transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|specific transcriptional repressor activity|transcription corepressor activity|transcription factor binding			central_nervous_system(3)|skin(2)	5		Colorectal(252;0.207)								185				0.414365	207.870322	209.034136	75	106	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	Missense_Mutation	SNP	104343389	104343389	15888	10	G	A	A	47	47	SUFU	A	2	2
SUFU	51684	broad.mit.edu	36	10	104376934	104376934	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104376934G>A	uc001kvy.1	+	c.1309G>A	c.(1309-1311)GAA>AAA	p.E437K	SUFU_uc009xxe.1_Non-coding_Transcript|SUFU_uc009xxf.1_Non-coding_Transcript	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	437					negative regulation of gene-specific transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|specific transcriptional repressor activity|transcription corepressor activity|transcription factor binding			central_nervous_system(3)|skin(2)	5		Colorectal(252;0.207)								185				0.230769	192.927541	217.975306	87	290	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	Missense_Mutation	SNP	104376934	104376934	15888	10	G	A	A	37	37	SUFU	A	1	1
TRIM8	81603	broad.mit.edu	36	10	104394565	104394565	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104394565G>A	uc001kvz.2	+	c.201G>A	c.(199-201)AAG>AAA	p.K67K		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	67						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)												0.18	18.444126	23.259925	9	41	GG		KEEP	---	---	---	---	capture		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Silent	SNP	104394565	104394565	17098	10	G	A	A	33	33	TRIM8	A	2	2
CYP17A1	1586	broad.mit.edu	36	10	104580518	104580518	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104580518G>A	uc001kwg.1	-	c.1458C>T	c.(1456-1458)ATC>ATT	p.I486I	C10orf26_uc009xxg.1_Non-coding_Transcript	NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	486					androgen biosynthetic process|glucocorticoid biosynthetic process|oxidation-reduction process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)			NADH(DB00157)|Progesterone(DB00396)				p.I486I(NALM6-Tumor)	154				0.44186	54.018101	54.144857	19	24	GG		KEEP	---	---	---	---	capture		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Silent	SNP	104580518	104580518	4312	10	G	A	A	37	37	CYP17A1	A	1	1
CYP17A1	1586	broad.mit.edu	36	10	104586920	104586920	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104586920G>T	uc001kwg.1	-	c.189C>A	c.(187-189)ATC>ATA	p.I63I		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	63					androgen biosynthetic process|glucocorticoid biosynthetic process|oxidation-reduction process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)			NADH(DB00157)|Progesterone(DB00396)					154				0.42963	307.224149	308.395938	116	154	GG		KEEP	---	---	---	---	capture		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Silent	SNP	104586920	104586920	4312	10	G	T	T	33	33	CYP17A1	T	3	3
CNNM2	54805	broad.mit.edu	36	10	104806673	104806673	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104806673C>T	uc001kwm.1	+	c.2035C>T	c.(2035-2037)CGC>TGC	p.R679C	CNNM2_uc001kwn.1_Missense_Mutation_p.R679C	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	679					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)												0.196653	82.562564	103.094713	47	192	CC		KEEP	---	---	---	---	capture		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Missense_Mutation	SNP	104806673	104806673	3751	10	C	T	T	27	27	CNNM2	T	1	1
CNNM2	54805	broad.mit.edu	36	10	104818394	104818394	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104818394G>T	uc001kwm.1	+	c.2092G>T	c.(2092-2094)GCT>TCT	p.A698S	CNNM2_uc001kwn.1_Missense_Mutation_p.A698S	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	698					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)												0.285714	26.179403	27.912734	12	30	GG		KEEP	---	---	---	---	capture		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Missense_Mutation	SNP	104818394	104818394	3751	10	G	T	T	34	34	CNNM2	T	3	3
NT5C2	22978	broad.mit.edu	36	10	104839559	104839559	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104839559C>A	uc001kwo.1	-	c.1546G>T	c.(1546-1548)GAC>TAC	p.D516Y	NT5C2_uc001kwp.1_Missense_Mutation_p.D363Y|NT5C2_uc001kwq.1_Missense_Mutation_p.D516Y	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	516					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)			Adenosine triphosphate(DB00171)|Ribavirin(DB00811)									0.482587	264.43502	264.489188	97	104	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Missense_Mutation	SNP	104839559	104839559	11092	10	C	A	A	32	32	NT5C2	A	3	3
NT5C2	22978	broad.mit.edu	36	10	104839628	104839628	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104839628T>C	uc001kwo.1	-	c.1477A>G	c.(1477-1479)ACA>GCA	p.T493A	NT5C2_uc001kwp.1_Missense_Mutation_p.T340A|NT5C2_uc001kwq.1_Missense_Mutation_p.T493A	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	493					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)			Adenosine triphosphate(DB00171)|Ribavirin(DB00811)									0.172131	39.706056	52.094118	21	101	TT		KEEP	---	---	---	---	capture		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Missense_Mutation	SNP	104839628	104839628	11092	10	T	C	C	59	59	NT5C2	C	4	4
TAF5	6877	broad.mit.edu	36	10	105133005	105133005	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105133005G>T	uc001kwv.1	+	c.1555G>T	c.(1555-1557)GAA>TAA	p.E519*		NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	519					histone acetylation|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	promoter binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)												0.283333	79.488285	84.555503	34	86	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	Nonsense_Mutation	SNP	105133005	105133005	16049	10	G	T	T	33	33	TAF5	T	5	3
PDCD11	22984	broad.mit.edu	36	10	105164077	105164077	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105164077G>T	uc001kwy.1	+	c.1371G>T	c.(1369-1371)AAG>AAT	p.K457N		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	457	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)								545				0.48913	128.465465	128.475058	45	47	GG		KEEP	---	---	---	---	capture		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	Missense_Mutation	SNP	105164077	105164077	12038	10	G	T	T	35	35	PDCD11	T	3	3
PDCD11	22984	broad.mit.edu	36	10	105168376	105168376	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105168376C>T	uc001kwy.1	+	c.2101C>T	c.(2101-2103)CGT>TGT	p.R701C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	701	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)								545				0.444444	110.710849	110.947923	40	50	CC		KEEP	---	---	---	---	capture		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	Missense_Mutation	SNP	105168376	105168376	12038	10	C	T	T	27	27	PDCD11	T	1	1
GTPBP4	23560	broad.mit.edu	36	10	1051799	1051799	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1051799G>A	uc001ift.1	+	c.1715G>A	c.(1714-1716)CGA>CAA	p.R572Q	GTPBP4_uc001ifu.1_Non-coding_Transcript	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	572					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1		all_epithelial(10;0.107)|Colorectal(49;0.14)												0.222222	210.170551	242.726098	102	357	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	Missense_Mutation	SNP	1051799	1051799	7162	10	G	A	A	37	37	GTPBP4	A	1	1
PDCD11	22984	broad.mit.edu	36	10	105191598	105191598	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105191598C>T	uc001kwy.1	+	c.4583C>T	c.(4582-4584)GCG>GTG	p.A1528V		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1528					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)								545				0.242424	68.166833	76.133135	32	100	CC		KEEP	---	---	---	---	capture		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	Missense_Mutation	SNP	105191598	105191598	12038	10	C	T	T	27	27	PDCD11	T	1	1
CALHM2	51063	broad.mit.edu	36	10	105197128	105197128	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105197128C>T	uc001kwz.1	-	c.743G>A	c.(742-744)CGC>CAC	p.R248H	CALHM2_uc001kxa.1_Missense_Mutation_p.R248H|CALHM2_uc001kxc.1_3'UTR|CALHM2_uc001kxb.1_Missense_Mutation_p.R248H	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	248						integral to membrane					0														0.472362	256.345166	256.474871	94	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105197128	105197128	2699	10	C	T	T	27	27	CALHM2	T	1	1
CALHM1	255022	broad.mit.edu	36	10	105205436	105205436	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105205436A>G	uc001kxe.1	-	c.614T>C	c.(613-615)GTG>GCG	p.V205A	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	205						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1														0.494845	149.308033	149.310033	48	49	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105205436	105205436	2698	10	A	G	G	6	6	CALHM1	G	4	4
SH3PXD2A	9644	broad.mit.edu	36	10	105355601	105355601	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105355601C>T	uc001kxj.1	-	c.1288G>A	c.(1288-1290)GAA>AAA	p.E430K	SH3PXD2A_uc009xxn.1_Missense_Mutation_p.E265K	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	458	SH3 3.				cell communication	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)										OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.170732	48.598368	65.418427	28	136	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	Missense_Mutation	SNP	105355601	105355601	14748	10	C	T	T	31	31	SH3PXD2A	T	1	1
SLK	9748	broad.mit.edu	36	10	105752033	105752033	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105752033T>C	uc001kxo.1	+	c.1107T>C	c.(1105-1107)CGT>CGC	p.R369R	SLK_uc001kxp.1_Silent_p.R369R	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	369	Glu-rich.				apoptosis|nucleotide-excision repair|protein phosphorylation	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|lung(1)|kidney(1)	4		Colorectal(252;0.178)				NSCLC(111;540 1651 1927 4474 17706)				837				0.443804	518.242693	519.19059	154	193	TT		KEEP	---	---	---	---	capture		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	Silent	SNP	105752033	105752033	15246	10	T	C	C	57	57	SLK	C	4	4
SLK	9748	broad.mit.edu	36	10	105752930	105752930	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105752930A>C	uc001kxo.1	+	c.2004A>C	c.(2002-2004)GAA>GAC	p.E668D	SLK_uc001kxp.1_Missense_Mutation_p.E668D	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	668					apoptosis|nucleotide-excision repair|protein phosphorylation	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|lung(1)|kidney(1)	4		Colorectal(252;0.178)				NSCLC(111;540 1651 1927 4474 17706)				837				0.411111	222.324854	223.564668	74	106	AA		KEEP	---	---	---	---	capture		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	Missense_Mutation	SNP	105752930	105752930	15246	10	A	C	C	3	3	SLK	C	4	4
SLK	9748	broad.mit.edu	36	10	105760653	105760653	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105760653T>C	uc001kxo.1	+	c.2874T>C	c.(2872-2874)GCT>GCC	p.A958A	SLK_uc001kxp.1_Intron	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	958	Potential.				apoptosis|nucleotide-excision repair|protein phosphorylation	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|lung(1)|kidney(1)	4		Colorectal(252;0.178)				NSCLC(111;540 1651 1927 4474 17706)				837				0.1625	29.926826	38.586139	13	67	TT		KEEP	---	---	---	---	capture		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	Silent	SNP	105760653	105760653	15246	10	T	C	C	54	54	SLK	C	4	4
COL17A1	1308	broad.mit.edu	36	10	105790829	105790829	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105790829C>T	uc001kxr.1	-	c.2685G>A	c.(2683-2685)TCG>TCA	p.S895S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	895	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane				ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)												0.4375	190.621109	191.166131	70	90	CC		KEEP	---	---	---	---	capture		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	Silent	SNP	105790829	105790829	3812	10	C	T	T	19	19	COL17A1	T	1	1
COL17A1	1308	broad.mit.edu	36	10	105791063	105791063	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105791063G>A	uc001kxr.1	-	c.2635C>T	c.(2635-2637)CGA>TGA	p.R879*		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	879	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane				ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)												0.233766	136.35408	151.322859	54	177	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	Nonsense_Mutation	SNP	105791063	105791063	3812	10	G	A	A	39	39	COL17A1	A	5	1
COL17A1	1308	broad.mit.edu	36	10	105793583	105793583	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105793583G>A	uc001kxr.1	-	c.2424C>T	c.(2422-2424)ATC>ATT	p.I808I		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	808	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane				ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)												0.44	246.37077	246.997684	88	112	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	Silent	SNP	105793583	105793583	3812	10	G	A	A	37	37	COL17A1	A	1	1
IDI2	91734	broad.mit.edu	36	10	1058668	1058668	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1058668G>A	uc001ifv.1	-	c.190C>T	c.(190-192)CGA>TGA	p.R64*	C10orf110_uc001ifw.2_Non-coding_Transcript|C10orf110_uc001ifx.2_5'UTR|C10orf110_uc001ify.2_Non-coding_Transcript	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	64	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		Colorectal(49;0.235)												0.166667	31.432992	43.482089	19	95	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	Nonsense_Mutation	SNP	1058668	1058668	7800	10	G	A	A	37	37	IDI2	A	5	1
C10orf79	80217	broad.mit.edu	36	10	105890600	105890600	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105890600G>T	uc001kxw.1	-	c.4421C>A	c.(4420-4422)TCT>TAT	p.S1474Y	C10orf79_uc009xxq.1_Missense_Mutation_p.S753Y	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1474											0		Colorectal(252;0.178)												0.25	54.117377	59.80692	25	75	GG		KEEP	---	---	---	---	capture		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	Missense_Mutation	SNP	105890600	105890600	1655	10	G	T	T	33	33	C10orf79	T	3	3
C10orf79	80217	broad.mit.edu	36	10	105912122	105912122	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105912122C>T	uc001kxw.1	-	c.3276G>A	c.(3274-3276)TGG>TGA	p.W1092*	C10orf79_uc009xxq.1_Nonsense_Mutation_p.W400*	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1092											0		Colorectal(252;0.178)												0.285141	177.894008	188.231565	71	178	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	Nonsense_Mutation	SNP	105912122	105912122	1655	10	C	T	T	26	26	C10orf79	T	5	2
C10orf79	80217	broad.mit.edu	36	10	105916414	105916414	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105916414C>T	uc001kxw.1	-	c.2861G>A	c.(2860-2862)CGT>CAT	p.R954H	C10orf79_uc009xxq.1_Missense_Mutation_p.R262H	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	954	Potential.										0		Colorectal(252;0.178)												0.154822	92.923415	137.790908	61	333	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	Missense_Mutation	SNP	105916414	105916414	1655	10	C	T	T	19	19	C10orf79	T	1	1
C10orf79	80217	broad.mit.edu	36	10	105943619	105943619	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105943619G>A	uc001kxw.1	-	c.1437C>T	c.(1435-1437)CAC>CAT	p.H479H	C10orf79_uc001kxx.2_Silent_p.H480H|C10orf79_uc001kxy.1_Silent_p.H480H	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	479	WD 8.										0		Colorectal(252;0.178)												0.419355	104.900539	105.429665	39	54	GG		KEEP	---	---	---	---	capture		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	Silent	SNP	105943619	105943619	1655	10	G	A	A	40	40	C10orf79	A	1	1
C10orf79	80217	broad.mit.edu	36	10	105961853	105961853	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105961853C>T	uc001kxw.1	-	c.637G>A	c.(637-639)GTT>ATT	p.V213I	C10orf79_uc001kxx.2_Missense_Mutation_p.V213I|C10orf79_uc001kxy.1_Missense_Mutation_p.V213I|C10orf79_uc001kxz.2_Missense_Mutation_p.V213I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	213											0		Colorectal(252;0.178)												0.446541	185.660355	186.060379	71	88	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	Missense_Mutation	SNP	105961853	105961853	1655	10	C	T	T	19	19	C10orf79	T	1	1
GSTO1	9446	broad.mit.edu	36	10	106009522	106009522	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:106009522G>T	uc001kya.1	+	c.342G>T	c.(340-342)AAG>AAT	p.K114N		NM_004832	NP_004823	P78417	GSTO1_HUMAN	glutathione-S-transferase omega 1	114	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity				0		Colorectal(252;0.102)|Breast(234;0.122)			Glutathione(DB00143)									0.195652	62.669071	78.590981	36	148	GG		KEEP	---	---	---	---	capture		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Missense_Mutation	SNP	106009522	106009522	7122	10	G	T	T	33	33	GSTO1	T	3	3
GSTO1	9446	broad.mit.edu	36	10	106015860	106015860	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:106015860T>G	uc001kya.1	+	c.494T>G	c.(493-495)TTT>TGT	p.F165C	GSTO2_uc001kyb.1_5'Flank	NM_004832	NP_004823	P78417	GSTO1_HUMAN	glutathione-S-transferase omega 1	165	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity				0		Colorectal(252;0.102)|Breast(234;0.122)			Glutathione(DB00143)									0.2	151.051608	175.756651	59	236	TT		KEEP	---	---	---	---	capture		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Missense_Mutation	SNP	106015860	106015860	7122	10	T	G	G	64	64	GSTO1	G	4	4
CCDC147	159686	broad.mit.edu	36	10	106149226	106149226	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:106149226G>A	uc001kyh.1	+	c.1793G>A	c.(1792-1794)AGA>AAA	p.R598K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	598										ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.103)|Breast(234;0.122)												0.2	30.678953	36.960383	15	60	GG		KEEP	---	---	---	---	capture		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	Missense_Mutation	SNP	106149226	106149226	2901	10	G	A	A	33	33	CCDC147	A	2	2
CCDC147	159686	broad.mit.edu	36	10	106204249	106204249	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:106204249C>T	uc001kyh.1	+	c.2590C>T	c.(2590-2592)CCT>TCT	p.P864S		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	864										ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.103)|Breast(234;0.122)												0.2	124.406276	149.955115	61	244	CC		KEEP	---	---	---	---	capture		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	Missense_Mutation	SNP	106204249	106204249	2901	10	C	T	T	30	30	CCDC147	T	2	2
SORCS3	22986	broad.mit.edu	36	10	106889192	106889192	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:106889192G>T	uc001kyi.1	+	c.1260G>T	c.(1258-1260)GAG>GAT	p.E420D		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3	420	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)				NSCLC(116;1497 1690 7108 13108 14106)								0.238281	134.037822	150.064182	61	195	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	Missense_Mutation	SNP	106889192	106889192	15432	10	G	T	T	35	35	SORCS3	T	3	3
SORCS3	22986	broad.mit.edu	36	10	106960992	106960992	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:106960992G>A	uc001kyi.1	+	c.2369G>A	c.(2368-2370)AGC>AAC	p.S790N		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3	790	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)				NSCLC(116;1497 1690 7108 13108 14106)								0.508065	177.705675	177.712324	63	61	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	Missense_Mutation	SNP	106960992	106960992	15432	10	G	A	A	34	34	SORCS3	A	2	2
SORCS1	114815	broad.mit.edu	36	10	108379132	108379132	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:108379132T>C	uc001kyl.1	-	c.2480A>G	c.(2479-2481)GAT>GGT	p.D827G	SORCS1_uc001kym.1_Missense_Mutation_p.D827G|SORCS1_uc009xxs.1_Missense_Mutation_p.D827G|SORCS1_uc001kyn.1_Missense_Mutation_p.D827G|SORCS1_uc001kyo.2_Missense_Mutation_p.D827G	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	827	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)												0.44	73.14769	73.303687	22	28	TT		KEEP	---	---	---	---	capture		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	Missense_Mutation	SNP	108379132	108379132	15430	10	T	C	C	50	50	SORCS1	C	4	4
WDR37	22884	broad.mit.edu	36	10	1108122	1108122	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1108122G>A	uc009xhm.1	+	c.27G>A	c.(25-27)TCG>TCA	p.S9S	WDR37_uc001ige.2_Silent_p.S9S|WDR37_uc001igf.1_Silent_p.S9S|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_5'Flank	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	9											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)												0.23494	84.940649	95.611139	39	127	GG		KEEP	---	---	---	---	capture		Epithelial(11;0.134)	Silent	SNP	1108122	1108122	17864	10	G	A	A	37	37	WDR37	A	1	1
XPNPEP1	7511	broad.mit.edu	36	10	111623118	111623118	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:111623118C>T	uc009xxt.1	-	c.1377G>A	c.(1375-1377)GAG>GAA	p.E459E	XPNPEP1_uc001kyp.1_Silent_p.E440E|XPNPEP1_uc001kyq.1_Silent_p.E369E	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	440					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)												0.197279	123.86458	148.973638	58	236	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	Silent	SNP	111623118	111623118	18025	10	C	T	T	32	32	XPNPEP1	T	2	2
ADD3	120	broad.mit.edu	36	10	111873985	111873985	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:111873985C>A	uc001kyt.2	+	c.1364C>A	c.(1363-1365)TCT>TAT	p.S455Y	ADD3_uc001kys.2_Missense_Mutation_p.S455Y|ADD3_uc001kyu.1_Missense_Mutation_p.S455Y|ADD3_uc001kyv.1_Missense_Mutation_p.S455Y|ADD3_uc001kyw.1_Missense_Mutation_p.S455Y|ADD3_uc001kyx.1_Missense_Mutation_p.S28Y	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	455						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|large_intestine(1)	3		Breast(234;0.052)|Lung NSC(174;0.223)												0.426396	224.347757	225.282534	84	113	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	Missense_Mutation	SNP	111873985	111873985	307	10	C	A	A	32	32	ADD3	A	3	3
ADD3	120	broad.mit.edu	36	10	111876180	111876180	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:111876180C>T	uc001kyt.2	+	c.1537C>T	c.(1537-1539)CGA>TGA	p.R513*	ADD3_uc001kys.2_Nonsense_Mutation_p.R513*|ADD3_uc001kyu.1_Nonsense_Mutation_p.R513*|ADD3_uc001kyv.1_Nonsense_Mutation_p.R513*|ADD3_uc001kyw.1_Nonsense_Mutation_p.R513*|ADD3_uc001kyx.1_Nonsense_Mutation_p.R86*	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	513						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|large_intestine(1)	3		Breast(234;0.052)|Lung NSC(174;0.223)												0.209524	45.786474	53.99289	22	83	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	Nonsense_Mutation	SNP	111876180	111876180	307	10	C	T	T	31	31	ADD3	T	5	1
ADD3	120	broad.mit.edu	36	10	111883249	111883249	+	Silent	SNP	C	T	T	rs13306102	by-frequency,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:111883249C>T	uc001kyt.2	+	c.2004C>T	c.(2002-2004)ATC>ATT	p.I668I	ADD3_uc001kys.2_Silent_p.I636I|ADD3_uc001kyu.1_Silent_p.I668I|ADD3_uc001kyv.1_Silent_p.I668I|ADD3_uc001kyw.1_Silent_p.I636I|ADD3_uc001kyx.1_Silent_p.I241I	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	668						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|large_intestine(1)	3		Breast(234;0.052)|Lung NSC(174;0.223)												0.233463	131.363459	148.0824	60	197	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	Silent	SNP	111883249	111883249	307	10	C	T	T	31	31	ADD3	T	1	1
SMC3	9126	broad.mit.edu	36	10	112334007	112334007	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:112334007G>T	uc001kze.1	+	c.1168G>T	c.(1168-1170)GAA>TAA	p.E390*		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	390					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)	2		Breast(234;0.0848)|Lung NSC(174;0.238)												0.504202	332.266319	332.26965	120	118	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	Nonsense_Mutation	SNP	112334007	112334007	15282	10	G	T	T	33	33	SMC3	T	5	3
SMC3	9126	broad.mit.edu	36	10	112351813	112351813	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:112351813G>T	uc001kze.1	+	c.2992G>T	c.(2992-2994)GAA>TAA	p.E998*		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	998					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)	2		Breast(234;0.0848)|Lung NSC(174;0.238)												0.220994	81.689619	94.672459	40	141	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	Nonsense_Mutation	SNP	112351813	112351813	15282	10	G	T	T	33	33	SMC3	T	5	3
SHOC2	8036	broad.mit.edu	36	10	112761457	112761457	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:112761457G>T	uc009xxx.1	+	c.1640G>T	c.(1639-1641)AGT>ATT	p.S547I	SHOC2_uc001kzl.2_Missense_Mutation_p.S547I|SHOC2_uc001kzn.1_Missense_Mutation_p.S501I|SHOC2_uc001kzm.1_Missense_Mutation_p.S547I	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	547	LRR 20.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)	1														0.238095	155.836239	172.944321	65	208	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	Missense_Mutation	SNP	112761457	112761457	14782	10	G	T	T	36	36	SHOC2	T	3	3
GPAM	57678	broad.mit.edu	36	10	113905629	113905629	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:113905629C>A	uc009xxy.1	-	c.2294G>T	c.(2293-2295)AGA>ATA	p.R765I	GPAM_uc001kzp.2_Missense_Mutation_p.R765I|GPAM_uc001kzq.1_3'UTR	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	765	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)	1						Ovarian(161;1017 2606 18293 52943)								0.19774	66.212277	81.283476	35	142	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0306)|all cancers(201;0.123)	Missense_Mutation	SNP	113905629	113905629	6862	10	C	A	A	32	32	GPAM	A	3	3
GPAM	57678	broad.mit.edu	36	10	113918662	113918662	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:113918662C>T	uc009xxy.1	-	c.833G>A	c.(832-834)CGA>CAA	p.R278Q	GPAM_uc001kzp.2_Missense_Mutation_p.R278Q|GPAM_uc001kzq.1_Missense_Mutation_p.R278Q	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	278					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)	1						Ovarian(161;1017 2606 18293 52943)								0.504673	316.19052	316.194522	108	106	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0306)|all cancers(201;0.123)	Missense_Mutation	SNP	113918662	113918662	6862	10	C	T	T	31	31	GPAM	T	1	1
WDR37	22884	broad.mit.edu	36	10	1139551	1139551	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1139551G>A	uc009xhm.1	+	c.739G>A	c.(739-741)GAA>AAA	p.E247K	WDR37_uc001igf.1_Missense_Mutation_p.E246K|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	246											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)												0.454545	145.134052	145.332248	50	60	GG		KEEP	---	---	---	---	capture		Epithelial(11;0.134)	Missense_Mutation	SNP	1139551	1139551	17864	10	G	A	A	41	41	WDR37	A	2	2
TECTB	6975	broad.mit.edu	36	10	114043552	114043552	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:114043552C>A	uc001kzr.1	+	c.550C>A	c.(550-552)CTG>ATG	p.L184M		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta	184	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)												0.231156	94.835332	108.027433	46	153	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0143)|all cancers(201;0.0242)	Missense_Mutation	SNP	114043552	114043552	16275	10	C	A	A	32	32	TECTB	A	3	3
ACSL5	51703	broad.mit.edu	36	10	114144837	114144837	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:114144837C>A	uc001kzu.1	+	c.311C>A	c.(310-312)TCT>TAT	p.S104Y	ACSL5_uc001kzs.1_Missense_Mutation_p.S48Y|ACSL5_uc001kzt.1_Missense_Mutation_p.S48Y|ACSL5_uc009xxz.1_Missense_Mutation_p.S48Y	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	48	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)	2		Colorectal(252;0.117)|Breast(234;0.222)												0.244604	73.770774	82.040062	34	105	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0343)|all cancers(201;0.137)	Missense_Mutation	SNP	114144837	114144837	181	10	C	A	A	32	32	ACSL5	A	3	3
ACSL5	51703	broad.mit.edu	36	10	114154486	114154486	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:114154486C>A	uc001kzu.1	+	c.532C>A	c.(532-534)CTC>ATC	p.L178I	ACSL5_uc001kzs.1_Missense_Mutation_p.L122I|ACSL5_uc001kzt.1_Missense_Mutation_p.L122I|ACSL5_uc009xxz.1_Missense_Mutation_p.L122I	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	122	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)	2		Colorectal(252;0.117)|Breast(234;0.222)												0.234711	297.78601	336.789875	142	463	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0343)|all cancers(201;0.137)	Missense_Mutation	SNP	114154486	114154486	181	10	C	A	A	32	32	ACSL5	A	3	3
TCF7L2	6934	broad.mit.edu	36	10	114902110	114902110	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:114902110C>T	uc001lae.2	+	c.1190C>T	c.(1189-1191)GCG>GTG	p.A397V	TCF7L2_uc001lac.2_Missense_Mutation_p.A374V|TCF7L2_uc001lag.2_Missense_Mutation_p.A421V|TCF7L2_uc001lad.2_Missense_Mutation_p.A370V|TCF7L2_uc001laf.2_Missense_Mutation_p.A374V	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2	397	HMG box.				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 gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|pancreas development|positive regulation of gene-specific transcription from RNA polymerase II promoter|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|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|promoter binding|protein kinase binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)												0.386087	585.478198	592.027656	222	353	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.00554)|all cancers(201;0.02)	Missense_Mutation	SNP	114902110	114902110	16224	10	C	T	T	27	27	TCF7L2	T	1	1
TCF7L2	6934	broad.mit.edu	36	10	114915645	114915645	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:114915645C>T	uc001lae.2	+	c.1733C>T	c.(1732-1734)TCT>TTT	p.S578F	TCF7L2_uc001lac.2_Missense_Mutation_p.S572F|TCF7L2_uc001lag.2_3'UTR|TCF7L2_uc001lad.2_3'UTR|TCF7L2_uc001laf.2_Missense_Mutation_p.S555F|TCF7L2_uc001lah.1_Non-coding_Transcript	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2	595					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 gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|pancreas development|positive regulation of gene-specific transcription from RNA polymerase II promoter|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|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|promoter binding|protein kinase binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)												0.461538	257.425385	257.676566	90	105	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.00554)|all cancers(201;0.02)	Missense_Mutation	SNP	114915645	114915645	16224	10	C	T	T	32	32	TCF7L2	T	2	2
NRAP	4892	broad.mit.edu	36	10	115354653	115354653	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115354653T>C	uc001lal.2	-	c.3932A>G	c.(3931-3933)GAC>GGC	p.D1311G	NRAP_uc009xyb.1_Missense_Mutation_p.D100G|NRAP_uc001laj.1_Missense_Mutation_p.D1311G|NRAP_uc001lak.1_Missense_Mutation_p.D1276G	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1311	Nebulin 34.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)												0.431694	255.209422	255.950774	79	104	TT		KEEP	---	---	---	---	capture		Epithelial(162;0.00392)|all cancers(201;0.00569)	Missense_Mutation	SNP	115354653	115354653	11043	10	T	C	C	58	58	NRAP	C	4	4
NRAP	4892	broad.mit.edu	36	10	115367261	115367261	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115367261A>G	uc001lal.2	-	c.2916T>C	c.(2914-2916)AGT>AGC	p.S972S	NRAP_uc009xyb.1_Intron|NRAP_uc001laj.1_Silent_p.S972S|NRAP_uc001lak.1_Silent_p.S937S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	972	Nebulin 25.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)												0.245509	230.006793	249.695225	82	252	AA		KEEP	---	---	---	---	capture		Epithelial(162;0.00392)|all cancers(201;0.00569)	Silent	SNP	115367261	115367261	11043	10	A	G	G	14	14	NRAP	G	4	4
NRAP	4892	broad.mit.edu	36	10	115383943	115383943	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115383943C>T	uc001lal.2	-	c.1445G>A	c.(1444-1446)AGC>AAC	p.S482N	NRAP_uc001laj.1_Missense_Mutation_p.S482N|NRAP_uc001lak.1_Missense_Mutation_p.S447N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	482						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)												0.244776	208.813625	228.672699	82	253	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.00392)|all cancers(201;0.00569)	Missense_Mutation	SNP	115383943	115383943	11043	10	C	T	T	28	28	NRAP	T	2	2
NRAP	4892	broad.mit.edu	36	10	115413617	115413617	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115413617G>T	uc001lal.2	-	c.15C>A	c.(13-15)CCC>CCA	p.P5P	NRAP_uc001laj.1_Silent_p.P5P|NRAP_uc001lak.1_Silent_p.P5P	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	5	LIM zinc-binding.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)												0.12963	30.436617	59.304806	28	188	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.00392)|all cancers(201;0.00569)	Silent	SNP	115413617	115413617	11043	10	G	T	T	35	35	NRAP	T	3	3
C10orf81	79949	broad.mit.edu	36	10	115518570	115518570	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115518570G>A	uc001lat.1	+	c.348G>A	c.(346-348)AAG>AAA	p.K116K	C10orf81_uc001lar.1_Silent_p.K122K|C10orf81_uc009xyc.1_Silent_p.K34K|C10orf81_uc001las.1_Silent_p.K34K|C10orf81_uc001lau.1_5'Flank	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949	116	PH.									central_nervous_system(1)	1		Colorectal(252;0.175)												0.407143	170.442506	171.49903	57	83	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.0181)|all cancers(201;0.0204)	Silent	SNP	115518570	115518570	1656	10	G	A	A	33	33	C10orf81	A	2	2
C10orf81	79949	broad.mit.edu	36	10	115527239	115527239	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115527239C>A	uc001lat.1	+	c.1248C>A	c.(1246-1248)ACC>ACA	p.T416T	C10orf81_uc001lar.1_Intron|C10orf81_uc009xyc.1_Intron|C10orf81_uc001las.1_Intron|C10orf81_uc001lau.1_Intron	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949	Error:Variant_position_missing_in_Q5SXH7_after_alignment										central_nervous_system(1)	1		Colorectal(252;0.175)												0.588235	57.099715	57.329833	20	14	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0181)|all cancers(201;0.0204)	Silent	SNP	115527239	115527239	1656	10	C	A	A	24	24	C10orf81	A	3	3
NHLRC2	374354	broad.mit.edu	36	10	115651470	115651470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115651470C>T	uc001lax.1	+	c.1195C>T	c.(1195-1197)CGA>TGA	p.R399*	NHLRC2_uc001lay.1_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	399					cell redox homeostasis					ovary(1)	1														0.221591	166.045566	191.172198	78	274	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.017)|all cancers(201;0.0187)	Nonsense_Mutation	SNP	115651470	115651470	10806	10	C	T	T	31	31	NHLRC2	T	5	1
NHLRC2	374354	broad.mit.edu	36	10	115652305	115652305	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115652305G>T	uc001lax.1	+	c.1457G>T	c.(1456-1458)AGG>ATG	p.R486M	NHLRC2_uc001lay.1_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	486	NHL 5.				cell redox homeostasis					ovary(1)	1														0.169231	72.829864	99.774024	44	216	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.017)|all cancers(201;0.0187)	Missense_Mutation	SNP	115652305	115652305	10806	10	G	T	T	35	35	NHLRC2	T	3	3
NHLRC2	374354	broad.mit.edu	36	10	115654628	115654628	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115654628G>T	uc001lax.1	+	c.1767G>T	c.(1765-1767)AAG>AAT	p.K589N	NHLRC2_uc001lay.1_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	589					cell redox homeostasis					ovary(1)	1														0.372781	162.272105	164.677686	63	106	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.017)|all cancers(201;0.0187)	Missense_Mutation	SNP	115654628	115654628	10806	10	G	T	T	33	33	NHLRC2	T	3	3
USP6NL	9712	broad.mit.edu	36	10	11583203	11583203	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:11583203C>T	uc001iks.1	-	c.338G>A	c.(337-339)CGA>CAA	p.R113Q	USP6NL_uc001ikt.2_Missense_Mutation_p.R96Q	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 2	96						intracellular	Rab GTPase activator activity				0														0.385965	59.937818	60.586893	22	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11583203	11583203	17651	10	C	T	T	31	31	USP6NL	T	1	1
TDRD1	56165	broad.mit.edu	36	10	115954630	115954630	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115954630C>A	uc001lbg.1	+	c.1285C>A	c.(1285-1287)CTG>ATG	p.L429M	TDRD1_uc001lbf.2_Missense_Mutation_p.L420M|TDRD1_uc001lbh.1_Missense_Mutation_p.L420M|TDRD1_uc001lbi.1_Missense_Mutation_p.L420M|TDRD1_uc001lbj.2_Missense_Mutation_p.L138M	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	429					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)												0.148649	32.443825	49.987546	22	126	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0343)|all cancers(201;0.0754)	Missense_Mutation	SNP	115954630	115954630	16256	10	C	A	A	28	28	TDRD1	A	3	3
TDRD1	56165	broad.mit.edu	36	10	115960356	115960356	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115960356A>G	uc001lbg.1	+	c.1411A>G	c.(1411-1413)ACA>GCA	p.T471A	TDRD1_uc001lbf.2_Missense_Mutation_p.T462A|TDRD1_uc001lbh.1_Missense_Mutation_p.T462A|TDRD1_uc001lbi.1_Missense_Mutation_p.T462A|TDRD1_uc001lbj.2_Missense_Mutation_p.T180A	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	471					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)												0.359551	105.88108	107.424468	32	57	AA		KEEP	---	---	---	---	capture		Epithelial(162;0.0343)|all cancers(201;0.0754)	Missense_Mutation	SNP	115960356	115960356	16256	10	A	G	G	10	10	TDRD1	G	4	4
TDRD1	56165	broad.mit.edu	36	10	115961666	115961666	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115961666C>A	uc001lbg.1	+	c.1712C>A	c.(1711-1713)TCT>TAT	p.S571Y	TDRD1_uc001lbf.2_Intron|TDRD1_uc001lbh.1_Missense_Mutation_p.S562Y|TDRD1_uc001lbi.1_Missense_Mutation_p.S562Y|TDRD1_uc001lbj.2_Missense_Mutation_p.S280Y	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	571	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)												0.171975	89.434215	121.390686	54	260	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0343)|all cancers(201;0.0754)	Missense_Mutation	SNP	115961666	115961666	16256	10	C	A	A	32	32	TDRD1	A	3	3
TDRD1	56165	broad.mit.edu	36	10	115963124	115963124	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115963124C>T	uc001lbg.1	+	c.1861C>T	c.(1861-1863)CCA>TCA	p.P621S	TDRD1_uc001lbf.2_Missense_Mutation_p.P555S|TDRD1_uc001lbh.1_Missense_Mutation_p.P612S|TDRD1_uc001lbi.1_Missense_Mutation_p.P612S|TDRD1_uc001lbj.2_Missense_Mutation_p.P330S	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	621					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)												0.444444	253.479952	254.010661	88	110	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0343)|all cancers(201;0.0754)	Missense_Mutation	SNP	115963124	115963124	16256	10	C	T	T	30	30	TDRD1	T	2	2
TDRD1	56165	broad.mit.edu	36	10	115977787	115977787	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115977787G>A	uc001lbg.1	+	c.3451G>A	c.(3451-3453)GTT>ATT	p.V1151I	TDRD1_uc001lbf.2_Missense_Mutation_p.V1028I|TDRD1_uc001lbh.1_Missense_Mutation_p.V1138I|TDRD1_uc001lbi.1_Missense_Mutation_p.V1142I|TDRD1_uc001lbj.2_Missense_Mutation_p.V860I	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1151					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)												0.232558	43.152372	48.788701	20	66	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.0343)|all cancers(201;0.0754)	Missense_Mutation	SNP	115977787	115977787	16256	10	G	A	A	44	44	TDRD1	A	2	2
ATRNL1	26033	broad.mit.edu	36	10	116920810	116920810	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:116920810G>T	uc001lcg.1	+	c.1118G>T	c.(1117-1119)AGA>ATA	p.R373I	ATRNL1_uc001lce.1_Non-coding_Transcript|ATRNL1_uc001lcf.1_Missense_Mutation_p.R373I|ATRNL1_uc009xyq.1_Nonsense_Mutation_p.E344*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1	373	Kelch 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)												0.213115	78.410539	92.34071	39	144	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	Missense_Mutation	SNP	116920810	116920810	1226	10	G	T	T	33	33	ATRNL1	T	3	3
PNLIPRP3	119548	broad.mit.edu	36	10	118194016	118194016	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:118194016G>A	uc001lcl.2	+	c.456_splice	c.e4+1	p.M152_splice		NM_001011709	NP_001011709			pancreatic lipase-related protein 3						lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1														0.177419	97.42234	127.82697	55	255	GG		KEEP	---	---	---	---	capture		all cancers(201;0.0131)	Splice_Site_SNP	SNP	118194016	118194016	12578	10	G	A	A	44	44	PNLIPRP3	A	5	2
PNLIPRP3	119548	broad.mit.edu	36	10	118210548	118210548	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:118210548G>A	uc001lcl.2	+	c.646G>A	c.(646-648)GTT>ATT	p.V216I		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	216					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1														0.472	331.120668	331.291555	118	132	GG		KEEP	---	---	---	---	capture		all cancers(201;0.0131)	Missense_Mutation	SNP	118210548	118210548	12578	10	G	A	A	40	40	PNLIPRP3	A	1	1
PNLIP	5406	broad.mit.edu	36	10	118297955	118297955	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:118297955G>A	uc001lcm.1	+	c.295G>A	c.(295-297)GAA>AAA	p.E99K		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	99					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)	2					Bentiromide(DB00522)|Orlistat(DB01083)									0.239316	135.493147	150.005419	56	178	GG		KEEP	---	---	---	---	capture		all cancers(201;0.0131)	Missense_Mutation	SNP	118297955	118297955	12575	10	G	A	A	33	33	PNLIP	A	2	2
PNLIP	5406	broad.mit.edu	36	10	118303237	118303237	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:118303237C>T	uc001lcm.1	+	c.468C>T	c.(466-468)TTC>TTT	p.F156F		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	156					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)	2					Bentiromide(DB00522)|Orlistat(DB01083)									0.416667	123.947785	124.604211	45	63	CC		KEEP	---	---	---	---	capture		all cancers(201;0.0131)	Silent	SNP	118303237	118303237	12575	10	C	T	T	31	31	PNLIP	T	1	1
PNLIP	5406	broad.mit.edu	36	10	118309969	118309969	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:118309969A>G	uc001lcm.1	+	c.1112A>G	c.(1111-1113)CAC>CGC	p.H371R		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	371	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)	2					Bentiromide(DB00522)|Orlistat(DB01083)									0.123188	22.684983	41.850961	17	121	AA		KEEP	---	---	---	---	capture		all cancers(201;0.0131)	Missense_Mutation	SNP	118309969	118309969	12575	10	A	G	G	6	6	PNLIP	G	4	4
PNLIPRP1	5407	broad.mit.edu	36	10	118344241	118344241	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:118344241G>A	uc001lco.1	+	c.340G>A	c.(340-342)GAG>AAG	p.E114K	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.E114K|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	114					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2														0.193916	95.048991	118.090532	51	212	GG		KEEP	---	---	---	---	capture		all cancers(201;0.0161)	Missense_Mutation	SNP	118344241	118344241	12576	10	G	A	A	37	37	PNLIPRP1	A	1	1
HSPA12A	259217	broad.mit.edu	36	10	118450584	118450584	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:118450584T>C	uc001lct.1	-	c.301A>G	c.(301-303)ACC>GCC	p.T101A	HSPA12A_uc001lcu.1_Missense_Mutation_p.T18A	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	101							ATP binding			ovary(1)	1														0.480159	407.080677	407.165582	121	131	TT		KEEP	---	---	---	---	capture		all cancers(201;0.0158)	Missense_Mutation	SNP	118450584	118450584	7703	10	T	C	C	60	60	HSPA12A	C	4	4
SLC18A2	6571	broad.mit.edu	36	10	119026715	119026715	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:119026715A>C	uc001ldd.1	+	c.1493A>C	c.(1492-1494)AAT>ACT	p.N498T	SLC18A2_uc009xyy.1_Missense_Mutation_p.N295T	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	498	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)			Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)									0.246032	83.371905	90.765195	31	95	AA		KEEP	---	---	---	---	capture		all cancers(201;0.029)	Missense_Mutation	SNP	119026715	119026715	14922	10	A	C	C	4	4	SLC18A2	C	4	4
PDZD8	118987	broad.mit.edu	36	10	119034216	119034216	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:119034216G>A	uc001lde.1	-	c.2018C>T	c.(2017-2019)TCG>TTG	p.S673L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	673					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)												0.177606	83.294097	108.651388	46	213	GG		KEEP	---	---	---	---	capture		all cancers(201;0.0121)	Missense_Mutation	SNP	119034216	119034216	12126	10	G	A	A	37	37	PDZD8	A	1	1
PDZD8	118987	broad.mit.edu	36	10	119034807	119034807	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:119034807G>A	uc001lde.1	-	c.1427C>T	c.(1426-1428)TCG>TTG	p.S476L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	476					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)												0.425656	404.0211	405.687997	146	197	GG		KEEP	---	---	---	---	capture		all cancers(201;0.0121)	Missense_Mutation	SNP	119034807	119034807	12126	10	G	A	A	37	37	PDZD8	A	1	1
UPF2	26019	broad.mit.edu	36	10	12025067	12025067	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:12025067A>G	uc001ila.1	-	c.3279_splice	c.e16+1	p.T1093_splice	UPF2_uc001ilb.1_Splice_Site_SNP_p.T1093_splice|UPF2_uc009xiy.1_Intron|UPF2_uc001ilc.1_Splice_Site_SNP_p.T1093_splice	NM_080599	NP_542166			UPF2 regulator of nonsense transcripts homolog						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)												0.259494	121.722352	129.98493	41	117	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	12025067	12025067	17564	10	A	G	G	14	14	UPF2	G	5	4
UPF2	26019	broad.mit.edu	36	10	12030487	12030487	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:12030487C>A	uc001ila.1	-	c.3061G>T	c.(3061-3063)GAT>TAT	p.D1021Y	UPF2_uc001ilb.1_Missense_Mutation_p.D1021Y|UPF2_uc009xiy.1_Intron|UPF2_uc001ilc.1_Missense_Mutation_p.D1021Y	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1021	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)												0.47486	228.635141	228.735186	85	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12030487	12030487	17564	10	C	A	A	32	32	UPF2	A	3	3
UPF2	26019	broad.mit.edu	36	10	12034144	12034144	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:12034144G>A	uc001ila.1	-	c.2961C>T	c.(2959-2961)ATC>ATT	p.I987I	UPF2_uc001ilb.1_Silent_p.I987I|UPF2_uc009xiy.1_Intron|UPF2_uc001ilc.1_Silent_p.I987I|UPF2_uc009xiz.1_Silent_p.I987I	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	987	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)												0.40407	384.032136	386.806221	139	205	GG		KEEP	---	---	---	---	capture			Silent	SNP	12034144	12034144	17564	10	G	A	A	45	45	UPF2	A	2	2
PRLHR	2834	broad.mit.edu	36	10	120343742	120343742	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:120343742G>A	uc001ldp.1	-	c.1005C>T	c.(1003-1005)TAC>TAT	p.Y335Y	PRLHR_uc001ldq.2_Silent_p.Y335Y	NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	335	Helical; Name=7; (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)												0.511811	181.356416	181.371415	65	62	GG		KEEP	---	---	---	---	capture		all cancers(201;0.0166)	Silent	SNP	120343742	120343742	12973	10	G	A	A	40	40	PRLHR	A	1	1
C10orf46	143384	broad.mit.edu	36	10	120479847	120479847	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:120479847C>A	uc001lds.1	-	c.433G>T	c.(433-435)GAT>TAT	p.D145Y	C10orf46_uc009xze.1_Non-coding_Transcript	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	145					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)												0.248227	71.954721	80.090732	35	106	CC		KEEP	---	---	---	---	capture		all cancers(201;0.0131)	Missense_Mutation	SNP	120479847	120479847	1641	10	C	A	A	32	32	C10orf46	A	3	3
C10orf46	143384	broad.mit.edu	36	10	120504248	120504248	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:120504248T>G	uc001lds.1	-	c.17A>C	c.(16-18)GAA>GCA	p.E6A	C10orf46_uc009xze.1_Non-coding_Transcript	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	6					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)												0.416216	243.268786	244.395027	77	108	TT		KEEP	---	---	---	---	capture		all cancers(201;0.0131)	Missense_Mutation	SNP	120504248	120504248	1641	10	T	G	G	62	62	C10orf46	G	4	4
EIF3A	8661	broad.mit.edu	36	10	120792055	120792055	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:120792055C>A	uc001ldu.1	-	c.2967G>T	c.(2965-2967)TGG>TGT	p.W989C	EIF3A_uc009xzg.1_Missense_Mutation_p.W28C	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	989	7.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)								1050				0.232984	187.246563	212.144917	89	293	CC		KEEP	---	---	---	---	capture		all cancers(201;0.0236)	Missense_Mutation	SNP	120792055	120792055	5201	10	C	A	A	26	26	EIF3A	A	3	3
EIF3A	8661	broad.mit.edu	36	10	120792273	120792273	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:120792273C>T	uc001ldu.1	-	c.2749G>A	c.(2749-2751)GAG>AAG	p.E917K	EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	917					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)								1050				0.421875	459.572141	461.618726	162	222	CC		KEEP	---	---	---	---	capture		all cancers(201;0.0236)	Missense_Mutation	SNP	120792273	120792273	5201	10	C	T	T	30	30	EIF3A	T	2	2
EIF3A	8661	broad.mit.edu	36	10	120807800	120807800	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:120807800C>A	uc001ldu.1	-	c.1635G>T	c.(1633-1635)GAG>GAT	p.E545D		NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	545					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)								1050				0.208333	9.359402	11.252711	5	19	CC		KEEP	---	---	---	---	capture		all cancers(201;0.0236)	Missense_Mutation	SNP	120807800	120807800	5201	10	C	A	A	32	32	EIF3A	A	3	3
UPF2	26019	broad.mit.edu	36	10	12086585	12086585	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:12086585T>C	uc001ila.1	-	c.1454A>G	c.(1453-1455)GAC>GGC	p.D485G	UPF2_uc001ilb.1_Missense_Mutation_p.D485G|UPF2_uc009xiy.1_Missense_Mutation_p.D485G|UPF2_uc001ilc.1_Missense_Mutation_p.D485G|UPF2_uc009xiz.1_Missense_Mutation_p.D485G	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	485					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)												0.390977	161.434556	162.828834	52	81	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12086585	12086585	17564	10	T	C	C	58	58	UPF2	C	4	4
UPF2	26019	broad.mit.edu	36	10	12110899	12110899	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:12110899C>T	uc001ila.1	-	c.996G>A	c.(994-996)GAG>GAA	p.E332E	UPF2_uc001ilb.1_Silent_p.E332E|UPF2_uc009xiy.1_Silent_p.E332E|UPF2_uc001ilc.1_Silent_p.E332E|UPF2_uc009xiz.1_Silent_p.E332E	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	332	MIF4G 1.				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)												0.422907	282.637886	283.819412	96	131	CC		KEEP	---	---	---	---	capture			Silent	SNP	12110899	12110899	17564	10	C	T	T	32	32	UPF2	T	2	2
INPP5F	22876	broad.mit.edu	36	10	121531196	121531196	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:121531196G>T	uc001leo.1	+	c.238G>T	c.(238-240)GAC>TAC	p.D80Y	INPP5F_uc001len.2_Missense_Mutation_p.D80Y	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	80							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)												0.115108	11.790751	32.095154	16	123	GG		KEEP	---	---	---	---	capture		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	Missense_Mutation	SNP	121531196	121531196	8059	10	G	T	T	33	33	INPP5F	T	3	3
INPP5F	22876	broad.mit.edu	36	10	121553675	121553675	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:121553675G>A	uc001leo.1	+	c.1117G>A	c.(1117-1119)GTT>ATT	p.V373I		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	373	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)												0.42268	236.811073	237.824412	82	112	GG		KEEP	---	---	---	---	capture		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	Missense_Mutation	SNP	121553675	121553675	8059	10	G	A	A	44	44	INPP5F	A	2	2
C10orf119	79892	broad.mit.edu	36	10	121585130	121585130	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:121585130G>A	uc001ler.2	-	c.1625C>T	c.(1624-1626)GCG>GTG	p.A542V	C10orf119_uc001leq.1_Missense_Mutation_p.A367V|C10orf119_uc001les.1_Missense_Mutation_p.A367V	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	chromosome 10 open reading frame 119	542					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding				0		Lung NSC(174;0.109)|all_lung(145;0.142)												0.487685	275.988168	276.015631	99	104	GG		KEEP	---	---	---	---	capture		all cancers(201;0.0044)	Missense_Mutation	SNP	121585130	121585130	1623	10	G	A	A	38	38	C10orf119	A	1	1
SEC23IP	11196	broad.mit.edu	36	10	121653739	121653739	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:121653739G>A	uc001leu.1	+	c.1061G>A	c.(1060-1062)CGA>CAA	p.R354Q		NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	354	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)												0.191489	52.63898	65.183075	27	114	GG		KEEP	---	---	---	---	capture		all cancers(201;0.00515)	Missense_Mutation	SNP	121653739	121653739	14479	10	G	A	A	37	37	SEC23IP	A	1	1
SEC61A2	55176	broad.mit.edu	36	10	12218148	12218148	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:12218148G>A	uc001ile.1	+	c.114G>A	c.(112-114)ACG>ACA	p.T38T	SEC61A2_uc001ilf.2_Non-coding_Transcript|SEC61A2_uc001ilg.2_Silent_p.T38T|SEC61A2_uc001ilh.2_Non-coding_Transcript	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	38	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)												0.168675	68.582859	94.487417	42	207	GG		KEEP	---	---	---	---	capture			Silent	SNP	12218148	12218148	14487	10	G	A	A	38	38	SEC61A2	A	1	1
PPAPDC1A	196051	broad.mit.edu	36	10	122253339	122253339	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:122253339C>T	uc001lev.1	+	c.76C>T	c.(76-78)CCG>TCG	p.P26S	PPAPDC1A_uc009xzl.1_Missense_Mutation_p.P26S|PPAPDC1A_uc001lew.1_Missense_Mutation_p.P26S|PPAPDC1A_uc001lex.1_Missense_Mutation_p.P26S|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain	26						integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)												0.47486	248.353181	248.452275	85	94	CC		KEEP	---	---	---	---	capture		all cancers(201;0.0117)	Missense_Mutation	SNP	122253339	122253339	12723	10	C	T	T	30	30	PPAPDC1A	T	2	2
PPAPDC1A	196051	broad.mit.edu	36	10	122338936	122338936	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:122338936G>T	uc001lev.1	+	c.748G>T	c.(748-750)GAG>TAG	p.E250*	PPAPDC1A_uc009xzl.1_Nonsense_Mutation_p.E187*|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_3'UTR|PPAPDC1A_uc001ley.1_Nonsense_Mutation_p.E129*	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain	250						integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)												0.205556	64.653632	79.152679	37	143	GG		KEEP	---	---	---	---	capture		all cancers(201;0.0117)	Nonsense_Mutation	SNP	122338936	122338936	12723	10	G	T	T	33	33	PPAPDC1A	T	5	3
ADARB2	105	broad.mit.edu	36	10	1235949	1235949	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1235949G>A	uc009xhq.1	-	c.1821C>T	c.(1819-1821)GGC>GGT	p.G607G	ADARB2_uc001igm.2_Silent_p.G116G	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	607	A to I editase.				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)								191				0.185185	7.458664	9.981741	5	22	GG		KEEP	---	---	---	---	capture		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Silent	SNP	1235949	1235949	284	10	G	A	A	42	42	ADARB2	A	2	2
ATE1	11101	broad.mit.edu	36	10	123651917	123651917	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123651917C>A	uc001lfp.1	-	c.792G>T	c.(790-792)GAG>GAT	p.E264D	ATE1_uc001lfq.1_Missense_Mutation_p.E264D|ATE1_uc001lfr.1_Intron|ATE1_uc009xzu.1_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	264					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)												0.30625	113.594326	118.963226	49	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123651917	123651917	1097	10	C	A	A	32	32	ATE1	A	3	3
TACC2	10579	broad.mit.edu	36	10	123833441	123833441	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123833441G>A	uc001lfv.1	+	c.1436G>A	c.(1435-1437)GGA>GAA	p.G479E	TACC2_uc001lfw.1_Intron|TACC2_uc009xzx.1_Missense_Mutation_p.G479E	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	479						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.444882	313.117524	313.792027	113	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123833441	123833441	16023	10	G	A	A	41	41	TACC2	A	2	2
TACC2	10579	broad.mit.edu	36	10	123833507	123833507	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123833507T>C	uc001lfv.1	+	c.1502T>C	c.(1501-1503)TTG>TCG	p.L501S	TACC2_uc001lfw.1_Intron|TACC2_uc009xzx.1_Missense_Mutation_p.L501S	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	501	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.241877	164.194066	181.024981	67	210	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123833507	123833507	16023	10	T	C	C	63	63	TACC2	C	4	4
TACC2	10579	broad.mit.edu	36	10	123833848	123833848	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123833848C>T	uc001lfv.1	+	c.1843C>T	c.(1843-1845)CTT>TTT	p.L615F	TACC2_uc001lfw.1_Intron|TACC2_uc009xzx.1_Missense_Mutation_p.L615F	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	615						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.40625	147.867307	148.852287	52	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123833848	123833848	16023	10	C	T	T	28	28	TACC2	T	2	2
TACC2	10579	broad.mit.edu	36	10	123835386	123835386	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123835386C>T	uc001lfv.1	+	c.3381C>T	c.(3379-3381)GCC>GCT	p.A1127A	TACC2_uc001lfw.1_Intron|TACC2_uc009xzx.1_Silent_p.A1127A	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1127						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.4	141.338801	142.426776	50	75	CC		KEEP	---	---	---	---	capture			Silent	SNP	123835386	123835386	16023	10	C	T	T	23	23	TACC2	T	1	1
TACC2	10579	broad.mit.edu	36	10	123836566	123836566	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123836566G>A	uc001lfv.1	+	c.4561G>A	c.(4561-4563)GTC>ATC	p.V1521I	TACC2_uc001lfw.1_Intron|TACC2_uc009xzx.1_Missense_Mutation_p.V1521I	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1521						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.432432	123.667684	124.111834	48	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123836566	123836566	16023	10	G	A	A	48	48	TACC2	A	2	2
TACC2	10579	broad.mit.edu	36	10	123836823	123836823	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123836823C>T	uc001lfv.1	+	c.4818C>T	c.(4816-4818)TGC>TGT	p.C1606C	TACC2_uc001lfw.1_Intron|TACC2_uc009xzx.1_Silent_p.C1606C	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1606						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.483696	251.653256	251.696222	89	95	CC		KEEP	---	---	---	---	capture			Silent	SNP	123836823	123836823	16023	10	C	T	T	27	27	TACC2	T	1	1
TACC2	10579	broad.mit.edu	36	10	123998202	123998202	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123998202T>C	uc001lfv.1	+	c.8447T>C	c.(8446-8448)CTG>CCG	p.L2816P	TACC2_uc001lfw.1_Missense_Mutation_p.L962P|TACC2_uc009xzx.1_Missense_Mutation_p.L2694P|TACC2_uc001lfx.1_Missense_Mutation_p.L443P|TACC2_uc001lfy.1_Missense_Mutation_p.L439P|TACC2_uc001lfz.1_Missense_Mutation_p.L894P|TACC2_uc001lga.1_Missense_Mutation_p.L864P|TACC2_uc009xzy.1_Missense_Mutation_p.L876P|TACC2_uc001lgb.1_Missense_Mutation_p.L774P	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2816	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.208914	171.823131	200.005569	75	284	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123998202	123998202	16023	10	T	C	C	55	55	TACC2	C	4	4
BTBD16	118663	broad.mit.edu	36	10	124024597	124024597	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:124024597C>T	uc001lgc.1	+	c.11C>T	c.(10-12)TCG>TTG	p.S4L	BTBD16_uc001lgd.1_Missense_Mutation_p.S2L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	4											0		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)												0.168675	73.987369	99.881317	42	207	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124024597	124024597	1573	10	C	T	T	31	31	BTBD16	T	1	1
PLEKHA1	59338	broad.mit.edu	36	10	124179181	124179181	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:124179181G>A	uc001lge.1	+	c.952G>A	c.(952-954)GCA>ACA	p.A318T	PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.A318T	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	318					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)												0.421875	145.226027	145.9071	54	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124179181	124179181	12481	10	G	A	A	38	38	PLEKHA1	A	1	1
DMBT1	1755	broad.mit.edu	36	10	124343091	124343091	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:124343091G>A	uc001lgk.1	+	c.2517G>A	c.(2515-2517)CCG>CCA	p.P839P	DMBT1_uc001lgl.1_Silent_p.P829P|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.P839P	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	839					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)				Ovarian(182;93 2026 18125 22222 38972)								0.425656	814.148442	817.462247	292	394	GG		KEEP	---	---	---	---	capture			Silent	SNP	124343091	124343091	4757	10	G	A	A	37	37	DMBT1	A	1	1
DMBT1	1755	broad.mit.edu	36	10	124386751	124386751	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:124386751G>A	uc001lgk.1	+	c.6488G>A	c.(6487-6489)CGG>CAG	p.R2163Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R2153Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R1535Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R2162Q|DMBT1_uc009yab.1_Missense_Mutation_p.R866Q|DMBT1_uc009yac.1_Missense_Mutation_p.R457Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2163	ZP.				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)				Ovarian(182;93 2026 18125 22222 38972)								0.282353	63.565431	67.182172	24	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124386751	124386751	4757	10	G	A	A	39	39	DMBT1	A	1	1
C10orf120	399814	broad.mit.edu	36	10	124447724	124447724	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:124447724G>A	uc001lgn.1	-	c.523C>T	c.(523-525)CGG>TGG	p.R175W		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	175								p.R175R(1)		kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)												0.349558	202.152521	206.667332	79	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124447724	124447724	1625	10	G	A	A	37	37	C10orf120	A	1	1
PSTK	118672	broad.mit.edu	36	10	124732783	124732783	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:124732783T>C	uc001lgy.1	+	c.514T>C	c.(514-516)TTG>CTG	p.L172L		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	172							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)												0.357895	105.732825	107.418258	34	61	TT		KEEP	---	---	---	---	capture		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	Silent	SNP	124732783	124732783	13174	10	T	C	C	60	60	PSTK	C	4	4
PSTK	118672	broad.mit.edu	36	10	124736381	124736381	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:124736381G>A	uc001lgy.1	+	c.790G>A	c.(790-792)GAC>AAC	p.D264N		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	264							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)												0.386667	87.756052	88.60093	29	46	GG		KEEP	---	---	---	---	capture		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	Missense_Mutation	SNP	124736381	124736381	13174	10	G	A	A	33	33	PSTK	A	2	2
CPXM2	119587	broad.mit.edu	36	10	125506820	125506820	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:125506820C>T	uc001lhk.1	-	c.1816G>A	c.(1816-1818)GAA>AAA	p.E606K	CPXM2_uc001lhj.2_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	606					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)												0.430962	286.304845	287.292947	103	136	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	Missense_Mutation	SNP	125506820	125506820	3977	10	C	T	T	31	31	CPXM2	T	1	1
CPXM2	119587	broad.mit.edu	36	10	125547588	125547588	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:125547588C>T	uc001lhk.1	-	c.783G>A	c.(781-783)GAG>GAA	p.E261E	CPXM2_uc001lhj.2_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	261	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)												0.130435	22.806129	41.101065	18	120	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	Silent	SNP	125547588	125547588	3977	10	C	T	T	28	28	CPXM2	T	2	2
OAT	4942	broad.mit.edu	36	10	126082440	126082440	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126082440C>A	uc001lhp.2	-	c.688G>T	c.(688-690)GAA>TAA	p.E230*	OAT_uc001lhq.2_Non-coding_Transcript|OAT_uc001lhr.2_Nonsense_Mutation_p.E92*	NM_000274	NP_000265	P04181	OAT_HUMAN	ornithine aminotransferase precursor	230					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding				0		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)							OREG0020605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.266667	77.12996	83.778176	36	99	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	126082440	126082440	11208	10	C	A	A	32	32	OAT	A	5	3
FAM53B	9679	broad.mit.edu	36	10	126301977	126301977	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126301977C>T	uc001lhv.1	-	c.1093G>A	c.(1093-1095)GAC>AAC	p.D365N	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	365										ovary(1)|pancreas(1)	2		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)												0.159091	10.297243	15.172404	7	37	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	Missense_Mutation	SNP	126301977	126301977	5802	10	C	T	T	31	31	FAM53B	T	1	1
FAM53B	9679	broad.mit.edu	36	10	126360817	126360817	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126360817G>A	uc001lhv.1	-	c.255C>T	c.(253-255)ACC>ACT	p.T85T	FAM53B_uc001lhu.1_Silent_p.T85T|FAM53B_uc001lhw.2_Silent_p.T85T	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	85										ovary(1)|pancreas(1)	2		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)												0.407407	91.756566	92.363811	33	48	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	Silent	SNP	126360817	126360817	5802	10	G	A	A	39	39	FAM53B	A	1	1
FAM175B	23172	broad.mit.edu	36	10	126513456	126513456	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126513456T>C	uc001lib.2	+	c.1174T>C	c.(1174-1176)TCA>CCA	p.S392P		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	392						BRISC complex	polyubiquitin binding				0														0.432927	240.091777	240.736212	71	93	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126513456	126513456	5704	10	T	C	C	54	54	FAM175B	C	4	4
ZRANB1	54764	broad.mit.edu	36	10	126621066	126621066	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126621066G>T	uc001lic.1	+	c.14G>T	c.(13-15)GGA>GTA	p.G5V		NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	5	RanBP2-type 1.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)												0.484043	250.393924	250.436307	91	97	GG		KEEP	---	---	---	---	capture		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	Missense_Mutation	SNP	126621066	126621066	18826	10	G	T	T	41	41	ZRANB1	T	3	3
ZRANB1	54764	broad.mit.edu	36	10	126621285	126621285	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126621285C>A	uc001lic.1	+	c.233C>A	c.(232-234)TCT>TAT	p.S78Y		NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	78					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)												0.222222	93.957056	109.31978	48	168	CC		KEEP	---	---	---	---	capture		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	Missense_Mutation	SNP	126621285	126621285	18826	10	C	A	A	32	32	ZRANB1	A	3	3
CTBP2	1488	broad.mit.edu	36	10	126681925	126681925	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126681925G>A	uc001lie.2	-	c.1805C>T	c.(1804-1806)GCG>GTG	p.A602V	CTBP2_uc009yak.1_Missense_Mutation_p.A62V|CTBP2_uc009yal.1_Missense_Mutation_p.A62V|CTBP2_uc001lif.2_Missense_Mutation_p.A62V|CTBP2_uc001lih.2_Missense_Mutation_p.A62V|CTBP2_uc001lid.2_Missense_Mutation_p.A130V	NM_022802	NP_073713	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 2	62					negative regulation of cell proliferation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|transcription repressor activity				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)								463				0.209459	60.471045	72.018503	31	117	GG		KEEP	---	---	---	---	capture		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	Missense_Mutation	SNP	126681925	126681925	4157	10	G	A	A	38	38	CTBP2	A	1	1
CTBP2	1488	broad.mit.edu	36	10	126705556	126705556	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126705556G>A	uc001lie.2	-	c.763C>T	c.(763-765)CGT>TGT	p.R255C	CTBP2_uc009yak.1_Intron|CTBP2_uc009yal.1_Intron|CTBP2_uc001lif.2_Intron|CTBP2_uc001lih.2_Intron	NM_022802	NP_073713	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 2	411				I -> T (in Ref. 9; AAH47018).	negative regulation of cell proliferation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|transcription repressor activity				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)								463				0.435065	184.065859	184.616159	67	87	GG		KEEP	---	---	---	---	capture		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	Missense_Mutation	SNP	126705556	126705556	4157	10	G	A	A	37	37	CTBP2	A	1	1
C10orf137	26098	broad.mit.edu	36	10	127402407	127402407	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:127402407C>T	uc001liq.1	+	c.422C>T	c.(421-423)TCG>TTG	p.S141L	C10orf137_uc001lin.2_Missense_Mutation_p.S141L|C10orf137_uc001lio.1_Missense_Mutation_p.S141L|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)	8		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.420896	397.19965	399.032734	141	194	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127402407	127402407	1631	10	C	T	T	31	31	C10orf137	T	1	1
MMP21	118856	broad.mit.edu	36	10	127445465	127445465	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:127445465A>G	uc001liu.1	-	c.1466T>C	c.(1465-1467)ATT>ACT	p.I489T		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	489	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.449275	210.045746	210.353143	62	76	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127445465	127445465	10050	10	A	G	G	4	4	MMP21	G	4	4
UROS	7390	broad.mit.edu	36	10	127473503	127473503	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:127473503G>T	uc001liw.2	-	c.596C>A	c.(595-597)TCT>TAT	p.S199Y	UROS_uc001liv.2_Missense_Mutation_p.S80Y|UROS_uc001lix.2_Missense_Mutation_p.S199Y|UROS_uc001liy.2_Non-coding_Transcript	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	199					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)												0.174157	51.497959	69.35663	31	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127473503	127473503	17592	10	G	T	T	33	33	UROS	T	3	3
DHX32	55760	broad.mit.edu	36	10	127532582	127532582	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:127532582C>A	uc001ljf.1	-	c.1030G>T	c.(1030-1032)GAG>TAG	p.E344*	DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Nonsense_Mutation_p.E344*|DHX32_uc009yam.1_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	344						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.224409	117.421162	135.169618	57	197	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	127532582	127532582	4684	10	C	A	A	32	32	DHX32	A	5	3
C10orf90	118611	broad.mit.edu	36	10	128104570	128104570	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:128104570G>A	uc001ljq.1	-	c.2041C>T	c.(2041-2043)CGT>TGT	p.R681C	C10orf90_uc001ljo.1_Non-coding_Transcript|C10orf90_uc001ljp.1_Missense_Mutation_p.R537C	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	681											0		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)												0.15493	77.013146	109.347338	44	240	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	Missense_Mutation	SNP	128104570	128104570	1660	10	G	A	A	39	39	C10orf90	A	1	1
CAMK1D	57118	broad.mit.edu	36	10	12842972	12842972	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:12842972T>C	uc001ilo.1	+	c.319T>C	c.(319-321)TTT>CTT	p.F107L	CAMK1D_uc001iln.1_Missense_Mutation_p.F107L	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	107	Protein kinase.				protein phosphorylation	calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1										482				0.171429	69.144285	87.002091	30	145	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;3.16e-05)	Missense_Mutation	SNP	12842972	12842972	2714	10	T	C	C	60	60	CAMK1D	C	4	4
DOCK1	1793	broad.mit.edu	36	10	128740949	128740949	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:128740949T>G	uc001ljt.1	+	c.2153T>G	c.(2152-2154)GTG>GGG	p.V718G		NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	718					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)												0.180412	83.81011	102.449606	35	159	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	Missense_Mutation	SNP	128740949	128740949	4868	10	T	G	G	59	59	DOCK1	G	4	4
DOCK1	1793	broad.mit.edu	36	10	129092681	129092681	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:129092681C>T	uc001ljt.1	+	c.4057C>T	c.(4057-4059)CGG>TGG	p.R1353W	DOCK1_uc009yaq.1_Missense_Mutation_p.R348W	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1353	DHR-2.				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)												0.36	47.836918	48.699258	18	32	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	Missense_Mutation	SNP	129092681	129092681	4868	10	C	T	T	27	27	DOCK1	T	1	1
CAMK1D	57118	broad.mit.edu	36	10	12910813	12910813	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:12910813C>T	uc001ilo.1	+	c.1079C>T	c.(1078-1080)TCG>TTG	p.S360L		NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	360	Ser-rich.				protein phosphorylation	calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1									p.S360L(CW2-Tumor)	482				0.461538	166.480545	166.648239	60	70	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;3.16e-05)	Missense_Mutation	SNP	12910813	12910813	2714	10	C	T	T	31	31	CAMK1D	T	1	1
CLRN3	119467	broad.mit.edu	36	10	129572108	129572108	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:129572108G>T	uc001lka.1	-	c.251C>A	c.(250-252)TCT>TAT	p.S84Y	CLRN3_uc001ljz.1_Missense_Mutation_p.S16Y	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	84						integral to membrane					0		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)												0.170886	40.503364	56.725096	27	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129572108	129572108	3697	10	G	T	T	33	33	CLRN3	T	3	3
PTPRE	5791	broad.mit.edu	36	10	129764919	129764919	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:129764919G>T	uc009yat.1	+	c.1695G>T	c.(1693-1695)GAG>GAT	p.E565D	PTPRE_uc001lkb.1_Missense_Mutation_p.E554D|PTPRE_uc009yau.1_Missense_Mutation_p.E554D|PTPRE_uc001lkd.1_Missense_Mutation_p.E496D	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	554	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				Colon(52;977 1184 20575 41685)								0.183246	117.456314	153.528085	70	312	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129764919	129764919	13257	10	G	T	T	33	33	PTPRE	T	3	3
MKI67	4288	broad.mit.edu	36	10	129794795	129794795	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:129794795C>A	uc001lke.1	-	c.5299G>T	c.(5299-5301)GAA>TAA	p.E1767*	MKI67_uc001lkf.1_Nonsense_Mutation_p.E1407*|MKI67_uc009yav.1_Nonsense_Mutation_p.E1342*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E917*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1767	7.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.143939	48.367626	80.61653	38	226	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	129794795	129794795	9988	10	C	A	A	32	32	MKI67	A	5	3
MKI67	4288	broad.mit.edu	36	10	129798722	129798722	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:129798722C>T	uc001lke.1	-	c.2326G>A	c.(2326-2328)GCT>ACT	p.A776T	MKI67_uc001lkf.1_Missense_Mutation_p.A416T|MKI67_uc009yav.1_Missense_Mutation_p.A351T|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	776					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.209302	122.50012	146.023834	63	238	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129798722	129798722	9988	10	C	T	T	27	27	MKI67	T	1	1
CCDC3	83643	broad.mit.edu	36	10	12980445	12980445	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:12980445G>A	uc001ilq.1	-	c.790C>T	c.(790-792)CGC>TGC	p.R264C	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	264						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)												0.393617	94.557637	95.48691	37	57	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(52;0.163)		Missense_Mutation	SNP	12980445	12980445	2926	10	G	A	A	38	38	CCDC3	A	1	1
CCDC3	83643	broad.mit.edu	36	10	13080401	13080401	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:13080401C>T	uc001ilq.1	-	c.492G>A	c.(490-492)TCG>TCA	p.S164S	CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Intron	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	164						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)												0.502959	237.672694	237.674075	85	84	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(52;0.163)		Silent	SNP	13080401	13080401	2926	10	C	T	T	27	27	CCDC3	T	1	1
EBF3	253738	broad.mit.edu	36	10	131555439	131555439	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:131555439G>A	uc001lki.1	-	c.968C>T	c.(967-969)TCC>TTC	p.S323F		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	332	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding|transcription regulator activity			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)												0.196721	49.225389	59.685285	24	98	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	Missense_Mutation	SNP	131555439	131555439	5068	10	G	A	A	41	41	EBF3	A	2	2
EBF3	253738	broad.mit.edu	36	10	131561786	131561786	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:131561786A>G	uc001lki.1	-	c.701T>C	c.(700-702)GTG>GCG	p.V234A		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	234					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding|transcription regulator activity			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)												0.398305	136.702655	137.769068	47	71	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	Missense_Mutation	SNP	131561786	131561786	5068	10	A	G	G	6	6	EBF3	G	4	4
OPTN	10133	broad.mit.edu	36	10	13214109	13214109	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:13214109G>T	uc001ilu.1	+	c.1438G>T	c.(1438-1440)GCA>TCA	p.A480S	OPTN_uc001ilv.1_Missense_Mutation_p.A480S|OPTN_uc001ilw.1_Missense_Mutation_p.A480S|OPTN_uc001ilx.1_Missense_Mutation_p.A480S|OPTN_uc001ily.1_Missense_Mutation_p.A474S|OPTN_uc001ilz.1_Missense_Mutation_p.A474S	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	optineurin	480	Potential.|Interaction with MYO6.|Interaction with HD.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			ovary(2)	2														0.424837	180.238253	180.994602	65	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13214109	13214109	11295	10	G	T	T	34	34	OPTN	T	3	3
TCERG1L	256536	broad.mit.edu	36	10	132781427	132781427	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:132781427C>T	uc001lkp.1	-	c.1749G>A	c.(1747-1749)CGG>CGA	p.R583R		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	583										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)								800				0.365079	124.409613	126.429553	46	80	CC		KEEP	---	---	---	---	capture		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	Silent	SNP	132781427	132781427	16212	10	C	T	T	30	30	TCERG1L	T	2	2
MCM10	55388	broad.mit.edu	36	10	13286260	13286260	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:13286260C>T	uc001ima.1	+	c.2391C>T	c.(2389-2391)TGC>TGT	p.C797C	MCM10_uc001imc.2_Silent_p.C796C|MCM10_uc001imb.1_Silent_p.C796C	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	797					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.510204	209.729423	209.743198	75	72	CC		KEEP	---	---	---	---	capture			Silent	SNP	13286260	13286260	9774	10	C	T	T	27	27	MCM10	T	1	1
PPP2R2D	55844	broad.mit.edu	36	10	133607486	133607486	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:133607486C>A	uc001lks.1	+	c.403C>A	c.(403-405)CTT>ATT	p.L135I	PPP2R2D_uc001lkr.1_Intron|PPP2R2D_uc001lkt.1_Intron|PPP2R2D_uc009yay.1_Missense_Mutation_p.L3I	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	168					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity				0		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)												0.485437	135.331632	135.35107	50	53	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	Missense_Mutation	SNP	133607486	133607486	12823	10	C	A	A	32	32	PPP2R2D	A	3	3
PHYH	5264	broad.mit.edu	36	10	13363099	13363099	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:13363099G>A	uc001imf.1	-	c.846C>T	c.(844-846)TTC>TTT	p.F282F	PHYH_uc001ime.1_Silent_p.F182F|PHYH_uc001img.1_Silent_p.F265F	NM_006214	NP_001032626	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase isoform a precursor	282					fatty acid alpha-oxidation|nervous system development|response to stimulus|visual perception	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)									0.357664	131.230877	133.677804	49	88	GG		KEEP	---	---	---	---	capture			Silent	SNP	13363099	13363099	12288	10	G	A	A	37	37	PHYH	A	1	1
PHYH	5264	broad.mit.edu	36	10	13377518	13377518	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:13377518C>T	uc001imf.1	-	c.229G>A	c.(229-231)GAT>AAT	p.D77N	PHYH_uc001ime.1_5'UTR|PHYH_uc001img.1_Missense_Mutation_p.D58N	NM_006214	NP_001032626	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase isoform a precursor	77					fatty acid alpha-oxidation|nervous system development|response to stimulus|visual perception	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)									0.455172	189.849334	190.100256	66	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13377518	13377518	12288	10	C	T	T	31	31	PHYH	T	1	1
JAKMIP3	282973	broad.mit.edu	36	10	133817316	133817316	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:133817316G>A	uc009yaz.1	+	c.2131G>A	c.(2131-2133)GAG>AAG	p.E711K	JAKMIP3_uc001lkx.2_Non-coding_Transcript|JAKMIP3_uc009yba.1_Missense_Mutation_p.E148K	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)												0.181818	96.476235	125.849112	56	252	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	Missense_Mutation	SNP	133817316	133817316	8246	10	G	A	A	37	37	JAKMIP3	A	1	1
DPYSL4	10570	broad.mit.edu	36	10	133862433	133862433	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:133862433C>T	uc009ybb.1	+	c.779C>T	c.(778-780)GCG>GTG	p.A260V		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	260					axon guidance	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)												0.45977	107.181551	107.304809	40	47	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	Missense_Mutation	SNP	133862433	133862433	4933	10	C	T	T	27	27	DPYSL4	T	1	1
SEPHS1	22929	broad.mit.edu	36	10	13404919	13404919	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:13404919G>T	uc001imk.1	-	c.886C>A	c.(886-888)CTG>ATG	p.L296M	SEPHS1_uc001imh.1_Missense_Mutation_p.L220M|SEPHS1_uc001imi.1_Missense_Mutation_p.L294M|SEPHS1_uc001imj.1_Missense_Mutation_p.L296M	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	296					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity				0														0.40367	121.571361	122.457471	44	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13404919	13404919	14540	10	G	T	T	34	34	SEPHS1	T	3	3
C10orf91	170393	broad.mit.edu	36	10	134111539	134111539	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134111539C>T	uc001llm.1	+	c.422C>T	c.(421-423)GCG>GTG	p.A141V		NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN	hypothetical protein LOC170393	141											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)												0.421569	226.958706	228.063249	86	118	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	Missense_Mutation	SNP	134111539	134111539	1661	10	C	T	T	27	27	C10orf91	T	1	1
SEPHS1	22929	broad.mit.edu	36	10	13426921	13426921	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:13426921G>A	uc001imk.1	-	c.36C>T	c.(34-36)TAC>TAT	p.Y12Y	SEPHS1_uc001imi.1_Silent_p.Y12Y|SEPHS1_uc001imj.1_Silent_p.Y12Y|SEPHS1_uc009xje.1_Silent_p.Y12Y	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	12					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity				0														0.204142	133.092515	160.557132	69	269	GG		KEEP	---	---	---	---	capture			Silent	SNP	13426921	13426921	14540	10	G	A	A	40	40	SEPHS1	A	1	1
INPP5A	3632	broad.mit.edu	36	10	134444352	134444352	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134444352G>A	uc001llp.1	+	c.1099G>A	c.(1099-1101)GAG>AAG	p.E367K	INPP5A_uc001llq.1_Missense_Mutation_p.E262K	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	367					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding				0		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)				Pancreas(63;823 1267 11107 20380 51626)								0.414085	405.844586	408.135832	147	208	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	Missense_Mutation	SNP	134444352	134444352	8055	10	G	A	A	37	37	INPP5A	A	1	1
KNDC1	85442	broad.mit.edu	36	10	134861252	134861252	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134861252G>A	uc001llz.1	+	c.1896G>A	c.(1894-1896)GAG>GAA	p.E632E	KNDC1_uc001lma.1_Silent_p.E567E|KNDC1_uc001lmb.1_Silent_p.E44E	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	632					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)												0.208333	57.357343	68.646266	30	114	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	Silent	SNP	134861252	134861252	8740	10	G	A	A	34	34	KNDC1	A	2	2
KNDC1	85442	broad.mit.edu	36	10	134861976	134861976	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134861976G>T	uc001llz.1	+	c.2052G>T	c.(2050-2052)CAG>CAT	p.Q684H	KNDC1_uc001lma.1_Missense_Mutation_p.Q619H|KNDC1_uc001lmb.1_Missense_Mutation_p.Q96H	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	684					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)												0.473684	23.470376	23.482025	9	10	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	Missense_Mutation	SNP	134861976	134861976	8740	10	G	T	T	33	33	KNDC1	T	3	3
KNDC1	85442	broad.mit.edu	36	10	134863897	134863897	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134863897G>A	uc001llz.1	+	c.2932G>A	c.(2932-2934)GAG>AAG	p.E978K	KNDC1_uc001lma.1_Missense_Mutation_p.E913K|KNDC1_uc001lmb.1_Missense_Mutation_p.E390K	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	978					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)												0.4	26.2444	26.463008	10	15	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	Missense_Mutation	SNP	134863897	134863897	8740	10	G	A	A	37	37	KNDC1	A	1	1
KNDC1	85442	broad.mit.edu	36	10	134877472	134877472	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134877472C>A	uc001llz.1	+	c.4533C>A	c.(4531-4533)AGC>AGA	p.S1511R		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1511	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)												0.205882	123.090966	147.721906	63	243	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	Missense_Mutation	SNP	134877472	134877472	8740	10	C	A	A	28	28	KNDC1	A	3	3
ADAM8	101	broad.mit.edu	36	10	134936330	134936330	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134936330G>A	uc001lme.1	-	c.667C>T	c.(667-669)CGT>TGT	p.R223C	ADAM8_uc009ybi.1_Missense_Mutation_p.R223C|ADAM8_uc009ybj.1_Non-coding_Transcript	NM_001109	NP_001100	Q14C66	Q14C66_HUMAN	ADAM metallopeptidase domain 8 precursor	223					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2		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)												0.256098	43.256178	47.671032	21	61	GG		KEEP	---	---	---	---	capture		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	Missense_Mutation	SNP	134936330	134936330	253	10	G	A	A	38	38	ADAM8	A	1	1
ADAM8	101	broad.mit.edu	36	10	134937472	134937472	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134937472G>A	uc001lme.1	-	c.279C>T	c.(277-279)TCC>TCT	p.S93S	ADAM8_uc009ybi.1_Silent_p.S93S|ADAM8_uc009ybj.1_Non-coding_Transcript	NM_001109	NP_001100	Q14C66	Q14C66_HUMAN	ADAM metallopeptidase domain 8 precursor	93					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2		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)												0.388889	17.320014	17.514811	7	11	GG		KEEP	---	---	---	---	capture		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	Silent	SNP	134937472	134937472	253	10	G	A	A	39	39	ADAM8	A	1	1
TUBGCP2	10844	broad.mit.edu	36	10	134944859	134944859	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134944859C>A	uc009ybk.1	-	c.2550G>T	c.(2548-2550)AAG>AAT	p.K850N	TUBGCP2_uc001lmf.1_Missense_Mutation_p.K420N|TUBGCP2_uc001lmg.1_Missense_Mutation_p.K827N|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	827					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	cytoplasmic microtubule|cytosol|microtubule organizing center|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)												0.187919	47.00225	60.603675	28	121	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	Missense_Mutation	SNP	134944859	134944859	17321	10	C	A	A	32	32	TUBGCP2	A	3	3
TUBGCP2	10844	broad.mit.edu	36	10	134947454	134947454	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134947454G>A	uc009ybk.1	-	c.2136C>T	c.(2134-2136)TTC>TTT	p.F712F	TUBGCP2_uc001lmf.1_Silent_p.F282F|TUBGCP2_uc001lmg.1_Silent_p.F689F|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	689					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	cytoplasmic microtubule|cytosol|microtubule organizing center|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)												0.2	47.402618	57.872797	25	100	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	Silent	SNP	134947454	134947454	17321	10	G	A	A	37	37	TUBGCP2	A	1	1
TUBGCP2	10844	broad.mit.edu	36	10	134956062	134956062	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134956062G>A	uc009ybk.1	-	c.1145C>T	c.(1144-1146)GCG>GTG	p.A382V	TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc001lmg.1_Missense_Mutation_p.A382V|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	382					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	cytoplasmic microtubule|cytosol|microtubule organizing center|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)												0.401869	111.992913	112.896258	43	64	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	Missense_Mutation	SNP	134956062	134956062	17321	10	G	A	A	38	38	TUBGCP2	A	1	1
TUBGCP2	10844	broad.mit.edu	36	10	134956598	134956598	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134956598G>A	uc009ybk.1	-	c.959C>T	c.(958-960)TCG>TTG	p.S320L	TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc001lmg.1_Missense_Mutation_p.S320L|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	320					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	cytoplasmic microtubule|cytosol|microtubule organizing center|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)												0.212121	42.729175	50.308957	21	78	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	Missense_Mutation	SNP	134956598	134956598	17321	10	G	A	A	37	37	TUBGCP2	A	1	1
PRAP1	118471	broad.mit.edu	36	10	135015531	135015531	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:135015531G>A	uc001lmp.1	+	c.159G>A	c.(157-159)CCG>CCA	p.P53P	PRAP1_uc001lmq.1_Silent_p.P25P|PRAP1_uc001lmr.1_Silent_p.P24P	NM_145202	NP_660203	Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1 isoform 1	53						extracellular region					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)												0.166667	49.221984	66.902791	28	140	GG		KEEP	---	---	---	---	capture		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)	Silent	SNP	135015531	135015531	12883	10	G	A	A	39	39	PRAP1	A	1	1
ECHS1	1892	broad.mit.edu	36	10	135033452	135033452	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:135033452C>T	uc001lmu.1	-	c.360G>A	c.(358-360)TGG>TGA	p.W120*		NM_004092	NP_004083	P30084	ECHM_HUMAN	mitochondrial short-chain enoyl-coenzyme A	120					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)				GBM(132;1720 1771 5373 10277 21402)								0.456522	249.185443	249.487173	84	100	CC		KEEP	---	---	---	---	capture		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	Nonsense_Mutation	SNP	135033452	135033452	5083	10	C	T	T	22	22	ECHS1	T	5	2
CYP2E1	1571	broad.mit.edu	36	10	135192129	135192129	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:135192129A>C	uc001lnj.1	+	c.332A>C	c.(331-333)GAC>GCC	p.D111A	CYP2E1_uc001lnk.1_Intron|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'Flank	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	111					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidation-reduction 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)			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)									0.196262	50.107709	59.324793	21	86	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Missense_Mutation	SNP	135192129	135192129	4335	10	A	C	C	10	10	CYP2E1	C	4	4
CYP2E1	1571	broad.mit.edu	36	10	135196325	135196325	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:135196325G>A	uc001lnj.1	+	c.788G>A	c.(787-789)CGG>CAG	p.R263Q	CYP2E1_uc001lnk.1_Missense_Mutation_p.R126Q|CYP2E1_uc009ybl.1_Missense_Mutation_p.R64Q|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.R64Q	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	263					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidation-reduction 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)			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)									0.425926	212.055562	212.829269	69	93	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Missense_Mutation	SNP	135196325	135196325	4335	10	G	A	A	39	39	CYP2E1	A	1	1
FRMD4A	55691	broad.mit.edu	36	10	13738694	13738694	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:13738694G>A	uc001ims.1	-	c.2901C>T	c.(2899-2901)TTC>TTT	p.F967F	FRMD4A_uc009xjf.1_Silent_p.F967F	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	967	Ser-rich.					cytoplasm|cytoskeleton	binding			ovary(1)|pancreas(1)	2														0.655172	56.730532	57.347179	19	10	GG		KEEP	---	---	---	---	capture			Silent	SNP	13738694	13738694	6301	10	G	A	A	37	37	FRMD4A	A	1	1
ADARB2	105	broad.mit.edu	36	10	1395733	1395733	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1395733G>A	uc009xhq.1	-	c.567C>T	c.(565-567)TTC>TTT	p.F189F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	189	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)								191				0.428571	58.368667	58.586135	21	28	GG		KEEP	---	---	---	---	capture		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Silent	SNP	1395733	1395733	284	10	G	A	A	37	37	ADARB2	A	1	1
ADARB2	105	broad.mit.edu	36	10	1395832	1395832	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1395832G>A	uc009xhq.1	-	c.468C>T	c.(466-468)TTC>TTT	p.F156F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	156	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)								191				0.431373	60.945092	61.153601	22	29	GG		KEEP	---	---	---	---	capture		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Silent	SNP	1395832	1395832	284	10	G	A	A	37	37	ADARB2	A	1	1
SUV39H2	79723	broad.mit.edu	36	10	14981582	14981582	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:14981582C>A	uc001inh.1	+	c.708C>A	c.(706-708)TTC>TTA	p.F236L	SUV39H2_uc001ing.1_Missense_Mutation_p.F116L|SUV39H2_uc001ini.1_Missense_Mutation_p.F236L|SUV39H2_uc001inj.1_Missense_Mutation_p.F236L	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2	296	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|ovary(1)	3														0.46281	308.152357	308.445967	112	130	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14981582	14981582	15933	10	C	A	A	32	32	SUV39H2	A	3	3
DCLRE1C	64421	broad.mit.edu	36	10	15017512	15017512	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:15017512C>T	uc001inn.1	-	c.420G>A	c.(418-420)GCG>GCA	p.A140A	DCLRE1C_uc001inl.1_Silent_p.A20A|DCLRE1C_uc001inm.1_Silent_p.A20A|DCLRE1C_uc001ino.1_Silent_p.A25A|DCLRE1C_uc009xjh.1_Non-coding_Transcript|DCLRE1C_uc001inp.1_Silent_p.A20A|DCLRE1C_uc001inq.1_Silent_p.A20A|DCLRE1C_uc001inr.1_Silent_p.A25A|DCLRE1C_uc009xji.1_Silent_p.A25A|DCLRE1C_uc009xjj.1_5'Flank	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	140			A -> V.		DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1														0.165929	123.736319	171.607243	75	377	CC		KEEP	---	---	---	---	capture			Silent	SNP	15017512	15017512	4467	10	C	T	T	27	27	DCLRE1C	T	1	1
NMT2	9397	broad.mit.edu	36	10	15212264	15212264	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:15212264G>A	uc001inz.1	-	c.773C>T	c.(772-774)TCG>TTG	p.S258L	NMT2_uc001ioa.1_Missense_Mutation_p.S245L|NMT2_uc009xjo.1_Missense_Mutation_p.S258L	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	258					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						Melanoma(117;1345 1645 4130 12688 30625)								0.224852	82.553317	94.316712	38	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15212264	15212264	10907	10	G	A	A	37	37	NMT2	A	1	1
FAM171A1	221061	broad.mit.edu	36	10	15330777	15330777	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:15330777G>A	uc001iob.1	-	c.621C>T	c.(619-621)AGC>AGT	p.S207S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061	207	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)	3														0.213018	69.916402	82.775528	36	133	GG		KEEP	---	---	---	---	capture			Silent	SNP	15330777	15330777	5695	10	G	A	A	38	38	FAM171A1	A	1	1
ITGA8	8516	broad.mit.edu	36	10	15640111	15640111	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:15640111C>T	uc001ioc.1	-	c.2734G>A	c.(2734-2736)GAA>AAA	p.E912K		NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	912	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														0.199052	82.22489	100.015654	42	169	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15640111	15640111	8186	10	C	T	T	31	31	ITGA8	T	1	1
ITGA8	8516	broad.mit.edu	36	10	15801631	15801631	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:15801631T>C	uc001ioc.1	-	c.146A>G	c.(145-147)TAC>TGC	p.Y49C		NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	49	Extracellular (Potential).|FG-GAP 1.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.351351	38.773357	39.490029	13	24	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15801631	15801631	8186	10	T	C	C	57	57	ITGA8	C	4	4
PTER	9317	broad.mit.edu	36	10	16593154	16593154	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:16593154C>T	uc001iog.1	+	c.943C>T	c.(943-945)CAT>TAT	p.H315Y	PTER_uc001ioh.1_Missense_Mutation_p.H315Y|PTER_uc001ioi.1_Missense_Mutation_p.H315Y|PTER_uc009xjp.1_Missense_Mutation_p.H268Y	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	315					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						Ovarian(2;46 150 15648 38137 47908)								0.473373	223.079931	223.18419	80	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16593154	16593154	13193	10	C	T	T	29	29	PTER	T	2	2
CUBN	8029	broad.mit.edu	36	10	16956478	16956478	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:16956478C>T	uc001ioo.1	-	c.9137G>A	c.(9136-9138)GGA>GAA	p.G3046E	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.G402E	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin	3046	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.219251	90.17742	103.755704	41	146	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16956478	16956478	4211	10	C	T	T	30	30	CUBN	T	2	2
CUBN	8029	broad.mit.edu	36	10	16982746	16982746	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:16982746C>T	uc001ioo.1	-	c.8294G>A	c.(8293-8295)GGA>GAA	p.G2765E	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.G121E	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin	2765	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.204545	74.392452	88.659169	36	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16982746	16982746	4211	10	C	T	T	30	30	CUBN	T	2	2
CUBN	8029	broad.mit.edu	36	10	16988355	16988355	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:16988355C>T	uc001ioo.1	-	c.7765G>A	c.(7765-7767)GGA>AGA	p.G2589R	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_5'UTR	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin	2589	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.17	64.135599	84.736856	34	166	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16988355	16988355	4211	10	C	T	T	23	23	CUBN	T	1	1
CUBN	8029	broad.mit.edu	36	10	17019659	17019659	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17019659C>T	uc001ioo.1	-	c.5864G>A	c.(5863-5865)GGA>GAA	p.G1955E		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin	1955	CUB 13.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.146341	27.279446	42.059614	18	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17019659	17019659	4211	10	C	T	T	30	30	CUBN	T	2	2
CUBN	8029	broad.mit.edu	36	10	17030595	17030595	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17030595G>A	uc001ioo.1	-	c.5097C>T	c.(5095-5097)ACC>ACT	p.T1699T		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin	1699	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.236111	43.838807	48.422225	17	55	GG		KEEP	---	---	---	---	capture			Silent	SNP	17030595	17030595	4211	10	G	A	A	39	39	CUBN	A	1	1
CUBN	8029	broad.mit.edu	36	10	17066171	17066171	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17066171G>A	uc001ioo.1	-	c.4464C>T	c.(4462-4464)TTC>TTT	p.F1488F		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin	1488	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)				p.F1488L(TE441.T-Tumor)	2704				0.196141	117.974959	144.759436	61	250	GG		KEEP	---	---	---	---	capture			Silent	SNP	17066171	17066171	4211	10	G	A	A	45	45	CUBN	A	2	2
CUBN	8029	broad.mit.edu	36	10	17153924	17153924	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17153924G>A	uc001ioo.1	-	c.2354C>T	c.(2353-2355)TCT>TTT	p.S785F		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin	785	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.19697	53.066363	64.36554	26	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17153924	17153924	4211	10	G	A	A	33	33	CUBN	A	2	2
TRDMT1	1787	broad.mit.edu	36	10	17239570	17239570	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17239570C>A	uc001iop.1	-	c.763G>T	c.(763-765)GAT>TAT	p.D255Y	TRDMT1_uc001ioq.1_Missense_Mutation_p.D231Y|TRDMT1_uc001ior.1_Missense_Mutation_p.D209Y|TRDMT1_uc001ios.1_Missense_Mutation_p.D184Y	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	255						nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding|tRNA (cytosine-5-)-methyltransferase activity			ovary(1)	1														0.241071	56.458271	63.319376	27	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17239570	17239570	17011	10	C	A	A	32	32	TRDMT1	A	3	3
VIM	7431	broad.mit.edu	36	10	17316716	17316716	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17316716G>A	uc001iou.1	+	c.901G>A	c.(901-903)GCT>ACT	p.A301T	VIM_uc001ioz.1_Non-coding_Transcript|VIM_uc001iov.1_Missense_Mutation_p.A301T|VIM_uc001iow.1_Non-coding_Transcript|VIM_uc001iox.1_Missense_Mutation_p.A301T|VIM_uc001ioy.1_Missense_Mutation_p.A301T|VIM_uc001ipb.1_Non-coding_Transcript|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Missense_Mutation_p.A301T|VIM_uc001ipa.1_Missense_Mutation_p.A301T	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	301	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4														0.188	88.721866	111.476461	47	203	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17316716	17316716	17733	10	G	A	A	42	42	VIM	A	2	2
ST8SIA6	338596	broad.mit.edu	36	10	17413510	17413510	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17413510G>T	uc001ipd.1	-	c.425C>A	c.(424-426)TCT>TAT	p.S142Y		NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	142	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1														0.408451	151.092758	152.139705	58	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17413510	17413510	15754	10	G	T	T	33	33	ST8SIA6	T	3	3
MRC1	4360	broad.mit.edu	36	10	17931758	17931758	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17931758C>A	uc001ipk.1	+	c.1233C>A	c.(1231-1233)ATC>ATA	p.I411I		NM_002438	NP_001009567	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	411	Extracellular (Potential).|C-type lectin 2.				receptor-mediated endocytosis	integral to plasma membrane	mannose binding|receptor activity				0						GBM(115;1153 1594 28187 28781 35884)								0.892593	727.699769	768.943352	241	29	CC		KEEP	---	---	---	---	capture			Silent	SNP	17931758	17931758	10148	10	C	A	A	32	32	MRC1	A	3	3
SLC39A12	221074	broad.mit.edu	36	10	18290576	18290576	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:18290576G>T	uc001ipo.1	+	c.322G>T	c.(322-324)GAA>TAA	p.E108*	SLC39A12_uc001ipn.1_Nonsense_Mutation_p.E108*|SLC39A12_uc001ipp.1_Nonsense_Mutation_p.E108*	NM_152725	NP_689938	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	108	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.184615	63.470743	81.682	36	159	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	18290576	18290576	15112	10	G	T	T	33	33	SLC39A12	T	5	3
SLC39A12	221074	broad.mit.edu	36	10	18306971	18306971	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:18306971G>T	uc001ipo.1	+	c.886G>T	c.(886-888)GAA>TAA	p.E296*	SLC39A12_uc001ipn.1_Nonsense_Mutation_p.E296*|SLC39A12_uc001ipp.1_Nonsense_Mutation_p.E296*	NM_152725	NP_689938	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	296	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.137931	36.119969	65.57369	32	200	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	18306971	18306971	15112	10	G	T	T	41	41	SLC39A12	T	5	3
SLC39A12	221074	broad.mit.edu	36	10	18316540	18316540	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:18316540C>T	uc001ipo.1	+	c.1223C>T	c.(1222-1224)GCC>GTC	p.A408V	SLC39A12_uc001ipn.1_Missense_Mutation_p.A408V|SLC39A12_uc001ipp.1_Missense_Mutation_p.A408V	NM_152725	NP_689938	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	408	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.415808	335.820587	337.620554	121	170	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18316540	18316540	15112	10	C	T	T	26	26	SLC39A12	T	2	2
NSUN6	221078	broad.mit.edu	36	10	18915009	18915009	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:18915009T>A	uc001iqc.1	-	c.797A>T	c.(796-798)GAT>GTT	p.D266V		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	266		S-adenosyl-L-methionine (By similarity).					methyltransferase activity|RNA binding			ovary(2)	2										16				0.171429	30.48418	41.204374	18	87	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18915009	18915009	11087	10	T	A	A	50	50	NSUN6	A	4	4
NSUN6	221078	broad.mit.edu	36	10	18943423	18943423	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:18943423C>A	uc001iqc.1	-	c.547G>T	c.(547-549)GAA>TAA	p.E183*		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	183	PUA.						methyltransferase activity|RNA binding			ovary(2)	2										16				0.368794	133.748114	135.887209	52	89	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	18943423	18943423	11087	10	C	A	A	32	32	NSUN6	A	5	3
ARL5B	221079	broad.mit.edu	36	10	19002945	19002945	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:19002945C>A	uc001iqd.1	+	c.366C>A	c.(364-366)ATC>ATA	p.I122I		NM_178815	NP_848930	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 8	122					small GTPase mediated signal transduction	intracellular	GTP binding			ovary(1)	1														0.156863	35.005216	52.198919	24	129	CC		KEEP	---	---	---	---	capture			Silent	SNP	19002945	19002945	957	10	C	A	A	32	32	ARL5B	A	3	3
NEBL	10529	broad.mit.edu	36	10	21187186	21187186	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:21187186T>G	uc001iqi.1	-	c.892A>C	c.(892-894)ATG>CTG	p.M298L	NEBL_uc001iqk.1_Intron|NEBL_uc001iqj.1_Non-coding_Transcript	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	298	Nebulin 8.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2														0.240385	73.233616	79.622231	25	79	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21187186	21187186	10702	10	T	G	G	52	52	NEBL	G	4	4
DNAJC1	64215	broad.mit.edu	36	10	22088431	22088431	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:22088431C>T	uc001irc.1	-	c.1270G>A	c.(1270-1272)GAG>AAG	p.E424K	DNAJC1_uc001ird.1_Missense_Mutation_p.E310K	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	424	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)												0.198582	53.112775	65.047206	28	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22088431	22088431	4811	10	C	T	T	30	30	DNAJC1	T	2	2
DNAJC1	64215	broad.mit.edu	36	10	22088516	22088516	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:22088516C>T	uc001irc.1	-	c.1185G>A	c.(1183-1185)CAG>CAA	p.Q395Q	DNAJC1_uc001ird.1_Silent_p.Q281Q	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	395	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)												0.238411	85.315094	94.760702	36	115	CC		KEEP	---	---	---	---	capture			Silent	SNP	22088516	22088516	4811	10	C	T	T	32	32	DNAJC1	T	2	2
DNAJC1	64215	broad.mit.edu	36	10	22134959	22134959	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:22134959G>A	uc001irc.1	-	c.1054C>T	c.(1054-1056)CGA>TGA	p.R352*	DNAJC1_uc001ird.1_Nonsense_Mutation_p.R238*	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	352	Cytoplasmic (By similarity).|SANT 1.				negative regulation of proteolysis|regulation of protein secretion	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)												0.376238	207.248272	209.964348	76	126	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	22134959	22134959	4811	10	G	A	A	37	37	DNAJC1	A	5	1
SPAG6	9576	broad.mit.edu	36	10	22693796	22693796	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:22693796T>C	uc001iri.1	+	c.130T>C	c.(130-132)TCT>CCT	p.S44P	SPAG6_uc001irj.1_Missense_Mutation_p.S44P|SPAG6_uc009xkh.1_Missense_Mutation_p.S22P	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	44	ARM 1.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1														0.441718	237.490993	237.971131	72	91	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22693796	22693796	15485	10	T	C	C	58	58	SPAG6	C	4	4
PIP4K2A	5305	broad.mit.edu	36	10	22866171	22866171	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:22866171G>A	uc001irl.2	-	c.1186C>T	c.(1186-1188)CGC>TGC	p.R396C		NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	396	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2										213				0.37037	50.28004	51.079448	20	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22866171	22866171	12360	10	G	A	A	38	38	PIP4K2A	A	1	1
PIP4K2A	5305	broad.mit.edu	36	10	23043184	23043184	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:23043184C>A	uc001irl.2	-	c.78G>T	c.(76-78)CAG>CAT	p.Q26H		NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	26							1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2										213				0.432432	83.777911	84.07423	32	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23043184	23043184	12360	10	C	A	A	32	32	PIP4K2A	A	3	3
ARMC3	219681	broad.mit.edu	36	10	23290954	23290954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:23290954C>T	uc001irm.2	+	c.673C>T	c.(673-675)CGA>TGA	p.R225*		NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	225	ARM 6.						binding				0														0.193548	35.995354	44.148306	18	75	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	23290954	23290954	970	10	C	T	T	31	31	ARMC3	T	5	1
ARMC3	219681	broad.mit.edu	36	10	23297387	23297387	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:23297387G>T	uc001irm.2	+	c.879G>T	c.(877-879)AAG>AAT	p.K293N		NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	293	ARM 7.						binding				0														0.193103	49.507771	62.268715	28	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23297387	23297387	970	10	G	T	T	33	33	ARMC3	T	3	3
ARMC3	219681	broad.mit.edu	36	10	23337796	23337796	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:23337796G>T	uc001irm.2	+	c.1975G>T	c.(1975-1977)GAC>TAC	p.D659Y		NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	659							binding				0														0.342466	61.64343	63.248435	25	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23337796	23337796	970	10	G	T	T	33	33	ARMC3	T	3	3
ZMYND11	10771	broad.mit.edu	36	10	245911	245911	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:245911G>A	uc009xhg.1	+	c.148G>A	c.(148-150)GAA>AAA	p.E50K	ZMYND11_uc001ifj.1_Missense_Mutation_p.E27K|ZMYND11_uc001ifk.1_Missense_Mutation_p.E67K|ZMYND11_uc001ifl.1_Missense_Mutation_p.E27K|ZMYND11_uc009xhf.1_Missense_Mutation_p.E27K|ZMYND11_uc001ifm.1_Missense_Mutation_p.E67K|ZMYND11_uc001ifn.1_Missense_Mutation_p.E67K|ZMYND11_uc009xhh.1_Missense_Mutation_p.E21K	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	27					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)												0.510135	442.33202	442.358968	151	145	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	Missense_Mutation	SNP	245911	245911	18297	10	G	A	A	37	37	ZMYND11	A	1	1
KIAA1217	56243	broad.mit.edu	36	10	24802791	24802791	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24802791C>T	uc001iru.2	+	c.1475C>T	c.(1474-1476)GCC>GTC	p.A492V	KIAA1217_uc001irs.1_Missense_Mutation_p.A412V|KIAA1217_uc001irt.2_Missense_Mutation_p.A492V|KIAA1217_uc009xki.1_Missense_Mutation_p.A412V|KIAA1217_uc001irv.1_Missense_Mutation_p.A342V|KIAA1217_uc001irw.2_Missense_Mutation_p.A210V|KIAA1217_uc001irx.2_Missense_Mutation_p.A210V|KIAA1217_uc001iry.2_Missense_Mutation_p.A210V|KIAA1217_uc001irz.2_Missense_Mutation_p.A210V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	492					embryonic skeletal system development	cytoplasm				ovary(5)	5														0.21134	80.350117	95.323906	41	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24802791	24802791	8524	10	C	T	T	26	26	KIAA1217	T	2	2
KIAA1217	56243	broad.mit.edu	36	10	24865802	24865802	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24865802G>A	uc001iru.2	+	c.3508G>A	c.(3508-3510)GCC>ACC	p.A1170T	KIAA1217_uc001irs.1_Intron|KIAA1217_uc001irt.2_Intron|KIAA1217_uc009xki.1_Missense_Mutation_p.A1055T|KIAA1217_uc001irw.2_Missense_Mutation_p.A853T|KIAA1217_uc001irx.2_Missense_Mutation_p.A853T|KIAA1217_uc001iry.2_Missense_Mutation_p.A853T|KIAA1217_uc001irz.2_Intron	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1170					embryonic skeletal system development	cytoplasm				ovary(5)	5														0.37766	181.270901	183.742219	71	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24865802	24865802	8524	10	G	A	A	38	38	KIAA1217	A	1	1
KIAA1217	56243	broad.mit.edu	36	10	24872235	24872235	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24872235G>T	uc001iru.2	+	c.4030G>T	c.(4030-4032)GAT>TAT	p.D1344Y	KIAA1217_uc001irs.1_Intron|KIAA1217_uc001irt.2_Intron|KIAA1217_uc009xki.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.D1027Y|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.D180Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1344					embryonic skeletal system development	cytoplasm				ovary(5)	5														0.179389	79.445474	104.809094	47	215	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24872235	24872235	8524	10	G	T	T	33	33	KIAA1217	T	3	3
KIAA1217	56243	broad.mit.edu	36	10	24872677	24872677	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24872677C>T	uc001iru.2	+	c.4472C>T	c.(4471-4473)TCT>TTT	p.S1491F	KIAA1217_uc001irs.1_Intron|KIAA1217_uc001irt.2_Intron|KIAA1217_uc009xki.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.S1174F|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.S327F	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1491					embryonic skeletal system development	cytoplasm				ovary(5)	5														0.138462	14.427772	22.643964	9	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24872677	24872677	8524	10	C	T	T	32	32	KIAA1217	T	2	2
KIAA1217	56243	broad.mit.edu	36	10	24874033	24874033	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24874033C>T	uc001iru.2	+	c.5329C>T	c.(5329-5331)CGT>TGT	p.R1777C	KIAA1217_uc001irs.1_Missense_Mutation_p.R1098C|KIAA1217_uc001irt.2_Missense_Mutation_p.R1143C|KIAA1217_uc009xki.1_Missense_Mutation_p.R1103C|KIAA1217_uc001irw.2_Missense_Mutation_p.R927C|KIAA1217_uc001irx.2_Missense_Mutation_p.R1460C|KIAA1217_uc001iry.2_Missense_Mutation_p.R901C|KIAA1217_uc001irz.2_Missense_Mutation_p.R861C	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1777					embryonic skeletal system development	cytoplasm				ovary(5)	5														0.454545	254.723732	255.079935	90	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24874033	24874033	8524	10	C	T	T	31	31	KIAA1217	T	1	1
ARHGAP21	57584	broad.mit.edu	36	10	24914372	24914372	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24914372C>T	uc001isb.1	-	c.4849G>A	c.(4849-4851)GAG>AAG	p.E1617K		NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1617	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8														0.224409	121.73712	139.476829	57	197	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24914372	24914372	882	10	C	T	T	31	31	ARHGAP21	T	1	1
ARHGAP21	57584	broad.mit.edu	36	10	24920929	24920929	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24920929C>A	uc001isb.1	-	c.3892G>T	c.(3892-3894)GCA>TCA	p.A1298S		NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1298	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8														0.476923	267.954361	268.045039	93	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24920929	24920929	882	10	C	A	A	28	28	ARHGAP21	A	3	3
ARHGAP21	57584	broad.mit.edu	36	10	24924915	24924915	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24924915C>A	uc001isb.1	-	c.3538G>T	c.(3538-3540)GGT>TGT	p.G1180C		NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1180	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8														0.187097	53.373499	67.599186	29	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24924915	24924915	882	10	C	A	A	24	24	ARHGAP21	A	3	3
ARHGAP21	57584	broad.mit.edu	36	10	24948896	24948896	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24948896G>T	uc001isb.1	-	c.1931C>A	c.(1930-1932)TCT>TAT	p.S644Y	ARHGAP21_uc009xkl.1_Missense_Mutation_p.S645Y|ARHGAP21_uc001isc.1_Missense_Mutation_p.S635Y	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	644					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8														0.18595	79.515483	101.906585	45	197	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24948896	24948896	882	10	G	T	T	33	33	ARHGAP21	T	3	3
THNSL1	79896	broad.mit.edu	36	10	25352953	25352953	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:25352953C>A	uc001isi.2	+	c.795C>A	c.(793-795)CTC>CTA	p.L265L	ENKUR_uc001ish.1_Intron|THNSL1_uc009xkn.1_Silent_p.L265L	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	265					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)									0.214286	81.338955	96.123695	42	154	CC		KEEP	---	---	---	---	capture			Silent	SNP	25352953	25352953	16390	10	C	A	A	32	32	THNSL1	A	3	3
GPR158	57512	broad.mit.edu	36	10	25741364	25741364	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:25741364G>A	uc001isj.1	+	c.1291G>A	c.(1291-1293)GAC>AAC	p.D431N		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	431	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.365801	445.055191	452.369035	169	293	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25741364	25741364	6938	10	G	A	A	37	37	GPR158	A	1	1
GPR158	57512	broad.mit.edu	36	10	25927252	25927252	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:25927252G>A	uc001isj.1	+	c.2691G>A	c.(2689-2691)TCG>TCA	p.S897S	GPR158_uc001isk.1_Silent_p.S272S	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	897	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.21902	158.61613	183.862404	76	271	GG		KEEP	---	---	---	---	capture			Silent	SNP	25927252	25927252	6938	10	G	A	A	37	37	GPR158	A	1	1
MYO3A	53904	broad.mit.edu	36	10	26345802	26345802	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:26345802G>A	uc001isn.2	+	c.556G>A	c.(556-558)GTA>ATA	p.V186I	MYO3A_uc001ism.2_Missense_Mutation_p.V186I|MYO3A_uc009xko.1_Missense_Mutation_p.V186I|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.V186I	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	186	Protein kinase.				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)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.177419	78.147194	102.462233	44	204	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26345802	26345802	10471	10	G	A	A	40	40	MYO3A	A	1	1
MYO3A	53904	broad.mit.edu	36	10	26397702	26397702	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:26397702G>T	uc001isn.2	+	c.1054_splice	c.e12-1	p.N352_splice	MYO3A_uc009xko.1_Splice_Site_SNP_p.N352_splice|MYO3A_uc009xkp.1_Splice_Site_SNP|MYO3A_uc009xkq.1_Splice_Site_SNP_p.N352_splice	NM_017433	NP_059129			myosin IIIA						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)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14									(HEC251-Tumor)	781				0.195122	59.194089	73.422611	32	132	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	26397702	26397702	10471	10	G	T	T	33	33	MYO3A	T	5	3
MYO3A	53904	broad.mit.edu	36	10	26502634	26502634	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:26502634C>A	uc001isn.2	+	c.3435C>A	c.(3433-3435)ATC>ATA	p.I1145I	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1145					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)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.270833	59.499272	64.052661	26	70	CC		KEEP	---	---	---	---	capture			Silent	SNP	26502634	26502634	10471	10	C	A	A	32	32	MYO3A	A	3	3
MYO3A	53904	broad.mit.edu	36	10	26502942	26502942	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:26502942G>T	uc001isn.2	+	c.3743G>T	c.(3742-3744)AGG>ATG	p.R1248M	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1248					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)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.44186	157.747724	158.129106	57	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26502942	26502942	10471	10	G	T	T	35	35	MYO3A	T	3	3
GAD2	2572	broad.mit.edu	36	10	26621885	26621885	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:26621885A>G	uc001isp.1	+	c.1543A>G	c.(1543-1545)ACT>GCT	p.T515A	GAD2_uc001isq.1_Missense_Mutation_p.T515A	NM_000818	NP_000809	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	515					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)	1					L-Glutamic Acid(DB00142)									0.165029	174.203506	228.375148	84	425	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26621885	26621885	6431	10	A	G	G	14	14	GAD2	G	4	4
APBB1IP	54518	broad.mit.edu	36	10	26840789	26840789	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:26840789T>C	uc001iss.1	+	c.639T>C	c.(637-639)TGT>TGC	p.C213C	APBB1IP_uc009xks.1_Silent_p.C213C	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	213	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7										307				0.154506	62.761134	89.335931	36	197	TT		KEEP	---	---	---	---	capture			Silent	SNP	26840789	26840789	770	10	T	C	C	59	59	APBB1IP	C	4	4
APBB1IP	54518	broad.mit.edu	36	10	26870530	26870530	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:26870530T>G	uc001iss.1	+	c.1058T>G	c.(1057-1059)CTG>CGG	p.L353R	APBB1IP_uc009xks.1_Missense_Mutation_p.L353R	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	353	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7										307				0.1625	21.92004	30.58859	13	67	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26870530	26870530	770	10	T	G	G	55	55	APBB1IP	G	4	4
ANKRD26	22852	broad.mit.edu	36	10	27372483	27372483	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:27372483G>T	uc009xku.1	-	c.2039C>A	c.(2038-2040)TCT>TAT	p.S680Y	ANKRD26_uc001itg.2_Missense_Mutation_p.S366Y|ANKRD26_uc001ith.2_Missense_Mutation_p.S679Y	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	679										large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4														0.25	49.373315	54.606894	23	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27372483	27372483	659	10	G	T	T	33	33	ANKRD26	T	3	3
ANKRD26	22852	broad.mit.edu	36	10	27429084	27429084	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:27429084C>T	uc009xku.1	-	c.178G>A	c.(178-180)GCG>ACG	p.A60T	ANKRD26_uc001ith.2_Missense_Mutation_p.A60T	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	60	ANK 1.									large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4														0.261261	201.812826	218.969933	87	246	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27429084	27429084	659	10	C	T	T	26	26	ANKRD26	T	2	2
YME1L1	10730	broad.mit.edu	36	10	27449418	27449418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:27449418G>A	uc001iti.1	-	c.1534C>T	c.(1534-1536)CGA>TGA	p.R512*	YME1L1_uc001itj.1_Nonsense_Mutation_p.R455*|YME1L1_uc009xkv.1_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	512					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1														0.385827	133.403359	134.833427	49	78	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27449418	27449418	18070	10	G	A	A	37	37	YME1L1	A	5	1
ACBD5	91452	broad.mit.edu	36	10	27547043	27547043	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:27547043C>T	uc001itn.1	-	c.596G>A	c.(595-597)GGC>GAC	p.G199D	ACBD5_uc001ito.1_Missense_Mutation_p.G199D|ACBD5_uc001itp.1_Missense_Mutation_p.G125D|ACBD5_uc001itq.1_Missense_Mutation_p.G125D|ACBD5_uc001itr.1_Missense_Mutation_p.G23D	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	243					transport	integral to membrane	fatty-acyl-CoA binding				0														0.366438	285.32839	289.915876	107	185	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27547043	27547043	126	10	C	T	T	26	26	ACBD5	T	2	2
ZMYND11	10771	broad.mit.edu	36	10	276898	276898	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:276898C>A	uc009xhg.1	+	c.768C>A	c.(766-768)TTC>TTA	p.F256L	ZMYND11_uc001ifj.1_Missense_Mutation_p.F233L|ZMYND11_uc001ifk.1_Missense_Mutation_p.F272L|ZMYND11_uc001ifl.1_Missense_Mutation_p.F233L|ZMYND11_uc009xhf.1_Missense_Mutation_p.F233L|ZMYND11_uc001ifm.1_Missense_Mutation_p.F219L|ZMYND11_uc001ifn.1_Missense_Mutation_p.F219L|ZMYND11_uc009xhh.1_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	233					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)												0.422857	200.904545	201.81651	74	101	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	Missense_Mutation	SNP	276898	276898	18297	10	C	A	A	32	32	ZMYND11	A	3	3
ARMC4	55130	broad.mit.edu	36	10	28265806	28265806	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:28265806C>A	uc009xky.1	-	c.2107G>T	c.(2107-2109)GAT>TAT	p.D703Y	ARMC4_uc001itz.1_Missense_Mutation_p.D703Y	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	703	HEAT.						binding			ovary(4)	4														0.239796	100.610547	112.739069	47	149	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28265806	28265806	971	10	C	A	A	32	32	ARMC4	A	3	3
ARMC4	55130	broad.mit.edu	36	10	28313185	28313185	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:28313185C>A	uc009xky.1	-	c.616G>T	c.(616-618)GAA>TAA	p.E206*	ARMC4_uc001itz.1_Nonsense_Mutation_p.E206*	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	206							binding			ovary(4)	4														0.207547	152.741041	182.167411	77	294	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	28313185	28313185	971	10	C	A	A	32	32	ARMC4	A	5	3
ARMC4	55130	broad.mit.edu	36	10	28323883	28323883	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:28323883G>A	uc009xky.1	-	c.195C>T	c.(193-195)CCC>CCT	p.P65P	ARMC4_uc001itz.1_Silent_p.P65P	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	65							binding			ovary(4)	4														0.204545	42.699741	49.827836	18	70	GG		KEEP	---	---	---	---	capture			Silent	SNP	28323883	28323883	971	10	G	A	A	35	35	ARMC4	A	2	2
SVIL	6840	broad.mit.edu	36	10	29817576	29817576	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:29817576G>A	uc001iut.1	-	c.4308C>T	c.(4306-4308)AGC>AGT	p.S1436S	SVIL_uc001iuu.1_Silent_p.S1010S|SVIL_uc009xlc.1_Silent_p.S228S	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1436	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)	5		Breast(68;0.103)												0.160714	14.037757	20.176476	9	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	29817576	29817576	15941	10	G	A	A	38	38	SVIL	A	1	1
SVIL	6840	broad.mit.edu	36	10	29819822	29819822	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:29819822G>A	uc001iut.1	-	c.4152C>T	c.(4150-4152)AAC>AAT	p.N1384N	SVIL_uc001iuu.1_Silent_p.N958N|SVIL_uc009xlc.1_Silent_p.N176N	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1384					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)	5		Breast(68;0.103)												0.142857	23.866626	39.358097	18	108	GG		KEEP	---	---	---	---	capture			Silent	SNP	29819822	29819822	15941	10	G	A	A	40	40	SVIL	A	1	1
SVIL	6840	broad.mit.edu	36	10	29852752	29852752	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:29852752G>A	uc001iut.1	-	c.2797C>T	c.(2797-2799)CCT>TCT	p.P933S	SVIL_uc001iuu.1_Missense_Mutation_p.P507S	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	933					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)	5		Breast(68;0.103)												0.435159	419.118004	420.378645	151	196	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29852752	29852752	15941	10	G	A	A	42	42	SVIL	A	2	2
KIAA1462	57608	broad.mit.edu	36	10	30355245	30355245	+	Missense_Mutation	SNP	C	T	T	rs61741026	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:30355245C>T	uc009xle.1	-	c.3838G>A	c.(3838-3840)GAC>AAC	p.D1280N	KIAA1462_uc001iuz.2_Missense_Mutation_p.D1142N|KIAA1462_uc001iux.2_Missense_Mutation_p.D1280N|KIAA1462_uc001iuy.2_Intron	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1280										ovary(4)	4														0.218274	88.620485	103.034697	43	154	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30355245	30355245	8543	10	C	T	T	31	31	KIAA1462	T	1	1
KIAA1462	57608	broad.mit.edu	36	10	30356401	30356401	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:30356401C>T	uc009xle.1	-	c.2682G>A	c.(2680-2682)CCG>CCA	p.P894P	KIAA1462_uc001iuz.2_Silent_p.P756P|KIAA1462_uc001iux.2_Silent_p.P894P|KIAA1462_uc001iuy.2_Intron	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	894										ovary(4)	4														0.226131	92.447498	106.182297	45	154	CC		KEEP	---	---	---	---	capture			Silent	SNP	30356401	30356401	8543	10	C	T	T	31	31	KIAA1462	T	1	1
KIAA1462	57608	broad.mit.edu	36	10	30358114	30358114	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:30358114G>A	uc009xle.1	-	c.969C>T	c.(967-969)GTC>GTT	p.V323V	KIAA1462_uc001iuz.2_Silent_p.V185V|KIAA1462_uc001iux.2_Silent_p.V323V|KIAA1462_uc001iuy.2_Intron	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	323	Pro-rich.									ovary(4)	4														0.450549	457.555579	458.341483	164	200	GG		KEEP	---	---	---	---	capture			Silent	SNP	30358114	30358114	8543	10	G	A	A	41	41	KIAA1462	A	2	2
KIAA1462	57608	broad.mit.edu	36	10	30358665	30358665	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:30358665C>T	uc009xle.1	-	c.418G>A	c.(418-420)GCC>ACC	p.A140T	KIAA1462_uc001iuz.2_Missense_Mutation_p.A2T|KIAA1462_uc001iux.2_Missense_Mutation_p.A140T|KIAA1462_uc001iuy.2_Intron	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	140										ovary(4)	4														0.184433	210.730001	265.788929	109	482	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30358665	30358665	8543	10	C	T	T	26	26	KIAA1462	T	2	2
ZNF438	220929	broad.mit.edu	36	10	31178430	31178430	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:31178430C>T	uc001ivl.1	-	c.910G>A	c.(910-912)GAG>AAG	p.E304K	ZNF438_uc001ivm.1_Missense_Mutation_p.E294K|ZNF438_uc001ivn.1_Missense_Mutation_p.E255K|ZNF438_uc001ivo.2_Intron|ZNF438_uc001ivp.2_Missense_Mutation_p.E294K|ZNF438_uc009xlg.1_Missense_Mutation_p.E304K	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)												0.204819	178.41897	211.99065	85	330	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31178430	31178430	18503	10	C	T	T	30	30	ZNF438	T	2	2
PFKP	5214	broad.mit.edu	36	10	3137644	3137644	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:3137644C>T	uc001igp.1	+	c.725C>T	c.(724-726)TCT>TTT	p.S242F	PFKP_uc001igq.1_Missense_Mutation_p.S234F|PFKP_uc009xhr.1_Missense_Mutation_p.S204F|PFKP_uc009xhs.1_Missense_Mutation_p.S26F|PFKP_uc009xht.1_5'Flank	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	242					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)	2														0.208145	102.599593	120.068585	46	175	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	Missense_Mutation	SNP	3137644	3137644	12188	10	C	T	T	32	32	PFKP	T	2	2
PFKP	5214	broad.mit.edu	36	10	3151006	3151006	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:3151006C>T	uc001igp.1	+	c.1475C>T	c.(1474-1476)GCC>GTC	p.A492V	PFKP_uc001igq.1_Missense_Mutation_p.A484V|PFKP_uc009xhr.1_Missense_Mutation_p.A454V|PFKP_uc009xhs.1_Missense_Mutation_p.A276V|PFKP_uc009xht.1_Missense_Mutation_p.A230V|PFKP_uc009xhu.1_5'UTR	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	492					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)	2														0.214815	60.302378	70.441589	29	106	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	Missense_Mutation	SNP	3151006	3151006	12188	10	C	T	T	26	26	PFKP	T	2	2
PFKP	5214	broad.mit.edu	36	10	3162059	3162059	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:3162059T>C	uc001igp.1	+	c.1732T>C	c.(1732-1734)TTC>CTC	p.F578L	PFKP_uc001igq.1_Missense_Mutation_p.F570L|PFKP_uc009xhr.1_Missense_Mutation_p.F540L|PFKP_uc009xhs.1_Missense_Mutation_p.F362L|PFKP_uc009xht.1_Missense_Mutation_p.F316L|PFKP_uc009xhu.1_Missense_Mutation_p.F84L	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	578					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)	2														0.172414	77.798314	98.408722	35	168	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	Missense_Mutation	SNP	3162059	3162059	12188	10	T	C	C	60	60	PFKP	C	4	4
ZEB1	6935	broad.mit.edu	36	10	31849839	31849839	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:31849839G>T	uc001ivu.2	+	c.1573G>T	c.(1573-1575)GGG>TGG	p.G525W	ZEB1_uc001ivr.2_Missense_Mutation_p.G306W|ZEB1_uc009xlj.1_Missense_Mutation_p.G450W|ZEB1_uc009xlk.1_Missense_Mutation_p.G306W|ZEB1_uc001ivs.2_Missense_Mutation_p.G524W|ZEB1_uc001ivt.2_Missense_Mutation_p.G306W|ZEB1_uc001ivv.2_Missense_Mutation_p.G504W|ZEB1_uc009xlo.1_Missense_Mutation_p.G507W|ZEB1_uc009xlp.1_Missense_Mutation_p.G508W	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	524					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				Ovarian(40;423 959 14296 36701 49589)								0.157635	49.256086	71.967284	32	171	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31849839	31849839	18211	10	G	T	T	35	35	ZEB1	T	3	3
ZEB1	6935	broad.mit.edu	36	10	31850676	31850676	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:31850676G>A	uc001ivu.2	+	c.2410G>A	c.(2410-2412)GCT>ACT	p.A804T	ZEB1_uc001ivr.2_Missense_Mutation_p.A585T|ZEB1_uc009xlj.1_Missense_Mutation_p.A729T|ZEB1_uc009xlk.1_Missense_Mutation_p.A585T|ZEB1_uc001ivs.2_Missense_Mutation_p.A803T|ZEB1_uc001ivt.2_Missense_Mutation_p.A585T|ZEB1_uc001ivv.2_Missense_Mutation_p.A783T|ZEB1_uc009xlo.1_Missense_Mutation_p.A786T|ZEB1_uc009xlp.1_Missense_Mutation_p.A787T	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	803					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				Ovarian(40;423 959 14296 36701 49589)								0.463542	246.043246	246.266174	89	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31850676	31850676	18211	10	G	A	A	38	38	ZEB1	A	1	1
KIF5B	3799	broad.mit.edu	36	10	32346137	32346137	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:32346137G>A	uc001iwe.2	-	c.2701C>T	c.(2701-2703)CGC>TGC	p.R901C		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	901					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)												0.207904	250.628096	296.655215	121	461	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32346137	32346137	8617	10	G	A	A	37	37	KIF5B	A	1	1
C10orf68	79741	broad.mit.edu	36	10	33014948	33014948	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:33014948G>T	uc001iwm.1	+	c.130G>T	c.(130-132)GAA>TAA	p.E44*	C10orf68_uc001iwl.1_Nonsense_Mutation_p.E38*|C10orf68_uc001iwn.2_Nonsense_Mutation_p.E30*	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	30										ovary(1)	1														0.151515	36.661448	55.862719	25	140	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	33014948	33014948	1650	10	G	T	T	33	33	C10orf68	T	5	3
ITGB1	3688	broad.mit.edu	36	10	33254835	33254835	+	Silent	SNP	G	A	A	rs12261912	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:33254835G>A	uc001iwq.2	-	c.756C>T	c.(754-756)TTC>TTT	p.F252F	ITGB1_uc001iwp.2_Silent_p.F252F|ITGB1_uc001iwr.2_Silent_p.F252F|ITGB1_uc001iws.2_Silent_p.F252F|ITGB1_uc001iwt.2_Silent_p.F252F|ITGB1_uc001iwu.1_Silent_p.F252F	NM_033667	NP_391987	P05556	ITB1_HUMAN	integrin beta 1 isoform 1C-1 precursor	252	Extracellular (Potential).|VWFA.				axon guidance|B cell differentiation|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			ovary(1)	1		Ovarian(717;1.34e-05)|Breast(68;0.0634)							p.F252L(CAPAN2-Tumor)|p.F252L(OE33-Tumor)	377				0.191111	83.396026	103.460072	43	182	GG		KEEP	---	---	---	---	capture			Silent	SNP	33254835	33254835	8194	10	G	A	A	37	37	ITGB1	A	1	1
NRP1	8829	broad.mit.edu	36	10	33511668	33511668	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:33511668C>T	uc001iwx.2	-	c.2446G>A	c.(2446-2448)GAT>AAT	p.D816N	NRP1_uc001iww.2_Missense_Mutation_p.D628N|NRP1_uc001iwv.2_Intron|NRP1_uc009xlz.1_Missense_Mutation_p.D810N|NRP1_uc001iwy.2_Missense_Mutation_p.D809N	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	816	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)	3					Palifermin(DB00039)|Pegaptanib(DB04895)	Melanoma(104;886 1489 44640 45944 51153)								0.147287	28.832048	44.256912	19	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33511668	33511668	11065	10	C	T	T	30	30	NRP1	T	2	2
NRP1	8829	broad.mit.edu	36	10	33515167	33515167	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:33515167G>T	uc001iwx.2	-	c.2318C>A	c.(2317-2319)TCT>TAT	p.S773Y	NRP1_uc001iww.2_Missense_Mutation_p.S585Y|NRP1_uc001iwv.2_Missense_Mutation_p.S773Y|NRP1_uc009xlz.1_Missense_Mutation_p.S767Y|NRP1_uc001iwy.2_Missense_Mutation_p.S766Y	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	773	Extracellular (Potential).|MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)	3					Palifermin(DB00039)|Pegaptanib(DB04895)	Melanoma(104;886 1489 44640 45944 51153)								0.406897	152.379978	153.482418	59	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33515167	33515167	11065	10	G	T	T	33	33	NRP1	T	3	3
NRP1	8829	broad.mit.edu	36	10	33555125	33555125	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:33555125G>A	uc001iwx.2	-	c.1080C>T	c.(1078-1080)ATC>ATT	p.I360I	NRP1_uc001iww.2_Silent_p.I179I|NRP1_uc001iwv.2_Silent_p.I360I|NRP1_uc009xlz.1_Silent_p.I360I|NRP1_uc001iwy.2_Silent_p.I360I|NRP1_uc001iwz.2_Silent_p.I360I|NRP1_uc001ixa.2_Silent_p.I360I|NRP1_uc001ixb.1_Silent_p.I360I|NRP1_uc001ixc.1_Silent_p.I360I	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	360	F5/8 type C 1.|Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)	3					Palifermin(DB00039)|Pegaptanib(DB04895)	Melanoma(104;886 1489 44640 45944 51153)								0.205128	99.169722	118.045511	48	186	GG		KEEP	---	---	---	---	capture			Silent	SNP	33555125	33555125	11065	10	G	A	A	37	37	NRP1	A	1	1
NRP1	8829	broad.mit.edu	36	10	33592686	33592686	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:33592686C>A	uc001iwx.2	-	c.552G>T	c.(550-552)GAG>GAT	p.E184D	NRP1_uc001iww.2_Missense_Mutation_p.E3D|NRP1_uc001iwv.2_Missense_Mutation_p.E184D|NRP1_uc009xlz.1_Missense_Mutation_p.E184D|NRP1_uc001iwy.2_Missense_Mutation_p.E184D|NRP1_uc001iwz.2_Missense_Mutation_p.E184D|NRP1_uc001ixa.2_Missense_Mutation_p.E184D|NRP1_uc001ixb.1_Missense_Mutation_p.E184D|NRP1_uc001ixc.1_Missense_Mutation_p.E184D	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	184	Extracellular (Potential).|CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)	3					Palifermin(DB00039)|Pegaptanib(DB04895)	Melanoma(104;886 1489 44640 45944 51153)								0.481343	346.315717	346.398537	129	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33592686	33592686	11065	10	C	A	A	32	32	NRP1	A	3	3
PARD3	56288	broad.mit.edu	36	10	34460429	34460429	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:34460429G>A	uc001ixg.1	-	c.3517C>T	c.(3517-3519)CGT>TGT	p.R1173C	PARD3_uc001ixh.1_Missense_Mutation_p.R1170C|PARD3_uc001ixi.1_Missense_Mutation_p.R1136C|PARD3_uc001ixj.1_Missense_Mutation_p.R1157C|PARD3_uc001ixk.1_Missense_Mutation_p.R1127C|PARD3_uc001ixl.1_Missense_Mutation_p.R1090C|PARD3_uc001ixm.1_Missense_Mutation_p.R1083C|PARD3_uc001ixn.1_Missense_Mutation_p.R1061C	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1173	Potential.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)												0.215569	73.640075	86.090067	36	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34460429	34460429	11860	10	G	A	A	37	37	PARD3	A	1	1
PARD3	56288	broad.mit.edu	36	10	35143920	35143920	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:35143920T>G	uc001ixg.1	-	c.10A>C	c.(10-12)ACC>CCC	p.T4P	PARD3_uc001ixh.1_Missense_Mutation_p.T4P|PARD3_uc001ixi.1_Missense_Mutation_p.T4P|PARD3_uc001ixj.1_Missense_Mutation_p.T4P|PARD3_uc001ixk.1_Missense_Mutation_p.T4P|PARD3_uc001ixl.1_Missense_Mutation_p.T4P|PARD3_uc001ixm.1_Missense_Mutation_p.T4P|PARD3_uc001ixn.1_Missense_Mutation_p.T4P|PARD3_uc001ixq.1_Missense_Mutation_p.T4P|PARD3_uc001ixr.1_Missense_Mutation_p.T4P|PARD3_uc001ixu.1_Missense_Mutation_p.T4P	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	4					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)												0.5	17.945106	17.945106	6	6	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35143920	35143920	11860	10	T	G	G	58	58	PARD3	G	4	4
CUL2	8453	broad.mit.edu	36	10	35345274	35345274	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:35345274T>C	uc001ixv.1	-	c.1739A>G	c.(1738-1740)TAC>TGC	p.Y580C	CUL2_uc009xma.1_Missense_Mutation_p.Y449C|CUL2_uc001ixw.1_Missense_Mutation_p.Y580C	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	580					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3														0.454545	129.887282	130.045517	40	48	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35345274	35345274	4215	10	T	C	C	57	57	CUL2	C	4	4
CCNY	219771	broad.mit.edu	36	10	35858914	35858914	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:35858914G>A	uc001iyw.2	+	c.409G>A	c.(409-411)GAT>AAT	p.D137N	CCNY_uc001iyu.2_Missense_Mutation_p.D83N|CCNY_uc001iyv.2_Missense_Mutation_p.D83N|CCNY_uc001iyx.2_Missense_Mutation_p.D83N|CCNY_uc009xmb.1_Missense_Mutation_p.D112N	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	137					cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein binding				0														0.454268	460.037025	460.634547	149	179	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35858914	35858914	3063	10	G	A	A	33	33	CCNY	A	2	2
CCNY	219771	broad.mit.edu	36	10	35859099	35859099	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:35859099G>A	uc001iyw.2	+	c.501G>A	c.(499-501)GAG>GAA	p.E167E	CCNY_uc001iyu.2_Silent_p.E113E|CCNY_uc001iyv.2_Silent_p.E113E|CCNY_uc001iyx.2_Silent_p.E113E|CCNY_uc009xmb.1_Silent_p.E142E	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	167	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein binding				0														0.191083	57.051865	71.062936	30	127	GG		KEEP	---	---	---	---	capture			Silent	SNP	35859099	35859099	3063	10	G	A	A	34	34	CCNY	A	2	2
ANKRD30A	91074	broad.mit.edu	36	10	37461211	37461211	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:37461211G>T	uc001iza.1	+	c.380G>T	c.(379-381)AGA>ATA	p.R127I		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	183	ANK 4.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.206522	68.426608	83.143149	38	146	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37461211	37461211	663	10	G	T	T	33	33	ANKRD30A	T	3	3
ANKRD30A	91074	broad.mit.edu	36	10	37548336	37548336	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:37548336T>C	uc001iza.1	+	c.3522T>C	c.(3520-3522)TGT>TGC	p.C1174C		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1230					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.137931	31.937156	46.62825	16	100	TT		KEEP	---	---	---	---	capture			Silent	SNP	37548336	37548336	663	10	T	C	C	60	60	ANKRD30A	C	4	4
ZNF248	57209	broad.mit.edu	36	10	38160802	38160802	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:38160802T>G	uc001izd.1	-	c.1487A>C	c.(1486-1488)GAA>GCA	p.E496A	ZNF248_uc009xmc.1_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	496	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.458781	438.877248	439.288767	128	151	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38160802	38160802	18384	10	T	G	G	62	62	ZNF248	G	4	4
ZNF248	57209	broad.mit.edu	36	10	38160992	38160992	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:38160992C>A	uc001izd.1	-	c.1297G>T	c.(1297-1299)GAA>TAA	p.E433*	ZNF248_uc009xmc.1_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.126289	47.976911	100.910321	49	339	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	38160992	38160992	18384	10	C	A	A	32	32	ZNF248	A	5	3
ZNF248	57209	broad.mit.edu	36	10	38161432	38161432	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:38161432C>T	uc001izd.1	-	c.857G>A	c.(856-858)GGA>GAA	p.G286E	ZNF248_uc009xmc.1_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.185053	102.232649	128.372056	52	229	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38161432	38161432	18384	10	C	T	T	30	30	ZNF248	T	2	2
ZNF33A	7581	broad.mit.edu	36	10	38385325	38385325	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:38385325A>T	uc001izg.1	+	c.2267A>T	c.(2266-2268)AAA>ATA	p.K756I	ZNF33A_uc001izh.1_Missense_Mutation_p.K755I|ZNF33A_uc001izi.1_Intron	NM_006954	NP_008885	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform a	755	C2H2-type 16.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3														0.415385	215.024482	216.246526	81	114	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38385325	38385325	18446	10	A	T	T	1	1	ZNF33A	T	4	4
ZNF37A	7587	broad.mit.edu	36	10	38446637	38446637	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:38446637T>A	uc001izk.1	+	c.552T>A	c.(550-552)GAT>GAA	p.D184E	ZNF37A_uc001izl.1_Missense_Mutation_p.D184E|ZNF37A_uc001izm.1_Missense_Mutation_p.D184E	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	zinc finger protein 37a	184					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1														0.426966	223.979968	224.805549	76	102	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38446637	38446637	18464	10	T	A	A	49	49	ZNF37A	A	4	4
ZNF33B	7582	broad.mit.edu	36	10	42408098	42408098	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42408098C>A	uc001jaf.1	-	c.2306G>T	c.(2305-2307)AGA>ATA	p.R769I	ZNF33B_uc001jad.2_Intron|ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.R657I	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	769	C2H2-type 16.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						Melanoma(137;1247 1767 16772 25727 43810)								0.19802	110.818197	136.563017	60	243	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42408098	42408098	18447	10	C	A	A	32	32	ZNF33B	A	3	3
ZNF33B	7582	broad.mit.edu	36	10	42408403	42408403	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42408403A>G	uc001jaf.1	-	c.2001T>C	c.(1999-2001)TGT>TGC	p.C667C	ZNF33B_uc001jad.2_Intron|ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.C555C	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	667	C2H2-type 13.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						Melanoma(137;1247 1767 16772 25727 43810)								0.494709	653.313652	653.322631	187	191	AA		KEEP	---	---	---	---	capture			Silent	SNP	42408403	42408403	18447	10	A	G	G	14	14	ZNF33B	G	4	4
BMS1	9790	broad.mit.edu	36	10	42600982	42600982	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42600982C>T	uc001jaj.1	+	c.223C>T	c.(223-225)CGA>TGA	p.R75*		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	75					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)	2														0.489879	349.750902	349.77323	121	126	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	42600982	42600982	1497	10	C	T	T	31	31	BMS1	T	5	1
BMS1	9790	broad.mit.edu	36	10	42607199	42607199	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42607199C>A	uc001jaj.1	+	c.755C>A	c.(754-756)TCT>TAT	p.S252Y		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	252					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)	2														0.204276	164.276801	198.484466	86	335	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42607199	42607199	1497	10	C	A	A	32	32	BMS1	A	3	3
BMS1	9790	broad.mit.edu	36	10	42635750	42635750	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42635750C>T	uc001jaj.1	+	c.2641C>T	c.(2641-2643)CGA>TGA	p.R881*		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	881					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)	2														0.230088	113.890472	128.980881	52	174	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	42635750	42635750	1497	10	C	T	T	31	31	BMS1	T	5	1
BMS1	9790	broad.mit.edu	36	10	42636069	42636069	+	Silent	SNP	C	T	T	rs17841931	by-frequency	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42636069C>T	uc001jaj.1	+	c.2877C>T	c.(2875-2877)ATC>ATT	p.I959I		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	959					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)	2														0.196429	65.377506	79.807827	33	135	CC		KEEP	---	---	---	---	capture			Silent	SNP	42636069	42636069	1497	10	C	T	T	31	31	BMS1	T	1	1
BMS1	9790	broad.mit.edu	36	10	42639170	42639170	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42639170C>T	uc001jaj.1	+	c.3388C>T	c.(3388-3390)CGG>TGG	p.R1130W		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1130					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)	2														0.137931	35.463264	61.208493	28	175	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42639170	42639170	1497	10	C	T	T	27	27	BMS1	T	1	1
RET	5979	broad.mit.edu	36	10	42926723	42926723	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42926723G>A	uc001jal.1	+	c.1326G>A	c.(1324-1326)CTG>CTA	p.L442L	RET_uc001jak.1_Silent_p.L442L	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	442	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development|protein phosphorylation	integral to membrane	ATP binding|calcium ion binding|transcription activator activity|transmembrane receptor protein tyrosine kinase activity			thyroid(381)|adrenal_gland(20)|lung(6)|large_intestine(5)|ovary(4)|central_nervous_system(3)|urinary_tract(1)	420		Ovarian(717;0.0423)			Sunitinib(DB01268)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1		536				0.43299	333.475801	334.619614	126	165	GG		KEEP	---	---	---	---	capture			Silent	SNP	42926723	42926723	13705	10	G	A	A	46	46	RET	A	2	2
RET	5979	broad.mit.edu	36	10	42935606	42935606	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42935606C>T	uc001jal.1	+	c.2679C>T	c.(2677-2679)TTC>TTT	p.F893F	RET_uc001jak.1_Silent_p.F893F	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	893	Protein kinase.|Cytoplasmic (Potential).		F -> L (in HSCR1; sporadic form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development|protein phosphorylation	integral to membrane	ATP binding|calcium ion binding|transcription activator activity|transmembrane receptor protein tyrosine kinase activity			thyroid(381)|adrenal_gland(20)|lung(6)|large_intestine(5)|ovary(4)|central_nervous_system(3)|urinary_tract(1)	420		Ovarian(717;0.0423)			Sunitinib(DB01268)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1		536				0.137931	9.560012	16.918769	8	50	CC		KEEP	---	---	---	---	capture			Silent	SNP	42935606	42935606	13705	10	C	T	T	31	31	RET	T	1	1
RASGEF1A	221002	broad.mit.edu	36	10	43016301	43016301	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:43016301C>A	uc001jao.1	-	c.525G>T	c.(523-525)CAG>CAT	p.Q175H	RASGEF1A_uc001jap.1_Missense_Mutation_p.Q167H	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	167	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0														0.171296	59.231099	81.313278	37	179	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43016301	43016301	13530	10	C	A	A	32	32	RASGEF1A	A	3	3
C10orf10	11067	broad.mit.edu	36	10	44793439	44793439	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:44793439G>A	uc001jbr.2	-	c.46C>T	c.(46-48)CGG>TGG	p.R16W	RASSF4_uc001jbo.1_Intron|RASSF4_uc001jbp.1_Intron|RASSF4_uc009xmn.1_Intron|RASSF4_uc001jbq.1_Intron|C10orf10_uc009xmo.1_Missense_Mutation_p.R16W	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	16						mitochondrion					0														0.148515	42.396426	66.290538	30	172	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44793439	44793439	1614	10	G	A	A	37	37	C10orf10	A	1	1
DIP2C	22982	broad.mit.edu	36	10	449968	449968	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:449968C>T	uc001ifp.1	-	c.942G>A	c.(940-942)ACG>ACA	p.T314T	DIP2C_uc009xhj.1_Silent_p.T10T	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	314						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)								1018				0.484375	171.217223	171.245197	62	66	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	Silent	SNP	449968	449968	4708	10	C	T	T	31	31	DIP2C	T	1	1
OR13A1	79290	broad.mit.edu	36	10	45119021	45119021	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:45119021C>T	uc001jcc.1	-	c.856G>A	c.(856-858)GCA>ACA	p.A286T	OR13A1_uc001jcd.1_Missense_Mutation_p.A282T|OR13A1_uc009xms.1_Missense_Mutation_p.A286T	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	286	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.385185	138.462094	140.023778	52	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45119021	45119021	11339	10	C	T	T	27	27	OR13A1	T	1	1
OR13A1	79290	broad.mit.edu	36	10	45119736	45119736	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:45119736G>T	uc001jcc.1	-	c.141C>A	c.(139-141)AGC>AGA	p.S47R	OR13A1_uc001jcd.1_Missense_Mutation_p.S43R|OR13A1_uc009xms.1_Missense_Mutation_p.S47R	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.380165	122.810066	124.337973	46	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45119736	45119736	11339	10	G	T	T	34	34	OR13A1	T	3	3
ALOX5	240	broad.mit.edu	36	10	45239494	45239494	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:45239494G>T	uc001jce.1	+	c.555_splice	c.e5-1	p.A185_splice	ALOX5_uc009xmt.1_Splice_Site_SNP_p.A185_splice	NM_000698	NP_000689			arachidonate 5-lipoxygenase						hormone biosynthetic process|leukotriene biosynthetic process|oxidation-reduction process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)									0.433164	693.254204	695.564872	256	335	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	45239494	45239494	543	10	G	T	T	35	35	ALOX5	T	5	3
MARCH8	220972	broad.mit.edu	36	10	45273728	45273728	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:45273728G>A	uc001jch.2	-	c.1687C>T	c.(1687-1689)CCT>TCT	p.P563S	MARCH8_uc001jcj.1_Missense_Mutation_p.P281S|MARCH8_uc001jck.1_Missense_Mutation_p.P281S|MARCH8_uc001jcg.1_Missense_Mutation_p.P150S|MARCH8_uc001jci.1_Missense_Mutation_p.P281S	NM_001002266	NP_659458	Q5T0T0	MARH8_HUMAN	cellular modulator of immune recognition isoform	281						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding				0						NSCLC(102;658 1594 2173 16344 34808)								0.218978	66.293028	76.250457	30	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45273728	45273728	9690	10	G	A	A	42	42	MARCH8	A	2	2
ANUBL1	93550	broad.mit.edu	36	10	45441854	45441854	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:45441854G>T	uc001jcp.2	-	c.1423C>A	c.(1423-1425)CTT>ATT	p.L475I	ANUBL1_uc001jcm.2_Missense_Mutation_p.L475I|ANUBL1_uc009xmu.1_Missense_Mutation_p.L401I|ANUBL1_uc001jcn.2_Missense_Mutation_p.L401I|ANUBL1_uc001jco.2_Intron|ANUBL1_uc001jcl.2_5'UTR	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	475							zinc ion binding				0														0.2325	190.730393	216.979782	93	307	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45441854	45441854	721	10	G	T	T	33	33	ANUBL1	T	3	3
FAM21C	253725	broad.mit.edu	36	10	45570398	45570398	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:45570398G>A	uc001jcu.1	+	c.1249G>A	c.(1249-1251)GAT>AAT	p.D417N	FAM21C_uc001jcs.1_Missense_Mutation_p.D362N|FAM21C_uc001jct.1_Missense_Mutation_p.D417N	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	417										ovary(1)	1														0.24359	38.283203	42.964274	19	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45570398	45570398	5757	10	G	A	A	41	41	FAM21C	A	2	2
FAM21C	253725	broad.mit.edu	36	10	45574848	45574848	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:45574848A>G	uc001jcu.1	+	c.1628A>G	c.(1627-1629)GAC>GGC	p.D543G	FAM21C_uc001jcs.1_Missense_Mutation_p.D488G|FAM21C_uc001jct.1_Missense_Mutation_p.D543G	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	543										ovary(1)	1														0.192308	33.77112	40.685482	15	63	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45574848	45574848	5757	10	A	G	G	10	10	FAM21C	G	4	4
GPRIN2	9721	broad.mit.edu	36	10	46418960	46418960	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:46418960C>A	uc001jec.1	+	c.74C>A	c.(73-75)TCT>TAT	p.S25Y	GPRIN2_uc009xmz.1_Missense_Mutation_p.S25Y	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	25											0														0.10303	8.386408	60.317798	34	296	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46418960	46418960	7006	10	C	A	A	32	32	GPRIN2	A	3	3
PPYR1	5540	broad.mit.edu	36	10	46506853	46506853	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:46506853A>G	uc001jee.1	+	c.64A>G	c.(64-66)AAA>GAA	p.K22E	ANXA8_uc001jed.2_Intron|PPYR1_uc009xna.1_Missense_Mutation_p.K22E|PPYR1_uc009xnb.1_Missense_Mutation_p.K22E	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	22	Extracellular (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)	1														0.146006	97.469883	141.172988	53	310	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46506853	46506853	12852	10	A	G	G	5	5	PPYR1	G	4	4
RBP3	5949	broad.mit.edu	36	10	48009917	48009917	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:48009917G>A	uc001jez.1	-	c.967C>T	c.(967-969)CGC>TGC	p.R323C		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	323	4 X approximate tandem repeats.|2.				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)									0.230159	60.30368	68.72112	29	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48009917	48009917	13626	10	G	A	A	38	38	RBP3	A	1	1
RBP3	5949	broad.mit.edu	36	10	48010382	48010382	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:48010382C>T	uc001jez.1	-	c.502G>A	c.(502-504)GAT>AAT	p.D168N		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	168	4 X approximate tandem repeats.|1.				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)									0.247191	100.406662	110.767543	44	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48010382	48010382	13626	10	C	T	T	30	30	RBP3	T	2	2
FRMPD2	143162	broad.mit.edu	36	10	49065263	49065263	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:49065263T>C	uc001jgi.1	-	c.2244A>G	c.(2242-2244)CCA>CCG	p.P748P	FRMPD2_uc001jgj.1_Silent_p.P726P|FRMPD2_uc001jgh.1_Silent_p.P716P	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	748					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1														0.213333	38.666683	44.355332	16	59	TT		KEEP	---	---	---	---	capture		Kidney(211;0.201)	Silent	SNP	49065263	49065263	6308	10	T	C	C	59	59	FRMPD2	C	4	4
MAPK8	5599	broad.mit.edu	36	10	49287960	49287960	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:49287960G>A	uc009xnz.1	+	c.285G>A	c.(283-285)CAG>CAA	p.Q95Q	MAPK8_uc001jgl.1_Silent_p.Q95Q|MAPK8_uc001jgm.1_Silent_p.Q95Q|MAPK8_uc009xoa.1_Silent_p.Q95Q|MAPK8_uc001jgn.1_Silent_p.Q95Q|MAPK8_uc001jgo.1_Silent_p.Q95Q|MAPK8_uc001jgp.1_Silent_p.Q95Q|MAPK8_uc001jgq.1_Silent_p.Q95Q	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	95	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|JUN kinase activity|protein binding|protein binding			central_nervous_system(3)|ovary(1)|lung(1)|kidney(1)	6		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)								140				0.176923	49.14178	61.928557	23	107	GG		KEEP	---	---	---	---	capture		Epithelial(53;3.46e-65)|Lung(62;0.125)	Silent	SNP	49287960	49287960	9666	10	G	A	A	33	33	MAPK8	A	2	2
AKR1C1	1645	broad.mit.edu	36	10	4998218	4998218	+	Missense_Mutation	SNP	G	A	A	rs61730877	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:4998218G>A	uc001iho.1	+	c.197G>A	c.(196-198)CGA>CAA	p.R66Q	AKR1E2_uc001ihl.1_Intron|AKR1C3_uc001ihr.1_Missense_Mutation_p.R66Q|AKR1C1_uc009xhx.1_Missense_Mutation_p.R66Q|AKR1C1_uc001ihq.1_Missense_Mutation_p.R66Q	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	66					bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|oxidation-reduction process|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	Colon(130;2054 2316 13360 15380)								0.217172	91.514598	106.125668	43	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4998218	4998218	472	10	G	A	A	37	37	AKR1C1	A	1	1
C10orf72	196740	broad.mit.edu	36	10	49985925	49985925	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:49985925G>A	uc001jhf.2	-	c.177C>T	c.(175-177)GCC>GCT	p.A59A	C10orf72_uc001jhh.2_Silent_p.A59A	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	59	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|liver(1)	2														0.495238	161.299372	161.301295	52	53	GG		KEEP	---	---	---	---	capture			Silent	SNP	49985925	49985925	1652	10	G	A	A	39	39	C10orf72	A	1	1
C10orf128	170371	broad.mit.edu	36	10	50045005	50045005	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50045005G>A	uc001jhn.2	-	c.153C>T	c.(151-153)TTC>TTT	p.F51F	C10orf128_uc001jhl.2_Non-coding_Transcript|C10orf128_uc001jhm.2_Silent_p.F51F|C10orf128_uc009xoc.1_Silent_p.F51F|C10orf128_uc001jho.2_Silent_p.F51F	NM_001010863	NP_001010863	Q5T292	CJ128_HUMAN	hypothetical protein LOC170371	51	Helical; (Potential).					integral to membrane				lung(1)	1														0.172589	60.945797	80.885007	34	163	GG		KEEP	---	---	---	---	capture			Silent	SNP	50045005	50045005	1628	10	G	A	A	41	41	C10orf128	A	2	2
C10orf71	118461	broad.mit.edu	36	10	50201042	50201042	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50201042C>A	uc001jhp.1	+	c.446C>A	c.(445-447)TCT>TAT	p.S149Y		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	149											0														0.420561	116.641818	117.234054	45	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50201042	50201042	1651	10	C	A	A	32	32	C10orf71	A	3	3
C10orf71	118461	broad.mit.edu	36	10	50201278	50201278	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50201278G>A	uc001jhp.1	+	c.682G>A	c.(682-684)GCC>ACC	p.A228T		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	228											0														0.555556	101.329073	101.498934	35	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50201278	50201278	1651	10	G	A	A	42	42	C10orf71	A	2	2
C10orf71	118461	broad.mit.edu	36	10	50201707	50201707	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50201707G>A	uc001jhp.1	+	c.1111G>A	c.(1111-1113)GAT>AAT	p.D371N		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	371											0														0.198198	40.184919	49.602783	22	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50201707	50201707	1651	10	G	A	A	45	45	C10orf71	A	2	2
C10orf71	118461	broad.mit.edu	36	10	50202221	50202221	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50202221T>C	uc001jhp.1	+	c.1625T>C	c.(1624-1626)GTC>GCC	p.V542A		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	542											0														0.255814	59.191428	63.860663	22	64	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50202221	50202221	1651	10	T	C	C	58	58	C10orf71	C	4	4
OGDHL	55753	broad.mit.edu	36	10	50614507	50614507	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50614507G>A	uc009xog.1	-	c.2737C>T	c.(2737-2739)CGG>TGG	p.R913W	OGDHL_uc001jie.1_Missense_Mutation_p.R886W	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	886					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.252874	143.924771	158.406979	66	195	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50614507	50614507	11245	10	G	A	A	38	38	OGDHL	A	1	1
OGDHL	55753	broad.mit.edu	36	10	50620953	50620953	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50620953C>T	uc009xog.1	-	c.2020G>A	c.(2020-2022)GCC>ACC	p.A674T	OGDHL_uc001jie.1_Missense_Mutation_p.A647T|OGDHL_uc009xoh.1_Missense_Mutation_p.A438T	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	647					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.220779	31.757306	37.272182	17	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50620953	50620953	11245	10	C	T	T	26	26	OGDHL	T	2	2
SGMS1	259230	broad.mit.edu	36	10	51741154	51741154	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:51741154G>A	uc001jje.1	-	c.769C>T	c.(769-771)CGA>TGA	p.R257*	SGMS1_uc009xot.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	263					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			ovary(1)|kidney(1)	2														0.507246	99.739963	99.74363	35	34	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	51741154	51741154	14705	10	G	A	A	38	38	SGMS1	A	5	1
ASAH2B	653308	broad.mit.edu	36	10	52172704	52172704	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:52172704G>A	uc001jjg.1	+	c.14G>A	c.(13-15)CGA>CAA	p.R5Q		NM_001079516	NP_001072984	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal	Error:Variant_position_missing_in_Q9NR71_after_alignment					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity				0														0.185668	107.700301	136.133971	57	250	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52172704	52172704	1026	10	G	A	A	37	37	ASAH2B	A	1	1
A1CF	29974	broad.mit.edu	36	10	52236537	52236537	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:52236537A>C	uc001jjj.1	-	c.1743T>G	c.(1741-1743)ACT>ACG	p.T581T	A1CF_uc001jji.1_Silent_p.T573T|A1CF_uc001jjh.1_Silent_p.T581T|A1CF_uc009xov.1_Silent_p.T573T	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	581					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1														0.439791	257.169671	257.773463	84	107	AA		KEEP	---	---	---	---	capture			Silent	SNP	52236537	52236537	2	10	A	C	C	3	3	A1CF	C	4	4
AKR1C4	1109	broad.mit.edu	36	10	5244605	5244605	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5244605G>T	uc001ihw.1	+	c.597G>T	c.(595-597)CAG>CAT	p.Q199H		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	199					androgen metabolic process|bile acid biosynthetic process|oxidation-reduction process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)									0.393939	102.393113	103.37107	39	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5244605	5244605	475	10	G	T	T	33	33	AKR1C4	T	3	3
PRKG1	5592	broad.mit.edu	36	10	52583017	52583017	+	Silent	SNP	T	C	C	rs56398862	unknown	TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:52583017T>C	uc001jjo.2	+	c.399T>C	c.(397-399)TGT>TGC	p.C133C	PRKG1_uc001jjm.2_Silent_p.C118C|PRKG1_uc001jjn.2_Silent_p.C133C	NM_006258	NP_006249	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	118	cGMP 1.				actin cytoskeleton organization|platelet activation|protein phosphorylation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)								1247				0.209677	100.046972	114.536532	39	147	TT		KEEP	---	---	---	---	capture		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	Silent	SNP	52583017	52583017	12965	10	T	C	C	57	57	PRKG1	C	4	4
CSTF2T	23283	broad.mit.edu	36	10	53127472	53127472	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:53127472G>A	uc001jjp.1	-	c.1844C>T	c.(1843-1845)GCG>GTG	p.A615V	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	615					mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.417219	173.394325	174.298097	63	88	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	Missense_Mutation	SNP	53127472	53127472	4126	10	G	A	A	38	38	CSTF2T	A	1	1
CSTF2T	23283	broad.mit.edu	36	10	53128482	53128482	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:53128482A>C	uc001jjp.1	-	c.834T>G	c.(832-834)GGT>GGG	p.G278G	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	278	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.171429	69.156413	87.002816	30	145	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	Silent	SNP	53128482	53128482	4126	10	A	C	C	2	2	CSTF2T	C	4	4
DKK1	22943	broad.mit.edu	36	10	53746171	53746171	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:53746171A>G	uc001jjr.1	+	c.517A>G	c.(517-519)ACC>GCC	p.T173A		NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	173					negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3										158				0.198864	76.431003	91.288422	35	141	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53746171	53746171	4724	10	A	G	G	6	6	DKK1	G	4	4
ASB13	79754	broad.mit.edu	36	10	5722798	5722798	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5722798C>A	uc001iig.1	-	c.711G>T	c.(709-711)AAG>AAT	p.K237N	ASB13_uc001iif.1_5'Flank|ASB13_uc001iih.1_Non-coding_Transcript|ASB13_uc009xic.1_Missense_Mutation_p.K237N|ASB13_uc001iii.1_Non-coding_Transcript	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box-containing protein	237	SOCS box.				intracellular signal transduction		protein binding			ovary(1)	1														0.483254	272.706541	272.759688	101	108	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;9.59e-09)	Missense_Mutation	SNP	5722798	5722798	1035	10	C	A	A	32	32	ASB13	A	3	3
C10orf18	54906	broad.mit.edu	36	10	5829323	5829323	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5829323C>T	uc001iij.2	+	c.3933C>T	c.(3931-3933)TTC>TTT	p.F1311F	C10orf18_uc001iik.2_Silent_p.F155F	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1311										ovary(1)|central_nervous_system(1)	2														0.507599	511.511745	511.527966	167	162	CC		KEEP	---	---	---	---	capture			Silent	SNP	5829323	5829323	1633	10	C	T	T	32	32	C10orf18	T	2	2
C10orf18	54906	broad.mit.edu	36	10	5830838	5830838	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5830838C>T	uc001iij.2	+	c.5448C>T	c.(5446-5448)GTC>GTT	p.V1816V	C10orf18_uc001iik.2_Silent_p.V660V	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1816										ovary(1)|central_nervous_system(1)	2														0.390244	123.560352	124.860404	48	75	CC		KEEP	---	---	---	---	capture			Silent	SNP	5830838	5830838	1633	10	C	T	T	31	31	C10orf18	T	1	1
C10orf18	54906	broad.mit.edu	36	10	5831094	5831094	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5831094G>A	uc001iij.2	+	c.5704G>A	c.(5704-5706)GTA>ATA	p.V1902I	C10orf18_uc001iik.2_Missense_Mutation_p.V746I	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1902										ovary(1)|central_nervous_system(1)	2														0.483516	119.781325	119.803337	44	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5831094	5831094	1633	10	G	A	A	44	44	C10orf18	A	2	2
C10orf18	54906	broad.mit.edu	36	10	5839588	5839588	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5839588C>T	uc001iij.2	+	c.6832C>T	c.(6832-6834)CGT>TGT	p.R2278C	C10orf18_uc001iik.2_Missense_Mutation_p.R1122C	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2278										ovary(1)|central_nervous_system(1)	2														0.212371	216.052582	253.151143	103	382	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5839588	5839588	1633	10	C	T	T	31	31	C10orf18	T	1	1
C10orf18	54906	broad.mit.edu	36	10	5840928	5840928	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5840928A>G	uc001iij.2	+	c.6959A>G	c.(6958-6960)TAC>TGC	p.Y2320C	C10orf18_uc001iik.2_Missense_Mutation_p.Y1164C	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2320										ovary(1)|central_nervous_system(1)	2														0.491228	190.50848	190.515758	56	58	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5840928	5840928	1633	10	A	G	G	14	14	C10orf18	G	4	4
FBXO18	84893	broad.mit.edu	36	10	5977091	5977091	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5977091G>A	uc001iit.1	+	c.89G>A	c.(88-90)GGC>GAC	p.G30D	FBXO18_uc001iir.1_Intron|FBXO18_uc001iis.1_Intron|FBXO18_uc009xig.1_Intron	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 1	Error:Variant_position_missing_in_Q8NFZ0_after_alignment					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3														0.45122	206.163043	206.496437	74	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5977091	5977091	5968	10	G	A	A	42	42	FBXO18	A	2	2
TFAM	7019	broad.mit.edu	36	10	59818499	59818499	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:59818499G>T	uc001jkf.1	+	c.355G>T	c.(355-357)GAA>TAA	p.E119*	TFAM_uc001jkg.1_Non-coding_Transcript|TFAM_uc001jkh.1_Nonsense_Mutation_p.E119*	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	119					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0														0.462963	267.336684	267.598108	100	116	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	59818499	59818499	16314	10	G	T	T	33	33	TFAM	T	5	3
FBXO18	84893	broad.mit.edu	36	10	5985126	5985126	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5985126A>G	uc001iit.1	+	c.292A>G	c.(292-294)ACA>GCA	p.T98A	FBXO18_uc001iir.1_5'UTR|FBXO18_uc001iis.1_Missense_Mutation_p.T47A|FBXO18_uc009xig.1_5'UTR	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 1	47					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3														0.251613	110.46569	119.142129	39	116	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5985126	5985126	5968	10	A	G	G	2	2	FBXO18	G	4	4
FBXO18	84893	broad.mit.edu	36	10	5991168	5991168	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5991168G>A	uc001iit.1	+	c.1078G>A	c.(1078-1080)GAG>AAG	p.E360K	FBXO18_uc001iir.1_Missense_Mutation_p.E235K|FBXO18_uc001iis.1_Missense_Mutation_p.E309K|FBXO18_uc009xig.1_Missense_Mutation_p.E235K	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 1	309					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3														0.453416	204.351086	204.655592	73	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5991168	5991168	5968	10	G	A	A	37	37	FBXO18	A	1	1
FBXO18	84893	broad.mit.edu	36	10	6003233	6003233	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:6003233C>T	uc001iit.1	+	c.2260C>T	c.(2260-2262)CGG>TGG	p.R754W	FBXO18_uc001iir.1_Missense_Mutation_p.R629W|FBXO18_uc001iis.1_Missense_Mutation_p.R703W|FBXO18_uc009xig.1_Missense_Mutation_p.R629W	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 1	703					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3														0.432749	206.811578	207.487852	74	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6003233	6003233	5968	10	C	T	T	31	31	FBXO18	T	1	1
BICC1	80114	broad.mit.edu	36	10	60219161	60219161	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:60219161C>T	uc001jki.1	+	c.734C>T	c.(733-735)TCC>TTC	p.S245F		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	245					multicellular organismal development		RNA binding			ovary(2)|lung(1)	3														0.192547	126.199448	154.597414	62	260	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60219161	60219161	1452	10	C	T	T	30	30	BICC1	T	2	2
BICC1	80114	broad.mit.edu	36	10	60223256	60223256	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:60223256C>A	uc001jki.1	+	c.1054C>A	c.(1054-1056)CTT>ATT	p.L352I	BICC1_uc001jkj.1_5'UTR	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	352					multicellular organismal development		RNA binding			ovary(2)|lung(1)	3														0.455882	167.51734	167.749756	62	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60223256	60223256	1452	10	C	A	A	32	32	BICC1	A	3	3
BICC1	80114	broad.mit.edu	36	10	60258541	60258541	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:60258541C>T	uc001jki.1	+	c.2809C>T	c.(2809-2811)CGA>TGA	p.R937*		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	937					multicellular organismal development		RNA binding			ovary(2)|lung(1)	3														0.12605	18.069749	34.294053	15	104	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	60258541	60258541	1452	10	C	T	T	23	23	BICC1	T	5	1
PHYHIPL	84457	broad.mit.edu	36	10	60674992	60674992	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:60674992G>A	uc001jkk.2	+	c.766G>A	c.(766-768)GCA>ACA	p.A256T	PHYHIPL_uc001jkl.2_Missense_Mutation_p.A210T|PHYHIPL_uc001jkm.2_Missense_Mutation_p.A230T	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	256											0														0.245161	83.573376	92.744524	38	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60674992	60674992	12291	10	G	A	A	38	38	PHYHIPL	A	1	1
FAM13C	220965	broad.mit.edu	36	10	60692397	60692397	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:60692397G>A	uc001jkn.1	-	c.1039C>T	c.(1039-1041)CTG>TTG	p.L347L	FAM13C_uc001jko.1_Intron|FAM13C_uc001jkp.2_Silent_p.L264L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	347										ovary(1)	1														0.409639	189.579207	190.759515	68	98	GG		KEEP	---	---	---	---	capture			Silent	SNP	60692397	60692397	5651	10	G	A	A	34	34	FAM13C	A	2	2
IL2RA	3559	broad.mit.edu	36	10	6103572	6103572	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:6103572A>G	uc001iiz.1	-	c.458T>C	c.(457-459)GTC>GCC	p.V153A	IL2RA_uc009xih.1_Intron|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	153	Sushi 2.|Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)	1					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)					318				0.210692	167.183403	191.779374	67	251	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6103572	6103572	7987	10	A	G	G	10	10	IL2RA	G	4	4
CCDC6	8030	broad.mit.edu	36	10	61222715	61222715	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61222715G>A	uc001jks.2	-	c.1391C>T	c.(1390-1392)TCG>TTG	p.S464L		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	464						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)	3									p.S464L(ECC12-Tumor)|p.S464L(RL952-Tumor)	179				0.466667	256.989911	257.179725	91	104	GG		KEEP	---	---	---	---	capture		Kidney(211;0.0597)	Missense_Mutation	SNP	61222715	61222715	2953	10	G	A	A	37	37	CCDC6	A	1	1
CCDC6	8030	broad.mit.edu	36	10	61234213	61234213	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61234213G>A	uc001jks.2	-	c.1076C>T	c.(1075-1077)TCT>TTT	p.S359F		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	359						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)	3										179				0.154286	48.201725	68.203125	27	148	GG		KEEP	---	---	---	---	capture		Kidney(211;0.0597)	Missense_Mutation	SNP	61234213	61234213	2953	10	G	A	A	33	33	CCDC6	A	2	2
CCDC6	8030	broad.mit.edu	36	10	61242474	61242474	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61242474T>C	uc001jks.2	-	c.772A>G	c.(772-774)ATG>GTG	p.M258V		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	258	Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)	3										179				0.4	285.936165	287.807262	86	129	TT		KEEP	---	---	---	---	capture		Kidney(211;0.0597)	Missense_Mutation	SNP	61242474	61242474	2953	10	T	C	C	49	49	CCDC6	C	4	4
IL2RA	3559	broad.mit.edu	36	10	6144118	6144118	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:6144118C>T	uc001iiz.1	-	c.3G>A	c.(1-3)ATG>ATA	p.M1I	IL2RA_uc009xih.1_Missense_Mutation_p.M1I	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	1					cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)	1					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)					318				0.181287	51.414581	67.755208	31	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6144118	6144118	7987	10	C	T	T	21	21	IL2RA	T	2	2
ANK3	288	broad.mit.edu	36	10	61485700	61485700	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61485700T>C	uc001jky.1	-	c.12787A>G	c.(12787-12789)ACA>GCA	p.T4263A	ANK3_uc001jkz.2_Missense_Mutation_p.T1747A|ANK3_uc001jkv.1_Missense_Mutation_p.T286A|ANK3_uc001jkw.1_Missense_Mutation_p.T887A|ANK3_uc009xpa.1_Missense_Mutation_p.T887A|ANK3_uc001jkx.1_Missense_Mutation_p.T931A	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4263					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.441176	663.691616	665.019783	195	247	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61485700	61485700	625	10	T	C	C	58	58	ANK3	C	4	4
ANK3	288	broad.mit.edu	36	10	61498433	61498433	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61498433G>A	uc001jky.1	-	c.12212C>T	c.(12211-12213)GCC>GTC	p.A4071V	ANK3_uc001jkz.2_Intron|ANK3_uc001jkv.1_Intron|ANK3_uc001jkw.1_Intron|ANK3_uc009xpa.1_Intron|ANK3_uc001jkx.1_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4071					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.201102	146.090855	176.232988	73	290	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61498433	61498433	625	10	G	A	A	42	42	ANK3	A	2	2
ANK3	288	broad.mit.edu	36	10	61500409	61500409	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61500409G>A	uc001jky.1	-	c.10236C>T	c.(10234-10236)ATC>ATT	p.I3412I	ANK3_uc001jkz.2_Intron|ANK3_uc001jkv.1_Intron|ANK3_uc001jkw.1_Intron|ANK3_uc009xpa.1_Intron|ANK3_uc001jkx.1_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3412					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.233607	124.064246	139.90609	57	187	GG		KEEP	---	---	---	---	capture			Silent	SNP	61500409	61500409	625	10	G	A	A	37	37	ANK3	A	1	1
ANK3	288	broad.mit.edu	36	10	61502973	61502973	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61502973G>A	uc001jky.1	-	c.7672C>T	c.(7672-7674)CGC>TGC	p.R2558C	ANK3_uc001jkz.2_Intron|ANK3_uc001jkv.1_Intron|ANK3_uc001jkw.1_Intron|ANK3_uc009xpa.1_Intron|ANK3_uc001jkx.1_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2558					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.212885	153.498059	180.704134	76	281	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61502973	61502973	625	10	G	A	A	38	38	ANK3	A	1	1
ANK3	288	broad.mit.edu	36	10	61504524	61504524	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61504524T>A	uc001jky.1	-	c.6121A>T	c.(6121-6123)ATT>TTT	p.I2041F	ANK3_uc001jkz.2_Intron|ANK3_uc001jkv.1_Intron|ANK3_uc001jkw.1_Intron|ANK3_uc009xpa.1_Intron|ANK3_uc001jkx.1_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2041					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.454819	455.808355	456.394903	151	181	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61504524	61504524	625	10	T	A	A	49	49	ANK3	A	4	4
ANK3	288	broad.mit.edu	36	10	61515008	61515008	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61515008G>A	uc001jky.1	-	c.3758C>T	c.(3757-3759)TCG>TTG	p.S1253L	ANK3_uc001jkz.2_Missense_Mutation_p.S1247L|ANK3_uc001jlb.1_Missense_Mutation_p.S771L|ANK3_uc001jkv.1_5'Flank|ANK3_uc001jkw.1_Missense_Mutation_p.S387L|ANK3_uc009xpa.1_Missense_Mutation_p.S387L|ANK3_uc001jkx.1_Missense_Mutation_p.S431L|ANK3_uc001jla.1_Missense_Mutation_p.S319L	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1253					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.398551	149.826969	151.087977	55	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61515008	61515008	625	10	G	A	A	37	37	ANK3	A	1	1
ANK3	288	broad.mit.edu	36	10	61602887	61602887	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61602887G>T	uc001jky.1	-	c.2248C>A	c.(2248-2250)CTC>ATC	p.L750I	ANK3_uc001jkz.2_Missense_Mutation_p.L744I|ANK3_uc001jlb.1_Missense_Mutation_p.L279I|ANK3_uc001jkx.1_5'Flank|ANK3_uc001jlc.1_Missense_Mutation_p.L411I	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	750	ANK 21.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.14557	35.811413	54.908824	23	135	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61602887	61602887	625	10	G	T	T	34	34	ANK3	T	3	3
RBM17	84991	broad.mit.edu	36	10	6186920	6186920	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:6186920T>G	uc001ijb.1	+	c.261T>G	c.(259-261)TTT>TTG	p.F87L		NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	87					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0														0.217391	170.745955	192.738973	65	234	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6186920	6186920	13580	10	T	G	G	64	64	RBM17	G	4	4
RHOBTB1	9886	broad.mit.edu	36	10	62315909	62315909	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:62315909G>A	uc001jlh.1	-	c.1542C>T	c.(1540-1542)TTC>TTT	p.F514F	RHOBTB1_uc001jlj.1_Silent_p.F514F|RHOBTB1_uc001jlk.1_Silent_p.F514F|RHOBTB1_uc001jli.1_Silent_p.F514F|RHOBTB1_uc001jll.1_Silent_p.F264F|RHOBTB1_uc009xpe.1_Silent_p.F452F	NM_014836	NP_937868	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	514	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding				0	Prostate(12;0.0112)													0.274775	142.10007	152.23181	61	161	GG		KEEP	---	---	---	---	capture			Silent	SNP	62315909	62315909	13808	10	G	A	A	37	37	RHOBTB1	A	1	1
RHOBTB1	9886	broad.mit.edu	36	10	62318071	62318071	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:62318071T>C	uc001jlh.1	-	c.1361A>G	c.(1360-1362)AAC>AGC	p.N454S	RHOBTB1_uc001jlj.1_Missense_Mutation_p.N454S|RHOBTB1_uc001jlk.1_Missense_Mutation_p.N454S|RHOBTB1_uc001jli.1_Missense_Mutation_p.N454S|RHOBTB1_uc001jll.1_Missense_Mutation_p.N204S|RHOBTB1_uc009xpe.1_Missense_Mutation_p.N392S	NM_014836	NP_937868	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	454					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding				0	Prostate(12;0.0112)													0.1875	65.550226	78.708469	27	117	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62318071	62318071	13808	10	T	C	C	60	60	RHOBTB1	C	4	4
RHOBTB1	9886	broad.mit.edu	36	10	62318572	62318572	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:62318572G>A	uc001jlh.1	-	c.860C>T	c.(859-861)ACC>ATC	p.T287I	RHOBTB1_uc001jlj.1_Missense_Mutation_p.T287I|RHOBTB1_uc001jlk.1_Missense_Mutation_p.T287I|RHOBTB1_uc001jli.1_Missense_Mutation_p.T287I|RHOBTB1_uc001jll.1_Missense_Mutation_p.T37I|RHOBTB1_uc009xpe.1_Missense_Mutation_p.T225I	NM_014836	NP_937868	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	287	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding				0	Prostate(12;0.0112)													0.449761	264.507922	264.969444	94	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62318572	62318572	13808	10	G	A	A	44	44	RHOBTB1	A	2	2
RHOBTB1	9886	broad.mit.edu	36	10	62340745	62340745	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:62340745G>A	uc001jlh.1	-	c.202C>T	c.(202-204)CGT>TGT	p.R68C	RHOBTB1_uc001jlj.1_Missense_Mutation_p.R68C|RHOBTB1_uc001jlk.1_Missense_Mutation_p.R68C|RHOBTB1_uc001jlm.2_Missense_Mutation_p.R68C|RHOBTB1_uc001jli.1_Missense_Mutation_p.R68C|RHOBTB1_uc009xpe.1_Missense_Mutation_p.R68C	NM_014836	NP_937868	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	68	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding				0	Prostate(12;0.0112)													0.209091	41.953185	50.586326	23	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62340745	62340745	13808	10	G	A	A	38	38	RHOBTB1	A	1	1
RHOBTB1	9886	broad.mit.edu	36	10	62341250	62341250	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:62341250G>A	uc001jlh.1	-	c.57C>T	c.(55-57)GTC>GTT	p.V19V	RHOBTB1_uc001jlj.1_Silent_p.V19V|RHOBTB1_uc001jlk.1_Silent_p.V19V|RHOBTB1_uc001jlm.2_Silent_p.V19V|RHOBTB1_uc001jli.1_Silent_p.V19V|RHOBTB1_uc009xpe.1_Silent_p.V19V	NM_014836	NP_937868	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	19	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding				0	Prostate(12;0.0112)													0.218182	226.709782	262.898923	108	387	GG		KEEP	---	---	---	---	capture			Silent	SNP	62341250	62341250	13808	10	G	A	A	37	37	RHOBTB1	A	1	1
ARID5B	84159	broad.mit.edu	36	10	63370052	63370052	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:63370052A>G	uc001jlt.1	+	c.381A>G	c.(379-381)GGA>GGG	p.G127G		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	127					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			ovary(2)|kidney(1)	3	Prostate(12;0.016)|all_hematologic(501;0.215)													0.4	178.08738	179.363301	58	87	AA		KEEP	---	---	---	---	capture			Silent	SNP	63370052	63370052	937	10	A	G	G	10	10	ARID5B	G	4	4
ARID5B	84159	broad.mit.edu	36	10	63521834	63521834	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:63521834C>A	uc001jlt.1	+	c.2606C>A	c.(2605-2607)TCT>TAT	p.S869Y		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	869					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			ovary(2)|kidney(1)	3	Prostate(12;0.016)|all_hematologic(501;0.215)													0.247934	127.861605	141.869545	60	182	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63521834	63521834	937	10	C	A	A	32	32	ARID5B	A	3	3
RTKN2	219790	broad.mit.edu	36	10	63692550	63692550	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:63692550G>A	uc001jlw.1	-	c.97C>T	c.(97-99)CGA>TGA	p.R33*	ZNF365_uc001jly.2_Intron|RTKN2_uc001jlx.2_Nonsense_Mutation_p.R33*	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	33					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)													0.5	154.765956	154.765956	53	53	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	63692550	63692550	14203	10	G	A	A	37	37	RTKN2	A	5	1
EGR2	1959	broad.mit.edu	36	10	64244217	64244217	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:64244217C>T	uc001jmi.1	-	c.187G>A	c.(187-189)GAC>AAC	p.D63N	EGR2_uc001jmh.1_Missense_Mutation_p.D5N|EGR2_uc009xph.1_Missense_Mutation_p.D63N	NM_000399	NP_000390	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	63					fat cell differentiation|gene-specific transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)													0.459259	170.722676	170.919118	62	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64244217	64244217	5161	10	C	T	T	29	29	EGR2	T	2	2
NRBF2	29982	broad.mit.edu	36	10	64583627	64583627	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:64583627G>A	uc001jmj.2	+	c.507G>A	c.(505-507)GAG>GAA	p.E169E		NM_030759	NP_110386	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	169	Potential.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding				0	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.192308	22.820438	27.417319	10	42	GG		KEEP	---	---	---	---	capture			Silent	SNP	64583627	64583627	11046	10	G	A	A	35	35	NRBF2	A	2	2
JMJD1C	221037	broad.mit.edu	36	10	64613280	64613280	+	Silent	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:64613280A>T	uc001jmn.1	-	c.7017T>A	c.(7015-7017)GTT>GTA	p.V2339V	JMJD1C_uc001jml.1_Silent_p.V2102V|JMJD1C_uc001jmm.1_Silent_p.V2051V|JMJD1C_uc009xpi.1_Silent_p.V2157V|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc001jmo.1_Silent_p.V246V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2339	JmjC.				blood coagulation|oxidation-reduction process|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)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.173469	81.034832	110.654188	51	243	AA		KEEP	---	---	---	---	capture			Silent	SNP	64613280	64613280	8254	10	A	T	T	1	1	JMJD1C	T	4	4
JMJD1C	221037	broad.mit.edu	36	10	64614500	64614500	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:64614500C>T	uc001jmn.1	-	c.6835G>A	c.(6835-6837)GAA>AAA	p.E2279K	JMJD1C_uc001jml.1_Missense_Mutation_p.E2042K|JMJD1C_uc001jmm.1_Missense_Mutation_p.E1991K|JMJD1C_uc009xpi.1_Missense_Mutation_p.E2097K|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc001jmo.1_Missense_Mutation_p.E186K	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2279	JmjC.				blood coagulation|oxidation-reduction process|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)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.414966	169.347319	170.275242	61	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64614500	64614500	8254	10	C	T	T	31	31	JMJD1C	T	1	1
JMJD1C	221037	broad.mit.edu	36	10	64644142	64644142	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:64644142G>T	uc001jmn.1	-	c.1791C>A	c.(1789-1791)GTC>GTA	p.V597V	JMJD1C_uc001jml.1_Silent_p.V378V|JMJD1C_uc001jmm.1_Silent_p.V309V|JMJD1C_uc009xpi.1_Silent_p.V415V|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc001jmp.1_Silent_p.V309V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	597					blood coagulation|oxidation-reduction process|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)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.179487	59.992943	78.856021	35	160	GG		KEEP	---	---	---	---	capture			Silent	SNP	64644142	64644142	8254	10	G	T	T	33	33	JMJD1C	T	3	3
JMJD1C	221037	broad.mit.edu	36	10	64895369	64895369	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:64895369G>A	uc001jmn.1	-	c.60C>T	c.(58-60)GGC>GGT	p.G20G	JMJD1C_uc001jmr.1_Silent_p.G20G	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	20					blood coagulation|oxidation-reduction process|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)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.138462	9.646045	17.862474	9	56	GG		KEEP	---	---	---	---	capture			Silent	SNP	64895369	64895369	8254	10	G	A	A	38	38	JMJD1C	A	1	1
PRKCQ	5588	broad.mit.edu	36	10	6597110	6597110	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:6597110G>A	uc001iji.1	-	c.93C>T	c.(91-93)GGC>GGT	p.G31G	PRKCQ_uc009xim.1_5'UTR|PRKCQ_uc001ijj.1_5'UTR|PRKCQ_uc009xin.1_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	Error:Variant_position_missing_in_Q04759_after_alignment					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|protein phosphorylation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						Ovarian(50;572 1126 10530 25349 30594)				435				0.293333	100.739802	106.476935	44	106	GG		KEEP	---	---	---	---	capture			Silent	SNP	6597110	6597110	12958	10	G	A	A	38	38	PRKCQ	A	1	1
CTNNA3	29119	broad.mit.edu	36	10	67350160	67350160	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:67350160G>A	uc009xpn.1	-	c.2622C>T	c.(2620-2622)GGC>GGT	p.G874G	CTNNA3_uc001jmw.2_Silent_p.G874G	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	874					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	5														0.420896	393.608114	395.437593	141	194	GG		KEEP	---	---	---	---	capture			Silent	SNP	67350160	67350160	4173	10	G	A	A	34	34	CTNNA3	A	2	2
CTNNA3	29119	broad.mit.edu	36	10	67809037	67809037	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:67809037C>T	uc009xpn.1	-	c.1611G>A	c.(1609-1611)GCG>GCA	p.A537A	CTNNA3_uc001jmw.2_Silent_p.A537A	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	537					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	5														0.241525	131.257168	145.641794	57	179	CC		KEEP	---	---	---	---	capture			Silent	SNP	67809037	67809037	4173	10	C	T	T	23	23	CTNNA3	T	1	1
CTNNA3	29119	broad.mit.edu	36	10	68051508	68051508	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:68051508C>T	uc009xpn.1	-	c.1322G>A	c.(1321-1323)GGA>GAA	p.G441E	CTNNA3_uc001jmw.2_Missense_Mutation_p.G441E|CTNNA3_uc001jmx.2_Missense_Mutation_p.G441E	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	441					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	5														0.513043	176.424819	176.442142	59	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68051508	68051508	4173	10	C	T	T	30	30	CTNNA3	T	2	2
LRRTM3	347731	broad.mit.edu	36	10	68357120	68357120	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:68357120C>A	uc001jmz.1	+	c.440C>A	c.(439-441)TCT>TAT	p.S147Y	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.2_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.S147Y	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	147	Extracellular (Potential).|LRR 4.					integral to membrane				ovary(1)	1														0.224691	184.683369	212.922092	91	314	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68357120	68357120	9417	10	C	A	A	32	32	LRRTM3	A	3	3
CTNNA3	29119	broad.mit.edu	36	10	68649593	68649593	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:68649593G>T	uc009xpn.1	-	c.621C>A	c.(619-621)GCC>GCA	p.A207A	CTNNA3_uc001jmw.2_Silent_p.A207A|CTNNA3_uc001jmx.2_Silent_p.A207A|CTNNA3_uc009xpo.1_Silent_p.A67A|CTNNA3_uc001jna.2_Silent_p.A219A	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	207					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	5														0.406091	216.548653	218.070157	80	117	GG		KEEP	---	---	---	---	capture			Silent	SNP	68649593	68649593	4173	10	G	T	T	43	43	CTNNA3	T	3	3
MYPN	84665	broad.mit.edu	36	10	69578147	69578147	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:69578147C>T	uc001jnm.2	+	c.1162C>T	c.(1162-1164)CCC>TCC	p.P388S	MYPN_uc001jnn.2_Missense_Mutation_p.P113S|MYPN_uc001jno.2_Missense_Mutation_p.P388S|MYPN_uc009xpt.1_Missense_Mutation_p.P388S|MYPN_uc001jnl.1_Missense_Mutation_p.P388S|MYPN_uc001jnp.1_Missense_Mutation_p.P388S|MYPN_uc009xps.1_Missense_Mutation_p.P388S	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	388	Interaction with CARP.					nucleus|sarcomere	actin binding			ovary(3)	3														0.2	73.097551	88.167355	36	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69578147	69578147	10493	10	C	T	T	30	30	MYPN	T	2	2
MYPN	84665	broad.mit.edu	36	10	69605130	69605130	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:69605130C>A	uc001jnm.2	+	c.2609C>A	c.(2608-2610)CCA>CAA	p.P870Q	MYPN_uc001jnn.2_Missense_Mutation_p.P595Q|MYPN_uc001jno.2_Missense_Mutation_p.P870Q|MYPN_uc009xpt.1_Missense_Mutation_p.P870Q	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	870						nucleus|sarcomere	actin binding			ovary(3)	3														0.367647	134.706634	136.803881	50	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69605130	69605130	10493	10	C	A	A	21	21	MYPN	A	3	3
PBLD	64081	broad.mit.edu	36	10	69721947	69721947	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:69721947C>A	uc001jns.1	-	c.338G>T	c.(337-339)AGA>ATA	p.R113I	PBLD_uc001jnt.1_Missense_Mutation_p.R113I|PBLD_uc001jnu.1_Missense_Mutation_p.R113I|PBLD_uc001jnv.1_Missense_Mutation_p.R80I|PBLD_uc001jnr.1_Missense_Mutation_p.R80I	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	113					biosynthetic process		isomerase activity			ovary(1)	1														0.395062	84.57717	85.359327	32	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69721947	69721947	11909	10	C	A	A	32	32	PBLD	A	3	3
DNA2	1763	broad.mit.edu	36	10	69848825	69848825	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:69848825G>T	uc001jof.1	-	c.3197C>A	c.(3196-3198)TCT>TAT	p.S1066Y	DNA2_uc001jog.1_Missense_Mutation_p.S742Y|DNA2_uc001joh.1_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	980					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0														0.175824	53.182817	71.226847	32	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69848825	69848825	4778	10	G	T	T	33	33	DNA2	T	3	3
TET1	80312	broad.mit.edu	36	10	70074861	70074861	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70074861C>T	uc001jok.2	+	c.2369C>T	c.(2368-2370)TCT>TTT	p.S790F		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	790					DNA demethylation|inner cell mass cell differentiation|oxidation-reduction process|stem cell maintenance	nucleus	iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)	5										280				0.206667	65.845899	77.807194	31	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70074861	70074861	16296	10	C	T	T	32	32	TET1	T	2	2
STOX1	219736	broad.mit.edu	36	10	70315127	70315127	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70315127G>T	uc001joq.1	+	c.1569G>T	c.(1567-1569)CAG>CAT	p.Q523H	STOX1_uc001jor.1_Intron|STOX1_uc009xpy.1_Intron|STOX1_uc001jos.1_Missense_Mutation_p.Q523H	NM_152709	NP_689922	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	523						cytoplasm|nucleolus	DNA binding			kidney(1)	1														0.406897	153.677469	154.78073	59	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70315127	70315127	15839	10	G	T	T	33	33	STOX1	T	3	3
STOX1	219736	broad.mit.edu	36	10	70316136	70316136	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70316136G>A	uc001joq.1	+	c.2578G>A	c.(2578-2580)GCA>ACA	p.A860T	STOX1_uc001jor.1_Intron|STOX1_uc009xpy.1_Intron|STOX1_uc001jos.1_Missense_Mutation_p.A860T	NM_152709	NP_689922	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	860						cytoplasm|nucleolus	DNA binding			kidney(1)	1														0.232955	87.198455	98.683094	41	135	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70316136	70316136	15839	10	G	A	A	38	38	STOX1	A	1	1
STOX1	219736	broad.mit.edu	36	10	70322410	70322410	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70322410A>C	uc001joq.1	+	c.2882A>C	c.(2881-2883)AAT>ACT	p.N961T	STOX1_uc001jor.1_3'UTR|STOX1_uc009xpy.1_3'UTR|STOX1_uc001jos.1_Missense_Mutation_p.N961T	NM_152709	NP_689922	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	961						cytoplasm|nucleolus	DNA binding			kidney(1)	1														0.396552	225.253467	226.878153	69	105	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70322410	70322410	15839	10	A	C	C	4	4	STOX1	C	4	4
SRGN	5552	broad.mit.edu	36	10	70526938	70526938	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70526938G>A	uc001joz.1	+	c.172G>A	c.(172-174)GAA>AAA	p.E58K		NM_002727	NP_002718	P10124	SRGN_HUMAN	serglycin precursor	58					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen					0														0.192982	42.69456	52.720251	22	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70526938	70526938	15662	10	G	A	A	37	37	SRGN	A	1	1
SUPV3L1	6832	broad.mit.edu	36	10	70638403	70638403	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70638403G>A	uc001jpe.1	+	c.1967G>A	c.(1966-1968)CGA>CAA	p.R656Q		NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1	656	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2														0.214035	128.919993	150.453219	61	224	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70638403	70638403	15922	10	G	A	A	37	37	SUPV3L1	A	1	1
HKDC1	80201	broad.mit.edu	36	10	70670494	70670494	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70670494C>T	uc001jpf.2	+	c.672C>T	c.(670-672)TGC>TGT	p.C224C		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	224					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)	4														0.14876	26.47432	40.798026	18	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	70670494	70670494	7484	10	C	T	T	27	27	HKDC1	T	1	1
HKDC1	80201	broad.mit.edu	36	10	70680159	70680159	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70680159G>A	uc001jpf.2	+	c.1678G>A	c.(1678-1680)GCC>ACC	p.A560T		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	560					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)	4														0.469136	312.135626	312.335183	114	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70680159	70680159	7484	10	G	A	A	38	38	HKDC1	A	1	1
HKDC1	80201	broad.mit.edu	36	10	70688608	70688608	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70688608G>T	uc001jpf.2	+	c.2103G>T	c.(2101-2103)AAG>AAT	p.K701N	HKDC1_uc009xqb.1_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	701					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)	4														0.207547	62.271471	74.887899	33	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70688608	70688608	7484	10	G	T	T	33	33	HKDC1	T	3	3
HK1	3098	broad.mit.edu	36	10	70773711	70773711	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70773711G>A	uc001jpj.2	+	c.291G>A	c.(289-291)AAG>AAA	p.K97K	HK1_uc001jpg.2_Silent_p.K50K|HK1_uc001jph.2_Silent_p.K66K|HK1_uc001jpi.2_Silent_p.K66K|HK1_uc001jpk.2_Silent_p.K61K|HK1_uc009xqd.1_5'UTR|HK1_uc001jpl.2_Silent_p.K62K|HK1_uc009xqc.1_3'UTR	NM_033500	NP_277035	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI-td	62	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1														0.175258	63.720246	83.026247	34	160	GG		KEEP	---	---	---	---	capture			Silent	SNP	70773711	70773711	7481	10	G	A	A	33	33	HK1	A	2	2
COL13A1	1305	broad.mit.edu	36	10	71358711	71358711	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:71358711C>A	uc001jpr.1	+	c.1402C>A	c.(1402-1404)CTT>ATT	p.L468I	COL13A1_uc001jps.1_Missense_Mutation_p.L439I|COL13A1_uc001jpt.1_Missense_Mutation_p.L427I|COL13A1_uc001jpu.1_Missense_Mutation_p.L449I|COL13A1_uc001jpv.1_Missense_Mutation_p.L468I|COL13A1_uc001jpw.1_Missense_Mutation_p.L415I|COL13A1_uc001jpx.1_Missense_Mutation_p.L446I|COL13A1_uc001jpy.1_Missense_Mutation_p.L406I|COL13A1_uc001jpz.1_Missense_Mutation_p.L411I|COL13A1_uc001jqa.1_Missense_Mutation_p.L408I|COL13A1_uc001jqb.1_Missense_Mutation_p.L417I|COL13A1_uc001jqc.1_Missense_Mutation_p.L468I|COL13A1_uc001jqd.1_Missense_Mutation_p.L456I|COL13A1_uc001jqe.1_Missense_Mutation_p.L451I|COL13A1_uc001jqf.1_Missense_Mutation_p.L449I|COL13A1_uc001jqg.1_Missense_Mutation_p.L446I|COL13A1_uc001jqh.1_Missense_Mutation_p.L468I|COL13A1_uc001jqi.1_Missense_Mutation_p.L468I|COL13A1_uc001jqj.1_Missense_Mutation_p.L468I|COL13A1_uc001jqk.1_Missense_Mutation_p.L306I|COL13A1_uc001jql.1_Missense_Mutation_p.L328I	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	468	Extracellular (Potential).|Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)									0.206897	33.290487	40.231188	18	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71358711	71358711	3808	10	C	A	A	32	32	COL13A1	A	3	3
COL13A1	1305	broad.mit.edu	36	10	71359827	71359827	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:71359827C>A	uc001jpr.1	+	c.1475C>A	c.(1474-1476)CCT>CAT	p.P492H	COL13A1_uc001jps.1_Missense_Mutation_p.P463H|COL13A1_uc001jpt.1_Missense_Mutation_p.P451H|COL13A1_uc001jpu.1_Missense_Mutation_p.P473H|COL13A1_uc001jpv.1_Missense_Mutation_p.P492H|COL13A1_uc001jpw.1_Missense_Mutation_p.P439H|COL13A1_uc001jpx.1_Missense_Mutation_p.P470H|COL13A1_uc001jpy.1_Missense_Mutation_p.P430H|COL13A1_uc001jpz.1_Missense_Mutation_p.P435H|COL13A1_uc001jqa.1_Missense_Mutation_p.P432H|COL13A1_uc001jqb.1_Missense_Mutation_p.P441H|COL13A1_uc001jqc.1_Missense_Mutation_p.P492H|COL13A1_uc001jqd.1_Missense_Mutation_p.P480H|COL13A1_uc001jqe.1_Missense_Mutation_p.P475H|COL13A1_uc001jqf.1_Missense_Mutation_p.P473H|COL13A1_uc001jqg.1_Missense_Mutation_p.P470H|COL13A1_uc001jqh.1_Missense_Mutation_p.P492H|COL13A1_uc001jqi.1_Missense_Mutation_p.P492H|COL13A1_uc001jqj.1_Missense_Mutation_p.P492H|COL13A1_uc001jqk.1_Missense_Mutation_p.P330H|COL13A1_uc001jql.1_Missense_Mutation_p.P352H	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	492	Extracellular (Potential).|Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)									0.215909	38.473763	45.031464	19	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71359827	71359827	3808	10	C	A	A	24	24	COL13A1	A	3	3
PPA1	5464	broad.mit.edu	36	10	71639352	71639352	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:71639352C>T	uc001jqv.1	-	c.607G>A	c.(607-609)GAG>AAG	p.E203K		NM_021129	NP_066952	Q15181	IPYR_HUMAN	pyrophosphatase 1	203					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(1)	1														0.218254	113.571446	132.026116	55	197	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71639352	71639352	12716	10	C	T	T	29	29	PPA1	T	2	2
NPFFR1	64106	broad.mit.edu	36	10	71685431	71685431	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:71685431C>T	uc001jqw.1	-	c.575G>A	c.(574-576)CGC>CAC	p.R192H		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	194	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide receptor activity				0														0.333333	12.09023	12.449185	5	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71685431	71685431	10981	10	C	T	T	27	27	NPFFR1	T	1	1
NPFFR1	64106	broad.mit.edu	36	10	71690441	71690441	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:71690441G>A	uc001jqw.1	-	c.377C>T	c.(376-378)TCG>TTG	p.S126L		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	128	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	neuropeptide receptor activity				0														0.484848	42.385225	42.391718	16	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71690441	71690441	10981	10	G	A	A	37	37	NPFFR1	A	1	1
PRF1	5551	broad.mit.edu	36	10	72028757	72028757	+	Silent	SNP	G	A	A	rs35329429	by-frequency	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:72028757G>A	uc009xqg.1	-	c.726C>T	c.(724-726)TGC>TGT	p.C242C	PRF1_uc001jrf.2_Silent_p.C242C	NM_001083116	NP_005032	P14222	PERF_HUMAN	perforin 1 precursor	242	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.195122	42.719015	53.395925	24	99	GG		KEEP	---	---	---	---	capture			Silent	SNP	72028757	72028757	12921	10	G	A	A	38	38	PRF1	A	1	1
C10orf27	219793	broad.mit.edu	36	10	72204958	72204958	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:72204958C>T	uc001jrj.1	-	c.765G>A	c.(763-765)CCG>CCA	p.P255P	C10orf27_uc009xqh.1_Intron|C10orf27_uc001jrk.2_Non-coding_Transcript|C10orf27_uc009xqi.1_Non-coding_Transcript	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	stromal protein associated with thymii and lymph	255					cell differentiation|multicellular organismal development|spermatogenesis	cytosol					0														0.373832	96.177676	97.669889	40	67	CC		KEEP	---	---	---	---	capture			Silent	SNP	72204958	72204958	1637	10	C	T	T	27	27	C10orf27	T	1	1
SFMBT2	57713	broad.mit.edu	36	10	7254527	7254527	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7254527T>G	uc009xio.1	-	c.2087A>C	c.(2086-2088)AAA>ACA	p.K696T	SFMBT2_uc001ijn.1_Missense_Mutation_p.K696T	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	696						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6														0.207207	56.286376	65.089989	23	88	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7254527	7254527	14647	10	T	G	G	64	64	SFMBT2	G	4	4
UNC5B	219699	broad.mit.edu	36	10	72729025	72729025	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:72729025C>T	uc001jro.1	+	c.2823C>T	c.(2821-2823)ACC>ACT	p.T941T	UNC5B_uc001jrp.1_Silent_p.T930T|UNC5B_uc001jrq.1_5'Flank	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B	941	Cytoplasmic (Potential).|Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3														0.438596	334.115432	335.052242	125	160	CC		KEEP	---	---	---	---	capture			Silent	SNP	72729025	72729025	17550	10	C	T	T	23	23	UNC5B	T	1	1
SFMBT2	57713	broad.mit.edu	36	10	7284450	7284450	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7284450T>C	uc009xio.1	-	c.1485A>G	c.(1483-1485)AAA>AAG	p.K495K	SFMBT2_uc001ijn.1_Silent_p.K495K	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	495						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6														0.265823	127.087783	134.909692	42	116	TT		KEEP	---	---	---	---	capture			Silent	SNP	7284450	7284450	14647	10	T	C	C	60	60	SFMBT2	C	4	4
CDH23	64072	broad.mit.edu	36	10	72996627	72996627	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:72996627C>T	uc001jrx.2	+	c.552C>T	c.(550-552)CGC>CGT	p.R184R	CDH23_uc001jrv.2_Silent_p.R179R|CDH23_uc009xql.1_Silent_p.R229R|CDH23_uc001jrw.2_Silent_p.R184R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	184	Cadherin 2.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.171171	31.260996	42.609191	19	92	CC		KEEP	---	---	---	---	capture			Silent	SNP	72996627	72996627	3237	10	C	T	T	27	27	CDH23	T	1	1
CDH23	64072	broad.mit.edu	36	10	73142500	73142500	+	Missense_Mutation	SNP	A	G	G	rs41281310	unknown	TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73142500A>G	uc001jrx.2	+	c.3293A>G	c.(3292-3294)AAC>AGC	p.N1098S	CDH23_uc001jrz.2_Missense_Mutation_p.N714S|CDH23_uc001jsc.1_5'UTR	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1098	Cadherin 10.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.4375	88.694449	88.91157	28	36	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73142500	73142500	3237	10	A	G	G	2	2	CDH23	G	4	4
C10orf54	64115	broad.mit.edu	36	10	73181489	73181489	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73181489C>T	uc001jsd.1	-	c.840G>A	c.(838-840)TCG>TCA	p.S280S	CDH23_uc001jrx.2_Intron|C10orf54_uc001jse.1_Silent_p.S148S|C10orf54_uc009xqm.1_Silent_p.S118S	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24	280	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3														0.227273	43.88898	49.873565	20	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	73181489	73181489	1644	10	C	T	T	23	23	C10orf54	T	1	1
CDH23	64072	broad.mit.edu	36	10	73228995	73228995	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73228995C>T	uc001jrx.2	+	c.7176C>T	c.(7174-7176)ATC>ATT	p.I2392I	CDH23_uc001jsg.2_Silent_p.I152I|CDH23_uc001jsh.2_Silent_p.I152I|CDH23_uc001jsi.2_Silent_p.I152I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2392	Cadherin 22.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.430108	109.477762	109.875048	40	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	73228995	73228995	3237	10	C	T	T	31	31	CDH23	T	1	1
CDH23	64072	broad.mit.edu	36	10	73235739	73235739	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73235739C>T	uc001jrx.2	+	c.8043C>T	c.(8041-8043)CGC>CGT	p.R2681R	CDH23_uc001jsg.2_Silent_p.R441R|CDH23_uc001jsh.2_Silent_p.R441R|CDH23_uc001jsi.2_Silent_p.R441R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2681	Cadherin 25.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.2	13.710736	16.636929	7	28	CC		KEEP	---	---	---	---	capture			Silent	SNP	73235739	73235739	3237	10	C	T	T	27	27	CDH23	T	1	1
PSAP	5660	broad.mit.edu	36	10	73260940	73260940	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73260940C>A	uc001jsm.1	-	c.324G>T	c.(322-324)GAG>GAT	p.E108D		NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	108	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1														0.259434	120.306034	131.435898	55	157	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73260940	73260940	13096	10	C	A	A	32	32	PSAP	A	3	3
ASCC1	51008	broad.mit.edu	36	10	73626588	73626588	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73626588G>A	uc001jss.1	-	c.476C>T	c.(475-477)GCG>GTG	p.A159V	ASCC1_uc001jsr.1_Missense_Mutation_p.A74V|ASCC1_uc001jst.1_Missense_Mutation_p.A187V|ASCC1_uc001jsu.1_Missense_Mutation_p.A159V	NM_015947	NP_057031	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0														0.205128	32.657652	38.948922	16	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73626588	73626588	1049	10	G	A	A	38	38	ASCC1	A	1	1
DNAJB12	54788	broad.mit.edu	36	10	73773245	73773245	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73773245G>A	uc001jsz.1	-	c.342C>T	c.(340-342)ATC>ATT	p.I114I	DNAJB12_uc001jsy.1_Non-coding_Transcript|DNAJB12_uc001jta.1_Silent_p.I114I	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	114	J.				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0														0.276265	174.400357	185.99286	71	186	GG		KEEP	---	---	---	---	capture			Silent	SNP	73773245	73773245	4800	10	G	A	A	41	41	DNAJB12	A	2	2
CBARA1	10367	broad.mit.edu	36	10	73937987	73937987	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73937987A>C	uc001jtb.1	-	c.590T>G	c.(589-591)TTT>TGT	p.F197C	CBARA1_uc009xqo.1_Non-coding_Transcript	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	calcium binding atopy-related autoantigen 1	195					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1														0.307692	23.193817	24.048979	8	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73937987	73937987	2815	10	A	C	C	1	1	CBARA1	C	4	4
CCDC109A	90550	broad.mit.edu	36	10	74301145	74301145	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:74301145G>A	uc001jtc.1	+	c.662G>A	c.(661-663)CGA>CAA	p.R221Q	CCDC109A_uc009xqp.1_Non-coding_Transcript|CCDC109A_uc009xqq.1_Non-coding_Transcript|CCDC109A_uc009xqr.1_Missense_Mutation_p.R200Q|CCDC109A_uc001jtd.1_Missense_Mutation_p.R172Q	NM_138357	NP_612366	Q8NE86	C109A_HUMAN	coiled-coil domain containing 109A	221	Potential.					integral to membrane					0	Prostate(51;0.0198)													0.431111	544.374806	546.236443	194	256	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74301145	74301145	2864	10	G	A	A	37	37	CCDC109A	A	1	1
CCDC109A	90550	broad.mit.edu	36	10	74301313	74301313	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:74301313C>T	uc001jtc.1	+	c.830C>T	c.(829-831)GCA>GTA	p.A277V	CCDC109A_uc009xqp.1_Non-coding_Transcript|CCDC109A_uc009xqq.1_Non-coding_Transcript|CCDC109A_uc009xqr.1_Missense_Mutation_p.A256V|CCDC109A_uc001jtd.1_Missense_Mutation_p.A228V	NM_138357	NP_612366	Q8NE86	C109A_HUMAN	coiled-coil domain containing 109A	277	Helical; (Potential).					integral to membrane					0	Prostate(51;0.0198)													0.177419	52.835735	71.104277	33	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74301313	74301313	2864	10	C	T	T	25	25	CCDC109A	T	2	2
OIT3	170392	broad.mit.edu	36	10	74362235	74362235	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:74362235C>A	uc001jte.1	+	c.1585C>A	c.(1585-1587)CTA>ATA	p.L529I	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3	529						nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					Colon(7;19 345 13446 17537)								0.211679	53.188731	63.733351	29	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74362235	74362235	11254	10	C	A	A	32	32	OIT3	A	3	3
P4HA1	5033	broad.mit.edu	36	10	74476750	74476750	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:74476750C>T	uc009xqu.1	-	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H	P4HA1_uc009xqv.1_Missense_Mutation_p.R339H|P4HA1_uc001jtg.1_Missense_Mutation_p.R339H|P4HA1_uc001jth.1_Missense_Mutation_p.R339H|P4HA1_uc001jti.1_Non-coding_Transcript	NM_001017962	NP_001017962	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	339					oxidation-reduction process	endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	Colon(147;367 2405 2662 52127)								0.223108	118.064216	135.766661	56	195	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74476750	74476750	11769	10	C	T	T	27	27	P4HA1	T	1	1
SFMBT2	57713	broad.mit.edu	36	10	7452271	7452271	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7452271G>T	uc009xio.1	-	c.173C>A	c.(172-174)GCT>GAT	p.A58D	SFMBT2_uc001ijn.1_Missense_Mutation_p.A58D|SFMBT2_uc001ijo.1_Missense_Mutation_p.A58D	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	58	MBT 1.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6														0.224806	124.912118	142.8705	58	200	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7452271	7452271	14647	10	G	T	T	34	34	SFMBT2	T	3	3
ECD	11319	broad.mit.edu	36	10	74569182	74569182	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:74569182A>G	uc009xqx.1	-	c.1411T>C	c.(1411-1413)TCT>CCT	p.S471P	ECD_uc001jtn.1_Missense_Mutation_p.S438P|ECD_uc009xqy.1_Missense_Mutation_p.S395P|ECD_uc001jto.1_Missense_Mutation_p.S137P	NM_007265	NP_009196	O95905	SGT1_HUMAN	suppressor of S. cerevisiae gcr2 isoform 1	438					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			pancreas(1)	1	Prostate(51;0.0119)													0.397959	247.228524	249.006891	78	118	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74569182	74569182	5075	10	A	G	G	10	10	ECD	G	4	4
ZMYND17	118490	broad.mit.edu	36	10	74855943	74855943	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:74855943C>T	uc009xrh.1	-	c.770G>A	c.(769-771)CGG>CAG	p.R257Q	ZMYND17_uc001juc.2_Missense_Mutation_p.R234Q|ZMYND17_uc001jud.1_Missense_Mutation_p.R234Q|ZMYND17_uc009xrg.1_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	234							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)													0.233577	77.538139	86.433317	32	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74855943	74855943	18300	10	C	T	T	23	23	ZMYND17	T	1	1
USP54	159195	broad.mit.edu	36	10	74947135	74947135	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:74947135C>A	uc001juo.1	-	c.3055G>T	c.(3055-3057)GGC>TGC	p.G1019C	USP54_uc001jun.1_Non-coding_Transcript|USP54_uc001juk.1_Missense_Mutation_p.G107C|USP54_uc001jul.1_Missense_Mutation_p.G107C|USP54_uc001jum.1_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1019					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(1)|kidney(1)	2	Prostate(51;0.0112)					Colon(195;880 2046 8854 25025 38456)								0.430108	320.390358	321.590007	120	159	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74947135	74947135	17649	10	C	A	A	24	24	USP54	A	3	3
MYOZ1	58529	broad.mit.edu	36	10	75064277	75064277	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75064277C>T	uc001jur.1	-	c.473G>A	c.(472-474)GGC>GAC	p.G158D		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	158	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)													0.193103	52.009125	64.768038	28	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75064277	75064277	10490	10	C	T	T	26	26	MYOZ1	T	2	2
SYNPO2L	79933	broad.mit.edu	36	10	75076768	75076768	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75076768C>T	uc001jut.2	-	c.2648G>A	c.(2647-2649)CGA>CAA	p.R883Q	SYNPO2L_uc001jus.2_Missense_Mutation_p.R659Q	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	883	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)													0.248927	129.132947	142.497483	58	175	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75076768	75076768	15979	10	C	T	T	31	31	SYNPO2L	T	1	1
SEC24C	9632	broad.mit.edu	36	10	75193722	75193722	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75193722C>T	uc001juw.1	+	c.1202C>T	c.(1201-1203)CCG>CTG	p.P401L	SEC24C_uc009xrj.1_Missense_Mutation_p.P259L|SEC24C_uc001jux.1_Missense_Mutation_p.P401L	NM_004922	NP_940999	P53992	SC24C_HUMAN	SEC24-related protein C	401					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	protein binding|zinc ion binding			central_nervous_system(1)	1	Prostate(51;0.0112)													0.413043	52.015874	52.319635	19	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75193722	75193722	14482	10	C	T	T	23	23	SEC24C	T	1	1
SEC24C	9632	broad.mit.edu	36	10	75195892	75195892	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75195892G>T	uc001juw.1	+	c.1525G>T	c.(1525-1527)GAC>TAC	p.D509Y	SEC24C_uc009xrj.1_Missense_Mutation_p.D367Y|SEC24C_uc001jux.1_Missense_Mutation_p.D509Y	NM_004922	NP_940999	P53992	SC24C_HUMAN	SEC24-related protein C	509					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	protein binding|zinc ion binding			central_nervous_system(1)	1	Prostate(51;0.0112)													0.474684	417.094901	417.273105	150	166	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75195892	75195892	14482	10	G	T	T	45	45	SEC24C	T	3	3
NDST2	8509	broad.mit.edu	36	10	75235368	75235368	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75235368G>A	uc001jvk.1	-	c.1729C>T	c.(1729-1731)CGA>TGA	p.R577*	NDST2_uc009xro.1_Nonsense_Mutation_p.R203*	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	577	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)													0.491667	164.610766	164.618077	59	61	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	75235368	75235368	10655	10	G	A	A	38	38	NDST2	A	5	1
NDST2	8509	broad.mit.edu	36	10	75237794	75237794	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75237794C>T	uc001jvk.1	-	c.359G>A	c.(358-360)GGC>GAC	p.G120D	NDST2_uc009xro.1_5'Flank	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	120	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)													0.210937	57.06406	66.951048	27	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75237794	75237794	10655	10	C	T	T	26	26	NDST2	T	2	2
CAMK2G	818	broad.mit.edu	36	10	75272301	75272301	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75272301C>T	uc001jvv.1	-	c.800G>A	c.(799-801)CGA>CAA	p.R267Q	CAMK2G_uc001jvm.1_Missense_Mutation_p.R275Q|CAMK2G_uc001jvo.1_Missense_Mutation_p.R275Q|CAMK2G_uc001jvq.1_Missense_Mutation_p.R275Q|CAMK2G_uc001jvr.1_Missense_Mutation_p.R275Q|CAMK2G_uc001jvp.1_Missense_Mutation_p.R275Q|CAMK2G_uc001jvs.1_Missense_Mutation_p.R275Q|CAMK2G_uc001jvt.1_Non-coding_Transcript|CAMK2G_uc001jvu.1_Missense_Mutation_p.R253Q|CAMK2G_uc009xrp.1_5'Flank	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	275					insulin secretion|interferon-gamma-mediated signaling pathway|protein phosphorylation|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)	1	Prostate(51;0.0112)									423				0.325301	65.992205	68.242216	27	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75272301	75272301	2719	10	C	T	T	31	31	CAMK2G	T	1	1
PLAU	5328	broad.mit.edu	36	10	75343073	75343073	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75343073C>T	uc001jwa.1	+	c.388C>T	c.(388-390)CGA>TGA	p.R130*	C10orf55_uc001jvy.1_5'Flank|C10orf55_uc001jvz.1_Intron|PLAU_uc001jwb.1_Non-coding_Transcript|PLAU_uc001jwc.1_Nonsense_Mutation_p.R130*|PLAU_uc009xrq.1_Nonsense_Mutation_p.R94*	NM_002658	NP_002649	P00749	UROK_HUMAN	urokinase plasminogen activator isoform 1	130	Kringle.				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)									0.444954	256.916047	257.494897	97	121	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	75343073	75343073	12448	10	C	T	T	27	27	PLAU	T	5	1
VCL	7414	broad.mit.edu	36	10	75513212	75513212	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75513212G>A	uc001jwd.1	+	c.957G>A	c.(955-957)AGG>AGA	p.R319R	VCL_uc009xrr.1_Silent_p.R68R|VCL_uc001jwe.1_Silent_p.R319R	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	319	1.|N-terminal globular head.|3 X 112 AA tandem repeats.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)													0.251852	90.083849	97.63557	34	101	GG		KEEP	---	---	---	---	capture			Silent	SNP	75513212	75513212	17704	10	G	A	A	43	43	VCL	A	2	2
VCL	7414	broad.mit.edu	36	10	75537056	75537056	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75537056G>T	uc001jwd.1	+	c.2497G>T	c.(2497-2499)GAA>TAA	p.E833*	VCL_uc009xrr.1_Nonsense_Mutation_p.E582*|VCL_uc001jwe.1_Nonsense_Mutation_p.E833*	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	833	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)													0.17094	30.61706	42.61369	20	97	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	75537056	75537056	17704	10	G	T	T	33	33	VCL	T	5	3
AP3M1	26985	broad.mit.edu	36	10	75554240	75554240	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75554240G>T	uc001jwf.1	-	c.1060C>A	c.(1060-1062)CTT>ATT	p.L354I	AP3M1_uc001jwg.1_Missense_Mutation_p.L354I|AP3M1_uc001jwh.1_Missense_Mutation_p.L354I	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	354	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)													0.252809	98.080272	107.965826	45	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75554240	75554240	757	10	G	T	T	33	33	AP3M1	T	3	3
MYST4	23522	broad.mit.edu	36	10	76399495	76399495	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:76399495G>A	uc001jwn.1	+	c.802G>A	c.(802-804)GAA>AAA	p.E268K	MYST4_uc001jwm.1_Missense_Mutation_p.E268K|MYST4_uc001jwo.1_Missense_Mutation_p.E268K|MYST4_uc001jwp.1_Missense_Mutation_p.E268K	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	268	PHD-type 1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription activator activity|transcription factor binding|transcription repressor activity|zinc ion binding			central_nervous_system(5)|ovary(3)|breast(1)	9	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)									319				0.255814	77.711369	84.690409	33	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76399495	76399495	10500	10	G	A	A	37	37	MYST4	A	1	1
MYST4	23522	broad.mit.edu	36	10	76450889	76450889	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:76450889G>T	uc001jwn.1	+	c.2862_splice	c.e15-1	p.R954_splice	MYST4_uc001jwm.1_Splice_Site_SNP_p.R662_splice|MYST4_uc001jwo.1_Splice_Site_SNP_p.R662_splice|MYST4_uc001jwp.1_Splice_Site_SNP_p.R771_splice	NM_012330	NP_036462			MYST histone acetyltransferase (monocytic						histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription activator activity|transcription factor binding|transcription repressor activity|zinc ion binding			central_nervous_system(5)|ovary(3)|breast(1)	9	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)								(SNUC5-Tumor)	319				0.401015	206.958328	208.653428	79	118	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	76450889	76450889	10500	10	G	T	T	33	33	MYST4	T	5	3
ZNF503	84858	broad.mit.edu	36	10	76829537	76829537	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:76829537G>A	uc001jxg.1	-	c.917C>T	c.(916-918)GCT>GTT	p.A306V		NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	306	Gly-rich.				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)													0.2	6.787311	8.463828	4	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76829537	76829537	18545	10	G	A	A	34	34	ZNF503	A	2	2
ITIH5	80760	broad.mit.edu	36	10	7698064	7698064	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7698064G>T	uc001ijq.1	-	c.826C>A	c.(826-828)CTA>ATA	p.L276I	ITIH5_uc001ijr.1_Missense_Mutation_p.L276I|ITIH5_uc001ijp.1_Missense_Mutation_p.L62I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	276					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.378151	115.332609	116.887561	45	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7698064	7698064	8211	10	G	T	T	33	33	ITIH5	T	3	3
ITIH5	80760	broad.mit.edu	36	10	7722797	7722797	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7722797G>A	uc001ijq.1	-	c.327C>T	c.(325-327)GGC>GGT	p.G109G	ITIH5_uc001ijr.1_Silent_p.G109G	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	109	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.177285	108.661248	144.108208	64	297	GG		KEEP	---	---	---	---	capture			Silent	SNP	7722797	7722797	8211	10	G	A	A	38	38	ITIH5	A	1	1
ITIH5	80760	broad.mit.edu	36	10	7748831	7748831	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7748831G>A	uc001ijq.1	-	c.31C>T	c.(31-33)CTG>TTG	p.L11L	ITIH5_uc001ijr.1_Silent_p.L11L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	11					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.147541	11.377636	18.626061	9	52	GG		KEEP	---	---	---	---	capture			Silent	SNP	7748831	7748831	8211	10	G	A	A	34	34	ITIH5	A	2	2
ITIH2	3698	broad.mit.edu	36	10	7802929	7802929	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7802929G>A	uc001ijs.1	+	c.735G>A	c.(733-735)CAG>CAA	p.Q245Q		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	245					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.20122	67.972422	81.589988	33	131	GG		KEEP	---	---	---	---	capture			Silent	SNP	7802929	7802929	8208	10	G	A	A	33	33	ITIH2	A	2	2
ITIH2	3698	broad.mit.edu	36	10	7826814	7826814	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7826814G>A	uc001ijs.1	+	c.2463G>A	c.(2461-2463)GAG>GAA	p.E821E		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	821					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.415493	175.39027	176.277822	59	83	GG		KEEP	---	---	---	---	capture			Silent	SNP	7826814	7826814	8208	10	G	A	A	33	33	ITIH2	A	2	2
ATP5C1	509	broad.mit.edu	36	10	7884260	7884260	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7884260A>G	uc001iju.1	+	c.659A>G	c.(658-660)GAT>GGT	p.D220G	ATP5C1_uc009xiq.1_Missense_Mutation_p.D220G|ATP5C1_uc001ijv.1_Missense_Mutation_p.D220G	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	220					mitochondrial ATP synthesis coupled proton transport|oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						Melanoma(143;1012 1820 16249 30920 33158)								0.44186	189.158194	189.537758	57	72	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7884260	7884260	1168	10	A	G	G	12	12	ATP5C1	G	4	4
DLG5	9231	broad.mit.edu	36	10	79271676	79271676	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:79271676G>A	uc001jzk.1	-	c.1406C>T	c.(1405-1407)GCG>GTG	p.A469V	DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzj.1_Missense_Mutation_p.A224V|DLG5_uc001jzl.2_Missense_Mutation_p.A73V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	469					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)													0.208333	59.463414	70.818283	30	114	GG		KEEP	---	---	---	---	capture	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		Missense_Mutation	SNP	79271676	79271676	4738	10	G	A	A	38	38	DLG5	A	1	1
DLG5	9231	broad.mit.edu	36	10	79271925	79271925	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:79271925G>A	uc001jzk.1	-	c.1157C>T	c.(1156-1158)GCC>GTC	p.A386V	DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzj.1_Missense_Mutation_p.A141V|DLG5_uc001jzl.2_5'UTR	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	386					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)													0.454183	315.103784	315.563231	114	137	GG		KEEP	---	---	---	---	capture	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		Missense_Mutation	SNP	79271925	79271925	4738	10	G	A	A	42	42	DLG5	A	2	2
POLR3A	11128	broad.mit.edu	36	10	79451648	79451648	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:79451648C>T	uc001jzn.1	-	c.1024G>A	c.(1024-1026)GTC>ATC	p.V342I		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	342					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)													0.237288	60.441031	67.884466	28	90	CC		KEEP	---	---	---	---	capture	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		Missense_Mutation	SNP	79451648	79451648	12656	10	C	T	T	19	19	POLR3A	T	1	1
TAF3	83860	broad.mit.edu	36	10	8046542	8046542	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:8046542G>T	uc009xis.1	+	c.1063G>T	c.(1063-1065)GAG>TAG	p.E355*	TAF3_uc009xir.1_Nonsense_Mutation_p.E354*	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	355					maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1														0.202899	26.604992	32.26767	14	55	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	8046542	8046542	16046	10	G	T	T	33	33	TAF3	T	5	3
PPIF	10105	broad.mit.edu	36	10	80781255	80781255	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:80781255G>A	uc001kai.1	+	c.322G>A	c.(322-324)GAC>AAC	p.D108N	PPIF_uc001kaj.1_Missense_Mutation_p.D108N	NM_005729	NP_005720	P30405	PPIF_HUMAN	peptidylprolyl isomerase F precursor	108	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity				0	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)				Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)									0.482759	75.546958	75.55848	28	30	GG		KEEP	---	---	---	---	capture	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Missense_Mutation	SNP	80781255	80781255	12758	10	G	A	A	37	37	PPIF	A	1	1
GATA3	2625	broad.mit.edu	36	10	8145961	8145961	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:8145961G>A	uc001ijz.1	+	c.779_splice	c.e4-1	p.E260_splice	GATA3_uc001ika.1_Intron	NM_001002295	NP_001002295			GATA binding protein 3 isoform 1						blood coagulation|cell fate determination|defense response|mesonephros development|negative regulation of cell proliferation|nephric duct formation|norepinephrine biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of interleukin-4 production|regulation of cytokine biosynthetic process|response to estrogen stimulus|signal transduction|sympathetic nervous system development|transcription from RNA polymerase II promoter|ureteric bud formation	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(2)|central_nervous_system(2)	21														0.426136	227.090609	227.929551	75	101	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	8145961	8145961	6519	10	G	A	A	33	33	GATA3	A	5	2
SFTPD	6441	broad.mit.edu	36	10	81687692	81687692	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:81687692G>A	uc001kbh.1	-	c.1024C>T	c.(1024-1026)CCC>TCC	p.P342S	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	342	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding				0	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)													0.433538	595.733185	597.61214	212	277	GG		KEEP	---	---	---	---	capture	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		Missense_Mutation	SNP	81687692	81687692	14684	10	G	A	A	42	42	SFTPD	A	2	2
MAT1A	4143	broad.mit.edu	36	10	82026271	82026271	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:82026271G>A	uc001kbw.1	-	c.609C>T	c.(607-609)ATC>ATT	p.I203I		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	203					cellular amino acid metabolic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)									0.173494	125.739893	167.531739	72	343	GG		KEEP	---	---	---	---	capture	Colorectal(32;0.229)		Silent	SNP	82026271	82026271	9713	10	G	A	A	37	37	MAT1A	A	1	1
C10orf58	84293	broad.mit.edu	36	10	82170334	82170334	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:82170334C>T	uc001kcc.2	+	c.131C>T	c.(130-132)GCG>GTG	p.A44V	C10orf58_uc001kcd.2_Missense_Mutation_p.A33V|C10orf58_uc001kce.2_Missense_Mutation_p.A44V|C10orf58_uc001kcf.2_Missense_Mutation_p.A44V	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	hypothetical protein LOC84293	44						extracellular region					0														0.190217	63.018406	79.542303	35	149	CC		KEEP	---	---	---	---	capture	Colorectal(32;0.229)		Missense_Mutation	SNP	82170334	82170334	1647	10	C	T	T	27	27	C10orf58	T	1	1
C10orf58	84293	broad.mit.edu	36	10	82177093	82177093	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:82177093G>A	uc001kcc.2	+	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	C10orf58_uc001kcd.2_Missense_Mutation_p.R135Q|C10orf58_uc001kce.2_Missense_Mutation_p.R146Q|C10orf58_uc001kcf.2_Missense_Mutation_p.R146Q	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	hypothetical protein LOC84293	146						extracellular region					0														0.457265	322.789216	323.162215	107	127	GG		KEEP	---	---	---	---	capture	Colorectal(32;0.229)		Missense_Mutation	SNP	82177093	82177093	1647	10	G	A	A	39	39	C10orf58	A	1	1
TSPAN14	81619	broad.mit.edu	36	10	82259172	82259172	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:82259172G>A	uc001kcj.2	+	c.415G>A	c.(415-417)GAT>AAT	p.D139N	TSPAN14_uc009xss.1_Intron|TSPAN14_uc001kci.2_Missense_Mutation_p.D122N	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	tetraspanin 14 isoform 1	139						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.197802	35.396093	43.137501	18	73	GG		KEEP	---	---	---	---	capture	Colorectal(32;0.229)		Missense_Mutation	SNP	82259172	82259172	17189	10	G	A	A	37	37	TSPAN14	A	1	1
SH2D4B	387694	broad.mit.edu	36	10	82353508	82353508	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:82353508G>A	uc001kck.1	+	c.837G>A	c.(835-837)CCG>CCA	p.P279P	SH2D4B_uc001kcl.1_Silent_p.P230P|SH2D4B_uc001kcm.1_Silent_p.P25P	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	278											0														0.321429	22.485777	23.268097	9	19	GG		KEEP	---	---	---	---	capture	Colorectal(32;0.229)		Silent	SNP	82353508	82353508	14727	10	G	A	A	38	38	SH2D4B	A	1	1
TUBB8	347688	broad.mit.edu	36	10	84645	84645	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:84645C>T	uc001ifi.1	-	c.187G>A	c.(187-189)GCT>ACT	p.A63T	TUBB8_uc009xhe.1_Intron	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8	63					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)				Pancreas(192;2041 3010 9013 18103)								0.20354	44.515898	53.698829	23	90	CC		KEEP	---	---	---	---	capture		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	Missense_Mutation	SNP	84645	84645	17316	10	C	T	T	27	27	TUBB8	T	1	1
NRG3	10718	broad.mit.edu	36	10	84701269	84701269	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:84701269C>T	uc001kco.1	+	c.1119C>T	c.(1117-1119)ATC>ATT	p.I373I	NRG3_uc001kcp.1_Silent_p.I152I|NRG3_uc001kcq.1_Silent_p.I23I|NRG3_uc001kcr.1_Silent_p.I23I	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3	373	Helical; Note=Internal signal sequence; (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity				0														0.2	130.883772	158.098602	65	260	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	Silent	SNP	84701269	84701269	11054	10	C	T	T	31	31	NRG3	T	1	1
LARP4B	23185	broad.mit.edu	36	10	853788	853788	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:853788C>T	uc001ifs.1	-	c.1572G>A	c.(1570-1572)TCG>TCA	p.S524S		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 5	524							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3														0.39916	254.358131	256.478132	95	143	CC		KEEP	---	---	---	---	capture			Silent	SNP	853788	853788	8954	10	C	T	T	27	27	LARP4B	T	1	1
CDHR1	92211	broad.mit.edu	36	10	85945258	85945258	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:85945258C>T	uc001kcv.1	+	c.84C>T	c.(82-84)TTC>TTT	p.F28F	CDHR1_uc001kcw.2_Silent_p.F28F	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	28	Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1														0.178082	23.427636	30.554679	13	60	CC		KEEP	---	---	---	---	capture			Silent	SNP	85945258	85945258	3247	10	C	T	T	31	31	CDHR1	T	1	1
CDHR1	92211	broad.mit.edu	36	10	85961999	85961999	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:85961999C>T	uc001kcv.1	+	c.1638C>T	c.(1636-1638)TTC>TTT	p.F546F	CDHR1_uc001kcw.2_Silent_p.F546F|CDHR1_uc009xst.1_Silent_p.F250F|CDHR1_uc001kcx.1_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	546	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1														0.204301	123.308416	145.956367	57	222	CC		KEEP	---	---	---	---	capture			Silent	SNP	85961999	85961999	3247	10	C	T	T	32	32	CDHR1	T	2	2
LRIT1	26103	broad.mit.edu	36	10	85982249	85982249	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:85982249C>T	uc001kcz.1	-	c.1286G>A	c.(1285-1287)CGA>CAA	p.R429Q		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	429	Fibronectin type-III.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0														0.183333	80.149227	102.751182	44	196	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85982249	85982249	9320	10	C	T	T	31	31	LRIT1	T	1	1
LRIT1	26103	broad.mit.edu	36	10	85983852	85983852	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:85983852C>T	uc001kcz.1	-	c.852G>A	c.(850-852)GAG>GAA	p.E284E		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	284	Lumenal (Potential).|Ig-like C2-type.					integral to endoplasmic reticulum membrane					0														0.176471	49.021991	64.12653	27	126	CC		KEEP	---	---	---	---	capture			Silent	SNP	85983852	85983852	9320	10	C	T	T	32	32	LRIT1	T	2	2
FAM190B	54462	broad.mit.edu	36	10	86220144	86220144	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:86220144G>A	uc001kdh.1	+	c.2185G>A	c.(2185-2187)GAC>AAC	p.D729N	FAM190B_uc001kdi.1_Non-coding_Transcript	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	729	Potential.									ovary(3)	3														0.269231	17.710557	18.962333	7	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86220144	86220144	5733	10	G	A	A	33	33	FAM190B	A	2	2
GRID1	2894	broad.mit.edu	36	10	87396986	87396986	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:87396986C>T	uc001kdl.1	-	c.2146G>A	c.(2146-2148)GGA>AGA	p.G716R	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	716	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|large_intestine(2)	7					L-Glutamic Acid(DB00142)						Multiple Myeloma(13;0.14)			0.225806	364.81554	414.050442	161	552	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87396986	87396986	7049	10	C	T	T	23	23	GRID1	T	1	1
GRID1	2894	broad.mit.edu	36	10	87479347	87479347	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:87479347G>A	uc001kdl.1	-	c.1238C>T	c.(1237-1239)GCG>GTG	p.A413V	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	413	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|large_intestine(2)	7					L-Glutamic Acid(DB00142)						Multiple Myeloma(13;0.14)			0.258621	65.893333	72.020274	30	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87479347	87479347	7049	10	G	A	A	38	38	GRID1	A	1	1
WAPAL	23063	broad.mit.edu	36	10	88187695	88187695	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:88187695C>A	uc001kdn.1	-	c.3580G>T	c.(3580-3582)GAG>TAG	p.E1194*	WAPAL_uc009xsv.1_Nonsense_Mutation_p.E416*|WAPAL_uc001kdo.1_Nonsense_Mutation_p.E1157*|WAPAL_uc009xsw.1_Nonsense_Mutation_p.E1151*	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	1157	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1														0.188776	66.142223	83.926995	37	159	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	88187695	88187695	17820	10	C	A	A	32	32	WAPAL	A	5	3
LDB3	11155	broad.mit.edu	36	10	88459670	88459670	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:88459670G>A	uc001kdv.1	+	c.1114G>A	c.(1114-1116)GTG>ATG	p.V372M	LDB3_uc009xsz.1_Splice_Site_SNP_p.M1_splice|LDB3_uc001kdu.1_Missense_Mutation_p.V262M	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	372				V -> N (in Ref. 1; CAB46729).		cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1														0.166667	23.1647	32.660107	15	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88459670	88459670	9021	10	G	A	A	36	36	LDB3	A	2	2
LDB3	11155	broad.mit.edu	36	10	88475933	88475933	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:88475933G>A	uc001kdv.1	+	c.2038G>A	c.(2038-2040)GAC>AAC	p.D680N	LDB3_uc009xsz.1_Missense_Mutation_p.D309N|LDB3_uc001kdu.1_Missense_Mutation_p.D570N|LDB3_uc009xta.1_Missense_Mutation_p.D59N	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	680	LIM zinc-binding 3.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1														0.176	37.383723	49.751931	22	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88475933	88475933	9021	10	G	A	A	37	37	LDB3	A	1	1
BMPR1A	657	broad.mit.edu	36	10	88639799	88639799	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:88639799G>A	uc001kdy.1	+	c.68G>A	c.(67-69)GGA>GAA	p.G23E		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	23					BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			stomach(1)|large_intestine(1)|lung(1)|central_nervous_system(1)|kidney(1)	5						Ovarian(190;603 2086 22044 30335 47971)				207				0.39881	191.985182	193.49152	67	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88639799	88639799	1494	10	G	A	A	41	41	BMPR1A	A	2	2
BMPR1A	657	broad.mit.edu	36	10	88649782	88649782	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:88649782G>A	uc001kdy.1	+	c.449G>A	c.(448-450)AGC>AAC	p.S150N		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	150	Extracellular (Potential).				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			stomach(1)|large_intestine(1)|lung(1)|central_nervous_system(1)|kidney(1)	5						Ovarian(190;603 2086 22044 30335 47971)				207				0.195652	75.704293	91.587103	36	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88649782	88649782	1494	10	G	A	A	34	34	BMPR1A	A	2	2
AGAP11	119385	broad.mit.edu	36	10	88759088	88759088	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:88759088T>C	uc001kee.2	+	c.1099T>C	c.(1099-1101)TCA>CCA	p.S367P	AGAP11_uc001kef.1_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	367	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0														0.230663	456.295883	504.405614	167	557	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88759088	88759088	369	10	T	C	C	62	62	AGAP11	C	4	4
AGAP11	119385	broad.mit.edu	36	10	88759429	88759429	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:88759429C>T	uc001kee.2	+	c.1440C>T	c.(1438-1440)AAC>AAT	p.N480N	AGAP11_uc001kef.1_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	480					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0														0.422222	305.2787	306.706598	114	156	CC		KEEP	---	---	---	---	capture			Silent	SNP	88759429	88759429	369	10	C	T	T	19	19	AGAP11	T	1	1
FAM35A	54537	broad.mit.edu	36	10	88901557	88901557	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:88901557C>A	uc001kei.2	+	c.466C>A	c.(466-468)CCA>ACA	p.P156T		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	156										ovary(2)	2						Ovarian(175;703 2004 25460 32514 43441)								0.465909	239.902666	240.07192	82	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88901557	88901557	5773	10	C	A	A	26	26	FAM35A	A	3	3
FAM22D	728130	broad.mit.edu	36	10	89117099	89117099	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89117099A>G	uc009xte.1	+	c.1664A>G	c.(1663-1665)GAC>GGC	p.D555G		NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	hypothetical protein LOC728130	Error:Variant_position_missing_in_Q5VT03_after_alignment											0														0.130435	14.433782	23.594977	9	60	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89117099	89117099	5759	10	A	G	G	10	10	FAM22D	G	4	4
MINPP1	9562	broad.mit.edu	36	10	89258204	89258204	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89258204G>T	uc001keu.2	+	c.769G>T	c.(769-771)GAA>TAA	p.E257*	MINPP1_uc009xtf.1_Non-coding_Transcript|MINPP1_uc001kev.2_Nonsense_Mutation_p.E257*	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	257					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)												0.192771	57.494638	72.137651	32	134	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	Nonsense_Mutation	SNP	89258204	89258204	9978	10	G	T	T	33	33	MINPP1	T	5	3
PAPSS2	9060	broad.mit.edu	36	10	89462837	89462837	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89462837G>A	uc001kew.1	+	c.171G>A	c.(169-171)ACG>ACA	p.T57T	PAPSS2_uc001kex.1_Silent_p.T57T|PAPSS2_uc009xtg.1_Non-coding_Transcript	NM_001015880	NP_001015880	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	57	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)	1		Melanoma(5;0.019)|Colorectal(252;0.123)												0.183333	143.233759	182.766858	77	343	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	Silent	SNP	89462837	89462837	11852	10	G	A	A	37	37	PAPSS2	A	1	1
ATAD1	84896	broad.mit.edu	36	10	89504498	89504498	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89504498G>A	uc001key.1	-	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001kez.1_Missense_Mutation_p.R338W	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	338							ATP binding|nucleoside-triphosphatase activity			large_intestine(1)|ovary(1)	2		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)												0.452381	162.958375	163.207199	57	69	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)	Missense_Mutation	SNP	89504498	89504498	1089	10	G	A	A	37	37	ATAD1	A	1	1
LARP4B	23185	broad.mit.edu	36	10	899749	899749	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:899749C>T	uc001ifs.1	-	c.364G>A	c.(364-366)GCA>ACA	p.A122T		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 5	122							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3														0.247423	112.535505	123.779702	48	146	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	899749	899749	8954	10	C	T	T	28	28	LARP4B	T	2	2
LARP4B	23185	broad.mit.edu	36	10	899820	899820	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:899820G>A	uc001ifs.1	-	c.293C>T	c.(292-294)TCG>TTG	p.S98L		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 5	98							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3														0.414634	188.160107	189.205892	68	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	899820	899820	8954	10	G	A	A	37	37	LARP4B	A	1	1
LIPK	643414	broad.mit.edu	36	10	90489736	90489736	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:90489736C>T	uc001kfi.1	+	c.820C>T	c.(820-822)CGC>TGC	p.R274C		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	lipase, family member K	274					lipid catabolic process	extracellular region	hydrolase activity			ovary(2)	2		Colorectal(252;0.0381)												0.409091	176.593505	177.705765	63	91	CC		KEEP	---	---	---	---	capture		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	Missense_Mutation	SNP	90489736	90489736	9154	10	C	T	T	31	31	LIPK	T	1	1
ACTA2	59	broad.mit.edu	36	10	90687828	90687828	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:90687828C>A	uc001kfp.1	-	c.960G>T	c.(958-960)ACG>ACT	p.T320T	ACTA2_uc001kfq.1_Silent_p.T320T	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	320					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)								5				0.196172	82.541119	100.539776	41	168	CC		KEEP	---	---	---	---	capture		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	Silent	SNP	90687828	90687828	193	10	C	A	A	23	23	ACTA2	A	3	3
ACTA2	59	broad.mit.edu	36	10	90691548	90691548	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:90691548G>A	uc001kfp.1	-	c.428C>T	c.(427-429)TCT>TTT	p.S143F	ACTA2_uc001kfq.1_Missense_Mutation_p.S143F	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	143					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)								5				0.136364	8.418585	14.054574	6	38	GG		KEEP	---	---	---	---	capture		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	Missense_Mutation	SNP	90691548	90691548	193	10	G	A	A	33	33	ACTA2	A	2	2
IFIT3	3437	broad.mit.edu	36	10	91088507	91088507	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91088507T>G	uc001kgf.1	+	c.115T>G	c.(115-117)TGT>GGT	p.C39G	LIPA_uc001kgb.2_Intron|LIPA_uc001kgc.2_Intron|IFIT3_uc001kgg.1_Missense_Mutation_p.C39G	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	39					type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1														0.398876	237.500253	239.116532	71	107	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91088507	91088507	7825	10	T	G	G	59	59	IFIT3	G	4	4
IFIT1B	439996	broad.mit.edu	36	10	91133673	91133673	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91133673G>A	uc001kgh.1	+	c.623G>A	c.(622-624)CGA>CAA	p.R208Q	LIPA_uc001kgb.2_Intron|LIPA_uc001kgc.2_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	208	TPR 4.						binding				0														0.205263	318.76887	380.023923	156	604	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91133673	91133673	7823	10	G	A	A	37	37	IFIT1B	A	1	1
IFIT5	24138	broad.mit.edu	36	10	91167018	91167018	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91167018G>T	uc001kgk.1	+	c.82G>T	c.(82-84)GAC>TAC	p.D28Y	LIPA_uc001kgb.2_5'Flank|LIPA_uc001kgc.2_5'Flank	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	28							binding				0														0.42	279.904163	281.306397	105	145	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91167018	91167018	7826	10	G	T	T	33	33	IFIT5	T	3	3
SLC16A12	387700	broad.mit.edu	36	10	91188344	91188344	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91188344C>A	uc001kgm.2	-	c.935G>T	c.(934-936)AGA>ATA	p.R312I	SLC16A12_uc001kgl.2_5'Flank	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	solute carrier family 16 (monocarboxylic acid	312	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity				0														0.360544	131.725807	134.245415	53	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91188344	91188344	14901	10	C	A	A	32	32	SLC16A12	A	3	3
KIF20B	9585	broad.mit.edu	36	10	91459768	91459768	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91459768G>A	uc001kgs.1	+	c.456G>A	c.(454-456)GGG>GGA	p.G152G	KIF20B_uc001kgr.1_Silent_p.G152G	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	152	Kinesin-motor.|ATP (Potential).				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.216312	130.671914	151.576734	61	221	GG		KEEP	---	---	---	---	capture			Silent	SNP	91459768	91459768	8598	10	G	A	A	42	42	KIF20B	A	2	2
KIF20B	9585	broad.mit.edu	36	10	91469202	91469202	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91469202G>T	uc001kgs.1	+	c.1481G>T	c.(1480-1482)GGA>GTA	p.G494V	KIF20B_uc001kgr.1_Missense_Mutation_p.G494V	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	494					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.403101	135.559131	136.622005	52	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91469202	91469202	8598	10	G	T	T	41	41	KIF20B	T	3	3
KIF20B	9585	broad.mit.edu	36	10	91474777	91474777	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91474777G>A	uc001kgs.1	+	c.1883G>A	c.(1882-1884)CGA>CAA	p.R628Q	KIF20B_uc001kgr.1_Missense_Mutation_p.R628Q|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	628					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.221675	96.864836	111.339045	45	158	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91474777	91474777	8598	10	G	A	A	37	37	KIF20B	A	1	1
KIF20B	9585	broad.mit.edu	36	10	91487438	91487438	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91487438A>C	uc001kgs.1	+	c.2860A>C	c.(2860-2862)AAT>CAT	p.N954H	KIF20B_uc001kgr.1_Missense_Mutation_p.N914H|KIF20B_uc001kgt.1_Missense_Mutation_p.N165H|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	954					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.430303	226.672653	227.375584	71	94	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91487438	91487438	8598	10	A	C	C	1	1	KIF20B	C	4	4
KIF20B	9585	broad.mit.edu	36	10	91487730	91487730	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91487730A>G	uc001kgs.1	+	c.3152A>G	c.(3151-3153)AAT>AGT	p.N1051S	KIF20B_uc001kgr.1_Missense_Mutation_p.N1011S|KIF20B_uc001kgt.1_Missense_Mutation_p.N262S|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1051					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.465116	546.299973	546.660997	160	184	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91487730	91487730	8598	10	A	G	G	4	4	KIF20B	G	4	4
RPP30	10556	broad.mit.edu	36	10	92625808	92625808	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:92625808C>A	uc001khd.2	+	c.243C>A	c.(241-243)GTC>GTA	p.V81V	RPP30_uc009xtx.1_Silent_p.V81V	NM_001104546	NP_001098016	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform a	81					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0														0.395349	131.66938	132.913567	51	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	92625808	92625808	14091	10	C	A	A	32	32	RPP30	A	3	3
PPP1R3C	5507	broad.mit.edu	36	10	93379776	93379776	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93379776G>T	uc001kho.1	-	c.842C>A	c.(841-843)TCT>TAT	p.S281Y		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	281							protein serine/threonine phosphatase activity				0		Colorectal(252;0.235)												0.451613	262.193478	262.639511	98	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93379776	93379776	12808	10	G	T	T	33	33	PPP1R3C	T	3	3
TNKS2	80351	broad.mit.edu	36	10	93566881	93566881	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93566881G>A	uc001khp.1	+	c.435G>A	c.(433-435)CAG>CAA	p.Q145Q		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	145	ANK 3.				positive regulation of telomere maintenance via telomerase|protein ADP-ribosylation|protein localization to chromosome, telomeric region	Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity			kidney(3)|skin(2)|ovary(1)|lung(1)	7		Colorectal(252;0.162)								718				0.41791	84.988904	85.382861	28	39	GG		KEEP	---	---	---	---	capture			Silent	SNP	93566881	93566881	16862	10	G	A	A	34	34	TNKS2	A	2	2
TNKS2	80351	broad.mit.edu	36	10	93604796	93604796	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93604796C>A	uc001khp.1	+	c.2846C>A	c.(2845-2847)TCT>TAT	p.S949Y		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	949					positive regulation of telomere maintenance via telomerase|protein ADP-ribosylation|protein localization to chromosome, telomeric region	Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity			kidney(3)|skin(2)|ovary(1)|lung(1)	7		Colorectal(252;0.162)								718				0.424	141.838963	142.471845	53	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93604796	93604796	16862	10	C	A	A	32	32	TNKS2	A	3	3
TNKS2	80351	broad.mit.edu	36	10	93607216	93607216	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93607216G>T	uc001khp.1	+	c.3043G>T	c.(3043-3045)GAA>TAA	p.E1015*		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1015	PARP catalytic.				positive regulation of telomere maintenance via telomerase|protein ADP-ribosylation|protein localization to chromosome, telomeric region	Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity			kidney(3)|skin(2)|ovary(1)|lung(1)	7		Colorectal(252;0.162)							p.E1015K(SNU1040-Tumor)	718				0.198276	41.661733	51.496133	23	93	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93607216	93607216	16862	10	G	T	T	33	33	TNKS2	T	5	3
FGFBP3	143282	broad.mit.edu	36	10	93657954	93657954	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93657954G>T	uc001khq.2	-	c.753C>A	c.(751-753)TTC>TTA	p.F251L	FGFBP3_uc009xtz.1_Missense_Mutation_p.F251L	NM_152429	NP_689642	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	251					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding				0		Colorectal(252;0.162)												0.197917	34.271817	42.431679	19	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93657954	93657954	6099	10	G	T	T	33	33	FGFBP3	T	3	3
BTAF1	9044	broad.mit.edu	36	10	93692170	93692170	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93692170G>A	uc001khr.1	+	c.265G>A	c.(265-267)GAA>AAA	p.E89K	BTAF1_uc009xua.1_Non-coding_Transcript	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	89					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)	2		Colorectal(252;0.0846)												0.462366	123.415137	123.529712	43	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93692170	93692170	1568	10	G	A	A	37	37	BTAF1	A	1	1
BTAF1	9044	broad.mit.edu	36	10	93712396	93712396	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93712396T>C	uc001khr.1	+	c.1385T>C	c.(1384-1386)GTC>GCC	p.V462A	BTAF1_uc001khs.1_Missense_Mutation_p.V132A	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	462	HEAT 2.				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)	2		Colorectal(252;0.0846)												0.243056	100.257482	108.921146	35	109	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93712396	93712396	1568	10	T	C	C	58	58	BTAF1	C	4	4
BTAF1	9044	broad.mit.edu	36	10	93734109	93734109	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93734109A>G	uc001khr.1	+	c.2395A>G	c.(2395-2397)AAT>GAT	p.N799D	BTAF1_uc001khs.1_Missense_Mutation_p.N469D|BTAF1_uc001kht.1_Missense_Mutation_p.N237D	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	799					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)	2		Colorectal(252;0.0846)												0.2	42.258014	48.950599	16	64	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93734109	93734109	1568	10	A	G	G	5	5	BTAF1	G	4	4
IDE	3416	broad.mit.edu	36	10	94229026	94229026	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:94229026G>T	uc001kia.2	-	c.1872C>A	c.(1870-1872)ATC>ATA	p.I624I	IDE_uc001khz.2_Intron	NM_004969	NP_004960	P14735	IDE_HUMAN	insulysin	624					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.208661	103.522675	123.500819	53	201	GG		KEEP	---	---	---	---	capture			Silent	SNP	94229026	94229026	7793	10	G	T	T	33	33	IDE	T	3	3
KIF11	3832	broad.mit.edu	36	10	94378601	94378601	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:94378601A>T	uc001kic.1	+	c.1274A>T	c.(1273-1275)AAA>ATA	p.K425I		NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	425	Potential.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding				0						Colon(47;212 1003 2764 4062 8431)								0.5	58.870538	58.870538	21	21	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94378601	94378601	8583	10	A	T	T	1	1	KIF11	T	4	4
HHEX	3087	broad.mit.edu	36	10	94442110	94442110	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:94442110C>T	uc001kid.1	+	c.367C>T	c.(367-369)CCT>TCT	p.P123S		NM_002729	NP_002720	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	123	Pro-rich.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription by competitive promoter binding|negative regulation of transcription by transcription factor localization|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|promoter binding|protein homodimerization activity|repressing transcription factor binding|TBP-class protein binding			ovary(1)	1														0.370861	144.529886	146.714303	56	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94442110	94442110	7375	10	C	T	T	18	18	HHEX	T	2	2
HHEX	3087	broad.mit.edu	36	10	94442460	94442460	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:94442460C>T	uc001kid.1	+	c.562C>T	c.(562-564)CGA>TGA	p.R188*		NM_002729	NP_002720	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	188	Homeobox.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription by competitive promoter binding|negative regulation of transcription by transcription factor localization|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|promoter binding|protein homodimerization activity|repressing transcription factor binding|TBP-class protein binding			ovary(1)	1														0.5	222.690867	222.690867	76	76	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	94442460	94442460	7375	10	C	T	T	31	31	HHEX	T	5	1
EXOC6	54536	broad.mit.edu	36	10	94704383	94704383	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:94704383G>A	uc001kig.1	+	c.1543G>A	c.(1543-1545)GAT>AAT	p.D515N	EXOC6_uc001kie.1_Missense_Mutation_p.D510N|EXOC6_uc009xub.1_Missense_Mutation_p.D514N|EXOC6_uc009xuc.1_Missense_Mutation_p.D412N|EXOC6_uc001kih.1_Non-coding_Transcript|EXOC6_uc001kii.1_Missense_Mutation_p.D89N	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	515					protein transport|vesicle docking involved in exocytosis	exocyst					0		Colorectal(252;0.123)												0.219895	90.35397	104.152535	42	149	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94704383	94704383	5501	10	G	A	A	37	37	EXOC6	A	1	1
CYP26C1	340665	broad.mit.edu	36	10	94812742	94812742	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:94812742G>A	uc001kij.1	+	c.705G>A	c.(703-705)AAG>AAA	p.K235K	CYP26C1_uc009xud.1_Non-coding_Transcript	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	235					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|oxidation-reduction process|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)												0.483516	133.590378	133.612084	44	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	94812742	94812742	4322	10	G	A	A	35	35	CYP26C1	A	2	2
MYOF	26509	broad.mit.edu	36	10	95060315	95060315	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95060315C>T	uc001kin.1	-	c.5965G>A	c.(5965-5967)GAA>AAA	p.E1989K	MYOF_uc001kio.1_Missense_Mutation_p.E1976K|MYOF_uc009xue.1_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1989	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.236842	119.130844	133.568264	54	174	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95060315	95060315	10484	10	C	T	T	31	31	MYOF	T	1	1
MYOF	26509	broad.mit.edu	36	10	95062905	95062905	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95062905C>T	uc001kin.1	-	c.5751G>A	c.(5749-5751)GAG>GAA	p.E1917E	MYOF_uc001kio.1_Silent_p.E1904E|MYOF_uc009xue.1_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1917	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.201705	156.706304	185.829105	71	281	CC		KEEP	---	---	---	---	capture			Silent	SNP	95062905	95062905	10484	10	C	T	T	32	32	MYOF	T	2	2
MYOF	26509	broad.mit.edu	36	10	95069630	95069630	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95069630C>T	uc001kin.1	-	c.5587G>A	c.(5587-5589)GTT>ATT	p.V1863I	MYOF_uc001kio.1_Missense_Mutation_p.V1850I|MYOF_uc009xue.1_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1863	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.421769	170.519967	171.305696	62	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95069630	95069630	10484	10	C	T	T	19	19	MYOF	T	1	1
MYOF	26509	broad.mit.edu	36	10	95078570	95078570	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95078570G>T	uc001kin.1	-	c.5071C>A	c.(5071-5073)CTT>ATT	p.L1691I	MYOF_uc001kio.1_Missense_Mutation_p.L1678I|MYOF_uc009xue.1_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1691	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.206845	275.705098	329.27872	139	533	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95078570	95078570	10484	10	G	T	T	35	35	MYOF	T	3	3
MYOF	26509	broad.mit.edu	36	10	95093638	95093638	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95093638C>T	uc001kin.1	-	c.4291G>A	c.(4291-4293)GAA>AAA	p.E1431K	MYOF_uc001kio.1_Missense_Mutation_p.E1418K|MYOF_uc009xue.1_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1431	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.464968	211.563601	211.730655	73	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95093638	95093638	10484	10	C	T	T	31	31	MYOF	T	1	1
MYOF	26509	broad.mit.edu	36	10	95097527	95097527	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95097527G>T	uc001kin.1	-	c.4086C>A	c.(4084-4086)TTC>TTA	p.F1362L	MYOF_uc001kio.1_Missense_Mutation_p.F1349L|MYOF_uc009xue.1_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1362	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.41129	133.286098	134.142124	51	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95097527	95097527	10484	10	G	T	T	33	33	MYOF	T	3	3
MYOF	26509	broad.mit.edu	36	10	95106486	95106486	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95106486C>A	uc001kin.1	-	c.3230G>T	c.(3229-3231)AGG>ATG	p.R1077M	MYOF_uc001kio.1_Missense_Mutation_p.R1064M|MYOF_uc009xue.1_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1077	Cytoplasmic (Potential).|Poly-Arg.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.412121	178.756532	179.871615	68	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95106486	95106486	10484	10	C	A	A	24	24	MYOF	A	3	3
MYOF	26509	broad.mit.edu	36	10	95113734	95113734	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95113734G>A	uc001kin.1	-	c.2842C>T	c.(2842-2844)CCG>TCG	p.P948S	MYOF_uc001kio.1_Missense_Mutation_p.P935S|MYOF_uc009xue.1_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	948	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.408451	230.294663	231.846984	87	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95113734	95113734	10484	10	G	A	A	42	42	MYOF	A	2	2
MYOF	26509	broad.mit.edu	36	10	95159351	95159351	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95159351C>T	uc001kin.1	-	c.569G>A	c.(568-570)CGG>CAG	p.R190Q	MYOF_uc001kio.1_Missense_Mutation_p.R190Q|MYOF_uc001kip.2_Missense_Mutation_p.R190Q|MYOF_uc009xuf.1_Missense_Mutation_p.R172Q	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	190	C2 2.|Cytoplasmic (Potential).|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.243548	361.423333	398.587482	151	469	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95159351	95159351	10484	10	C	T	T	23	23	MYOF	T	1	1
CEP55	55165	broad.mit.edu	36	10	95266717	95266717	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95266717G>A	uc009xug.1	+	c.715G>A	c.(715-717)GAT>AAT	p.D239N	CEP55_uc001kiq.2_Missense_Mutation_p.D239N	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	239	Potential.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)												0.371212	132.943933	134.866018	49	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95266717	95266717	3388	10	G	A	A	37	37	CEP55	A	1	1
RBP4	5950	broad.mit.edu	36	10	95350165	95350165	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95350165G>A	uc001kit.1	-	c.330C>T	c.(328-330)GGC>GGT	p.G110G		NM_006744	NP_006735	P02753	RET4_HUMAN	retinol-binding protein 4, plasma precursor	110					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding|retinol transporter activity				0		Colorectal(252;0.122)			Vitamin A(DB00162)	Pancreas(5;160 256 1117 46697 50185)								0.256281	110.82818	121.554348	51	148	GG		KEEP	---	---	---	---	capture			Silent	SNP	95350165	95350165	13627	10	G	A	A	38	38	RBP4	A	1	1
FRA10AC1	118924	broad.mit.edu	36	10	95449786	95449786	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95449786C>A	uc001kiz.1	-	c.68G>T	c.(67-69)AGG>ATG	p.R23M	FRA10AC1_uc001kiv.1_Non-coding_Transcript|FRA10AC1_uc001kja.1_Missense_Mutation_p.R23M|FRA10AC1_uc001kjb.1_Missense_Mutation_p.R23M|FRA10AC1_uc009xuh.1_Missense_Mutation_p.R24M	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	FRA10AC1 protein	23						nucleus	protein binding				0														0.228571	51.742033	58.841715	24	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95449786	95449786	6287	10	C	A	A	24	24	FRA10AC1	A	3	3
LGI1	9211	broad.mit.edu	36	10	95547544	95547544	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95547544C>T	uc001kjc.2	+	c.1668C>T	c.(1666-1668)AGC>AGT	p.S556S	LGI1_uc001kjd.2_3'UTR|LGI1_uc009xui.1_Non-coding_Transcript|LGI1_uc001kje.1_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	556					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.124)												0.402878	152.274953	153.419805	56	83	CC		KEEP	---	---	---	---	capture			Silent	SNP	95547544	95547544	9077	10	C	T	T	27	27	LGI1	T	1	1
TMEM20	159371	broad.mit.edu	36	10	95648372	95648372	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95648372C>A	uc001kjg.1	+	c.233C>A	c.(232-234)TCT>TAT	p.S78Y	TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.S77Y|TMEM20_uc001kjh.2_Intron|TMEM20_uc001kjj.2_Intron	NM_153226	NP_694958	Q2M3R5	TMM20_HUMAN	transmembrane protein 20 isoform 2	78	Helical; (Potential).					integral to membrane					0		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)												0.162996	55.425757	79.944569	37	190	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(243;0.00345)	Missense_Mutation	SNP	95648372	95648372	16657	10	C	A	A	32	32	TMEM20	A	3	3
PLCE1	51196	broad.mit.edu	36	10	95781071	95781071	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95781071A>G	uc001kjk.1	+	c.278A>G	c.(277-279)AAA>AGA	p.K93R		NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	93					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.166667	61.057057	77.484397	26	130	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95781071	95781071	12460	10	A	G	G	1	1	PLCE1	G	4	4
PLCE1	51196	broad.mit.edu	36	10	96018695	96018695	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96018695G>A	uc001kjk.1	+	c.4301G>A	c.(4300-4302)CGA>CAA	p.R1434Q	PLCE1_uc001kjm.2_Missense_Mutation_p.R1126Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1434	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.182609	39.310698	50.187466	21	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96018695	96018695	12460	10	G	A	A	37	37	PLCE1	A	1	1
PLCE1	51196	broad.mit.edu	36	10	96058374	96058374	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96058374G>T	uc001kjk.1	+	c.5931G>T	c.(5929-5931)GAG>GAT	p.E1977D	PLCE1_uc001kjm.2_Missense_Mutation_p.E1669D|PLCE1_uc001kjp.2_Missense_Mutation_p.E335D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1977					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.16835	78.540629	109.513175	50	247	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96058374	96058374	12460	10	G	T	T	33	33	PLCE1	T	3	3
PLCE1	51196	broad.mit.edu	36	10	96074689	96074689	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96074689G>T	uc001kjk.1	+	c.6771G>T	c.(6769-6771)AAG>AAT	p.K2257N	PLCE1_uc001kjm.2_Missense_Mutation_p.K1949N|PLCE1_uc001kjp.2_Missense_Mutation_p.K615N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2257					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.20915	61.303211	73.298693	32	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96074689	96074689	12460	10	G	T	T	33	33	PLCE1	T	3	3
NOC3L	64318	broad.mit.edu	36	10	96099906	96099906	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96099906T>G	uc001kjq.1	-	c.1082A>C	c.(1081-1083)AAC>ACC	p.N361T	NOC3L_uc009xuk.1_Missense_Mutation_p.N146T	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	361						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)												0.248428	223.989996	242.281338	79	239	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96099906	96099906	10917	10	T	G	G	60	60	NOC3L	G	4	4
HELLS	3070	broad.mit.edu	36	10	96323766	96323766	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96323766G>A	uc009xuo.1	+	c.537G>A	c.(535-537)TCG>TCA	p.S179S	HELLS_uc001kjs.1_Silent_p.S163S|HELLS_uc001kjt.1_Silent_p.S179S|HELLS_uc009xul.1_Silent_p.S179S|HELLS_uc009xum.1_Silent_p.S179S|HELLS_uc009xun.1_Silent_p.S55S|HELLS_uc001kju.1_5'UTR|HELLS_uc009xup.1_Non-coding_Transcript|HELLS_uc009xuq.1_Silent_p.S41S|HELLS_uc009xur.1_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	179					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)												0.432624	341.798325	342.915398	122	160	GG		KEEP	---	---	---	---	capture		all cancers(201;2.13e-05)	Silent	SNP	96323766	96323766	7329	10	G	A	A	37	37	HELLS	A	1	1
CYP2C18	1562	broad.mit.edu	36	10	96456597	96456597	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96456597T>G	uc001kjv.2	+	c.709T>G	c.(709-711)TTT>GTT	p.F237V	CYP2C18_uc001kjw.2_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc001kjx.1_De_novo_Start_InFrame	NM_000772	NP_000763	P33260	CP2CI_HUMAN	cytochrome P450 family 2 subfamily C polypeptide	237					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(3)|lung(1)	4		Colorectal(252;0.09)												0.201835	58.193037	67.191905	22	87	TT		KEEP	---	---	---	---	capture		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Missense_Mutation	SNP	96456597	96456597	4330	10	T	G	G	64	64	CYP2C18	G	4	4
CYP2C9	1559	broad.mit.edu	36	10	96735805	96735805	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96735805C>A	uc001kka.2	+	c.1175C>A	c.(1174-1176)ACT>AAT	p.T392N	CYP2C9_uc009xut.1_Missense_Mutation_p.T390N	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	392					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			ovary(2)	2		Colorectal(252;0.0902)			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)	Ovarian(54;1266 1406 16072 35076)								0.21021	151.05386	176.942265	70	263	CC		KEEP	---	---	---	---	capture		all cancers(201;6.93e-05)	Missense_Mutation	SNP	96735805	96735805	4333	10	C	A	A	20	20	CYP2C9	A	3	3
CYP2C8	1558	broad.mit.edu	36	10	96814590	96814590	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96814590C>A	uc001kkb.1	-	c.599G>T	c.(598-600)AGA>ATA	p.R200I	CYP2C8_uc001kkc.1_Non-coding_Transcript	NM_000770	NP_000761	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C,	200					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding				0		Colorectal(252;0.0397)			Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)									0.385475	176.506737	178.57274	69	110	CC		KEEP	---	---	---	---	capture		all cancers(201;6.21e-05)	Missense_Mutation	SNP	96814590	96814590	4332	10	C	A	A	32	32	CYP2C8	A	3	3
PDLIM1	9124	broad.mit.edu	36	10	97021405	97021405	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97021405C>T	uc001kkh.1	-	c.223G>A	c.(223-225)GAC>AAC	p.D75N	PDLIM1_uc001kki.1_Missense_Mutation_p.D75N|PDLIM1_uc009xuv.1_Missense_Mutation_p.D75N|PDLIM1_uc001kkj.1_Missense_Mutation_p.D75N	NM_020992	NP_066272	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	75	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding				0		Colorectal(252;0.083)												0.23185	234.089062	262.224775	99	328	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	Missense_Mutation	SNP	97021405	97021405	12100	10	C	T	T	32	32	PDLIM1	T	2	2
SORBS1	10580	broad.mit.edu	36	10	97086694	97086694	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97086694G>T	uc001kkp.1	-	c.3213C>A	c.(3211-3213)TCC>TCA	p.S1071S	SORBS1_uc001kkk.1_Intron|SORBS1_uc001kkl.1_Intron|SORBS1_uc001kkm.1_Intron|SORBS1_uc001kkn.1_Intron|SORBS1_uc001kko.1_Intron|SORBS1_uc001kkq.1_Intron|SORBS1_uc001kkr.1_Intron|SORBS1_uc001kks.1_Intron|SORBS1_uc001kkt.1_Intron|SORBS1_uc001kku.1_Intron|SORBS1_uc001kkv.1_Intron|SORBS1_uc001kkw.1_Silent_p.S1025S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	1071					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)												0.48125	210.850642	210.8999	77	83	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	Silent	SNP	97086694	97086694	15427	10	G	T	T	43	43	SORBS1	T	3	3
SORBS1	10580	broad.mit.edu	36	10	97104684	97104684	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97104684G>A	uc001kkp.1	-	c.2159C>T	c.(2158-2160)GCT>GTT	p.A720V	SORBS1_uc001kkk.1_Missense_Mutation_p.A214V|SORBS1_uc001kkl.1_Missense_Mutation_p.A322V|SORBS1_uc001kkm.1_Missense_Mutation_p.A520V|SORBS1_uc001kkn.1_Missense_Mutation_p.A485V|SORBS1_uc001kko.1_Missense_Mutation_p.A742V|SORBS1_uc001kkq.1_Missense_Mutation_p.A571V|SORBS1_uc001kkr.1_Missense_Mutation_p.A426V|SORBS1_uc001kks.1_Missense_Mutation_p.A426V|SORBS1_uc001kkt.1_Non-coding_Transcript|SORBS1_uc001kku.1_Missense_Mutation_p.A467V|SORBS1_uc001kkv.1_Missense_Mutation_p.A558V|SORBS1_uc001kkw.1_Missense_Mutation_p.A674V	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	720					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)												0.402174	104.651532	105.422731	37	55	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	Missense_Mutation	SNP	97104684	97104684	15427	10	G	A	A	34	34	SORBS1	A	2	2
SORBS1	10580	broad.mit.edu	36	10	97107472	97107472	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97107472C>T	uc001kkp.1	-	c.2034G>A	c.(2032-2034)GAG>GAA	p.E678E	SORBS1_uc001kkk.1_Silent_p.E172E|SORBS1_uc001kkl.1_Silent_p.E280E|SORBS1_uc001kkm.1_Silent_p.E478E|SORBS1_uc001kkn.1_Silent_p.E443E|SORBS1_uc001kko.1_Silent_p.E700E|SORBS1_uc001kkq.1_Silent_p.E529E|SORBS1_uc001kkr.1_Silent_p.E384E|SORBS1_uc001kks.1_Silent_p.E384E|SORBS1_uc001kkt.1_Non-coding_Transcript|SORBS1_uc001kku.1_Silent_p.E425E|SORBS1_uc001kkv.1_Silent_p.E516E|SORBS1_uc001kkw.1_Silent_p.E632E	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	678					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)												0.454082	265.147988	265.508363	89	107	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	Silent	SNP	97107472	97107472	15427	10	C	T	T	32	32	SORBS1	T	2	2
SORBS1	10580	broad.mit.edu	36	10	97164274	97164274	+	Silent	SNP	C	A	A	rs35592879	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97164274C>A	uc001kkp.1	-	c.777G>T	c.(775-777)TCG>TCT	p.S259S	SORBS1_uc001kkl.1_5'UTR|SORBS1_uc001kkm.1_Intron|SORBS1_uc001kkn.1_Intron|SORBS1_uc001kko.1_Silent_p.S259S|SORBS1_uc001kkq.1_Silent_p.S190S|SORBS1_uc001kkr.1_Intron|SORBS1_uc001kks.1_Intron|SORBS1_uc001kkt.1_Non-coding_Transcript|SORBS1_uc001kku.1_Intron|SORBS1_uc001kkv.1_Silent_p.S227S|SORBS1_uc001kkw.1_Silent_p.S259S|SORBS1_uc001kkx.1_Silent_p.S227S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	259					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)												0.206612	56.921012	66.56682	25	96	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	Silent	SNP	97164274	97164274	15427	10	C	A	A	23	23	SORBS1	A	3	3
ALDH18A1	5832	broad.mit.edu	36	10	97363745	97363745	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97363745G>T	uc001kkz.1	-	c.1769C>A	c.(1768-1770)TCC>TAC	p.S590Y	ALDH18A1_uc001kky.1_Missense_Mutation_p.S588Y	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	590	Gamma-glutamyl phosphate reductase.				oxidation-reduction process|proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|pancreas(1)	2		Colorectal(252;0.0402)			L-Glutamic Acid(DB00142)									0.443149	412.427351	413.396517	152	191	GG		KEEP	---	---	---	---	capture		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	Missense_Mutation	SNP	97363745	97363745	492	10	G	T	T	41	41	ALDH18A1	T	3	3
ENTPD1	953	broad.mit.edu	36	10	97597200	97597200	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97597200G>T	uc001kli.2	+	c.842G>T	c.(841-843)AGT>ATT	p.S281I	ENTPD1_uc001klh.2_Missense_Mutation_p.S274I|ENTPD1_uc009xuz.1_Intron|ENTPD1_uc009xva.1_Missense_Mutation_p.S136I	NM_001098175	NP_001091645	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	274	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)												0.364078	208.559648	211.911567	75	131	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	Missense_Mutation	SNP	97597200	97597200	5331	10	G	T	T	36	36	ENTPD1	T	3	3
ENTPD1	953	broad.mit.edu	36	10	97597315	97597315	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97597315G>A	uc001kli.2	+	c.957G>A	c.(955-957)CAG>CAA	p.Q319Q	ENTPD1_uc001klh.2_Silent_p.Q312Q|ENTPD1_uc009xuz.1_Intron|ENTPD1_uc009xva.1_Silent_p.Q174Q	NM_001098175	NP_001091645	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	312	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)												0.484305	321.270361	321.318872	108	115	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	Silent	SNP	97597315	97597315	5331	10	G	A	A	34	34	ENTPD1	A	2	2
CC2D2B	387707	broad.mit.edu	36	10	97763557	97763557	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97763557C>A	uc001kll.1	+	c.341C>A	c.(340-342)TCT>TAT	p.S114Y	CC2D2B_uc001klk.1_Intron	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	114										ovary(1)	1		Colorectal(252;0.158)												0.244444	48.19806	53.559607	22	68	CC		KEEP	---	---	---	---	capture		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	Missense_Mutation	SNP	97763557	97763557	2849	10	C	A	A	32	32	CC2D2B	A	3	3
ZNF518A	9849	broad.mit.edu	36	10	97909349	97909349	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97909349C>A	uc001klp.1	+	c.3280C>A	c.(3280-3282)CTT>ATT	p.L1094I	ZNF518A_uc001klq.1_Missense_Mutation_p.L1094I|ZNF518A_uc001klr.1_Missense_Mutation_p.L1094I|ZNF518A_uc001klo.1_Missense_Mutation_p.L564I	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1094					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)												0.191589	73.931476	92.97075	41	173	CC		KEEP	---	---	---	---	capture		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	Missense_Mutation	SNP	97909349	97909349	18556	10	C	A	A	32	32	ZNF518A	A	3	3
BLNK	29760	broad.mit.edu	36	10	97992525	97992525	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97992525T>G	uc001kls.2	-	c.119A>C	c.(118-120)AAA>ACA	p.K40T	BLNK_uc001kme.2_Intron|BLNK_uc001klt.2_Intron|BLNK_uc009xvc.1_Non-coding_Transcript|BLNK_uc001klu.2_Intron|BLNK_uc001klv.2_Missense_Mutation_p.K40T|BLNK_uc001klw.2_Intron|BLNK_uc001klx.2_Missense_Mutation_p.K40T|BLNK_uc001kly.2_Missense_Mutation_p.K40T|BLNK_uc001klz.2_Non-coding_Transcript|BLNK_uc001kma.2_Missense_Mutation_p.K40T|BLNK_uc001kmb.2_5'UTR|BLNK_uc001kmc.2_Non-coding_Transcript|BLNK_uc001kmd.2_Intron|BLNK_uc009xvd.1_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	40					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity				0		Colorectal(252;0.083)								449				0.494565	307.207954	307.212794	91	93	TT		KEEP	---	---	---	---	capture		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	Missense_Mutation	SNP	97992525	97992525	1472	10	T	G	G	64	64	BLNK	G	4	4
TLL2	7093	broad.mit.edu	36	10	98163062	98163062	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98163062C>A	uc001kml.1	-	c.925G>T	c.(925-927)GGA>TGA	p.G309*	TLL2_uc009xvf.1_Nonsense_Mutation_p.G257*	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	309	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(252;0.0846)												0.195122	31.048818	38.16061	16	66	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	Nonsense_Mutation	SNP	98163062	98163062	16476	10	C	A	A	24	24	TLL2	A	5	3
TLL2	7093	broad.mit.edu	36	10	98170746	98170746	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98170746C>T	uc001kml.1	-	c.880G>A	c.(880-882)GAC>AAC	p.D294N	TLL2_uc009xvf.1_Missense_Mutation_p.D242N	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	294	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(252;0.0846)												0.448276	556.358989	557.373413	195	240	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	Missense_Mutation	SNP	98170746	98170746	16476	10	C	T	T	31	31	TLL2	T	1	1
TLL2	7093	broad.mit.edu	36	10	98172386	98172386	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98172386C>T	uc001kml.1	-	c.727G>A	c.(727-729)GAG>AAG	p.E243K	TLL2_uc009xvf.1_Missense_Mutation_p.E191K	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	243	Metalloprotease (By similarity).	By similarity.			cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(252;0.0846)												0.417526	219.929477	221.083207	81	113	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	Missense_Mutation	SNP	98172386	98172386	16476	10	C	T	T	31	31	TLL2	T	1	1
PIK3AP1	118788	broad.mit.edu	36	10	98370125	98370125	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98370125G>A	uc001kmq.1	-	c.1915C>T	c.(1915-1917)CGA>TGA	p.R639*	PIK3AP1_uc001kmo.1_Nonsense_Mutation_p.R238*|PIK3AP1_uc001kmp.1_Nonsense_Mutation_p.R461*	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	639						cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)												0.228228	161.837249	184.400246	76	257	GG		KEEP	---	---	---	---	capture		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	Nonsense_Mutation	SNP	98370125	98370125	12332	10	G	A	A	40	40	PIK3AP1	A	5	1
PIK3AP1	118788	broad.mit.edu	36	10	98406621	98406621	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98406621G>A	uc001kmq.1	-	c.491C>T	c.(490-492)TCG>TTG	p.S164L	PIK3AP1_uc001kmp.1_5'UTR	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	164						cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)												0.277778	116.977097	124.974145	50	130	GG		KEEP	---	---	---	---	capture		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	Missense_Mutation	SNP	98406621	98406621	12332	10	G	A	A	37	37	PIK3AP1	A	1	1
SLIT1	6585	broad.mit.edu	36	10	98752513	98752513	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98752513G>A	uc001kmw.2	-	c.4092C>T	c.(4090-4092)TGC>TGT	p.C1364C		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1	1364	EGF-like 7.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)												0.493333	104.877416	104.880128	37	38	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	Silent	SNP	98752513	98752513	15237	10	G	A	A	38	38	SLIT1	A	1	1
SLIT1	6585	broad.mit.edu	36	10	98809241	98809241	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98809241C>T	uc001kmw.2	-	c.1051G>A	c.(1051-1053)GAC>AAC	p.D351N	SLIT1_uc009xvh.1_Missense_Mutation_p.D361N	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1	351	LRR 8.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)												0.440559	175.833047	176.266816	63	80	CC		KEEP	---	---	---	---	capture		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	Missense_Mutation	SNP	98809241	98809241	15237	10	C	T	T	31	31	SLIT1	T	1	1
RRP12	23223	broad.mit.edu	36	10	99131475	99131475	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99131475G>A	uc001knf.1	-	c.1307C>T	c.(1306-1308)ACG>ATG	p.T436M	RRP12_uc009xvm.1_Missense_Mutation_p.T154M|RRP12_uc009xvn.1_Missense_Mutation_p.T336M	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog	436						integral to membrane|nuclear membrane|nucleolus	protein binding	p.T436M(1)		ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)												0.42	114.925329	115.485336	42	58	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	Missense_Mutation	SNP	99131475	99131475	14166	10	G	A	A	40	40	RRP12	A	1	1
ZDHHC16	84287	broad.mit.edu	36	10	99202163	99202163	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99202163G>A	uc001knj.1	+	c.440G>A	c.(439-441)GGC>GAC	p.G147D	ZDHHC16_uc001knp.1_Missense_Mutation_p.G147D|ZDHHC16_uc001knk.1_Missense_Mutation_p.G147D|ZDHHC16_uc001knl.1_Missense_Mutation_p.G147D|ZDHHC16_uc001knm.1_Missense_Mutation_p.G82D|ZDHHC16_uc001knn.1_Missense_Mutation_p.G147D|ZDHHC16_uc009xvq.1_Non-coding_Transcript|ZDHHC16_uc001kno.1_Missense_Mutation_p.G147D|ZDHHC16_uc009xvr.1_Missense_Mutation_p.G147D	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1	147	Cytoplasmic (Potential).				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)												0.227941	70.04874	79.289702	31	105	GG		KEEP	---	---	---	---	capture		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	Missense_Mutation	SNP	99202163	99202163	18194	10	G	A	A	42	42	ZDHHC16	A	2	2
MMS19	64210	broad.mit.edu	36	10	99209946	99209946	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99209946G>T	uc001kns.2	-	c.2503C>A	c.(2503-2505)CCA>ACA	p.P835T	MMS19_uc009xvt.1_Missense_Mutation_p.P579T|MMS19_uc001knr.1_Missense_Mutation_p.P676T|MMS19_uc001knt.1_Missense_Mutation_p.P835T|MMS19_uc001knu.1_Non-coding_Transcript|MMS19_uc001knq.1_Missense_Mutation_p.P98T|MMS19_uc009xvs.1_Missense_Mutation_p.P420T	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	835					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)												0.435644	113.569022	113.934718	44	57	GG		KEEP	---	---	---	---	capture		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	Missense_Mutation	SNP	99209946	99209946	10063	10	G	T	T	41	41	MMS19	T	3	3
DHDPSL	112817	broad.mit.edu	36	10	99351710	99351710	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99351710G>T	uc001kny.1	+	c.807G>T	c.(805-807)CAG>CAT	p.Q269H	DHDPSL_uc001knz.1_Missense_Mutation_p.Q106H	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN	DHDPS-like protein isoform 1	269						mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity				0														0.5	27.563582	27.563582	10	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99351710	99351710	4659	10	G	T	T	34	34	DHDPSL	T	3	3
PI4K2A	55361	broad.mit.edu	36	10	99414709	99414709	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99414709G>T	uc001kog.1	+	c.1062G>T	c.(1060-1062)AAG>AAT	p.K354N	PI4K2A_uc009xvw.1_Intron	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	354	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)								218				0.168675	24.995038	33.626724	14	69	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	Missense_Mutation	SNP	99414709	99414709	12295	10	G	T	T	34	34	PI4K2A	T	3	3
SFRP5	6425	broad.mit.edu	36	10	99517368	99517368	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99517368G>A	uc001kor.2	-	c.847C>T	c.(847-849)CGC>TGC	p.R283C		NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	283	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0		Colorectal(252;0.234)												0.160714	43.93325	62.331502	27	141	GG		KEEP	---	---	---	---	capture		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	Missense_Mutation	SNP	99517368	99517368	14653	10	G	A	A	39	39	SFRP5	A	1	1
CRTAC1	55118	broad.mit.edu	36	10	99685972	99685972	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99685972G>A	uc001kou.1	-	c.366C>T	c.(364-366)ATC>ATT	p.I122I	CRTAC1_uc001kov.2_Silent_p.I111I|CRTAC1_uc001kot.1_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	122	FG-GAP 2; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)												0.137615	19.350305	33.202314	15	94	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	Silent	SNP	99685972	99685972	4035	10	G	A	A	37	37	CRTAC1	A	1	1
C10orf28	27291	broad.mit.edu	36	10	99981406	99981406	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99981406G>T	uc001kox.2	+	c.1975G>T	c.(1975-1977)GAC>TAC	p.D659Y	C10orf28_uc001kow.2_Missense_Mutation_p.D645Y|C10orf28_uc001koy.2_Missense_Mutation_p.D645Y|C10orf28_uc009xvx.1_Missense_Mutation_p.D645Y|C10orf28_uc009xvy.1_Missense_Mutation_p.D51Y|C10orf28_uc001koz.2_Non-coding_Transcript	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	645							nucleotide binding			large_intestine(1)	1		Colorectal(252;0.234)												0.407895	248.81164	250.506556	93	135	GG		KEEP	---	---	---	---	capture		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	Missense_Mutation	SNP	99981406	99981406	1638	10	G	T	T	33	33	C10orf28	T	3	3
C10orf28	27291	broad.mit.edu	36	10	99993863	99993863	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99993863A>C	uc001kox.2	+	c.2337A>C	c.(2335-2337)CAA>CAC	p.Q779H	C10orf28_uc001kow.2_Missense_Mutation_p.Q765H|C10orf28_uc001koy.2_Missense_Mutation_p.Q765H|C10orf28_uc009xvx.1_Missense_Mutation_p.Q765H|C10orf28_uc009xvy.1_Missense_Mutation_p.Q171H|C10orf28_uc001koz.2_Non-coding_Transcript	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	765							nucleotide binding			large_intestine(1)	1		Colorectal(252;0.234)												0.398693	197.339588	198.714093	61	92	AA		KEEP	---	---	---	---	capture		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	Missense_Mutation	SNP	99993863	99993863	1638	10	A	C	C	2	2	C10orf28	C	4	4
TRPC6	7225	broad.mit.edu	36	11	100848242	100848242	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:100848242C>T	uc001pgk.2	-	c.2041G>A	c.(2041-2043)GCT>ACT	p.A681T	TRPC6_uc009ywy.1_Missense_Mutation_p.A565T|TRPC6_uc009ywz.1_Missense_Mutation_p.A626T	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	681	Extracellular (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)				Colon(166;1315 1927 11094 12848 34731)								0.219895	91.426246	105.250486	42	149	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.0442)	Missense_Mutation	SNP	100848242	100848242	17134	11	C	T	T	26	26	TRPC6	T	2	2
ANGPTL5	253935	broad.mit.edu	36	11	101267257	101267257	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101267257A>G	uc001pgl.1	-	c.1130T>C	c.(1129-1131)ATG>ACG	p.M377T		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	377	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)												0.466102	309.721688	309.956727	110	126	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.0328)	Missense_Mutation	SNP	101267257	101267257	620	11	A	G	G	8	8	ANGPTL5	G	4	4
ANGPTL5	253935	broad.mit.edu	36	11	101270863	101270863	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101270863C>T	uc001pgl.1	-	c.804G>A	c.(802-804)ACG>ACA	p.T268T		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	268	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)												0.204082	62.165665	74.11569	30	117	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.0328)	Silent	SNP	101270863	101270863	620	11	C	T	T	31	31	ANGPTL5	T	1	1
KIAA1377	57562	broad.mit.edu	36	11	101298691	101298691	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101298691C>T	uc001pgm.1	+	c.238C>T	c.(238-240)CGG>TGG	p.R80W	KIAA1377_uc001pgn.1_Missense_Mutation_p.R36W	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	80	Potential.						protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)												0.362319	66.65363	67.805595	25	44	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.038)	Missense_Mutation	SNP	101298691	101298691	8536	11	C	T	T	31	31	KIAA1377	T	1	1
KIAA1377	57562	broad.mit.edu	36	11	101337800	101337800	+	Missense_Mutation	SNP	C	T	T	rs11225089	by-cluster,by-frequency,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101337800C>T	uc001pgm.1	+	c.824C>T	c.(823-825)TCC>TTC	p.S275F	KIAA1377_uc001pgn.1_Missense_Mutation_p.S231F|KIAA1377_uc009yxa.1_Missense_Mutation_p.S76F	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	275							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)												0.236486	80.542365	89.94303	35	113	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.038)	Missense_Mutation	SNP	101337800	101337800	8536	11	C	T	T	30	30	KIAA1377	T	2	2
KIAA1377	57562	broad.mit.edu	36	11	101338462	101338462	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101338462G>T	uc001pgm.1	+	c.1486G>T	c.(1486-1488)GAA>TAA	p.E496*	KIAA1377_uc001pgn.1_Nonsense_Mutation_p.E452*|KIAA1377_uc009yxa.1_Nonsense_Mutation_p.E297*	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	496							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)												0.357895	86.011499	87.705966	34	61	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.038)	Nonsense_Mutation	SNP	101338462	101338462	8536	11	G	T	T	45	45	KIAA1377	T	5	3
KIAA1377	57562	broad.mit.edu	36	11	101339500	101339500	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101339500C>T	uc001pgm.1	+	c.2524C>T	c.(2524-2526)CAT>TAT	p.H842Y	KIAA1377_uc001pgn.1_Missense_Mutation_p.H798Y|KIAA1377_uc009yxa.1_Missense_Mutation_p.H643Y	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	842							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)												0.188034	37.67226	48.34452	22	95	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.038)	Missense_Mutation	SNP	101339500	101339500	8536	11	C	T	T	17	17	KIAA1377	T	2	2
C11orf70	85016	broad.mit.edu	36	11	101434873	101434873	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101434873C>A	uc001pgp.1	+	c.245C>A	c.(244-246)TCT>TAT	p.S82Y	C11orf70_uc001pgo.2_Missense_Mutation_p.S82Y|C11orf70_uc001pgq.1_Missense_Mutation_p.S44Y	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	hypothetical protein LOC85016	82											0	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)												0.129032	12.927864	25.4021	12	81	CC		KEEP	---	---	---	---	capture	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	Missense_Mutation	SNP	101434873	101434873	1698	11	C	A	A	32	32	C11orf70	A	3	3
C11orf70	85016	broad.mit.edu	36	11	101459136	101459136	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101459136C>A	uc001pgp.1	+	c.800C>A	c.(799-801)TCT>TAT	p.S267Y	C11orf70_uc001pgq.1_Missense_Mutation_p.S229Y	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	hypothetical protein LOC85016	267											0	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)												0.217241	127.543348	148.94813	63	227	CC		KEEP	---	---	---	---	capture	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	Missense_Mutation	SNP	101459136	101459136	1698	11	C	A	A	32	32	C11orf70	A	3	3
MUC6	4588	broad.mit.edu	36	11	1015025	1015025	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1015025G>A	uc001lsw.2	-	c.3044C>T	c.(3043-3045)ACG>ATG	p.T1015M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1015	VWFD 3.				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)												0.177778	13.273241	17.674416	8	37	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1015025	1015025	10374	11	G	A	A	40	40	MUC6	A	1	1
BIRC3	330	broad.mit.edu	36	11	101701293	101701293	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101701293T>G	uc001pgx.1	+	c.843T>G	c.(841-843)TTT>TTG	p.F281L	BIRC3_uc009yxb.1_Missense_Mutation_p.F281L	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	281	BIR 3.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)								113				0.221519	92.345356	103.616545	35	123	TT		KEEP	---	---	---	---	capture	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	Missense_Mutation	SNP	101701293	101701293	1461	11	T	G	G	64	64	BIRC3	G	4	4
BIRC2	329	broad.mit.edu	36	11	101754029	101754029	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101754029C>A	uc001pgy.1	+	c.1762C>A	c.(1762-1764)CAT>AAT	p.H588N	BIRC2_uc001pgz.1_Missense_Mutation_p.H567N	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	588	RING-type.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)								113				0.478873	290.120734	290.204281	102	111	CC		KEEP	---	---	---	---	capture	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	Missense_Mutation	SNP	101754029	101754029	1460	11	C	A	A	29	29	BIRC2	A	3	3
TMEM123	114908	broad.mit.edu	36	11	101777605	101777605	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101777605C>A	uc001pha.1	-	c.477G>T	c.(475-477)AAG>AAT	p.K159N	TMEM123_uc009yxc.1_Missense_Mutation_p.K140N	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	transmembrane protein 123 precursor	159	Extracellular (Potential).				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(2)	2	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)								67				0.227778	84.464194	96.720901	41	139	CC		KEEP	---	---	---	---	capture	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	Missense_Mutation	SNP	101777605	101777605	16567	11	C	A	A	32	32	TMEM123	A	3	3
MMP7	4316	broad.mit.edu	36	11	101903891	101903891	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101903891C>T	uc001phb.1	-	c.142G>A	c.(142-144)GAA>AAA	p.E48K	MMP7_uc009yxd.1_Missense_Mutation_p.E48K	NM_002423	NP_002414	P09237	MMP7_HUMAN	matrix metalloproteinase 7 preproprotein	48					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(1)	1	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)												0.423729	229.393678	230.292462	75	102	CC		KEEP	---	---	---	---	capture	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Missense_Mutation	SNP	101903891	101903891	10058	11	C	T	T	32	32	MMP7	T	2	2
MMP8	4317	broad.mit.edu	36	11	102094391	102094391	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:102094391G>A	uc001phe.2	-	c.748C>T	c.(748-750)CCT>TCT	p.P250S		NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	250					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)								426				0.254545	36.022914	39.030352	14	41	GG		KEEP	---	---	---	---	capture	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Missense_Mutation	SNP	102094391	102094391	10059	11	G	A	A	43	43	MMP8	A	2	2
MMP10	4319	broad.mit.edu	36	11	102155620	102155620	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:102155620G>T	uc001phg.1	-	c.172C>A	c.(172-174)CTC>ATC	p.L58I		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	58					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)												0.277228	64.348437	68.865287	28	73	GG		KEEP	---	---	---	---	capture	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Missense_Mutation	SNP	102155620	102155620	10039	11	G	T	T	33	33	MMP10	T	3	3
MMP12	4321	broad.mit.edu	36	11	102248883	102248883	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:102248883C>T	uc001phk.1	-	c.272G>A	c.(271-273)CGA>CAA	p.R91Q		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	91	Cysteine switch (By similarity).				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)			Acetohydroxamic Acid(DB00551)									0.466667	59.169929	59.213445	21	24	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.014)	Missense_Mutation	SNP	102248883	102248883	10041	11	C	T	T	31	31	MMP12	T	1	1
MMP13	4322	broad.mit.edu	36	11	102328087	102328087	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:102328087C>T	uc001phl.1	-	c.663G>A	c.(661-663)GCG>GCA	p.A221A		NM_002427	NP_002418	P45452	MMP13_HUMAN	matrix metalloproteinase 13 preproprotein	221					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)												0.203333	117.533585	142.03558	61	239	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Silent	SNP	102328087	102328087	10042	11	C	T	T	27	27	MMP13	T	1	1
PDGFD	80310	broad.mit.edu	36	11	103372097	103372097	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:103372097C>A	uc001phq.1	-	c.416G>T	c.(415-417)AGG>ATG	p.R139M	PDGFD_uc001php.1_Missense_Mutation_p.R133M	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	139	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			large_intestine(1)	1		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)												0.473684	329.635194	329.785516	117	130	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	Missense_Mutation	SNP	103372097	103372097	12081	11	C	A	A	24	24	PDGFD	A	3	3
CASP5	838	broad.mit.edu	36	11	104374821	104374821	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:104374821C>T	uc001pie.2	-	c.1048_splice	c.e6+1	p.H350_splice	CASP5_uc009yxh.1_Splice_Site_SNP_p.H148_splice	NM_004347	NP_004338			caspase 5 isoform a precursor						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)												0.2	98.869902	120.228637	51	204	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	Splice_Site_SNP	SNP	104374821	104374821	2793	11	C	T	T	19	19	CASP5	T	5	1
CASP1	834	broad.mit.edu	36	11	104402882	104402882	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:104402882A>G	uc001pif.1	-	c.1013T>C	c.(1012-1014)GTT>GCT	p.V338A	CASP1_uc001pig.1_Missense_Mutation_p.V245A|CASP1_uc001pih.1_Missense_Mutation_p.V317A|CASP1_uc001pii.1_Missense_Mutation_p.V197A|CASP1_uc001pij.1_Missense_Mutation_p.V22A|CASP1_uc001pik.1_Missense_Mutation_p.V301A|CASP1_uc001pil.1_Missense_Mutation_p.V245A|CASP1_uc001pim.2_Missense_Mutation_p.V338A|CASP1_uc009yxi.1_Missense_Mutation_p.V317A|CASP1_uc001pin.1_Missense_Mutation_p.V338A|CASP1_uc009yxj.1_Missense_Mutation_p.V183A	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	338					apoptosis|cellular response to mechanical stimulus|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)			Minocycline(DB01017)|Penicillamine(DB00859)	NSCLC(41;1246 1743 4934)				268				0.463855	257.455382	257.644112	77	89	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Missense_Mutation	SNP	104402882	104402882	2787	11	A	G	G	2	2	CASP1	G	4	4
CASP1	834	broad.mit.edu	36	11	104405133	104405133	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:104405133C>A	uc001pif.1	-	c.934G>T	c.(934-936)GAG>TAG	p.E312*	CASP1_uc001pig.1_Nonsense_Mutation_p.E219*|CASP1_uc001pih.1_Nonsense_Mutation_p.E291*|CASP1_uc001pii.1_Intron|CASP1_uc001pij.1_Intron|CASP1_uc001pik.1_Nonsense_Mutation_p.E275*|CASP1_uc001pil.1_Nonsense_Mutation_p.E219*|CASP1_uc001pim.2_Nonsense_Mutation_p.E312*|CASP1_uc009yxi.1_Nonsense_Mutation_p.E291*|CASP1_uc001pin.1_Nonsense_Mutation_p.E312*|CASP1_uc009yxj.1_Nonsense_Mutation_p.E157*	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	312					apoptosis|cellular response to mechanical stimulus|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)			Minocycline(DB01017)|Penicillamine(DB00859)	NSCLC(41;1246 1743 4934)				268				0.273333	93.496623	100.451284	41	109	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Nonsense_Mutation	SNP	104405133	104405133	2787	11	C	A	A	32	32	CASP1	A	5	3
CASP1	834	broad.mit.edu	36	11	104410169	104410169	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:104410169C>T	uc001pif.1	-	c.250G>A	c.(250-252)GCA>ACA	p.A84T	CASP1_uc001pig.1_Intron|CASP1_uc001pih.1_Missense_Mutation_p.A84T|CASP1_uc001pii.1_Intron|CASP1_uc001pij.1_Intron|CASP1_uc001pik.1_Missense_Mutation_p.A68T|CASP1_uc001pil.1_Intron|CASP1_uc001pim.2_Missense_Mutation_p.A84T|CASP1_uc009yxi.1_Missense_Mutation_p.A84T|CASP1_uc001pin.1_Missense_Mutation_p.A84T|CASP1_uc009yxj.1_5'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	84	CARD.				apoptosis|cellular response to mechanical stimulus|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)			Minocycline(DB01017)|Penicillamine(DB00859)	NSCLC(41;1246 1743 4934)				268				0.480663	498.109205	498.227777	174	188	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Missense_Mutation	SNP	104410169	104410169	2787	11	C	T	T	26	26	CASP1	T	2	2
AMPD3	272	broad.mit.edu	36	11	10465375	10465375	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:10465375G>A	uc001min.1	+	c.854G>A	c.(853-855)CGG>CAG	p.R285Q	AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.R276Q|AMPD3_uc001mip.1_Missense_Mutation_p.R283Q|AMPD3_uc009yfy.1_Missense_Mutation_p.R276Q	NM_000480	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1A	276					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2														0.23219	208.610335	233.502871	88	291	GG		KEEP	---	---	---	---	capture		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	Missense_Mutation	SNP	10465375	10465375	590	11	G	A	A	39	39	AMPD3	A	1	1
GRIA4	2893	broad.mit.edu	36	11	105274310	105274310	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:105274310C>T	uc001pix.2	+	c.832C>T	c.(832-834)CGC>TGC	p.R278C	GRIA4_uc001piu.1_Missense_Mutation_p.R278C|GRIA4_uc001piw.2_Missense_Mutation_p.R278C|GRIA4_uc009yxk.1_Missense_Mutation_p.R278C	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	278	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)			L-Glutamic Acid(DB00142)									0.180556	48.468881	62.281739	26	118	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	Missense_Mutation	SNP	105274310	105274310	7048	11	C	T	T	31	31	GRIA4	T	1	1
GRIA4	2893	broad.mit.edu	36	11	105286444	105286444	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:105286444C>T	uc001pix.2	+	c.1232C>T	c.(1231-1233)GCT>GTT	p.A411V	GRIA4_uc001piu.1_Missense_Mutation_p.A411V|GRIA4_uc001piw.2_Missense_Mutation_p.A411V|GRIA4_uc009yxk.1_Missense_Mutation_p.A411V	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	411	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)			L-Glutamic Acid(DB00142)									0.307018	97.980947	101.76702	35	79	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	Missense_Mutation	SNP	105286444	105286444	7048	11	C	T	T	28	28	GRIA4	T	2	2
KBTBD3	143879	broad.mit.edu	36	11	105429652	105429652	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:105429652G>A	uc001pja.1	-	c.974C>T	c.(973-975)CCG>CTG	p.P325L	KBTBD3_uc001pjb.1_Missense_Mutation_p.P325L|KBTBD3_uc009yxm.1_Missense_Mutation_p.P246L	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	321	Kelch 1.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)												0.187215	88.04837	108.112976	41	178	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	Missense_Mutation	SNP	105429652	105429652	8299	11	G	A	A	39	39	KBTBD3	A	1	1
KBTBD3	143879	broad.mit.edu	36	11	105435006	105435006	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:105435006G>T	uc001pja.1	-	c.29C>A	c.(28-30)GCT>GAT	p.A10D	KBTBD3_uc001pjb.1_Missense_Mutation_p.A10D|KBTBD3_uc009yxm.1_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	6										ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)												0.211864	53.606215	62.667532	25	93	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	Missense_Mutation	SNP	105435006	105435006	8299	11	G	T	T	34	34	KBTBD3	T	3	3
AASDHPPT	60496	broad.mit.edu	36	11	105467267	105467267	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:105467267C>T	uc001pjc.1	+	c.546C>T	c.(544-546)AGC>AGT	p.S182S	AASDHPPT_uc001pjd.1_Silent_p.S35S	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde	182	Coenzyme A binding.				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)												0.188889	101.268598	125.723184	51	219	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	Silent	SNP	105467267	105467267	24	11	C	T	T	28	28	AASDHPPT	T	2	2
MRVI1	10335	broad.mit.edu	36	11	10572315	10572315	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:10572315T>C	uc001miw.2	-	c.1994A>G	c.(1993-1995)GAT>GGT	p.D665G	MRVI1_uc009ygb.1_Missense_Mutation_p.D359G|MRVI1_uc001mix.2_Missense_Mutation_p.D359G|MRVI1_uc001miz.2_Missense_Mutation_p.D583G|MRVI1_uc009ygc.1_Missense_Mutation_p.D583G|MRVI1_uc009ygd.1_Missense_Mutation_p.D359G	NM_001098579	NP_001092049	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform a	647					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3														0.405405	50.221105	50.50956	15	22	TT		KEEP	---	---	---	---	capture		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	Missense_Mutation	SNP	10572315	10572315	10246	11	T	C	C	50	50	MRVI1	C	4	4
MRVI1	10335	broad.mit.edu	36	11	10604265	10604265	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:10604265C>T	uc001miw.2	-	c.1165G>A	c.(1165-1167)GGC>AGC	p.G389S	MRVI1_uc009ygb.1_Missense_Mutation_p.G83S|MRVI1_uc001mix.2_Missense_Mutation_p.G83S|MRVI1_uc001miz.2_Missense_Mutation_p.G307S|MRVI1_uc009ygc.1_Missense_Mutation_p.G307S|MRVI1_uc009ygd.1_Missense_Mutation_p.G83S	NM_001098579	NP_001092049	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform a	371					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3														0.3125	25.035792	26.038781	10	22	CC		KEEP	---	---	---	---	capture		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	Missense_Mutation	SNP	10604265	10604265	10246	11	C	T	T	21	21	MRVI1	T	2	2
MRVI1	10335	broad.mit.edu	36	11	10604396	10604396	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:10604396C>T	uc001miw.2	-	c.1034G>A	c.(1033-1035)GGA>GAA	p.G345E	MRVI1_uc009ygb.1_Missense_Mutation_p.G39E|MRVI1_uc001mix.2_Missense_Mutation_p.G39E|MRVI1_uc001miz.2_Missense_Mutation_p.G263E|MRVI1_uc009ygc.1_Missense_Mutation_p.G263E|MRVI1_uc009ygd.1_Missense_Mutation_p.G39E	NM_001098579	NP_001092049	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform a	327					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3														0.193548	11.133516	13.850299	6	25	CC		KEEP	---	---	---	---	capture		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	Missense_Mutation	SNP	10604396	10604396	10246	11	C	T	T	30	30	MRVI1	T	2	2
MRVI1	10335	broad.mit.edu	36	11	10607749	10607749	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:10607749C>T	uc001miw.2	-	c.459G>A	c.(457-459)GCG>GCA	p.A153A	MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Silent_p.A71A|MRVI1_uc009ygc.1_Silent_p.A71A|MRVI1_uc009ygd.1_5'UTR	NM_001098579	NP_001092049	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform a	153	Interaction with PRKG1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		p.A153A(1)		ovary(2)|central_nervous_system(1)	3														0.178082	22.932746	30.055818	13	60	CC		KEEP	---	---	---	---	capture		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	Silent	SNP	10607749	10607749	10246	11	C	T	T	27	27	MRVI1	T	1	1
GUCY1A2	2977	broad.mit.edu	36	11	106186168	106186168	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:106186168C>A	uc009yxn.1	-	c.1453G>T	c.(1453-1455)GAA>TAA	p.E485*	GUCY1A2_uc001pjg.1_Nonsense_Mutation_p.E485*	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	485					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|pancreas(2)|ovary(1)	6		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)								248				0.244635	122.640945	136.500361	57	176	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Nonsense_Mutation	SNP	106186168	106186168	7173	11	C	A	A	32	32	GUCY1A2	A	5	3
ELMOD1	55531	broad.mit.edu	36	11	107031959	107031959	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107031959C>T	uc001pjn.1	+	c.789C>T	c.(787-789)ATC>ATT	p.I263I	ELMOD1_uc001pjm.1_Silent_p.I255I	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	263	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)												0.5	22.999173	22.999173	8	8	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	Silent	SNP	107031959	107031959	5260	11	C	T	T	31	31	ELMOD1	T	1	1
MUC2	4583	broad.mit.edu	36	11	1070487	1070487	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1070487G>A	uc001lsx.1	+	c.1129G>A	c.(1129-1131)GCT>ACT	p.A377T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	377						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)			Pranlukast(DB01411)									0.294118	11.068414	11.713435	5	12	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1070487	1070487	10369	11	G	A	A	38	38	MUC2	A	1	1
SLN	6588	broad.mit.edu	36	11	107083846	107083846	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107083846C>T	uc001pjp.1	-	c.21G>A	c.(19-21)GAG>GAA	p.E7E	SLN_uc009yxq.1_Silent_p.E7E	NM_003063	NP_003054	O00631	SARCO_HUMAN	sarcolipin	7					calcium ion transport|regulation of calcium ion transport	integral to membrane|sarcoplasmic reticulum membrane	enzyme regulator activity				0		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)												0.15625	52.114373	73.785086	30	162	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)	Silent	SNP	107083846	107083846	15250	11	C	T	T	28	28	SLN	T	2	2
CTR9	9646	broad.mit.edu	36	11	10738361	10738361	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:10738361G>A	uc001mja.1	+	c.658G>A	c.(658-660)GCA>ACA	p.A220T		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	220	TPR 4.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2														0.233202	130.484556	146.981496	59	194	GG		KEEP	---	---	---	---	capture		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	Missense_Mutation	SNP	10738361	10738361	4183	11	G	A	A	42	42	CTR9	A	2	2
CUL5	8065	broad.mit.edu	36	11	107425996	107425996	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107425996T>C	uc001pjv.1	+	c.404T>C	c.(403-405)GTT>GCT	p.V135A	CUL5_uc001pju.2_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	135					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)												0.241379	123.668588	134.279684	42	132	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	Missense_Mutation	SNP	107425996	107425996	4219	11	T	C	C	60	60	CUL5	C	4	4
CUL5	8065	broad.mit.edu	36	11	107430611	107430611	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107430611A>C	uc001pjv.1	+	c.581A>C	c.(580-582)AAA>ACA	p.K194T	CUL5_uc001pju.2_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	194					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)												0.396825	163.727743	164.900294	50	76	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	Missense_Mutation	SNP	107430611	107430611	4219	11	A	C	C	1	1	CUL5	C	4	4
CUL5	8065	broad.mit.edu	36	11	107474422	107474422	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107474422G>T	uc001pjv.1	+	c.2104G>T	c.(2104-2106)GAA>TAA	p.E702*	CUL5_uc001pju.2_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	702					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)												0.192593	47.060095	58.985711	26	109	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	Nonsense_Mutation	SNP	107474422	107474422	4219	11	G	T	T	33	33	CUL5	T	5	3
MUC2	4583	broad.mit.edu	36	11	1074834	1074834	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1074834G>A	uc001lsx.1	+	c.2629G>A	c.(2629-2631)GAC>AAC	p.D877N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	877	VWFD 3.					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)			Pranlukast(DB01411)									0.5	36.473739	36.473739	13	13	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1074834	1074834	10369	11	G	A	A	37	37	MUC2	A	1	1
NPAT	4863	broad.mit.edu	36	11	107537887	107537887	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107537887G>A	uc001pjz.2	-	c.3136C>T	c.(3136-3138)CCC>TCC	p.P1046S		NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1046	Required for acceleration of G1 phase.				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 activator 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)								345				0.423529	303.334512	304.63928	108	147	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	Missense_Mutation	SNP	107537887	107537887	10970	11	G	A	A	41	41	NPAT	A	2	2
NPAT	4863	broad.mit.edu	36	11	107548710	107548710	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107548710G>A	uc001pjz.2	-	c.2211C>T	c.(2209-2211)ATC>ATT	p.I737I	NPAT_uc001pka.2_Silent_p.I532I	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	737					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 activator 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)							p.I737I(JK1-Tumor)|p.I737I(KYSE410-Tumor)	345				0.232143	115.178124	129.9051	52	172	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	Silent	SNP	107548710	107548710	10970	11	G	A	A	37	37	NPAT	A	1	1
NPAT	4863	broad.mit.edu	36	11	107549584	107549584	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107549584G>A	uc001pjz.2	-	c.1337C>T	c.(1336-1338)TCC>TTC	p.S446F	NPAT_uc001pka.2_Missense_Mutation_p.S241F	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	446					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 activator 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)								345				0.46747	571.598019	571.981716	194	221	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	Missense_Mutation	SNP	107549584	107549584	10970	11	G	A	A	41	41	NPAT	A	2	2
NPAT	4863	broad.mit.edu	36	11	107552203	107552203	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107552203G>T	uc001pjz.2	-	c.1112C>A	c.(1111-1113)TCT>TAT	p.S371Y	NPAT_uc001pka.2_Missense_Mutation_p.S166Y	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	371					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 activator 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)								345				0.416667	106.874005	107.457949	40	56	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	Missense_Mutation	SNP	107552203	107552203	10970	11	G	T	T	33	33	NPAT	T	3	3
ATM	472	broad.mit.edu	36	11	107626877	107626877	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107626877T>G	uc001pkb.1	+	c.1475T>G	c.(1474-1476)TTT>TGT	p.F492C	ATM_uc009yxr.1_Missense_Mutation_p.F492C	NM_000051	NP_612149	Q13315	ATM_HUMAN	ataxia telangiectasia mutated protein isoform 1	492					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(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		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)								1073	TSP Lung(14;0.12)			0.387833	336.109059	339.002029	102	161	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107626877	107626877	1128	11	T	G	G	64	64	ATM	G	4	4
ATM	472	broad.mit.edu	36	11	107644458	107644458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107644458C>T	uc001pkb.1	+	c.2750C>T	c.(2749-2751)TCC>TTC	p.S917F	ATM_uc009yxr.1_Missense_Mutation_p.S917F|ATM_uc009yxs.1_Non-coding_Transcript	NM_000051	NP_612149	Q13315	ATM_HUMAN	ataxia telangiectasia mutated protein isoform 1	917					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(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		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)								1073	TSP Lung(14;0.12)			0.464646	539.441723	539.874277	184	212	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107644458	107644458	1128	11	C	T	T	30	30	ATM	T	2	2
ATM	472	broad.mit.edu	36	11	107664952	107664952	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107664952C>T	uc001pkb.1	+	c.4148C>T	c.(4147-4149)TCG>TTG	p.S1383L	ATM_uc009yxr.1_Missense_Mutation_p.S1383L|ATM_uc001pke.1_Missense_Mutation_p.S35L|ATM_uc001pkd.2_Missense_Mutation_p.S35L|ATM_uc001pkf.2_Missense_Mutation_p.S35L	NM_000051	NP_612149	Q13315	ATM_HUMAN	ataxia telangiectasia mutated protein isoform 1	1383					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(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		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)							p.S1383L(OUMS23-Tumor)|p.S1383L(KE37-Tumor)	1073	TSP Lung(14;0.12)			0.390909	235.29191	237.58741	86	134	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107664952	107664952	1128	11	C	T	T	31	31	ATM	T	1	1
ATM	472	broad.mit.edu	36	11	107668719	107668719	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107668719G>A	uc001pkb.1	+	c.4600G>A	c.(4600-4602)GTT>ATT	p.V1534I	ATM_uc009yxr.1_Missense_Mutation_p.V1534I|ATM_uc001pke.1_Missense_Mutation_p.V186I|ATM_uc001pkf.2_Intron	NM_000051	NP_612149	Q13315	ATM_HUMAN	ataxia telangiectasia mutated protein isoform 1	1534					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(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		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)								1073	TSP Lung(14;0.12)			0.19403	123.201789	152.456404	65	270	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107668719	107668719	1128	11	G	A	A	44	44	ATM	A	2	2
C11orf65	160140	broad.mit.edu	36	11	107758980	107758980	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107758980G>T	uc001pkh.1	-	c.920C>A	c.(919-921)CCT>CAT	p.P307H	C11orf65_uc009yxu.1_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	hypothetical protein LOC160140	307										ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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)								1				0.357513	182.605464	186.063246	69	124	GG		KEEP	---	---	---	---	capture		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	Missense_Mutation	SNP	107758980	107758980	1694	11	G	T	T	35	35	C11orf65	T	3	3
C11orf65	160140	broad.mit.edu	36	11	107759050	107759050	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107759050G>A	uc001pkh.1	-	c.850C>T	c.(850-852)CAA>TAA	p.Q284*	C11orf65_uc009yxu.1_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	hypothetical protein LOC160140	284										ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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)								1				0.368984	177.407501	180.235632	69	118	GG		KEEP	---	---	---	---	capture		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	Nonsense_Mutation	SNP	107759050	107759050	1694	11	G	A	A	46	46	C11orf65	A	5	2
EIF4G2	1982	broad.mit.edu	36	11	10778640	10778640	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:10778640C>A	uc001mjc.1	-	c.1775G>T	c.(1774-1776)AGA>ATA	p.R592I	EIF4G2_uc001mjb.1_Missense_Mutation_p.R386I|EIF4G2_uc001mjd.1_Missense_Mutation_p.R554I	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	592	MI.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2														0.209503	188.079834	224.285908	97	366	CC		KEEP	---	---	---	---	capture		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	Missense_Mutation	SNP	10778640	10778640	5228	11	C	A	A	32	32	EIF4G2	A	3	3
EIF4G2	1982	broad.mit.edu	36	11	10781348	10781348	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:10781348G>A	uc001mjc.1	-	c.883C>T	c.(883-885)CGT>TGT	p.R295C	EIF4G2_uc001mjb.1_Missense_Mutation_p.R89C|EIF4G2_uc001mjd.1_Missense_Mutation_p.R295C|EIF4G2_uc001mjf.1_Missense_Mutation_p.R89C|SNORD97_uc009yge.1_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	295	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2														0.380952	87.577254	88.622203	32	52	GG		KEEP	---	---	---	---	capture		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	Missense_Mutation	SNP	10781348	10781348	5228	11	G	A	A	37	37	EIF4G2	A	1	1
KDELC2	143888	broad.mit.edu	36	11	107857171	107857171	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107857171C>A	uc001pkj.2	-	c.1044G>T	c.(1042-1044)GAG>GAT	p.E348D	KDELC2_uc001pki.2_Missense_Mutation_p.E292D	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	348						endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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)												0.195349	152.041908	189.406617	84	346	CC		KEEP	---	---	---	---	capture		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	Missense_Mutation	SNP	107857171	107857171	8424	11	C	A	A	32	32	KDELC2	A	3	3
EXPH5	23086	broad.mit.edu	36	11	107886302	107886302	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107886302C>T	uc001pkk.1	-	c.5142G>A	c.(5140-5142)GAG>GAA	p.E1714E		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1714					intracellular protein transport		Rab GTPase binding			ovary(2)	2		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)												0.198966	160.239208	192.890621	77	310	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	107886302	107886302	5516	11	C	T	T	32	32	EXPH5	T	2	2
EXPH5	23086	broad.mit.edu	36	11	107886436	107886436	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107886436C>T	uc001pkk.1	-	c.5008G>A	c.(5008-5010)GAG>AAG	p.E1670K		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1670					intracellular protein transport		Rab GTPase binding			ovary(2)	2		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)												0.224018	204.492961	234.87694	97	336	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107886436	107886436	5516	11	C	T	T	31	31	EXPH5	T	1	1
EXPH5	23086	broad.mit.edu	36	11	107886620	107886620	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107886620T>A	uc001pkk.1	-	c.4824A>T	c.(4822-4824)AAA>AAT	p.K1608N		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1608					intracellular protein transport		Rab GTPase binding			ovary(2)	2		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)												0.216783	128.286548	149.456163	62	224	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107886620	107886620	5516	11	T	A	A	56	56	EXPH5	A	4	4
EXPH5	23086	broad.mit.edu	36	11	107887202	107887202	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107887202T>C	uc001pkk.1	-	c.4242A>G	c.(4240-4242)CAA>CAG	p.Q1414Q		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1414					intracellular protein transport		Rab GTPase binding			ovary(2)	2		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)												0.185759	152.921192	182.802177	60	263	TT		KEEP	---	---	---	---	capture		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)	Silent	SNP	107887202	107887202	5516	11	T	C	C	60	60	EXPH5	C	4	4
EXPH5	23086	broad.mit.edu	36	11	107887570	107887570	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107887570C>T	uc001pkk.1	-	c.3874G>A	c.(3874-3876)GCT>ACT	p.A1292T		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1292					intracellular protein transport		Rab GTPase binding			ovary(2)	2		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)												0.403315	198.230986	199.711908	73	108	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107887570	107887570	5516	11	C	T	T	27	27	EXPH5	T	1	1
EXPH5	23086	broad.mit.edu	36	11	107888151	107888151	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107888151C>A	uc001pkk.1	-	c.3293G>T	c.(3292-3294)AGA>ATA	p.R1098I		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1098					intracellular protein transport		Rab GTPase binding			ovary(2)	2		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)												0.220588	118.755072	138.313086	60	212	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107888151	107888151	5516	11	C	A	A	32	32	EXPH5	A	3	3
EXPH5	23086	broad.mit.edu	36	11	107889085	107889085	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107889085C>T	uc001pkk.1	-	c.2359G>A	c.(2359-2361)GAT>AAT	p.D787N		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	787					intracellular protein transport		Rab GTPase binding			ovary(2)	2		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)												0.207675	202.447263	237.529739	92	351	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107889085	107889085	5516	11	C	T	T	32	32	EXPH5	T	2	2
EXPH5	23086	broad.mit.edu	36	11	107890017	107890017	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107890017C>A	uc001pkk.1	-	c.1427G>T	c.(1426-1428)GGA>GTA	p.G476V		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	476					intracellular protein transport		Rab GTPase binding			ovary(2)	2		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)												0.220588	120.181529	139.721097	60	212	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107890017	107890017	5516	11	C	A	A	30	30	EXPH5	A	3	3
EXPH5	23086	broad.mit.edu	36	11	107915088	107915088	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107915088C>T	uc001pkk.1	-	c.316G>A	c.(316-318)GTA>ATA	p.V106I		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	106					intracellular protein transport		Rab GTPase binding			ovary(2)	2		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)												0.414634	269.580022	271.15097	102	144	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	107915088	107915088	5516	11	C	T	T	17	17	EXPH5	T	2	2
DDX10	1662	broad.mit.edu	36	11	108041140	108041140	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:108041140T>C	uc001pkm.1	+	c.50T>C	c.(49-51)GTG>GCG	p.V17A	DDX10_uc001pkl.1_Missense_Mutation_p.V17A	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	17							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)	2		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)								268				0.43662	93.783686	94.036417	31	40	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	Missense_Mutation	SNP	108041140	108041140	4513	11	T	C	C	59	59	DDX10	C	4	4
DDX10	1662	broad.mit.edu	36	11	108067963	108067963	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:108067963G>A	uc001pkm.1	+	c.1126G>A	c.(1126-1128)GCC>ACC	p.A376T	DDX10_uc001pkl.1_Missense_Mutation_p.A376T	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	376	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)	2		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)								268				0.244019	116.110698	128.600269	51	158	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	Missense_Mutation	SNP	108067963	108067963	4513	11	G	A	A	34	34	DDX10	A	2	2
MUC2	4583	broad.mit.edu	36	11	1080811	1080811	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1080811G>A	uc001lsx.1	+	c.3706G>A	c.(3706-3708)GCC>ACC	p.A1236T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1236						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)			Pranlukast(DB01411)									0.437956	165.198543	165.653377	60	77	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1080811	1080811	10369	11	G	A	A	38	38	MUC2	A	1	1
MUC2	4583	broad.mit.edu	36	11	1082286	1082286	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1082286G>T	uc001lsx.1	+	c.4105G>T	c.(4105-4107)GAC>TAC	p.D1369Y		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1369						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)			Pranlukast(DB01411)									0.2	14.574735	17.926394	8	32	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1082286	1082286	10369	11	G	T	T	33	33	MUC2	T	3	3
MUC2	4583	broad.mit.edu	36	11	1084803	1084803	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1084803G>T	uc001lsx.1	+	c.12977G>T	c.(12976-12978)AGG>ATG	p.R4326M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4326						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)			Pranlukast(DB01411)									0.348442	310.487785	317.657074	123	230	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1084803	1084803	10369	11	G	T	T	35	35	MUC2	T	3	3
MUC2	4583	broad.mit.edu	36	11	1086519	1086519	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1086519G>A	uc001lsx.1	+	c.13630G>A	c.(13630-13632)GAG>AAG	p.E4544K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4544	VWFD 4.					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)			Pranlukast(DB01411)									0.216981	49.064751	56.898245	23	83	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1086519	1086519	10369	11	G	A	A	37	37	MUC2	A	1	1
MUC2	4583	broad.mit.edu	36	11	1089487	1089487	+	Missense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1089487C>G	uc001lsx.1	+	c.14414C>G	c.(14413-14415)GCT>GGT	p.A4805G		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4805						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)			Pranlukast(DB01411)									0.384615	14.572248	14.723845	5	8	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1089487	1089487	10369	11	C	G	G	28	28	MUC2	G	3	3
MUC2	4583	broad.mit.edu	36	11	1093223	1093223	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1093223G>A	uc001lsx.1	+	c.15059G>A	c.(15058-15060)TGC>TAC	p.C5020Y		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	5020						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)			Pranlukast(DB01411)									0.403846	161.798655	163.055923	63	93	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1093223	1093223	10369	11	G	A	A	46	46	MUC2	A	2	2
ARHGAP20	57569	broad.mit.edu	36	11	109955542	109955542	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:109955542G>T	uc001pkz.1	-	c.3338C>A	c.(3337-3339)TCT>TAT	p.S1113Y	ARHGAP20_uc001pky.1_Missense_Mutation_p.S1090Y|ARHGAP20_uc009yyb.1_Missense_Mutation_p.S1077Y|ARHGAP20_uc001pla.1_Missense_Mutation_p.S1077Y|ARHGAP20_uc001plb.2_Missense_Mutation_p.S656Y	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1113					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)												0.212644	69.43296	82.772605	37	137	GG		KEEP	---	---	---	---	capture		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	Missense_Mutation	SNP	109955542	109955542	881	11	G	T	T	33	33	ARHGAP20	T	3	3
ARHGAP20	57569	broad.mit.edu	36	11	109956756	109956756	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:109956756G>A	uc001pkz.1	-	c.2124C>T	c.(2122-2124)ATC>ATT	p.I708I	ARHGAP20_uc001pky.1_Silent_p.I685I|ARHGAP20_uc009yyb.1_Silent_p.I672I|ARHGAP20_uc001pla.1_Silent_p.I672I|ARHGAP20_uc001plb.2_Silent_p.I251I	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	708					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)												0.472	334.087949	334.261083	118	132	GG		KEEP	---	---	---	---	capture		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	Silent	SNP	109956756	109956756	881	11	G	A	A	37	37	ARHGAP20	A	1	1
POU2AF1	5450	broad.mit.edu	36	11	110730453	110730453	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:110730453C>T	uc001plg.2	-	c.514G>A	c.(514-516)GCA>ACA	p.A172T		NM_006235	NP_006226	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	172					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			kidney(1)	1		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)								95				0.55	66.451219	66.53801	22	18	CC		KEEP	---	---	---	---	capture		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	Missense_Mutation	SNP	110730453	110730453	12700	11	C	T	T	26	26	POU2AF1	T	2	2
BTG4	54766	broad.mit.edu	36	11	110874627	110874627	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:110874627C>A	uc001plj.1	-	c.85G>T	c.(85-87)GAC>TAC	p.D29Y	BTG4_uc001plk.1_Missense_Mutation_p.D29Y	NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	29					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation						0		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)												0.283465	82.756239	88.099568	36	91	CC		KEEP	---	---	---	---	capture		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)	Missense_Mutation	SNP	110874627	110874627	1590	11	C	A	A	32	32	BTG4	A	3	3
PPP2R1B	5519	broad.mit.edu	36	11	111118467	111118467	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:111118467G>T	uc001plw.1	-	c.1687C>A	c.(1687-1689)CTA>ATA	p.L563I	PPP2R1B_uc001plx.1_Missense_Mutation_p.L563I	NM_181699	NP_859050	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	563	HEAT 14.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)												0.383459	134.282	135.869605	51	82	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	Missense_Mutation	SNP	111118467	111118467	12819	11	G	T	T	33	33	PPP2R1B	T	3	3
FDXACB1	91893	broad.mit.edu	36	11	111252506	111252506	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:111252506C>T	uc001pmc.2	-	c.601G>A	c.(601-603)GAA>AAA	p.E201K	FDXACB1_uc009yyi.1_Missense_Mutation_p.E52K|C11orf1_uc001pmd.1_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	201					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0														0.41573	203.805655	204.912095	74	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111252506	111252506	6043	11	C	T	T	29	29	FDXACB1	T	2	2
CRYAB	1410	broad.mit.edu	36	11	111284757	111284757	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:111284757G>A	uc001pmf.1	-	c.469C>T	c.(469-471)CGC>TGC	p.R157C		NM_001885	NP_001876	P02511	CRYAB_HUMAN	crystallin, alpha B	157					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding				0		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)												0.239316	120.818273	135.316664	56	178	GG		KEEP	---	---	---	---	capture		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	Missense_Mutation	SNP	111284757	111284757	4045	11	G	A	A	38	38	CRYAB	A	1	1
DLAT	1737	broad.mit.edu	36	11	111413323	111413323	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:111413323G>A	uc001pmo.2	+	c.904G>A	c.(904-906)GCA>ACA	p.A302T	DLAT_uc009yyk.1_Intron	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	302					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)			NADH(DB00157)									0.482993	209.408825	209.446151	71	76	GG		KEEP	---	---	---	---	capture		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	Missense_Mutation	SNP	111413323	111413323	4729	11	G	A	A	34	34	DLAT	A	2	2
PIH1D2	120379	broad.mit.edu	36	11	111446443	111446443	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:111446443G>T	uc001pmq.2	-	c.740C>A	c.(739-741)CCT>CAT	p.P247H	PIH1D2_uc009yyl.1_Missense_Mutation_p.P247H|PIH1D2_uc001pmp.2_Missense_Mutation_p.P247H	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2 isoform 1	247										ovary(1)	1		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)												0.435435	393.489722	394.705694	145	188	GG		KEEP	---	---	---	---	capture		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	Missense_Mutation	SNP	111446443	111446443	12331	11	G	T	T	35	35	PIH1D2	T	3	3
BCO2	83875	broad.mit.edu	36	11	111569481	111569481	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:111569481G>A	uc001pnf.1	+	c.368G>A	c.(367-369)AGC>AAC	p.S123N	BCO2_uc001pne.1_5'UTR|BCO2_uc001png.1_Missense_Mutation_p.S123N|BCO2_uc001pnh.1_Missense_Mutation_p.S89N|BCO2_uc009yyn.1_Missense_Mutation_p.S89N|BCO2_uc001pni.2_Missense_Mutation_p.S89N	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	123					carotene metabolic process|oxidation-reduction process|retinal metabolic process|retinoic acid metabolic process	intracellular	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GBM(177;1916 2099 21049 29541 39946)								0.153846	23.485835	33.91682	14	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111569481	111569481	1406	11	G	A	A	34	34	BCO2	A	2	2
NCAM1	4684	broad.mit.edu	36	11	112582027	112582027	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:112582027A>C	uc009yyq.1	+	c.189A>C	c.(187-189)AAA>AAC	p.K63N	NCAM1_uc001pno.2_Missense_Mutation_p.K63N	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	181	Ig-like C2-type 2.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)								700				0.431095	403.920847	405.089787	122	161	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	Missense_Mutation	SNP	112582027	112582027	10601	11	A	C	C	1	1	NCAM1	C	4	4
ANKK1	255239	broad.mit.edu	36	11	112769591	112769591	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:112769591C>T	uc001pny.1	+	c.364C>T	c.(364-366)CGC>TGC	p.R122C		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	122	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			lung(5)|ovary(1)|breast(1)	7		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)								305				0.472973	104.922713	104.969319	35	39	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	112769591	112769591	634	11	C	T	T	23	23	ANKK1	T	1	1
ANKK1	255239	broad.mit.edu	36	11	112770917	112770917	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:112770917C>T	uc001pny.1	+	c.537C>T	c.(535-537)ATC>ATT	p.I179I		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	179	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			lung(5)|ovary(1)|breast(1)	7		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)								305				0.407407	58.836484	59.241637	22	32	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	112770917	112770917	634	11	C	T	T	31	31	ANKK1	T	1	1
ANKK1	255239	broad.mit.edu	36	11	112775492	112775492	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:112775492C>A	uc001pny.1	+	c.1591C>A	c.(1591-1593)CTG>ATG	p.L531M		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	531	ANK 6.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			lung(5)|ovary(1)|breast(1)	7		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)								305				0.413793	34.79352	34.982022	12	17	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	112775492	112775492	634	11	C	A	A	20	20	ANKK1	A	3	3
DRD2	1813	broad.mit.edu	36	11	112788799	112788799	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:112788799G>A	uc001pnz.1	-	c.827C>T	c.(826-828)GCC>GTC	p.A276V	DRD2_uc001poa.2_Missense_Mutation_p.A276V|DRD2_uc001pob.2_Missense_Mutation_p.A247V	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	276	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|diuresis|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|natriuresis|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane|integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)	1		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)			Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)					215				0.408451	68.171308	68.68672	29	42	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Missense_Mutation	SNP	112788799	112788799	4941	11	G	A	A	42	42	DRD2	A	2	2
DRD2	1813	broad.mit.edu	36	11	112800365	112800365	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:112800365G>A	uc001pnz.1	-	c.219C>T	c.(217-219)ATC>ATT	p.I73I	DRD2_uc001poa.2_Silent_p.I73I|DRD2_uc001pob.2_Silent_p.I73I|DRD2_uc009yyr.1_Silent_p.I73I	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	73	Helical; Name=2; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|diuresis|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|natriuresis|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane|integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)	1		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)			Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)					215				0.276923	83.044685	88.868894	36	94	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Silent	SNP	112800365	112800365	4941	11	G	A	A	37	37	DRD2	A	1	1
ZW10	9183	broad.mit.edu	36	11	113119812	113119812	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:113119812C>T	uc001poe.1	-	c.1433G>A	c.(1432-1434)CGT>CAT	p.R478H	ZW10_uc009yyv.1_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	478					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)	1		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)												0.420139	325.962952	327.577471	121	167	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	Missense_Mutation	SNP	113119812	113119812	18852	11	C	T	T	19	19	ZW10	T	1	1
CLDN25	644672	broad.mit.edu	36	11	113156225	113156225	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:113156225C>T	uc009yyw.1	+	c.498C>T	c.(496-498)CTC>CTT	p.L166L		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin-like	166	Helical; (Potential).					integral to membrane|tight junction	structural molecule activity				0														0.231343	71.451184	80.316155	31	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	113156225	113156225	3622	11	C	T	T	32	32	CLDN25	T	2	2
USP28	57646	broad.mit.edu	36	11	113180654	113180654	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:113180654G>A	uc001poh.1	-	c.2609C>T	c.(2608-2610)GCG>GTG	p.A870V	USP28_uc001poi.1_Missense_Mutation_p.A193V|USP28_uc001pog.1_Missense_Mutation_p.A546V	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	870					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|ovary(1)|large_intestine(1)|kidney(1)	5		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)				Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)								0.441176	333.8465	334.668656	120	152	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	Missense_Mutation	SNP	113180654	113180654	17622	11	G	A	A	38	38	USP28	A	1	1
HTR3A	3359	broad.mit.edu	36	11	113361973	113361973	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:113361973C>T	uc001pon.1	+	c.571C>T	c.(571-573)CGC>TGC	p.R191C	HTR3A_uc001pom.1_Missense_Mutation_p.R191C|HTR3A_uc009yyx.1_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	191	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)			Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)									0.439441	782.936382	784.990758	283	361	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Missense_Mutation	SNP	113361973	113361973	7744	11	C	T	T	27	27	HTR3A	T	1	1
HTR3A	3359	broad.mit.edu	36	11	113362829	113362829	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:113362829T>C	uc001pon.1	+	c.1085T>C	c.(1084-1086)GTG>GCG	p.V362A	HTR3A_uc001pom.1_Missense_Mutation_p.V330A|HTR3A_uc009yyx.1_Non-coding_Transcript	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	330	Cytoplasmic (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)			Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)									0.265957	51.291288	55.983352	25	69	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Missense_Mutation	SNP	113362829	113362829	7744	11	T	C	C	59	59	HTR3A	C	4	4
HTR3A	3359	broad.mit.edu	36	11	113365499	113365499	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:113365499C>T	uc001pon.1	+	c.1337C>T	c.(1336-1338)GCG>GTG	p.A446V	HTR3A_uc001pom.1_Missense_Mutation_p.A414V|HTR3A_uc009yyx.1_Non-coding_Transcript	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	414	HA-stretch.|Cytoplasmic (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)			Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)									0.427451	282.857204	284.018652	109	146	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Missense_Mutation	SNP	113365499	113365499	7744	11	C	T	T	27	27	HTR3A	T	1	1
FAM55D	54827	broad.mit.edu	36	11	113958725	113958725	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:113958725C>T	uc001ppc.1	-	c.325G>A	c.(325-327)GAT>AAT	p.D109N	FAM55D_uc001ppd.1_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	109						extracellular region				ovary(2)	2		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)												0.432526	350.107293	351.258455	125	164	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	Missense_Mutation	SNP	113958725	113958725	5809	11	C	T	T	32	32	FAM55D	T	2	2
GALNTL4	374378	broad.mit.edu	36	11	11410744	11410744	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:11410744C>T	uc001mjo.1	-	c.595G>A	c.(595-597)GAG>AAG	p.E199K		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	199	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0														0.25	22.455903	24.502834	9	27	CC		KEEP	---	---	---	---	capture		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	Missense_Mutation	SNP	11410744	11410744	6487	11	C	T	T	23	23	GALNTL4	T	1	1
CADM1	23705	broad.mit.edu	36	11	114590658	114590658	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:114590658C>T	uc001ppj.2	-	c.874G>A	c.(874-876)GTA>ATA	p.V292I	CADM1_uc001ppf.2_Missense_Mutation_p.V292I|CADM1_uc001pph.2_Missense_Mutation_p.V44I|CADM1_uc001ppi.2_Missense_Mutation_p.V292I|CADM1_uc001ppk.2_Missense_Mutation_p.V292I|CADM1_uc001ppl.2_Missense_Mutation_p.V292I	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	292	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)												0.241096	190.607145	212.942321	88	277	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	Missense_Mutation	SNP	114590658	114590658	2682	11	C	T	T	19	19	CADM1	T	1	1
BUD13	84811	broad.mit.edu	36	11	116124483	116124483	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116124483C>A	uc001ppn.1	-	c.1785G>T	c.(1783-1785)CAG>CAT	p.Q595H	BUD13_uc001ppo.1_Missense_Mutation_p.Q461H	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog	595										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)												0.422078	172.715129	173.537703	65	89	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	Missense_Mutation	SNP	116124483	116124483	1607	11	C	A	A	32	32	BUD13	A	3	3
BUD13	84811	broad.mit.edu	36	11	116135078	116135078	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116135078T>A	uc001ppn.1	-	c.1282A>T	c.(1282-1284)ACT>TCT	p.T428S	BUD13_uc001ppo.1_Missense_Mutation_p.T294S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog	428										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)												0.489726	401.244132	401.272346	143	149	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	Missense_Mutation	SNP	116135078	116135078	1607	11	T	A	A	60	60	BUD13	A	4	4
SIK3	23387	broad.mit.edu	36	11	116233771	116233771	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116233771G>T	uc001ppy.1	-	c.3302C>A	c.(3301-3303)ACT>AAT	p.T1101N	SIK3_uc001ppz.1_Missense_Mutation_p.T940N|SIK3_uc001pqa.1_Missense_Mutation_p.T1041N|SIK3_uc001ppw.1_Missense_Mutation_p.T458N|SIK3_uc001ppx.1_Missense_Mutation_p.T479N|SIK3_uc001pqb.1_Missense_Mutation_p.T404N	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	KIAA0999 protein	1101					protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|breast(2)|lung(1)|kidney(1)|skin(1)	8										634				0.193939	62.292901	76.727037	32	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116233771	116233771	14814	11	G	T	T	36	36	SIK3	T	3	3
SIDT2	51092	broad.mit.edu	36	11	116560006	116560006	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116560006C>A	uc001pqg.1	+	c.809C>A	c.(808-810)CCG>CAG	p.P270Q	SIDT2_uc001pqh.1_Missense_Mutation_p.P270Q|SIDT2_uc001pqi.1_Missense_Mutation_p.P270Q	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	270	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.314607	70.06398	72.788013	28	61	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	Missense_Mutation	SNP	116560006	116560006	14798	11	C	A	A	23	23	SIDT2	A	3	3
TAGLN	6876	broad.mit.edu	36	11	116579070	116579070	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116579070G>A	uc001pqm.1	+	c.131G>A	c.(130-132)CGC>CAC	p.R44H	TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.1_Missense_Mutation_p.R44H|TAGLN_uc001pqo.1_Missense_Mutation_p.R44H|TAGLN_uc001pqp.1_Missense_Mutation_p.R44H	NM_003186	NP_003177	Q01995	TAGL_HUMAN	transgelin	44	CH.				muscle organ development	cytoplasm	actin binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.42029	75.956762	76.340155	29	40	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)	Missense_Mutation	SNP	116579070	116579070	16059	11	G	A	A	38	38	TAGLN	A	1	1
PCSK7	9159	broad.mit.edu	36	11	116584846	116584846	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116584846G>A	uc001pqr.1	-	c.1668C>T	c.(1666-1668)ATC>ATT	p.I556I	PCSK7_uc001pqs.1_5'Flank	NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	556	Homo B/P.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)							p.I556I(NCIH1975-Tumor)|p.I556I(RL952-Tumor)	435				0.127273	7.789803	15.240364	7	48	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	Silent	SNP	116584846	116584846	12026	11	G	A	A	37	37	PCSK7	A	1	1
RNF214	257160	broad.mit.edu	36	11	116614865	116614865	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116614865G>A	uc001pqt.1	+	c.446G>A	c.(445-447)TGC>TAC	p.C149Y	RNF214_uc001pqu.1_Missense_Mutation_p.C149Y	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	149							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.216216	47.227467	55.488857	24	87	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	Missense_Mutation	SNP	116614865	116614865	13956	11	G	A	A	46	46	RNF214	A	2	2
RNF214	257160	broad.mit.edu	36	11	116658162	116658162	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116658162G>A	uc001pqt.1	+	c.1678G>A	c.(1678-1680)GAG>AAG	p.E560K	RNF214_uc001pqu.1_Missense_Mutation_p.E560K	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	560							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.19656	160.029225	195.009541	80	327	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	Missense_Mutation	SNP	116658162	116658162	13956	11	G	A	A	41	41	RNF214	A	2	2
RNF214	257160	broad.mit.edu	36	11	116658771	116658771	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116658771T>G	uc001pqt.1	+	c.1945T>G	c.(1945-1947)TCA>GCA	p.S649A	RNF214_uc001pqu.1_Missense_Mutation_p.S649A	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	649							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.188034	53.08533	63.740003	22	95	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	Missense_Mutation	SNP	116658771	116658771	13956	11	T	G	G	62	62	RNF214	G	4	4
CEP164	22897	broad.mit.edu	36	11	116747264	116747264	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116747264G>A	uc001prc.1	+	c.1024G>A	c.(1024-1026)GCC>ACC	p.A342T	CEP164_uc001prb.1_Missense_Mutation_p.A342T|CEP164_uc001prf.1_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	342					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.206897	138.350389	163.776385	66	253	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	Missense_Mutation	SNP	116747264	116747264	3382	11	G	A	A	34	34	CEP164	A	2	2
CEP164	22897	broad.mit.edu	36	11	116788087	116788087	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116788087G>A	uc001prc.1	+	c.4376G>A	c.(4375-4377)CGC>CAC	p.R1459H	CEP164_uc001prb.1_Missense_Mutation_p.R1454H|CEP164_uc001prf.1_Non-coding_Transcript	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1459					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.181034	32.006158	43.11116	21	95	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	Missense_Mutation	SNP	116788087	116788087	3382	11	G	A	A	38	38	CEP164	A	1	1
DSCAML1	57453	broad.mit.edu	36	11	116811717	116811717	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116811717G>A	uc001prh.1	-	c.4909C>T	c.(4909-4911)CCA>TCA	p.P1637S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1577	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)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)												0.38764	187.012519	188.988054	69	109	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	Missense_Mutation	SNP	116811717	116811717	4953	11	G	A	A	41	41	DSCAML1	A	2	2
DSCAML1	57453	broad.mit.edu	36	11	116814864	116814864	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116814864G>A	uc001prh.1	-	c.4370C>T	c.(4369-4371)TCG>TTG	p.S1457L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1397	Fibronectin type-III 5.|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)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)												0.472973	99.15298	99.196502	35	39	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	Missense_Mutation	SNP	116814864	116814864	4953	11	G	A	A	37	37	DSCAML1	A	1	1
DSCAML1	57453	broad.mit.edu	36	11	116840922	116840922	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116840922G>A	uc001prh.1	-	c.3391C>T	c.(3391-3393)CGG>TGG	p.R1131W		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1071	Extracellular (Potential).|Fibronectin type-III 2.				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)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)												0.240437	97.310378	108.563137	44	139	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	Missense_Mutation	SNP	116840922	116840922	4953	11	G	A	A	37	37	DSCAML1	A	1	1
IL10RA	3587	broad.mit.edu	36	11	117369960	117369960	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117369960C>A	uc001prv.1	+	c.574C>A	c.(574-576)CTC>ATC	p.L192I	IL10RA_uc001prw.1_Missense_Mutation_p.L43I	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	192	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.166667	27.010134	37.760765	17	85	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	Missense_Mutation	SNP	117369960	117369960	7921	11	C	A	A	24	24	IL10RA	A	3	3
TMPRSS4	56649	broad.mit.edu	36	11	117479159	117479159	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117479159C>T	uc009yzt.1	+	c.291C>T	c.(289-291)CCC>CCT	p.P97P	TMPRSS4_uc001psd.2_Silent_p.P97P|TMPRSS4_uc009yzu.1_Non-coding_Transcript|TMPRSS4_uc009yzv.1_Silent_p.P72P	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	97	Extracellular (Potential).|SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)												0.382576	274.512137	277.703221	101	163	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	Silent	SNP	117479159	117479159	16790	11	C	T	T	23	23	TMPRSS4	T	1	1
TMPRSS4	56649	broad.mit.edu	36	11	117483782	117483782	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117483782G>A	uc009yzt.1	+	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TMPRSS4_uc001psd.2_Missense_Mutation_p.R170H|TMPRSS4_uc009yzu.1_Non-coding_Transcript|TMPRSS4_uc009yzv.1_Missense_Mutation_p.R150H	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	175	Extracellular (Potential).|SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)												0.452381	102.032524	102.199122	38	46	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	Missense_Mutation	SNP	117483782	117483782	16790	11	G	A	A	38	38	TMPRSS4	A	1	1
SCN4B	6330	broad.mit.edu	36	11	117519923	117519923	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117519923G>A	uc001pse.1	-	c.298C>T	c.(298-300)CGC>TGC	p.R100C		NM_174934	NP_777594	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta	100	Ig-like C2-type.|Extracellular (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)												0.503268	478.747627	478.750489	154	152	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Missense_Mutation	SNP	117519923	117519923	14403	11	G	A	A	39	39	SCN4B	A	1	1
SCN2B	6327	broad.mit.edu	36	11	117552292	117552292	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117552292G>T	uc001psf.1	-	c.65C>A	c.(64-66)TCT>TAT	p.S22Y		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	22					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.216667	97.641722	115.453988	52	188	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Missense_Mutation	SNP	117552292	117552292	14399	11	G	T	T	33	33	SCN2B	T	3	3
AMICA1	120425	broad.mit.edu	36	11	117570268	117570268	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117570268T>G	uc001psk.2	-	c.1167A>C	c.(1165-1167)AAA>AAC	p.K389N	AMICA1_uc001psg.2_Missense_Mutation_p.K199N|AMICA1_uc001psh.2_Missense_Mutation_p.K350N|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.K379N|AMICA1_uc001psj.2_Missense_Mutation_p.K378N	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	389	Cytoplasmic (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.201923	52.92093	61.502599	21	83	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	Missense_Mutation	SNP	117570268	117570268	577	11	T	G	G	64	64	AMICA1	G	4	4
MPZL3	196264	broad.mit.edu	36	11	117609396	117609396	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117609396C>T	uc001psm.1	-	c.670G>A	c.(670-672)GCT>ACT	p.A224T	MPZL3_uc009yzy.1_Non-coding_Transcript	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	224					cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)												0.156863	24.036001	35.498489	16	86	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	Missense_Mutation	SNP	117609396	117609396	10143	11	C	T	T	27	27	MPZL3	T	1	1
CD3G	917	broad.mit.edu	36	11	117720381	117720381	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117720381C>T	uc001psu.2	+	c.33C>T	c.(31-33)ATC>ATT	p.I11I	CD3D_uc001pss.1_5'Flank|CD3D_uc001pst.1_5'Flank	NM_000073	NP_000064	P09693	CD3G_HUMAN	CD3G antigen, gamma polypeptide precursor	11					establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.25	6.918429	7.600841	3	9	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Silent	SNP	117720381	117720381	3141	11	C	T	T	30	30	CD3G	T	2	2
UBE4A	9354	broad.mit.edu	36	11	117758692	117758692	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117758692G>A	uc001psv.1	+	c.2209G>A	c.(2209-2211)GAA>AAA	p.E737K	UBE4A_uc001psw.1_Missense_Mutation_p.E730K	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	730					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|breast(1)|kidney(1)	4	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.2	90.412666	109.691368	46	184	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	Missense_Mutation	SNP	117758692	117758692	17440	11	G	A	A	37	37	UBE4A	A	1	1
MLL	4297	broad.mit.edu	36	11	117848710	117848710	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117848710G>A	uc001ptb.1	+	c.1626G>A	c.(1624-1626)ACG>ACA	p.T542T	MLL_uc001psz.1_Silent_p.T575T|MLL_uc001pta.1_Silent_p.T542T|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	542					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)								723				0.159817	56.779961	80.925324	35	184	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Silent	SNP	117848710	117848710	10010	11	G	A	A	37	37	MLL	A	1	1
MLL	4297	broad.mit.edu	36	11	117849124	117849124	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117849124G>A	uc001ptb.1	+	c.2040G>A	c.(2038-2040)TCG>TCA	p.S680S	MLL_uc001psz.1_Silent_p.S713S|MLL_uc001pta.1_Silent_p.S680S|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	680					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)								723				0.453271	266.369825	266.772469	97	117	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Silent	SNP	117849124	117849124	10010	11	G	A	A	38	38	MLL	A	1	1
MLL	4297	broad.mit.edu	36	11	117857921	117857921	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117857921C>A	uc001ptb.1	+	c.3916C>A	c.(3916-3918)CCG>ACG	p.P1306T	MLL_uc001pta.1_Missense_Mutation_p.P1306T|MLL_uc009zab.1_Silent_p.S31S|MLL_uc009zac.1_Silent_p.S31S|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1306					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)								723				0.224044	79.670462	92.493525	41	142	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Missense_Mutation	SNP	117857921	117857921	10010	11	C	A	A	22	22	MLL	A	3	3
MLL	4297	broad.mit.edu	36	11	117879682	117879682	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117879682G>A	uc001ptb.1	+	c.7865G>A	c.(7864-7866)CGC>CAC	p.R2622H	MLL_uc001pta.1_Missense_Mutation_p.R2619H	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2619					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)								723				0.289256	82.778396	87.594771	35	86	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Missense_Mutation	SNP	117879682	117879682	10010	11	G	A	A	38	38	MLL	A	1	1
MLL	4297	broad.mit.edu	36	11	117882317	117882317	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117882317G>A	uc001ptb.1	+	c.10500G>A	c.(10498-10500)CAG>CAA	p.Q3500Q	MLL_uc001pta.1_Silent_p.Q3497Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3497					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)								723				0.200935	86.462596	104.333177	43	171	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Silent	SNP	117882317	117882317	10010	11	G	A	A	33	33	MLL	A	2	2
MLL	4297	broad.mit.edu	36	11	117895910	117895910	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117895910C>A	uc001ptb.1	+	c.11350C>A	c.(11350-11352)CTG>ATG	p.L3784M	MLL_uc001pta.1_Missense_Mutation_p.L3781M	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3781					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)								723				0.465909	116.860898	116.950488	41	47	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Missense_Mutation	SNP	117895910	117895910	10010	11	C	A	A	24	24	MLL	A	3	3
IFT46	56912	broad.mit.edu	36	11	117930496	117930496	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117930496C>T	uc001pto.1	-	c.524G>A	c.(523-525)GGA>GAA	p.G175E	IFT46_uc001ptp.1_Missense_Mutation_p.G124E|IFT46_uc009zaf.1_Missense_Mutation_p.G175E	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	hypothetical protein LOC56912	124					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0														0.199052	89.927712	107.712604	42	169	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117930496	117930496	7861	11	C	T	T	30	30	IFT46	T	2	2
ARCN1	372	broad.mit.edu	36	11	117973656	117973656	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117973656C>T	uc009zag.1	+	c.1389C>T	c.(1387-1389)ATC>ATT	p.I463I	ARCN1_uc001ptq.1_Silent_p.I422I|ARCN1_uc009zah.1_Intron	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	422	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)												0.491525	84.470266	84.474002	29	30	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	Silent	SNP	117973656	117973656	853	11	C	T	T	31	31	ARCN1	T	1	1
PHLDB1	23187	broad.mit.edu	36	11	118007243	118007243	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118007243T>C	uc001ptr.1	+	c.1937T>C	c.(1936-1938)TTG>TCG	p.L646S	PHLDB1_uc001pts.1_Missense_Mutation_p.L646S|PHLDB1_uc001ptt.1_Missense_Mutation_p.L646S|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.L446S|PHLDB1_uc001ptw.1_Missense_Mutation_p.L48S|PHLDB1_uc009zai.1_5'Flank|PHLDB1_uc001ptx.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	646											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)												0.221622	85.775759	98.975794	41	144	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	Missense_Mutation	SNP	118007243	118007243	12275	11	T	C	C	63	63	PHLDB1	C	4	4
PHLDB1	23187	broad.mit.edu	36	11	118026428	118026428	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118026428C>T	uc001ptr.1	+	c.3840C>T	c.(3838-3840)TTC>TTT	p.F1280F	PHLDB1_uc001pts.1_Silent_p.F1280F|PHLDB1_uc001ptt.1_Silent_p.F1233F|PHLDB1_uc001ptu.1_Non-coding_Transcript|PHLDB1_uc001ptv.1_Silent_p.F1095F|PHLDB1_uc001ptw.1_Silent_p.F635F|PHLDB1_uc009zai.1_Silent_p.F316F|PHLDB1_uc001ptx.1_Silent_p.F316F	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1280	PH.										0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)												0.240741	117.82237	131.051624	52	164	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	Silent	SNP	118026428	118026428	12275	11	C	T	T	31	31	PHLDB1	T	1	1
TREH	11181	broad.mit.edu	36	11	118034642	118034642	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118034642C>T	uc001pty.1	-	c.1556G>A	c.(1555-1557)AGC>AAC	p.S519N	TREH_uc009zaj.1_Missense_Mutation_p.S488N|TREH_uc001ptz.1_Missense_Mutation_p.S396N	NM_007180	NP_009111	O43280	TREA_HUMAN	trehalase	519					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			pancreas(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)												0.193548	12.731485	15.449129	6	25	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	Missense_Mutation	SNP	118034642	118034642	17013	11	C	T	T	28	28	TREH	T	2	2
FOXR1	283150	broad.mit.edu	36	11	118355530	118355530	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118355530G>T	uc001pui.1	+	c.553G>T	c.(553-555)GCA>TCA	p.A185S	FOXR1_uc001puj.1_Non-coding_Transcript|FOXR1_uc001puk.1_Intron	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	185	Fork-head.				embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ 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 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(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)												0.380645	160.77746	162.717633	59	96	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	Missense_Mutation	SNP	118355530	118355530	6277	11	G	T	T	42	42	FOXR1	T	3	3
FOXR1	283150	broad.mit.edu	36	11	118356597	118356597	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118356597G>A	uc001pui.1	+	c.799G>A	c.(799-801)GCC>ACC	p.A267T	FOXR1_uc001puj.1_Non-coding_Transcript|FOXR1_uc001puk.1_Missense_Mutation_p.A98T	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	267	Fork-head.				embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ 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 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(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)												0.48913	111.169191	111.177913	45	47	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	Missense_Mutation	SNP	118356597	118356597	6277	11	G	A	A	38	38	FOXR1	A	1	1
CCDC84	338657	broad.mit.edu	36	11	118386729	118386729	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118386729G>T	uc001pul.1	+	c.429G>T	c.(427-429)AAG>AAT	p.K143N		NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	143	Potential.									ovary(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)												0.230088	56.08491	63.637413	26	87	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	Missense_Mutation	SNP	118386729	118386729	2982	11	G	T	T	35	35	CCDC84	T	3	3
HYOU1	10525	broad.mit.edu	36	11	118424455	118424455	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118424455C>A	uc001puu.2	-	c.2196G>T	c.(2194-2196)GAG>GAT	p.E732D	HYOU1_uc001put.2_Missense_Mutation_p.E697D	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	732						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)												0.259669	100.930066	110.40892	47	134	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	Missense_Mutation	SNP	118424455	118424455	7770	11	C	A	A	32	32	HYOU1	A	3	3
HYOU1	10525	broad.mit.edu	36	11	118427361	118427361	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118427361G>A	uc001puu.2	-	c.1525C>T	c.(1525-1527)CGG>TGG	p.R509W	HYOU1_uc001put.2_Missense_Mutation_p.R474W|HYOU1_uc001puw.1_Missense_Mutation_p.R509W	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	509						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)												0.47619	226.281236	226.364302	80	88	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	Missense_Mutation	SNP	118427361	118427361	7770	11	G	A	A	37	37	HYOU1	A	1	1
HYOU1	10525	broad.mit.edu	36	11	118428055	118428055	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118428055G>A	uc001puu.2	-	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W	HYOU1_uc001put.2_Missense_Mutation_p.R353W|HYOU1_uc001puw.1_Missense_Mutation_p.R388W	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	388						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)												0.220183	93.909794	109.728216	48	170	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	Missense_Mutation	SNP	118428055	118428055	7770	11	G	A	A	37	37	HYOU1	A	1	1
HYOU1	10525	broad.mit.edu	36	11	118428228	118428228	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118428228C>T	uc001puu.2	-	c.1111G>A	c.(1111-1113)GAA>AAA	p.E371K	HYOU1_uc001put.2_Missense_Mutation_p.E336K|HYOU1_uc001puw.1_Missense_Mutation_p.E371K	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	371						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)												0.241192	194.500683	217.050606	89	280	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	Missense_Mutation	SNP	118428228	118428228	7770	11	C	T	T	31	31	HYOU1	T	1	1
HYOU1	10525	broad.mit.edu	36	11	118431758	118431758	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118431758C>A	uc001puu.2	-	c.99G>T	c.(97-99)CTG>CTT	p.L33L	HYOU1_uc001put.2_5'UTR|HYOU1_uc001puw.1_Silent_p.L33L|HYOU1_uc001pux.2_Silent_p.L33L	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	33						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)										OREG0021394	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.221053	88.63119	102.257833	42	148	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	Silent	SNP	118431758	118431758	7770	11	C	A	A	21	21	HYOU1	A	3	3
DPAGT1	1798	broad.mit.edu	36	11	118476629	118476629	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118476629G>T	uc001pvi.1	-	c.417C>A	c.(415-417)GTC>GTA	p.V139V	DPAGT1_uc001pvj.1_Silent_p.V32V|DPAGT1_uc009zaq.1_Non-coding_Transcript|DPAGT1_uc001pvk.1_Intron|DPAGT1_uc001pvm.1_Silent_p.V32V	NM_001382	NP_976061	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	139	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)										OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.413793	92.786055	93.349085	36	51	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	Silent	SNP	118476629	118476629	4894	11	G	T	T	33	33	DPAGT1	T	3	3
C2CD2L	9854	broad.mit.edu	36	11	118486095	118486095	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118486095C>T	uc001pvn.1	+	c.426C>T	c.(424-426)TGC>TGT	p.C142C	C2CD2L_uc001pvo.1_Silent_p.C142C	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	142						integral to membrane					0														0.458904	187.907472	188.122004	67	79	CC		KEEP	---	---	---	---	capture			Silent	SNP	118486095	118486095	2236	11	C	T	T	27	27	C2CD2L	T	1	1
C2CD2L	9854	broad.mit.edu	36	11	118487264	118487264	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118487264C>T	uc001pvn.1	+	c.880C>T	c.(880-882)CGG>TGG	p.R294W	C2CD2L_uc001pvo.1_Missense_Mutation_p.R294W	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	294						integral to membrane					0														0.439024	448.195828	449.390027	162	207	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118487264	118487264	2236	11	C	T	T	31	31	C2CD2L	T	1	1
HINFP	25988	broad.mit.edu	36	11	118506868	118506868	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118506868C>T	uc001pvp.1	+	c.405C>T	c.(403-405)CAC>CAT	p.H135H	HINFP_uc001pvq.1_Silent_p.H135H|HINFP_uc001pvr.1_5'Flank	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	135	C2H2-type 2.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|promoter binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription coactivator activity|zinc ion binding			pancreas(2)|ovary(1)	3														0.186047	66.292607	82.189039	32	140	CC		KEEP	---	---	---	---	capture			Silent	SNP	118506868	118506868	7395	11	C	T	T	20	20	HINFP	T	2	2
ABCG4	64137	broad.mit.edu	36	11	118526096	118526096	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118526096C>T	uc001pvs.1	+	c.211C>T	c.(211-213)CGG>TGG	p.R71W	ABCG4_uc009zar.1_Missense_Mutation_p.R71W	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	71	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)												0.221374	115.112049	133.771727	58	204	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	Missense_Mutation	SNP	118526096	118526096	71	11	C	T	T	27	27	ABCG4	T	1	1
ABCG4	64137	broad.mit.edu	36	11	118530306	118530306	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118530306C>T	uc001pvs.1	+	c.483C>T	c.(481-483)GCC>GCT	p.A161A	ABCG4_uc009zar.1_Silent_p.A161A	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	161	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)												0.200658	131.689309	157.029198	61	243	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	Silent	SNP	118530306	118530306	71	11	C	T	T	21	21	ABCG4	T	2	2
ABCG4	64137	broad.mit.edu	36	11	118536159	118536159	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118536159G>T	uc001pvs.1	+	c.1450G>T	c.(1450-1452)GTG>TTG	p.V484L	ABCG4_uc009zar.1_Missense_Mutation_p.V484L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	484	ABC transmembrane type-2.|Helical; Name=3; (Potential).				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)												0.443787	204.79839	205.263191	75	94	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	Missense_Mutation	SNP	118536159	118536159	71	11	G	T	T	44	44	ABCG4	T	3	3
CBL	867	broad.mit.edu	36	11	118654085	118654085	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118654085G>T	uc001pwe.1	+	c.1096_splice	c.e8-1	p.E366_splice		NM_005188	NP_005179			Cas-Br-M (murine) ecotropic retroviral						epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		haematopoietic_and_lymphoid_tissue(133)|lung(9)|central_nervous_system(2)|ovary(1)	145		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)								309				0.329114	62.814477	64.864084	26	53	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	Splice_Site_SNP	SNP	118654085	118654085	2819	11	G	T	T	35	35	CBL	T	5	3
MCAM	4162	broad.mit.edu	36	11	118687561	118687561	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118687561C>T	uc001pwf.1	-	c.1296G>A	c.(1294-1296)TGG>TGA	p.W432*	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	432	Ig-like C2-type 3.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)												0.20339	96.525512	115.778523	48	188	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	Nonsense_Mutation	SNP	118687561	118687561	9757	11	C	T	T	30	30	MCAM	T	5	2
MCAM	4162	broad.mit.edu	36	11	118688501	118688501	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118688501T>G	uc001pwf.1	-	c.807A>C	c.(805-807)GAA>GAC	p.E269D	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	269	Ig-like C2-type 1.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)												0.128514	51.67658	85.107598	32	217	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	Missense_Mutation	SNP	118688501	118688501	9757	11	T	G	G	64	64	MCAM	G	4	4
MFRP	83552	broad.mit.edu	36	11	118721497	118721497	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118721497C>A	uc001pwk.1	-	c.484G>T	c.(484-486)GAC>TAC	p.D162Y	MFRP_uc001pwj.1_Non-coding_Transcript	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	75	Collagen-like.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)												0.16	26.002965	39.7938	20	105	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	Missense_Mutation	SNP	118721497	118721497	9916	11	C	A	A	32	32	MFRP	A	3	3
MFRP	83552	broad.mit.edu	36	11	118722256	118722256	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118722256C>T	uc001pwk.1	-	c.93G>A	c.(91-93)GGG>GGA	p.G31G	MFRP_uc001pwj.1_Non-coding_Transcript	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	57	Collagen-like.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)												0.383562	70.810325	71.666646	28	45	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	Silent	SNP	118722256	118722256	9916	11	C	T	T	26	26	MFRP	T	2	2
USP2	9099	broad.mit.edu	36	11	118733151	118733151	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118733151A>G	uc001pwm.2	-	c.1686T>C	c.(1684-1686)TGT>TGC	p.C562C	USP2_uc001pwn.2_Silent_p.C319C|USP2_uc001pwl.2_Silent_p.C353C	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	562					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)	3		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)												0.404494	232.766292	234.184088	72	106	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	Silent	SNP	118733151	118733151	17614	11	A	G	G	10	10	USP2	G	4	4
PVRL1	5818	broad.mit.edu	36	11	119053735	119053735	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:119053735C>T	uc001pwv.1	-	c.473G>A	c.(472-474)CGA>CAA	p.R158Q	PVRL1_uc001pwu.1_Missense_Mutation_p.R158Q|PVRL1_uc001pww.1_Missense_Mutation_p.R158Q	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	158	Extracellular (Potential).|Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.118182	11.219018	26.96254	13	97	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	Missense_Mutation	SNP	119053735	119053735	13297	11	C	T	T	31	31	PVRL1	T	1	1
USP47	55031	broad.mit.edu	36	11	11928569	11928569	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:11928569T>C	uc001mjs.1	+	c.3547T>C	c.(3547-3549)TCC>CCC	p.S1183P	USP47_uc001mjr.1_Missense_Mutation_p.S1115P|USP47_uc009ygi.1_5'UTR	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1203					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of gene-specific transcription|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	specific transcriptional repressor activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2														0.190476	121.266882	143.823057	48	204	TT		KEEP	---	---	---	---	capture		Epithelial(150;0.000339)	Missense_Mutation	SNP	11928569	11928569	17642	11	T	C	C	62	62	USP47	C	4	4
TRIM29	23650	broad.mit.edu	36	11	119513914	119513914	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:119513914C>T	uc001pwz.1	-	c.36G>A	c.(34-36)TCG>TCA	p.S12S	TRIM29_uc001pxa.1_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	12					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)	3		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.402597	79.997549	80.638455	31	46	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	Silent	SNP	119513914	119513914	17047	11	C	T	T	31	31	TRIM29	T	1	1
OAF	220323	broad.mit.edu	36	11	119604950	119604950	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:119604950G>A	uc001pxb.1	+	c.711G>A	c.(709-711)CGG>CGA	p.R237R		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog	237											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)												0.338583	109.459042	112.349845	43	84	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	Silent	SNP	119604950	119604950	11203	11	G	A	A	42	42	OAF	A	2	2
OAF	220323	broad.mit.edu	36	11	119605045	119605045	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:119605045A>T	uc001pxb.1	+	c.806A>T	c.(805-807)GAT>GTT	p.D269V		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog	269											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)												0.135135	23.466091	37.773577	15	96	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	Missense_Mutation	SNP	119605045	119605045	11203	11	A	T	T	12	12	OAF	T	4	4
POU2F3	25833	broad.mit.edu	36	11	119645149	119645149	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:119645149G>T	uc001pxc.2	+	c.118G>T	c.(118-120)GAT>TAT	p.D40Y		NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	40					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)	1		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)												0.423729	134.918807	135.520039	50	68	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	Missense_Mutation	SNP	119645149	119645149	12703	11	G	T	T	33	33	POU2F3	T	3	3
POU2F3	25833	broad.mit.edu	36	11	119681602	119681602	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:119681602G>A	uc001pxc.2	+	c.667G>A	c.(667-669)GAC>AAC	p.D223N	POU2F3_uc001pxe.1_Missense_Mutation_p.D8N	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	223	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)	1		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)												0.457364	333.105708	333.515415	118	140	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	Missense_Mutation	SNP	119681602	119681602	12703	11	G	A	A	37	37	POU2F3	A	1	1
GRIK4	2900	broad.mit.edu	36	11	120178658	120178658	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120178658C>A	uc001pxn.2	+	c.129C>A	c.(127-129)CTC>CTA	p.L43L	GRIK4_uc009zav.1_Silent_p.L43L|GRIK4_uc009zaw.1_Silent_p.L43L|GRIK4_uc009zax.1_Silent_p.L43L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	43	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)			L-Glutamic Acid(DB00142)							OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.202532	87.546836	107.052918	48	189	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	Silent	SNP	120178658	120178658	7055	11	C	A	A	32	32	GRIK4	A	3	3
GRIK4	2900	broad.mit.edu	36	11	120336943	120336943	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120336943G>A	uc001pxn.2	+	c.1990G>A	c.(1990-1992)GCC>ACC	p.A664T	GRIK4_uc009zav.1_Missense_Mutation_p.A664T|GRIK4_uc009zaw.1_Missense_Mutation_p.A664T|GRIK4_uc009zax.1_Missense_Mutation_p.A664T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	664	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)			L-Glutamic Acid(DB00142)									0.411765	161.257113	162.305354	63	90	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	Missense_Mutation	SNP	120336943	120336943	7055	11	G	A	A	38	38	GRIK4	A	1	1
TECTA	7007	broad.mit.edu	36	11	120494233	120494233	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120494233C>A	uc001pxr.1	+	c.799C>A	c.(799-801)CTT>ATT	p.L267I		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	267	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)												0.392157	106.967609	108.009228	40	62	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	Missense_Mutation	SNP	120494233	120494233	16274	11	C	A	A	24	24	TECTA	A	3	3
TECTA	7007	broad.mit.edu	36	11	120504181	120504181	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120504181G>A	uc001pxr.1	+	c.2285G>A	c.(2284-2286)GGA>GAA	p.G762E		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	762	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)												0.220721	105.179331	121.107625	49	173	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	Missense_Mutation	SNP	120504181	120504181	16274	11	G	A	A	41	41	TECTA	A	2	2
TECTA	7007	broad.mit.edu	36	11	120506075	120506075	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120506075C>T	uc001pxr.1	+	c.2886C>T	c.(2884-2886)AGC>AGT	p.S962S		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	962					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)												0.205	79.406448	95.526013	41	159	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	Silent	SNP	120506075	120506075	16274	11	C	T	T	27	27	TECTA	T	1	1
TECTA	7007	broad.mit.edu	36	11	120528969	120528969	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120528969C>T	uc001pxr.1	+	c.4275C>T	c.(4273-4275)TGC>TGT	p.C1425C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1425	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)												0.493151	98.79417	98.797134	36	37	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	Silent	SNP	120528969	120528969	16274	11	C	T	T	27	27	TECTA	T	1	1
TECTA	7007	broad.mit.edu	36	11	120533964	120533964	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120533964C>T	uc001pxr.1	+	c.4510C>T	c.(4510-4512)CGC>TGC	p.R1504C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1504	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)												0.189189	23.361008	30.011501	14	60	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	Missense_Mutation	SNP	120533964	120533964	16274	11	C	T	T	27	27	TECTA	T	1	1
TECTA	7007	broad.mit.edu	36	11	120538141	120538141	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120538141C>T	uc001pxr.1	+	c.5124C>T	c.(5122-5124)CTC>CTT	p.L1708L		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1708					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)												0.204225	57.30338	68.829572	29	113	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	Silent	SNP	120538141	120538141	16274	11	C	T	T	31	31	TECTA	T	1	1
TECTA	7007	broad.mit.edu	36	11	120542513	120542513	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120542513C>T	uc001pxr.1	+	c.5400C>T	c.(5398-5400)ATC>ATT	p.I1800I		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1800					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)												0.204188	80.71207	96.229937	39	152	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	Silent	SNP	120542513	120542513	16274	11	C	T	T	31	31	TECTA	T	1	1
SC5DL	6309	broad.mit.edu	36	11	120680292	120680292	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120680292C>T	uc001pxu.1	+	c.223C>T	c.(223-225)CGA>TGA	p.R75*	SC5DL_uc001pxs.1_3'UTR|SC5DL_uc001pxt.1_Nonsense_Mutation_p.R75*|SC5DL_uc001pxv.1_Nonsense_Mutation_p.R75*	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	75					fatty acid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.42069	171.042196	171.839304	61	84	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	Nonsense_Mutation	SNP	120680292	120680292	14347	11	C	T	T	31	31	SC5DL	T	5	1
SC5DL	6309	broad.mit.edu	36	11	120683171	120683171	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120683171C>T	uc001pxu.1	+	c.640C>T	c.(640-642)CGT>TGT	p.R214C	SC5DL_uc001pxt.1_3'UTR|SC5DL_uc001pxv.1_Missense_Mutation_p.R214C	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	214					fatty acid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.235546	244.91591	274.793249	110	357	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	Missense_Mutation	SNP	120683171	120683171	14347	11	C	T	T	31	31	SC5DL	T	1	1
SORL1	6653	broad.mit.edu	36	11	120890170	120890170	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120890170A>C	uc001pxx.2	+	c.1141A>C	c.(1141-1143)AAG>CAG	p.K381Q		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	381	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)|central_nervous_system(1)|pancreas(1)	13		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)								937				0.225564	80.885772	90.082462	30	103	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	Missense_Mutation	SNP	120890170	120890170	15434	11	A	C	C	9	9	SORL1	C	4	4
SORL1	6653	broad.mit.edu	36	11	120896753	120896753	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120896753G>T	uc001pxx.2	+	c.1389G>T	c.(1387-1389)GAG>GAT	p.E463D		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	463	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)|central_nervous_system(1)|pancreas(1)	13		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)								937				0.373737	93.637388	95.027858	37	62	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	Missense_Mutation	SNP	120896753	120896753	15434	11	G	T	T	33	33	SORL1	T	3	3
SORL1	6653	broad.mit.edu	36	11	121001175	121001175	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:121001175C>T	uc001pxx.2	+	c.6343C>T	c.(6343-6345)CTG>TTG	p.L2115L		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	2115	Extracellular (Potential).|Fibronectin type-III 6.				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)|central_nervous_system(1)|pancreas(1)	13		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)								937				0.443478	311.711263	312.35281	102	128	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	Silent	SNP	121001175	121001175	15434	11	C	T	T	28	28	SORL1	T	2	2
MUC5B	727897	broad.mit.edu	36	11	1210313	1210313	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1210313G>A	uc001ltb.2	+	c.1910G>A	c.(1909-1911)CGC>CAC	p.R637H	MUC5B_uc009yct.1_Missense_Mutation_p.R634H	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	mucin 5, subtype B, tracheobronchial	634	VWFD 2.				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)												0.333333	8.688761	8.987603	4	8	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Missense_Mutation	SNP	1210313	1210313	10373	11	G	A	A	38	38	MUC5B	A	1	1
MUC5B	727897	broad.mit.edu	36	11	1217685	1217685	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1217685G>A	uc001ltb.2	+	c.3673G>A	c.(3673-3675)GAC>AAC	p.D1225N		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	mucin 5, subtype B, tracheobronchial	1222	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.258065	16.671254	18.329281	8	23	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Missense_Mutation	SNP	1217685	1217685	10373	11	G	A	A	37	37	MUC5B	A	1	1
MUC5B	727897	broad.mit.edu	36	11	1220478	1220478	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1220478G>A	uc001ltb.2	+	c.5801G>A	c.(5800-5802)AGA>AAA	p.R1934K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	mucin 5, subtype B, tracheobronchial	1931	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			LR -> QA (in Ref. 4; CAA96577).	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)												0.184211	55.104613	69.333573	28	124	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Missense_Mutation	SNP	1220478	1220478	10373	11	G	A	A	33	33	MUC5B	A	2	2
MUC5B	727897	broad.mit.edu	36	11	1221371	1221371	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1221371G>T	uc001ltb.2	+	c.6694G>T	c.(6694-6696)GAG>TAG	p.E2232*		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	mucin 5, subtype B, tracheobronchial	2229	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.259259	39.467898	43.783998	21	60	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Nonsense_Mutation	SNP	1221371	1221371	10373	11	G	T	T	33	33	MUC5B	T	5	3
UBASH3B	84959	broad.mit.edu	36	11	122184031	122184031	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122184031T>C	uc001pyi.2	+	c.1749T>C	c.(1747-1749)TGT>TGC	p.C583C		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	583	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)												0.230975	467.187752	516.802742	173	576	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	Silent	SNP	122184031	122184031	17397	11	T	C	C	57	57	UBASH3B	C	4	4
CRTAM	56253	broad.mit.edu	36	11	122214475	122214475	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122214475G>T	uc001pyj.1	+	c.11G>T	c.(10-12)AGA>ATA	p.R4I		NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated	4					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.163793	28.34248	40.81111	19	97	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	Missense_Mutation	SNP	122214475	122214475	4036	11	G	T	T	33	33	CRTAM	T	3	3
CRTAM	56253	broad.mit.edu	36	11	122243357	122243357	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122243357G>T	uc001pyj.1	+	c.848G>T	c.(847-849)AGA>ATA	p.R283I	CRTAM_uc001pyk.1_Missense_Mutation_p.R84I	NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated	283	Extracellular (Potential).				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.193878	34.160257	42.739579	19	79	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	Missense_Mutation	SNP	122243357	122243357	4036	11	G	T	T	33	33	CRTAM	T	3	3
C11orf63	79864	broad.mit.edu	36	11	122300896	122300896	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122300896G>T	uc001pym.1	+	c.946G>T	c.(946-948)GAT>TAT	p.D316Y		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	316										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.218978	59.665558	69.645356	30	107	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	Missense_Mutation	SNP	122300896	122300896	1693	11	G	T	T	33	33	C11orf63	T	3	3
C11orf63	79864	broad.mit.edu	36	11	122310386	122310386	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122310386G>A	uc001pym.1	+	c.1027G>A	c.(1027-1029)GTA>ATA	p.V343I		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	343										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.231707	38.675426	44.089682	19	63	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	Missense_Mutation	SNP	122310386	122310386	1693	11	G	A	A	48	48	C11orf63	A	2	2
C11orf63	79864	broad.mit.edu	36	11	122310785	122310785	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122310785G>T	uc001pym.1	+	c.1426G>T	c.(1426-1428)GAA>TAA	p.E476*		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	476										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.184502	88.467185	113.796225	50	221	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	Nonsense_Mutation	SNP	122310785	122310785	1693	11	G	T	T	33	33	C11orf63	T	5	3
BSX	390259	broad.mit.edu	36	11	122357384	122357384	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122357384G>A	uc001pyn.2	-	c.206C>T	c.(205-207)GCC>GTC	p.A69V		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	69	His-rich.						transcription regulator activity				0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.391304	23.568804	23.806899	9	14	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	Missense_Mutation	SNP	122357384	122357384	1567	11	G	A	A	42	42	BSX	A	2	2
MICALCL	84953	broad.mit.edu	36	11	12272146	12272146	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:12272146A>C	uc001mkg.1	+	c.592A>C	c.(592-594)ATC>CTC	p.I198L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	198					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding				0														0.186916	102.787694	122.422775	40	174	AA		KEEP	---	---	---	---	capture		Epithelial(150;0.00177)	Missense_Mutation	SNP	12272146	12272146	9962	11	A	C	C	8	8	MICALCL	C	4	4
MUC5B	727897	broad.mit.edu	36	11	1228006	1228006	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1228006G>A	uc001ltb.2	+	c.13329G>A	c.(13327-13329)CCG>CCA	p.P4443P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	mucin 5, subtype B, tracheobronchial	4440	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.532075	369.260812	369.490173	141	124	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Silent	SNP	1228006	1228006	10373	11	G	A	A	40	40	MUC5B	A	1	1
MUC5B	727897	broad.mit.edu	36	11	1228910	1228910	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1228910G>A	uc001ltb.2	+	c.14233G>A	c.(14233-14235)GCC>ACC	p.A4745T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	mucin 5, subtype B, tracheobronchial	4742	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.242187	69.652066	77.419433	31	97	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Missense_Mutation	SNP	1228910	1228910	10373	11	G	A	A	34	34	MUC5B	A	2	2
MUC5B	727897	broad.mit.edu	36	11	1228982	1228982	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1228982G>A	uc001ltb.2	+	c.14305G>A	c.(14305-14307)GCA>ACA	p.A4769T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	mucin 5, subtype B, tracheobronchial	4766	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.21	43.218542	51.003816	21	79	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Missense_Mutation	SNP	1228982	1228982	10373	11	G	A	A	34	34	MUC5B	A	2	2
MUC5B	727897	broad.mit.edu	36	11	1232090	1232090	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1232090G>T	uc001ltb.2	+	c.15419G>T	c.(15418-15420)AGC>ATC	p.S5140I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	mucin 5, subtype B, tracheobronchial	5137	VWFD 4.				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)												0.461538	95.629139	95.723727	36	42	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Missense_Mutation	SNP	1232090	1232090	10373	11	G	T	T	34	34	MUC5B	T	3	3
OR10G4	390264	broad.mit.edu	36	11	123392029	123392029	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123392029G>A	uc001pzn.1	+	c.538G>A	c.(538-540)GCA>ACA	p.A180T		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(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)												0.216667	155.139488	181.821472	78	282	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	Missense_Mutation	SNP	123392029	123392029	11307	11	G	A	A	38	38	OR10G4	A	1	1
OR8G2	26492	broad.mit.edu	36	11	123600722	123600722	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123600722C>T	uc001pzw.1	+	c.115C>T	c.(115-117)CGC>TGC	p.R39C		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	olfactory receptor, family 8, subfamily G,	39						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)												0.212121	104.179627	124.400021	56	208	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	Missense_Mutation	SNP	123600722	123600722	11646	11	C	T	T	27	27	OR8G2	T	1	1
OR8G2	26492	broad.mit.edu	36	11	123601297	123601297	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123601297T>G	uc001pzw.1	+	c.690T>G	c.(688-690)TCT>TCG	p.S230S		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	olfactory receptor, family 8, subfamily G,	230						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)												0.520833	470.846803	470.954947	150	138	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	Silent	SNP	123601297	123601297	11646	11	T	G	G	56	56	OR8G2	G	4	4
OR8G2	26492	broad.mit.edu	36	11	123601417	123601417	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123601417C>T	uc001pzw.1	+	c.810C>T	c.(808-810)TTC>TTT	p.F270F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	olfactory receptor, family 8, subfamily G,	270						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)												0.347561	138.613922	141.982644	57	107	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	Silent	SNP	123601417	123601417	11646	11	C	T	T	29	29	OR8G2	T	2	2
OR8D1	283159	broad.mit.edu	36	11	123685143	123685143	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123685143G>A	uc001pzy.1	-	c.730C>T	c.(730-732)CAT>TAT	p.H244Y		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)												0.457627	153.430469	153.615671	54	64	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	Missense_Mutation	SNP	123685143	123685143	11642	11	G	A	A	45	45	OR8D1	A	2	2
OR8B3	390271	broad.mit.edu	36	11	123771654	123771654	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123771654C>A	uc001qac.1	-	c.804G>T	c.(802-804)GAG>GAT	p.E268D	OR8B2_uc001qab.2_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	268	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)												0.201923	85.828891	103.006225	42	166	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	Missense_Mutation	SNP	123771654	123771654	11639	11	C	A	A	28	28	OR8B3	A	3	3
OR8B3	390271	broad.mit.edu	36	11	123772311	123772311	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123772311G>A	uc001qac.1	-	c.147C>T	c.(145-147)TTC>TTT	p.F49F	OR8B2_uc001qab.2_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	49	Cytoplasmic (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)												0.583333	332.981986	334.142434	112	80	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	Silent	SNP	123772311	123772311	11639	11	G	A	A	37	37	OR8B3	A	1	1
OR8B12	219858	broad.mit.edu	36	11	123918291	123918291	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123918291G>A	uc001qaf.1	-	c.470C>T	c.(469-471)GCC>GTC	p.A157V		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)												0.162162	38.700488	54.773923	24	124	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	Missense_Mutation	SNP	123918291	123918291	11637	11	G	A	A	42	42	OR8B12	A	2	2
PANX3	116337	broad.mit.edu	36	11	123994941	123994941	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123994941A>G	uc001qah.1	+	c.1079A>G	c.(1078-1080)CAC>CGC	p.H360R		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	360	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)												0.444882	349.458163	350.127192	113	141	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	Missense_Mutation	SNP	123994941	123994941	11839	11	A	G	G	6	6	PANX3	G	4	4
TBRG1	84897	broad.mit.edu	36	11	124006489	124006489	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:124006489C>A	uc001qak.2	+	c.1056C>A	c.(1054-1056)ATC>ATA	p.I352I	TBRG1_uc001qaj.2_Silent_p.I201I|TBRG1_uc001qal.2_Silent_p.I128I|TBRG1_uc001qam.2_Non-coding_Transcript|TBRG1_uc009zbf.1_Non-coding_Transcript|TBRG1_uc009zbg.1_Intron|TBRG1_uc009zbh.1_Silent_p.I128I	NM_032811	NP_116200	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	352					cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding				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)												0.206818	173.749618	208.839484	91	349	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)	Silent	SNP	124006489	124006489	16174	11	C	A	A	32	32	TBRG1	A	3	3
SIAE	54414	broad.mit.edu	36	11	124014827	124014827	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:124014827C>T	uc001qan.1	-	c.1113G>A	c.(1111-1113)TCG>TCA	p.S371S		NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN	cytosolic sialic acid 9-O-acetylesterase	371						extracellular region|lysosome	sialate O-acetylesterase 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)												0.439216	300.877126	301.693536	112	143	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	Silent	SNP	124014827	124014827	14793	11	C	T	T	27	27	SIAE	T	1	1
SIAE	54414	broad.mit.edu	36	11	124035853	124035853	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:124035853C>T	uc001qan.1	-	c.286G>A	c.(286-288)GAA>AAA	p.E96K	SIAE_uc001qao.1_Missense_Mutation_p.E96K	NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN	cytosolic sialic acid 9-O-acetylesterase	96						extracellular region|lysosome	sialate O-acetylesterase 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)												0.433476	565.159329	566.959368	202	264	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	Missense_Mutation	SNP	124035853	124035853	14793	11	C	T	T	31	31	SIAE	T	1	1
VSIG2	23584	broad.mit.edu	36	11	124122699	124122699	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:124122699C>A	uc001qas.1	-	c.926G>T	c.(925-927)AGA>ATA	p.R309I		NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	309	Cytoplasmic (Potential).					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)												0.48366	194.828963	194.864441	74	79	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	Missense_Mutation	SNP	124122699	124122699	17792	11	C	A	A	32	32	VSIG2	A	3	3
ESAM	90952	broad.mit.edu	36	11	124129340	124129340	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:124129340C>A	uc001qav.2	-	c.837G>T	c.(835-837)GAG>GAT	p.E279D	VSIG2_uc001qas.1_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc001qau.2_Missense_Mutation_p.E206D|ESAM_uc001qaw.2_Non-coding_Transcript|ESAM_uc001qax.2_Non-coding_Transcript|ESAM_uc009zbi.1_Missense_Mutation_p.E279D	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	279	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					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)												0.384615	110.592643	111.975055	45	72	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	Missense_Mutation	SNP	124129340	124129340	5440	11	C	A	A	24	24	ESAM	A	3	3
C11orf61	79684	broad.mit.edu	36	11	124142560	124142560	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:124142560C>A	uc001qba.1	-	c.1402G>T	c.(1402-1404)GAA>TAA	p.E468*	C11orf61_uc001qay.1_Nonsense_Mutation_p.E238*|C11orf61_uc001qaz.1_Nonsense_Mutation_p.E416*	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	hypothetical protein LOC79684	468											0	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)												0.217195	185.820446	218.463728	96	346	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)	Nonsense_Mutation	SNP	124142560	124142560	1692	11	C	A	A	32	32	C11orf61	A	5	3
ROBO4	54538	broad.mit.edu	36	11	124271389	124271389	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:124271389C>A	uc001qbg.1	-	c.594G>T	c.(592-594)GAG>GAT	p.E198D	ROBO4_uc001qbh.1_Missense_Mutation_p.E88D|ROBO4_uc001qbi.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	198	Ig-like C2-type 2.				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)												0.514286	333.951872	333.992232	126	119	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	Missense_Mutation	SNP	124271389	124271389	13995	11	C	A	A	32	32	ROBO4	A	3	3
SLC37A2	219855	broad.mit.edu	36	11	124456981	124456981	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:124456981C>T	uc009zbk.1	+	c.854C>T	c.(853-855)GCC>GTC	p.A285V	SLC37A2_uc001qbn.1_Missense_Mutation_p.A285V|SLC37A2_uc001qbp.1_5'Flank	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	285					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)				Melanoma(11;373 620 21213 26083 47768)								0.183824	47.386852	60.158024	25	111	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	Missense_Mutation	SNP	124456981	124456981	15095	11	C	T	T	26	26	SLC37A2	T	2	2
CHEK1	1111	broad.mit.edu	36	11	125008402	125008402	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125008402G>T	uc009zbo.1	+	c.559G>T	c.(559-561)GAA>TAA	p.E187*	CHEK1_uc001qcf.2_Nonsense_Mutation_p.E187*|CHEK1_uc009zbp.1_Nonsense_Mutation_p.E187*|CHEK1_uc001qcg.2_Nonsense_Mutation_p.E187*|CHEK1_uc009zbq.1_Nonsense_Mutation_p.E187*|CHEK1_uc001qch.2_Nonsense_Mutation_p.E93*|CHEK1_uc001qci.1_Non-coding_Transcript	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	CHK1 checkpoint homolog	187	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)								124				0.247525	108.835266	120.566099	50	152	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	Nonsense_Mutation	SNP	125008402	125008402	3468	11	G	T	T	33	33	CHEK1	T	5	3
PATE2	399967	broad.mit.edu	36	11	125153072	125153072	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125153072G>A	uc001qcu.1	-	c.112C>T	c.(112-114)CAT>TAT	p.H38Y		NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	38						extracellular space					0														0.248062	69.926527	77.384824	32	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125153072	125153072	11891	11	G	A	A	45	45	PATE2	A	2	2
HYLS1	219844	broad.mit.edu	36	11	125274719	125274719	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125274719C>T	uc001qcw.1	+	c.246C>T	c.(244-246)GTC>GTT	p.V82V	HYLS1_uc001qcx.2_Silent_p.V82V|PUS3_uc001qcy.1_Intron|HYLS1_uc009zbv.1_Silent_p.V82V	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	82						cytoplasm|nucleus					0	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)				Esophageal Squamous(172;2590 2636 8884 10471)								0.217143	83.94613	96.865967	38	137	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	Silent	SNP	125274719	125274719	7769	11	C	T	T	32	32	HYLS1	T	2	2
CDON	50937	broad.mit.edu	36	11	125385728	125385728	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125385728G>A	uc009zbw.1	-	c.1270C>T	c.(1270-1272)CTG>TTG	p.L424L	CDON_uc001qdc.2_Silent_p.L424L|CDON_uc001qdd.2_Non-coding_Transcript	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	424	Ig-like C2-type 5.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.25	79.677573	87.410163	34	102	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	Silent	SNP	125385728	125385728	3299	11	G	A	A	33	33	CDON	A	2	2
TOLLIP	54472	broad.mit.edu	36	11	1254884	1254884	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1254884G>A	uc001lte.1	-	c.786C>T	c.(784-786)GCC>GCT	p.A262A	TOLLIP_uc001ltd.1_Silent_p.A193A|TOLLIP_uc009ycu.1_Silent_p.A201A|TOLLIP_uc001ltf.1_Silent_p.A212A	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	262	CUE.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)												0.30625	134.822323	140.174507	49	111	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)	Silent	SNP	1254884	1254884	16891	11	G	A	A	39	39	TOLLIP	A	1	1
FAM118B	79607	broad.mit.edu	36	11	125610150	125610150	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125610150T>G	uc009zca.1	+	c.56T>G	c.(55-57)TTT>TGT	p.F19C	FAM118B_uc001qdf.1_Missense_Mutation_p.F15C|FAM118B_uc001qdg.1_Missense_Mutation_p.F15C	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	15											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.505495	150.539122	150.541395	46	45	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	Missense_Mutation	SNP	125610150	125610150	5609	11	T	G	G	64	64	FAM118B	G	4	4
KIRREL3	84623	broad.mit.edu	36	11	125800750	125800750	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125800750T>G	uc001qea.1	-	c.1886A>C	c.(1885-1887)AAC>ACC	p.N629T	KIRREL3_uc001qeb.1_Missense_Mutation_p.N617T|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3	629	Cytoplasmic (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)												0.375	19.548458	19.767005	6	10	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	Missense_Mutation	SNP	125800750	125800750	8638	11	T	G	G	60	60	KIRREL3	G	4	4
FLI1	2313	broad.mit.edu	36	11	128157111	128157111	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:128157111G>A	uc001qem.1	+	c.638G>A	c.(637-639)CGA>CAA	p.R213Q	FLI1_uc009zci.1_Missense_Mutation_p.R147Q	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	213					hemostasis|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2262)	bone(2208)|soft_tissue(46)|autonomic_ganglia(4)|central_nervous_system(4)|ovary(2)|pancreas(2)|lung(1)	2267	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)								400				0.191781	84.117266	103.558893	42	177	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	Missense_Mutation	SNP	128157111	128157111	6162	11	G	A	A	37	37	FLI1	A	1	1
KCNJ1	3758	broad.mit.edu	36	11	128214292	128214292	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:128214292C>A	uc001qeo.1	-	c.1114G>T	c.(1114-1116)GGC>TGC	p.G372C	KCNJ1_uc001qep.1_Missense_Mutation_p.G353C|KCNJ1_uc001qeq.1_Missense_Mutation_p.G353C|KCNJ1_uc001qer.1_Missense_Mutation_p.G353C|KCNJ1_uc001qes.1_Missense_Mutation_p.G353C|KCNJ1_uc009zcj.1_Missense_Mutation_p.G353C	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	372	Cytoplasmic (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)			Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)									0.443662	170.963409	171.361842	63	79	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Missense_Mutation	SNP	128214292	128214292	8348	11	C	A	A	24	24	KCNJ1	A	3	3
KCNJ1	3758	broad.mit.edu	36	11	128214558	128214558	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:128214558G>A	uc001qeo.1	-	c.848C>T	c.(847-849)GCG>GTG	p.A283V	KCNJ1_uc001qep.1_Missense_Mutation_p.A264V|KCNJ1_uc001qeq.1_Missense_Mutation_p.A264V|KCNJ1_uc001qer.1_Missense_Mutation_p.A264V|KCNJ1_uc001qes.1_Missense_Mutation_p.A264V|KCNJ1_uc009zcj.1_Missense_Mutation_p.A264V	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	283	Cytoplasmic (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)			Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)									0.232558	107.148282	121.226981	50	165	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Missense_Mutation	SNP	128214558	128214558	8348	11	G	A	A	38	38	KCNJ1	A	1	1
KCNJ1	3758	broad.mit.edu	36	11	128214638	128214638	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:128214638C>T	uc001qeo.1	-	c.768G>A	c.(766-768)GGG>GGA	p.G256G	KCNJ1_uc001qep.1_Silent_p.G237G|KCNJ1_uc001qeq.1_Silent_p.G237G|KCNJ1_uc001qer.1_Silent_p.G237G|KCNJ1_uc001qes.1_Silent_p.G237G|KCNJ1_uc009zcj.1_Silent_p.G237G	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	256	Cytoplasmic (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)			Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)									0.449045	403.113058	403.825415	141	173	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Silent	SNP	128214638	128214638	8348	11	C	T	T	30	30	KCNJ1	T	2	2
KCNJ1	3758	broad.mit.edu	36	11	128215333	128215333	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:128215333G>A	uc001qeo.1	-	c.73C>T	c.(73-75)CGG>TGG	p.R25W	KCNJ1_uc001qep.1_Missense_Mutation_p.R6W|KCNJ1_uc001qeq.1_Missense_Mutation_p.R6W|KCNJ1_uc001qer.1_Missense_Mutation_p.R6W|KCNJ1_uc001qes.1_Missense_Mutation_p.R6W|KCNJ1_uc009zcj.1_Missense_Mutation_p.R6W	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	25	Cytoplasmic (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)			Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)									0.243781	113.403615	125.411514	49	152	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Missense_Mutation	SNP	128215333	128215333	8348	11	G	A	A	37	37	KCNJ1	A	1	1
KCNJ5	3762	broad.mit.edu	36	11	128286880	128286880	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:128286880C>T	uc001qet.1	+	c.502C>T	c.(502-504)CTC>TTC	p.L168F	KCNJ5_uc009zck.1_Missense_Mutation_p.L168F|KCNJ5_uc001qew.1_Missense_Mutation_p.L168F	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	168	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding				0	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			Glibenclamide(DB01016)	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)								0.453642	426.533343	427.09799	137	165	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Missense_Mutation	SNP	128286880	128286880	8359	11	C	T	T	24	24	KCNJ5	T	2	2
ARHGAP32	9743	broad.mit.edu	36	11	128356642	128356642	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:128356642G>A	uc009zcp.1	-	c.1617C>T	c.(1615-1617)TGC>TGT	p.C539C	ARHGAP32_uc009zcq.1_Silent_p.C499C|ARHGAP32_uc009zco.1_5'UTR|ARHGAP32_uc001qez.1_Silent_p.C190C	NM_014715	NP_055530	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 2	539	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5														0.217021	107.584933	124.953186	51	184	GG		KEEP	---	---	---	---	capture			Silent	SNP	128356642	128356642	893	11	G	A	A	34	34	ARHGAP32	A	2	2
ARHGAP32	9743	broad.mit.edu	36	11	128539430	128539430	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:128539430G>A	uc009zcp.1	-	c.219C>T	c.(217-219)AGC>AGT	p.S73S	ARHGAP32_uc009zcq.1_Silent_p.S33S	NM_014715	NP_055530	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 2	73					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5														0.208333	9.761447	11.653306	5	19	GG		KEEP	---	---	---	---	capture			Silent	SNP	128539430	128539430	893	11	G	A	A	38	38	ARHGAP32	A	1	1
NFRKB	4798	broad.mit.edu	36	11	129260588	129260588	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129260588C>T	uc001qfg.1	-	c.631G>A	c.(631-633)GAA>AAA	p.E211K	NFRKB_uc001qfh.1_Missense_Mutation_p.E221K|NFRKB_uc001qfi.1_Missense_Mutation_p.E198K	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	198					inflammatory response|transcription from RNA polymerase II promoter	nucleus	DNA binding|protease binding|specific RNA polymerase II transcription factor activity			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)												0.484536	137.513848	137.5343	47	50	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	Missense_Mutation	SNP	129260588	129260588	10784	11	C	T	T	30	30	NFRKB	T	2	2
PRDM10	56980	broad.mit.edu	36	11	129322256	129322256	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129322256C>T	uc001qfm.1	-	c.514G>A	c.(514-516)GAC>AAC	p.D172N	PRDM10_uc001qfn.1_Missense_Mutation_p.D172N|PRDM10_uc009zct.1_Missense_Mutation_p.D204N|PRDM10_uc001qfj.1_Missense_Mutation_p.D86N|PRDM10_uc001qfk.1_Missense_Mutation_p.D86N|PRDM10_uc001qfl.1_Missense_Mutation_p.D86N	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	172					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)												0.461207	296.031336	296.330169	107	125	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	Missense_Mutation	SNP	129322256	129322256	12893	11	C	T	T	31	31	PRDM10	T	1	1
APLP2	334	broad.mit.edu	36	11	129498778	129498778	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129498778C>T	uc001qft.1	+	c.984C>T	c.(982-984)TTC>TTT	p.F328F	APLP2_uc001qfp.1_Silent_p.F328F|APLP2_uc001qfq.1_Intron|APLP2_uc001qfr.1_Intron|APLP2_uc001qfs.1_Intron|APLP2_uc001qfv.1_Intron	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	328	BPTI/Kunitz inhibitor.|Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)												0.484375	265.156257	265.19721	93	99	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	Silent	SNP	129498778	129498778	790	11	C	T	T	31	31	APLP2	T	1	1
APLP2	334	broad.mit.edu	36	11	129510684	129510684	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129510684G>A	uc001qft.1	+	c.1701G>A	c.(1699-1701)GAG>GAA	p.E567E	APLP2_uc001qfp.1_Silent_p.E567E|APLP2_uc001qfq.1_Silent_p.E511E|APLP2_uc001qfr.1_Silent_p.E333E|APLP2_uc001qfs.1_Silent_p.E338E|APLP2_uc001qfv.1_Silent_p.E458E	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	567	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)												0.445	263.943597	264.471334	89	111	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	Silent	SNP	129510684	129510684	790	11	G	A	A	34	34	APLP2	A	2	2
ST14	6768	broad.mit.edu	36	11	129563990	129563990	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129563990G>T	uc001qfw.1	+	c.386G>T	c.(385-387)AGC>ATC	p.S129I		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14	129	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			Urokinase(DB00013)									0.275862	17.684952	18.998659	8	21	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Missense_Mutation	SNP	129563990	129563990	15729	11	G	T	T	34	34	ST14	T	3	3
ADAMTS15	170689	broad.mit.edu	36	11	129824536	129824536	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129824536G>A	uc001qgh.1	+	c.458G>A	c.(457-459)GGC>GAC	p.G153D		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	153					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|lung(1)|pancreas(1)	4	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)												0.322034	45.200153	46.861928	19	40	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	Missense_Mutation	SNP	129824536	129824536	261	11	G	A	A	42	42	ADAMTS15	A	2	2
ADAMTS15	170689	broad.mit.edu	36	11	129848201	129848201	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129848201G>A	uc001qgh.1	+	c.2128G>A	c.(2128-2130)GAC>AAC	p.D710N		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	710	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|lung(1)|pancreas(1)	4	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)												0.470899	233.109369	233.249203	89	100	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	Missense_Mutation	SNP	129848201	129848201	261	11	G	A	A	37	37	ADAMTS15	A	1	1
SNX19	399979	broad.mit.edu	36	11	130283091	130283091	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:130283091C>A	uc001qgk.2	-	c.2132G>T	c.(2131-2133)AGC>ATC	p.S711I	SNX19_uc001qgl.2_Missense_Mutation_p.S711I|SNX19_uc009zcx.1_Intron|SNX19_uc009zcw.1_5'UTR	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	711					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)								728				0.224138	130.395711	150.708548	65	225	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	Missense_Mutation	SNP	130283091	130283091	15390	11	C	A	A	28	28	SNX19	A	3	3
SNX19	399979	broad.mit.edu	36	11	130289722	130289722	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:130289722C>T	uc001qgk.2	-	c.1323G>A	c.(1321-1323)CTG>CTA	p.L441L	SNX19_uc001qgl.2_Silent_p.L441L|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	441					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)								728				0.22488	94.703323	109.252128	47	162	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	Silent	SNP	130289722	130289722	15390	11	C	T	T	29	29	SNX19	T	2	2
NTM	50863	broad.mit.edu	36	11	131689721	131689721	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:131689721T>G	uc001qgq.1	+	c.848T>G	c.(847-849)TTC>TGC	p.F283C	NTM_uc001qgm.1_Missense_Mutation_p.F283C|NTM_uc001qgo.2_Missense_Mutation_p.F283C|NTM_uc001qgp.1_Missense_Mutation_p.F283C|NTM_uc001qgr.1_Missense_Mutation_p.F65C	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	283	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)	5														0.398964	252.449034	254.168274	77	116	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131689721	131689721	11104	11	T	G	G	62	62	NTM	G	4	4
OPCML	4978	broad.mit.edu	36	11	132032380	132032380	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:132032380C>T	uc001qgs.1	-	c.212G>A	c.(211-213)CGC>CAC	p.R71H	OPCML_uc001qgt.1_Missense_Mutation_p.R71H|OPCML_uc001qgu.1_Missense_Mutation_p.R64H|OPCML_uc009zcy.1_5'UTR	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	71	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)	2	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)												0.390411	151.242203	152.777156	57	89	CC		KEEP	---	---	---	---	capture		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	Missense_Mutation	SNP	132032380	132032380	11280	11	C	T	T	27	27	OPCML	T	1	1
SPATA19	219938	broad.mit.edu	36	11	133219727	133219727	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133219727G>A	uc001qgv.1	-	c.154C>T	c.(154-156)CGG>TGG	p.R52W		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	52					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)												0.430693	243.088643	243.934822	87	115	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	133219727	133219727	15512	11	G	A	A	37	37	SPATA19	A	1	1
IGSF9B	22997	broad.mit.edu	36	11	133300897	133300897	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133300897C>T	uc001qgx.2	-	c.1981G>A	c.(1981-1983)GAC>AAC	p.D661N	IGSF9B_uc001qgy.1_Missense_Mutation_p.D503N	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	661	Fibronectin type-III 2.|Extracellular (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)												0.169492	16.929326	23.01846	10	49	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	133300897	133300897	7907	11	C	T	T	31	31	IGSF9B	T	1	1
JAM3	83700	broad.mit.edu	36	11	133519430	133519430	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133519430G>A	uc001qhb.1	+	c.476G>A	c.(475-477)CGC>CAC	p.R159H	JAM3_uc009zcz.1_Intron	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	114	Extracellular (Potential).|Ig-like V-type.				blood coagulation	integral to membrane				ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)												0.192488	71.556612	90.372563	41	172	GG		KEEP	---	---	---	---	capture		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	Missense_Mutation	SNP	133519430	133519430	8248	11	G	A	A	38	38	JAM3	A	1	1
ARNTL	406	broad.mit.edu	36	11	13352309	13352309	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:13352309G>T	uc001mkr.1	+	c.1159G>T	c.(1159-1161)GAA>TAA	p.E387*	ARNTL_uc001mko.1_Nonsense_Mutation_p.E343*|ARNTL_uc001mkp.1_Nonsense_Mutation_p.E386*|ARNTL_uc001mkq.1_Nonsense_Mutation_p.E386*|ARNTL_uc001mks.1_Nonsense_Mutation_p.E344*|ARNTL_uc001mkt.1_Nonsense_Mutation_p.E387*|ARNTL_uc001mku.1_Non-coding_Transcript|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkw.1_Nonsense_Mutation_p.E344*|ARNTL_uc001mkx.1_Nonsense_Mutation_p.E385*|ARNTL_uc001mky.1_5'Flank	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	387	PAS 2.				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|transcription regulator activity				0														0.422619	187.876412	188.758224	71	97	GG		KEEP	---	---	---	---	capture		Epithelial(150;0.0243)	Nonsense_Mutation	SNP	13352309	13352309	985	11	G	T	T	33	33	ARNTL	T	5	3
NCAPD3	23310	broad.mit.edu	36	11	133552498	133552498	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133552498G>A	uc001qhd.1	-	c.2847C>T	c.(2845-2847)CTC>CTT	p.L949L	NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	949					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|lung(1)|kidney(1)	4	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)								861				0.447368	239.550535	240.00835	85	105	GG		KEEP	---	---	---	---	capture		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	Silent	SNP	133552498	133552498	10605	11	G	A	A	37	37	NCAPD3	A	1	1
THYN1	29087	broad.mit.edu	36	11	133623955	133623955	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133623955G>A	uc001qhf.1	-	c.589C>T	c.(589-591)CTC>TTC	p.L197F	THYN1_uc001qhg.1_Missense_Mutation_p.L197F|THYN1_uc001qhh.1_Missense_Mutation_p.L197F|THYN1_uc001qhi.1_Intron|THYN1_uc001qhj.1_Intron	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1 isoform 1	197						nucleus					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)												0.481818	316.022693	316.086074	106	114	GG		KEEP	---	---	---	---	capture		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)	Missense_Mutation	SNP	133623955	133623955	16414	11	G	A	A	33	33	THYN1	A	2	2
GLB1L3	112937	broad.mit.edu	36	11	133682303	133682303	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133682303G>T	uc009zdf.1	+	c.952G>T	c.(952-954)GAT>TAT	p.D318Y	GLB1L3_uc001qho.2_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	318					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)												0.18	14.942956	19.761763	9	41	GG		KEEP	---	---	---	---	capture		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	Missense_Mutation	SNP	133682303	133682303	6698	11	G	T	T	33	33	GLB1L3	T	3	3
GLB1L2	89944	broad.mit.edu	36	11	133720145	133720145	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133720145G>A	uc001qhp.1	+	c.361G>A	c.(361-363)GTC>ATC	p.V121I	GLB1L2_uc009zdg.1_5'Flank	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	121					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)	2	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)												0.164179	16.785923	23.96238	11	56	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	133720145	133720145	6697	11	G	A	A	40	40	GLB1L2	A	1	1
B3GAT1	27087	broad.mit.edu	36	11	133758790	133758790	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133758790G>A	uc001qhq.1	-	c.615C>T	c.(613-615)TTC>TTT	p.F205F	B3GAT1_uc001qhr.1_Silent_p.F205F	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	205	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)												0.333333	21.877403	22.535952	9	18	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	133758790	133758790	1274	11	G	A	A	37	37	B3GAT1	A	1	1
BTBD10	84280	broad.mit.edu	36	11	13395287	13395287	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:13395287C>T	uc001mkz.1	-	c.681G>A	c.(679-681)GCG>GCA	p.A227A	BTBD10_uc001mla.1_Silent_p.A211A|BTBD10_uc009ygn.1_Intron|BTBD10_uc009ygo.1_Silent_p.A179A	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	227	BTB.					nucleus					0														0.474114	501.208642	501.423311	174	193	CC		KEEP	---	---	---	---	capture		Epithelial(150;0.0214)	Silent	SNP	13395287	13395287	1570	11	C	T	T	31	31	BTBD10	T	1	1
SPON1	10418	broad.mit.edu	36	11	14233900	14233900	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14233900C>T	uc001mle.1	+	c.1224C>T	c.(1222-1224)ATC>ATT	p.I408I		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	408					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0														0.470085	154.608619	154.699923	55	62	CC		KEEP	---	---	---	---	capture		Epithelial(150;0.00898)	Silent	SNP	14233900	14233900	15595	11	C	T	T	31	31	SPON1	T	1	1
SPON1	10418	broad.mit.edu	36	11	14235924	14235924	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14235924C>T	uc001mle.1	+	c.1396C>T	c.(1396-1398)CGA>TGA	p.R466*		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	466	TSP type-1 1.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0														0.242424	17.585334	19.580962	8	25	CC		KEEP	---	---	---	---	capture		Epithelial(150;0.00898)	Nonsense_Mutation	SNP	14235924	14235924	15595	11	C	T	T	27	27	SPON1	T	5	1
BRSK2	9024	broad.mit.edu	36	11	1423679	1423679	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1423679C>T	uc001ltm.2	+	c.1330C>T	c.(1330-1332)CGG>TGG	p.R444W	BRSK2_uc009ycv.1_Missense_Mutation_p.R398W|BRSK2_uc001lth.1_Missense_Mutation_p.R398W|BRSK2_uc001lti.2_Missense_Mutation_p.R398W|BRSK2_uc001ltj.1_Missense_Mutation_p.R398W|BRSK2_uc001ltk.1_Non-coding_Transcript|BRSK2_uc001ltl.1_Missense_Mutation_p.R398W|BRSK2_uc001ltn.2_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	398					establishment of cell polarity|neuron differentiation|protein phosphorylation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)								1394				0.194915	40.572201	50.734177	23	95	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	Missense_Mutation	SNP	1423679	1423679	1555	11	C	T	T	27	27	BRSK2	T	1	1
RRAS2	22800	broad.mit.edu	36	11	14272652	14272652	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14272652G>A	uc001mlf.2	-	c.349C>T	c.(349-351)CGT>TGT	p.R117C	RRAS2_uc009ygq.1_Missense_Mutation_p.R40C	NM_012250	NP_001096139	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	117						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)	1														0.342657	129.123684	132.255082	49	94	GG		KEEP	---	---	---	---	capture		Epithelial(150;0.203)	Missense_Mutation	SNP	14272652	14272652	14157	11	G	A	A	37	37	RRAS2	A	1	1
RRAS2	22800	broad.mit.edu	36	11	14272922	14272922	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14272922C>T	uc001mlf.2	-	c.259G>A	c.(259-261)GAA>AAA	p.E87K	RRAS2_uc009ygq.1_Missense_Mutation_p.E10K	NM_012250	NP_001096139	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	87						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)	1														0.257732	174.468322	189.967441	75	216	CC		KEEP	---	---	---	---	capture		Epithelial(150;0.203)	Missense_Mutation	SNP	14272922	14272922	14157	11	C	T	T	31	31	RRAS2	T	1	1
RRAS2	22800	broad.mit.edu	36	11	14273902	14273902	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14273902C>T	uc001mlf.2	-	c.184G>A	c.(184-186)GCC>ACC	p.A62T	RRAS2_uc009ygq.1_5'UTR	NM_012250	NP_001096139	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	62						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)	1														0.441253	482.791895	483.94789	169	214	CC		KEEP	---	---	---	---	capture		Epithelial(150;0.203)	Missense_Mutation	SNP	14273902	14273902	14157	11	C	T	T	28	28	RRAS2	T	2	2
PSMA1	5682	broad.mit.edu	36	11	14491710	14491710	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14491710T>A	uc001mll.1	-	c.544A>T	c.(544-546)ATG>TTG	p.M182L	PSMA1_uc001mlj.1_Missense_Mutation_p.M151L|PSMA1_uc001mlk.1_Missense_Mutation_p.M176L	NM_148976	NP_683877	P25786	PSA1_HUMAN	proteasome alpha 1 subunit isoform 1	176					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity				0														0.460674	125.970794	126.089872	41	48	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14491710	14491710	13119	11	T	A	A	49	49	PSMA1	A	4	4
PDE3B	5140	broad.mit.edu	36	11	14623033	14623033	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14623033C>T	uc001mln.1	+	c.836C>T	c.(835-837)TCC>TTC	p.S279F	PDE3B_uc001mlm.1_Missense_Mutation_p.S279F|PSMA1_uc001mll.1_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	279					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of cAMP-mediated signaling|negative regulation of cell adhesion mediated by integrin|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														0.186441	63.164011	79.47757	33	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14623033	14623033	12059	11	C	T	T	30	30	PDE3B	T	2	2
PDE3B	5140	broad.mit.edu	36	11	14808966	14808966	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14808966A>C	uc001mln.1	+	c.1954A>C	c.(1954-1956)AAT>CAT	p.N652H		NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	652					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of cAMP-mediated signaling|negative regulation of cell adhesion mediated by integrin|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														0.176471	50.010779	61.741373	21	98	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14808966	14808966	12059	11	A	C	C	1	1	PDE3B	C	4	4
CYP2R1	120227	broad.mit.edu	36	11	14858825	14858825	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14858825G>A	uc001mlr.1	-	c.433C>T	c.(433-435)CGA>TGA	p.R145*	CYP2R1_uc001mlo.1_Intron|CYP2R1_uc001mlp.1_Nonsense_Mutation_p.R28*|CYP2R1_uc001mlq.1_Non-coding_Transcript|CYP2R1_uc001mls.1_Nonsense_Mutation_p.R90*	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R,	145					hormone biosynthetic process|oxidation-reduction process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			ovary(1)|central_nervous_system(1)	2					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	NSCLC(173;1584 2058 26117 29365 41534)								0.188406	49.264347	61.811065	26	112	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	14858825	14858825	4338	11	G	A	A	37	37	CYP2R1	A	5	1
INSC	387755	broad.mit.edu	36	11	15217148	15217148	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:15217148C>T	uc001mly.1	+	c.1486C>T	c.(1486-1488)CGT>TGT	p.R496C	INSC_uc001mlz.1_Missense_Mutation_p.R449C|INSC_uc001mma.1_Missense_Mutation_p.R449C|INSC_uc001mmb.1_Missense_Mutation_p.R449C|INSC_uc001mmc.1_Missense_Mutation_p.R407C	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	496					cell differentiation|nervous system development	cytoplasm	binding			ovary(2)|central_nervous_system(1)	3														0.188679	37.039802	46.654901	20	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15217148	15217148	8065	11	C	T	T	31	31	INSC	T	1	1
DUSP8	1850	broad.mit.edu	36	11	1535184	1535184	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1535184C>T	uc001lts.2	-	c.1018G>A	c.(1018-1020)GCT>ACT	p.A340T		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	340	Tyrosine-protein phosphatase.|Pro-rich.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.608696	37.162867	37.408667	14	9	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	Missense_Mutation	SNP	1535184	1535184	5016	11	C	T	T	27	27	DUSP8	T	1	1
PLEKHA7	144100	broad.mit.edu	36	11	16804519	16804519	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:16804519C>T	uc001mmo.1	-	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q	PLEKHA7_uc001mmn.1_Missense_Mutation_p.R64Q	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	356					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(1)	1														0.207447	81.424558	96.333603	39	149	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16804519	16804519	12487	11	C	T	T	23	23	PLEKHA7	T	1	1
PLEKHA7	144100	broad.mit.edu	36	11	16819834	16819834	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:16819834C>T	uc001mmo.1	-	c.708G>A	c.(706-708)ACG>ACA	p.T236T		NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	236	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(1)	1														0.174757	32.792949	43.069271	18	85	CC		KEEP	---	---	---	---	capture			Silent	SNP	16819834	16819834	12487	11	C	T	T	23	23	PLEKHA7	T	1	1
PLEKHA7	144100	broad.mit.edu	36	11	16829313	16829313	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:16829313C>T	uc001mmo.1	-	c.696_splice	c.e8+1	p.K232_splice		NM_175058	NP_778228			pleckstrin homology domain containing, family A						epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(1)	1														0.242857	67.652118	76.124446	34	106	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	16829313	16829313	12487	11	C	T	T	18	18	PLEKHA7	T	5	2
PIK3C2A	5286	broad.mit.edu	36	11	17067960	17067960	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17067960C>A	uc001mmq.2	-	c.4962G>T	c.(4960-4962)GAG>GAT	p.E1654D	PIK3C2A_uc009ygu.1_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2, alpha	1654	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|lung(2)|ovary(1)	7					Phosphatidylserine(DB00144)					733				0.448541	785.431965	786.944556	292	359	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17067960	17067960	12333	11	C	A	A	32	32	PIK3C2A	A	3	3
PIK3C2A	5286	broad.mit.edu	36	11	17097366	17097366	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17097366C>T	uc001mmq.2	-	c.2917G>A	c.(2917-2919)GAT>AAT	p.D973N	PIK3C2A_uc009ygu.1_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2, alpha	973					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|lung(2)|ovary(1)	7					Phosphatidylserine(DB00144)					733				0.182292	72.297899	90.51134	35	157	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17097366	17097366	12333	11	C	T	T	32	32	PIK3C2A	T	2	2
PIK3C2A	5286	broad.mit.edu	36	11	17110112	17110112	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17110112G>T	uc001mmq.2	-	c.2158C>A	c.(2158-2160)CTT>ATT	p.L720I	PIK3C2A_uc009ygu.1_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2, alpha	720					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|lung(2)|ovary(1)	7					Phosphatidylserine(DB00144)					733				0.205674	107.024708	129.767658	58	224	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17110112	17110112	12333	11	G	T	T	33	33	PIK3C2A	T	3	3
CTSD	1509	broad.mit.edu	36	11	1732737	1732737	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1732737C>T	uc001luc.1	-	c.802G>A	c.(802-804)GCC>ACC	p.A268T	CTSD_uc009yda.1_Non-coding_Transcript	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	268					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		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)			Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.242604	91.00969	101.208432	41	128	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Missense_Mutation	SNP	1732737	1732737	4191	11	C	T	T	26	26	CTSD	T	2	2
ABCC8	6833	broad.mit.edu	36	11	17371183	17371183	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17371183G>A	uc001mnc.1	-	c.4677C>T	c.(4675-4677)TTC>TTT	p.F1559F		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1559	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					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.415663	189.036737	190.069116	69	97	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Silent	SNP	17371183	17371183	59	11	G	A	A	37	37	ABCC8	A	1	1
ABCC8	6833	broad.mit.edu	36	11	17382728	17382728	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17382728A>G	uc001mnc.1	-	c.3464T>C	c.(3463-3465)GTC>GCC	p.V1155A		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1155	Helical; Name=14; (By similarity).|ABC transmembrane type-1 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					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.47561	124.977967	125.022472	39	43	AA		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Missense_Mutation	SNP	17382728	17382728	59	11	A	G	G	10	10	ABCC8	G	4	4
ABCC8	6833	broad.mit.edu	36	11	17406478	17406478	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17406478G>A	uc001mnc.1	-	c.1974C>T	c.(1972-1974)GGC>GGT	p.G658G		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	658	Cytoplasmic (By similarity).				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					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.235849	98.308078	111.66586	50	162	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Silent	SNP	17406478	17406478	59	11	G	A	A	42	42	ABCC8	A	2	2
ABCC8	6833	broad.mit.edu	36	11	17421312	17421312	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17421312G>A	uc001mnc.1	-	c.1456C>T	c.(1456-1458)CGG>TGG	p.R486W		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	486	Cytoplasmic (By similarity).|ABC transmembrane type-1 1.				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					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.389262	154.426279	156.022297	58	91	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Missense_Mutation	SNP	17421312	17421312	59	11	G	A	A	38	38	ABCC8	A	1	1
MYOD1	4654	broad.mit.edu	36	11	17697939	17697939	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17697939G>T	uc001mni.1	+	c.34G>T	c.(34-36)GAC>TAC	p.D12Y		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	12					muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3														0.184211	58.397279	76.194228	35	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17697939	17697939	10483	11	G	T	T	33	33	MYOD1	T	3	3
KCNC1	3746	broad.mit.edu	36	11	17714178	17714178	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17714178G>A	uc009yhc.1	+	c.53G>A	c.(52-54)CGC>CAC	p.R18H	KCNC1_uc001mnk.2_Missense_Mutation_p.R18H	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	18	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0														0.482759	38.346673	38.354204	14	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17714178	17714178	8319	11	G	A	A	38	38	KCNC1	A	1	1
TPH1	7166	broad.mit.edu	36	11	18011482	18011482	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18011482G>T	uc001mnp.1	-	c.317C>A	c.(316-318)CCT>CAT	p.P106H	TPH1_uc009yhe.1_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	106					aromatic amino acid family metabolic process|hormone biosynthetic process|oxidation-reduction process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)					206				0.210773	187.023286	220.063983	90	337	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18011482	18011482	16945	11	G	T	T	35	35	TPH1	T	3	3
MRGPRX3	117195	broad.mit.edu	36	11	18115573	18115573	+	Missense_Mutation	SNP	C	T	T	rs72632996	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18115573C>T	uc001mnu.1	+	c.248C>T	c.(247-249)TCG>TTG	p.S83L	MRGPRX3_uc009yhg.1_Missense_Mutation_p.S83L	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	83	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2														0.187755	87.031561	109.382029	46	199	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18115573	18115573	10161	11	C	T	T	31	31	MRGPRX3	T	1	1
MRGPRX4	117196	broad.mit.edu	36	11	18152198	18152198	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18152198C>T	uc001mnv.1	+	c.819C>T	c.(817-819)TTC>TTT	p.F273F		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	273	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.230469	140.286713	157.336988	59	197	CC		KEEP	---	---	---	---	capture			Silent	SNP	18152198	18152198	10162	11	C	T	T	32	32	MRGPRX4	T	2	2
TNNI2	7136	broad.mit.edu	36	11	1818459	1818459	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1818459G>A	uc009ydd.1	+	c.183G>A	c.(181-183)GTG>GTA	p.V61V	TNNI2_uc009ydc.1_Silent_p.V40V	NM_003282	NP_003273	P48788	TNNI2_HUMAN	troponin I, skeletal, fast	61					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.426471	73.754182	74.076318	29	39	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	Silent	SNP	1818459	1818459	16868	11	G	A	A	46	46	TNNI2	A	2	2
HPS5	11234	broad.mit.edu	36	11	18288880	18288880	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18288880G>T	uc001mod.1	-	c.461C>A	c.(460-462)ACT>AAT	p.T154N	HPS5_uc001moe.1_Missense_Mutation_p.T40N|HPS5_uc001mof.1_Missense_Mutation_p.T40N	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	154						cytosol				ovary(1)|pancreas(1)	2														0.229947	99.517181	112.029089	43	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18288880	18288880	7634	11	G	T	T	36	36	HPS5	T	3	3
LDHA	3939	broad.mit.edu	36	11	18385277	18385277	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18385277T>C	uc001mok.2	+	c.872T>C	c.(871-873)GTT>GCT	p.V291A	LDHA_uc009yhn.1_Missense_Mutation_p.V290A|LDHA_uc009yho.1_Missense_Mutation_p.V118A|LDHA_uc001mol.2_3'UTR	NM_005566	NP_005557	P00338	LDHA_HUMAN	L-lactate dehydrogenase A isoform 1	291					glycolysis|oxidation-reduction process|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)	3					NADH(DB00157)					124				0.458065	241.721256	241.957048	71	84	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18385277	18385277	9022	11	T	C	C	60	60	LDHA	C	4	4
LDHC	3948	broad.mit.edu	36	11	18416687	18416687	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18416687C>T	uc001mon.2	+	c.629C>T	c.(628-630)GCT>GTT	p.A210V	LDHC_uc001mom.2_Missense_Mutation_p.A210V|LDHC_uc009yhp.1_Missense_Mutation_p.A210V|LDHC_uc001moo.2_Missense_Mutation_p.A94V|LDHC_uc009yhq.1_Non-coding_Transcript|LDHC_uc009yhr.1_Intron	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	210					glycolysis|oxidation-reduction process	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)									0.462585	208.481562	208.661239	68	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18416687	18416687	9026	11	C	T	T	28	28	LDHC	T	2	2
LDHAL6A	160287	broad.mit.edu	36	11	18434818	18434818	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18434818G>T	uc001mop.1	+	c.15G>T	c.(13-15)AAG>AAT	p.K5N	LDHAL6A_uc001moq.1_Missense_Mutation_p.K5N	NM_144972	NP_659409	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	5					glycolysis|oxidation-reduction process	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)									0.38806	133.654965	135.13054	52	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18434818	18434818	9023	11	G	T	T	33	33	LDHAL6A	T	3	3
TMEM86A	144110	broad.mit.edu	36	11	18679973	18679973	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18679973C>A	uc001moz.1	+	c.564C>A	c.(562-564)ATC>ATA	p.I188I		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	188	Helical; (Potential).					integral to membrane				ovary(1)	1														0.209945	72.839717	86.944478	38	143	CC		KEEP	---	---	---	---	capture			Silent	SNP	18679973	18679973	16747	11	C	A	A	32	32	TMEM86A	A	3	3
ODF3	113746	broad.mit.edu	36	11	187647	187647	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:187647C>T	uc001lob.1	+	c.196C>T	c.(196-198)CCA>TCA	p.P66S	ODF3_uc001loc.2_Missense_Mutation_p.P66S	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	66					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				ovary(1)	1		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)												0.35	102.203284	104.184607	35	65	CC		KEEP	---	---	---	---	capture		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	Missense_Mutation	SNP	187647	187647	11234	11	C	T	T	22	22	ODF3	T	2	2
TNNT3	7140	broad.mit.edu	36	11	1912426	1912426	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1912426G>A	uc001luu.2	+	c.555G>A	c.(553-555)CCG>CCA	p.P185P	TNNT3_uc001lun.2_Silent_p.P81P|TNNT3_uc001lup.2_Silent_p.P183P|TNNT3_uc001luw.2_Silent_p.P177P|TNNT3_uc001luo.2_Silent_p.P177P|TNNT3_uc001luq.2_Silent_p.P177P|TNNT3_uc001lur.1_Silent_p.P177P	NM_006757	NP_006748	P45378	TNNT3_HUMAN	troponin T3, skeletal, fast isoform 1	196					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.387097	28.479904	28.829054	12	19	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	Silent	SNP	1912426	1912426	16873	11	G	A	A	38	38	TNNT3	A	1	1
ZDHHC13	54503	broad.mit.edu	36	11	19133992	19133992	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:19133992C>A	uc001mpi.1	+	c.947C>A	c.(946-948)TCT>TAT	p.S316Y	ZDHHC13_uc001mpj.1_Missense_Mutation_p.S186Y	NM_019028	NP_061901	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC domain containing 13 isoform	316					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding				0														0.175439	33.723787	45.057487	20	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19133992	19133992	18191	11	C	A	A	32	32	ZDHHC13	A	3	3
E2F8	79733	broad.mit.edu	36	11	19203455	19203455	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:19203455G>A	uc001mpm.1	-	c.2310C>T	c.(2308-2310)GTC>GTT	p.V770V	E2F8_uc009yhv.1_Non-coding_Transcript|E2F8_uc001mpn.2_Silent_p.V770V	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	770					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.239286	147.803375	165.171547	67	213	GG		KEEP	---	---	---	---	capture			Silent	SNP	19203455	19203455	5059	11	G	A	A	37	37	E2F8	A	1	1
NAV2	89797	broad.mit.edu	36	11	19870712	19870712	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:19870712G>T	uc009yhw.1	+	c.996G>T	c.(994-996)GAG>GAT	p.E332D	NAV2_uc001mpp.1_Missense_Mutation_p.E245D|NAV2_uc001mpr.2_Missense_Mutation_p.E309D	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	332						nucleus	ATP binding|helicase activity			ovary(1)|pancreas(1)	2														0.401408	143.187536	144.409642	57	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19870712	19870712	10580	11	G	T	T	33	33	NAV2	T	3	3
NAV2	89797	broad.mit.edu	36	11	19917792	19917792	+	Silent	SNP	G	A	A	rs61732468	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:19917792G>A	uc009yhw.1	+	c.2112G>A	c.(2110-2112)ACG>ACA	p.T704T	NAV2_uc001mpp.1_Silent_p.T617T|NAV2_uc001mpr.2_Silent_p.T681T	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	704						nucleus	ATP binding|helicase activity			ovary(1)|pancreas(1)	2														0.396825	68.163221	68.749301	25	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	19917792	19917792	10580	11	G	A	A	39	39	NAV2	A	1	1
RIC8A	60626	broad.mit.edu	36	11	200615	200615	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:200615C>A	uc001lof.1	+	c.771C>A	c.(769-771)CAC>CAA	p.H257Q	RIC8A_uc001log.1_Missense_Mutation_p.H257Q|RIC8A_uc001loh.1_Missense_Mutation_p.H250Q	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	257						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)												0.194366	137.549193	168.50586	69	286	CC		KEEP	---	---	---	---	capture		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	Missense_Mutation	SNP	200615	200615	13830	11	C	A	A	20	20	RIC8A	A	3	3
SIRT3	23410	broad.mit.edu	36	11	208870	208870	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:208870C>A	uc001lok.2	-	c.1141G>T	c.(1141-1143)GAA>TAA	p.E381*	SIRT3_uc001loi.2_Non-coding_Transcript|SIRT3_uc001loj.2_Nonsense_Mutation_p.E239*	NM_012239	NP_001017524	Q9NTG7	SIRT3_HUMAN	sirtuin 3 isoform a	381	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			urinary_tract(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)												0.227273	99.713881	114.754826	50	170	CC		KEEP	---	---	---	---	capture		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	Nonsense_Mutation	SNP	208870	208870	14834	11	C	A	A	32	32	SIRT3	A	5	3
INS-IGF2	723961	broad.mit.edu	36	11	2126950	2126950	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:2126950G>A	uc001lvm.1	-	c.389C>T	c.(388-390)GCG>GTG	p.A130V	IGF2_uc001lvh.1_5'UTR|INS-IGF2_uc001lvi.1_Non-coding_Transcript	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	insulin- insulin-like growth factor 2	130					glucose metabolic process	extracellular region	hormone activity				0		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)												0.463964	284.393166	284.643903	103	119	GG		KEEP	---	---	---	---	capture	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	Missense_Mutation	SNP	2126950	2126950	8064	11	G	A	A	38	38	INS-IGF2	A	1	1
ANO5	203859	broad.mit.edu	36	11	22189428	22189428	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:22189428G>A	uc001mqi.1	+	c.130G>A	c.(130-132)GAA>AAA	p.E44K	ANO5_uc001mqj.1_Missense_Mutation_p.E43K	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	44	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.23622	143.060402	159.226123	60	194	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22189428	22189428	708	11	G	A	A	33	33	ANO5	A	2	2
ANO5	203859	broad.mit.edu	36	11	22235861	22235861	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:22235861C>T	uc001mqi.1	+	c.1392C>T	c.(1390-1392)GCC>GCT	p.A464A	ANO5_uc001mqj.1_Silent_p.A463A	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	464	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.23622	65.873858	73.963295	30	97	CC		KEEP	---	---	---	---	capture			Silent	SNP	22235861	22235861	708	11	C	T	T	21	21	ANO5	T	2	2
ANO5	203859	broad.mit.edu	36	11	22252690	22252690	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:22252690G>T	uc001mqi.1	+	c.2236_splice	c.e20-1	p.A746_splice	ANO5_uc001mqj.1_Splice_Site_SNP_p.A745_splice	NM_213599	NP_998764			anoctamin 5 isoform a							chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.186813	54.606808	71.38557	34	148	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	22252690	22252690	708	11	G	T	T	35	35	ANO5	T	5	3
LUZP2	338645	broad.mit.edu	36	11	24961254	24961254	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:24961254C>T	uc001mqs.1	+	c.604C>T	c.(604-606)CAG>TAG	p.Q202*	LUZP2_uc009yif.1_Nonsense_Mutation_p.Q116*|LUZP2_uc009yig.1_Nonsense_Mutation_p.Q160*	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	202	Potential.					extracellular region				ovary(1)	1														0.436747	395.406927	396.567321	145	187	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	24961254	24961254	9463	11	C	T	T	17	17	LUZP2	T	5	2
KCNQ1	3784	broad.mit.edu	36	11	2548559	2548559	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:2548559C>T	uc001lwn.1	+	c.603C>T	c.(601-603)ATC>ATT	p.I201I	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.1_Silent_p.I74I	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	201	Helical; Name=Segment S3; (Potential).				blood circulation|membrane depolarization|muscle contraction|regulation of heart contraction|sensory perception of sound	voltage-gated potassium channel complex	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)			Bepridil(DB01244)|Indapamide(DB00808)									0.491525	167.44438	167.451714	58	60	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Silent	SNP	2548559	2548559	8387	11	C	T	T	31	31	KCNQ1	T	1	1
ANO3	63982	broad.mit.edu	36	11	26310418	26310418	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:26310418C>A	uc001mqt.2	+	c.20C>A	c.(19-21)TCC>TAC	p.S7Y		NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	7	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4												OREG0020846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.172549	70.921086	96.801189	44	211	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26310418	26310418	706	11	C	A	A	30	30	ANO3	A	3	3
ANO3	63982	broad.mit.edu	36	11	26515564	26515564	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:26515564G>T	uc001mqt.2	+	c.1012G>T	c.(1012-1014)GCA>TCA	p.A338S		NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	338	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.452471	342.870224	343.390385	119	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26515564	26515564	706	11	G	T	T	34	34	ANO3	T	3	3
ANO3	63982	broad.mit.edu	36	11	26638460	26638460	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:26638460C>T	uc001mqt.2	+	c.2839C>T	c.(2839-2841)CGA>TGA	p.R947*		NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	947	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.2125	106.402295	124.733088	51	189	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	26638460	26638460	706	11	C	T	T	19	19	ANO3	T	5	1
SLC5A12	159963	broad.mit.edu	36	11	26649289	26649289	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:26649289A>G	uc001mra.2	-	c.1793T>C	c.(1792-1794)GTT>GCT	p.V598A	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	598	Cytoplasmic (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)	1														0.193206	223.299612	264.774974	91	380	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26649289	26649289	15161	11	A	G	G	2	2	SLC5A12	G	4	4
SLC5A12	159963	broad.mit.edu	36	11	26681786	26681786	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:26681786A>G	uc001mra.2	-	c.689T>C	c.(688-690)GTA>GCA	p.V230A	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.2_Missense_Mutation_p.V230A	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	230	Extracellular (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)	1														0.427966	333.458673	334.521803	101	135	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26681786	26681786	15161	11	A	G	G	14	14	SLC5A12	G	4	4
NLRP6	171389	broad.mit.edu	36	11	270493	270493	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:270493C>T	uc001loq.1	+	c.759C>T	c.(757-759)ATC>ATT	p.I253I	NLRP6_uc009ybu.1_Silent_p.I253I	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	253	NACHT.					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)								236				0.225	20.553667	23.333326	9	31	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	270493	270493	10884	11	C	T	T	30	30	NLRP6	T	2	2
KIF18A	81930	broad.mit.edu	36	11	28001956	28001956	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:28001956G>A	uc001msc.2	-	c.2522C>T	c.(2521-2523)TCG>TTG	p.S841L		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	841					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2														0.162602	33.214473	46.534577	20	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28001956	28001956	8591	11	G	A	A	37	37	KIF18A	A	1	1
KIF18A	81930	broad.mit.edu	36	11	28060984	28060984	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:28060984G>A	uc001msc.2	-	c.1257C>T	c.(1255-1257)ATC>ATT	p.I419I		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	419	Potential.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2														0.375	104.899232	106.325541	39	65	GG		KEEP	---	---	---	---	capture			Silent	SNP	28060984	28060984	8591	11	G	A	A	37	37	KIF18A	A	1	1
METT5D1	196074	broad.mit.edu	36	11	28091494	28091494	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:28091494G>T	uc001msh.2	+	c.37G>T	c.(37-39)GAA>TAA	p.E13*	METT5D1_uc001msg.2_Nonsense_Mutation_p.E13*|METT5D1_uc001mse.2_Nonsense_Mutation_p.E13*|METT5D1_uc001msf.1_Non-coding_Transcript	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	13							methyltransferase activity				0														0.325581	105.004412	108.487079	42	87	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	28091494	28091494	9881	11	G	T	T	33	33	METT5D1	T	5	3
ATHL1	80162	broad.mit.edu	36	11	282601	282601	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:282601A>G	uc001lot.2	+	c.551A>G	c.(550-552)GAC>GGC	p.D184G	ATHL1_uc001lor.2_Missense_Mutation_p.D184G|ATHL1_uc001los.1_Missense_Mutation_p.D361G|ATHL1_uc001lou.2_5'Flank|ATHL1_uc001lov.2_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	361					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(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)												0.441441	162.882942	163.209784	49	62	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	282601	282601	1123	11	A	G	G	10	10	ATHL1	G	4	4
NAP1L4	4676	broad.mit.edu	36	11	2947694	2947694	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:2947694G>A	uc001lxc.1	-	c.449C>T	c.(448-450)ACG>ATG	p.T150M		NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	150					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)												0.402439	177.303428	178.671284	66	98	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	Missense_Mutation	SNP	2947694	2947694	10555	11	G	A	A	40	40	NAP1L4	A	1	1
KCNA4	3739	broad.mit.edu	36	11	29990311	29990311	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:29990311C>T	uc001msk.1	-	c.491G>A	c.(490-492)GGC>GAC	p.G164D	KCNA4_uc009yjh.1_Missense_Mutation_p.G164D	NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	164	Poly-Gly.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.15625	36.965657	55.117173	25	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29990311	29990311	8310	11	C	T	T	26	26	KCNA4	T	2	2
KCNA4	3739	broad.mit.edu	36	11	29990555	29990555	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:29990555G>A	uc001msk.1	-	c.247C>T	c.(247-249)CGG>TGG	p.R83W	KCNA4_uc009yjh.1_Missense_Mutation_p.R83W	NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	83						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.491228	234.86303	234.874977	84	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29990555	29990555	8310	11	G	A	A	37	37	KCNA4	A	1	1
DCDC1	341019	broad.mit.edu	36	11	31080388	31080388	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:31080388C>T	uc001msu.1	-	c.752G>A	c.(751-753)GGA>GAA	p.G251E				P59894	DCDC1_HUMAN	cDNA FLJ44078 fis, clone TESTI4039038.	Error:Variant_position_missing_in_P59894_after_alignment					intracellular signal transduction						0	Lung SC(675;0.225)													0.3	15.841347	16.556612	6	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31080388	31080388	4455	11	C	T	T	30	30	DCDC1	T	2	2
ELP4	26610	broad.mit.edu	36	11	31605296	31605296	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:31605296A>G	uc001mtb.1	+	c.717A>G	c.(715-717)GGA>GGG	p.G239G	ELP4_uc001mta.1_Non-coding_Transcript|ELP4_uc001mtc.1_Silent_p.G239G	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	239					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			ovary(1)	1	Lung SC(675;0.225)													0.2	84.068457	98.28541	34	136	AA		KEEP	---	---	---	---	capture			Silent	SNP	31605296	31605296	5274	11	A	G	G	12	12	ELP4	G	4	4
MRGPRE	116534	broad.mit.edu	36	11	3206282	3206282	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3206282G>A	uc001lxq.2	-	c.321C>T	c.(319-321)ATC>ATT	p.I107I	MRGPRE_uc009ydy.1_Silent_p.I107I	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	107	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)												0.302632	53.102619	55.744284	23	53	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	Silent	SNP	3206282	3206282	10156	11	G	A	A	37	37	MRGPRE	A	1	1
MRGPRE	116534	broad.mit.edu	36	11	3206541	3206541	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3206541G>A	uc001lxq.2	-	c.62C>T	c.(61-63)GCC>GTC	p.A21V	MRGPRE_uc009ydy.1_Missense_Mutation_p.A21V	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	21	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)												0.359375	112.577635	114.778419	46	82	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	3206541	3206541	10156	11	G	A	A	42	42	MRGPRE	A	2	2
EIF3M	10480	broad.mit.edu	36	11	32567152	32567152	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32567152C>T	uc001mtu.1	+	c.333C>T	c.(331-333)CAC>CAT	p.H111H		NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	111						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)	2	Breast(20;0.109)													0.235294	68.62548	77.347004	32	104	CC		KEEP	---	---	---	---	capture			Silent	SNP	32567152	32567152	5214	11	C	T	T	19	19	EIF3M	T	1	1
CCDC73	493860	broad.mit.edu	36	11	32633028	32633028	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32633028C>T	uc001mtv.1	-	c.712G>A	c.(712-714)GAA>AAA	p.E238K	CCDC73_uc001mtw.1_Missense_Mutation_p.E238K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	238	Potential.									ovary(1)	1	Breast(20;0.112)													0.241379	48.022848	53.339225	21	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32633028	32633028	2969	11	C	T	T	32	32	CCDC73	T	2	2
QSER1	79832	broad.mit.edu	36	11	32906228	32906228	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32906228C>T	uc001mty.1	+	c.80C>T	c.(79-81)GCT>GTT	p.A27V	QSER1_uc001mtz.1_Missense_Mutation_p.A27V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	27										ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.389344	282.16248	284.782367	95	149	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32906228	32906228	13340	11	C	T	T	28	28	QSER1	T	2	2
QSER1	79832	broad.mit.edu	36	11	32910567	32910567	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32910567C>T	uc001mty.1	+	c.800C>T	c.(799-801)GCG>GTG	p.A267V	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	267	Ser-rich.									ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.40625	213.209002	214.684168	78	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32910567	32910567	13340	11	C	T	T	27	27	QSER1	T	1	1
QSER1	79832	broad.mit.edu	36	11	32911020	32911020	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32911020C>T	uc001mty.1	+	c.1253C>T	c.(1252-1254)TCT>TTT	p.S418F	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	418	Ser-rich.									ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.43956	352.347944	353.219428	120	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32911020	32911020	13340	11	C	T	T	32	32	QSER1	T	2	2
QSER1	79832	broad.mit.edu	36	11	32911942	32911942	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32911942C>T	uc001mty.1	+	c.2175C>T	c.(2173-2175)GTC>GTT	p.V725V	QSER1_uc001mtz.1_Silent_p.V486V|QSER1_uc001mua.2_Silent_p.V230V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	725	Gln-rich.									ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.46473	327.067687	327.329535	112	129	CC		KEEP	---	---	---	---	capture			Silent	SNP	32911942	32911942	13340	11	C	T	T	30	30	QSER1	T	2	2
QSER1	79832	broad.mit.edu	36	11	32936071	32936071	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32936071C>T	uc001mty.1	+	c.4445C>T	c.(4444-4446)TCC>TTC	p.S1482F	QSER1_uc001mtz.1_Missense_Mutation_p.S1243F|QSER1_uc001mua.2_Missense_Mutation_p.S987F	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1482										ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.255556	47.631552	52.557745	23	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32936071	32936071	13340	11	C	T	T	30	30	QSER1	T	2	2
QSER1	79832	broad.mit.edu	36	11	32954545	32954545	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32954545C>A	uc001mty.1	+	c.5157C>A	c.(5155-5157)CTC>CTA	p.L1719L	QSER1_uc001mtz.1_Silent_p.L1480L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1719										ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.18408	64.05118	82.884078	37	164	CC		KEEP	---	---	---	---	capture			Silent	SNP	32954545	32954545	13340	11	C	A	A	32	32	QSER1	A	3	3
CSTF3	1479	broad.mit.edu	36	11	33120055	33120055	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:33120055C>A	uc001muh.1	-	c.81G>T	c.(79-81)GAG>GAT	p.E27D	CSTF3_uc001mui.1_Missense_Mutation_p.E27D|CSTF3_uc001muj.1_Missense_Mutation_p.E27D	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	27					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0														0.45283	261.875183	262.284856	96	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33120055	33120055	4127	11	C	A	A	32	32	CSTF3	A	3	3
HIPK3	10114	broad.mit.edu	36	11	33326939	33326939	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:33326939G>T	uc001mul.1	+	c.2665G>T	c.(2665-2667)GAA>TAA	p.E889*	HIPK3_uc001mum.1_Nonsense_Mutation_p.E868*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.E868*	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	889	Interaction with FAS (By similarity).|Interaction with AR (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|ovary(1)|pancreas(1)	3										376				0.378947	92.266408	93.491393	36	59	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	33326939	33326939	7403	11	G	T	T	33	33	HIPK3	T	5	3
ZNF195	7748	broad.mit.edu	36	11	3337154	3337154	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3337154C>A	uc001lxt.1	-	c.1660G>T	c.(1660-1662)GAA>TAA	p.E554*	ZNF195_uc001lxs.1_Nonsense_Mutation_p.E482*|ZNF195_uc009ydz.1_Nonsense_Mutation_p.E509*|ZNF195_uc001lxu.1_Nonsense_Mutation_p.E486*|ZNF195_uc001lxv.1_Nonsense_Mutation_p.E531*	NM_007152	NP_009083	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 3	554	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)												0.264935	223.340326	242.597256	102	283	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	Nonsense_Mutation	SNP	3337154	3337154	18349	11	C	A	A	32	32	ZNF195	A	5	3
C11orf41	25758	broad.mit.edu	36	11	33523069	33523069	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:33523069T>C	uc001mup.2	+	c.2081T>C	c.(2080-2082)GTC>GCC	p.V694A	C11orf41_uc001mun.1_Missense_Mutation_p.V694A	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	688						integral to membrane				ovary(2)	2														0.444444	101.38982	101.583206	32	40	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33523069	33523069	1679	11	T	C	C	58	58	C11orf41	C	4	4
C11orf41	25758	broad.mit.edu	36	11	33530294	33530294	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:33530294G>T	uc001mup.2	+	c.2913G>T	c.(2911-2913)CAG>CAT	p.Q971H	C11orf41_uc001mun.1_Missense_Mutation_p.Q971H	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	965	Potential.					integral to membrane				ovary(2)	2														0.411765	36.439344	36.671551	14	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33530294	33530294	1679	11	G	T	T	33	33	C11orf41	T	3	3
C11orf41	25758	broad.mit.edu	36	11	33624087	33624087	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:33624087C>T	uc001mup.2	+	c.4816C>T	c.(4816-4818)CGG>TGG	p.R1606W		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1600						integral to membrane				ovary(2)	2														0.424242	38.543933	38.709181	14	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33624087	33624087	1679	11	C	T	T	27	27	C11orf41	T	1	1
FBXO3	26273	broad.mit.edu	36	11	33725354	33725354	+	Nonsense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:33725354A>C	uc001muz.1	-	c.1137T>G	c.(1135-1137)TAT>TAG	p.Y379*	FBXO3_uc001muy.1_Nonsense_Mutation_p.Y266*|FBXO3_uc009ykb.1_Non-coding_Transcript|FBXO3_uc001mva.1_Nonsense_Mutation_p.Y379*|FBXO3_uc001mvb.1_Nonsense_Mutation_p.Y374*	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	379	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)												0.478495	292.868636	292.943061	89	97	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	Nonsense_Mutation	SNP	33725354	33725354	5976	11	A	C	C	4	4	FBXO3	C	5	4
FBXO3	26273	broad.mit.edu	36	11	33728667	33728667	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:33728667C>T	uc001muz.1	-	c.926G>A	c.(925-927)CGA>CAA	p.R309Q	FBXO3_uc001muy.1_Missense_Mutation_p.R196Q|FBXO3_uc009ykb.1_Non-coding_Transcript|FBXO3_uc001mva.1_Missense_Mutation_p.R309Q|FBXO3_uc001mvb.1_Missense_Mutation_p.R304Q	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	309	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)												0.355263	144.801963	147.609788	54	98	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	Missense_Mutation	SNP	33728667	33728667	5976	11	C	T	T	31	31	FBXO3	T	1	1
FBXO3	26273	broad.mit.edu	36	11	33752548	33752548	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:33752548G>T	uc001muz.1	-	c.72C>A	c.(70-72)ATC>ATA	p.I24I	FBXO3_uc001muy.1_5'Flank|FBXO3_uc009ykb.1_Non-coding_Transcript|FBXO3_uc001mva.1_Silent_p.I24I|FBXO3_uc001mvb.1_Silent_p.I24I	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	24	F-box.				proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)												0.206897	11.331827	13.643318	6	23	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	Silent	SNP	33752548	33752548	5976	11	G	T	T	33	33	FBXO3	T	3	3
CAPRIN1	4076	broad.mit.edu	36	11	34054374	34054374	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:34054374A>C	uc001mvh.1	+	c.382A>C	c.(382-384)AAG>CAG	p.K128Q	CAPRIN1_uc001mvi.1_Missense_Mutation_p.K128Q|CAPRIN1_uc001mvj.1_Missense_Mutation_p.K47Q|CAPRIN1_uc001mvg.1_Missense_Mutation_p.K128Q	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	128	Potential.				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)												0.282443	105.122109	110.690658	37	94	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34054374	34054374	2754	11	A	C	C	1	1	CAPRIN1	C	4	4
ABTB2	25841	broad.mit.edu	36	11	34140827	34140827	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:34140827G>A	uc001mvl.1	-	c.1532C>T	c.(1531-1533)TCG>TTG	p.S511L		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing	511							DNA binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)												0.413223	134.852412	135.640167	50	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34140827	34140827	104	11	G	A	A	37	37	ABTB2	A	1	1
CAT	847	broad.mit.edu	36	11	34434874	34434874	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:34434874A>G	uc001mvm.1	+	c.990A>G	c.(988-990)GAA>GAG	p.E330E	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	330					hydrogen peroxide catabolic process|negative regulation of apoptosis|oxidation-reduction process|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)			Fomepizole(DB01213)									0.194175	95.289197	113.261655	40	166	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Silent	SNP	34434874	34434874	2805	11	A	G	G	2	2	CAT	G	4	4
CAT	847	broad.mit.edu	36	11	34449113	34449113	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:34449113C>T	uc001mvm.1	+	c.1467C>T	c.(1465-1467)TAC>TAT	p.Y489Y	CAT_uc001mvn.1_Silent_p.Y98Y	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	489					hydrogen peroxide catabolic process|negative regulation of apoptosis|oxidation-reduction process|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)			Fomepizole(DB01213)									0.245946	181.056935	202.232269	91	279	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Silent	SNP	34449113	34449113	2805	11	C	T	T	19	19	CAT	T	1	1
CD44	960	broad.mit.edu	36	11	35179242	35179242	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:35179242G>T	uc001mvu.1	+	c.960G>T	c.(958-960)CAG>CAT	p.Q320H	CD44_uc001mvv.1_Missense_Mutation_p.Q277H|CD44_uc001mvw.1_Intron|CD44_uc001mvx.1_Intron|CD44_uc001mvy.1_Intron|CD44_uc001mwc.2_Intron|CD44_uc009ykh.1_Intron|CD44_uc001mwb.1_Intron|CD44_uc001mvz.1_Intron|CD44_uc001mwa.1_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	320	Extracellular (Potential).|Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)			Hyaluronidase(DB00070)					401				0.371831	331.271341	336.40717	132	223	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(6;0.00731)		Missense_Mutation	SNP	35179242	35179242	3145	11	G	T	T	33	33	CD44	T	3	3
CD44	960	broad.mit.edu	36	11	35189386	35189386	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:35189386G>T	uc001mvu.1	+	c.1624G>T	c.(1624-1626)GGT>TGT	p.G542C	CD44_uc001mvv.1_Missense_Mutation_p.G499C|CD44_uc001mvw.1_Missense_Mutation_p.G293C|CD44_uc001mvx.1_Intron|CD44_uc001mvy.1_Intron|CD44_uc001mwc.2_Missense_Mutation_p.G229C|CD44_uc009ykh.1_Intron|CD44_uc001mwb.1_Non-coding_Transcript|CD44_uc001mvz.1_Missense_Mutation_p.G106C|CD44_uc001mwa.1_Missense_Mutation_p.G70C	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	542	Extracellular (Potential).|Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)			Hyaluronidase(DB00070)					401				0.199005	75.668584	92.632638	40	161	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(6;0.00731)		Missense_Mutation	SNP	35189386	35189386	3145	11	G	T	T	35	35	CD44	T	3	3
ART1	417	broad.mit.edu	36	11	3637744	3637744	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3637744G>A	uc001lye.1	+	c.419G>A	c.(418-420)CGC>CAC	p.R140H	ART1_uc009yeb.1_Missense_Mutation_p.R140H	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	140					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)			Becaplermin(DB00102)									0.238095	50.171742	56.721672	25	80	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Missense_Mutation	SNP	3637744	3637744	1015	11	G	A	A	38	38	ART1	A	1	1
PRR5L	79899	broad.mit.edu	36	11	36379263	36379263	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:36379263G>A	uc001mwo.2	+	c.16G>A	c.(16-18)GCT>ACT	p.A6T	PRR5L_uc001mwp.1_Missense_Mutation_p.A6T|PRR5L_uc009ykk.1_Intron	NM_024841	NP_079117	Q6MZQ0	PRR5L_HUMAN	protor-2	6										ovary(1)	1														0.475728	122.932612	122.986598	49	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36379263	36379263	13051	11	G	A	A	38	38	PRR5L	A	1	1
CHRNA10	57053	broad.mit.edu	36	11	3644095	3644095	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3644095G>A	uc001lyf.1	-	c.1171C>T	c.(1171-1173)CGC>TGC	p.R391C		NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	391	Cytoplasmic (Potential).				regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)			Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	Melanoma(153;17 1869 2949 7120 36888)								0.241379	95.951467	106.582324	42	132	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Missense_Mutation	SNP	3644095	3644095	3516	11	G	A	A	39	39	CHRNA10	A	1	1
CHRNA10	57053	broad.mit.edu	36	11	3645523	3645523	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3645523C>T	uc001lyf.1	-	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	137	Extracellular (Potential).				regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)			Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	Melanoma(153;17 1869 2949 7120 36888)								0.352941	13.842123	14.167472	6	11	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Missense_Mutation	SNP	3645523	3645523	3516	11	C	T	T	27	27	CHRNA10	T	1	1
NUP98	4928	broad.mit.edu	36	11	3654330	3654330	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3654330G>A	uc001lyh.1	-	c.5170C>T	c.(5170-5172)CGC>TGC	p.R1724C	NUP98_uc001lyg.1_Missense_Mutation_p.R689C|NUP98_uc001lyi.1_Missense_Mutation_p.R1650C	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1741					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(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)								613				0.404255	157.0893	158.205378	57	84	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	Missense_Mutation	SNP	3654330	3654330	11178	11	G	A	A	37	37	NUP98	A	1	1
RAG1	5896	broad.mit.edu	36	11	36552960	36552960	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:36552960G>T	uc001mwu.2	+	c.1530G>T	c.(1528-1530)GAG>GAT	p.E510D	RAG1_uc001mwt.2_Non-coding_Transcript|RAG1_uc009ykl.1_Missense_Mutation_p.E510D	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	510					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4	all_lung(20;0.226)	all_hematologic(20;0.107)				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)				117				0.174286	98.137382	133.21859	61	289	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36552960	36552960	13463	11	G	T	T	33	33	RAG1	T	3	3
RAG2	5897	broad.mit.edu	36	11	36571243	36571243	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:36571243G>A	uc001mwv.2	-	c.1052C>T	c.(1051-1053)GCT>GTT	p.A351V	RAG1_uc001mwt.2_Non-coding_Transcript|RAG2_uc009ykm.1_Missense_Mutation_p.A351V|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	351					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_lung(20;0.226)	all_hematologic(20;0.00756)												0.501618	479.710918	479.711566	155	154	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36571243	36571243	13465	11	G	A	A	34	34	RAG2	A	2	2
RAG2	5897	broad.mit.edu	36	11	36571521	36571521	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:36571521G>T	uc001mwv.2	-	c.774C>A	c.(772-774)GTC>GTA	p.V258V	RAG2_uc009ykm.1_Silent_p.V258V|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	258					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_lung(20;0.226)	all_hematologic(20;0.00756)												0.478261	238.864793	238.941602	88	96	GG		KEEP	---	---	---	---	capture			Silent	SNP	36571521	36571521	13465	11	G	T	T	33	33	RAG2	T	3	3
NUP98	4928	broad.mit.edu	36	11	3661108	3661108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3661108G>A	uc001lyh.1	-	c.4816C>T	c.(4816-4818)CGA>TGA	p.R1606*	NUP98_uc001lyg.1_Nonsense_Mutation_p.R571*|NUP98_uc001lyi.1_Nonsense_Mutation_p.R1532*	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1623					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(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)								613				0.244186	92.877166	103.127487	42	130	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	Nonsense_Mutation	SNP	3661108	3661108	11178	11	G	A	A	38	38	NUP98	A	5	1
NUP98	4928	broad.mit.edu	36	11	3661211	3661211	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3661211C>T	uc001lyh.1	-	c.4713G>A	c.(4711-4713)CGG>CGA	p.R1571R	NUP98_uc001lyg.1_Silent_p.R536R|NUP98_uc001lyi.1_Silent_p.R1497R	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1588					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(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)								613				0.426136	211.329513	212.157688	75	101	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	Silent	SNP	3661211	3661211	11178	11	C	T	T	26	26	NUP98	T	2	2
NUP98	4928	broad.mit.edu	36	11	3669237	3669237	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3669237G>T	uc001lyh.1	-	c.4370C>A	c.(4369-4371)TCT>TAT	p.S1457Y	NUP98_uc001lyg.1_Missense_Mutation_p.S422Y|NUP98_uc001lyi.1_Missense_Mutation_p.S1457Y	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1474					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(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)								613				0.401274	162.976293	164.318839	63	94	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	Missense_Mutation	SNP	3669237	3669237	11178	11	G	T	T	33	33	NUP98	T	3	3
NUP98	4928	broad.mit.edu	36	11	3677050	3677050	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3677050G>T	uc001lyh.1	-	c.3847C>A	c.(3847-3849)CTG>ATG	p.L1283M	NUP98_uc001lyg.1_Missense_Mutation_p.L248M|NUP98_uc001lyi.1_Missense_Mutation_p.L1283M	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1300					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(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)								613				0.232057	196.62595	224.146183	97	321	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	Missense_Mutation	SNP	3677050	3677050	11178	11	G	T	T	33	33	NUP98	T	3	3
NUP98	4928	broad.mit.edu	36	11	3697286	3697286	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3697286G>A	uc001lyh.1	-	c.2331C>T	c.(2329-2331)ATC>ATT	p.I777I	NUP98_uc001lyi.1_Silent_p.I777I|NUP98_uc001lyj.1_Silent_p.I777I|NUP98_uc001lyk.1_Silent_p.I794I	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	794	Peptidase S59.				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(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)								613				0.434426	302.80316	303.719631	106	138	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	Silent	SNP	3697286	3697286	11178	11	G	A	A	41	41	NUP98	A	2	2
SIGIRR	59307	broad.mit.edu	36	11	398102	398102	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:398102C>T	uc001lpd.1	-	c.311G>A	c.(310-312)AGC>AAC	p.S104N	SIGIRR_uc001lpe.1_Missense_Mutation_p.S104N|SIGIRR_uc001lpf.1_Missense_Mutation_p.S104N|SIGIRR_uc001lpg.2_Missense_Mutation_p.S104N	NM_021805	NP_068577	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	104	Ig-like C2-type.|Extracellular (Potential).				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		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)												0.215259	165.63026	193.098806	79	288	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	398102	398102	14799	11	C	T	T	28	28	SIGIRR	T	2	2
LRRC4C	57689	broad.mit.edu	36	11	40092920	40092920	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:40092920G>A	uc001mxa.1	-	c.1499C>T	c.(1498-1500)TCG>TTG	p.S500L	LRRC4C_uc001mxc.1_Missense_Mutation_p.S496L|LRRC4C_uc001mxd.1_Missense_Mutation_p.S496L|LRRC4C_uc001mxb.1_Missense_Mutation_p.S496L|LRRC4C_uc009ykn.1_Missense_Mutation_p.S500L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand	500					regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5		all_lung(304;0.0575)|Lung NSC(402;0.138)												0.411215	122.877727	123.614864	44	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40092920	40092920	9383	11	G	A	A	37	37	LRRC4C	A	1	1
STIM1	6786	broad.mit.edu	36	11	4061256	4061256	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4061256G>A	uc001lyv.1	+	c.1426G>A	c.(1426-1428)GAC>AAC	p.D476N	STIM1_uc009yef.1_Missense_Mutation_p.D476N|STIM1_uc009yeg.1_Missense_Mutation_p.D303N	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	476	Cytoplasmic (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)												0.216667	54.378341	63.270395	26	94	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	Missense_Mutation	SNP	4061256	4061256	15803	11	G	A	A	37	37	STIM1	A	1	1
STIM1	6786	broad.mit.edu	36	11	4069465	4069465	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4069465G>T	uc001lyv.1	+	c.1919G>T	c.(1918-1920)CGA>CTA	p.R640L	STIM1_uc009yef.1_3'UTR|STIM1_uc009yeg.1_Missense_Mutation_p.R467L	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	640	Cytoplasmic (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)												0.253012	135.999137	149.812222	63	186	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	Missense_Mutation	SNP	4069465	4069465	15803	11	G	T	T	37	37	STIM1	T	3	3
RRM1	6240	broad.mit.edu	36	11	4097709	4097709	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4097709G>A	uc001lyw.2	+	c.851G>A	c.(850-852)CGA>CAA	p.R284Q	RRM1_uc009yei.1_Missense_Mutation_p.R244Q|RRM1_uc009yej.1_Missense_Mutation_p.R62Q	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	284					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|oxidation-reduction process	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)			Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)								0.197674	100.760778	122.736941	51	207	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Missense_Mutation	SNP	4097709	4097709	14161	11	G	A	A	37	37	RRM1	A	1	1
RRM1	6240	broad.mit.edu	36	11	4099411	4099411	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4099411G>A	uc001lyw.2	+	c.878G>A	c.(877-879)CGT>CAT	p.R293H	RRM1_uc009yei.1_Missense_Mutation_p.R253H|RRM1_uc009yej.1_Missense_Mutation_p.R71H	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	293					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|oxidation-reduction process	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)			Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)								0.52381	222.766798	222.838781	77	70	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Missense_Mutation	SNP	4099411	4099411	14161	11	G	A	A	40	40	RRM1	A	1	1
TTC17	55761	broad.mit.edu	36	11	43337175	43337175	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:43337175C>T	uc001mxi.1	+	c.95C>T	c.(94-96)GCG>GTG	p.A32V	TTC17_uc001mxh.2_Missense_Mutation_p.A32V	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	32							binding			ovary(5)	5														0.225806	13.608697	15.75028	7	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43337175	43337175	17238	11	C	T	T	27	27	TTC17	T	1	1
TTC17	55761	broad.mit.edu	36	11	43392888	43392888	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:43392888C>T	uc001mxi.1	+	c.2237C>T	c.(2236-2238)TCT>TTT	p.S746F	TTC17_uc001mxh.2_Missense_Mutation_p.S746F|TTC17_uc001mxj.2_Missense_Mutation_p.S516F	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	746							binding			ovary(5)	5														0.220588	69.570196	79.351224	30	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43392888	43392888	17238	11	C	T	T	32	32	TTC17	T	2	2
TTC17	55761	broad.mit.edu	36	11	43422190	43422190	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:43422190C>A	uc001mxi.1	+	c.2520C>A	c.(2518-2520)TTC>TTA	p.F840L	TTC17_uc001mxh.2_Missense_Mutation_p.F897L|TTC17_uc001mxj.2_Missense_Mutation_p.F667L|TTC17_uc001mxk.1_Missense_Mutation_p.F78L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	840							binding			ovary(5)	5														0.226667	107.996449	123.440452	51	174	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43422190	43422190	17238	11	C	A	A	30	30	TTC17	A	3	3
TTC17	55761	broad.mit.edu	36	11	43428268	43428268	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:43428268C>T	uc001mxi.1	+	c.2847C>T	c.(2845-2847)TGC>TGT	p.C949C	TTC17_uc001mxk.1_Silent_p.C187C|TTC17_uc001mxl.1_Silent_p.C5C	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	949							binding			ovary(5)	5														0.256757	164.21404	180.13406	76	220	CC		KEEP	---	---	---	---	capture			Silent	SNP	43428268	43428268	17238	11	C	T	T	25	25	TTC17	T	2	2
ALKBH3	221120	broad.mit.edu	36	11	43870193	43870193	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:43870193A>G	uc001mxs.1	+	c.397A>G	c.(397-399)ACA>GCA	p.T133A	ALKBH3_uc009ykp.1_Intron|ALKBH3_uc001mxt.1_Intron|ALKBH3_uc009ykq.1_5'UTR	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3	133					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)									0.432203	177.020783	177.490889	51	67	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43870193	43870193	531	11	A	G	G	14	14	ALKBH3	G	4	4
ACCSL	390110	broad.mit.edu	36	11	44036451	44036451	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44036451G>T	uc001mxw.1	+	c.1336G>T	c.(1336-1338)GAC>TAC	p.D446Y		NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	446							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5														0.208955	56.71797	67.235304	28	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44036451	44036451	135	11	G	T	T	45	45	ACCSL	T	3	3
ACCS	84680	broad.mit.edu	36	11	44045844	44045844	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44045844G>T	uc009yks.1	+	c.91G>T	c.(91-93)GAT>TAT	p.D31Y	ACCS_uc001mxx.2_Missense_Mutation_p.D31Y	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	31							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						Esophageal Squamous(158;148 1889 8077 23160 41213)								0.245714	90.631179	100.944463	43	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44045844	44045844	134	11	G	T	T	33	33	ACCS	T	3	3
ACCS	84680	broad.mit.edu	36	11	44051585	44051585	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44051585G>A	uc009yks.1	+	c.361G>A	c.(361-363)GAC>AAC	p.D121N	ACCS_uc001mxx.2_Missense_Mutation_p.D121N	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	121							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						Esophageal Squamous(158;148 1889 8077 23160 41213)								0.5	39.803363	39.803363	15	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44051585	44051585	134	11	G	A	A	37	37	ACCS	A	1	1
ACCS	84680	broad.mit.edu	36	11	44056034	44056034	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44056034G>A	uc009yks.1	+	c.718G>A	c.(718-720)GAA>AAA	p.E240K	ACCS_uc001mxx.2_Missense_Mutation_p.E240K	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	240							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						Esophageal Squamous(158;148 1889 8077 23160 41213)								0.217391	45.14647	51.924555	20	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44056034	44056034	134	11	G	A	A	33	33	ACCS	A	2	2
EXT2	2132	broad.mit.edu	36	11	44105068	44105068	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44105068C>A	uc001mya.1	+	c.1165C>A	c.(1165-1167)CTT>ATT	p.L389I	EXT2_uc001mxy.1_Missense_Mutation_p.L369I|EXT2_uc001mxz.1_Missense_Mutation_p.L356I|EXT2_uc009ykt.1_Missense_Mutation_p.L356I	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	356	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity				0										271				0.448925	453.812577	454.665997	167	205	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44105068	44105068	5518	11	C	A	A	32	32	EXT2	A	3	3
EXT2	2132	broad.mit.edu	36	11	44149864	44149864	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44149864C>A	uc001mya.1	+	c.1400C>A	c.(1399-1401)GCT>GAT	p.A467D	EXT2_uc001mxy.1_Missense_Mutation_p.A447D|EXT2_uc001mxz.1_Missense_Mutation_p.A434D|EXT2_uc009ykt.1_Missense_Mutation_p.A444D	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	434	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity				0										271				0.24147	201.449291	224.750677	92	289	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44149864	44149864	5518	11	C	A	A	28	28	EXT2	A	3	3
EXT2	2132	broad.mit.edu	36	11	44176125	44176125	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44176125G>T	uc001mya.1	+	c.1575G>T	c.(1573-1575)CAG>CAT	p.Q525H	EXT2_uc001mxy.1_Missense_Mutation_p.Q505H|EXT2_uc001mxz.1_Missense_Mutation_p.Q492H|EXT2_uc009ykt.1_Missense_Mutation_p.Q502H	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	492	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity				0										271				0.475177	176.02789	176.108374	67	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44176125	44176125	5518	11	G	T	T	33	33	EXT2	T	3	3
EXT2	2132	broad.mit.edu	36	11	44212277	44212277	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44212277G>T	uc001mya.1	+	c.1942G>T	c.(1942-1944)GAT>TAT	p.D648Y	EXT2_uc001mxy.1_Missense_Mutation_p.D628Y|EXT2_uc001mxz.1_Missense_Mutation_p.D615Y|EXT2_uc009ykt.1_Missense_Mutation_p.D625Y	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	615	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity				0										271				0.213904	76.778715	90.937153	40	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44212277	44212277	5518	11	G	T	T	41	41	EXT2	T	3	3
ALX4	60529	broad.mit.edu	36	11	44243169	44243169	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44243169G>A	uc001myb.1	-	c.1047C>T	c.(1045-1047)TTC>TTT	p.F349F		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	349					hair follicle development		transcription regulator activity				0														0.40625	105.398929	106.138075	39	57	GG		KEEP	---	---	---	---	capture			Silent	SNP	44243169	44243169	561	11	G	A	A	41	41	ALX4	A	2	2
ALX4	60529	broad.mit.edu	36	11	44253631	44253631	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44253631G>A	uc001myb.1	-	c.620C>T	c.(619-621)TCA>TTA	p.S207L		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	207					hair follicle development		transcription regulator activity				0														0.482828	679.945961	680.074879	239	256	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44253631	44253631	561	11	G	A	A	45	45	ALX4	A	2	2
OR52K2	119774	broad.mit.edu	36	11	4427553	4427553	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4427553G>T	uc001lyz.1	+	c.408G>T	c.(406-408)AAG>AAT	p.K136N		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)												0.339623	178.101318	182.93787	72	140	GG		KEEP	---	---	---	---	capture		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4427553	4427553	11534	11	G	T	T	35	35	OR52K2	T	3	3
OR52K2	119774	broad.mit.edu	36	11	4427674	4427674	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4427674G>A	uc001lyz.1	+	c.529G>A	c.(529-531)GCT>ACT	p.A177T		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	177	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)												0.449219	314.387934	314.962243	115	141	GG		KEEP	---	---	---	---	capture		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4427674	4427674	11534	11	G	A	A	38	38	OR52K2	A	1	1
PRDM11	56981	broad.mit.edu	36	11	45074025	45074025	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45074025G>T	uc001myo.1	+	c.93G>T	c.(91-93)GAG>GAT	p.E31D		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	31											0						NSCLC(118;1511 1736 6472 36603 43224)								0.252747	47.770154	52.831923	23	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45074025	45074025	12894	11	G	T	T	33	33	PRDM11	T	3	3
OR52M1	119772	broad.mit.edu	36	11	4523131	4523131	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4523131G>T	uc001lzb.1	+	c.135G>T	c.(133-135)GTG>GTT	p.V45V		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)												0.181818	51.592912	68.344869	32	144	GG		KEEP	---	---	---	---	capture		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	Silent	SNP	4523131	4523131	11536	11	G	T	T	45	45	OR52M1	T	3	3
OR52M1	119772	broad.mit.edu	36	11	4523576	4523576	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4523576G>A	uc001lzb.1	+	c.580G>A	c.(580-582)GAC>AAC	p.D194N		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)												0.168421	108.270641	147.851351	64	316	GG		KEEP	---	---	---	---	capture		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4523576	4523576	11536	11	G	A	A	37	37	OR52M1	A	1	1
CRY2	1408	broad.mit.edu	36	11	45848198	45848198	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45848198C>A	uc001nbq.2	+	c.1213C>A	c.(1213-1215)CTG>ATG	p.L405M	CRY2_uc009ykw.1_Missense_Mutation_p.L344M	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	405	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|nucleotide binding|photoreceptor activity|protein binding			central_nervous_system(1)	1						Esophageal Squamous(106;91 1499 8126 12599 39610)								0.185714	94.057654	119.972084	52	228	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45848198	45848198	4043	11	C	A	A	24	24	CRY2	A	3	3
CRY2	1408	broad.mit.edu	36	11	45848491	45848491	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45848491C>T	uc001nbq.2	+	c.1381C>T	c.(1381-1383)CGA>TGA	p.R461*	CRY2_uc009ykw.1_Nonsense_Mutation_p.R400*	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	461	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|nucleotide binding|photoreceptor activity|protein binding			central_nervous_system(1)	1						Esophageal Squamous(106;91 1499 8126 12599 39610)								0.446429	141.53252	141.812765	50	62	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	45848491	45848491	4043	11	C	T	T	31	31	CRY2	T	5	1
MAPK8IP1	9479	broad.mit.edu	36	11	45883340	45883340	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45883340C>A	uc001nbr.1	+	c.2027C>A	c.(2026-2028)TCT>TAT	p.S676Y		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	676	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(1)	1														0.20155	48.668156	59.357035	26	103	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.231)	Missense_Mutation	SNP	45883340	45883340	9667	11	C	A	A	32	32	MAPK8IP1	A	3	3
PEX16	9409	broad.mit.edu	36	11	45893849	45893849	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45893849C>T	uc001nbt.1	-	c.340G>A	c.(340-342)GCC>ACC	p.A114T	PEX16_uc001nbu.1_Missense_Mutation_p.A114T	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 2	114	Helical; (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)	2														0.172524	76.241331	108.022631	54	259	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.223)	Missense_Mutation	SNP	45893849	45893849	12165	11	C	T	T	27	27	PEX16	T	1	1
GYLTL1B	120071	broad.mit.edu	36	11	45904674	45904674	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45904674C>T	uc001nbv.1	+	c.1114C>T	c.(1114-1116)CGG>TGG	p.R372W	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R341W|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R372W|GYLTL1B_uc001nby.1_Missense_Mutation_p.R55W|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	372	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2														0.223022	62.845713	72.660222	31	108	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.226)	Missense_Mutation	SNP	45904674	45904674	7187	11	C	T	T	27	27	GYLTL1B	T	1	1
PHF21A	51317	broad.mit.edu	36	11	45913832	45913832	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45913832C>T	uc001ncc.2	-	c.1716G>A	c.(1714-1716)TGG>TGA	p.W572*	PHF21A_uc001ncb.2_Nonsense_Mutation_p.W526*|PHF21A_uc009ykx.1_Nonsense_Mutation_p.W526*|PHF21A_uc001nca.1_Nonsense_Mutation_p.W308*	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	572	Potential.|Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.186667	56.107426	69.90815	28	122	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	45913832	45913832	12256	11	C	T	T	30	30	PHF21A	T	5	2
PHF21A	51317	broad.mit.edu	36	11	45943582	45943582	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45943582G>A	uc001ncc.2	-	c.853C>T	c.(853-855)CGT>TGT	p.R285C	PHF21A_uc001ncb.2_Missense_Mutation_p.R286C|PHF21A_uc009ykx.1_Missense_Mutation_p.R286C|PHF21A_uc001nce.2_Missense_Mutation_p.R286C|PHF21A_uc001nca.1_Missense_Mutation_p.R21C	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	285					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)	1												OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.413043	110.93439	111.541203	38	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45943582	45943582	12256	11	G	A	A	39	39	PHF21A	A	1	1
CREB3L1	90993	broad.mit.edu	36	11	46298609	46298609	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46298609G>A	uc001ncf.1	+	c.1477G>A	c.(1477-1479)GGC>AGC	p.G493S	CREB3L1_uc001ncg.1_Missense_Mutation_p.G127S	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	493	Lumenal (Potential).				regulation of transcription, DNA-dependent|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		FUS/CREB3L1(6)	soft_tissue(6)|ovary(2)	8						Pancreas(3;159 194 19597 26278 47995)								0.333333	12.334279	12.781964	6	12	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0285)	Missense_Mutation	SNP	46298609	46298609	3995	11	G	A	A	39	39	CREB3L1	A	1	1
OR51E1	143503	broad.mit.edu	36	11	4630589	4630589	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4630589C>T	uc001lzi.2	+	c.254C>T	c.(253-255)GCC>GTC	p.A85V	OR51E1_uc001lzj.1_Missense_Mutation_p.A85V	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)												0.253086	91.783079	100.76578	41	121	CC		KEEP	---	---	---	---	capture		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4630589	4630589	11504	11	C	T	T	26	26	OR51E1	T	2	2
DGKZ	8525	broad.mit.edu	36	11	46355237	46355237	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46355237G>T	uc001ncn.1	+	c.2805G>T	c.(2803-2805)GAG>GAT	p.E935D	DGKZ_uc001nch.1_Missense_Mutation_p.E763D|DGKZ_uc001ncj.1_Missense_Mutation_p.E713D|DGKZ_uc001nck.1_Missense_Mutation_p.E525D|DGKZ_uc001ncl.2_Missense_Mutation_p.E747D|DGKZ_uc001ncm.2_Missense_Mutation_p.E746D|DGKZ_uc009yky.1_Missense_Mutation_p.E747D	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	935					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	p.I746I(1)		pancreas(1)|central_nervous_system(1)|skin(1)	3														0.214876	49.071007	58.166348	26	95	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	Missense_Mutation	SNP	46355237	46355237	4653	11	G	T	T	33	33	DGKZ	T	3	3
CHRM4	1132	broad.mit.edu	36	11	46363646	46363646	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46363646C>T	uc001nct.1	-	c.1038G>A	c.(1036-1038)ACG>ACA	p.T346T		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	346	Cytoplasmic (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0					Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	Esophageal Squamous(171;1020 1936 4566 30205 42542)								0.258065	217.404059	237.16299	96	276	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Silent	SNP	46363646	46363646	3513	11	C	T	T	31	31	CHRM4	T	1	1
CHRM4	1132	broad.mit.edu	36	11	46364597	46364597	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46364597C>T	uc001nct.1	-	c.87G>A	c.(85-87)ACG>ACA	p.T29T		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	29	Extracellular (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0					Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	Esophageal Squamous(171;1020 1936 4566 30205 42542)								0.177419	69.366983	87.594419	33	153	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Silent	SNP	46364597	46364597	3513	11	C	T	T	23	23	CHRM4	T	1	1
AMBRA1	55626	broad.mit.edu	36	11	46375924	46375924	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46375924G>A	uc001ncv.1	-	c.3558C>T	c.(3556-3558)ATC>ATT	p.I1186I	AMBRA1_uc009ylc.1_Silent_p.I1154I|AMBRA1_uc001ncu.1_Silent_p.I1093I|AMBRA1_uc001ncw.1_Silent_p.I1064I|AMBRA1_uc001ncx.1_Silent_p.I1123I	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1183					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.43	116.009586	116.436033	43	57	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	Silent	SNP	46375924	46375924	568	11	G	A	A	37	37	AMBRA1	A	1	1
AMBRA1	55626	broad.mit.edu	36	11	46421714	46421714	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46421714G>A	uc001ncv.1	-	c.2541C>T	c.(2539-2541)ATC>ATT	p.I847I	AMBRA1_uc009ylc.1_Silent_p.I815I|AMBRA1_uc001ncu.1_Silent_p.I754I|AMBRA1_uc001ncw.1_Silent_p.I725I|AMBRA1_uc001ncx.1_Silent_p.I784I	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	844					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.447368	95.23465	95.418812	34	42	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	Silent	SNP	46421714	46421714	568	11	G	A	A	37	37	AMBRA1	A	1	1
AMBRA1	55626	broad.mit.edu	36	11	46520180	46520180	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46520180C>A	uc001ncv.1	-	c.1693G>T	c.(1693-1695)GGC>TGC	p.G565C	AMBRA1_uc009ylc.1_Missense_Mutation_p.G655C|AMBRA1_uc001ncu.1_Missense_Mutation_p.G565C|AMBRA1_uc001ncw.1_Missense_Mutation_p.G565C|AMBRA1_uc001ncx.1_Missense_Mutation_p.G655C	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	582					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.242574	106.762085	118.978937	49	153	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	Missense_Mutation	SNP	46520180	46520180	568	11	C	A	A	24	24	AMBRA1	A	3	3
AMBRA1	55626	broad.mit.edu	36	11	46520992	46520992	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46520992C>T	uc001ncv.1	-	c.881G>A	c.(880-882)CGC>CAC	p.R294H	AMBRA1_uc009ylc.1_Missense_Mutation_p.R384H|AMBRA1_uc001ncu.1_Missense_Mutation_p.R294H|AMBRA1_uc001ncw.1_Missense_Mutation_p.R294H|AMBRA1_uc001ncx.1_Missense_Mutation_p.R384H	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	384					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.183486	67.128998	87.591953	40	178	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	Missense_Mutation	SNP	46520992	46520992	568	11	C	T	T	27	27	AMBRA1	T	1	1
ARHGAP1	392	broad.mit.edu	36	11	46659141	46659141	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46659141G>A	uc001ndd.1	-	c.631C>T	c.(631-633)CTC>TTC	p.L211F		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	211	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)												0.2125	74.773108	86.989766	34	126	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	Missense_Mutation	SNP	46659141	46659141	872	11	G	A	A	34	34	ARHGAP1	A	2	2
ZNF408	79797	broad.mit.edu	36	11	46682836	46682836	+	Missense_Mutation	SNP	G	A	A	rs36017347	by-cluster,by-frequency,by-1000genomes	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46682836G>A	uc001nde.1	+	c.1010G>A	c.(1009-1011)CGG>CAG	p.R337Q		NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)								0.205882	82.386171	98.655643	42	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46682836	46682836	18481	11	G	A	A	39	39	ZNF408	A	1	1
ZNF408	79797	broad.mit.edu	36	11	46683333	46683333	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46683333C>T	uc001nde.1	+	c.1507C>T	c.(1507-1509)CGG>TGG	p.R503W		NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	503	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)								0.452471	351.893728	352.410722	119	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46683333	46683333	18481	11	C	T	T	23	23	ZNF408	T	1	1
F2	2147	broad.mit.edu	36	11	46706812	46706812	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46706812A>G	uc001ndf.2	+	c.1321A>G	c.(1321-1323)ATA>GTA	p.I441V	F2_uc001ndg.2_Non-coding_Transcript	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	441	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	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)			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)	Esophageal Squamous(147;1147 1808 2148 38609 51144)								0.405714	231.304725	232.660159	71	104	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.146)	Missense_Mutation	SNP	46706812	46706812	5536	11	A	G	G	12	12	F2	G	4	4
LRP4	4038	broad.mit.edu	36	11	46847124	46847124	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46847124G>A	uc001ndn.2	-	c.4828C>T	c.(4828-4830)CGG>TGG	p.R1610W		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1610	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			ovary(1)	1														0.444976	257.238818	257.790765	93	116	GG		KEEP	---	---	---	---	capture		Lung(87;0.159)	Missense_Mutation	SNP	46847124	46847124	9332	11	G	A	A	38	38	LRP4	A	1	1
C11orf49	79096	broad.mit.edu	36	11	47139670	47139670	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47139670C>A	uc001ndr.1	+	c.919C>A	c.(919-921)CGG>AGG	p.R307R	C11orf49_uc001ndq.1_3'UTR|C11orf49_uc001ndp.1_Silent_p.R301R|C11orf49_uc001nds.1_Intron	NM_001003677	NP_001003677	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 2	301											0												OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.177515	57.747529	74.303188	30	139	CC		KEEP	---	---	---	---	capture			Silent	SNP	47139670	47139670	1684	11	C	A	A	23	23	C11orf49	A	3	3
ARFGAP2	84364	broad.mit.edu	36	11	47154702	47154702	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47154702G>A	uc001ndt.1	-	c.132C>T	c.(130-132)TTC>TTT	p.F44F	ARFGAP2_uc001ndu.1_Silent_p.F44F|ARFGAP2_uc001ndv.1_Silent_p.F44F	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	44	C4-type.|Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1														0.240602	72.808503	81.002349	32	101	GG		KEEP	---	---	---	---	capture			Silent	SNP	47154702	47154702	861	11	G	A	A	33	33	ARFGAP2	A	2	2
PACSIN3	29763	broad.mit.edu	36	11	47160604	47160604	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47160604C>T	uc001ndw.1	-	c.137G>A	c.(136-138)CGC>CAC	p.R46H	PACSIN3_uc001ndx.1_Missense_Mutation_p.R46H|PACSIN3_uc001ndy.1_Missense_Mutation_p.R46H|PACSIN3_uc001ndz.1_Non-coding_Transcript|PACSIN3_uc001nea.1_Non-coding_Transcript	NM_016223	NP_057307	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in	46	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding				0														0.45098	184.743977	185.065103	69	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47160604	47160604	11792	11	C	T	T	27	27	PACSIN3	T	1	1
NR1H3	10062	broad.mit.edu	36	11	47238585	47238585	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47238585G>A	uc001nel.1	+	c.147G>A	c.(145-147)GGG>GGA	p.G49G	NR1H3_uc009yll.1_Silent_p.G100G|NR1H3_uc001nej.1_Silent_p.G94G|NR1H3_uc001nek.1_Silent_p.G49G|NR1H3_uc009ylm.1_Silent_p.G94G|NR1H3_uc001nen.2_Silent_p.G94G|NR1H3_uc001nem.1_Silent_p.G94G|NR1H3_uc001neo.1_Silent_p.G94G|NR1H3_uc001nep.1_Silent_p.G3G	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	94					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of macrophage derived foam cell differentiation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3										119				0.264045	109.899305	118.82676	47	131	GG		KEEP	---	---	---	---	capture			Silent	SNP	47238585	47238585	11023	11	G	A	A	41	41	NR1H3	A	2	2
NR1H3	10062	broad.mit.edu	36	11	47246460	47246460	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47246460A>G	uc001nel.1	+	c.1232A>G	c.(1231-1233)TAC>TGC	p.Y411C	NR1H3_uc001nej.1_Missense_Mutation_p.Y332C|NR1H3_uc001nek.1_Missense_Mutation_p.Y347C|NR1H3_uc009ylm.1_Missense_Mutation_p.Y392C|NR1H3_uc001nen.2_Missense_Mutation_p.Y332C|NR1H3_uc001nem.1_Missense_Mutation_p.Y392C|NR1H3_uc001neo.1_Missense_Mutation_p.Y392C|NR1H3_uc001nep.1_Missense_Mutation_p.Y241C|MADD_uc001neq.1_5'Flank|MADD_uc001ner.1_5'Flank|MADD_uc001nes.1_5'Flank|MADD_uc001net.1_5'Flank|MADD_uc001neu.1_5'Flank|MADD_uc001nev.1_5'Flank|MADD_uc009yln.1_5'Flank|MADD_uc001ney.1_5'Flank|MADD_uc001nez.1_5'Flank|MADD_uc001new.1_5'Flank|MADD_uc001nex.1_5'Flank	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	392	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of macrophage derived foam cell differentiation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3										119				0.451923	152.428679	152.635427	47	57	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47246460	47246460	11023	11	A	G	G	14	14	NR1H3	G	4	4
MADD	8567	broad.mit.edu	36	11	47262405	47262405	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47262405C>T	uc001ner.1	+	c.1963C>T	c.(1963-1965)CCC>TCC	p.P655S	MADD_uc001neq.1_Missense_Mutation_p.P655S|MADD_uc001nes.1_Missense_Mutation_p.P655S|MADD_uc001net.1_Missense_Mutation_p.P655S|MADD_uc001neu.1_Missense_Mutation_p.P655S|MADD_uc001nev.1_Missense_Mutation_p.P655S|MADD_uc009yln.1_Missense_Mutation_p.P655S|MADD_uc001ney.1_Missense_Mutation_p.P655S|MADD_uc001nez.1_Missense_Mutation_p.P655S|MADD_uc001new.1_Missense_Mutation_p.P655S|MADD_uc001nex.1_Missense_Mutation_p.P655S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	655					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(3)|central_nervous_system(2)	10										5				0.482759	331.702497	331.761342	112	120	CC		KEEP	---	---	---	---	capture		Lung(87;0.182)	Missense_Mutation	SNP	47262405	47262405	9529	11	C	T	T	30	30	MADD	T	2	2
MADD	8567	broad.mit.edu	36	11	47268037	47268037	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47268037G>A	uc001ner.1	+	c.2860G>A	c.(2860-2862)GAC>AAC	p.D954N	MADD_uc001neq.1_Missense_Mutation_p.D934N|MADD_uc001nes.1_Missense_Mutation_p.D911N|MADD_uc001net.1_Missense_Mutation_p.D954N|MADD_uc001neu.1_Missense_Mutation_p.D891N|MADD_uc001nev.1_Missense_Mutation_p.D891N|MADD_uc009yln.1_Missense_Mutation_p.D891N|MADD_uc001ney.1_Missense_Mutation_p.D934N|MADD_uc001nez.1_Missense_Mutation_p.D891N|MADD_uc001new.1_Missense_Mutation_p.D934N|MADD_uc001nex.1_Missense_Mutation_p.D954N|MADD_uc009ylo.1_5'Flank	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	954					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(3)|central_nervous_system(2)	10										5				0.425	95.328602	95.722769	34	46	GG		KEEP	---	---	---	---	capture		Lung(87;0.182)	Missense_Mutation	SNP	47268037	47268037	9529	11	G	A	A	41	41	MADD	A	2	2
MADD	8567	broad.mit.edu	36	11	47287686	47287686	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47287686C>T	uc001ner.1	+	c.4105C>T	c.(4105-4107)CGC>TGC	p.R1369C	MADD_uc001neq.1_Missense_Mutation_p.R1310C|MADD_uc001nes.1_Missense_Mutation_p.R1287C|MADD_uc001net.1_Missense_Mutation_p.R1330C|MADD_uc001neu.1_Missense_Mutation_p.R1267C|MADD_uc001nev.1_Missense_Mutation_p.R1267C|MADD_uc009yln.1_Missense_Mutation_p.R1263C|MADD_uc001ney.1_Missense_Mutation_p.R1310C|MADD_uc001nez.1_Missense_Mutation_p.R1266C|MADD_uc001new.1_Missense_Mutation_p.R1309C|MADD_uc001nex.1_Missense_Mutation_p.R1369C|MADD_uc009ylo.1_Missense_Mutation_p.R283C	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1369	Death.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(3)|central_nervous_system(2)	10										5				0.208955	86.954714	102.709421	42	159	CC		KEEP	---	---	---	---	capture		Lung(87;0.182)	Missense_Mutation	SNP	47287686	47287686	9529	11	C	T	T	31	31	MADD	T	1	1
MYBPC3	4607	broad.mit.edu	36	11	47321668	47321668	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47321668C>T	uc001nfa.2	-	c.1174G>A	c.(1174-1176)GCT>ACT	p.A392T		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	392	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3														0.32	19.58982	20.310264	8	17	CC		KEEP	---	---	---	---	capture		Lung(87;0.176)	Missense_Mutation	SNP	47321668	47321668	10408	11	C	T	T	27	27	MYBPC3	T	1	1
MYBPC3	4607	broad.mit.edu	36	11	47329555	47329555	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47329555G>A	uc001nfa.2	-	c.103C>T	c.(103-105)CGG>TGG	p.R35W		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	35					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3														0.477273	56.470634	56.490296	21	23	GG		KEEP	---	---	---	---	capture		Lung(87;0.176)	Missense_Mutation	SNP	47329555	47329555	10408	11	G	A	A	38	38	MYBPC3	A	1	1
SPI1	6688	broad.mit.edu	36	11	47353857	47353857	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47353857C>A	uc001nfb.1	-	c.48G>T	c.(46-48)CAG>CAT	p.Q16H	SPI1_uc001nfc.1_Splice_Site_SNP_p.P16_splice|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Splice_Site_SNP_p.P10_splice	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	15					negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2														0.236025	78.852505	89.125123	38	123	CC		KEEP	---	---	---	---	capture		Lung(87;0.0967)	Missense_Mutation	SNP	47353857	47353857	15561	11	C	A	A	28	28	SPI1	A	3	3
SPI1	6688	broad.mit.edu	36	11	47356470	47356470	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47356470G>A	uc001nfb.1	-	c.11C>T	c.(10-12)GCG>GTG	p.A4V	SPI1_uc001nfc.1_Missense_Mutation_p.A4V|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_5'UTR	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	4					negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2														0.428571	46.036442	46.224171	18	24	GG		KEEP	---	---	---	---	capture		Lung(87;0.0967)	Missense_Mutation	SNP	47356470	47356470	15561	11	G	A	A	38	38	SPI1	A	1	1
OR51F1	256892	broad.mit.edu	36	11	4747106	4747106	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4747106G>T	uc001lzl.1	-	c.618C>A	c.(616-618)ATC>ATA	p.I206I		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	206						integral to membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)												0.207746	113.138235	135.643339	59	225	GG		KEEP	---	---	---	---	capture		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	Silent	SNP	4747106	4747106	11506	11	G	T	T	41	41	OR51F1	T	3	3
PTPMT1	114971	broad.mit.edu	36	11	47549733	47549733	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47549733G>A	uc001nfs.2	+	c.582G>A	c.(580-582)GGG>GGA	p.G194G	PTPMT1_uc001nfu.2_3'UTR|PTPMT1_uc001nfv.2_3'UTR|NDUFS3_uc001nft.2_5'UTR|PTPMT1_uc009ylt.1_Non-coding_Transcript	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	194					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(1)	1														0.453125	339.861866	340.352845	116	140	GG		KEEP	---	---	---	---	capture			Silent	SNP	47549733	47549733	13233	11	G	A	A	41	41	PTPMT1	A	2	2
MTCH2	23788	broad.mit.edu	36	11	47612816	47612816	+	Missense_Mutation	SNP	T	C	C	rs58513409	unknown	TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47612816T>C	uc001ngd.1	-	c.353A>G	c.(352-354)GAC>GGC	p.D118G	MTCH2_uc001nge.1_5'UTR	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	118	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0														0.417582	259.583662	260.659125	76	106	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47612816	47612816	10307	11	T	C	C	58	58	MTCH2	C	4	4
FNBP4	23360	broad.mit.edu	36	11	47743411	47743411	+	Silent	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47743411A>T	uc009ylv.1	-	c.300T>A	c.(298-300)GCT>GCA	p.A100A	FNBP4_uc001ngj.1_Silent_p.A7A|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	100										ovary(1)	1														0.429098	713.498492	715.876657	233	310	AA		KEEP	---	---	---	---	capture			Silent	SNP	47743411	47743411	6209	11	A	T	T	7	7	FNBP4	T	4	4
NUP160	23279	broad.mit.edu	36	11	47761208	47761208	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47761208C>A	uc001ngm.1	-	c.4109G>T	c.(4108-4110)GGA>GTA	p.G1370V	NUP160_uc009ylw.1_Non-coding_Transcript	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1370					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)	6														0.483019	349.052279	349.120068	128	137	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47761208	47761208	11162	11	C	A	A	30	30	NUP160	A	3	3
NUP160	23279	broad.mit.edu	36	11	47790338	47790338	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47790338T>C	uc001ngm.1	-	c.2095A>G	c.(2095-2097)ATT>GTT	p.I699V	NUP160_uc009ylw.1_Non-coding_Transcript	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	699					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)	6														0.4689	327.561653	327.734414	98	111	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47790338	47790338	11162	11	T	C	C	49	49	NUP160	C	4	4
OR51F2	119694	broad.mit.edu	36	11	4799549	4799549	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4799549G>T	uc001lzn.1	+	c.358G>T	c.(358-360)GGA>TGA	p.G120*		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)												0.478873	531.23419	531.371568	170	185	GG		KEEP	---	---	---	---	capture		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	Nonsense_Mutation	SNP	4799549	4799549	11507	11	G	T	T	39	39	OR51F2	T	5	3
PTPRJ	5795	broad.mit.edu	36	11	48115265	48115265	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:48115265G>A	uc001ngp.2	+	c.2008G>A	c.(2008-2010)GCA>ACA	p.A670T		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	670	Extracellular (Potential).|Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8														0.208075	133.755113	159.172809	67	255	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48115265	48115265	13261	11	G	A	A	38	38	PTPRJ	A	1	1
PTPRJ	5795	broad.mit.edu	36	11	48122895	48122895	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:48122895G>T	uc001ngp.2	+	c.2668G>T	c.(2668-2670)GAA>TAA	p.E890*		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	890	Extracellular (Potential).|Fibronectin type-III 9.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8														0.457831	207.965987	208.224661	76	90	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	48122895	48122895	13261	11	G	T	T	33	33	PTPRJ	T	5	3
PTPRJ	5795	broad.mit.edu	36	11	48133928	48133928	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:48133928G>T	uc001ngp.2	+	c.3230_splice	c.e20-1	p.Y1077_splice		NM_002843	NP_002834			protein tyrosine phosphatase, receptor type, J						contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8														0.202381	32.520554	39.439671	17	67	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	48133928	48133928	13261	11	G	T	T	33	33	PTPRJ	T	5	3
OR51S1	119692	broad.mit.edu	36	11	4826709	4826709	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4826709G>T	uc001lzo.1	-	c.306C>A	c.(304-306)GCC>GCA	p.A102A		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	102	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)												0.197183	75.608946	93.824889	42	171	GG		KEEP	---	---	---	---	capture		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	Silent	SNP	4826709	4826709	11515	11	G	T	T	35	35	OR51S1	T	3	3
OR51G2	81282	broad.mit.edu	36	11	4892743	4892743	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4892743G>T	uc001lzr.1	-	c.727C>A	c.(727-729)CTT>ATT	p.L243I		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	243	Helical; Name=6; (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)												0.422819	171.389302	172.165728	63	86	GG		KEEP	---	---	---	---	capture		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4892743	4892743	11509	11	G	T	T	35	35	OR51G2	T	3	3
OR51G2	81282	broad.mit.edu	36	11	4892807	4892807	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4892807G>T	uc001lzr.1	-	c.663C>A	c.(661-663)TTC>TTA	p.F221L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	221	Helical; Name=5; (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)												0.4	113.463668	114.429484	44	66	GG		KEEP	---	---	---	---	capture		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4892807	4892807	11509	11	G	T	T	33	33	OR51G2	T	3	3
OR51G2	81282	broad.mit.edu	36	11	4893298	4893298	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4893298G>A	uc001lzr.1	-	c.172C>T	c.(172-174)CGC>TGC	p.R58C		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	58	Cytoplasmic (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)												0.451923	130.209244	130.418726	47	57	GG		KEEP	---	---	---	---	capture		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4893298	4893298	11509	11	G	A	A	38	38	OR51G2	A	1	1
OR52J3	119679	broad.mit.edu	36	11	5024831	5024831	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5024831G>A	uc001lzx.1	+	c.500G>A	c.(499-501)CGC>CAC	p.R167H		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)												0.261468	131.671617	142.901107	57	161	GG		KEEP	---	---	---	---	capture		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	5024831	5024831	11532	11	G	A	A	38	38	OR52J3	A	1	1
OR52J3	119679	broad.mit.edu	36	11	5025061	5025061	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5025061G>A	uc001lzx.1	+	c.730G>A	c.(730-732)GCT>ACT	p.A244T		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)												0.407692	429.433376	432.340272	159	231	GG		KEEP	---	---	---	---	capture		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	5025061	5025061	11532	11	G	A	A	38	38	OR52J3	A	1	1
OR4A5	81318	broad.mit.edu	36	11	51268866	51268866	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:51268866T>C	uc001nhi.1	-	c.106A>G	c.(106-108)ACA>GCA	p.T36A		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		all_lung(304;0.236)												0.217391	64.116448	72.58303	25	90	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51268866	51268866	11449	11	T	C	C	58	58	OR4A5	C	4	4
HBG2	3048	broad.mit.edu	36	11	5232263	5232263	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5232263G>A	uc001mai.1	-	c.150C>T	c.(148-150)TCC>TCT	p.S50S	HBG2_uc001mak.1_Non-coding_Transcript|HBG2_uc001maj.1_Silent_p.S50S	NM_000559	NP_000550	P69892	HBG2_HUMAN	A-gamma globin	50					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)												0.177966	89.599329	112.65025	42	194	GG		KEEP	---	---	---	---	capture		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	5232263	5232263	7265	11	G	A	A	35	35	HBG2	A	2	2
OR51B4	79339	broad.mit.edu	36	11	5279184	5279184	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5279184G>A	uc001man.1	-	c.569C>T	c.(568-570)ACG>ATG	p.T190M	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)												0.26	90.25356	98.080158	39	111	GG		KEEP	---	---	---	---	capture		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5279184	5279184	11500	11	G	A	A	40	40	OR51B4	A	1	1
OR51B4	79339	broad.mit.edu	36	11	5279281	5279281	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5279281G>T	uc001man.1	-	c.472C>A	c.(472-474)CTT>ATT	p.L158I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	158	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)												0.272152	94.827229	102.244869	43	115	GG		KEEP	---	---	---	---	capture		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5279281	5279281	11500	11	G	T	T	33	33	OR51B4	T	3	3
OR51B2	79345	broad.mit.edu	36	11	5301959	5301959	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5301959G>A	uc001mao.1	-	c.145C>T	c.(145-147)CAT>TAT	p.H49Y	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)												0.25	108.737877	120.114458	50	150	GG		KEEP	---	---	---	---	capture		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5301959	5301959	11499	11	G	A	A	46	46	OR51B2	A	2	2
OR51B5	282763	broad.mit.edu	36	11	5321247	5321247	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5321247A>C	uc001map.1	-	c.84T>G	c.(82-84)TTT>TTG	p.F28L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.F28L	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)												0.163265	32.940734	43.496461	16	82	AA		KEEP	---	---	---	---	capture		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5321247	5321247	11501	11	A	C	C	1	1	OR51B5	C	4	4
OR51Q1	390061	broad.mit.edu	36	11	5400505	5400505	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5400505C>T	uc001mau.1	+	c.499C>T	c.(499-501)CGA>TGA	p.R167*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)												0.444444	512.852501	514.008332	192	240	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Nonsense_Mutation	SNP	5400505	5400505	11514	11	C	T	T	27	27	OR51Q1	T	5	1
UBQLN3	50613	broad.mit.edu	36	11	5486051	5486051	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5486051G>T	uc001may.1	-	c.1314C>A	c.(1312-1314)AGC>AGA	p.S438R	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank|UBQLN3_uc009yen.1_Missense_Mutation_p.S438R	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	438										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)				Ovarian(72;684 1260 12332 41642 52180)								0.22439	96.627149	110.954748	46	159	GG		KEEP	---	---	---	---	capture		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5486051	5486051	17456	11	G	T	T	46	46	UBQLN3	T	3	3
OR4C15	81309	broad.mit.edu	36	11	55078979	55078979	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55078979G>A	uc001nho.1	+	c.621G>A	c.(619-621)TTG>TTA	p.L207L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.212928	109.257625	129.292539	56	207	GG		KEEP	---	---	---	---	capture			Silent	SNP	55078979	55078979	11454	11	G	A	A	46	46	OR4C15	A	2	2
OR4C16	219428	broad.mit.edu	36	11	55096546	55096546	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55096546G>A	uc001nhp.1	+	c.367G>A	c.(367-369)GAC>AAC	p.D123N		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.19726	139.076315	170.276961	72	293	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55096546	55096546	11455	11	G	A	A	41	41	OR4C16	A	2	2
OR4C16	219428	broad.mit.edu	36	11	55096928	55096928	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55096928G>A	uc001nhp.1	+	c.749G>A	c.(748-750)GGA>GAA	p.G250E		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.19214	89.25973	109.538767	44	185	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55096928	55096928	11455	11	G	A	A	41	41	OR4C16	A	2	2
OR4S2	219431	broad.mit.edu	36	11	55175650	55175650	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55175650G>A	uc001nhs.1	+	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)												0.92638	465.725237	493.049763	151	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55175650	55175650	11493	11	G	A	A	38	38	OR4S2	A	1	1
OR5D13	390142	broad.mit.edu	36	11	55297995	55297995	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55297995C>T	uc001nhu.1	+	c.506C>T	c.(505-507)TCG>TTG	p.S169L		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.215976	152.114924	177.261387	73	265	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55297995	55297995	11564	11	C	T	T	31	31	OR5D13	T	1	1
OR5D13	390142	broad.mit.edu	36	11	55298110	55298110	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55298110C>T	uc001nhu.1	+	c.621C>T	c.(619-621)TTC>TTT	p.F207F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.230769	160.336883	181.944501	75	250	CC		KEEP	---	---	---	---	capture			Silent	SNP	55298110	55298110	11564	11	C	T	T	29	29	OR5D13	T	2	2
OR5L1	219437	broad.mit.edu	36	11	55335985	55335985	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55335985C>A	uc001nhw.1	+	c.467C>A	c.(466-468)TCT>TAT	p.S156Y		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.176087	122.951703	168.524964	81	379	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55335985	55335985	11580	11	C	A	A	32	32	OR5L1	A	3	3
OR5L1	219437	broad.mit.edu	36	11	55336359	55336359	+	Missense_Mutation	SNP	G	A	A	rs61735738	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55336359G>A	uc001nhw.1	+	c.841G>A	c.(841-843)GTG>ATG	p.V281M		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V281L(1)		ovary(2)	2		all_epithelial(135;0.208)												0.140845	25.902967	43.586989	20	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55336359	55336359	11580	11	G	A	A	40	40	OR5L1	A	1	1
OR5L1	219437	broad.mit.edu	36	11	55336419	55336419	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55336419C>A	uc001nhw.1	+	c.901C>A	c.(901-903)CTC>ATC	p.L301I		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.20202	38.137011	46.312212	20	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55336419	55336419	11580	11	C	A	A	32	32	OR5L1	A	3	3
OR10AG1	282770	broad.mit.edu	36	11	55491833	55491833	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55491833G>A	uc001nid.1	-	c.683C>T	c.(682-684)GCC>GTC	p.A228V		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.0137)													0.463415	108.538141	108.634003	38	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55491833	55491833	11303	11	G	A	A	42	42	OR10AG1	A	2	2
OR52B6	340980	broad.mit.edu	36	11	5558846	5558846	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5558846A>G	uc001mbb.1	+	c.164A>G	c.(163-165)TAC>TGC	p.Y55C	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	55	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)												0.236364	110.863094	121.330179	39	126	AA		KEEP	---	---	---	---	capture		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5558846	5558846	11523	11	A	G	G	14	14	OR52B6	G	4	4
OR52B6	340980	broad.mit.edu	36	11	5559670	5559670	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5559670C>A	uc001mbb.1	+	c.988C>A	c.(988-990)CTT>ATT	p.L330I	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	330	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)												0.484694	264.593185	264.633997	95	101	CC		KEEP	---	---	---	---	capture		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5559670	5559670	11523	11	C	A	A	32	32	OR52B6	A	3	3
OR8H3	390152	broad.mit.edu	36	11	55646767	55646767	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55646767C>T	uc001nii.1	+	c.343C>T	c.(343-345)CTC>TTC	p.L115F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)													0.432602	832.984177	835.514742	276	362	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55646767	55646767	11650	11	C	T	T	32	32	OR8H3	T	2	2
OR5J2	282775	broad.mit.edu	36	11	55700885	55700885	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55700885C>A	uc001nil.1	+	c.216C>A	c.(214-216)TGC>TGA	p.C72*		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)													0.195704	157.383156	193.578887	82	337	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55700885	55700885	11575	11	C	A	A	28	28	OR5J2	A	5	3
OR5T3	390154	broad.mit.edu	36	11	55776904	55776904	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55776904C>A	uc001nin.1	+	c.653C>A	c.(652-654)TCT>TAT	p.S218Y		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	218	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)													0.395385	664.916714	671.176301	257	393	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55776904	55776904	11593	11	C	A	A	32	32	OR5T3	A	3	3
OR5T1	390155	broad.mit.edu	36	11	55800021	55800021	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55800021A>G	uc001nio.1	+	c.331A>G	c.(331-333)ACA>GCA	p.T111A		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	111	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)													0.206742	245.86094	281.324085	92	353	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55800021	55800021	11591	11	A	G	G	2	2	OR5T1	G	4	4
OR8H1	219469	broad.mit.edu	36	11	55814191	55814191	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55814191C>A	uc001nip.1	-	c.924G>T	c.(922-924)CAG>CAT	p.Q308H		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.167647	96.137875	131.752828	57	283	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55814191	55814191	11648	11	C	A	A	24	24	OR8H1	A	3	3
OR8K3	219473	broad.mit.edu	36	11	55842902	55842902	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55842902C>T	uc001niq.1	+	c.544C>T	c.(544-546)CTC>TTC	p.L182F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)													0.204918	112.702168	132.423448	50	194	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55842902	55842902	11655	11	C	T	T	32	32	OR8K3	T	2	2
TRIM6	117854	broad.mit.edu	36	11	5589134	5589134	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5589134C>T	uc001mbd.1	+	c.1537C>T	c.(1537-1539)CGT>TGT	p.R513C	HBG2_uc001mak.1_Intron|TRIM6_uc001mbc.1_Missense_Mutation_p.R485C|TRIM6_uc009yeo.1_Missense_Mutation_p.R459C|TRIM6_uc001mbe.1_Missense_Mutation_p.R310C|TRIM6-TRIM34_uc001mbf.1_Intron|TRIM6_uc001mbg.1_Missense_Mutation_p.R310C|TRIM6_uc009yep.1_3'UTR	NM_001003818	NP_477514	Q9C030	TRIM6_HUMAN	tripartite motif-containing 6 isoform 1	485	B30.2/SPRY.				protein trimerization	cytoplasm	zinc ion binding				0		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)												0.455414	408.983258	409.52707	143	171	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	Missense_Mutation	SNP	5589134	5589134	17079	11	C	T	T	31	31	TRIM6	T	1	1
OR5R1	219479	broad.mit.edu	36	11	55941399	55941399	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55941399C>A	uc001niu.1	-	c.886G>T	c.(886-888)GAA>TAA	p.E296*		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.197026	94.985905	118.031812	53	216	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55941399	55941399	11590	11	C	A	A	32	32	OR5R1	A	5	3
OR5M3	219482	broad.mit.edu	36	11	55994205	55994205	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55994205C>T	uc001niw.1	-	c.345G>A	c.(343-345)GCG>GCA	p.A115A		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.446667	377.403882	378.147675	134	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	55994205	55994205	11585	11	C	T	T	31	31	OR5M3	T	1	1
OR5M8	219484	broad.mit.edu	36	11	56014531	56014531	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56014531C>A	uc001nix.1	-	c.892G>T	c.(892-894)GAA>TAA	p.E298*		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)													0.19708	48.131528	59.860087	27	110	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	56014531	56014531	11586	11	C	A	A	32	32	OR5M8	A	5	3
OR5M1	390168	broad.mit.edu	36	11	56136953	56136953	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56136953A>G	uc001nja.1	-	c.602T>C	c.(601-603)GTA>GCA	p.V201A		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.442953	219.853899	220.271824	66	83	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56136953	56136953	11582	11	A	G	G	14	14	OR5M1	G	4	4
OR5AP2	338675	broad.mit.edu	36	11	56166354	56166354	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56166354C>A	uc001njb.1	-	c.138G>T	c.(136-138)GTG>GTT	p.V46V		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3														0.160428	49.117846	69.659924	30	157	CC		KEEP	---	---	---	---	capture			Silent	SNP	56166354	56166354	11554	11	C	A	A	21	21	OR5AP2	A	3	3
TRIM6-TRIM34	445372	broad.mit.edu	36	11	5621160	5621160	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5621160C>T	uc001mbf.1	+	c.2174C>T	c.(2173-2175)TCC>TTC	p.S725F	HBG2_uc001mak.1_Intron|TRIM78P_uc009yer.1_Intron|TRIM34_uc001mbh.1_Missense_Mutation_p.S371F|TRIM34_uc009yeq.1_Missense_Mutation_p.S126F|TRIM34_uc001mbi.1_Missense_Mutation_p.S371F	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	725						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)												0.241935	100.572429	111.878873	45	141	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	Missense_Mutation	SNP	5621160	5621160	17080	11	C	T	T	30	30	TRIM6-TRIM34	T	2	2
OR9G1	390174	broad.mit.edu	36	11	56225295	56225295	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56225295C>A	uc001njd.1	+	c.856C>A	c.(856-858)CCC>ACC	p.P286T		NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.213523	120.33585	141.652724	60	221	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56225295	56225295	11661	11	C	A	A	32	32	OR9G1	A	3	3
OR9G4	283189	broad.mit.edu	36	11	56267259	56267259	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56267259A>G	uc001nje.1	-	c.605T>C	c.(604-606)ATG>ACG	p.M202T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	202	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.346535	100.902148	102.998555	35	66	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56267259	56267259	11662	11	A	G	G	8	8	OR9G4	G	4	4
TRIM22	10346	broad.mit.edu	36	11	5686937	5686937	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5686937G>A	uc001mbr.1	+	c.980G>A	c.(979-981)CGC>CAC	p.R327H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.1_Missense_Mutation_p.R323H|TRIM22_uc009yeu.1_Missense_Mutation_p.R138H|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	327	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|regulation of transcription, DNA-dependent|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)				GBM(104;491 2336 5222)								0.247573	111.328896	123.273661	51	155	GG		KEEP	---	---	---	---	capture		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	Missense_Mutation	SNP	5686937	5686937	17040	11	G	A	A	38	38	TRIM22	A	1	1
TRIM22	10346	broad.mit.edu	36	11	5687259	5687259	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5687259C>A	uc001mbr.1	+	c.1302C>A	c.(1300-1302)CTC>CTA	p.L434L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.1_Silent_p.L430L|TRIM22_uc009yeu.1_Silent_p.L245L|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	434	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|regulation of transcription, DNA-dependent|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)				GBM(104;491 2336 5222)								0.195364	105.023979	131.189685	59	243	CC		KEEP	---	---	---	---	capture		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	Silent	SNP	5687259	5687259	17040	11	C	A	A	32	32	TRIM22	A	3	3
SLC43A3	29015	broad.mit.edu	36	11	56934140	56934140	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56934140G>A	uc001nkg.1	-	c.1091C>T	c.(1090-1092)TCG>TTG	p.S364L	PRG2_uc001nke.1_Intron|SLC43A3_uc001nkh.1_Missense_Mutation_p.S364L|SLC43A3_uc009yme.1_Missense_Mutation_p.S364L|SLC43A3_uc001nki.1_Missense_Mutation_p.S364L	NM_014096	NP_955361	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	364	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)	1														0.210526	6.880012	8.36577	4	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56934140	56934140	15131	11	G	A	A	37	37	SLC43A3	A	1	1
PRG2	5553	broad.mit.edu	36	11	56945073	56945073	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56945073G>T	uc001nke.1	-	c.176C>A	c.(175-177)ACT>AAT	p.T59N	SLC43A3_uc001nkg.1_Missense_Mutation_p.T160N|SLC43A3_uc001nkh.1_Missense_Mutation_p.T160N|SLC43A3_uc009yme.1_Missense_Mutation_p.T160N|SLC43A3_uc001nki.1_Missense_Mutation_p.T160N|SLC43A3_uc009ymf.1_Missense_Mutation_p.T160N|SLC43A3_uc009ymg.1_Missense_Mutation_p.T173N			P13727	PRG2_HUMAN	Homo sapiens mRNA for FOAP-13, complete cds.	Error:Variant_position_missing_in_P13727_after_alignment					defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding			central_nervous_system(1)	1					Sargramostim(DB00020)									0.172414	28.366252	37.192	15	72	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	56945073	56945073	12922	11	G	T	T	36	36	PRG2	T	3	3
SMTNL1	219537	broad.mit.edu	36	11	57067121	57067121	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57067121G>A	uc009ymh.1	+	c.484G>A	c.(484-486)GCC>ACC	p.A162T		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	144										ovary(1)	1														0.64	49.505188	49.936566	16	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57067121	57067121	15315	11	G	A	A	42	42	SMTNL1	A	2	2
SMTNL1	219537	broad.mit.edu	36	11	57067733	57067733	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57067733G>A	uc009ymh.1	+	c.847G>A	c.(847-849)GCA>ACA	p.A283T		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	265										ovary(1)	1														0.538462	18.316692	18.332734	7	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57067733	57067733	15315	11	G	A	A	42	42	SMTNL1	A	2	2
UBE2L6	9246	broad.mit.edu	36	11	57078625	57078625	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57078625G>A	uc001nkn.1	-	c.171C>T	c.(169-171)TTC>TTT	p.F57F	UBE2L6_uc001nko.1_5'UTR	NM_004223	NP_937826	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6 isoform 1	57					negative regulation of type I interferon production|post-translational protein modification	cytosol	protein binding|ubiquitin-protein ligase activity			ovary(1)	1														0.171617	86.680864	117.615247	52	251	GG		KEEP	---	---	---	---	capture			Silent	SNP	57078625	57078625	17421	11	G	A	A	41	41	UBE2L6	A	2	2
SERPING1	710	broad.mit.edu	36	11	57124026	57124026	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57124026C>A	uc009ymi.1	+	c.150C>A	c.(148-150)ATC>ATA	p.I50I	SERPING1_uc001nkp.1_Silent_p.I50I|SERPING1_uc001nkq.1_Silent_p.I50I|SERPING1_uc001nkr.1_Silent_p.I50I|SERPING1_uc009ymj.1_Silent_p.I50I|SERPING1_uc001nks.1_Intron	NM_001032295	NP_001027466	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	50					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														0.529801	221.761971	221.875741	80	71	CC		KEEP	---	---	---	---	capture			Silent	SNP	57124026	57124026	14604	11	C	A	A	32	32	SERPING1	A	3	3
CLP1	10978	broad.mit.edu	36	11	57185391	57185391	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57185391G>A	uc001nkw.1	+	c.1185G>A	c.(1183-1185)GAG>GAA	p.E395E	CLP1_uc009yml.1_Silent_p.E395E	NM_006831	NP_006822	Q92989	CLP1_HUMAN	ATP/GTP-binding protein isoform 1	395					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			ovary(1)	1									p.E395E(KNS42-Tumor)|p.E395E(CJM-Tumor)	78				0.269231	174.432573	186.930271	70	190	GG		KEEP	---	---	---	---	capture			Silent	SNP	57185391	57185391	3688	11	G	A	A	34	34	CLP1	A	2	2
OR6Q1	219952	broad.mit.edu	36	11	57555167	57555167	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57555167G>A	uc001nmk.1	+	c.167G>A	c.(166-168)CGA>CAA	p.R56Q	OR9Q1_uc001nmj.1_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	56	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)												0.251295	207.165876	228.838429	97	289	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57555167	57555167	11619	11	G	A	A	37	37	OR6Q1	A	1	1
OR9I1	219954	broad.mit.edu	36	11	57642607	57642607	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57642607C>A	uc001nml.1	-	c.886G>T	c.(886-888)GAT>TAT	p.D296Y	OR9Q1_uc001nmj.1_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)												0.138728	56.178193	99.845998	48	298	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57642607	57642607	11664	11	C	A	A	32	32	OR9I1	A	3	3
OR52N1	79473	broad.mit.edu	36	11	5765664	5765664	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5765664A>C	uc001mbw.1	-	c.959T>G	c.(958-960)TTT>TGT	p.F320C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	320	Cytoplasmic (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)												0.47973	738.387545	738.543971	213	231	AA		KEEP	---	---	---	---	capture		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	Missense_Mutation	SNP	5765664	5765664	11537	11	A	C	C	1	1	OR52N1	C	4	4
OR52N1	79473	broad.mit.edu	36	11	5766504	5766504	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5766504G>A	uc001mbw.1	-	c.119C>T	c.(118-120)GCT>GTT	p.A40V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	40	Helical; Name=1; (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)												0.185897	56.501258	70.914572	29	127	GG		KEEP	---	---	---	---	capture		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	Missense_Mutation	SNP	5766504	5766504	11537	11	G	A	A	34	34	OR52N1	A	2	2
OR9Q2	219957	broad.mit.edu	36	11	57714845	57714845	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57714845C>A	uc001nmm.1	+	c.307C>A	c.(307-309)CTC>ATC	p.L103I		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)												0.222581	137.283676	159.261658	69	241	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57714845	57714845	11667	11	C	A	A	24	24	OR9Q2	A	3	3
OR1S1	219959	broad.mit.edu	36	11	57738841	57738841	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57738841G>T	uc001nmo.1	+	c.49G>T	c.(49-51)GGA>TGA	p.G17*		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)												0.254464	127.951548	140.22064	57	167	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	57738841	57738841	11378	11	G	T	T	35	35	OR1S1	T	5	3
OR1S1	219959	broad.mit.edu	36	11	57739071	57739071	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57739071A>C	uc001nmo.1	+	c.279A>C	c.(277-279)AAA>AAC	p.K93N		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)												0.181818	178.460526	218.205692	76	342	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57739071	57739071	11378	11	A	C	C	1	1	OR1S1	C	4	4
OR1S1	219959	broad.mit.edu	36	11	57739491	57739491	+	Missense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57739491C>G	uc001nmo.1	+	c.699C>G	c.(697-699)TGC>TGG	p.C233W		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)												0.142857	43.941638	63.713168	23	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57739491	57739491	11378	11	C	G	G	25	25	OR1S1	G	3	3
OR10W1	81341	broad.mit.edu	36	11	57791120	57791120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57791120G>A	uc001nmq.1	-	c.787C>T	c.(787-789)CAG>TAG	p.Q263*		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	263	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)												0.456731	268.385015	268.725886	95	113	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	57791120	57791120	11327	11	G	A	A	37	37	OR10W1	A	5	1
OR10W1	81341	broad.mit.edu	36	11	57791625	57791625	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57791625G>A	uc001nmq.1	-	c.282C>T	c.(280-282)TTC>TTT	p.F94F		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	94	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)												0.42	122.428738	122.988236	42	58	GG		KEEP	---	---	---	---	capture			Silent	SNP	57791625	57791625	11327	11	G	A	A	33	33	OR10W1	A	2	2
OR10W1	81341	broad.mit.edu	36	11	57791780	57791780	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57791780C>T	uc001nmq.1	-	c.127G>A	c.(127-129)GAA>AAA	p.E43K		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	43	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)												0.478632	166.687539	166.734218	56	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57791780	57791780	11327	11	C	T	T	32	32	OR10W1	T	2	2
OR5B17	219965	broad.mit.edu	36	11	57882844	57882844	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57882844T>C	uc001nmr.1	-	c.275A>G	c.(274-276)TAC>TGC	p.Y92C		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.202247	45.610006	52.931264	18	71	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57882844	57882844	11559	11	T	C	C	57	57	OR5B17	C	4	4
OR5B3	441608	broad.mit.edu	36	11	57927203	57927203	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57927203C>T	uc001nms.1	-	c.256G>A	c.(256-258)GAA>AAA	p.E86K		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.207071	87.427148	103.128412	41	157	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57927203	57927203	11562	11	C	T	T	32	32	OR5B3	T	2	2
OR5B2	390190	broad.mit.edu	36	11	57947041	57947041	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:57947041G>A	uc001nmt.1	-	c.270C>T	c.(268-270)ATC>ATT	p.I90I		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	90	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)												0.27	140.058923	149.606048	54	146	GG		KEEP	---	---	---	---	capture			Silent	SNP	57947041	57947041	11560	11	G	A	A	33	33	OR5B2	A	2	2
CNTF	1270	broad.mit.edu	36	11	58148284	58148284	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:58148284C>A	uc001nna.2	+	c.316C>A	c.(316-318)CAT>AAT	p.H106N	ZFP91-CNTF_uc001nmz.2_3'UTR	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	106					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)												0.161905	26.701854	38.126317	17	88	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58148284	58148284	3775	11	C	A	A	21	21	CNTF	A	3	3
PHRF1	57661	broad.mit.edu	36	11	582657	582657	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:582657C>T	uc001lqe.1	+	c.603C>T	c.(601-603)TGC>TGT	p.C201C	PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	201	PHD-type.						RNA polymerase binding|zinc ion binding				0														0.469194	271.988011	272.163212	99	112	CC		KEEP	---	---	---	---	capture			Silent	SNP	582657	582657	12285	11	C	T	T	27	27	PHRF1	T	1	1
OR52E8	390079	broad.mit.edu	36	11	5835160	5835160	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5835160C>T	uc001mbz.1	-	c.349G>A	c.(349-351)GAG>AAG	p.E117K	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	117	Helical; Name=3; (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;0.114)												0.207364	228.337733	269.286252	107	409	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5835160	5835160	11528	11	C	T	T	30	30	OR52E8	T	2	2
OR52E4	390081	broad.mit.edu	36	11	5862290	5862290	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5862290C>T	uc001mca.1	+	c.192C>T	c.(190-192)TTC>TTT	p.F64F	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.440678	514.454862	515.726075	182	231	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	5862290	5862290	11526	11	C	T	T	30	30	OR52E4	T	2	2
OR52E4	390081	broad.mit.edu	36	11	5862673	5862673	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5862673C>T	uc001mca.1	+	c.575C>T	c.(574-576)GCA>GTA	p.A192V	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.235294	187.364859	212.459044	92	299	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5862673	5862673	11526	11	C	T	T	25	25	OR52E4	T	2	2
FAM111B	374393	broad.mit.edu	36	11	58649264	58649264	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:58649264G>A	uc001nnl.1	+	c.1118G>A	c.(1117-1119)CGG>CAG	p.R373Q	FAM111B_uc001nnm.1_Missense_Mutation_p.R343Q	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	373							catalytic activity			ovary(2)	2														0.478571	408.434764	408.546223	134	146	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58649264	58649264	5597	11	G	A	A	39	39	FAM111B	A	1	1
OR5AN1	390195	broad.mit.edu	36	11	58888946	58888946	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:58888946C>T	uc001nnv.1	+	c.439C>T	c.(439-441)CTG>TTG	p.L147L		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.459384	490.362419	490.874572	164	193	CC		KEEP	---	---	---	---	capture			Silent	SNP	58888946	58888946	11553	11	C	T	T	20	20	OR5AN1	T	2	2
OR5A1	219982	broad.mit.edu	36	11	58967526	58967526	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:58967526G>A	uc001nnx.1	+	c.309G>A	c.(307-309)CAG>CAA	p.Q103Q		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	103	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.232346	235.30345	264.123927	102	337	GG		KEEP	---	---	---	---	capture			Silent	SNP	58967526	58967526	11549	11	G	A	A	36	36	OR5A1	A	2	2
OR5A1	219982	broad.mit.edu	36	11	58968130	58968130	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:58968130T>C	uc001nnx.1	+	c.913T>C	c.(913-915)TGG>CGG	p.W305R		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.408955	391.81278	394.237488	137	198	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58968130	58968130	11549	11	T	C	C	59	59	OR5A1	C	4	4
OR4D11	219986	broad.mit.edu	36	11	59028443	59028443	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59028443C>T	uc001noa.1	+	c.819C>T	c.(817-819)GTC>GTT	p.V273V		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2														0.39886	360.064708	363.222152	140	211	CC		KEEP	---	---	---	---	capture			Silent	SNP	59028443	59028443	11462	11	C	T	T	29	29	OR4D11	T	2	2
OSBP	5007	broad.mit.edu	36	11	59100857	59100857	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59100857C>A	uc001noc.1	-	c.2278G>T	c.(2278-2280)GAT>TAT	p.D760Y	OSBP_uc009ymr.1_Non-coding_Transcript	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	760	Potential.				lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)												0.23	137.293463	157.371044	69	231	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	Missense_Mutation	SNP	59100857	59100857	11684	11	C	A	A	30	30	OSBP	A	3	3
PATL1	219988	broad.mit.edu	36	11	59173562	59173562	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59173562T>G	uc001noe.2	-	c.1682A>C	c.(1681-1683)AAA>ACA	p.K561T	PATL1_uc009yms.1_Missense_Mutation_p.K531T	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	561	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1														0.325843	89.047914	91.440955	29	60	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59173562	59173562	11894	11	T	G	G	64	64	PATL1	G	4	4
STX3	6809	broad.mit.edu	36	11	59279666	59279666	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59279666T>C	uc001nog.1	+	c.12T>C	c.(10-12)CGT>CGC	p.R4R		NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	4	Cytoplasmic (Potential).			Missing (in Ref. 2).	cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2														0.375	74.287224	75.163913	24	40	TT		KEEP	---	---	---	---	capture			Silent	SNP	59279666	59279666	15866	11	T	C	C	58	58	STX3	C	4	4
STX3	6809	broad.mit.edu	36	11	59317548	59317548	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59317548G>A	uc001nog.1	+	c.660G>A	c.(658-660)ATG>ATA	p.M220I	STX3_uc009ymt.1_Missense_Mutation_p.M123I	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	220	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2														0.2	34.607872	42.536911	19	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59317548	59317548	15866	11	G	A	A	46	46	STX3	A	2	2
GIF	2694	broad.mit.edu	36	11	59367138	59367138	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59367138G>A	uc001noi.1	-	c.309C>T	c.(307-309)TGC>TGT	p.C103C		NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	103					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						NSCLC(53;1139 1245 16872 38474 42853)								0.182432	48.734108	62.756677	27	121	GG		KEEP	---	---	---	---	capture			Silent	SNP	59367138	59367138	6644	11	G	A	A	42	42	GIF	A	2	2
GIF	2694	broad.mit.edu	36	11	59367972	59367972	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59367972G>A	uc001noi.1	-	c.212C>T	c.(211-213)GCC>GTC	p.A71V		NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	71					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						NSCLC(53;1139 1245 16872 38474 42853)								0.283186	77.953959	82.724603	32	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59367972	59367972	6644	11	G	A	A	42	42	GIF	A	2	2
TCN1	6947	broad.mit.edu	36	11	59386674	59386674	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59386674G>A	uc001noj.2	-	c.357C>T	c.(355-357)ATC>ATT	p.I119I		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	119				I -> T (in Ref. 1; AAA61058).	cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(1)	1		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.373585	268.649211	272.371199	99	166	GG		KEEP	---	---	---	---	capture			Silent	SNP	59386674	59386674	16232	11	G	A	A	37	37	TCN1	A	1	1
PHRF1	57661	broad.mit.edu	36	11	595619	595619	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:595619C>T	uc001lqe.1	+	c.1349C>T	c.(1348-1350)TCT>TTT	p.S450F	PHRF1_uc009ybz.1_Missense_Mutation_p.S240F|PHRF1_uc009yca.1_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	450							RNA polymerase binding|zinc ion binding				0														0.381944	151.180903	152.944268	55	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	595619	595619	12285	11	C	T	T	32	32	PHRF1	T	2	2
OR52L1	338751	broad.mit.edu	36	11	5963982	5963982	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5963982C>T	uc001mcd.1	-	c.755G>A	c.(754-756)CGA>CAA	p.R252Q		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	252	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)				Melanoma(121;653 1666 10547 22796 51255)								0.388158	313.008237	316.360841	118	186	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5963982	5963982	11535	11	C	T	T	31	31	OR52L1	T	1	1
OR56A4	120793	broad.mit.edu	36	11	5979890	5979890	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5979890C>T	uc001mce.1	-	c.1065G>A	c.(1063-1065)AAG>AAA	p.K355K		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.248175	80.885498	88.78862	34	103	CC		KEEP	---	---	---	---	capture		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	5979890	5979890	11545	11	C	T	T	28	28	OR56A4	T	2	2
OR56A4	120793	broad.mit.edu	36	11	5980949	5980949	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5980949C>T	uc001mce.1	-	c.6G>A	c.(4-6)ATG>ATA	p.M2I		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	Error:Variant_position_missing_in_Q8NGH8_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.442748	153.602769	153.980814	58	73	CC		KEEP	---	---	---	---	capture		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5980949	5980949	11545	11	C	T	T	29	29	OR56A4	T	2	2
MS4A14	84689	broad.mit.edu	36	11	59939505	59939505	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59939505C>T	uc001npj.1	+	c.488C>T	c.(487-489)TCG>TTG	p.S163L	MS4A14_uc001npi.1_Missense_Mutation_p.S51L|MS4A14_uc001npn.1_5'UTR|MS4A14_uc001npk.1_Missense_Mutation_p.S146L|MS4A14_uc001npl.1_5'UTR|MS4A14_uc001npm.1_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	163						integral to membrane	receptor activity			breast(1)	1														0.414894	217.409536	218.599727	78	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59939505	59939505	10251	11	C	T	T	31	31	MS4A14	T	1	1
MS4A12	54860	broad.mit.edu	36	11	60030833	60030833	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60030833C>T	uc001npr.1	+	c.645C>T	c.(643-645)TTC>TTT	p.F215F		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	215	Helical; (Potential).					integral to membrane	receptor activity				0														0.161616	53.165341	74.745814	32	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	60030833	60030833	10249	11	C	T	T	31	31	MS4A12	T	1	1
OR56A1	120796	broad.mit.edu	36	11	6005276	6005276	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6005276C>T	uc001mcf.1	-	c.235G>A	c.(235-237)GTG>ATG	p.V79M		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	79	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.229885	84.40421	96.050498	40	134	CC		KEEP	---	---	---	---	capture		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	6005276	6005276	11543	11	C	T	T	19	19	OR56A1	T	1	1
MS4A8B	83661	broad.mit.edu	36	11	60227479	60227479	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60227479C>T	uc001npv.1	+	c.272C>T	c.(271-273)GCG>GTG	p.A91V	MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	membrane-spanning 4-domains, subfamily A, member	91	Helical; (Potential).					integral to membrane	receptor activity				0														0.405797	291.521457	293.667278	112	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60227479	60227479	10260	11	C	T	T	27	27	MS4A8B	T	1	1
MS4A10	341116	broad.mit.edu	36	11	60319634	60319634	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60319634C>T	uc001npz.1	+	c.523C>T	c.(523-525)CTC>TTC	p.L175F		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	175	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)	1														0.508475	78.032684	78.03611	30	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60319634	60319634	10248	11	C	T	T	28	28	MS4A10	T	2	2
ZP1	22917	broad.mit.edu	36	11	60397221	60397221	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60397221C>T	uc001nqd.1	+	c.1123C>T	c.(1123-1125)CGC>TGC	p.R375C	ZP1_uc001nqe.1_Missense_Mutation_p.R82C	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1	375	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0														0.21519	204.1354	239.61599	102	372	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60397221	60397221	18819	11	C	T	T	27	27	ZP1	T	1	1
TMEM132A	54972	broad.mit.edu	36	11	60458747	60458747	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60458747C>T	uc001nqi.1	+	c.1774C>T	c.(1774-1776)CGT>TGT	p.R592C	TMEM132A_uc001nqj.1_Missense_Mutation_p.R591C|TMEM132A_uc001nqm.1_5'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform a	591	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane					0														0.341463	34.042494	34.950683	14	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60458747	60458747	16576	11	C	T	T	27	27	TMEM132A	T	1	1
IRF7	3665	broad.mit.edu	36	11	605139	605139	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:605139G>A	uc001lqg.1	-	c.180C>T	c.(178-180)TTC>TTT	p.F60F	IRF7_uc009ycb.1_5'UTR|IRF7_uc001lqf.1_5'UTR|IRF7_uc001lqh.1_Silent_p.F47F|IRF7_uc001lqi.1_Silent_p.F47F	NM_004031	NP_004022	Q92985	IRF7_HUMAN	interferon regulatory factor 7 isoform d	47	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)												0.25	13.741139	15.103089	6	18	GG		KEEP	---	---	---	---	capture		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Silent	SNP	605139	605139	8138	11	G	A	A	37	37	IRF7	A	1	1
CD6	923	broad.mit.edu	36	11	60532746	60532746	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60532746C>T	uc001nqq.1	+	c.634C>T	c.(634-636)CCC>TCC	p.P212S	CD6_uc009yni.1_Missense_Mutation_p.P212S|CD6_uc009ynj.1_Missense_Mutation_p.P212S|CD6_uc001nqp.1_Missense_Mutation_p.P212S|CD6_uc001nqr.1_Missense_Mutation_p.P212S|CD6_uc001nqs.1_Non-coding_Transcript|CD6_uc001nqt.1_Missense_Mutation_p.P212S	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule	212	SRCR 2.|Extracellular (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						Pancreas(169;904 2017 4767 38890 42505)								0.533333	22.299804	22.31434	8	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60532746	60532746	3156	11	C	T	T	26	26	CD6	T	2	2
CD6	923	broad.mit.edu	36	11	60532859	60532859	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60532859C>T	uc001nqq.1	+	c.747C>T	c.(745-747)TGC>TGT	p.C249C	CD6_uc009yni.1_Silent_p.C249C|CD6_uc009ynj.1_Silent_p.C249C|CD6_uc001nqp.1_Silent_p.C249C|CD6_uc001nqr.1_Silent_p.C249C|CD6_uc001nqs.1_Non-coding_Transcript|CD6_uc001nqt.1_Silent_p.C249C	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule	249	SRCR 2.|Extracellular (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						Pancreas(169;904 2017 4767 38890 42505)								0.236842	19.355239	21.761448	9	29	CC		KEEP	---	---	---	---	capture			Silent	SNP	60532859	60532859	3156	11	C	T	T	27	27	CD6	T	1	1
CD5	921	broad.mit.edu	36	11	60642253	60642253	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60642253C>T	uc009ynk.1	+	c.125C>T	c.(124-126)TCG>TTG	p.S42L		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule	42	Extracellular (Potential).|SRCR 1.				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)												0.180272	97.11215	125.368262	53	241	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	Missense_Mutation	SNP	60642253	60642253	3149	11	C	T	T	31	31	CD5	T	1	1
VWCE	220001	broad.mit.edu	36	11	60805875	60805875	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60805875C>T	uc001nra.1	-	c.746G>A	c.(745-747)CGA>CAA	p.R249Q	VWCE_uc001nrb.1_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	249	EGF-like 4; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)	1														0.203822	62.413867	75.200182	32	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60805875	60805875	17816	11	C	T	T	31	31	VWCE	T	1	1
DDB1	1642	broad.mit.edu	36	11	60833847	60833847	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60833847C>T	uc001nrc.2	-	c.2563G>A	c.(2563-2565)GAT>AAT	p.D855N		NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	855	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.446429	141.423294	141.704867	50	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60833847	60833847	4494	11	C	T	T	30	30	DDB1	T	2	2
DDB1	1642	broad.mit.edu	36	11	60855688	60855688	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60855688C>A	uc001nrc.2	-	c.113G>T	c.(112-114)AGA>ATA	p.R38I	DDB1_uc001nrd.2_Missense_Mutation_p.R38I|DDB1_uc009ynl.1_Missense_Mutation_p.R38I|DAK_uc001nre.1_5'Flank	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	38	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.18797	40.761869	52.937496	25	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60855688	60855688	4494	11	C	A	A	32	32	DDB1	A	3	3
TMEM216	51259	broad.mit.edu	36	11	60921868	60921868	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60921868C>T	uc001nrn.1	+	c.93C>T	c.(91-93)AGC>AGT	p.S31S		NM_016499	NP_057583	Q9P0N5	TM216_HUMAN	transmembrane protein 216	85	Helical; (Potential).					integral to membrane					0														0.223368	131.210243	151.702686	65	226	CC		KEEP	---	---	---	---	capture			Silent	SNP	60921868	60921868	16675	11	C	T	T	27	27	TMEM216	T	1	1
CPSF7	79869	broad.mit.edu	36	11	60935142	60935142	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60935142C>T	uc001nrp.1	-	c.1265G>A	c.(1264-1266)CGC>CAC	p.R422H	CPSF7_uc001nro.1_Missense_Mutation_p.R413H|CPSF7_uc001nrq.1_Missense_Mutation_p.R422H|CPSF7_uc001nrr.1_Missense_Mutation_p.R413H	NM_024811	NP_079087	Q8N684	CPSF7_HUMAN	pre-mRNA cleavage factor I, 59 kDa subunit	422	Arg-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1														0.230469	123.131813	140.173294	59	197	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60935142	60935142	3969	11	C	T	T	27	27	CPSF7	T	1	1
CPSF7	79869	broad.mit.edu	36	11	60944077	60944077	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60944077T>G	uc001nrp.1	-	c.443A>C	c.(442-444)AAA>ACA	p.K148T	CPSF7_uc001nro.1_Missense_Mutation_p.K148T|CPSF7_uc001nrq.1_Missense_Mutation_p.K148T|CPSF7_uc001nrr.1_Missense_Mutation_p.K148T|CPSF7_uc001nrs.1_Missense_Mutation_p.K58T	NM_024811	NP_079087	Q8N684	CPSF7_HUMAN	pre-mRNA cleavage factor I, 59 kDa subunit	148	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1														0.478102	432.416035	432.529903	131	143	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60944077	60944077	3969	11	T	G	G	64	64	CPSF7	G	4	4
CDHR5	53841	broad.mit.edu	36	11	609493	609493	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:609493G>A	uc001lqj.1	-	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	CDHR5_uc001lqk.1_Missense_Mutation_p.A425V|CDHR5_uc009ycc.1_Missense_Mutation_p.A259V|CDHR5_uc009ycd.1_Missense_Mutation_p.A425V|CDHR5_uc001lql.1_Missense_Mutation_p.A425V|CDHR5_uc001lqm.2_Missense_Mutation_p.A259V|CDHR5_uc009yce.1_Missense_Mutation_p.A394V	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	425	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.398374	254.809898	257.026079	98	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	609493	609493	3251	11	G	A	A	38	38	CDHR5	A	1	1
SDHAF2	54949	broad.mit.edu	36	11	60970090	60970090	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60970090C>A	uc001nrt.1	+	c.472C>A	c.(472-474)CTT>ATT	p.L158I		NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN	hypothetical protein LOC54949	158					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			ovary(2)	2												OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.199115	85.128628	104.186258	45	181	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60970090	60970090	14450	11	C	A	A	32	32	SDHAF2	A	3	3
C11orf66	220004	broad.mit.edu	36	11	61006393	61006393	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61006393C>T	uc001nru.1	+	c.144C>T	c.(142-144)CAC>CAT	p.H48H	C11orf66_uc009ynq.1_Silent_p.H48H	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	48										ovary(1)	1												OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.330645	102.53712	105.686817	41	83	CC		KEEP	---	---	---	---	capture			Silent	SNP	61006393	61006393	1695	11	C	T	T	19	19	C11orf66	T	1	1
C11orf66	220004	broad.mit.edu	36	11	61006837	61006837	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61006837C>T	uc001nru.1	+	c.362C>T	c.(361-363)GCG>GTG	p.A121V	C11orf66_uc009ynq.1_Missense_Mutation_p.A121V	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	121										ovary(1)	1												OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.464286	69.439751	69.502186	26	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61006837	61006837	1695	11	C	T	T	27	27	C11orf66	T	1	1
C11orf66	220004	broad.mit.edu	36	11	61008753	61008753	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61008753C>T	uc001nru.1	+	c.399C>T	c.(397-399)TTC>TTT	p.F133F	C11orf66_uc009ynq.1_Silent_p.F133F	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	133										ovary(1)	1														0.377049	59.906044	60.71658	23	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	61008753	61008753	1695	11	C	T	T	31	31	C11orf66	T	1	1
DAGLA	747	broad.mit.edu	36	11	61244916	61244916	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61244916G>T	uc001nsa.1	+	c.285G>T	c.(283-285)CAG>CAT	p.Q95H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	95	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														0.185629	66.025024	81.496899	31	136	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(4;0.219)	Missense_Mutation	SNP	61244916	61244916	4393	11	G	T	T	36	36	DAGLA	T	3	3
C11orf9	745	broad.mit.edu	36	11	61302441	61302441	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61302441G>T	uc001nsc.1	+	c.1917G>T	c.(1915-1917)CAG>CAT	p.Q639H	C11orf9_uc001nse.1_Missense_Mutation_p.Q630H	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	hypothetical protein LOC745 isoform 2	639					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1														0.1875	107.6278	136.889992	60	260	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61302441	61302441	1711	11	G	T	T	35	35	C11orf9	T	3	3
C11orf9	745	broad.mit.edu	36	11	61302516	61302516	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61302516G>T	uc001nsc.1	+	c.1992G>T	c.(1990-1992)GAG>GAT	p.E664D	C11orf9_uc001nse.1_Missense_Mutation_p.E655D	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	hypothetical protein LOC745 isoform 2	664					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1														0.179245	62.703609	83.249298	38	174	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61302516	61302516	1711	11	G	T	T	33	33	C11orf9	T	3	3
OR52B2	255725	broad.mit.edu	36	11	6147324	6147324	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6147324A>G	uc001mch.1	-	c.809T>C	c.(808-810)ATT>ACT	p.I270T		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)				NSCLC(5;186 261 1778 7098 14207)								0.241379	94.560852	103.401808	35	110	AA		KEEP	---	---	---	---	capture		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	6147324	6147324	11521	11	A	G	G	4	4	OR52B2	G	4	4
CDHR5	53841	broad.mit.edu	36	11	614733	614733	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:614733C>A	uc001lqj.1	-	c.86_splice	c.e2-1	p.Y29_splice	CDHR5_uc001lqk.1_Splice_Site_SNP_p.Y29_splice|CDHR5_uc009ycc.1_Splice_Site_SNP|CDHR5_uc009ycd.1_Splice_Site_SNP_p.Y29_splice|CDHR5_uc001lql.1_Splice_Site_SNP_p.Y29_splice|CDHR5_uc001lqm.2_Splice_Site_SNP|CDHR5_uc009yce.1_Splice_Site_SNP_p.Y29_splice|CDHR5_uc001lqn.1_Splice_Site_SNP_p.Y29_splice	NM_021924	NP_068743			mucin and cadherin-like isoform 1						calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.173653	46.261638	63.068561	29	138	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	614733	614733	3251	11	C	A	A	32	32	CDHR5	A	5	3
BEST1	7439	broad.mit.edu	36	11	61480893	61480893	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61480893C>A	uc001nsr.1	+	c.303C>A	c.(301-303)GGC>GGA	p.G101G	BEST1_uc001nsq.1_Silent_p.G55G|BEST1_uc001nss.1_Silent_p.G161G|BEST1_uc009ynt.1_Non-coding_Transcript|BEST1_uc001nst.1_Silent_p.G101G	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	161	Cytoplasmic (Potential).				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1														0.158273	169.166016	246.623173	110	585	CC		KEEP	---	---	---	---	capture			Silent	SNP	61480893	61480893	1427	11	C	A	A	28	28	BEST1	A	3	3
BEST1	7439	broad.mit.edu	36	11	61484044	61484044	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61484044C>T	uc001nsr.1	+	c.873C>T	c.(871-873)TCC>TCT	p.S291S	BEST1_uc001nss.1_Silent_p.S351S|BEST1_uc009ynt.1_Non-coding_Transcript|BEST1_uc001nst.1_Silent_p.S264S	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	351	Cytoplasmic (Potential).				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1														0.444444	70.293766	70.438678	24	30	CC		KEEP	---	---	---	---	capture			Silent	SNP	61484044	61484044	1427	11	C	T	T	23	23	BEST1	T	1	1
BEST1	7439	broad.mit.edu	36	11	61486728	61486728	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61486728C>T	uc001nsr.1	+	c.1346C>T	c.(1345-1347)GCC>GTC	p.A449V	BEST1_uc001nss.1_Missense_Mutation_p.A509V|BEST1_uc009ynt.1_Non-coding_Transcript|BEST1_uc001nst.1_Missense_Mutation_p.A422V	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	509	Cytoplasmic (Potential).				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1														0.184211	39.142228	49.785096	21	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61486728	61486728	1427	11	C	T	T	26	26	BEST1	T	2	2
INCENP	3619	broad.mit.edu	36	11	61665042	61665042	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61665042G>A	uc001nsw.1	+	c.1543G>A	c.(1543-1545)GTC>ATC	p.V515I	INCENP_uc009ynw.1_Missense_Mutation_p.V515I|INCENP_uc001nsx.1_Missense_Mutation_p.V515I	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	515					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1														0.429825	132.849609	133.340224	49	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61665042	61665042	8034	11	G	A	A	40	40	INCENP	A	1	1
C11orf42	160298	broad.mit.edu	36	11	6188833	6188833	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6188833C>T	uc001mcj.1	+	c.987C>T	c.(985-987)TTC>TTT	p.F329F		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	hypothetical protein LOC160298	329										ovary(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.473684	128.811367	128.864283	45	50	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	6188833	6188833	1680	11	C	T	T	31	31	C11orf42	T	1	1
SCGB1A1	7356	broad.mit.edu	36	11	61943154	61943154	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61943154C>T	uc001ntj.1	+	c.11C>T	c.(10-12)GCT>GTT	p.A4V		NM_003357	NP_003348	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1	4					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity				0														0.390476	114.679876	115.772745	41	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61943154	61943154	14375	11	C	T	T	28	28	SCGB1A1	T	2	2
FAM160A2	84067	broad.mit.edu	36	11	6201984	6201984	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6201984C>T	uc001mck.2	-	c.209G>A	c.(208-210)CGC>CAC	p.R70H	FAM160A2_uc001mcl.2_Missense_Mutation_p.R70H|FAM160A2_uc001mcm.2_Missense_Mutation_p.R70H	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 1	70					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding				0														0.473684	194.875119	194.967204	72	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6201984	6201984	5673	11	C	T	T	27	27	FAM160A2	T	1	1
AHNAK	79026	broad.mit.edu	36	11	62043794	62043794	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62043794C>T	uc001ntl.1	-	c.14671G>A	c.(14671-14673)GAT>AAT	p.D4891N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4891					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.183432	61.318829	77.220299	31	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62043794	62043794	417	11	C	T	T	30	30	AHNAK	T	2	2
AHNAK	79026	broad.mit.edu	36	11	62044205	62044205	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62044205C>A	uc001ntl.1	-	c.14260G>T	c.(14260-14262)GAA>TAA	p.E4754*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4754					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.1875	134.489349	172.561619	78	338	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	62044205	62044205	417	11	C	A	A	32	32	AHNAK	A	5	3
AHNAK	79026	broad.mit.edu	36	11	62044359	62044359	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62044359C>T	uc001ntl.1	-	c.14106G>A	c.(14104-14106)GCG>GCA	p.A4702A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4702					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.188034	207.296173	260.614213	110	475	CC		KEEP	---	---	---	---	capture			Silent	SNP	62044359	62044359	417	11	C	T	T	31	31	AHNAK	T	1	1
AHNAK	79026	broad.mit.edu	36	11	62045422	62045422	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62045422G>T	uc001ntl.1	-	c.13043C>A	c.(13042-13044)TCT>TAT	p.S4348Y	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4348					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.522523	485.313684	485.458117	174	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62045422	62045422	417	11	G	T	T	33	33	AHNAK	T	3	3
AHNAK	79026	broad.mit.edu	36	11	62048436	62048436	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62048436G>A	uc001ntl.1	-	c.10029C>T	c.(10027-10029)ATC>ATT	p.I3343I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3343					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.434524	205.643234	206.272082	73	95	GG		KEEP	---	---	---	---	capture			Silent	SNP	62048436	62048436	417	11	G	A	A	37	37	AHNAK	A	1	1
AHNAK	79026	broad.mit.edu	36	11	62051643	62051643	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62051643G>T	uc001ntl.1	-	c.6822C>A	c.(6820-6822)GTC>GTA	p.V2274V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2274					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.423831	748.485671	751.856463	281	382	GG		KEEP	---	---	---	---	capture			Silent	SNP	62051643	62051643	417	11	G	T	T	33	33	AHNAK	T	3	3
AHNAK	79026	broad.mit.edu	36	11	62053753	62053753	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62053753C>A	uc001ntl.1	-	c.4712G>T	c.(4711-4713)AGC>ATC	p.S1571I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1571					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.409091	376.539527	378.928074	135	195	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62053753	62053753	417	11	C	A	A	28	28	AHNAK	A	3	3
AHNAK	79026	broad.mit.edu	36	11	62056370	62056370	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62056370T>C	uc001ntl.1	-	c.2095A>G	c.(2095-2097)ATG>GTG	p.M699V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	699					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.214829	257.915972	297.388394	113	413	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62056370	62056370	417	11	T	C	C	51	51	AHNAK	C	4	4
AHNAK	79026	broad.mit.edu	36	11	62057529	62057529	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62057529C>T	uc001ntl.1	-	c.936G>A	c.(934-936)CCG>CCA	p.P312P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	312					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.472868	347.937547	348.101469	122	136	CC		KEEP	---	---	---	---	capture			Silent	SNP	62057529	62057529	417	11	C	T	T	31	31	AHNAK	T	1	1
AHNAK	79026	broad.mit.edu	36	11	62058038	62058038	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62058038G>A	uc001ntl.1	-	c.427C>T	c.(427-429)CTC>TTC	p.L143F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	143					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.181818	59.051656	74.747654	30	135	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62058038	62058038	417	11	G	A	A	35	35	AHNAK	A	2	2
TUT1	64852	broad.mit.edu	36	11	62099392	62099392	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62099392C>A	uc001nto.1	-	c.2375G>T	c.(2374-2376)GGA>GTA	p.G792V	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.G326V	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	792					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2														0.17301	71.005736	100.204838	50	239	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62099392	62099392	17336	11	C	A	A	30	30	TUT1	A	3	3
TUT1	64852	broad.mit.edu	36	11	62099946	62099946	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62099946C>T	uc001nto.1	-	c.1821G>A	c.(1819-1821)ACG>ACA	p.T607T	EEF1G_uc001ntm.1_5'Flank|TUT1_uc001ntp.1_Silent_p.T141T	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	607					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2														0.183857	72.968414	93.868729	41	182	CC		KEEP	---	---	---	---	capture			Silent	SNP	62099946	62099946	17336	11	C	T	T	27	27	TUT1	T	1	1
TUT1	64852	broad.mit.edu	36	11	62103050	62103050	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62103050G>A	uc001nto.1	-	c.719C>T	c.(718-720)TCG>TTG	p.S240L	TUT1_uc001ntp.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	240	Pro-rich.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2														0.148148	14.440533	24.080656	12	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62103050	62103050	17336	11	G	A	A	37	37	TUT1	A	1	1
MTA2	9219	broad.mit.edu	36	11	62119473	62119473	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62119473G>A	uc001ntq.1	-	c.1322C>T	c.(1321-1323)GCC>GTC	p.A441V		NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	441					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.23565	173.088273	194.239881	78	253	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62119473	62119473	10302	11	G	A	A	42	42	MTA2	A	2	2
EML3	256364	broad.mit.edu	36	11	62129752	62129752	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62129752C>T	uc001ntu.1	-	c.1852G>A	c.(1852-1854)GAC>AAC	p.D618N	EML3_uc001ntr.1_Missense_Mutation_p.D590N|EML3_uc001nts.1_Missense_Mutation_p.D590N|EML3_uc001ntt.1_Missense_Mutation_p.D502N	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	618	WD 6.					cytoplasm|microtubule	protein binding				0														0.446154	78.76762	78.931133	29	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62129752	62129752	5290	11	C	T	T	31	31	EML3	T	1	1
CNGA4	1262	broad.mit.edu	36	11	6218134	6218134	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6218134C>T	uc001mco.2	+	c.534C>T	c.(532-534)GTC>GTT	p.V178V	CNGA4_uc001mcn.2_Silent_p.V138V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	178	Helical; Name=H4; (Potential).				response to stimulus|sensory perception of smell		cAMP binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)												0.190678	83.758453	104.855849	45	191	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	6218134	6218134	3737	11	C	T	T	31	31	CNGA4	T	1	1
CNGA4	1262	broad.mit.edu	36	11	6218257	6218257	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6218257C>A	uc001mco.2	+	c.657C>A	c.(655-657)CTC>CTA	p.L219L	CNGA4_uc001mcn.2_Silent_p.L179L	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	219	Helical; Name=H5; (Potential).				response to stimulus|sensory perception of smell		cAMP binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)												0.183673	90.349843	117.991056	54	240	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	6218257	6218257	3737	11	C	A	A	32	32	CNGA4	A	3	3
UBXN1	51035	broad.mit.edu	36	11	62201832	62201832	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62201832C>A	uc001nuj.1	-	c.531G>T	c.(529-531)AAG>AAT	p.K177N	UBXN1_uc001nul.1_Missense_Mutation_p.K177N|UBXN1_uc001num.1_Missense_Mutation_p.K173N|UBXN1_uc001nuk.2_Missense_Mutation_p.K142N	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	177	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.4	325.985677	328.710678	124	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62201832	62201832	17469	11	C	A	A	32	32	UBXN1	A	3	3
TTC9C	283237	broad.mit.edu	36	11	62259466	62259466	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62259466G>A	uc001nux.1	+	c.674G>A	c.(673-675)CGA>CAA	p.R225Q	TTC9C_uc001nuy.1_Missense_Mutation_p.R92Q	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	92	TPR 2.						binding			ovary(1)|pancreas(1)	2														0.195531	69.92648	85.395451	35	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62259466	62259466	17272	11	G	A	A	37	37	TTC9C	A	1	1
TTC9C	283237	broad.mit.edu	36	11	62262374	62262374	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62262374G>T	uc001nux.1	+	c.859G>T	c.(859-861)GAA>TAA	p.E287*	TTC9C_uc001nuy.1_Nonsense_Mutation_p.E154*	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	154							binding			ovary(1)|pancreas(1)	2														0.213333	29.153435	34.856139	16	59	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	62262374	62262374	17272	11	G	T	T	33	33	TTC9C	T	5	3
ZBTB3	79842	broad.mit.edu	36	11	62277620	62277620	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62277620A>G	uc001nuz.1	-	c.243T>C	c.(241-243)GGT>GGC	p.G81G		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	81	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2														0.369565	102.450718	103.815996	34	58	AA		KEEP	---	---	---	---	capture			Silent	SNP	62277620	62277620	18120	11	A	G	G	14	14	ZBTB3	G	4	4
TAF6L	10629	broad.mit.edu	36	11	62306164	62306164	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62306164A>C	uc001nvc.1	+	c.610A>C	c.(610-612)AAA>CAA	p.K204Q	TAF6L_uc009yof.1_Missense_Mutation_p.K204Q	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	204					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|RNA polymerase II transcription factor activity|transcription coactivator activity|transcription initiation factor activity			ovary(3)	3														0.486188	287.210288	287.239395	88	93	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62306164	62306164	16052	11	A	C	C	9	9	TAF6L	C	4	4
STX5	6811	broad.mit.edu	36	11	62348563	62348563	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62348563C>T	uc001nvh.1	-	c.730G>A	c.(730-732)GCC>ACC	p.A244T	STX5_uc001nvi.1_Missense_Mutation_p.A190T|STX5_uc009yoh.1_Non-coding_Transcript|STX5_uc001nvj.1_Missense_Mutation_p.A59T	NM_003164	NP_003155	Q13190	STX5_HUMAN	syntaxin 5	244	Cytoplasmic (Potential).				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			ovary(1)|breast(1)	2														0.207692	108.221133	128.795369	54	206	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62348563	62348563	15868	11	C	T	T	27	27	STX5	T	1	1
WDR74	54663	broad.mit.edu	36	11	62359844	62359844	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62359844C>A	uc001nvm.1	-	c.415G>T	c.(415-417)GAC>TAC	p.D139Y	WDR74_uc001nvk.1_Missense_Mutation_p.D82Y|WDR74_uc001nvl.1_Missense_Mutation_p.D139Y|WDR74_uc001nvn.1_Missense_Mutation_p.D191Y|WDR74_uc009yoi.1_Missense_Mutation_p.D139Y	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	WD repeat domain 74	139	WD 3.					nucleolus				ovary(1)	1														0.12963	7.183447	14.400493	7	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62359844	62359844	17897	11	C	A	A	32	32	WDR74	A	3	3
CCKBR	887	broad.mit.edu	36	11	6249197	6249197	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6249197C>T	uc001mcs.2	+	c.1399C>T	c.(1399-1401)CGC>TGC	p.R467C	CCKBR_uc001mcr.2_Intron|CCKBR_uc001mcp.1_Missense_Mutation_p.R398C|CCKBR_uc001mcq.1_Missense_Mutation_p.R326C	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	398	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception	integral to plasma membrane	1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			ovary(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)			Pentagastrin(DB00183)									0.227273	110.303679	126.832195	55	187	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Missense_Mutation	SNP	6249197	6249197	3006	11	C	T	T	31	31	CCKBR	T	1	1
SLC22A25	387601	broad.mit.edu	36	11	62688016	62688016	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62688016G>T	uc001nwr.1	-	c.1500C>A	c.(1498-1500)ATC>ATA	p.I500I	SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	500	Helical; Name=12; (Potential).				transmembrane transport	integral to membrane				ovary(3)	3														0.429467	353.341813	354.738241	137	182	GG		KEEP	---	---	---	---	capture			Silent	SNP	62688016	62688016	14951	11	G	T	T	33	33	SLC22A25	T	3	3
SLC22A25	387601	broad.mit.edu	36	11	62741664	62741664	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62741664G>T	uc001nwr.1	-	c.626C>A	c.(625-627)GCT>GAT	p.A209D	SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.A209D	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	209	Helical; Name=4; (Potential).				transmembrane transport	integral to membrane				ovary(3)	3														0.431818	101.826498	102.184749	38	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62741664	62741664	14951	11	G	T	T	34	34	SLC22A25	T	3	3
SLC22A9	114571	broad.mit.edu	36	11	62932223	62932223	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62932223C>T	uc001nww.1	+	c.1352C>T	c.(1351-1353)ACC>ATC	p.T451I	SLC22A9_uc001nwx.1_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	451	Helical; (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3														0.183673	28.988837	38.206034	18	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62932223	62932223	14958	11	C	T	T	18	18	SLC22A9	T	2	2
PRKCDBP	112464	broad.mit.edu	36	11	6296974	6296974	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6296974C>T	uc001mcu.1	-	c.781G>A	c.(781-783)GCC>ACC	p.A261T		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	261											0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)												0.19305	308.544933	376.866775	150	627	CC		KEEP	---	---	---	---	capture		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Missense_Mutation	SNP	6296974	6296974	12953	11	C	T	T	28	28	PRKCDBP	T	2	2
LGALS12	85329	broad.mit.edu	36	11	63033912	63033912	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63033912C>A	uc001nxa.1	+	c.525C>A	c.(523-525)ATC>ATA	p.I175I	LGALS12_uc001nxb.1_Silent_p.I153I|LGALS12_uc001nxc.1_Silent_p.I154I|LGALS12_uc001nxd.1_Silent_p.I114I|LGALS12_uc001nxe.1_Silent_p.I114I|LGALS12_uc009yot.1_Silent_p.I135I	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	175	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2														0.476636	138.848742	138.896464	51	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	63033912	63033912	9064	11	C	A	A	30	30	LGALS12	A	3	3
LGALS12	85329	broad.mit.edu	36	11	63035806	63035806	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63035806C>T	uc001nxa.1	+	c.631C>T	c.(631-633)CCC>TCC	p.P211S	LGALS12_uc001nxb.1_Missense_Mutation_p.P180S|LGALS12_uc001nxc.1_Missense_Mutation_p.P190S|LGALS12_uc001nxd.1_Missense_Mutation_p.P150S|LGALS12_uc001nxe.1_Missense_Mutation_p.P141S|LGALS12_uc009yot.1_Missense_Mutation_p.P171S	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	211					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2														0.479532	224.838596	224.900312	82	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63035806	63035806	9064	11	C	T	T	26	26	LGALS12	T	2	2
LGALS12	85329	broad.mit.edu	36	11	63039707	63039707	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63039707G>A	uc001nxa.1	+	c.810G>A	c.(808-810)GGG>GGA	p.G270G	LGALS12_uc001nxb.1_Silent_p.G239G|LGALS12_uc001nxc.1_Silent_p.G249G|LGALS12_uc001nxd.1_Silent_p.G209G|LGALS12_uc001nxe.1_Silent_p.G200G|LGALS12_uc009yot.1_Silent_p.G230G	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	270	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2														0.183432	55.520651	71.440001	31	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	63039707	63039707	9064	11	G	A	A	42	42	LGALS12	A	2	2
LGALS12	85329	broad.mit.edu	36	11	63040355	63040355	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63040355G>A	uc001nxa.1	+	c.925G>A	c.(925-927)GCC>ACC	p.A309T	LGALS12_uc001nxb.1_Missense_Mutation_p.A278T|LGALS12_uc001nxc.1_Missense_Mutation_p.A288T|LGALS12_uc001nxd.1_Missense_Mutation_p.A248T|LGALS12_uc001nxe.1_Missense_Mutation_p.A239T|LGALS12_uc009yot.1_Missense_Mutation_p.A269T	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	309	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2														0.548571	250.881825	251.249125	96	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63040355	63040355	9064	11	G	A	A	42	42	LGALS12	A	2	2
RTN3	10313	broad.mit.edu	36	11	63244644	63244644	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63244644C>T	uc001nxq.1	+	c.2094C>T	c.(2092-2094)TCC>TCT	p.S698S	RTN3_uc001nxo.1_Intron|RTN3_uc001nxm.1_Intron|RTN3_uc001nxn.1_Silent_p.S679S|RTN3_uc001nxp.1_Intron|RTN3_uc009yov.1_Silent_p.S586S	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	698					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1														0.191176	54.769004	66.89258	26	110	CC		KEEP	---	---	---	---	capture			Silent	SNP	63244644	63244644	14207	11	C	T	T	23	23	RTN3	T	1	1
RTN3	10313	broad.mit.edu	36	11	63276655	63276655	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63276655C>T	uc001nxq.1	+	c.2839C>T	c.(2839-2841)CGT>TGT	p.R947C	RTN3_uc001nxo.1_Missense_Mutation_p.R151C|RTN3_uc001nxm.1_Missense_Mutation_p.R170C|RTN3_uc001nxn.1_Missense_Mutation_p.R928C|RTN3_uc001nxp.1_Missense_Mutation_p.R151C|RTN3_uc009yov.1_Missense_Mutation_p.R835C	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	947	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1														0.467562	597.44162	597.849127	209	238	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63276655	63276655	14207	11	C	T	T	31	31	RTN3	T	1	1
RCOR2	283248	broad.mit.edu	36	11	63436410	63436410	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63436410C>A	uc001nyc.1	-	c.1200G>T	c.(1198-1200)ATG>ATT	p.M400I		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1														0.205882	96.529307	115.635224	49	189	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63436410	63436410	13652	11	C	A	A	21	21	RCOR2	A	3	3
TRPT1	83707	broad.mit.edu	36	11	63748699	63748699	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63748699T>C	uc001nyo.1	-	c.394A>G	c.(394-396)ACA>GCA	p.T132A	TRPT1_uc001nyn.1_Missense_Mutation_p.T83A|NUDT22_uc009ypd.1_5'Flank|NUDT22_uc001nyp.2_5'Flank|NUDT22_uc009ype.1_5'Flank|NUDT22_uc001nyq.2_5'Flank	NM_001033678	NP_113660	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1 isoform 1	132							tRNA 2'-phosphotransferase activity				0														0.197368	70.28207	83.235303	30	122	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63748699	63748699	17145	11	T	C	C	57	57	TRPT1	C	4	4
PLCB3	5331	broad.mit.edu	36	11	63780712	63780712	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63780712G>T	uc001nzb.2	+	c.912G>T	c.(910-912)GAG>GAT	p.E304D	PLCB3_uc009ypg.1_Missense_Mutation_p.E304D|PLCB3_uc009yph.1_Missense_Mutation_p.E237D|PLCB3_uc009ypi.1_Missense_Mutation_p.E304D	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C, beta 3	304					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2														0.507353	184.151143	184.157169	69	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63780712	63780712	12455	11	G	T	T	33	33	PLCB3	T	3	3
GPR137	56834	broad.mit.edu	36	11	63810598	63810598	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63810598T>C	uc001nzg.1	+	c.26T>C	c.(25-27)GTG>GCG	p.V9A	BAD_uc001nzc.1_5'Flank|BAD_uc001nzd.1_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.V15A|BAD_uc009ypk.1_5'Flank|GPR137_uc001nze.1_Missense_Mutation_p.V9A|GPR137_uc001nzf.2_Missense_Mutation_p.V9A|GPR137_uc001nzh.1_Missense_Mutation_p.V9A|GPR137_uc001nzi.2_Missense_Mutation_p.V9A	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	9	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1										60				0.438356	185.662258	186.146842	64	82	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63810598	63810598	6919	11	T	C	C	59	59	GPR137	C	4	4
GPR137	56834	broad.mit.edu	36	11	63812447	63812447	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63812447C>T	uc001nzg.1	+	c.843C>T	c.(841-843)TTC>TTT	p.F281F	GPR137_uc001nzf.2_Silent_p.F231F|GPR137_uc001nzi.2_Silent_p.F281F|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	281	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1										60				0.445545	502.620474	503.665862	180	224	CC		KEEP	---	---	---	---	capture			Silent	SNP	63812447	63812447	6919	11	C	T	T	31	31	GPR137	T	1	1
APBB1	322	broad.mit.edu	36	11	6381323	6381323	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6381323C>A	uc001mdb.1	-	c.925G>T	c.(925-927)GAA>TAA	p.E309*	APBB1_uc001mcz.1_5'Flank|APBB1_uc001mda.2_5'UTR|APBB1_uc001mdc.1_Nonsense_Mutation_p.E309*|APBB1_uc009yey.1_Nonsense_Mutation_p.E50*|APBB1_uc009yez.1_Nonsense_Mutation_p.E89*|APBB1_uc009yfa.1_Nonsense_Mutation_p.E50*|APBB1_uc001mdd.2_Nonsense_Mutation_p.E89*|APBB1_uc009yfb.1_Nonsense_Mutation_p.E50*|APBB1_uc001mde.2_Nonsense_Mutation_p.E50*	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	309					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription activator activity|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)				GBM(147;1810 2556 5672 39622)								0.268293	98.210812	106.171794	44	120	CC		KEEP	---	---	---	---	capture		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	Nonsense_Mutation	SNP	6381323	6381323	769	11	C	A	A	32	32	APBB1	A	5	3
ESRRA	2101	broad.mit.edu	36	11	63838918	63838918	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63838918G>A	uc001nzq.1	+	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	ESRRA_uc001nzr.1_Missense_Mutation_p.R233Q|ESRRA_uc001nzs.1_Missense_Mutation_p.R234Q|ESRRA_uc009ypn.1_Intron	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	234	Ligand binding domain.				positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0														0.514019	160.221993	160.240205	55	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63838918	63838918	5453	11	G	A	A	37	37	ESRRA	A	1	1
HPX	3263	broad.mit.edu	36	11	6409271	6409271	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6409271G>A	uc001mdg.1	-	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	HPX_uc001mdf.1_Missense_Mutation_p.R125W|HPX_uc009yfc.1_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin	379					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.254902	54.019204	59.570457	26	76	GG		KEEP	---	---	---	---	capture		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	Missense_Mutation	SNP	6409271	6409271	7638	11	G	A	A	38	38	HPX	A	1	1
SLC22A11	55867	broad.mit.edu	36	11	64095034	64095034	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64095034A>G	uc001oai.1	+	c.1597A>G	c.(1597-1599)ACA>GCA	p.T533A	SLC22A11_uc001oaj.1_Missense_Mutation_p.T464A|SLC22A11_uc009ypq.1_Missense_Mutation_p.T425A	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	533	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)									0.358974	319.184841	323.961405	98	175	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64095034	64095034	14938	11	A	G	G	2	2	SLC22A11	G	4	4
NRXN2	9379	broad.mit.edu	36	11	64184842	64184842	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64184842T>C	uc001oar.1	-	c.2144A>G	c.(2143-2145)GAC>GGC	p.D715G	NRXN2_uc001oas.1_Missense_Mutation_p.D684G|NRXN2_uc001oaq.1_Missense_Mutation_p.D382G	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				ovary(2)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	6														0.347561	179.745013	183.099902	57	107	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64184842	64184842	11071	11	T	C	C	58	58	NRXN2	C	4	4
RASGRP2	10235	broad.mit.edu	36	11	64253037	64253037	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64253037G>A	uc009ypu.1	-	c.1645C>T	c.(1645-1647)CGG>TGG	p.R549W	RASGRP2_uc001oat.1_Missense_Mutation_p.R451W|RASGRP2_uc001oau.1_Missense_Mutation_p.R404W|RASGRP2_uc009ypv.1_Missense_Mutation_p.R549W|RASGRP2_uc009ypw.1_Missense_Mutation_p.R549W	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	549					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0														0.25641	22.930812	25.030108	10	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64253037	64253037	13536	11	G	A	A	37	37	RASGRP2	A	1	1
PYGM	5837	broad.mit.edu	36	11	64271023	64271023	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64271023G>A	uc001oax.2	-	c.2325C>T	c.(2323-2325)TTC>TTT	p.F775F	RASGRP2_uc009ypu.1_5'Flank|RASGRP2_uc009ypv.1_5'Flank|RASGRP2_uc009ypw.1_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.2_Silent_p.F687F	NM_005609	NP_005600	P11217	PYGM_HUMAN	glycogen phosphorylase	775					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)									0.446009	266.686668	267.228738	95	118	GG		KEEP	---	---	---	---	capture			Silent	SNP	64271023	64271023	13320	11	G	A	A	37	37	PYGM	A	1	1
PYGM	5837	broad.mit.edu	36	11	64274457	64274457	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64274457C>T	uc001oax.2	-	c.2144G>A	c.(2143-2145)CGG>CAG	p.R715Q	PYGM_uc001oay.2_Missense_Mutation_p.R627Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	glycogen phosphorylase	715					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)									0.40281	505.149689	508.664039	172	255	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64274457	64274457	13320	11	C	T	T	23	23	PYGM	T	1	1
PYGM	5837	broad.mit.edu	36	11	64282309	64282309	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64282309G>T	uc001oax.2	-	c.513C>A	c.(511-513)ATC>ATA	p.I171I	PYGM_uc001oay.2_Silent_p.I83I	NM_005609	NP_005600	P11217	PYGM_HUMAN	glycogen phosphorylase	171					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)									0.15873	72.541275	107.525963	50	265	GG		KEEP	---	---	---	---	capture			Silent	SNP	64282309	64282309	13320	11	G	T	T	33	33	PYGM	T	3	3
PYGM	5837	broad.mit.edu	36	11	64282495	64282495	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64282495G>A	uc001oax.2	-	c.414C>T	c.(412-414)GGC>GGT	p.G138G	PYGM_uc001oay.2_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	glycogen phosphorylase	138					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)									0.428986	404.131662	405.649028	148	197	GG		KEEP	---	---	---	---	capture			Silent	SNP	64282495	64282495	13320	11	G	A	A	42	42	PYGM	A	2	2
SF1	7536	broad.mit.edu	36	11	64293357	64293357	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64293357C>A	uc001oaz.1	-	c.1068G>T	c.(1066-1068)GAG>GAT	p.E356D	SF1_uc001oba.1_Missense_Mutation_p.E231D|SF1_uc001obb.1_Missense_Mutation_p.E231D|SF1_uc001obc.1_Missense_Mutation_p.E231D|SF1_uc001obd.1_Missense_Mutation_p.E231D|SF1_uc001obe.1_Missense_Mutation_p.E116D	NM_201998	NP_973727	Q15637	SF01_HUMAN	splicing factor 1 isoform 3	231					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3														0.191617	58.298558	73.144674	32	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64293357	64293357	14634	11	C	A	A	32	32	SF1	A	3	3
MAP4K2	5871	broad.mit.edu	36	11	64314294	64314294	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64314294G>A	uc001obh.1	-	c.2190C>T	c.(2188-2190)GGC>GGT	p.G730G	MAP4K2_uc001obg.1_Non-coding_Transcript|MAP4K2_uc001obi.1_Silent_p.G722G	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	730	CNH.				immune response|JNK cascade|protein phosphorylation|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2										392				0.507812	176.562179	176.568978	65	63	GG		KEEP	---	---	---	---	capture			Silent	SNP	64314294	64314294	9643	11	G	A	A	38	38	MAP4K2	A	1	1
MEN1	4221	broad.mit.edu	36	11	64328642	64328642	+	Missense_Mutation	SNP	T	C	C	rs71581760	unknown	TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64328642T>C	uc001obj.1	-	c.1588A>G	c.(1588-1590)ACA>GCA	p.T530A	MAP4K2_uc001obh.1_5'Flank|MAP4K2_uc001obi.1_5'Flank|MEN1_uc001obk.1_Missense_Mutation_p.T530A|MEN1_uc001obl.1_Missense_Mutation_p.T490A|MEN1_uc001obm.1_Missense_Mutation_p.T525A|MEN1_uc001obn.1_Missense_Mutation_p.T530A|MEN1_uc001obo.1_Missense_Mutation_p.T530A|MEN1_uc001obp.1_Missense_Mutation_p.T525A|MEN1_uc001obq.1_Missense_Mutation_p.T530A|MEN1_uc001obr.1_Missense_Mutation_p.T530A	NM_130800	NP_570716	O00255	MEN1_HUMAN	menin isoform 1	530					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 transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|R-SMAD binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(8)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	237						Esophageal Squamous(1;83 158 15500 18603 18803 29295)				75				0.285714	47.674659	50.557618	20	50	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64328642	64328642	9861	11	T	C	C	59	59	MEN1	C	4	4
MEN1	4221	broad.mit.edu	36	11	64333873	64333873	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64333873G>A	uc001obj.1	-	c.285C>T	c.(283-285)GCC>GCT	p.A95A	MEN1_uc001obk.1_Silent_p.A95A|MEN1_uc001obl.1_Silent_p.A95A|MEN1_uc001obm.1_Silent_p.A95A|MEN1_uc001obn.1_Silent_p.A95A|MEN1_uc001obo.1_Silent_p.A95A|MEN1_uc001obp.1_Silent_p.A95A|MEN1_uc001obq.1_Silent_p.A95A|MEN1_uc001obr.1_Silent_p.A95A	NM_130800	NP_570716	O00255	MEN1_HUMAN	menin isoform 1	95			Missing (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 transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|R-SMAD binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(8)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	237						Esophageal Squamous(1;83 158 15500 18603 18803 29295)				75				0.219512	43.606425	49.548124	18	64	GG		KEEP	---	---	---	---	capture			Silent	SNP	64333873	64333873	9861	11	G	A	A	43	43	MEN1	A	2	2
ATG2A	23130	broad.mit.edu	36	11	64421967	64421967	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64421967G>A	uc001obx.1	-	c.4914C>T	c.(4912-4914)GGC>GGT	p.G1638G	ATG2A_uc001obw.1_Silent_p.G403G	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	ATG2 autophagy related 2 homolog A	1638							protein binding			ovary(1)|central_nervous_system(1)	2														0.207792	61.026333	73.204502	32	122	GG		KEEP	---	---	---	---	capture			Silent	SNP	64421967	64421967	1112	11	G	A	A	38	38	ATG2A	A	1	1
C11orf85	283129	broad.mit.edu	36	11	64483439	64483439	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64483439G>T	uc001ocb.1	-	c.15C>A	c.(13-15)CCC>CCA	p.P5P	C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Silent_p.P5P	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	hypothetical protein LOC283129	5											0														0.221591	83.522566	96.084589	39	137	GG		KEEP	---	---	---	---	capture			Silent	SNP	64483439	64483439	1707	11	G	T	T	35	35	C11orf85	T	3	3
ARFIP2	23647	broad.mit.edu	36	11	6455678	6455678	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6455678C>T	uc001mdk.1	-	c.716G>A	c.(715-717)CGA>CAA	p.R239Q	ARFIP2_uc001mdl.1_Missense_Mutation_p.R239Q|ARFIP2_uc001mdm.1_Non-coding_Transcript	NM_012402	NP_036534	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	239	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)				Melanoma(119;796 1674 9049 20480 24794)								0.202186	74.173692	89.254319	37	146	CC		KEEP	---	---	---	---	capture		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Missense_Mutation	SNP	6455678	6455678	866	11	C	T	T	31	31	ARFIP2	T	1	1
NAALADL1	10004	broad.mit.edu	36	11	64578538	64578538	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64578538C>T	uc001ocn.1	-	c.852G>A	c.(850-852)CAG>CAA	p.Q284Q		NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	284	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0														0.223404	47.420596	54.037538	21	73	CC		KEEP	---	---	---	---	capture			Silent	SNP	64578538	64578538	10524	11	C	T	T	28	28	NAALADL1	T	2	2
CDCA5	113130	broad.mit.edu	36	11	64607540	64607540	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64607540G>T	uc001ocp.2	-	c.200C>A	c.(199-201)GCT>GAT	p.A67D	ZFPL1_uc009yqa.1_5'Flank|ZFPL1_uc001ocq.1_5'Flank	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	67					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding				0														0.424731	213.576926	214.499231	79	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64607540	64607540	3218	11	G	T	T	34	34	CDCA5	T	3	3
TM7SF2	7108	broad.mit.edu	36	11	64637584	64637584	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64637584G>A	uc001ocv.1	+	c.608G>A	c.(607-609)CGT>CAT	p.R203H	TM7SF2_uc001oct.1_Missense_Mutation_p.R182H|TM7SF2_uc001ocu.1_Missense_Mutation_p.R182H	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	182					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1												OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.108963	41.923418	128.150632	62	507	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64637584	64637584	16504	11	G	A	A	40	40	TM7SF2	A	1	1
ZNHIT2	741	broad.mit.edu	36	11	64640832	64640832	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64640832G>A	uc001ocw.1	-	c.870C>T	c.(868-870)GTC>GTT	p.V290V		NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	290							metal ion binding			breast(1)	1														0.432432	128.276316	128.718826	48	63	GG		KEEP	---	---	---	---	capture			Silent	SNP	64640832	64640832	18811	11	G	A	A	37	37	ZNHIT2	A	1	1
FAU	2197	broad.mit.edu	36	11	64644809	64644809	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64644809G>A	uc001ocx.1	-	c.322C>T	c.(322-324)CGG>TGG	p.R108W	FAU_uc001ocy.1_3'UTR|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	ubiquitin-like protein fubi and ribosomal	Error:Variant_position_missing_in_P35544_after_alignment											0														0.19661	109.680334	134.989216	58	237	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64644809	64644809	5930	11	G	A	A	38	38	FAU	A	1	1
SYVN1	84447	broad.mit.edu	36	11	64654849	64654849	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64654849G>A	uc001odb.1	-	c.964C>T	c.(964-966)CGG>TGG	p.R322W	SYVN1_uc001odc.1_Missense_Mutation_p.R322W|SYVN1_uc009yqc.1_Missense_Mutation_p.R271W	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	322	Cytoplasmic (Potential).|RING-type; atypical.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1														0.163636	12.749391	18.657183	9	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64654849	64654849	16008	11	G	A	A	38	38	SYVN1	A	1	1
SPDYC	387778	broad.mit.edu	36	11	64696575	64696575	+	Nonsense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64696575A>T	uc001odd.1	+	c.439A>T	c.(439-441)AAA>TAA	p.K147*		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	147	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding				0														0.429907	230.266368	231.198096	92	122	AA		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	64696575	64696575	15538	11	A	T	T	9	9	SPDYC	T	5	4
SPDYC	387778	broad.mit.edu	36	11	64697246	64697246	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64697246G>A	uc001odd.1	+	c.864G>A	c.(862-864)CCG>CCA	p.P288P		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	288					cell cycle	nucleus	protein kinase binding				0														0.435294	221.831858	222.450561	74	96	GG		KEEP	---	---	---	---	capture			Silent	SNP	64697246	64697246	15538	11	G	A	A	39	39	SPDYC	A	1	1
CAPN1	823	broad.mit.edu	36	11	64710051	64710051	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64710051G>A	uc009yqd.1	+	c.544G>A	c.(544-546)GAA>AAA	p.E182K	CAPN1_uc001odf.1_Missense_Mutation_p.E182K|CAPN1_uc001odg.1_Missense_Mutation_p.E182K	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	182	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)												0.590909	38.376554	38.535059	13	9	GG		KEEP	---	---	---	---	capture		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	Missense_Mutation	SNP	64710051	64710051	2739	11	G	A	A	37	37	CAPN1	A	1	1
CAPN1	823	broad.mit.edu	36	11	64710088	64710088	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64710088C>T	uc009yqd.1	+	c.581C>T	c.(580-582)GCC>GTC	p.A194V	CAPN1_uc001odf.1_Missense_Mutation_p.A194V|CAPN1_uc001odg.1_Missense_Mutation_p.A194V	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	194	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)												0.241379	15.209017	16.979925	7	22	CC		KEEP	---	---	---	---	capture		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	Missense_Mutation	SNP	64710088	64710088	2739	11	C	T	T	26	26	CAPN1	T	2	2
CAPN1	823	broad.mit.edu	36	11	64730537	64730537	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64730537A>C	uc009yqd.1	+	c.1381A>C	c.(1381-1383)AAG>CAG	p.K461Q	CAPN1_uc001odf.1_Missense_Mutation_p.K461Q|CAPN1_uc001odg.1_Missense_Mutation_p.K461Q	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	461	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)												0.407035	252.705695	254.214843	81	118	AA		KEEP	---	---	---	---	capture		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	Missense_Mutation	SNP	64730537	64730537	2739	11	A	C	C	9	9	CAPN1	C	4	4
DNHD1	144132	broad.mit.edu	36	11	6476481	6476481	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6476481C>T	uc001mdp.1	+	c.460C>T	c.(460-462)CGG>TGG	p.R154W		NM_173589	NP_775860	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 2	154					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)												0.325301	464.759422	480.502332	189	392	CC		KEEP	---	---	---	---	capture		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	Missense_Mutation	SNP	6476481	6476481	4851	11	C	T	T	27	27	DNHD1	T	1	1
POLA2	23649	broad.mit.edu	36	11	64818237	64818237	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64818237G>T	uc001odj.1	+	c.1282G>T	c.(1282-1284)GAT>TAT	p.D428Y	POLA2_uc001odk.1_Missense_Mutation_p.D125Y	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2 (70kD	428					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)									0.179931	248.04335	331.800938	156	711	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64818237	64818237	12616	11	G	T	T	33	33	POLA2	T	3	3
POLA2	23649	broad.mit.edu	36	11	64821288	64821288	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64821288G>T	uc001odj.1	+	c.1769G>T	c.(1768-1770)TGC>TTC	p.C590F	POLA2_uc001odk.1_Missense_Mutation_p.C287F	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2 (70kD	590					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)									0.263441	118.286526	127.703517	49	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64821288	64821288	12616	11	G	T	T	46	46	POLA2	T	3	3
CDC42EP2	10435	broad.mit.edu	36	11	64844986	64844986	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64844986G>A	uc001odl.1	+	c.41G>A	c.(40-42)CGC>CAC	p.R14H	CDC42EP2_uc009yqg.1_Missense_Mutation_p.R14H	NM_006779	NP_006770	O14613	BORG1_HUMAN	Cdc42 effector protein 2	14					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity				0														0.476744	114.265897	114.306386	41	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64844986	64844986	3204	11	G	A	A	38	38	CDC42EP2	A	1	1
TIGD3	220359	broad.mit.edu	36	11	64881113	64881113	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64881113G>A	uc001odo.2	+	c.1258G>A	c.(1258-1260)GAC>AAC	p.D420N	TIGD3_uc009yqh.1_Missense_Mutation_p.D420N	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	420						chromosome, centromeric region|nucleus	DNA binding				0														0.449799	311.739577	312.289664	112	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64881113	64881113	16426	11	G	A	A	41	41	TIGD3	A	2	2
FRMD8	83786	broad.mit.edu	36	11	64911166	64911166	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64911166G>A	uc001odu.2	+	c.83G>A	c.(82-84)CGA>CAA	p.R28Q	FRMD8_uc009yqj.1_Missense_Mutation_p.R28Q	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	28						cytoskeleton	binding			lung(1)|pancreas(1)	2														0.528796	277.453755	277.590099	101	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64911166	64911166	6306	11	G	A	A	37	37	FRMD8	A	1	1
SCYL1	57410	broad.mit.edu	36	11	65049762	65049762	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65049762G>A	uc001oea.1	+	c.252_splice	c.e2+1	p.E84_splice	SCYL1_uc009yqk.1_Splice_Site_SNP_p.E84_splice|SCYL1_uc001oeb.1_Splice_Site_SNP_p.E84_splice|SCYL1_uc001oec.1_Splice_Site_SNP_p.E84_splice|SCYL1_uc001oed.1_Splice_Site_SNP	NM_020680	NP_065731			SCY1-like 1 isoform A						protein phosphorylation|regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1										387				0.186667	26.124929	33.010588	14	61	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	65049762	65049762	14432	11	G	A	A	44	44	SCYL1	A	5	2
SCYL1	57410	broad.mit.edu	36	11	65050271	65050271	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65050271G>A	uc001oea.1	+	c.476G>A	c.(475-477)GGC>GAC	p.G159D	SCYL1_uc009yqk.1_Missense_Mutation_p.G159D|SCYL1_uc001oeb.1_Missense_Mutation_p.G159D|SCYL1_uc001oec.1_Missense_Mutation_p.G159D|SCYL1_uc001oed.1_Missense_Mutation_p.G16D	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	159	Protein kinase.				protein phosphorylation|regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1										387				0.255556	45.379007	50.272342	23	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65050271	65050271	14432	11	G	A	A	42	42	SCYL1	A	2	2
SCYL1	57410	broad.mit.edu	36	11	65062555	65062555	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65062555G>A	uc001oea.1	+	c.2369G>A	c.(2368-2370)CGC>CAC	p.R790H	SCYL1_uc009yqk.1_3'UTR|SCYL1_uc001oeb.1_Missense_Mutation_p.R773H|SCYL1_uc001oec.1_Missense_Mutation_p.A778T|SCYL1_uc001oed.1_Missense_Mutation_p.R647H|SCYL1_uc001oee.1_Missense_Mutation_p.A416T	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	790	Potential.				protein phosphorylation|regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1										387				0.4	20.30034	20.473573	8	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65062555	65062555	14432	11	G	A	A	38	38	SCYL1	A	1	1
FAM89B	23625	broad.mit.edu	36	11	65097624	65097624	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65097624C>T	uc001oel.2	+	c.506C>T	c.(505-507)ACT>ATT	p.T169I	FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oem.2_Missense_Mutation_p.T156I|EHBP1L1_uc009yqm.1_5'Flank|EHBP1L1_uc001oeo.2_5'Flank	NM_001098785	NP_001092255	Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	156											0														0.376	125.27101	126.965694	47	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65097624	65097624	5874	11	C	T	T	20	20	FAM89B	T	2	2
KCNK7	10089	broad.mit.edu	36	11	65117087	65117087	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65117087C>T	uc001oes.1	-	c.889G>A	c.(889-891)GCG>ACG	p.A297T	KCNK7_uc001oeq.1_3'UTR|KCNK7_uc001oer.1_3'UTR|KCNK7_uc001oeu.1_3'UTR	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	297	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0														0.152174	9.00501	14.330873	7	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65117087	65117087	8376	11	C	T	T	27	27	KCNK7	T	1	1
PCNXL3	399909	broad.mit.edu	36	11	65159090	65159090	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65159090G>A	uc001oey.2	+	c.4876G>A	c.(4876-4878)GAG>AAG	p.E1626K	PCNXL3_uc001oez.2_Missense_Mutation_p.E513K	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1626						integral to membrane					0														0.238806	33.5631	37.74245	16	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65159090	65159090	12013	11	G	A	A	37	37	PCNXL3	A	1	1
SIPA1	6494	broad.mit.edu	36	11	65165309	65165309	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65165309G>A	uc001ofb.1	+	c.341G>A	c.(340-342)CGA>CAA	p.R114Q	SIPA1_uc009yqo.1_Missense_Mutation_p.R114Q|SIPA1_uc009yqp.1_Missense_Mutation_p.R114Q|SIPA1_uc001ofd.1_Missense_Mutation_p.R114Q|SIPA1_uc009yqq.1_Missense_Mutation_p.R114Q	NM_153253	NP_694985	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	114					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|nucleus|perinuclear region of cytoplasm	Rap GTPase activator activity				0														0.438127	367.774004	368.772134	131	168	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65165309	65165309	14823	11	G	A	A	37	37	SIPA1	A	1	1
RELA	5970	broad.mit.edu	36	11	65179936	65179936	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65179936G>T	uc001ofg.1	-	c.924C>A	c.(922-924)ACC>ACA	p.T308T	RELA_uc001ofe.1_Silent_p.T308T|RELA_uc001off.1_Silent_p.T308T|RELA_uc001ofh.1_Silent_p.T305T|RELA_uc009yqr.1_Silent_p.T255T|RELA_uc009yqs.1_Non-coding_Transcript	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	308					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of gene-specific transcription|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|promoter binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription activator activity|transcription repressor activity|ubiquitin protein ligase binding			ovary(1)|lung(1)	2										146				0.468354	308.15173	308.36122	111	126	GG		KEEP	---	---	---	---	capture			Silent	SNP	65179936	65179936	13685	11	G	T	T	35	35	RELA	T	3	3
RELA	5970	broad.mit.edu	36	11	65182407	65182407	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65182407G>T	uc001ofg.1	-	c.804C>A	c.(802-804)GTC>GTA	p.V268V	RELA_uc001ofe.1_Silent_p.V268V|RELA_uc001off.1_Silent_p.V268V|RELA_uc001ofh.1_Silent_p.V265V|RELA_uc009yqr.1_Silent_p.V215V|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	268	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of gene-specific transcription|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|promoter binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription activator activity|transcription repressor activity|ubiquitin protein ligase binding			ovary(1)|lung(1)	2										146				0.171429	8.621578	12.204972	6	29	GG		KEEP	---	---	---	---	capture			Silent	SNP	65182407	65182407	13685	11	G	T	T	33	33	RELA	T	3	3
KAT5	10524	broad.mit.edu	36	11	65237685	65237685	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65237685G>A	uc001ofk.1	+	c.586G>A	c.(586-588)GAG>AAG	p.E196K	KAT5_uc001ofi.1_Missense_Mutation_p.E163K|KAT5_uc001ofj.1_Missense_Mutation_p.E111K|KAT5_uc001ofl.1_5'UTR	NM_182710	NP_874369	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 1	163					androgen receptor signaling pathway|chromatin assembly or disassembly|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of interleukin-2 production|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	chromatin|NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|chromatin binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity|transcription repressor activity				0														0.41573	196.691798	197.800617	74	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65237685	65237685	8287	11	G	A	A	37	37	KAT5	A	1	1
RNASEH2C	84153	broad.mit.edu	36	11	65244763	65244763	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65244763G>A	uc001ofn.1	-	c.43C>T	c.(43-45)CAC>TAC	p.H15Y	RNASEH2C_uc001ofm.1_5'Flank	NM_032193	NP_115569	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	15					RNA catabolic process	nucleus|ribonuclease H2 complex					0														0.291667	18.615125	19.5483	7	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65244763	65244763	13891	11	G	A	A	47	47	RNASEH2C	A	2	2
DKFZp761E198	91056	broad.mit.edu	36	11	65303387	65303387	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65303387C>A	uc001ofo.2	-	c.982G>T	c.(982-984)GGT>TGT	p.G328C		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	328	Leu-rich.						protein binding				0														0.552632	59.272586	59.36352	21	17	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(159;0.167)	Missense_Mutation	SNP	65303387	65303387	4723	11	C	A	A	24	24	DKFZp761E198	A	3	3
OVOL1	5017	broad.mit.edu	36	11	65318223	65318223	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65318223G>A	uc001ofp.1	+	c.246G>A	c.(244-246)CTG>CTA	p.L82L	OVOL1_uc001ofq.1_Silent_p.L20L	NM_004561	NP_004552	O14753	OVOL1_HUMAN	OVO-like 1 binding protein	82					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.216981	127.48237	151.007795	69	249	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(159;0.17)	Silent	SNP	65318223	65318223	11739	11	G	A	A	46	46	OVOL1	A	2	2
OVOL1	5017	broad.mit.edu	36	11	65319141	65319141	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65319141G>A	uc001ofp.1	+	c.557G>A	c.(556-558)CGC>CAC	p.R186H	OVOL1_uc001ofq.1_Missense_Mutation_p.R124H	NM_004561	NP_004552	O14753	OVOL1_HUMAN	OVO-like 1 binding protein	186	C2H2-type 3.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.413793	97.816128	98.371059	36	51	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(159;0.17)	Missense_Mutation	SNP	65319141	65319141	11739	11	G	A	A	38	38	OVOL1	A	1	1
MUS81	80198	broad.mit.edu	36	11	65388557	65388557	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65388557G>A	uc001ofv.2	+	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	MUS81_uc001ofw.2_Non-coding_Transcript|MUS81_uc001ofx.2_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	358	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0														0.456522	173.604759	173.831797	63	75	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(159;0.166)	Missense_Mutation	SNP	65388557	65388557	10382	11	G	A	A	38	38	MUS81	A	1	1
DNHD1	144132	broad.mit.edu	36	11	6548784	6548784	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6548784C>T	uc001mea.2	+	c.2273C>T	c.(2272-2274)GCT>GTT	p.A758V	DNHD1_uc001mdw.2_Missense_Mutation_p.A2543V|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.1_Missense_Mutation_p.A757V|DNHD1_uc009yfg.1_Missense_Mutation_p.A114V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4489					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)												0.185185	35.182633	45.19218	20	88	CC		KEEP	---	---	---	---	capture		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	Missense_Mutation	SNP	6548784	6548784	4851	11	C	T	T	28	28	DNHD1	T	2	2
EIF1AD	84285	broad.mit.edu	36	11	65524123	65524123	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65524123C>T	uc001ogm.1	-	c.173G>A	c.(172-174)CGC>CAC	p.R58H	EIF1AD_uc001ogn.1_Missense_Mutation_p.R58H|BANF1_uc001ogo.1_5'Flank|BANF1_uc001ogp.1_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	58	S1-like.					nucleus	translation initiation factor activity				0														0.237037	68.824996	77.363366	32	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65524123	65524123	5180	11	C	T	T	27	27	EIF1AD	T	1	1
BANF1	8815	broad.mit.edu	36	11	65527793	65527793	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65527793C>T	uc001ogo.1	+	c.244C>T	c.(244-246)CGA>TGA	p.R82*	EIF1AD_uc001ogm.1_5'Flank|EIF1AD_uc001ogn.1_5'Flank|BANF1_uc001ogp.1_Nonsense_Mutation_p.R82*	NM_003860	NP_003851	O75531	BAF_HUMAN	barrier to autointegration factor 1	82				R->E: No effect on histone H1/H3 binding.	initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding				0														0.162791	34.497482	48.440202	21	108	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	65527793	65527793	1328	11	C	T	T	31	31	BANF1	T	5	1
CST6	1474	broad.mit.edu	36	11	65537386	65537386	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65537386T>C	uc001ogr.1	+	c.389T>C	c.(388-390)GTC>GCC	p.V130A	CST6_uc001ogs.1_3'UTR	NM_001323	NP_001314	Q15828	CYTM_HUMAN	cystatin M precursor	130					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1														0.253378	210.205787	226.534887	75	221	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65537386	65537386	4117	11	T	C	C	58	58	CST6	C	4	4
CATSPER1	117144	broad.mit.edu	36	11	65544863	65544863	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65544863G>A	uc001ogt.1	-	c.1922C>T	c.(1921-1923)GCC>GTC	p.A641V		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	641	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2														0.285714	64.707286	68.460869	26	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65544863	65544863	2806	11	G	A	A	42	42	CATSPER1	A	2	2
SF3B2	10992	broad.mit.edu	36	11	65585980	65585980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65585980C>T	uc001ogy.1	+	c.1912C>T	c.(1912-1914)CGA>TGA	p.R638*		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	638					interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3														0.318182	51.449169	53.389996	21	45	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	65585980	65585980	14640	11	C	T	T	27	27	SF3B2	T	5	1
PACS1	55690	broad.mit.edu	36	11	65767219	65767219	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65767219C>T	uc001oha.1	+	c.2784C>T	c.(2782-2784)ATC>ATT	p.I928I		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	928					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6														0.22807	27.74527	31.613499	13	44	CC		KEEP	---	---	---	---	capture			Silent	SNP	65767219	65767219	11788	11	C	T	T	31	31	PACS1	T	1	1
RRP8	23378	broad.mit.edu	36	11	6579150	6579150	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6579150C>T	uc001med.1	-	c.722G>A	c.(721-723)CGC>CAC	p.R241H	ILK_uc001mee.1_5'Flank|ILK_uc001mef.1_5'Flank|ILK_uc001meg.1_5'Flank|ILK_uc001meh.1_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	241					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0														0.444444	83.942356	84.125438	32	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6579150	6579150	14170	11	C	T	T	27	27	RRP8	T	1	1
RRP8	23378	broad.mit.edu	36	11	6579345	6579345	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6579345G>A	uc001med.1	-	c.527C>T	c.(526-528)TCC>TTC	p.S176F	ILK_uc001mee.1_5'Flank|ILK_uc001mef.1_5'Flank|ILK_uc001meg.1_5'Flank|ILK_uc001meh.1_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	176					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0														0.18956	134.036754	166.883958	69	295	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6579345	6579345	14170	11	G	A	A	41	41	RRP8	A	2	2
RRP8	23378	broad.mit.edu	36	11	6579996	6579996	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6579996G>A	uc001med.1	-	c.125C>T	c.(124-126)GCC>GTC	p.A42V	ILK_uc001mee.1_5'Flank|ILK_uc001mef.1_5'Flank|ILK_uc001meg.1_5'Flank|ILK_uc001meh.1_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	42					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0														0.453333	283.945969	284.367918	102	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6579996	6579996	14170	11	G	A	A	42	42	RRP8	A	2	2
TMEM151A	256472	broad.mit.edu	36	11	65819628	65819628	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65819628C>T	uc001ohl.1	+	c.1335C>T	c.(1333-1335)GAC>GAT	p.D445D		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	445						integral to membrane				central_nervous_system(1)	1														0.375	30.600516	31.035919	12	20	CC		KEEP	---	---	---	---	capture			Silent	SNP	65819628	65819628	16602	11	C	T	T	19	19	TMEM151A	T	1	1
CD248	57124	broad.mit.edu	36	11	65839360	65839360	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65839360G>A	uc001ohm.1	-	c.1715C>T	c.(1714-1716)GCC>GTC	p.A572V		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	572	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)									0.473282	348.06209	348.225719	124	138	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65839360	65839360	3117	11	G	A	A	42	42	CD248	A	2	2
RIN1	9610	broad.mit.edu	36	11	65860416	65860416	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65860416G>T	uc001ohn.1	-	c.34C>A	c.(34-36)CCT>ACT	p.P12T	RIN1_uc009yrd.1_5'Flank	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	12					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(1)	1														0.192982	16.478231	21.516626	11	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65860416	65860416	13848	11	G	T	T	41	41	RIN1	T	3	3
ILK	3611	broad.mit.edu	36	11	6586701	6586701	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6586701G>T	uc001mee.1	+	c.459G>T	c.(457-459)GAG>GAT	p.E153D	ILK_uc001mef.1_Missense_Mutation_p.E153D|ILK_uc001meg.1_5'UTR|ILK_uc001meh.1_Missense_Mutation_p.E153D|ILK_uc001mei.1_5'Flank	NM_001014794	NP_004508	Q13418	ILK_HUMAN	integrin-linked kinase	153	ANK 5.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity|transcription activator activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)								83				0.183962	66.575895	86.477453	39	173	GG		KEEP	---	---	---	---	capture		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	Missense_Mutation	SNP	6586701	6586701	8014	11	G	T	T	33	33	ILK	T	3	3
B3GNT1	11041	broad.mit.edu	36	11	65871466	65871466	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65871466C>T	uc001ohr.1	-	c.127G>A	c.(127-129)GAC>AAC	p.D43N	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal	43	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity				0														0.285714	14.639292	15.506014	6	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65871466	65871466	1277	11	C	T	T	32	32	B3GNT1	T	2	2
SLC29A2	3177	broad.mit.edu	36	11	65888354	65888354	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65888354C>T	uc001oht.1	-	c.1177G>A	c.(1177-1179)GAT>AAT	p.D393N	SLC29A2_uc001ohs.1_Missense_Mutation_p.D273N|SLC29A2_uc009yrf.1_Missense_Mutation_p.D273N|SLC29A2_uc001ohu.1_Missense_Mutation_p.D393N|SLC29A2_uc001ohv.1_Missense_Mutation_p.G348E	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	393	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1												OREG0021103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.220588	31.891269	36.778179	15	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65888354	65888354	15032	11	C	T	T	30	30	SLC29A2	T	2	2
TPP1	1200	broad.mit.edu	36	11	6593094	6593094	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6593094G>A	uc001mel.1	-	c.1309C>T	c.(1309-1311)CCA>TCA	p.P437S	TPP1_uc001mek.1_Missense_Mutation_p.P194S	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	437					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)												0.232558	64.889843	73.336736	30	99	GG		KEEP	---	---	---	---	capture		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Missense_Mutation	SNP	6593094	6593094	16955	11	G	A	A	42	42	TPP1	A	2	2
NPAS4	266743	broad.mit.edu	36	11	65946531	65946531	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65946531G>A	uc001ohx.1	+	c.361G>A	c.(361-363)GAC>AAC	p.D121N		NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	121	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.16791	76.427804	104.425381	45	223	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65946531	65946531	10969	11	G	A	A	37	37	NPAS4	A	1	1
NPAS4	266743	broad.mit.edu	36	11	65949209	65949209	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65949209G>A	uc001ohx.1	+	c.2272G>A	c.(2272-2274)GCC>ACC	p.A758T		NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	758					transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.227679	108.605232	123.862411	51	173	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65949209	65949209	10969	11	G	A	A	42	42	NPAS4	A	2	2
MRPL11	65003	broad.mit.edu	36	11	65961205	65961205	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65961205A>G	uc001ohz.2	-	c.419T>C	c.(418-420)GTT>GCT	p.V140A	MRPL11_uc001ohy.2_Missense_Mutation_p.V140A|MRPL11_uc001oia.2_Missense_Mutation_p.V114A	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11 isoform a	140					translation		structural constituent of ribosome				0														0.478788	266.924818	266.988772	79	86	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65961205	65961205	10169	11	A	G	G	2	2	MRPL11	G	4	4
TPP1	1200	broad.mit.edu	36	11	6596710	6596710	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6596710G>T	uc001mel.1	-	c.102C>A	c.(100-102)GGC>GGA	p.G34G	TPP1_uc001mek.1_De_novo_Start_OutOfFrame	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	34					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)												0.458333	176.604387	176.824848	66	78	GG		KEEP	---	---	---	---	capture		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Silent	SNP	6596710	6596710	16955	11	G	T	T	34	34	TPP1	T	3	3
PELI3	246330	broad.mit.edu	36	11	65999714	65999714	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65999714C>T	uc001oic.2	+	c.910C>T	c.(910-912)CGC>TGC	p.R304C	PELI3_uc001oid.2_Missense_Mutation_p.R280C|PELI3_uc001oie.2_Missense_Mutation_p.R155C	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	304						cytosol	protein binding			ovary(1)	1														0.428571	154.307917	154.885656	57	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65999714	65999714	12144	11	C	T	T	27	27	PELI3	T	1	1
DCHS1	8642	broad.mit.edu	36	11	6601968	6601968	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6601968C>A	uc001mem.1	-	c.7515G>T	c.(7513-7515)GAG>GAT	p.E2505D		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2505	Cadherin 24.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)												0.294118	34.401976	36.338852	15	36	CC		KEEP	---	---	---	---	capture		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	6601968	6601968	4458	11	C	A	A	24	24	DCHS1	A	3	3
DCHS1	8642	broad.mit.edu	36	11	6602117	6602117	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6602117C>T	uc001mem.1	-	c.7366G>A	c.(7366-7368)GAC>AAC	p.D2456N		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2456	Cadherin 23.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)												0.368421	19.019439	19.308768	7	12	CC		KEEP	---	---	---	---	capture		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	6602117	6602117	4458	11	C	T	T	32	32	DCHS1	T	2	2
DPP3	10072	broad.mit.edu	36	11	66033156	66033156	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66033156C>T	uc001oig.1	+	c.2072C>T	c.(2071-2073)GCG>GTG	p.A691V	DPP3_uc001oif.1_Missense_Mutation_p.A691V|DPP3_uc001oih.1_Missense_Mutation_p.R59C|BBS1_uc001oii.1_5'UTR|BBS1_uc001oij.1_5'Flank|BBS1_uc001oik.1_5'Flank|BBS1_uc001oil.1_5'Flank	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	691					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)	1														0.418803	255.466431	256.820265	98	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66033156	66033156	4912	11	C	T	T	27	27	DPP3	T	1	1
BBS1	582	broad.mit.edu	36	11	66039591	66039591	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66039591G>A	uc001oii.1	+	c.548G>A	c.(547-549)CGA>CAA	p.R183Q	BBS1_uc001oij.1_Missense_Mutation_p.R146Q|BBS1_uc001oik.1_Missense_Mutation_p.R70Q|BBS1_uc001oil.1_Missense_Mutation_p.R146Q	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	146					photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						GBM(152;173 2612 9770 10137)								0.1875	60.972847	77.07133	33	143	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66039591	66039591	1356	11	G	A	A	37	37	BBS1	A	1	1
DCHS1	8642	broad.mit.edu	36	11	6604459	6604459	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6604459G>T	uc001mem.1	-	c.6264C>A	c.(6262-6264)GTC>GTA	p.V2088V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2088	Cadherin 20.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)												0.202429	91.986054	112.332761	50	197	GG		KEEP	---	---	---	---	capture		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	6604459	6604459	4458	11	G	T	T	33	33	DCHS1	T	3	3
CCDC87	55231	broad.mit.edu	36	11	66114926	66114926	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66114926G>A	uc001oiq.2	-	c.2137C>T	c.(2137-2139)CAG>TAG	p.Q713*	CCS_uc001oir.1_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	713										ovary(1)	1														0.450617	379.153456	379.847722	146	178	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	66114926	66114926	2987	11	G	A	A	46	46	CCDC87	A	5	2
CCDC87	55231	broad.mit.edu	36	11	66115208	66115208	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66115208C>A	uc001oiq.2	-	c.1855G>T	c.(1855-1857)GAG>TAG	p.E619*	CCS_uc001oir.1_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	619										ovary(1)	1														0.206226	98.210164	118.800251	53	204	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	66115208	66115208	2987	11	C	A	A	32	32	CCDC87	A	5	3
RBM14	10432	broad.mit.edu	36	11	66149685	66149685	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66149685T>C	uc001oit.1	+	c.1762T>C	c.(1762-1764)TAC>CAC	p.Y588H	RBM14_uc009yrh.1_Intron|RBM14_uc009yri.1_Intron|RBM4_uc009yrj.1_Intron|RBM4_uc009yrk.1_Intron|RBM14_uc001oiu.2_5'Flank	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	588					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription, DNA-dependent	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription mediator activity			ovary(2)|central_nervous_system(1)	3														0.105263	9.351764	21.119575	8	68	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66149685	66149685	13576	11	T	C	C	53	53	RBM14	C	4	4
RBM4B	83759	broad.mit.edu	36	11	66193071	66193071	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66193071C>T	uc001oja.1	-	c.680G>A	c.(679-681)CGC>CAC	p.R227H	RBM4B_uc001ojb.1_Missense_Mutation_p.R227H	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	227	Interaction with TNPO3 (By similarity).				mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0														0.192982	39.379074	49.420712	22	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66193071	66193071	13604	11	C	T	T	27	27	RBM4B	T	1	1
SPTBN2	6712	broad.mit.edu	36	11	66215452	66215452	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66215452G>A	uc001ojd.1	-	c.5444C>T	c.(5443-5445)GCG>GTG	p.A1815V		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1815	Spectrin 15.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4														0.294643	73.949366	78.166422	33	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66215452	66215452	15634	11	G	A	A	38	38	SPTBN2	A	1	1
SPTBN2	6712	broad.mit.edu	36	11	66217340	66217340	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66217340G>A	uc001ojd.1	-	c.4747C>T	c.(4747-4749)CGA>TGA	p.R1583*		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1583	Spectrin 12.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4														0.404372	192.598115	194.064304	74	109	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	66217340	66217340	15634	11	G	A	A	38	38	SPTBN2	A	5	1
SPTBN2	6712	broad.mit.edu	36	11	66217455	66217455	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66217455G>A	uc001ojd.1	-	c.4632C>T	c.(4630-4632)ATC>ATT	p.I1544I		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1544	Spectrin 12.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4														0.274194	39.649317	42.496986	17	45	GG		KEEP	---	---	---	---	capture			Silent	SNP	66217455	66217455	15634	11	G	A	A	37	37	SPTBN2	A	1	1
SPTBN2	6712	broad.mit.edu	36	11	66220512	66220512	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66220512G>A	uc001ojd.1	-	c.4090C>T	c.(4090-4092)CGC>TGC	p.R1364C		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1364	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4														0.455526	448.893682	449.535463	169	202	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66220512	66220512	15634	11	G	A	A	38	38	SPTBN2	A	1	1
C11orf80	79703	broad.mit.edu	36	11	66312228	66312228	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66312228G>A	uc001ojf.2	+	c.545G>A	c.(544-546)GGA>GAA	p.G182E	C11orf80_uc001ojg.2_5'UTR|C11orf80_uc001ojh.2_Intron|C11orf80_uc001oji.2_5'UTR	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	27											0														0.395683	158.292259	159.617008	55	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66312228	66312228	1703	11	G	A	A	41	41	C11orf80	A	2	2
PC	5091	broad.mit.edu	36	11	66373147	66373147	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66373147G>A	uc001ojn.1	-	c.3336C>T	c.(3334-3336)ATC>ATT	p.I1112I	PC_uc001ojo.1_Silent_p.I1112I|PC_uc001ojp.1_Silent_p.I1112I|PC_uc001ojm.1_Silent_p.I101I	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	1112	Biotinyl-binding.				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)			Biotin(DB00121)|Pyruvic acid(DB00119)									0.447005	257.501059	258.037254	97	120	GG		KEEP	---	---	---	---	capture		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Silent	SNP	66373147	66373147	11917	11	G	A	A	37	37	PC	A	1	1
PC	5091	broad.mit.edu	36	11	66376595	66376595	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66376595G>A	uc001ojn.1	-	c.1716C>T	c.(1714-1716)GAC>GAT	p.D572D	PC_uc001ojo.1_Silent_p.D572D|PC_uc001ojp.1_Silent_p.D572D|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	572	Carboxyltransferase.|Substrate binding.	Manganese.			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)			Biotin(DB00121)|Pyruvic acid(DB00119)									0.216374	69.728835	82.39507	37	134	GG		KEEP	---	---	---	---	capture		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Silent	SNP	66376595	66376595	11917	11	G	A	A	40	40	PC	A	1	1
SYT12	91683	broad.mit.edu	36	11	66558868	66558868	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66558868G>A	uc009yrl.1	+	c.211G>A	c.(211-213)GCA>ACA	p.A71T	SYT12_uc001oju.1_Missense_Mutation_p.A71T	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	71	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						Ovarian(65;2862 3307)								0.183007	48.120747	62.551581	28	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66558868	66558868	15989	11	G	A	A	38	38	SYT12	A	1	1
SYT12	91683	broad.mit.edu	36	11	66572758	66572758	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66572758C>T	uc009yrl.1	+	c.1220C>T	c.(1219-1221)ACG>ATG	p.T407M	SYT12_uc001oju.1_Missense_Mutation_p.T407M	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	407	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						Ovarian(65;2862 3307)								0.439024	146.624465	147.023583	54	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66572758	66572758	15989	11	C	T	T	19	19	SYT12	T	1	1
RHOD	29984	broad.mit.edu	36	11	66590786	66590786	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66590786G>A	uc001ojv.1	+	c.222G>A	c.(220-222)GGG>GGA	p.G74G		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D	74	GTP (By similarity).				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0														0.414634	389.206164	391.274144	136	192	GG		KEEP	---	---	---	---	capture			Silent	SNP	66590786	66590786	13812	11	G	A	A	42	42	RHOD	A	2	2
RHOD	29984	broad.mit.edu	36	11	66595493	66595493	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66595493G>T	uc001ojv.1	+	c.477G>T	c.(475-477)ATG>ATT	p.M159I		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D	159					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0														0.16	10.961574	16.477166	8	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66595493	66595493	13812	11	G	T	T	47	47	RHOD	T	3	3
ADRBK1	156	broad.mit.edu	36	11	66801318	66801318	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66801318G>A	uc009yrn.1	+	c.114_splice	c.e2-1	p.S38_splice	ADRBK1_uc009yrm.1_Splice_Site_SNP_p.S38_splice	NM_001619	NP_001610			beta-adrenergic receptor kinase 1						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					Adenosine triphosphate(DB00171)					329				0.43956	119.883885	120.174043	40	51	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Splice_Site_SNP	SNP	66801318	66801318	344	11	G	A	A	34	34	ADRBK1	A	5	2
ADRBK1	156	broad.mit.edu	36	11	66805935	66805935	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66805935C>T	uc009yrn.1	+	c.893C>T	c.(892-894)GCG>GTG	p.A298V	ADRBK1_uc009yrm.1_Missense_Mutation_p.A298V	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	298	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1					Adenosine triphosphate(DB00171)					329				0.223404	85.158814	98.382403	42	146	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Missense_Mutation	SNP	66805935	66805935	344	11	C	T	T	27	27	ADRBK1	T	1	1
ADRBK1	156	broad.mit.edu	36	11	66808344	66808344	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66808344C>T	uc009yrn.1	+	c.1578C>T	c.(1576-1578)TTC>TTT	p.F526F	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	526					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					Adenosine triphosphate(DB00171)					329				0.217143	76.459097	89.374819	38	137	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Silent	SNP	66808344	66808344	344	11	C	T	T	31	31	ADRBK1	T	1	1
SSH3	54961	broad.mit.edu	36	11	66834115	66834115	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66834115G>A	uc001okj.1	+	c.1412G>A	c.(1411-1413)CGC>CAC	p.R471H	SSH3_uc001okk.1_Intron|SSH3_uc001okl.1_Missense_Mutation_p.R325H	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	471					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1														0.142857	23.300789	40.537743	20	120	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Missense_Mutation	SNP	66834115	66834115	15702	11	G	A	A	38	38	SSH3	A	1	1
SSH3	54961	broad.mit.edu	36	11	66835640	66835640	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66835640C>A	uc001okj.1	+	c.1686C>A	c.(1684-1686)GTC>GTA	p.V562V	SSH3_uc001okk.1_Non-coding_Transcript|SSH3_uc001okl.1_Silent_p.V416V	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	562					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1														0.189055	64.536616	82.725826	38	163	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Silent	SNP	66835640	66835640	15702	11	C	A	A	32	32	SSH3	A	3	3
CLCF1	23529	broad.mit.edu	36	11	66889413	66889413	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66889413C>T	uc001okq.1	-	c.448G>A	c.(448-450)GTC>ATC	p.V150I		NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	150					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity				0														0.444444	65.799645	65.943172	24	30	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;2.39e-06)		Missense_Mutation	SNP	66889413	66889413	3597	11	C	T	T	19	19	CLCF1	T	1	1
RAD9A	5883	broad.mit.edu	36	11	66917561	66917561	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66917561C>T	uc001okr.1	+	c.253C>T	c.(253-255)CGC>TGC	p.R85C	RAD9A_uc001oks.1_5'Flank	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	85	Possesses 3'-5' exonuclease activity.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0														0.381443	109.750614	110.946837	37	60	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		Missense_Mutation	SNP	66917561	66917561	13455	11	C	T	T	23	23	RAD9A	T	1	1
TBC1D10C	374403	broad.mit.edu	36	11	66933734	66933734	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66933734G>C	uc001ola.1	+	c.1274G>C	c.(1273-1275)GGC>GCC	p.G425A	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.1_3'UTR|TBC1D10C_uc001olb.1_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	425	Interaction with calcineurin.					intracellular	Rab GTPase activator activity				0														0.3125	45.399375	47.398546	20	44	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Missense_Mutation	SNP	66933734	66933734	16122	11	G	C	C	42	42	TBC1D10C	C	3	3
CARNS1	57571	broad.mit.edu	36	11	66947787	66947787	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66947787C>T	uc001olc.2	+	c.2040C>T	c.(2038-2040)GCC>GCT	p.A680A	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc009yrp.1_Silent_p.A541A	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	541	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0														0.285714	8.692901	9.270846	4	10	CC		KEEP	---	---	---	---	capture			Silent	SNP	66947787	66947787	2775	11	C	T	T	23	23	CARNS1	T	1	1
GPR152	390212	broad.mit.edu	36	11	66976498	66976498	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66976498G>A	uc001olm.1	-	c.274C>T	c.(274-276)CGG>TGG	p.R92W	CABP4_uc001oln.1_5'UTR	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	92	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0						Pancreas(102;800 1581 2723 7382 33622)								0.181818	10.324655	13.473284	6	27	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		Missense_Mutation	SNP	66976498	66976498	6933	11	G	A	A	39	39	GPR152	A	1	1
CABP4	57010	broad.mit.edu	36	11	66980450	66980450	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66980450A>G	uc001olo.1	+	c.502A>G	c.(502-504)ATG>GTG	p.M168V	CABP4_uc001oln.1_Missense_Mutation_p.M63V	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	168	EF-hand 2.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0														0.201493	63.662121	74.748581	27	107	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		Missense_Mutation	SNP	66980450	66980450	2649	11	A	G	G	12	12	CABP4	G	4	4
TMEM134	80194	broad.mit.edu	36	11	66991608	66991608	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66991608G>A	uc001olq.1	-	c.269C>T	c.(268-270)TCC>TTC	p.S90F	TMEM134_uc001olp.1_Missense_Mutation_p.S81F|TMEM134_uc001olr.1_Missense_Mutation_p.S90F|TMEM134_uc001ols.1_Non-coding_Transcript|TMEM134_uc001olt.1_Non-coding_Transcript|TMEM134_uc009yrx.1_Missense_Mutation_p.S90F|TMEM134_uc001olu.2_Missense_Mutation_p.P94S	NM_025124	NP_079400	Q9H6X4	TM134_HUMAN	transmembrane protein 134 isoform a	90	Cytoplasmic (Potential).					integral to membrane					0														0.227273	74.543866	85.060086	35	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66991608	66991608	16582	11	G	A	A	41	41	TMEM134	A	2	2
PITPNM1	9600	broad.mit.edu	36	11	67019129	67019129	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67019129G>A	uc001olx.1	-	c.2626C>T	c.(2626-2628)CGC>TGC	p.R876C	PITPNM1_uc001olw.1_Missense_Mutation_p.R158C|PITPNM1_uc001oly.1_Missense_Mutation_p.R876C|PITPNM1_uc001olz.1_Missense_Mutation_p.R875C	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	876	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GBM(28;144 709 4607 5525)								0.259615	60.774767	66.220025	27	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67019129	67019129	12374	11	G	A	A	38	38	PITPNM1	A	1	1
PITPNM1	9600	broad.mit.edu	36	11	67020298	67020298	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67020298G>A	uc001olx.1	-	c.2244C>T	c.(2242-2244)TTC>TTT	p.F748F	PITPNM1_uc001olw.1_Silent_p.F30F|PITPNM1_uc001oly.1_Silent_p.F748F|PITPNM1_uc001olz.1_Silent_p.F747F	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	748	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GBM(28;144 709 4607 5525)								0.510949	203.855794	203.870485	70	67	GG		KEEP	---	---	---	---	capture			Silent	SNP	67020298	67020298	12374	11	G	A	A	41	41	PITPNM1	A	2	2
NDUFV1	4723	broad.mit.edu	36	11	67132663	67132663	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67132663G>A	uc001omj.2	+	c.220G>A	c.(220-222)GAC>AAC	p.D74N	NDUFV1_uc001omk.2_Missense_Mutation_p.D65N|NDUFV1_uc001oml.2_Missense_Mutation_p.D67N|NDUFV1_uc009yrz.1_5'UTR	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1,	74					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)									0.475219	456.485262	456.668823	163	180	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67132663	67132663	10698	11	G	A	A	37	37	NDUFV1	A	1	1
NDUFV1	4723	broad.mit.edu	36	11	67135982	67135982	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67135982C>A	uc001omj.2	+	c.1119C>A	c.(1117-1119)TTC>TTA	p.F373L	NDUFV1_uc001omk.2_Missense_Mutation_p.F364L|NDUFV1_uc001oml.2_Missense_Mutation_p.F366L|NDUFV1_uc009yrz.1_3'UTR	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1,	373					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)									0.217391	68.730129	80.597065	35	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67135982	67135982	10698	11	C	A	A	32	32	NDUFV1	A	3	3
TBX10	347853	broad.mit.edu	36	11	67155922	67155922	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67155922A>G	uc001omp.1	-	c.888T>C	c.(886-888)GCT>GCC	p.A296A	NUDT8_uc001omn.1_5'Flank|NUDT8_uc001omo.1_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	296					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.333333	9.622433	9.843622	3	6	AA		KEEP	---	---	---	---	capture			Silent	SNP	67155922	67155922	16177	11	A	G	G	3	3	TBX10	G	4	4
TBX10	347853	broad.mit.edu	36	11	67157100	67157100	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67157100G>A	uc001omp.1	-	c.600C>T	c.(598-600)TTC>TTT	p.F200F		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	200	T-box.			FV -> LL (in Ref. 3; AAC23481).	anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.216162	227.057486	263.855281	107	388	GG		KEEP	---	---	---	---	capture			Silent	SNP	67157100	67157100	16177	11	G	A	A	37	37	TBX10	A	1	1
OR2AG2	338755	broad.mit.edu	36	11	6746455	6746455	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6746455C>T	uc001meq.1	-	c.310G>A	c.(310-312)GCA>ACA	p.A104T		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)												0.161972	36.740147	52.174016	23	119	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	Missense_Mutation	SNP	6746455	6746455	11391	11	C	T	T	26	26	OR2AG2	T	2	2
ALDH3B1	221	broad.mit.edu	36	11	67543823	67543823	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67543823G>A	uc001omz.1	+	c.544G>A	c.(544-546)GAC>AAC	p.D182N	ALDH3B1_uc001omx.1_Non-coding_Transcript|ALDH3B1_uc001ona.1_Missense_Mutation_p.D145N|ALDH3B1_uc001onb.1_Non-coding_Transcript	NM_000694	NP_000685	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	182					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process|oxidation-reduction process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)									0.216049	73.040964	85.09217	35	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67543823	67543823	502	11	G	A	A	37	37	ALDH3B1	A	1	1
TCIRG1	10312	broad.mit.edu	36	11	67571559	67571559	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67571559G>A	uc001one.1	+	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T	TCIRG1_uc001ong.1_Missense_Mutation_p.A201T|TCIRG1_uc001onh.1_Missense_Mutation_p.A119T|TCIRG1_uc001oni.1_5'UTR|TCIRG1_uc009ysd.1_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	417	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														0.395604	91.109802	91.966566	36	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67571559	67571559	16229	11	G	A	A	38	38	TCIRG1	A	1	1
TCIRG1	10312	broad.mit.edu	36	11	67573146	67573146	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67573146C>T	uc001one.1	+	c.1696C>T	c.(1696-1698)CTG>TTG	p.L566L	TCIRG1_uc001ong.1_Silent_p.L350L|TCIRG1_uc001onh.1_Silent_p.L268L|TCIRG1_uc001oni.1_Silent_p.L70L|TCIRG1_uc009ysd.1_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	566	Cytoplasmic (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														0.450704	362.858477	363.459688	128	156	CC		KEEP	---	---	---	---	capture			Silent	SNP	67573146	67573146	16229	11	C	T	T	28	28	TCIRG1	T	2	2
TCIRG1	10312	broad.mit.edu	36	11	67574635	67574635	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67574635C>T	uc001one.1	+	c.2342C>T	c.(2341-2343)GCC>GTC	p.A781V	TCIRG1_uc001ong.1_Missense_Mutation_p.A565V|TCIRG1_uc001onh.1_Missense_Mutation_p.A483V|TCIRG1_uc001oni.1_Missense_Mutation_p.A285V|TCIRG1_uc009ysd.1_Intron	NM_006019	NP_006044	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	781	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														0.394191	259.513065	261.859117	95	146	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67574635	67574635	16229	11	C	T	T	26	26	TCIRG1	T	2	2
CHKA	1119	broad.mit.edu	36	11	67578084	67578084	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67578084C>T	uc001onj.1	-	c.1321G>A	c.(1321-1323)GCC>ACC	p.A441T	CHKA_uc001onk.1_Missense_Mutation_p.A423T	NM_001277	NP_001268	P35790	CHKA_HUMAN	choline kinase alpha isoform a	441					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)									0.182927	26.375576	34.118475	15	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67578084	67578084	3481	11	C	T	T	27	27	CHKA	T	1	1
OR2AG1	144125	broad.mit.edu	36	11	6763104	6763104	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6763104G>A	uc001mer.1	+	c.260G>A	c.(259-261)CGC>CAC	p.R87H		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)												0.186957	77.742668	98.821283	43	187	GG		KEEP	---	---	---	---	capture		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	Missense_Mutation	SNP	6763104	6763104	11390	11	G	A	A	38	38	OR2AG1	A	1	1
SUV420H1	51111	broad.mit.edu	36	11	67682546	67682546	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67682546G>A	uc001onm.1	-	c.1843C>T	c.(1843-1845)CGA>TGA	p.R615*	SUV420H1_uc009yse.1_Nonsense_Mutation_p.R201*|SUV420H1_uc001onn.1_Nonsense_Mutation_p.R443*|SUV420H1_uc009ysf.1_Nonsense_Mutation_p.R375*	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3														0.151724	31.962752	48.803481	22	123	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	67682546	67682546	15934	11	G	A	A	40	40	SUV420H1	A	5	1
C11orf24	53838	broad.mit.edu	36	11	67786867	67786867	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67786867C>T	uc001onr.2	-	c.172G>A	c.(172-174)GCA>ACA	p.A58T	C11orf24_uc001ons.1_Missense_Mutation_p.A58T	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838	58	Extracellular (Potential).					integral to membrane					0						NSCLC(21;855 905 4198 36694)								0.205263	76.426483	91.735645	39	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67786867	67786867	1673	11	C	T	T	26	26	C11orf24	T	2	2
DEAF1	10522	broad.mit.edu	36	11	677927	677927	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:677927C>A	uc001lqq.1	-	c.648G>T	c.(646-648)AAG>AAT	p.K216N	DEAF1_uc009ycf.1_Non-coding_Transcript	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	216	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)												0.381679	126.425204	128.030235	50	81	CC		KEEP	---	---	---	---	capture		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	Missense_Mutation	SNP	677927	677927	4551	11	C	A	A	32	32	DEAF1	A	3	3
LRP5	4041	broad.mit.edu	36	11	67872145	67872145	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67872145G>A	uc001ont.1	+	c.346G>A	c.(346-348)GAC>AAC	p.D116N	LRP5_uc009ysg.1_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	116	Beta-propeller 1.|LDL-receptor class B 1.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(1)|pancreas(1)	2														0.454829	399.288448	399.860487	146	175	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67872145	67872145	9333	11	G	A	A	37	37	LRP5	A	1	1
MTL5	9633	broad.mit.edu	36	11	68274497	68274497	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:68274497C>T	uc001ooc.1	-	c.208G>A	c.(208-210)GCG>ACG	p.A70T	MTL5_uc001ood.1_Missense_Mutation_p.A70T|MTL5_uc009ysi.1_Missense_Mutation_p.A70T|MTL5_uc001ooe.2_Missense_Mutation_p.A70T	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	70					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)													0.25	12.600578	13.924448	6	18	CC		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		Missense_Mutation	SNP	68274497	68274497	10329	11	C	T	T	27	27	MTL5	T	1	1
CPT1A	1374	broad.mit.edu	36	11	68305999	68305999	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:68305999G>A	uc001oog.2	-	c.1168C>T	c.(1168-1170)CCC>TCC	p.P390S	CPT1A_uc001oof.2_Missense_Mutation_p.P390S|CPT1A_uc009ysj.1_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A isoform 1	390	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity				0	Esophageal squamous(3;3.28e-14)				L-Carnitine(DB00583)|Perhexiline(DB01074)									0.459016	157.583014	157.761496	56	66	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Missense_Mutation	SNP	68305999	68305999	3970	11	G	A	A	41	41	CPT1A	A	2	2
IGHMBP2	3508	broad.mit.edu	36	11	68460602	68460602	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:68460602G>C	uc001ook.1	+	c.2078G>C	c.(2077-2079)GGC>GCC	p.G693A	IGHMBP2_uc001ool.1_Missense_Mutation_p.G317A|IGHMBP2_uc001oom.1_Missense_Mutation_p.G271A	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	693	SS DNA-binding (By similarity).				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0														0.287879	52.819189	55.469721	19	47	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		Missense_Mutation	SNP	68460602	68460602	7892	11	G	C	C	42	42	IGHMBP2	C	3	3
IGHMBP2	3508	broad.mit.edu	36	11	68463705	68463705	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:68463705G>T	uc001ook.1	+	c.2912G>T	c.(2911-2913)AGG>ATG	p.R971M	IGHMBP2_uc001ool.1_Missense_Mutation_p.R595M	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	971					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0														0.196721	22.460976	27.693179	12	49	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		Missense_Mutation	SNP	68463705	68463705	7892	11	G	T	T	35	35	IGHMBP2	T	3	3
OR10A2	341276	broad.mit.edu	36	11	6847831	6847831	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6847831C>A	uc001meu.1	+	c.270C>A	c.(268-270)TTC>TTA	p.F90L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	90	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)												0.188034	117.513689	149.531574	66	285	CC		KEEP	---	---	---	---	capture		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	Missense_Mutation	SNP	6847831	6847831	11296	11	C	A	A	32	32	OR10A2	A	3	3
OR2D3	120775	broad.mit.edu	36	11	6898829	6898829	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6898829C>A	uc001mex.1	+	c.21C>A	c.(19-21)TGC>TGA	p.C7*		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)												0.168919	46.58697	61.944311	25	123	CC		KEEP	---	---	---	---	capture		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	Nonsense_Mutation	SNP	6898829	6898829	11401	11	C	A	A	26	26	OR2D3	A	5	3
OR2D3	120775	broad.mit.edu	36	11	6899089	6899089	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6899089T>C	uc001mex.1	+	c.281T>C	c.(280-282)GTC>GCC	p.V94A		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	94	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)												0.488789	740.610358	740.659267	218	228	TT		KEEP	---	---	---	---	capture		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	Missense_Mutation	SNP	6899089	6899089	11401	11	T	C	C	58	58	OR2D3	C	4	4
ZNF215	7762	broad.mit.edu	36	11	6910331	6910331	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6910331G>T	uc001mey.1	+	c.252G>T	c.(250-252)AAG>AAT	p.K84N	ZNF215_uc001mez.1_Missense_Mutation_p.K84N	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	84	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.253247	83.337718	91.862825	39	115	GG		KEEP	---	---	---	---	capture		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	Missense_Mutation	SNP	6910331	6910331	18362	11	G	T	T	33	33	ZNF215	T	3	3
TMEM80	283232	broad.mit.edu	36	11	693132	693132	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:693132C>T	uc001lqr.1	+	c.489C>T	c.(487-489)ATC>ATT	p.I163I	TMEM80_uc001lqs.1_Silent_p.I155I|EPS8L2_uc001lqt.1_5'Flank	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN	transmembrane protein 80 isoform 2	163	Helical; (Potential).					integral to membrane					0		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)												0.426471	78.562402	78.882996	29	39	CC		KEEP	---	---	---	---	capture		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Silent	SNP	693132	693132	16743	11	C	T	T	31	31	TMEM80	T	1	1
ZNF215	7762	broad.mit.edu	36	11	6933585	6933585	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6933585G>T	uc001mey.1	+	c.801G>T	c.(799-801)TGG>TGT	p.W267C	ZNF215_uc001mez.1_Missense_Mutation_p.W267C	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	267					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.212329	118.0098	140.449041	62	230	GG		KEEP	---	---	---	---	capture		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	Missense_Mutation	SNP	6933585	6933585	18362	11	G	T	T	41	41	ZNF215	T	3	3
ANO1	55107	broad.mit.edu	36	11	69694657	69694657	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:69694657C>T	uc001opj.1	+	c.2214C>T	c.(2212-2214)TTC>TTT	p.F738F	ANO1_uc001opi.1_Silent_p.F712F|ANO1_uc001opl.1_Non-coding_Transcript	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	transmembrane protein 16A	738	Helical; (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2														0.322034	48.095935	49.760013	19	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	69694657	69694657	703	11	C	T	T	31	31	ANO1	T	1	1
ANO1	55107	broad.mit.edu	36	11	69711513	69711513	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:69711513G>A	uc001opj.1	+	c.2716G>A	c.(2716-2718)GAC>AAC	p.D906N	ANO1_uc001opi.1_Missense_Mutation_p.D880N|ANO1_uc001opl.1_Non-coding_Transcript	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	transmembrane protein 16A	906	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2														0.2	6.586699	8.263887	4	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69711513	69711513	703	11	G	A	A	37	37	ANO1	A	1	1
ZNF214	7761	broad.mit.edu	36	11	6978285	6978285	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6978285C>T	uc001mfa.2	-	c.1205G>A	c.(1204-1206)CGA>CAA	p.R402Q	ZNF214_uc009yfh.1_Missense_Mutation_p.R402Q	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	402	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						Ovarian(22;251 657 736 21522 46864)								0.387097	296.726348	299.845608	108	171	CC		KEEP	---	---	---	---	capture		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	Missense_Mutation	SNP	6978285	6978285	18361	11	C	T	T	31	31	ZNF214	T	1	1
PPFIA1	8500	broad.mit.edu	36	11	69854069	69854069	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:69854069G>A	uc001opo.1	+	c.1073G>A	c.(1072-1074)CGA>CAA	p.R358Q	PPFIA1_uc001opn.1_Missense_Mutation_p.R358Q|PPFIA1_uc001opp.1_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	358	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3														0.212903	68.482238	80.297674	33	122	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		Missense_Mutation	SNP	69854069	69854069	12739	11	G	A	A	37	37	PPFIA1	A	1	1
CTTN	2017	broad.mit.edu	36	11	69954969	69954969	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:69954969A>G	uc001opu.2	+	c.1090A>G	c.(1090-1092)ACG>GCG	p.T364A	CTTN_uc001opv.2_Missense_Mutation_p.T401A|CTTN_uc001opw.2_Missense_Mutation_p.T364A|CTTN_uc001opx.1_Missense_Mutation_p.T85A	NM_138565	NP_612632	Q14247	SRC8_HUMAN	cortactin isoform b	401						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1										187				0.142857	75.536477	109.939575	40	240	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	Missense_Mutation	SNP	69954969	69954969	4203	11	A	G	G	2	2	CTTN	G	4	4
SHANK2	22941	broad.mit.edu	36	11	69997026	69997026	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:69997026C>A	uc001opz.1	-	c.3361G>T	c.(3361-3363)GAG>TAG	p.E1121*	SHANK2_uc001opy.1_Nonsense_Mutation_p.E52*	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1337					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.367647	125.706812	127.803466	50	86	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		Nonsense_Mutation	SNP	69997026	69997026	14757	11	C	A	A	32	32	SHANK2	A	5	3
SHANK2	22941	broad.mit.edu	36	11	70009204	70009204	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70009204C>T	uc001opz.1	-	c.3057G>A	c.(3055-3057)CCG>CCA	p.P1019P	SHANK2_uc001opy.1_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1235					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.258065	126.993197	138.509776	56	161	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		Silent	SNP	70009204	70009204	14757	11	C	T	T	31	31	SHANK2	T	1	1
SHANK2	22941	broad.mit.edu	36	11	70010146	70010146	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70010146G>A	uc001opz.1	-	c.2115C>T	c.(2113-2115)ATC>ATT	p.I705I	SHANK2_uc001opy.1_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	921					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.461039	394.970425	395.381073	142	166	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		Silent	SNP	70010146	70010146	14757	11	G	A	A	37	37	SHANK2	A	1	1
SHANK2	22941	broad.mit.edu	36	11	70010286	70010286	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70010286G>A	uc001opz.1	-	c.1975C>T	c.(1975-1977)CGG>TGG	p.R659W	SHANK2_uc001opy.1_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	875					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.239286	141.50827	158.878283	67	213	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		Missense_Mutation	SNP	70010286	70010286	14757	11	G	A	A	38	38	SHANK2	A	1	1
SHANK2	22941	broad.mit.edu	36	11	70011180	70011180	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70011180G>A	uc001opz.1	-	c.1081C>T	c.(1081-1083)CTG>TTG	p.L361L	SHANK2_uc001opy.1_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	577					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.231343	61.989414	70.832775	31	103	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		Silent	SNP	70011180	70011180	14757	11	G	A	A	34	34	SHANK2	A	2	2
NLRP14	338323	broad.mit.edu	36	11	7020781	7020781	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7020781G>A	uc001mfb.1	+	c.948G>A	c.(946-948)AAG>AAA	p.K316K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	316	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7														0.216814	113.342941	130.066811	49	177	GG		KEEP	---	---	---	---	capture		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	Silent	SNP	7020781	7020781	10879	11	G	A	A	34	34	NLRP14	A	2	2
NLRP14	338323	broad.mit.edu	36	11	7020958	7020958	+	Silent	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7020958T>A	uc001mfb.1	+	c.1125T>A	c.(1123-1125)GCT>GCA	p.A375A		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	375	NACHT.		A -> T (associated with spermatogenic failure).		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7														0.46519	408.371423	408.706552	147	169	TT		KEEP	---	---	---	---	capture		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	Silent	SNP	7020958	7020958	10879	11	T	A	A	56	56	NLRP14	A	4	4
NLRP14	338323	broad.mit.edu	36	11	7027496	7027496	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7027496C>T	uc001mfb.1	+	c.2142C>T	c.(2140-2142)TTC>TTT	p.F714F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	714					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7														0.206897	139.670808	165.074306	66	253	CC		KEEP	---	---	---	---	capture		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	Silent	SNP	7027496	7027496	10879	11	C	T	T	30	30	NLRP14	T	2	2
NLRP14	338323	broad.mit.edu	36	11	7049027	7049027	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7049027C>A	uc001mfb.1	+	c.3194C>A	c.(3193-3195)GCT>GAT	p.A1065D		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1065					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7														0.472868	167.537175	167.621506	61	68	CC		KEEP	---	---	---	---	capture		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	Missense_Mutation	SNP	7049027	7049027	10879	11	C	A	A	28	28	NLRP14	A	3	3
DHCR7	1717	broad.mit.edu	36	11	70824107	70824107	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70824107C>T	uc001oqk.1	-	c.1390G>A	c.(1390-1392)GCC>ACC	p.A464T	DHCR7_uc001oql.1_Missense_Mutation_p.A464T	NM_001360	NP_001351	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	464					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)									0.237838	92.010104	103.628847	44	141	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70824107	70824107	4656	11	C	T	T	27	27	DHCR7	T	1	1
KRTAP5-9	3846	broad.mit.edu	36	11	70937360	70937360	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70937360C>A	uc001oqs.1	+	c.9C>A	c.(7-9)TGC>TGA	p.C3*		NM_005553	NP_005544	P26371	KRA59_HUMAN	keratin associated protein 5-9	3					epidermis development	keratin filament					0														0.3975	431.60922	435.294991	159	241	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	70937360	70937360	8890	11	C	A	A	28	28	KRTAP5-9	A	5	3
KRTAP5-10	387273	broad.mit.edu	36	11	70954755	70954755	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70954755C>T	uc001oqt.1	+	c.474C>T	c.(472-474)TGC>TGT	p.C158C		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	158	7 X 4 AA repeats of C-C-X-P.					keratin filament					0														0.488818	412.890993	412.926503	153	160	CC		KEEP	---	---	---	---	capture			Silent	SNP	70954755	70954755	8881	11	C	T	T	26	26	KRTAP5-10	T	2	2
KRTAP5-10	387273	broad.mit.edu	36	11	70954887	70954887	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70954887C>A	uc001oqt.1	+	c.606C>A	c.(604-606)ATC>ATA	p.I202I		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	202						keratin filament					0														0.436567	317.41004	318.354189	117	151	CC		KEEP	---	---	---	---	capture			Silent	SNP	70954887	70954887	8881	11	C	A	A	32	32	KRTAP5-10	A	3	3
EPS8L2	64787	broad.mit.edu	36	11	712150	712150	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:712150C>T	uc001lqt.1	+	c.1044C>T	c.(1042-1044)TTC>TTT	p.F348F	EPS8L2_uc001lqu.1_Silent_p.F348F|EPS8L2_uc001lqv.1_Silent_p.F303F|EPS8L2_uc001lqw.1_5'UTR|EPS8L2_uc001lqx.1_5'UTR|EPS8L2_uc001lqy.1_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	348						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)												0.526316	85.349966	85.384493	30	27	CC		KEEP	---	---	---	---	capture		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Silent	SNP	712150	712150	5389	11	C	T	T	31	31	EPS8L2	T	1	1
NUMA1	4926	broad.mit.edu	36	11	71393407	71393407	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71393407C>T	uc001orl.1	-	c.5933G>A	c.(5932-5934)GGC>GAC	p.G1978D	NUMA1_uc001ork.1_Missense_Mutation_p.G842D|NUMA1_uc001orm.1_Missense_Mutation_p.G1964D|IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.G160D|NUMA1_uc009ysw.1_Missense_Mutation_p.G1545D	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1978					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8										525				0.5	186.131847	186.131847	65	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71393407	71393407	11155	11	C	T	T	26	26	NUMA1	T	2	2
NUMA1	4926	broad.mit.edu	36	11	71397880	71397880	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71397880C>A	uc001orl.1	-	c.4840_splice	c.e19-1	p.M1614_splice	NUMA1_uc001ork.1_Splice_Site_SNP_p.M478_splice|NUMA1_uc001orm.1_Splice_Site_SNP_p.M1600_splice|NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Splice_Site_SNP_p.M1163_splice|NUMA1_uc001orn.2_Splice_Site_SNP_p.M1177_splice	NM_006185	NP_006176			nuclear mitotic apparatus protein 1						G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8										525				0.22807	26.542148	30.412847	13	44	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	71397880	71397880	11155	11	C	A	A	32	32	NUMA1	A	5	3
NUMA1	4926	broad.mit.edu	36	11	71404886	71404886	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71404886C>A	uc001orl.1	-	c.1311G>T	c.(1309-1311)GAG>GAT	p.E437D	NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.E437D|NUMA1_uc001oro.1_Missense_Mutation_p.E437D|NUMA1_uc009ysw.1_5'UTR|NUMA1_uc001orn.2_5'UTR|NUMA1_uc009ysx.1_Missense_Mutation_p.E437D	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	437	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8										525		OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.215859	92.124991	109.066337	49	178	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71404886	71404886	11155	11	C	A	A	32	32	NUMA1	A	3	3
C11orf59	55004	broad.mit.edu	36	11	71487104	71487104	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71487104C>T	uc001ort.1	-	c.272G>A	c.(271-273)CGC>CAC	p.R91H	LRTOMT_uc001ors.2_Intron|C11orf59_uc009ytb.1_Intron|C11orf59_uc001oru.1_Missense_Mutation_p.R16H	NM_017907	NP_060377	Q6IAA8	LTOR1_HUMAN	hypothetical protein LOC55004	91					cell growth|cellular protein localization|cellular response to amino acid stimulus|cholesterol homeostasis|endosome localization|endosome organization|lysosome localization|lysosome organization|positive regulation of MAPKKK cascade|positive regulation of TOR signaling cascade|regulation of cholesterol efflux|regulation of cholesterol esterification|regulation of cholesterol import|regulation of receptor recycling	Golgi apparatus|lysosomal membrane|plasma membrane|Ragulator complex	protein binding				0														0.368421	18.219913	18.509031	7	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71487104	71487104	1691	11	C	T	T	27	27	C11orf59	T	1	1
FOLR3	2352	broad.mit.edu	36	11	71528120	71528120	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71528120C>T	uc001orx.1	+	c.439C>T	c.(439-441)CGC>TGC	p.R147C	FOLR3_uc001ory.1_Missense_Mutation_p.R189C	NM_000804	NP_000795	P41439	FOLR3_HUMAN	folate receptor 3 precursor	145					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)									0.138889	6.352063	10.889284	5	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71528120	71528120	6225	11	C	T	T	31	31	FOLR3	T	1	1
PHOX2A	401	broad.mit.edu	36	11	71629968	71629968	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71629968G>T	uc001osh.2	-	c.231C>A	c.(229-231)TTC>TTA	p.F77L		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	77					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.223684	33.62661	38.970073	17	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71629968	71629968	12282	11	G	T	T	33	33	PHOX2A	T	3	3
CLPB	81570	broad.mit.edu	36	11	71683336	71683336	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71683336C>A	uc001osj.1	-	c.1626G>T	c.(1624-1626)GAG>GAT	p.E542D	CLPB_uc001osi.1_Missense_Mutation_p.E150D|CLPB_uc001osk.1_Missense_Mutation_p.E512D|CLPB_uc009ytg.1_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	542					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1														0.460526	285.426684	285.738382	105	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71683336	71683336	3689	11	C	A	A	32	32	CLPB	A	3	3
CLPB	81570	broad.mit.edu	36	11	71769032	71769032	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71769032C>A	uc001osj.1	-	c.587G>T	c.(586-588)GGA>GTA	p.G196V	CLPB_uc001osk.1_Missense_Mutation_p.G196V|CLPB_uc009ytg.1_Non-coding_Transcript	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	196					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1														0.460177	139.760386	139.918777	52	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71769032	71769032	3689	11	C	A	A	30	30	CLPB	A	3	3
PDE2A	5138	broad.mit.edu	36	11	71973566	71973566	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71973566C>A	uc001osm.1	-	c.1357G>T	c.(1357-1359)GAG>TAG	p.E453*	PDE2A_uc001osn.1_Nonsense_Mutation_p.E197*|PDE2A_uc001oso.1_Nonsense_Mutation_p.E432*	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated isoform 1	453	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)	3					Sildenafil(DB00203)|Sulindac(DB00605)									0.233333	69.632009	79.412308	35	115	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Nonsense_Mutation	SNP	71973566	71973566	12057	11	C	A	A	29	29	PDE2A	A	5	3
PDE2A	5138	broad.mit.edu	36	11	71978460	71978460	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71978460C>T	uc001osm.1	-	c.856G>A	c.(856-858)GAA>AAA	p.E286K	PDE2A_uc001osn.1_Intron|PDE2A_uc001oso.1_Missense_Mutation_p.E265K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated isoform 1	286	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)	3					Sildenafil(DB00203)|Sulindac(DB00605)							OREG0021197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.342857	63.477346	65.005083	24	46	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Missense_Mutation	SNP	71978460	71978460	12057	11	C	T	T	30	30	PDE2A	T	2	2
ATG16L2	89849	broad.mit.edu	36	11	72214885	72214885	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:72214885G>T	uc001otd.1	+	c.1122G>T	c.(1120-1122)CAG>CAT	p.Q374H	ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001ote.1_Missense_Mutation_p.Q268H|ATG16L2_uc001otf.1_Missense_Mutation_p.Q129H|ATG16L2_uc001otg.1_Missense_Mutation_p.Q108H|ATG16L2_uc009ytk.1_Missense_Mutation_p.Q129H	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	374					autophagy|protein transport	cytoplasm	protein binding				0														0.231884	33.961038	38.507823	16	53	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		Missense_Mutation	SNP	72214885	72214885	1111	11	G	T	T	33	33	ATG16L2	T	3	3
FCHSD2	9873	broad.mit.edu	36	11	72230147	72230147	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:72230147C>T	uc009ytl.1	-	c.2056G>A	c.(2056-2058)GAA>AAA	p.E686K	FCHSD2_uc001oth.2_Missense_Mutation_p.E630K|ATG16L2_uc009ytj.1_Intron	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	686							protein binding			ovary(1)	1														0.368421	40.439355	41.017915	14	24	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		Missense_Mutation	SNP	72230147	72230147	6027	11	C	T	T	23	23	FCHSD2	T	1	1
ARHGEF17	9828	broad.mit.edu	36	11	72699223	72699223	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:72699223G>A	uc001otu.1	+	c.1892G>A	c.(1891-1893)CGG>CAG	p.R631Q		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	631					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														0.4	127.994756	128.9504	44	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72699223	72699223	914	11	G	A	A	39	39	ARHGEF17	A	1	1
SYT9	143425	broad.mit.edu	36	11	7291733	7291733	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7291733C>T	uc001mfe.1	+	c.1029C>T	c.(1027-1029)ATC>ATT	p.I343I	SYT9_uc001mfd.2_Non-coding_Transcript|SYT9_uc009yfi.1_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	343	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3														0.227119	147.791542	167.943051	67	228	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	Silent	SNP	7291733	7291733	16002	11	C	T	T	31	31	SYT9	T	1	1
CHCHD8	51287	broad.mit.edu	36	11	73261968	73261968	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:73261968G>A	uc001ouj.1	-	c.104C>T	c.(103-105)GCT>GTT	p.A35V	CHCHD8_uc009ytv.1_Missense_Mutation_p.A35V|CHCHD8_uc009ytw.1_Non-coding_Transcript	NM_016565	NP_057649	Q9NYJ1	CHCH8_HUMAN	coiled-coil-helix-coiled-coil-helix domain	35	CHCH.										0	Breast(11;7.42e-05)													0.251208	124.61061	136.247571	52	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73261968	73261968	3456	11	G	A	A	34	34	CHCHD8	A	2	2
UCP3	7352	broad.mit.edu	36	11	73394940	73394940	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:73394940G>A	uc001our.1	-	c.259C>T	c.(259-261)CGC>TGC	p.R87C	UCP3_uc001ous.1_Missense_Mutation_p.R87C	NM_003356	NP_003347	P55916	UCP3_HUMAN	uncoupling protein 3 isoform UCP3L	87	Solcar 1.|Helical; Name=2; (Potential).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			pancreas(1)	1	Breast(11;2.08e-05)													0.5	87.156584	87.156584	33	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73394940	73394940	17490	11	G	A	A	38	38	UCP3	A	1	1
PPME1	51400	broad.mit.edu	36	11	73619001	73619001	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:73619001A>G	uc001ouw.1	+	c.462A>G	c.(460-462)GGA>GGG	p.G154G	PPME1_uc009yty.1_Silent_p.G24G|PPME1_uc001oux.1_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	154					protein demethylation		protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0	Breast(11;3.29e-05)													0.459375	485.775125	486.235632	147	173	AA		KEEP	---	---	---	---	capture			Silent	SNP	73619001	73619001	12782	11	A	G	G	10	10	PPME1	G	4	4
P4HA3	283208	broad.mit.edu	36	11	73692993	73692993	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:73692993G>A	uc001ouz.1	-	c.313C>T	c.(313-315)CAT>TAT	p.H105Y	P4HA3_uc001ouy.2_Non-coding_Transcript	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	105					oxidation-reduction process	endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity				0	Breast(11;2.31e-05)													0.466151	652.683967	653.202095	241	276	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73692993	73692993	11771	11	G	A	A	48	48	P4HA3	A	2	2
CHRDL2	25884	broad.mit.edu	36	11	74102144	74102144	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74102144T>C	uc001ovh.1	-	c.224A>G	c.(223-225)CAC>CGC	p.H75R	CHRDL2_uc001ovg.1_Intron|CHRDL2_uc001ovi.1_Missense_Mutation_p.H75R|CHRDL2_uc001ovk.1_Missense_Mutation_p.H75R	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	chordin-like 2	75	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)													0.441441	136.558905	136.889973	49	62	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74102144	74102144	3508	11	T	C	C	59	59	CHRDL2	C	4	4
OR2AT4	341152	broad.mit.edu	36	11	74477566	74477566	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74477566C>T	uc001owa.1	-	c.841G>A	c.(841-843)GTG>ATG	p.V281M		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.175373	78.043317	104.701534	47	221	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74477566	74477566	11393	11	C	T	T	17	17	OR2AT4	T	2	2
OR2AT4	341152	broad.mit.edu	36	11	74478390	74478390	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74478390C>T	uc001owa.1	-	c.17G>A	c.(16-18)TGT>TAT	p.C6Y		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.43038	177.643053	178.316211	68	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74478390	74478390	11393	11	C	T	T	17	17	OR2AT4	T	2	2
SLCO2B1	11309	broad.mit.edu	36	11	74558437	74558437	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74558437A>G	uc001owb.1	+	c.761A>G	c.(760-762)GAC>GGC	p.D254G	SLCO2B1_uc001owc.1_Intron|SLCO2B1_uc001owd.1_Missense_Mutation_p.D232G	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	254	Helical; Name=5; (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)									0.353612	280.403964	285.412761	93	170	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74558437	74558437	15224	11	A	G	G	10	10	SLCO2B1	G	4	4
ARRB1	408	broad.mit.edu	36	11	74657648	74657648	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74657648G>A	uc001owe.1	-	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D	ARRB1_uc001owf.1_Silent_p.D334D	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	342	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|promoter binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)	1														0.425926	184.731354	185.509707	69	93	GG		KEEP	---	---	---	---	capture			Silent	SNP	74657648	74657648	998	11	G	A	A	40	40	ARRB1	A	1	1
OLFML1	283298	broad.mit.edu	36	11	7466180	7466180	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7466180G>A	uc001mfi.1	+	c.376G>A	c.(376-378)GAA>AAA	p.E126K	OLFML1_uc001mfh.1_Missense_Mutation_p.E126K	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	126	Potential.					extracellular region				ovary(2)	2														0.44	94.961456	95.197207	33	42	GG		KEEP	---	---	---	---	capture		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	Missense_Mutation	SNP	7466180	7466180	11261	11	G	A	A	33	33	OLFML1	A	2	2
ARRB1	408	broad.mit.edu	36	11	74662819	74662819	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74662819G>A	uc001owe.1	-	c.861C>T	c.(859-861)CTC>CTT	p.L287L	ARRB1_uc001owf.1_Silent_p.L287L	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	287					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|promoter binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)	1														0.191446	174.870742	218.577795	94	397	GG		KEEP	---	---	---	---	capture			Silent	SNP	74662819	74662819	998	11	G	A	A	37	37	ARRB1	A	1	1
RPS3	6188	broad.mit.edu	36	11	74792878	74792878	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74792878C>T	uc001owh.1	+	c.517C>T	c.(517-519)CGC>TGC	p.R173C	RPS3_uc001owi.1_Missense_Mutation_p.R173C|RPS3_uc001owk.1_Missense_Mutation_p.R47C|SNORD15B_uc001owl.1_5'Flank	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	173					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0														0.391304	97.523797	98.460021	36	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74792878	74792878	14123	11	C	T	T	27	27	RPS3	T	1	1
KLHL35	283212	broad.mit.edu	36	11	74811279	74811279	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74811279C>T	uc001owm.1	-	c.1085G>A	c.(1084-1086)GGC>GAC	p.G362D		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	kelch-like 35	362											0						Colon(77;683 1691 18820 23811)								0.257426	60.400245	65.789438	26	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74811279	74811279	8702	11	C	T	T	26	26	KLHL35	T	2	2
GDPD5	81544	broad.mit.edu	36	11	74824322	74824322	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74824322C>T	uc001owo.2	-	c.1696G>A	c.(1696-1698)GAT>AAT	p.D566N	GDPD5_uc009yuc.1_Missense_Mutation_p.D428N|GDPD5_uc009yud.1_Missense_Mutation_p.D447N|GDPD5_uc001owp.2_Missense_Mutation_p.D566N|GDPD5_uc001own.2_Missense_Mutation_p.D321N	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	566	Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1														0.381579	156.209925	158.08031	58	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74824322	74824322	6595	11	C	T	T	31	31	GDPD5	T	1	1
OLFML1	283298	broad.mit.edu	36	11	7487765	7487765	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7487765C>A	uc001mfi.1	+	c.979C>A	c.(979-981)CTC>ATC	p.L327I		NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	327	Olfactomedin-like.					extracellular region				ovary(2)	2														0.205128	58.498271	71.099294	32	124	CC		KEEP	---	---	---	---	capture		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	Missense_Mutation	SNP	7487765	7487765	11261	11	C	A	A	32	32	OLFML1	A	3	3
SERPINH1	871	broad.mit.edu	36	11	74955535	74955535	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74955535G>A	uc001owr.1	+	c.493G>A	c.(493-495)GAC>AAC	p.D165N	SERPINH1_uc009yuf.1_Missense_Mutation_p.D165N|SERPINH1_uc009yug.1_Missense_Mutation_p.D165N|SERPINH1_uc001ows.1_Missense_Mutation_p.D165N|SERPINH1_uc001owt.1_5'Flank	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	165					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)													0.424051	180.397359	181.191672	67	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74955535	74955535	14605	11	G	A	A	37	37	SERPINH1	A	1	1
MAP6	4135	broad.mit.edu	36	11	74976112	74976112	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74976112G>A	uc001owu.1	-	c.2082C>T	c.(2080-2082)CAC>CAT	p.H694H		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	694	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					Esophageal Squamous(181;1115 2007 8647 17065 22697)								0.204918	97.723638	117.432915	50	194	GG		KEEP	---	---	---	---	capture			Silent	SNP	74976112	74976112	9647	11	G	A	A	40	40	MAP6	A	1	1
DGAT2	84649	broad.mit.edu	36	11	75178976	75178977	+	Missense_Mutation	DNP	AC	CG	CG			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:75178976_75178977AC>CG	uc001oxa.2	+	c.346_347AC>CG	c.(346-348)ACA>CGA	p.T116R	DGAT2_uc001oxb.2_Missense_Mutation_p.T73R	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase homolog 2	116	Cytoplasmic (Potential).				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	Ovarian(111;0.103)					Melanoma(35;811 1096 8354 24009 39363)								0.17757	84.236522	105.187469	38	176	AA		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	75178976	75178977	4637	11	AC	CG	CG	6	6	DGAT2	CG	4	4
WNT11	7481	broad.mit.edu	36	11	75575806	75575806	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:75575806A>G	uc001oxe.1	-	c.1016T>C	c.(1015-1017)GTC>GCC	p.V339A		NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	339					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|promoter binding|protein kinase activator activity|Ras GTPase activator activity|transcription activator activity|transcription repressor activity			skin(1)	1														0.414894	117.816467	118.40829	39	55	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75575806	75575806	17958	11	A	G	G	10	10	WNT11	G	4	4
PRKRIR	5612	broad.mit.edu	36	11	75740664	75740664	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:75740664C>T	uc001oxh.1	-	c.1178G>A	c.(1177-1179)CGA>CAA	p.R393Q		NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	393					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3														0.22293	73.336871	84.427775	35	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75740664	75740664	12969	11	C	T	T	31	31	PRKRIR	T	1	1
LRRC32	2615	broad.mit.edu	36	11	76048575	76048575	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76048575C>T	uc001oxq.2	-	c.1710G>A	c.(1708-1710)GGG>GGA	p.G570G	LRRC32_uc001oxr.2_Silent_p.G570G	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	570	Extracellular (Potential).					integral to plasma membrane					0														0.182796	27.784116	36.642682	17	76	CC		KEEP	---	---	---	---	capture			Silent	SNP	76048575	76048575	9362	11	C	T	T	30	30	LRRC32	T	2	2
LRRC32	2615	broad.mit.edu	36	11	76048786	76048786	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76048786C>A	uc001oxq.2	-	c.1499G>T	c.(1498-1500)GGC>GTC	p.G500V	LRRC32_uc001oxr.2_Missense_Mutation_p.G500V	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	500	Extracellular (Potential).|LRR 18.					integral to plasma membrane					0														0.489362	123.229644	123.239147	46	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76048786	76048786	9362	11	C	A	A	26	26	LRRC32	A	3	3
TSKU	25987	broad.mit.edu	36	11	76184871	76184871	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76184871G>T	uc001oxt.1	+	c.563G>T	c.(562-564)AGC>ATC	p.S188I	TSKU_uc009yuk.1_Missense_Mutation_p.S188I	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin	188	LRR 6.					extracellular region					0	Ovarian(111;0.112)													0.454167	297.714563	298.157008	109	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76184871	76184871	17178	11	G	T	T	34	34	TSKU	T	3	3
ACER3	55331	broad.mit.edu	36	11	76405375	76405375	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76405375G>A	uc009yum.1	+	c.608G>A	c.(607-609)CGA>CAA	p.R203Q	ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc009yun.1_Missense_Mutation_p.R161Q|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yuo.1_Missense_Mutation_p.R108Q	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	phytoceramidase, alkaline	203					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity				0														0.232804	97.908141	110.260864	44	145	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76405375	76405375	141	11	G	A	A	37	37	ACER3	A	1	1
MYO7A	4647	broad.mit.edu	36	11	76545639	76545639	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76545639G>A	uc001oyb.2	+	c.676G>A	c.(676-678)GCC>ACC	p.A226T	MYO7A_uc009yur.1_Missense_Mutation_p.A226T|MYO7A_uc001oyc.2_Missense_Mutation_p.A226T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	226	Myosin head-like.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.262411	82.72567	89.918524	37	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76545639	76545639	10477	11	G	A	A	38	38	MYO7A	A	1	1
MYO7A	4647	broad.mit.edu	36	11	76548909	76548909	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76548909G>A	uc001oyb.2	+	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	MYO7A_uc009yur.1_Missense_Mutation_p.R378H|MYO7A_uc001oyc.2_Missense_Mutation_p.R378H	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	378	Myosin head-like.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.538462	20.424942	20.44161	7	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76548909	76548909	10477	11	G	A	A	38	38	MYO7A	A	1	1
MYO7A	4647	broad.mit.edu	36	11	76570138	76570138	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76570138G>A	uc001oyb.2	+	c.2759G>A	c.(2758-2760)CGG>CAG	p.R920Q	MYO7A_uc009yur.1_Missense_Mutation_p.R920Q|MYO7A_uc001oyc.2_Missense_Mutation_p.R920Q|MYO7A_uc001oyd.1_Missense_Mutation_p.R260Q|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.R131Q	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	920	Potential.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.206897	11.132909	13.444591	6	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76570138	76570138	10477	11	G	A	A	39	39	MYO7A	A	1	1
MYO7A	4647	broad.mit.edu	36	11	76591050	76591050	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76591050C>T	uc001oyb.2	+	c.5101C>T	c.(5101-5103)CGA>TGA	p.R1701*	MYO7A_uc001oyc.2_Nonsense_Mutation_p.R1663*|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Nonsense_Mutation_p.R873*|MYO7A_uc001oye.2_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1701					actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.5	21.798081	21.798081	8	8	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	76591050	76591050	10477	11	C	T	T	27	27	MYO7A	T	5	1
MYO7A	4647	broad.mit.edu	36	11	76594893	76594893	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76594893G>A	uc001oyb.2	+	c.5740G>A	c.(5740-5742)GAG>AAG	p.E1914K	MYO7A_uc001oyc.2_Missense_Mutation_p.E1876K|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1914	FERM 2.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.318182	17.215723	17.863031	7	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76594893	76594893	10477	11	G	A	A	37	37	MYO7A	A	1	1
PAK1	5058	broad.mit.edu	36	11	76747657	76747657	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76747657C>A	uc001oyg.2	-	c.531G>T	c.(529-531)GAG>GAT	p.E177D	PAK1_uc001oyh.2_Missense_Mutation_p.E177D|PAK1_uc001oyi.1_Missense_Mutation_p.E177D	NM_001128620	NP_001122092	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 1	177	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2	all_cancers(14;1.75e-18)									735				0.21267	92.286093	109.166243	47	174	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76747657	76747657	11815	11	C	A	A	24	24	PAK1	A	3	3
AQP11	282679	broad.mit.edu	36	11	76978895	76978895	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76978895G>A	uc001oyj.1	+	c.210G>A	c.(208-210)CAG>CAA	p.Q70Q	AQP11_uc009yuu.1_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	70						cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)													0.185484	44.951145	56.454637	23	101	GG		KEEP	---	---	---	---	capture	Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		Silent	SNP	76978895	76978895	834	11	G	A	A	34	34	AQP11	A	2	2
CLNS1A	1207	broad.mit.edu	36	11	77013737	77013737	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77013737C>T	uc001oyk.1	-	c.391G>A	c.(391-393)GAA>AAA	p.E131K	CLNS1A_uc001oyl.1_Missense_Mutation_p.E97K	NM_001293	NP_001284	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	131					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			ovary(1)	1	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)													0.432161	241.417719	242.215895	86	113	CC		KEEP	---	---	---	---	capture	Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		Missense_Mutation	SNP	77013737	77013737	3686	11	C	T	T	31	31	CLNS1A	T	1	1
RSF1	51773	broad.mit.edu	36	11	77060792	77060792	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77060792G>A	uc001oyn.1	-	c.3694C>T	c.(3694-3696)CGT>TGT	p.R1232C	RSF1_uc001oym.1_Missense_Mutation_p.R980C	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1232	Arg-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|transcription activator activity|transcription repressor activity|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)													0.453368	484.160752	484.893183	175	211	GG		KEEP	---	---	---	---	capture	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		Missense_Mutation	SNP	77060792	77060792	14179	11	G	A	A	40	40	RSF1	A	1	1
INTS4	92105	broad.mit.edu	36	11	77290221	77290221	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77290221C>A	uc001oys.1	-	c.2122G>T	c.(2122-2124)GAA>TAA	p.E708*	INTS4_uc001oyt.1_Non-coding_Transcript|C11orf67_uc001oyp.2_Intron	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	708					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)													0.227758	131.138736	150.26772	64	217	CC		KEEP	---	---	---	---	capture	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		Nonsense_Mutation	SNP	77290221	77290221	8081	11	C	A	A	30	30	INTS4	A	5	3
KCTD14	65987	broad.mit.edu	36	11	77405554	77405554	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77405554G>A	uc001oyw.2	-	c.501C>T	c.(499-501)AGC>AGT	p.S167S		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	167						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)				54				0.237745	209.382297	235.018455	97	311	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		Silent	SNP	77405554	77405554	8407	11	G	A	A	38	38	KCTD14	A	1	1
THRSP	7069	broad.mit.edu	36	11	77452642	77452642	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77452642G>A	uc001oyx.1	+	c.67G>A	c.(67-69)GAG>AAG	p.E23K	THRSP_uc009yuv.1_Missense_Mutation_p.E23K	NM_003251	NP_003242	Q92748	THRSP_HUMAN	thyroid hormone-responsive protein	23					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(1)	1	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)									11				0.166667	54.253117	75.118597	33	165	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		Missense_Mutation	SNP	77452642	77452642	16404	11	G	A	A	37	37	THRSP	A	1	1
ALG8	79053	broad.mit.edu	36	11	77502989	77502989	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77502989C>T	uc001oza.1	-	c.644G>A	c.(643-645)CGA>CAA	p.R215Q	ALG8_uc001oyz.1_Missense_Mutation_p.R215Q|ALG8_uc009yux.1_Missense_Mutation_p.R113Q|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	dolichyl pyrophosphate Glc1Man9GlcNAc2	215					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|pancreas(1)	3	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)													0.205882	43.722064	51.901827	21	81	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)		Missense_Mutation	SNP	77502989	77502989	526	11	C	T	T	31	31	ALG8	T	1	1
USP35	57558	broad.mit.edu	36	11	77598589	77598589	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77598589G>T	uc009yva.1	+	c.2040G>T	c.(2038-2040)GAG>GAT	p.E680D	USP35_uc001oze.2_Missense_Mutation_p.E436D|USP35_uc001ozc.2_Missense_Mutation_p.E248D|USP35_uc001ozd.2_Missense_Mutation_p.E291D|USP35_uc001ozf.2_Missense_Mutation_p.E411D	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	680					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)													0.166667	8.255612	11.417369	5	25	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		Missense_Mutation	SNP	77598589	77598589	17630	11	G	T	T	35	35	USP35	T	3	3
GAB2	9846	broad.mit.edu	36	11	77638866	77638866	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77638866C>A	uc001ozh.1	-	c.605G>T	c.(604-606)AGA>ATA	p.R202I	GAB2_uc001ozg.1_Missense_Mutation_p.R164I	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	202					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)													0.196721	219.595773	271.932839	120	490	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		Missense_Mutation	SNP	77638866	77638866	6400	11	C	A	A	32	32	GAB2	A	3	3
NARS2	79731	broad.mit.edu	36	11	77957426	77957426	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77957426G>A	uc001ozi.1	-	c.272C>T	c.(271-273)TCT>TTT	p.S91F		NM_024678	NP_078954	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2	91					asparaginyl-tRNA aminoacylation|aspartyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			ovary(2)	2	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)									0.385246	264.882509	267.702413	94	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77957426	77957426	10567	11	G	A	A	33	33	NARS2	A	2	2
ODZ4	26011	broad.mit.edu	36	11	78058564	78058564	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:78058564G>T	uc001ozl.2	-	c.6474C>A	c.(6472-6474)ATC>ATA	p.I2158I	ODZ4_uc001ozk.2_Silent_p.I383I|ODZ4_uc009yvb.1_Silent_p.I742I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2158	YD 16.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.203125	22.731324	27.978913	13	51	GG		KEEP	---	---	---	---	capture			Silent	SNP	78058564	78058564	11242	11	G	T	T	33	33	ODZ4	T	3	3
ODZ4	26011	broad.mit.edu	36	11	78058652	78058652	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:78058652T>C	uc001ozl.2	-	c.6386A>G	c.(6385-6387)GAC>GGC	p.D2129G	ODZ4_uc001ozk.2_Missense_Mutation_p.D354G|ODZ4_uc009yvb.1_Missense_Mutation_p.D713G	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2129	Extracellular (Potential).|YD 15.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.144928	19.608261	27.973721	10	59	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78058652	78058652	11242	11	T	C	C	58	58	ODZ4	C	4	4
ODZ4	26011	broad.mit.edu	36	11	78060768	78060768	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:78060768G>T	uc001ozl.2	-	c.5751C>A	c.(5749-5751)ATC>ATA	p.I1917I	ODZ4_uc001ozk.2_Silent_p.I142I|ODZ4_uc009yvb.1_Silent_p.I501I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1917	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.230769	43.921651	49.972504	21	70	GG		KEEP	---	---	---	---	capture			Silent	SNP	78060768	78060768	11242	11	G	T	T	33	33	ODZ4	T	3	3
ODZ4	26011	broad.mit.edu	36	11	78060844	78060844	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:78060844T>C	uc001ozl.2	-	c.5675A>G	c.(5674-5676)TAC>TGC	p.Y1892C	ODZ4_uc001ozk.2_Missense_Mutation_p.Y117C|ODZ4_uc009yvb.1_Missense_Mutation_p.Y476C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1892	YD 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.214286	54.350591	61.716252	21	77	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78060844	78060844	11242	11	T	C	C	57	57	ODZ4	C	4	4
ODZ4	26011	broad.mit.edu	36	11	78175684	78175684	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:78175684G>A	uc001ozl.2	-	c.2272C>T	c.(2272-2274)CGG>TGG	p.R758W		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	758	Extracellular (Potential).|EGF-like 7.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.380952	18.50213	18.759923	8	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78175684	78175684	11242	11	G	A	A	38	38	ODZ4	A	1	1
NLRP10	338322	broad.mit.edu	36	11	7937860	7937860	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7937860C>A	uc001mfv.1	-	c.1875G>T	c.(1873-1875)AAG>AAT	p.K625N		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	625							ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8										109				0.207865	75.023809	89.06422	37	141	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Missense_Mutation	SNP	7937860	7937860	10875	11	C	A	A	24	24	NLRP10	A	3	3
NLRP10	338322	broad.mit.edu	36	11	7938154	7938154	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7938154C>T	uc001mfv.1	-	c.1581G>A	c.(1579-1581)TCG>TCA	p.S527S		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	527							ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8									p.S527S(HCC827-Tumor)	109				0.193548	58.794872	72.356634	30	125	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Silent	SNP	7938154	7938154	10875	11	C	T	T	31	31	NLRP10	T	1	1
NLRP10	338322	broad.mit.edu	36	11	7941482	7941482	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7941482C>A	uc001mfv.1	-	c.137G>T	c.(136-138)AGA>ATA	p.R46I		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	46	DAPIN.						ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8										109				0.19697	96.827555	119.434882	52	212	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Missense_Mutation	SNP	7941482	7941482	10875	11	C	A	A	32	32	NLRP10	A	3	3
TUB	7275	broad.mit.edu	36	11	8079718	8079718	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8079718C>T	uc001mfy.1	+	c.1662C>T	c.(1660-1662)TTC>TTT	p.F554F	TUB_uc001mga.1_Silent_p.F499F	NM_003320	NP_003311	P50607	TUB_HUMAN	tubby isoform a	499					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)												0.210526	48.94455	57.778312	24	90	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	Silent	SNP	8079718	8079718	17297	11	C	T	T	31	31	TUB	T	1	1
LMO1	4004	broad.mit.edu	36	11	8205169	8205169	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8205169G>T	uc001mgg.1	-	c.294C>A	c.(292-294)TTC>TTA	p.F98L	LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Missense_Mutation_p.F97L	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1	98	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of gene-specific transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0										78				0.269231	53.60554	57.313985	21	57	GG		KEEP	---	---	---	---	capture		Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)	Missense_Mutation	SNP	8205169	8205169	9180	11	G	T	T	37	37	LMO1	T	3	3
PCF11	51585	broad.mit.edu	36	11	82554690	82554690	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82554690C>T	uc001ozx.2	+	c.1103C>T	c.(1102-1104)TCG>TTG	p.S368L		NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	368	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1														0.148936	10.693405	16.252351	7	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82554690	82554690	11993	11	C	T	T	31	31	PCF11	T	1	1
PCF11	51585	broad.mit.edu	36	11	82557323	82557323	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82557323G>A	uc001ozx.2	+	c.2298G>A	c.(2296-2298)ACG>ACA	p.T766T		NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	766	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1														0.194737	71.358108	87.881209	37	153	GG		KEEP	---	---	---	---	capture			Silent	SNP	82557323	82557323	11993	11	G	A	A	37	37	PCF11	A	1	1
PCF11	51585	broad.mit.edu	36	11	82557923	82557923	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82557923T>C	uc001ozx.2	+	c.2898T>C	c.(2896-2898)GGT>GGC	p.G966G		NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	966	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1														0.378049	99.624824	100.68739	31	51	TT		KEEP	---	---	---	---	capture			Silent	SNP	82557923	82557923	11993	11	T	C	C	58	58	PCF11	C	4	4
PCF11	51585	broad.mit.edu	36	11	82558369	82558369	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82558369G>T	uc001ozx.2	+	c.3344G>T	c.(3343-3345)AGA>ATA	p.R1115I		NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1115					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1														0.164835	46.22072	65.647867	30	152	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82558369	82558369	11993	11	G	T	T	33	33	PCF11	T	3	3
PCF11	51585	broad.mit.edu	36	11	82560547	82560547	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82560547G>T	uc001ozx.2	+	c.3700G>T	c.(3700-3702)GGA>TGA	p.G1234*		NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1234					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1														0.123529	21.542331	45.128291	21	149	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	82560547	82560547	11993	11	G	T	T	35	35	PCF11	T	5	3
ANKRD42	338699	broad.mit.edu	36	11	82583405	82583405	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82583405G>T	uc001ozz.1	+	c.45G>T	c.(43-45)GAG>GAT	p.E15D	ANKRD42_uc009yvi.1_Missense_Mutation_p.E15D|ANKRD42_uc001paa.1_Missense_Mutation_p.E15D|ANKRD42_uc001pab.1_Missense_Mutation_p.E15D	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	15											0														0.382166	148.309586	150.238212	60	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82583405	82583405	678	11	G	T	T	33	33	ANKRD42	T	3	3
ANKRD42	338699	broad.mit.edu	36	11	82594811	82594811	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82594811G>T	uc001ozz.1	+	c.202G>T	c.(202-204)GCA>TCA	p.A68S	ANKRD42_uc009yvi.1_Missense_Mutation_p.A96S|ANKRD42_uc001paa.1_Missense_Mutation_p.A96S|ANKRD42_uc001pab.1_Missense_Mutation_p.A96S	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	68	ANK 2.										0														0.408284	197.630035	198.874698	69	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82594811	82594811	678	11	G	T	T	34	34	ANKRD42	T	3	3
CCDC90B	60492	broad.mit.edu	36	11	82654567	82654567	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82654567G>A	uc001pae.1	-	c.697C>T	c.(697-699)CGT>TGT	p.R233C	CCDC90B_uc001pac.1_Missense_Mutation_p.R132C|CCDC90B_uc001pad.1_Missense_Mutation_p.R132C|CCDC90B_uc001paf.1_Missense_Mutation_p.R224C	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	233	Helical; (Potential).					integral to membrane|mitochondrion|mitochondrion					0		Acute lymphoblastic leukemia(157;0.103)												0.187097	55.182313	69.40018	29	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82654567	82654567	2994	11	G	A	A	37	37	CCDC90B	A	1	1
CCDC90B	60492	broad.mit.edu	36	11	82667433	82667433	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82667433A>G	uc001pae.1	-	c.308T>C	c.(307-309)GTC>GCC	p.V103A	CCDC90B_uc001pac.1_Missense_Mutation_p.V2A|CCDC90B_uc001pad.1_Missense_Mutation_p.V2A|CCDC90B_uc001paf.1_Missense_Mutation_p.V94A	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	103						integral to membrane|mitochondrion|mitochondrion					0		Acute lymphoblastic leukemia(157;0.103)												0.442105	282.353906	282.911148	84	106	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82667433	82667433	2994	11	A	G	G	10	10	CCDC90B	G	4	4
DLG2	1740	broad.mit.edu	36	11	83021907	83021907	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:83021907G>A	uc001pak.1	-	c.1935C>T	c.(1933-1935)TAC>TAT	p.Y645Y	DLG2_uc001paj.1_Silent_p.Y540Y|DLG2_uc001pal.1_Silent_p.Y540Y|DLG2_uc001pah.1_Silent_p.Y21Y|DLG2_uc001pai.1_Silent_p.Y437Y	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	540	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.434426	148.756441	149.213419	53	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	83021907	83021907	4735	11	G	A	A	40	40	DLG2	A	1	1
DLG2	1740	broad.mit.edu	36	11	83923419	83923419	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:83923419A>G	uc001pak.1	-	c.361T>C	c.(361-363)TAT>CAT	p.Y121H	DLG2_uc001paj.1_Missense_Mutation_p.Y16H|DLG2_uc001pal.1_Missense_Mutation_p.Y16H	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	16						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.479532	563.091862	563.215214	164	178	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83923419	83923419	4735	11	A	G	G	14	14	DLG2	G	4	4
STK33	65975	broad.mit.edu	36	11	8418817	8418817	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8418817C>T	uc001mgi.1	-	c.931G>A	c.(931-933)GTC>ATC	p.V311I	STK33_uc001mgj.1_Missense_Mutation_p.V311I|STK33_uc001mgk.1_Missense_Mutation_p.V311I|STK33_uc001mgl.2_Missense_Mutation_p.V124I|STK33_uc009yfp.1_Missense_Mutation_p.V33I	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	311	Protein kinase.				protein phosphorylation	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7										286				0.428571	8.024204	8.055223	3	4	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	Missense_Mutation	SNP	8418817	8418817	15820	11	C	T	T	19	19	STK33	T	1	1
TMEM126B	55863	broad.mit.edu	36	11	85020479	85020479	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:85020479T>G	uc001pao.1	+	c.92T>G	c.(91-93)TTT>TGT	p.F31C	TMEM126B_uc001pan.1_Missense_Mutation_p.F31C|TMEM126B_uc001pap.1_Missense_Mutation_p.F31C|TMEM126B_uc001paq.1_Missense_Mutation_p.F31C	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	61						integral to membrane					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)												0.174757	40.586409	50.864198	18	85	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85020479	85020479	16570	11	T	G	G	64	64	TMEM126B	G	4	4
CCDC89	220388	broad.mit.edu	36	11	85074200	85074200	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:85074200C>T	uc001pau.1	-	c.622G>A	c.(622-624)GAG>AAG	p.E208K		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	208	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)												0.408935	323.765645	325.873579	119	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85074200	85074200	2991	11	C	T	T	31	31	CCDC89	T	1	1
SYTL2	54843	broad.mit.edu	36	11	85114770	85114770	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:85114770C>A	uc001pbb.1	-	c.378G>T	c.(376-378)AAG>AAT	p.K126N	SYTL2_uc001pbd.1_Missense_Mutation_p.K126N|SYTL2_uc001pbc.1_Missense_Mutation_p.K126N|SYTL2_uc009yvj.1_Non-coding_Transcript|SYTL2_uc001pbe.1_Intron	NM_206927	NP_996810	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform c	179					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)												0.432225	455.576579	457.149219	169	222	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	Missense_Mutation	SNP	85114770	85114770	16004	11	C	A	A	32	32	SYTL2	A	3	3
PICALM	8301	broad.mit.edu	36	11	85457365	85457365	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:85457365C>T	uc001pbm.1	-	c.106G>A	c.(106-108)GGG>AGG	p.G36R	PICALM_uc001pbl.1_Missense_Mutation_p.G36R|PICALM_uc001pbn.1_Missense_Mutation_p.G36R	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	36	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)								415				0.188679	21.840751	26.630803	10	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85457365	85457365	12304	11	C	T	T	22	22	PICALM	T	2	2
EED	8726	broad.mit.edu	36	11	85657222	85657222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:85657222C>T	uc001pbr.1	+	c.937C>T	c.(937-939)CGA>TGA	p.R313*	EED_uc001pbp.1_Nonsense_Mutation_p.R313*|EED_uc001pbq.1_Nonsense_Mutation_p.R313*|EED_uc001pbs.1_Intron	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	313	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding|transcription repressor activity			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)												0.170103	113.442735	153.376356	66	322	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	85657222	85657222	5109	11	C	T	T	27	27	EED	T	5	1
EED	8726	broad.mit.edu	36	11	85667130	85667130	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:85667130G>A	uc001pbr.1	+	c.1316G>A	c.(1315-1317)CGA>CAA	p.R439Q	EED_uc001pbp.1_Missense_Mutation_p.R414Q|EED_uc001pbq.1_3'UTR|EED_uc001pbs.1_Missense_Mutation_p.R334Q	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	414	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 7.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding|transcription repressor activity			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)												0.172727	67.008499	89.275029	38	182	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85667130	85667130	5109	11	G	A	A	37	37	EED	A	1	1
ME3	10873	broad.mit.edu	36	11	85853888	85853888	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:85853888A>G	uc001pbz.1	-	c.812T>C	c.(811-813)TTT>TCT	p.F271S	ME3_uc001pca.1_Missense_Mutation_p.F271S|ME3_uc009yvk.1_Missense_Mutation_p.F271S	NM_001014811	NP_006671	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent,	271					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)									0.43578	328.126745	328.90374	95	123	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85853888	85853888	9808	11	A	G	G	1	1	ME3	G	4	4
PRSS23	11098	broad.mit.edu	36	11	86196976	86196976	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:86196976G>A	uc001pcb.1	+	c.643G>A	c.(643-645)GAG>AAG	p.E215K	PRSS23_uc001pcc.1_Intron|PRSS23_uc009yvl.1_Missense_Mutation_p.E215K	NM_007173	NP_009104	O95084	PRS23_HUMAN	protease, serine, 23 precursor	215					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.194175	36.739039	45.731334	20	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86196976	86196976	13070	11	G	A	A	37	37	PRSS23	A	1	1
FZD4	8322	broad.mit.edu	36	11	86340783	86340783	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:86340783G>T	uc001pce.1	-	c.663C>A	c.(661-663)ATC>ATA	p.I221I	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4	221	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm|integral to plasma membrane	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.132231	15.808197	31.72476	16	105	GG		KEEP	---	---	---	---	capture			Silent	SNP	86340783	86340783	6383	11	G	T	T	33	33	FZD4	T	3	3
FZD4	8322	broad.mit.edu	36	11	86343715	86343715	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:86343715G>T	uc001pce.1	-	c.61C>A	c.(61-63)CTG>ATG	p.L21M		NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4	21					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm|integral to plasma membrane	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.235294	15.277694	17.461754	8	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86343715	86343715	6383	11	G	T	T	33	33	FZD4	T	3	3
ST5	6764	broad.mit.edu	36	11	8680726	8680726	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8680726G>A	uc001mgt.1	-	c.2689C>T	c.(2689-2691)CGC>TGC	p.R897C	ST5_uc009yfr.1_Missense_Mutation_p.R477C|ST5_uc001mgu.1_Missense_Mutation_p.R477C|ST5_uc001mgv.1_Missense_Mutation_p.R897C|ST5_uc009yfs.1_Non-coding_Transcript	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	897	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding				0														0.460606	210.123925	210.340388	76	89	GG		KEEP	---	---	---	---	capture		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	Missense_Mutation	SNP	8680726	8680726	15738	11	G	A	A	38	38	ST5	A	1	1
ST5	6764	broad.mit.edu	36	11	8689312	8689312	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8689312G>A	uc001mgt.1	-	c.2215C>T	c.(2215-2217)CTC>TTC	p.L739F	ST5_uc009yfr.1_Missense_Mutation_p.L319F|ST5_uc001mgu.1_Missense_Mutation_p.L319F|ST5_uc001mgv.1_Missense_Mutation_p.L739F|ST5_uc009yfs.1_Non-coding_Transcript	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	739	UDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding				0														0.202765	88.964839	106.803948	44	173	GG		KEEP	---	---	---	---	capture		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	Missense_Mutation	SNP	8689312	8689312	15738	11	G	A	A	34	34	ST5	A	2	2
ST5	6764	broad.mit.edu	36	11	8708115	8708115	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8708115C>T	uc001mgt.1	-	c.1298G>A	c.(1297-1299)AGA>AAA	p.R433K	ST5_uc009yfr.1_Intron|ST5_uc001mgu.1_Intron|ST5_uc001mgv.1_Missense_Mutation_p.R433K|ST5_uc001mgw.1_Missense_Mutation_p.R433K	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	433	Pro-rich.|Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding				0														0.204787	344.097891	404.927386	154	598	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	Missense_Mutation	SNP	8708115	8708115	15738	11	C	T	T	32	32	ST5	T	2	2
CTSC	1075	broad.mit.edu	36	11	87707779	87707779	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:87707779C>T	uc001pck.2	-	c.292G>A	c.(292-294)GAC>AAC	p.D98N	CTSC_uc001pcl.2_5'UTR|CTSC_uc001pcm.2_Missense_Mutation_p.D98N|CTSC_uc001pcn.2_Missense_Mutation_p.D98N	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	98					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.153285	30.509791	46.254321	21	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87707779	87707779	4190	11	C	T	T	29	29	CTSC	T	2	2
TYR	7299	broad.mit.edu	36	11	88551053	88551053	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:88551053T>C	uc001pcs.1	+	c.284T>C	c.(283-285)TTC>TCC	p.F95S		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	95	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|oxidation-reduction process|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									0.239316	81.458635	88.704728	28	89	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88551053	88551053	17370	11	T	C	C	62	62	TYR	C	4	4
TYR	7299	broad.mit.edu	36	11	88551424	88551424	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:88551424G>A	uc001pcs.1	+	c.655G>A	c.(655-657)GAA>AAA	p.E219K		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	219	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|oxidation-reduction process|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									0.23348	118.656722	133.425222	53	174	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88551424	88551424	17370	11	G	A	A	41	41	TYR	A	2	2
C11orf17	56672	broad.mit.edu	36	11	8893021	8893021	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8893021C>A	uc001mgx.1	+	c.376C>A	c.(376-378)CTG>ATG	p.L126M	C11orf17_uc001mgy.1_Missense_Mutation_p.L99M|C11orf17_uc001mgz.1_Missense_Mutation_p.L126M|C11orf17_uc001mha.1_Missense_Mutation_p.L126M	NM_020642	NP_878904	Q9NQ31	BCA3_HUMAN	chromosome 11 open reading frame 17	126						nucleus	protein binding				0												OREG0020740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.470968	204.952595	205.066891	73	82	CC		KEEP	---	---	---	---	capture		Epithelial(150;5.08e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0243)	Missense_Mutation	SNP	8893021	8893021	1669	11	C	A	A	28	28	C11orf17	A	3	3
TRIM49	57093	broad.mit.edu	36	11	89171303	89171303	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:89171303C>T	uc001pdb.1	-	c.1002G>A	c.(1000-1002)CAG>CAA	p.Q334Q		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	ring finger protein 18	334	B30.2/SPRY.					intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.132597	32.164576	55.906094	24	157	CC		KEEP	---	---	---	---	capture			Silent	SNP	89171303	89171303	17069	11	C	T	T	32	32	TRIM49	T	2	2
CHORDC1	26973	broad.mit.edu	36	11	89595749	89595749	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:89595749G>A	uc001pdg.1	-	c.22C>T	c.(22-24)CGG>TGG	p.R8W	CHORDC1_uc009yvz.1_Missense_Mutation_p.R8W	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain-containing	8	Interaction with PPP5C (By similarity).|CHORD 1.				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)												0.126437	12.868608	24.72295	11	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89595749	89595749	3499	11	G	A	A	39	39	CHORDC1	A	1	1
NRIP3	56675	broad.mit.edu	36	11	8966248	8966248	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8966248G>T	uc001mhg.1	-	c.332C>A	c.(331-333)TCT>TAT	p.S111Y		NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	111					proteolysis		aspartic-type endopeptidase activity				0														0.389241	322.217597	325.624493	123	193	GG		KEEP	---	---	---	---	capture		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	Missense_Mutation	SNP	8966248	8966248	11059	11	G	T	T	33	33	NRIP3	T	3	3
SCUBE2	57758	broad.mit.edu	36	11	9037434	9037434	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:9037434G>A	uc001mhh.1	-	c.1082C>T	c.(1081-1083)TCT>TTT	p.S361F	SCUBE2_uc001mhi.1_Missense_Mutation_p.S361F|SCUBE2_uc001mhj.1_Missense_Mutation_p.S361F	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein	361	EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)	1														0.165289	35.616735	48.489244	20	101	GG		KEEP	---	---	---	---	capture		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	Missense_Mutation	SNP	9037434	9037434	14428	11	G	A	A	33	33	SCUBE2	A	2	2
DENND5A	23258	broad.mit.edu	36	11	9182188	9182188	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:9182188C>A	uc001mhl.1	-	c.544G>T	c.(544-546)GAC>TAC	p.D182Y		NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	182										liver(1)	1														0.155738	26.538934	40.35879	19	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9182188	9182188	4615	11	C	A	A	32	32	DENND5A	A	3	3
FAT3	120114	broad.mit.edu	36	11	92170799	92170799	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92170799C>T	uc001pdj.2	+	c.4972C>T	c.(4972-4974)CGC>TGC	p.R1658C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1658	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.411765	226.351853	227.740815	84	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92170799	92170799	5927	11	C	T	T	27	27	FAT3	T	1	1
FAT3	120114	broad.mit.edu	36	11	92171301	92171301	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92171301C>T	uc001pdj.2	+	c.5474C>T	c.(5473-5475)ACG>ATG	p.T1825M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1825	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.233766	37.806696	42.806078	18	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92171301	92171301	5927	11	C	T	T	19	19	FAT3	T	1	1
FAT3	120114	broad.mit.edu	36	11	92173441	92173441	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92173441C>A	uc001pdj.2	+	c.7614C>A	c.(7612-7614)GAC>GAA	p.D2538E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2538	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.415385	77.910429	78.31748	27	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92173441	92173441	5927	11	C	A	A	20	20	FAT3	A	3	3
FAT3	120114	broad.mit.edu	36	11	92204553	92204553	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92204553C>T	uc001pdj.2	+	c.9599C>T	c.(9598-9600)TCG>TTG	p.S3200L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3200	Cadherin 29.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.442857	83.50759	83.707609	31	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92204553	92204553	5927	11	C	T	T	31	31	FAT3	T	1	1
FAT3	120114	broad.mit.edu	36	11	92210577	92210577	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92210577A>G	uc001pdj.2	+	c.10325A>G	c.(10324-10326)AAC>AGC	p.N3442S	FAT3_uc001pdi.2_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3442	Extracellular (Potential).|Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.15625	33.567611	44.390611	15	81	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92210577	92210577	5927	11	A	G	G	2	2	FAT3	G	4	4
FAT3	120114	broad.mit.edu	36	11	92239724	92239724	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92239724C>T	uc001pdj.2	+	c.11828C>T	c.(11827-11829)GCG>GTG	p.A3943V	FAT3_uc001pdi.2_Missense_Mutation_p.A383V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3943	Laminin G-like.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.45122	101.072013	101.24001	37	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92239724	92239724	5927	11	C	T	T	27	27	FAT3	T	1	1
CCDC67	159989	broad.mit.edu	36	11	92743910	92743910	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92743910G>A	uc001pdq.1	+	c.605G>A	c.(604-606)AGC>AAC	p.S202N	CCDC67_uc001pdo.1_Missense_Mutation_p.S202N|CCDC67_uc001pdp.2_Missense_Mutation_p.S202N	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	202										ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)												0.436364	68.688441	68.883171	24	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92743910	92743910	2962	11	G	A	A	34	34	CCDC67	A	2	2
HEPHL1	341208	broad.mit.edu	36	11	93418565	93418565	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93418565G>A	uc001pep.2	+	c.249G>A	c.(247-249)ACG>ACA	p.T83T		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	83	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.253731	37.540628	41.232807	17	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	93418565	93418565	7338	11	G	A	A	39	39	HEPHL1	A	1	1
HEPHL1	341208	broad.mit.edu	36	11	93448098	93448098	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93448098C>A	uc001pep.2	+	c.1615C>A	c.(1615-1617)CTT>ATT	p.L539I		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	539	Plastocyanin-like 3.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.460432	171.867612	172.058836	64	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93448098	93448098	7338	11	C	A	A	32	32	HEPHL1	A	3	3
HEPHL1	341208	broad.mit.edu	36	11	93461700	93461700	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93461700G>A	uc001pep.2	+	c.2212G>A	c.(2212-2214)GCC>ACC	p.A738T		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	738	Plastocyanin-like 5.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.465909	229.726018	229.904306	82	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93461700	93461700	7338	11	G	A	A	38	38	HEPHL1	A	1	1
PANX1	24145	broad.mit.edu	36	11	93552520	93552520	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93552520G>A	uc001per.1	+	c.650G>A	c.(649-651)CGC>CAC	p.R217H	PANX1_uc001peq.2_Missense_Mutation_p.R217H	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	217	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.523437	190.317341	190.378005	67	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93552520	93552520	11837	11	G	A	A	38	38	PANX1	A	1	1
GPR83	10888	broad.mit.edu	36	11	93773880	93773880	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93773880T>C	uc001pet.1	-	c.182A>G	c.(181-183)TAC>TGC	p.Y61C		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	61	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.209302	45.212629	51.931647	18	68	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93773880	93773880	6988	11	T	C	C	57	57	GPR83	C	4	4
MRE11A	4361	broad.mit.edu	36	11	93840635	93840635	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93840635G>A	uc001peu.1	-	c.1090C>T	c.(1090-1092)CGA>TGA	p.R364*	MRE11A_uc001pev.1_Nonsense_Mutation_p.R364*|MRE11A_uc009ywj.1_Nonsense_Mutation_p.R367*	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	364					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(3)|lung(1)	4		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)								377				0.19802	78.989118	96.139525	40	162	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93840635	93840635	10151	11	G	A	A	40	40	MRE11A	A	5	1
MRE11A	4361	broad.mit.edu	36	11	93851613	93851613	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93851613C>A	uc001peu.1	-	c.480G>T	c.(478-480)GAG>GAT	p.E160D	MRE11A_uc001pev.1_Missense_Mutation_p.E160D|MRE11A_uc009ywj.1_Missense_Mutation_p.E163D	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	160					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(3)|lung(1)	4		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)								377				0.429752	138.667138	139.190306	52	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93851613	93851613	10151	11	C	A	A	32	32	MRE11A	A	3	3
PIWIL4	143689	broad.mit.edu	36	11	93950264	93950264	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93950264C>T	uc001pfa.1	+	c.471C>T	c.(469-471)TTC>TTT	p.F157F	PIWIL4_uc009ywk.1_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	157					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.244898	110.403066	122.023972	48	148	CC		KEEP	---	---	---	---	capture			Silent	SNP	93950264	93950264	12384	11	C	T	T	31	31	PIWIL4	T	1	1
PIWIL4	143689	broad.mit.edu	36	11	93966332	93966332	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93966332C>T	uc001pfa.1	+	c.1027C>T	c.(1027-1029)CAG>TAG	p.Q343*	PIWIL4_uc009ywk.1_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	343	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.417112	211.00152	212.126335	78	109	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93966332	93966332	12384	11	C	T	T	25	25	PIWIL4	T	5	2
AMOTL1	154810	broad.mit.edu	36	11	94194422	94194422	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:94194422G>A	uc001pfb.1	+	c.1200G>A	c.(1198-1200)GGG>GGA	p.G400G	AMOTL1_uc001pfc.1_Silent_p.G350G	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	400						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)												0.26087	27.100899	29.469169	12	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	94194422	94194422	586	11	G	A	A	42	42	AMOTL1	A	2	2
KDM4D	55693	broad.mit.edu	36	11	94370538	94370538	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:94370538C>T	uc001pfe.1	+	c.354C>T	c.(352-354)TTC>TTT	p.F118F	KDM4D_uc009ywm.1_Silent_p.F118F	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	118					chromatin modification|oxidation-reduction process|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				0														0.245353	150.310111	166.205073	66	203	CC		KEEP	---	---	---	---	capture			Silent	SNP	94370538	94370538	8437	11	C	T	T	31	31	KDM4D	T	1	1
KDM4D	55693	broad.mit.edu	36	11	94371707	94371707	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:94371707T>G	uc001pfe.1	+	c.1523T>G	c.(1522-1524)CTC>CGC	p.L508R	KDM4D_uc009ywm.1_Missense_Mutation_p.L508R	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	508					chromatin modification|oxidation-reduction process|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				0														0.381579	85.161904	86.094693	29	47	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94371707	94371707	8437	11	T	G	G	54	54	KDM4D	G	4	4
ENDOD1	23052	broad.mit.edu	36	11	94502208	94502208	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:94502208C>T	uc001pfh.2	+	c.1320C>T	c.(1318-1320)TTC>TTT	p.F440F		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1	440						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)												0.215434	138.621469	161.840127	67	244	CC		KEEP	---	---	---	---	capture			Silent	SNP	94502208	94502208	5307	11	C	T	T	30	30	ENDOD1	T	2	2
ENDOD1	23052	broad.mit.edu	36	11	94502348	94502348	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:94502348G>A	uc001pfh.2	+	c.1460G>A	c.(1459-1461)CGG>CAG	p.R487Q		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1	487						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)												0.186508	101.27964	124.481417	47	205	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94502348	94502348	5307	11	G	A	A	39	39	ENDOD1	A	1	1
SESN3	143686	broad.mit.edu	36	11	94548315	94548315	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:94548315C>A	uc001pfk.1	-	c.1387G>T	c.(1387-1389)GAA>TAA	p.E463*		NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	463					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.25	96.340953	106.81385	46	138	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.234)	Nonsense_Mutation	SNP	94548315	94548315	14614	11	C	A	A	32	32	SESN3	A	5	3
SESN3	143686	broad.mit.edu	36	11	94557240	94557240	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:94557240G>T	uc001pfk.1	-	c.929C>A	c.(928-930)CCT>CAT	p.P310H	SESN3_uc001pfl.1_Missense_Mutation_p.P310H	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	310					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.236641	66.049701	74.363271	31	100	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.234)	Missense_Mutation	SNP	94557240	94557240	14614	11	G	T	T	35	35	SESN3	T	3	3
SESN3	143686	broad.mit.edu	36	11	94564360	94564360	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:94564360G>T	uc001pfk.1	-	c.198C>A	c.(196-198)TAC>TAA	p.Y66*	SESN3_uc001pfl.1_Nonsense_Mutation_p.Y66*	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	66					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.218045	135.709751	155.200112	58	208	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.234)	Nonsense_Mutation	SNP	94564360	94564360	14614	11	G	T	T	36	36	SESN3	T	5	3
ZNF143	7702	broad.mit.edu	36	11	9503460	9503460	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:9503460G>T	uc001mhr.1	+	c.1784G>T	c.(1783-1785)AGA>ATA	p.R595I	ZNF143_uc009yfu.1_Missense_Mutation_p.R594I	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	595					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|RNA polymerase III transcription factor activity|specific RNA polymerase II transcription factor activity|zinc ion binding				0														0.379747	150.040228	152.051739	60	98	GG		KEEP	---	---	---	---	capture		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	Missense_Mutation	SNP	9503460	9503460	18323	11	G	T	T	33	33	ZNF143	T	3	3
MTMR2	8898	broad.mit.edu	36	11	95222592	95222592	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:95222592C>A	uc001pfu.2	-	c.887G>T	c.(886-888)AGC>ATC	p.S296I	MTMR2_uc001pfs.2_Missense_Mutation_p.S224I|MTMR2_uc009ywo.1_Missense_Mutation_p.S224I|MTMR2_uc001pft.2_Missense_Mutation_p.S224I|MTMR2_uc001pfv.2_Missense_Mutation_p.S224I	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	296	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.442804	330.947273	331.721435	120	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95222592	95222592	10337	11	C	A	A	28	28	MTMR2	A	3	3
MTMR2	8898	broad.mit.edu	36	11	95238419	95238419	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:95238419C>T	uc001pfu.2	-	c.256G>A	c.(256-258)GAC>AAC	p.D86N	MTMR2_uc001pfs.2_Missense_Mutation_p.D14N|MTMR2_uc009ywo.1_Missense_Mutation_p.D14N|MTMR2_uc001pft.2_Missense_Mutation_p.D14N|MTMR2_uc001pfv.2_Missense_Mutation_p.D14N	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	86	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.178707	94.059224	119.6179	47	216	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95238419	95238419	10337	11	C	T	T	32	32	MTMR2	T	2	2
MAML2	84441	broad.mit.edu	36	11	95358354	95358354	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:95358354G>A	uc001pfw.1	-	c.2444C>T	c.(2443-2445)GCT>GTT	p.A815V		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	815					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)								501				0.239437	43.737451	48.139369	17	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95358354	95358354	9589	11	G	A	A	34	34	MAML2	A	2	2
CCDC82	79780	broad.mit.edu	36	11	95757542	95757542	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:95757542T>C	uc009ywp.1	-	c.18A>G	c.(16-18)AGA>AGG	p.R6R	CCDC82_uc009ywq.1_Silent_p.R6R|CCDC82_uc001pfx.2_Silent_p.R6R|CCDC82_uc009ywr.1_Silent_p.R6R|CCDC82_uc009yws.1_Silent_p.R6R	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	6							protein binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.380531	146.10682	147.518434	43	70	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.154)	Silent	SNP	95757542	95757542	2980	11	T	C	C	58	58	CCDC82	C	4	4
SBF2	81846	broad.mit.edu	36	11	9768760	9768760	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:9768760G>A	uc001mib.2	-	c.4617C>T	c.(4615-4617)GTC>GTT	p.V1539V	SBF2_uc001mic.2_5'Flank|SBF2_uc001mid.2_Silent_p.V183V	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1539	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			ovary(1)	1														0.18	124.594525	158.31901	63	287	GG		KEEP	---	---	---	---	capture		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	Silent	SNP	9768760	9768760	14340	11	G	A	A	33	33	SBF2	A	2	2
SBF2	81846	broad.mit.edu	36	11	9942001	9942001	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:9942001C>T	uc001mib.2	-	c.1605G>A	c.(1603-1605)TCG>TCA	p.S535S	SBF2_uc001mif.2_Silent_p.S291S|SBF2_uc001mih.2_Silent_p.S64S	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	535					myelination	cytoplasm|membrane	phosphatase activity|protein binding			ovary(1)	1														0.131148	9.256867	17.328609	8	53	CC		KEEP	---	---	---	---	capture		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	Silent	SNP	9942001	9942001	14340	11	C	T	T	31	31	SBF2	T	1	1
CNTN5	53942	broad.mit.edu	36	11	99732094	99732094	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:99732094C>T	uc001pga.1	+	c.3236C>T	c.(3235-3237)TCT>TTT	p.S1079F	CNTN5_uc001pgb.1_Missense_Mutation_p.S1005F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	1079					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)								1117				0.469388	67.516955	67.557235	23	26	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	Missense_Mutation	SNP	99732094	99732094	3782	11	C	T	T	32	32	CNTN5	T	2	2
ANO4	121601	broad.mit.edu	36	12	100004709	100004709	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100004709C>T	uc001thx.1	+	c.1677C>T	c.(1675-1677)TTC>TTT	p.F559F	ANO4_uc001thw.1_Silent_p.F524F|ANO4_uc001thy.1_Silent_p.F79F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	559	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(4)	4														0.2287	125.834999	140.87188	51	172	CC		KEEP	---	---	---	---	capture			Silent	SNP	100004709	100004709	707	12	C	T	T	32	32	ANO4	T	2	2
UTP20	27340	broad.mit.edu	36	12	100260418	100260418	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100260418A>C	uc001tia.1	+	c.4165A>C	c.(4165-4167)AGC>CGC	p.S1389R		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1389					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4														0.19084	51.498599	63.206856	25	106	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100260418	100260418	17664	12	A	C	C	3	3	UTP20	C	4	4
UTP20	27340	broad.mit.edu	36	12	100274959	100274959	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100274959G>T	uc001tia.1	+	c.5659G>T	c.(5659-5661)GAA>TAA	p.E1887*		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1887					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4														0.245614	61.136586	67.861335	28	86	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	100274959	100274959	17664	12	G	T	T	33	33	UTP20	T	5	3
UTP20	27340	broad.mit.edu	36	12	100289051	100289051	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100289051G>A	uc001tia.1	+	c.6772G>A	c.(6772-6774)GAA>AAA	p.E2258K		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2258					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4														0.190972	105.554846	131.266469	55	233	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100289051	100289051	17664	12	G	A	A	37	37	UTP20	A	1	1
UTP20	27340	broad.mit.edu	36	12	100301549	100301549	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100301549G>A	uc001tia.1	+	c.8027G>A	c.(8026-8028)CGG>CAG	p.R2676Q		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2676					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4														0.232558	165.908907	185.614394	70	231	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100301549	100301549	17664	12	G	A	A	39	39	UTP20	A	1	1
SPIC	121599	broad.mit.edu	36	12	100395484	100395484	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100395484C>T	uc001tid.1	+	c.21C>T	c.(19-21)GAC>GAT	p.D7D	SPIC_uc001tie.1_Silent_p.D7D|SPIC_uc009zua.1_5'UTR	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	7						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.12963	30.335833	59.199625	28	188	CC		KEEP	---	---	---	---	capture			Silent	SNP	100395484	100395484	15563	12	C	T	T	17	17	SPIC	T	2	2
CLEC1B	51266	broad.mit.edu	36	12	10042155	10042155	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10042155C>T	uc001qwu.1	-	c.156G>A	c.(154-156)GGG>GGA	p.G52G	CLEC1B_uc009zhd.1_Intron	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	52	Helical; Signal-anchor for type II membrane protein; (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0														0.37037	290.274264	294.695247	110	187	CC		KEEP	---	---	---	---	capture			Silent	SNP	10042155	10042155	3643	12	C	T	T	30	30	CLEC1B	T	2	2
MYBPC1	4604	broad.mit.edu	36	12	100549992	100549992	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100549992C>T	uc001tih.1	+	c.501C>T	c.(499-501)TGC>TGT	p.C167C	MYBPC1_uc001tif.1_Silent_p.C155C|MYBPC1_uc001tig.1_Silent_p.C167C|MYBPC1_uc001tii.1_Silent_p.C142C|MYBPC1_uc001tij.1_Silent_p.C142C|MYBPC1_uc001tik.1_Silent_p.C116C	NM_002465	NP_002456	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 1	142	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)	3														0.176471	69.38691	91.195001	39	182	CC		KEEP	---	---	---	---	capture			Silent	SNP	100549992	100549992	10406	12	C	T	T	27	27	MYBPC1	T	1	1
MYBPC1	4604	broad.mit.edu	36	12	100560489	100560489	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100560489G>A	uc001tih.1	+	c.827G>A	c.(826-828)AGC>AAC	p.S276N	MYBPC1_uc001tif.1_Missense_Mutation_p.S264N|MYBPC1_uc001tig.1_Missense_Mutation_p.S276N|MYBPC1_uc001tii.1_Missense_Mutation_p.S251N|MYBPC1_uc001tij.1_Missense_Mutation_p.S251N|MYBPC1_uc001tik.1_Missense_Mutation_p.S225N	NM_002465	NP_002456	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 1	251	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)	3														0.421053	21.39544	21.49902	8	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100560489	100560489	10406	12	G	A	A	34	34	MYBPC1	A	2	2
MYBPC1	4604	broad.mit.edu	36	12	100591416	100591416	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100591416G>T	uc001tih.1	+	c.2694G>T	c.(2692-2694)GAG>GAT	p.E898D	MYBPC1_uc001tig.1_Missense_Mutation_p.E898D|MYBPC1_uc001tii.1_Missense_Mutation_p.E891D|MYBPC1_uc001tij.1_Missense_Mutation_p.E873D|MYBPC1_uc001tik.1_Missense_Mutation_p.E847D|MYBPC1_uc001til.1_5'UTR|MYBPC1_uc001tim.1_5'UTR	NM_002465	NP_002456	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 1	891	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)	3														0.228029	193.240253	221.855909	96	325	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100591416	100591416	10406	12	G	T	T	33	33	MYBPC1	T	3	3
SYCP3	50511	broad.mit.edu	36	12	100654968	100654968	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100654968C>A	uc001tiq.1	-	c.213G>T	c.(211-213)CAG>CAT	p.Q71H	SYCP3_uc001tir.1_Missense_Mutation_p.Q71H|SYCP3_uc001tis.1_Missense_Mutation_p.Q71H	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	71					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0														0.130769	17.974294	35.22717	17	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100654968	100654968	15955	12	C	A	A	32	32	SYCP3	A	3	3
GNPTAB	79158	broad.mit.edu	36	12	100671311	100671311	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100671311C>T	uc001tit.1	-	c.3572G>A	c.(3571-3573)CGT>CAT	p.R1191H		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1191					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)	1														0.209581	70.62824	83.671201	35	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100671311	100671311	6814	12	C	T	T	19	19	GNPTAB	T	1	1
GNPTAB	79158	broad.mit.edu	36	12	100688028	100688028	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100688028C>T	uc001tit.1	-	c.1186G>A	c.(1186-1188)GAA>AAA	p.E396K	GNPTAB_uc001tiu.1_Missense_Mutation_p.E396K	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	396					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)	1														0.458084	438.326044	438.838195	153	181	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100688028	100688028	6814	12	C	T	T	31	31	GNPTAB	T	1	1
DRAM1	55332	broad.mit.edu	36	12	100819205	100819205	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100819205G>T	uc001tix.1	+	c.205G>T	c.(205-207)GCC>TCC	p.A69S		NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	damage-regulated autophagy modulator	69	Helical; (Potential).				apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1														0.447368	141.60108	141.877446	51	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100819205	100819205	4937	12	G	T	T	34	34	DRAM1	T	3	3
NUP37	79023	broad.mit.edu	36	12	100995276	100995276	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100995276C>T	uc001tjc.1	-	c.676G>A	c.(676-678)GCC>ACC	p.A226T	NUP37_uc009zub.1_Missense_Mutation_p.A226T	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	226					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1														0.242063	139.836192	155.138617	61	191	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100995276	100995276	11169	12	C	T	T	28	28	NUP37	T	2	2
C12orf48	55010	broad.mit.edu	36	12	101113239	101113239	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:101113239G>T	uc001tjg.1	+	c.1040G>T	c.(1039-1041)AGA>ATA	p.R347I	C12orf48_uc001tjh.1_Missense_Mutation_p.R347I|C12orf48_uc009zuc.1_Intron|C12orf48_uc001tjj.1_Missense_Mutation_p.R143I|C12orf48_uc001tjk.1_Intron|C12orf48_uc009zud.1_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	428					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0														0.40146	295.17405	297.506078	110	164	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101113239	101113239	1736	12	G	T	T	33	33	C12orf48	T	3	3
CLEC1A	51267	broad.mit.edu	36	12	10125260	10125260	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10125260G>A	uc001qxb.1	-	c.234C>T	c.(232-234)CTC>CTT	p.L78L	CLEC1A_uc009zhf.1_5'UTR|CLEC1A_uc001qxc.1_5'UTR|CLEC1A_uc001qxd.1_Silent_p.L35L	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	78	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2														0.191083	60.247594	74.260325	30	127	GG		KEEP	---	---	---	---	capture			Silent	SNP	10125260	10125260	3642	12	G	A	A	33	33	CLEC1A	A	2	2
OLR1	4973	broad.mit.edu	36	12	10203871	10203871	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10203871C>T	uc001qxo.1	-	c.697G>A	c.(697-699)GCT>ACT	p.A233T		NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	233	Extracellular (Potential).|C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1														0.372024	328.343495	333.192816	125	211	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10203871	10203871	11268	12	C	T	T	27	27	OLR1	T	1	1
OLR1	4973	broad.mit.edu	36	12	10204708	10204708	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10204708C>A	uc001qxo.1	-	c.508G>T	c.(508-510)GAG>TAG	p.E170*		NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	170	Extracellular (Potential).|C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1														0.44	538.244792	539.662911	198	252	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	10204708	10204708	11268	12	C	A	A	32	32	OLR1	A	5	3
OLR1	4973	broad.mit.edu	36	12	10210792	10210792	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10210792C>T	uc001qxo.1	-	c.210G>A	c.(208-210)GAG>GAA	p.E70E		NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	70	Extracellular (Potential).|Neck.|Potential.			E->K: Abolishes sorting into the cell surface; when associated with 22-E--E-25.	blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1														0.483146	394.451229	394.517717	129	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	10210792	10210792	11268	12	C	T	T	28	28	OLR1	T	2	2
C12orf59	120939	broad.mit.edu	36	12	10233960	10233960	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10233960C>A	uc001qxq.1	+	c.446C>A	c.(445-447)CCT>CAT	p.P149H	C12orf59_uc001qxr.1_Missense_Mutation_p.P169H	NM_153022	NP_694567	Q4KMG9	CL059_HUMAN	hypothetical protein LOC120939	169						integral to membrane				ovary(1)	1														0.236364	55.988714	62.983812	26	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10233960	10233960	1746	12	C	A	A	24	24	C12orf59	A	3	3
STAB2	55576	broad.mit.edu	36	12	102588627	102588627	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:102588627C>T	uc001tjw.1	+	c.2283C>T	c.(2281-2283)AAC>AAT	p.N761N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	761	Extracellular (Potential).|EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.174419	24.279414	32.879942	15	71	CC		KEEP	---	---	---	---	capture			Silent	SNP	102588627	102588627	15756	12	C	T	T	19	19	STAB2	T	1	1
GABARAPL1	23710	broad.mit.edu	36	12	10262009	10262009	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10262009T>C	uc001qxs.1	+	c.169_splice	c.e2+2	p.V57_splice	GABARAPL1_uc001qxt.1_Splice_Site_SNP|GABARAPL1_uc001qxu.1_Splice_Site_SNP	NM_031412	NP_113600			GABA(A) receptor-associated protein like 1							autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						Melanoma(3;46 76 4652 22680 42285)								0.503145	284.522196	284.523808	80	79	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	10262009	10262009	6404	12	T	C	C	57	57	GABARAPL1	C	5	4
STAB2	55576	broad.mit.edu	36	12	102624840	102624840	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:102624840C>T	uc001tjw.1	+	c.4137C>T	c.(4135-4137)AGC>AGT	p.S1379S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1379	Extracellular (Potential).|Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.177966	34.246259	45.742187	21	97	CC		KEEP	---	---	---	---	capture			Silent	SNP	102624840	102624840	15756	12	C	T	T	27	27	STAB2	T	1	1
STAB2	55576	broad.mit.edu	36	12	102655618	102655618	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:102655618G>A	uc001tjw.1	+	c.5627G>A	c.(5626-5628)GGC>GAC	p.G1876D	STAB2_uc009zug.1_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1876	Extracellular (Potential).|FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.236287	123.472647	138.551978	56	181	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102655618	102655618	15756	12	G	A	A	42	42	STAB2	A	2	2
STAB2	55576	broad.mit.edu	36	12	102677148	102677148	+	Silent	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:102677148G>C	uc001tjw.1	+	c.7215G>C	c.(7213-7215)CTG>CTC	p.L2405L	STAB2_uc009zug.1_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2405	Extracellular (Potential).|FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.288732	115.322456	121.001591	41	101	GG		KEEP	---	---	---	---	capture			Silent	SNP	102677148	102677148	15756	12	G	C	C	46	46	STAB2	C	3	3
EID3	493861	broad.mit.edu	36	12	103222419	103222419	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:103222419C>T	uc001tkw.1	+	c.577C>T	c.(577-579)CGC>TGC	p.R193C	TXNRD1_uc001tkn.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkq.1_Intron|TXNRD1_uc001tkr.1_Intron|TXNRD1_uc001tks.1_Intron|TXNRD1_uc001tkt.1_Intron|TXNRD1_uc001tku.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0														0.482609	317.512483	317.572565	111	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103222419	103222419	5178	12	C	T	T	31	31	EID3	T	1	1
CHST11	50515	broad.mit.edu	36	12	103675352	103675352	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:103675352G>A	uc001tkx.1	+	c.700G>A	c.(700-702)GAT>AAT	p.D234N	CHST11_uc001tky.2_Missense_Mutation_p.D229N	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase	234	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0														0.429379	210.570971	211.340253	76	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103675352	103675352	3533	12	G	A	A	37	37	CHST11	A	1	1
ALDH1L2	160428	broad.mit.edu	36	12	103964865	103964865	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:103964865G>T	uc001tlc.1	-	c.1699C>A	c.(1699-1701)CCA>ACA	p.P567T	ALDH1L2_uc009zuo.1_Missense_Mutation_p.P22T|ALDH1L2_uc009zup.1_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	567	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process|oxidation-reduction process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding				0														0.452915	539.567864	540.42927	202	244	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103964865	103964865	498	12	G	T	T	41	41	ALDH1L2	T	3	3
KIAA1033	23325	broad.mit.edu	36	12	104062300	104062300	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:104062300G>T	uc001tld.1	+	c.2116G>T	c.(2116-2118)GAC>TAC	p.D706Y	KIAA1033_uc001tle.1_Missense_Mutation_p.D518Y	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	706					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2														0.191083	108.692314	136.725039	60	254	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104062300	104062300	8513	12	G	T	T	33	33	KIAA1033	T	3	3
KIAA1033	23325	broad.mit.edu	36	12	104065010	104065010	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:104065010G>A	uc001tld.1	+	c.2470G>A	c.(2470-2472)GCT>ACT	p.A824T	KIAA1033_uc001tle.1_Missense_Mutation_p.A636T	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	824					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2														0.261364	104.761087	113.839138	46	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104065010	104065010	8513	12	G	A	A	46	46	KIAA1033	A	2	2
KIAA1033	23325	broad.mit.edu	36	12	104075211	104075211	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:104075211G>T	uc001tld.1	+	c.2893G>T	c.(2893-2895)GAA>TAA	p.E965*	KIAA1033_uc001tle.1_Nonsense_Mutation_p.E777*	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	965					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2														0.212598	51.236824	60.953015	27	100	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	104075211	104075211	8513	12	G	T	T	33	33	KIAA1033	T	5	3
KLRC3	3823	broad.mit.edu	36	12	10464271	10464271	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10464271G>T	uc001qyi.1	-	c.146C>A	c.(145-147)TCT>TAT	p.S49Y	KLRC3_uc001qyf.1_Missense_Mutation_p.S49Y|KLRC3_uc001qyg.1_Missense_Mutation_p.S49Y|KLRC3_uc001qyh.1_Intron|KLRC3_uc001qyj.1_Missense_Mutation_p.S49Y|KLRC3_uc009zhl.1_Missense_Mutation_p.S49Y	NM_007333	NP_031359	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C,	49	Cytoplasmic (Potential).				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)	2														0.147493	67.21471	107.6973	50	289	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10464271	10464271	8731	12	G	T	T	33	33	KLRC3	T	3	3
TCP11L2	255394	broad.mit.edu	36	12	105232317	105232317	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:105232317G>T	uc001tln.1	+	c.209G>T	c.(208-210)AGG>ATG	p.R70M	TCP11L2_uc001tll.2_Missense_Mutation_p.R70M|TCP11L2_uc001tlm.1_Missense_Mutation_p.R70M	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	70										ovary(2)	2														0.241525	127.043378	141.438406	57	179	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105232317	105232317	16241	12	G	T	T	35	35	TCP11L2	T	3	3
TCP11L2	255394	broad.mit.edu	36	12	105254031	105254031	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:105254031A>G	uc001tln.1	+	c.1052A>G	c.(1051-1053)AAC>AGC	p.N351S		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	351										ovary(2)	2														0.433566	212.039603	212.587761	62	81	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105254031	105254031	16241	12	A	G	G	2	2	TCP11L2	G	4	4
TCP11L2	255394	broad.mit.edu	36	12	105264209	105264209	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:105264209T>G	uc001tln.1	+	c.1331T>G	c.(1330-1332)CTT>CGT	p.L444R		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	444										ovary(2)	2														0.365385	109.819827	111.478292	38	66	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105264209	105264209	16241	12	T	G	G	56	56	TCP11L2	G	4	4
POLR3B	55703	broad.mit.edu	36	12	105294329	105294329	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:105294329C>T	uc001tlp.1	+	c.467C>T	c.(466-468)GCC>GTC	p.A156V	POLR3B_uc001tlq.1_Missense_Mutation_p.A98V	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	156					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														0.463158	258.062804	258.288894	88	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105294329	105294329	12657	12	C	T	T	26	26	POLR3B	T	2	2
POLR3B	55703	broad.mit.edu	36	12	105414774	105414774	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:105414774C>T	uc001tlp.1	+	c.2932C>T	c.(2932-2934)CGC>TGC	p.R978C	POLR3B_uc001tlq.1_Missense_Mutation_p.R920C	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	978				R -> C (in Ref. 2; BAA91527).	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														0.425806	184.225679	184.9691	66	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105414774	105414774	12657	12	C	T	T	31	31	POLR3B	T	1	1
RFX4	5992	broad.mit.edu	36	12	105650130	105650130	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:105650130C>T	uc001tlt.1	+	c.1471C>T	c.(1471-1473)CGA>TGA	p.R491*	RFX4_uc001tlr.1_Nonsense_Mutation_p.R482*|RFX4_uc001tls.1_Nonsense_Mutation_p.R491*|RFX4_uc001tlv.1_Nonsense_Mutation_p.R388*	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	482	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding				0														0.320346	184.468867	190.730958	74	157	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	105650130	105650130	13737	12	C	T	T	27	27	RFX4	T	5	1
CRY1	1407	broad.mit.edu	36	12	105917888	105917888	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:105917888G>A	uc001tmi.2	-	c.787C>T	c.(787-789)CGA>TGA	p.R263*		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	263	FAD-binding.				circadian rhythm|DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	DNA binding|DNA photolyase activity|G-protein coupled photoreceptor activity|nucleotide binding|protein binding			ovary(3)	3														0.190141	53.041698	65.791609	27	115	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	105917888	105917888	4042	12	G	A	A	37	37	CRY1	A	5	1
BTBD11	121551	broad.mit.edu	36	12	106237108	106237108	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:106237108C>T	uc001tmk.1	+	c.261C>T	c.(259-261)TGC>TGT	p.C87C	BTBD11_uc009zut.1_Silent_p.C87C|BTBD11_uc001tmj.2_Silent_p.C87C	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	87						integral to membrane	DNA binding			ovary(1)	1														0.181818	8.393881	10.480741	4	18	CC		KEEP	---	---	---	---	capture			Silent	SNP	106237108	106237108	1571	12	C	T	T	28	28	BTBD11	T	2	2
BTBD11	121551	broad.mit.edu	36	12	106536239	106536239	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:106536239C>T	uc001tmk.1	+	c.2406C>T	c.(2404-2406)AGC>AGT	p.S802S	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Silent_p.S802S|BTBD11_uc001tml.1_Silent_p.S339S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	802						integral to membrane	DNA binding			ovary(1)	1														0.175439	17.215304	22.879073	10	47	CC		KEEP	---	---	---	---	capture			Silent	SNP	106536239	106536239	1571	12	C	T	T	27	27	BTBD11	T	1	1
BTBD11	121551	broad.mit.edu	36	12	106558229	106558229	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:106558229C>A	uc001tmk.1	+	c.2749C>A	c.(2749-2751)CTT>ATT	p.L917I	BTBD11_uc001tmj.2_Missense_Mutation_p.L917I|BTBD11_uc001tml.1_Missense_Mutation_p.L454I|BTBD11_uc001tmm.1_5'UTR	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	917						integral to membrane	DNA binding			ovary(1)	1														0.234286	86.172011	97.490264	41	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106558229	106558229	1571	12	C	A	A	32	32	BTBD11	A	3	3
BTBD11	121551	broad.mit.edu	36	12	106575600	106575600	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:106575600C>T	uc001tmk.1	+	c.3290C>T	c.(3289-3291)TCG>TTG	p.S1097L	BTBD11_uc001tml.1_Missense_Mutation_p.S634L|BTBD11_uc001tmm.1_Missense_Mutation_p.S176L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	1097						integral to membrane	DNA binding			ovary(1)	1														0.483607	168.612119	168.640823	59	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106575600	106575600	1571	12	C	T	T	31	31	BTBD11	T	1	1
PWP1	11137	broad.mit.edu	36	12	106606590	106606590	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:106606590G>A	uc001tmo.1	+	c.200G>A	c.(199-201)CGC>CAC	p.R67H	PWP1_uc001tmn.1_Non-coding_Transcript|PWP1_uc009zuu.1_Missense_Mutation_p.R67H	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	67					transcription, DNA-dependent	nucleus					0														0.490741	145.958741	145.967044	53	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106606590	106606590	13301	12	G	A	A	38	38	PWP1	A	1	1
STYK1	55359	broad.mit.edu	36	12	10665768	10665768	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10665768C>A	uc001qys.1	-	c.1038G>T	c.(1036-1038)AAG>AAT	p.K346N		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	346	Protein kinase.				protein phosphorylation	integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(1)	6										211				0.366154	303.713768	308.842696	119	206	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10665768	10665768	15879	12	C	A	A	32	32	STYK1	A	3	3
PRDM4	11108	broad.mit.edu	36	12	106678412	106678412	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:106678412C>T	uc001tmp.1	-	c.11G>A	c.(10-12)AGG>AAG	p.R4K	PRDM4_uc001tmq.1_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	4					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|zinc ion binding			breast(1)	1														0.388889	103.861867	104.815232	35	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106678412	106678412	12901	12	C	T	T	24	24	PRDM4	T	2	2
ASCL4	121549	broad.mit.edu	36	12	106693326	106693326	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:106693326C>T	uc001tmr.1	+	c.201C>T	c.(199-201)AGC>AGT	p.S67S		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	67					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding|RNA polymerase II transcription factor activity			central_nervous_system(1)	1						GBM(170;776 3695 11650)								0.222222	8.191116	9.468717	4	14	CC		KEEP	---	---	---	---	capture			Silent	SNP	106693326	106693326	1055	12	C	T	T	27	27	ASCL4	T	1	1
CMKLR1	1240	broad.mit.edu	36	12	107210602	107210602	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107210602C>T	uc001tmv.1	-	c.262G>A	c.(262-264)GTC>ATC	p.V88I	CMKLR1_uc001tmw.1_Missense_Mutation_p.V88I|CMKLR1_uc009zuv.1_Missense_Mutation_p.V88I|CMKLR1_uc009zuw.1_Missense_Mutation_p.V88I	NM_004072	NP_004063	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform b	90	Helical; Name=2; (Potential).				chemotaxis|immune response|positive regulation of macrophage chemotaxis|skeletal system development	integral to plasma membrane	chemokine receptor activity			ovary(1)	1														0.480769	202.033996	202.082121	75	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107210602	107210602	3717	12	C	T	T	19	19	CMKLR1	T	1	1
SART3	9733	broad.mit.edu	36	12	107450138	107450138	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107450138C>A	uc001tmz.1	-	c.1659G>T	c.(1657-1659)GAG>GAT	p.E553D	SART3_uc009zux.1_Missense_Mutation_p.E165D|SART3_uc001tna.1_Non-coding_Transcript|SART3_uc001tmy.1_Missense_Mutation_p.E79D	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	553					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1														0.188571	56.955901	72.860787	33	142	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107450138	107450138	14328	12	C	A	A	32	32	SART3	A	3	3
CSDA	8531	broad.mit.edu	36	12	10745980	10745980	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10745980C>T	uc001qyt.1	-	c.899G>A	c.(898-900)CGA>CAA	p.R300Q	CSDA_uc001qyu.1_Missense_Mutation_p.R231Q	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A	300					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)|ovary(1)	2	Glioma(1;0.155)													0.438272	198.11276	198.647705	71	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10745980	10745980	4068	12	C	T	T	31	31	CSDA	T	1	1
SELPLG	6404	broad.mit.edu	36	12	107541847	107541847	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107541847C>A	uc001tni.2	-	c.366G>T	c.(364-366)CAG>CAT	p.Q122H	SELPLG_uc001tnh.1_Missense_Mutation_p.Q122H	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	122	1.|Extracellular (Potential).|12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0														0.426316	210.48546	211.395667	81	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107541847	107541847	14506	12	C	A	A	32	32	SELPLG	A	3	3
DAO	1610	broad.mit.edu	36	12	107807394	107807394	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107807394A>C	uc001tnr.2	+	c.330A>C	c.(328-330)ACA>ACC	p.T110T	DAO_uc001tnq.2_Intron|DAO_uc009zvb.1_Non-coding_Transcript|DAO_uc001tns.2_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	110					glyoxylate metabolic process|oxidation-reduction process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2														0.455621	252.46207	252.750976	77	92	AA		KEEP	---	---	---	---	capture			Silent	SNP	107807394	107807394	4398	12	A	C	C	7	7	DAO	C	4	4
ALKBH2	121642	broad.mit.edu	36	12	108014976	108014976	+	De_novo_Start_InFrame	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108014976C>A	uc001tnx.1	-	c.-1G>T	c.(-3-1)CAGGA>CATGA		ALKBH2_uc009zvd.1_Splice_Site_SNP|ALKBH2_uc001tny.1_Splice_Site_SNP|ALKBH2_uc009zve.1_De_novo_Start_InFrame	NM_001001655	NP_001001655			AlkB homolog 2						DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)									0.185053	92.709774	118.873371	52	229	CC		KEEP	---	---	---	---	capture			De_novo_Start_InFrame	SNP	108014976	108014976	530	12	C	A	A	24	24	ALKBH2	A	5	3
ACACB	32	broad.mit.edu	36	12	108061818	108061818	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108061818G>A	uc001tob.1	+	c.225G>A	c.(223-225)GAG>GAA	p.E75E	ACACB_uc001toc.1_Silent_p.E75E	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	75					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.430894	293.218179	294.238864	106	140	GG		KEEP	---	---	---	---	capture			Silent	SNP	108061818	108061818	108	12	G	A	A	34	34	ACACB	A	2	2
ACACB	32	broad.mit.edu	36	12	108114094	108114094	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108114094G>A	uc001tob.1	+	c.2355G>A	c.(2353-2355)GCG>GCA	p.A785A	ACACB_uc001toc.1_Silent_p.A785A	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	785					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)				p.A785A(ESS1-Tumor)	1843				0.155963	25.701117	38.02689	17	92	GG		KEEP	---	---	---	---	capture			Silent	SNP	108114094	108114094	108	12	G	A	A	37	37	ACACB	A	1	1
ACACB	32	broad.mit.edu	36	12	108154917	108154917	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108154917C>A	uc001tob.1	+	c.4062C>A	c.(4060-4062)TTC>TTA	p.F1354L	ACACB_uc001toc.1_Missense_Mutation_p.F1354L|ACACB_uc001tod.1_Non-coding_Transcript	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1354					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.403101	134.957755	136.020903	52	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108154917	108154917	108	12	C	A	A	29	29	ACACB	A	3	3
ACACB	32	broad.mit.edu	36	12	108154980	108154980	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108154980C>T	uc001tob.1	+	c.4125C>T	c.(4123-4125)TTC>TTT	p.F1375F	ACACB_uc001toc.1_Silent_p.F1375F|ACACB_uc001tod.1_Non-coding_Transcript	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1375					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.398058	108.436205	109.377001	41	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	108154980	108154980	108	12	C	T	T	31	31	ACACB	T	1	1
ACACB	32	broad.mit.edu	36	12	108163268	108163268	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108163268C>T	uc001tob.1	+	c.4821C>T	c.(4819-4821)ATC>ATT	p.I1607I	ACACB_uc001toc.1_Silent_p.I1607I|ACACB_uc001tod.1_Non-coding_Transcript	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1607					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.443787	210.493158	210.959617	75	94	CC		KEEP	---	---	---	---	capture			Silent	SNP	108163268	108163268	108	12	C	T	T	31	31	ACACB	T	1	1
ACACB	32	broad.mit.edu	36	12	108168458	108168458	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108168458G>A	uc001tob.1	+	c.5393G>A	c.(5392-5394)CGC>CAC	p.R1798H	ACACB_uc001toc.1_Missense_Mutation_p.R1798H|ACACB_uc001tod.1_Non-coding_Transcript	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1798					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.412429	198.336575	199.522861	73	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108168458	108168458	108	12	G	A	A	38	38	ACACB	A	1	1
ACACB	32	broad.mit.edu	36	12	108188436	108188436	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108188436A>C	uc001tob.1	+	c.7263A>C	c.(7261-7263)GAA>GAC	p.E2421D	ACACB_uc001toc.1_Missense_Mutation_p.E2421D|ACACB_uc001tod.1_Non-coding_Transcript	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2421					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.409091	109.285354	109.919925	36	52	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108188436	108188436	108	12	A	C	C	1	1	ACACB	C	4	4
FOXN4	121643	broad.mit.edu	36	12	108203673	108203673	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108203673C>T	uc001toe.2	-	c.1216G>A	c.(1216-1218)GAC>AAC	p.D406N	FOXN4_uc009zvf.1_Missense_Mutation_p.D226N|FOXN4_uc009zvg.1_Missense_Mutation_p.D203N|FOXN4_uc001tof.2_Missense_Mutation_p.D226N	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	406					axon extension|embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|positive regulation of gene-specific transcription|regulation of heart contraction|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 enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2														0.283019	76.197484	80.68551	30	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108203673	108203673	6268	12	C	T	T	32	32	FOXN4	T	2	2
MYO1H	283446	broad.mit.edu	36	12	108311009	108311009	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108311009C>T	uc009zvh.1	+	c.103C>T	c.(103-105)CGT>TGT	p.R35C		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.439523	702.655346	704.52505	258	329	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108311009	108311009	10470	12	C	T	T	27	27	MYO1H	T	1	1
MYO1H	283446	broad.mit.edu	36	12	108358701	108358701	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108358701A>G	uc009zvh.1	+	c.2148A>G	c.(2146-2148)AAA>AAG	p.K716K		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.44	36.92126	36.999676	11	14	AA		KEEP	---	---	---	---	capture			Silent	SNP	108358701	108358701	10470	12	A	G	G	2	2	MYO1H	G	4	4
KCTD10	83892	broad.mit.edu	36	12	108373981	108373981	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108373981C>A	uc001toj.1	-	c.771G>T	c.(769-771)CGG>CGT	p.R257R	KCTD10_uc001toi.1_Silent_p.R248R|KCTD10_uc001tok.1_Silent_p.R67R|KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Silent_p.R222R	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	248					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0														0.209877	32.423537	38.740334	17	64	CC		KEEP	---	---	---	---	capture			Silent	SNP	108373981	108373981	8403	12	C	A	A	30	30	KCTD10	A	3	3
TAS2R8	50836	broad.mit.edu	36	12	10850227	10850227	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10850227G>T	uc001qyw.1	-	c.620C>A	c.(619-621)TCT>TAT	p.S207Y		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	207	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			ovary(2)	2														0.209184	78.148042	93.513891	41	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10850227	10850227	16109	12	G	T	T	33	33	TAS2R8	T	3	3
TAS2R10	50839	broad.mit.edu	36	12	10869405	10869405	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10869405G>A	uc001qyy.1	-	c.731C>T	c.(730-732)GCC>GTC	p.A244V		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	244	Helical; Name=6; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity				0														0.21978	128.446575	148.198779	60	213	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10869405	10869405	16088	12	G	A	A	42	42	TAS2R10	A	2	2
TRPV4	59341	broad.mit.edu	36	12	108710639	108710639	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108710639G>A	uc001tpj.1	-	c.2157C>T	c.(2155-2157)GGC>GGT	p.G719G	TRPV4_uc001tpg.1_Silent_p.G685G|TRPV4_uc001tph.1_Silent_p.G672G|TRPV4_uc001tpi.1_Silent_p.G612G|TRPV4_uc001tpk.1_Silent_p.G719G|TRPV4_uc001tpl.1_Silent_p.G659G	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	719	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)	2														0.459854	174.446376	174.632672	63	74	GG		KEEP	---	---	---	---	capture			Silent	SNP	108710639	108710639	17149	12	G	A	A	38	38	TRPV4	A	1	1
TRPV4	59341	broad.mit.edu	36	12	108716560	108716560	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108716560A>G	uc001tpj.1	-	c.1448T>C	c.(1447-1449)GTC>GCC	p.V483A	TRPV4_uc001tpg.1_Missense_Mutation_p.V449A|TRPV4_uc001tph.1_Missense_Mutation_p.V436A|TRPV4_uc001tpi.1_Missense_Mutation_p.V376A|TRPV4_uc001tpk.1_Missense_Mutation_p.V483A|TRPV4_uc001tpl.1_Missense_Mutation_p.V423A	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	483	Helical; (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)	2														0.186441	74.083793	90.537153	33	144	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108716560	108716560	17149	12	A	G	G	10	10	TRPV4	G	4	4
GIT2	9815	broad.mit.edu	36	12	108855298	108855298	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108855298C>A	uc001tps.1	-	c.2148G>T	c.(2146-2148)AAG>AAT	p.K716N	TCHP_uc001tpo.1_Intron|GIT2_uc001tpq.1_Missense_Mutation_p.K256N|GIT2_uc001tpr.1_3'UTR|GIT2_uc001tpt.1_Missense_Mutation_p.K588N|GIT2_uc001tpu.1_Missense_Mutation_p.K636N|GIT2_uc001tpv.1_Missense_Mutation_p.K638N	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	716					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1														0.232143	26.243307	29.926532	13	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108855298	108855298	6665	12	C	A	A	32	32	GIT2	A	3	3
GIT2	9815	broad.mit.edu	36	12	108911200	108911200	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108911200C>T	uc001tps.1	-	c.356G>A	c.(355-357)CGC>CAC	p.R119H	GIT2_uc001tpt.1_Missense_Mutation_p.R119H|GIT2_uc001tpu.1_Missense_Mutation_p.R119H|GIT2_uc001tpv.1_Missense_Mutation_p.R119H|GIT2_uc001tpw.1_Missense_Mutation_p.R119H	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	119	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1														0.416667	422.085262	424.393809	160	224	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108911200	108911200	6665	12	C	T	T	27	27	GIT2	T	1	1
ANKRD13A	88455	broad.mit.edu	36	12	108951783	108951783	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108951783C>T	uc001tpx.1	+	c.1194C>T	c.(1192-1194)TTC>TTT	p.F398F	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc001tpy.1_Silent_p.F36F|ANKRD13A_uc001tpz.1_Silent_p.F36F|ANKRD13A_uc001tqa.1_Silent_p.F36F	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	398											0														0.19598	72.697793	89.856669	39	160	CC		KEEP	---	---	---	---	capture			Silent	SNP	108951783	108951783	644	12	C	T	T	29	29	ANKRD13A	T	2	2
IFT81	28981	broad.mit.edu	36	12	109126073	109126073	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109126073G>T	uc001tqh.1	+	c.1579G>T	c.(1579-1581)GAA>TAA	p.E527*	IFT81_uc001tqi.1_Nonsense_Mutation_p.E527*|IFT81_uc001tqj.1_Non-coding_Transcript	NM_014055	NP_054774	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	527	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1														0.213018	67.695389	80.571926	36	133	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	109126073	109126073	7866	12	G	T	T	45	45	IFT81	T	5	3
ATP2A2	488	broad.mit.edu	36	12	109218811	109218811	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109218811G>A	uc001tqk.2	+	c.349G>A	c.(349-351)GAA>AAA	p.E117K	ATP2A2_uc001tql.2_Missense_Mutation_p.E117K	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	117	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)	3														0.189369	110.189591	137.370059	57	244	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109218811	109218811	1156	12	G	A	A	37	37	ATP2A2	A	1	1
ATP2A2	488	broad.mit.edu	36	12	109248663	109248663	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109248663T>G	uc001tqk.2	+	c.630T>G	c.(628-630)TCT>TCG	p.S210S	ATP2A2_uc001tql.2_Silent_p.S210S	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	210	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)	3														0.489362	78.025861	78.0304	23	24	TT		KEEP	---	---	---	---	capture			Silent	SNP	109248663	109248663	1156	12	T	G	G	55	55	ATP2A2	G	4	4
ATP2A2	488	broad.mit.edu	36	12	109261860	109261860	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109261860G>T	uc001tqk.2	+	c.1712G>T	c.(1711-1713)AGA>ATA	p.R571I	ATP2A2_uc001tql.2_Missense_Mutation_p.R571I	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	571	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)	3														0.186567	43.983911	56.331625	25	109	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109261860	109261860	1156	12	G	T	T	33	33	ATP2A2	T	3	3
RAD9B	144715	broad.mit.edu	36	12	109434966	109434966	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109434966G>T	uc001trf.2	+	c.389_splice	c.e5-1	p.G130_splice	RAD9B_uc001trg.2_Splice_Site_SNP_p.G130_splice|RAD9B_uc001trd.2_Splice_Site_SNP|RAD9B_uc001tre.2_Splice_Site_SNP_p.G58_splice|RAD9B_uc009zvq.1_5'Flank	NM_152442	NP_689655			RAD9 homolog B						cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			pancreas(1)|skin(1)	2												OREG0022115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.533333	22.899039	22.913386	8	7	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	109434966	109434966	13456	12	G	T	T	35	35	RAD9B	T	5	3
PPP1CC	5501	broad.mit.edu	36	12	109652814	109652814	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109652814T>C	uc001tru.1	-	c.321A>G	c.(319-321)TTA>TTG	p.L107L		NM_002710	NP_002701	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma	107					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)	1														0.439462	329.943772	330.651281	98	125	TT		KEEP	---	---	---	---	capture			Silent	SNP	109652814	109652814	12786	12	T	C	C	57	57	PPP1CC	C	4	4
CCDC63	160762	broad.mit.edu	36	12	109780884	109780884	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109780884A>C	uc001trv.1	+	c.291A>C	c.(289-291)CGA>CGC	p.R97R	CCDC63_uc009zvt.1_Silent_p.R12R|CCDC63_uc001trw.1_Silent_p.R12R	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	97	Potential.									ovary(1)|pancreas(1)	2														0.276119	110.82789	116.867073	37	97	AA		KEEP	---	---	---	---	capture			Silent	SNP	109780884	109780884	2957	12	A	C	C	10	10	CCDC63	C	4	4
CCDC63	160762	broad.mit.edu	36	12	109806242	109806242	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109806242G>T	uc001trv.1	+	c.879G>T	c.(877-879)AAG>AAT	p.K293N	CCDC63_uc001trw.1_Missense_Mutation_p.K208N	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	293										ovary(1)|pancreas(1)	2														0.188272	105.654022	135.161968	61	263	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109806242	109806242	2957	12	G	T	T	33	33	CCDC63	T	3	3
TAS2R14	50840	broad.mit.edu	36	12	10982661	10982661	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10982661G>A	uc001qzk.1	-	c.413C>T	c.(412-414)TCG>TTG	p.S138L	PRR4_uc009zhp.1_Intron|PRH1_uc001qzb.2_Intron|PRH1_uc001qzc.2_Intron|PRH1_uc001qze.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	138	Helical; Name=4; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	integral to membrane	bitter taste receptor activity				0														0.212121	58.828737	68.941789	28	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10982661	10982661	16090	12	G	A	A	37	37	TAS2R14	A	1	1
TAS2R14	50840	broad.mit.edu	36	12	10982913	10982913	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10982913G>A	uc001qzk.1	-	c.161C>T	c.(160-162)TCT>TTT	p.S54F	PRR4_uc009zhp.1_Intron|PRH1_uc001qzb.2_Intron|PRH1_uc001qzc.2_Intron|PRH1_uc001qze.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	54	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	integral to membrane	bitter taste receptor activity				0														0.483871	183.888866	183.917191	60	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10982913	10982913	16090	12	G	A	A	33	33	TAS2R14	A	2	2
MYL2	4633	broad.mit.edu	36	12	109836427	109836427	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109836427G>A	uc001try.2	-	c.220C>T	c.(220-222)CCG>TCG	p.P74S	MYL2_uc001trx.2_Missense_Mutation_p.P55S	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	74					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|motor activity|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						GBM(14;268 426 18829 21617 25540)								0.422078	185.650787	186.465775	65	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109836427	109836427	10442	12	G	A	A	41	41	MYL2	A	2	2
MYL2	4633	broad.mit.edu	36	12	109841330	109841330	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109841330G>T	uc001try.2	-	c.54C>A	c.(52-54)TTC>TTA	p.F18L	MYL2_uc001trx.2_5'UTR	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	18					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|motor activity|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						GBM(14;268 426 18829 21617 25540)								0.403846	110.517315	111.361047	42	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109841330	109841330	10442	12	G	T	T	33	33	MYL2	T	3	3
CUX2	23316	broad.mit.edu	36	12	110232471	110232471	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110232471C>T	uc001tsa.1	+	c.1502C>T	c.(1501-1503)GCG>GTG	p.A501V		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	501	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4														0.235294	8.002164	9.08462	4	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110232471	110232471	4225	12	C	T	T	27	27	CUX2	T	1	1
CUX2	23316	broad.mit.edu	36	12	110256821	110256821	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110256821C>T	uc001tsa.1	+	c.3120C>T	c.(3118-3120)ATC>ATT	p.I1040I		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1040	CUT 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4														0.454545	139.135767	139.333498	50	60	CC		KEEP	---	---	---	---	capture			Silent	SNP	110256821	110256821	4225	12	C	T	T	31	31	CUX2	T	1	1
CUX2	23316	broad.mit.edu	36	12	110263978	110263978	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110263978C>T	uc001tsa.1	+	c.3397C>T	c.(3397-3399)CGT>TGT	p.R1133C		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1133						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4														0.191882	92.846744	116.891725	52	219	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110263978	110263978	4225	12	C	T	T	19	19	CUX2	T	1	1
ATXN2	6311	broad.mit.edu	36	12	110392868	110392868	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110392868C>T	uc001tsj.1	-	c.3060G>A	c.(3058-3060)GCG>GCA	p.A1020A	ATXN2_uc001tsh.1_Silent_p.A755A|ATXN2_uc001tsi.1_Silent_p.A731A|ATXN2_uc001tsk.1_Non-coding_Transcript|ATXN2_uc001tsg.1_Silent_p.A208A|ATXN2_uc001tsl.1_Silent_p.A39A	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1020	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2														0.217391	59.275994	69.445427	30	108	CC		KEEP	---	---	---	---	capture			Silent	SNP	110392868	110392868	1231	12	C	T	T	19	19	ATXN2	T	1	1
TAS2R20	259295	broad.mit.edu	36	12	11040929	11040929	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:11040929A>G	uc001qzm.2	-	c.813T>C	c.(811-813)TAT>TAC	p.Y271Y	PRR4_uc009zhp.1_Intron|PRH1_uc001qzb.2_Intron|PRH1_uc001qzc.2_Intron|PRH1_uc001qze.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	taste receptor, type 2, member 49	271	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0														0.490654	353.482436	353.498259	105	109	AA		KEEP	---	---	---	---	capture			Silent	SNP	11040929	11040929	16093	12	A	G	G	12	12	TAS2R20	G	4	4
TAS2R20	259295	broad.mit.edu	36	12	11041412	11041412	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:11041412G>A	uc001qzm.2	-	c.330C>T	c.(328-330)ATC>ATT	p.I110I	PRR4_uc009zhp.1_Intron|PRH1_uc001qzb.2_Intron|PRH1_uc001qzc.2_Intron|PRH1_uc001qze.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	taste receptor, type 2, member 49	110	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0														0.391459	300.340362	303.220333	110	171	GG		KEEP	---	---	---	---	capture			Silent	SNP	11041412	11041412	16093	12	G	A	A	37	37	TAS2R20	A	1	1
ACAD10	80724	broad.mit.edu	36	12	110638048	110638048	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110638048T>C	uc009zvx.1	+	c.984T>C	c.(982-984)AAT>AAC	p.N328N	ACAD10_uc001tso.2_Intron|ACAD10_uc001tsp.1_Silent_p.N297N|ACAD10_uc001tsq.1_Silent_p.N297N|ACAD10_uc001tsr.2_Silent_p.N35N|ACAD10_uc001tss.1_Non-coding_Transcript	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	297					oxidation-reduction process		acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity			ovary(2)	2														0.225182	240.15892	268.825689	93	320	TT		KEEP	---	---	---	---	capture			Silent	SNP	110638048	110638048	109	12	T	C	C	50	50	ACAD10	C	4	4
TAS2R19	259294	broad.mit.edu	36	12	11065571	11065571	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:11065571G>A	uc001qzn.1	-	c.867C>T	c.(865-867)ACC>ACT	p.T289T	PRR4_uc009zhp.1_Intron|PRH1_uc001qzb.2_Intron|PRH1_uc001qzc.2_Intron|PRH1_uc001qze.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	taste receptor, type 2, member 48	289	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0														0.20603	96.456058	112.407711	41	158	GG		KEEP	---	---	---	---	capture			Silent	SNP	11065571	11065571	16092	12	G	A	A	35	35	TAS2R19	A	2	2
ACAD10	80724	broad.mit.edu	36	12	110667185	110667185	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110667185C>A	uc009zvx.1	+	c.2163C>A	c.(2161-2163)GCC>GCA	p.A721A	ACAD10_uc001tsp.1_Silent_p.A690A|ACAD10_uc001tsq.1_Silent_p.A690A|ACAD10_uc001tss.1_Non-coding_Transcript	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	690					oxidation-reduction process		acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity			ovary(2)	2														0.176923	36.342366	49.137569	23	107	CC		KEEP	---	---	---	---	capture			Silent	SNP	110667185	110667185	109	12	C	A	A	24	24	ACAD10	A	3	3
TMEM116	89894	broad.mit.edu	36	12	110865486	110865486	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110865486T>G	uc001ttd.1	-	c.281A>C	c.(280-282)AAA>ACA	p.K94T	TMEM116_uc001ttc.1_Missense_Mutation_p.K2T|TMEM116_uc001tte.1_Intron|TMEM116_uc001ttf.1_Missense_Mutation_p.K2T|TMEM116_uc001ttg.1_Non-coding_Transcript|TMEM116_uc001tth.1_5'UTR|TMEM116_uc001tti.1_Missense_Mutation_p.K94T	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN	transmembrane protein 116	2						integral to membrane				ovary(1)	1														0.464286	437.64117	437.950214	130	150	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110865486	110865486	16561	12	T	G	G	64	64	TMEM116	G	4	4
NAA25	80018	broad.mit.edu	36	12	110965319	110965319	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110965319A>G	uc001ttm.1	-	c.2330T>C	c.(2329-2331)TTT>TCT	p.F777S	NAA25_uc001ttn.2_Non-coding_Transcript|NAA25_uc009zvz.1_Missense_Mutation_p.F749S|NAA25_uc009zwa.1_Missense_Mutation_p.F777S	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	777						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3														0.227778	118.188844	130.420913	41	139	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110965319	110965319	10516	12	A	G	G	1	1	NAA25	G	4	4
NAA25	80018	broad.mit.edu	36	12	110982483	110982483	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110982483G>A	uc001ttm.1	-	c.1421C>T	c.(1420-1422)GCG>GTG	p.A474V	NAA25_uc001ttn.2_Non-coding_Transcript|NAA25_uc009zvz.1_Missense_Mutation_p.A446V|NAA25_uc009zwa.1_Missense_Mutation_p.A474V	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	474						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3														0.382653	202.369017	204.738669	75	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110982483	110982483	10516	12	G	A	A	38	38	NAA25	A	1	1
NAA25	80018	broad.mit.edu	36	12	110996917	110996917	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110996917C>T	uc001ttm.1	-	c.811G>A	c.(811-813)GAT>AAT	p.D271N	NAA25_uc001ttn.2_Non-coding_Transcript|NAA25_uc009zvz.1_Missense_Mutation_p.D243N|NAA25_uc009zwa.1_Missense_Mutation_p.D271N	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	271						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3														0.213115	110.066628	128.623974	52	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110996917	110996917	10516	12	C	T	T	31	31	NAA25	T	1	1
TRAFD1	10906	broad.mit.edu	36	12	111063235	111063235	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111063235C>A	uc001tto.1	+	c.467C>A	c.(466-468)TCT>TAT	p.S156Y	TRAFD1_uc009zwb.1_Missense_Mutation_p.S156Y|TRAFD1_uc001ttp.1_Missense_Mutation_p.S156Y	NM_006700	NP_006691	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	156					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0														0.233645	50.013	56.969171	25	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111063235	111063235	16991	12	C	A	A	32	32	TRAFD1	A	3	3
C12orf51	283450	broad.mit.edu	36	12	111093386	111093386	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111093386C>A	uc009zwc.1	-	c.10584G>T	c.(10582-10584)GAG>GAT	p.E3528D		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.35	33.835695	34.630639	14	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111093386	111093386	1740	12	C	A	A	32	32	C12orf51	A	3	3
C12orf51	283450	broad.mit.edu	36	12	111095031	111095031	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111095031A>G	uc009zwc.1	-	c.10346T>C	c.(10345-10347)GTC>GCC	p.V3449A		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.171875	74.069966	93.596084	33	159	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111095031	111095031	1740	12	A	G	G	10	10	C12orf51	G	4	4
C12orf51	283450	broad.mit.edu	36	12	111106857	111106857	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111106857G>T	uc009zwc.1	-	c.9030C>A	c.(9028-9030)ATC>ATA	p.I3010I		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.408451	289.858269	291.958013	116	168	GG		KEEP	---	---	---	---	capture			Silent	SNP	111106857	111106857	1740	12	G	T	T	33	33	C12orf51	T	3	3
C12orf51	283450	broad.mit.edu	36	12	111153825	111153825	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111153825G>T	uc009zwc.1	-	c.4809C>A	c.(4807-4809)CTC>CTA	p.L1603L		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.141667	19.395177	34.265048	17	103	GG		KEEP	---	---	---	---	capture			Silent	SNP	111153825	111153825	1740	12	G	T	T	45	45	C12orf51	T	3	3
C12orf51	283450	broad.mit.edu	36	12	111157392	111157392	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111157392A>G	uc009zwc.1	-	c.4521T>C	c.(4519-4521)AGT>AGC	p.S1507S		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.445545	150.674031	150.932796	45	56	AA		KEEP	---	---	---	---	capture			Silent	SNP	111157392	111157392	1740	12	A	G	G	10	10	C12orf51	G	4	4
PTPN11	5781	broad.mit.edu	36	12	111376781	111376781	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111376781C>T	uc001ttx.1	+	c.556C>T	c.(556-558)CGG>TGG	p.R186W	PTPN11_uc001ttw.1_Missense_Mutation_p.R186W	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	186	SH2 2.				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(372)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|ovary(1)|NS(1)|kidney(1)	388										372				0.198473	47.671866	58.766423	26	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111376781	111376781	13235	12	C	T	T	19	19	PTPN11	T	1	1
PTPN11	5781	broad.mit.edu	36	12	111404329	111404329	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111404329C>T	uc001ttx.1	+	c.1161C>T	c.(1159-1161)AAC>AAT	p.N387N	PTPN11_uc001ttw.1_Silent_p.N387N	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	387	Tyrosine-protein phosphatase.				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(372)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|ovary(1)|NS(1)|kidney(1)	388										372				0.447236	245.940815	246.424146	89	110	CC		KEEP	---	---	---	---	capture			Silent	SNP	111404329	111404329	13235	12	C	T	T	19	19	PTPN11	T	1	1
RPH3A	22895	broad.mit.edu	36	12	111770028	111770028	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111770028C>T	uc001ttz.1	+	c.228C>T	c.(226-228)ATC>ATT	p.I76I	RPH3A_uc001tty.1_Silent_p.I72I|RPH3A_uc009zwe.1_Silent_p.I72I	NM_014954	NP_055769	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 2	76	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(1)|skin(1)	5														0.178082	22.932757	30.055727	13	60	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.00453)	Silent	SNP	111770028	111770028	14030	12	C	T	T	31	31	RPH3A	T	1	1
RPH3A	22895	broad.mit.edu	36	12	111818039	111818039	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111818039C>T	uc001ttz.1	+	c.1932C>T	c.(1930-1932)ATC>ATT	p.I644I	RPH3A_uc001tty.1_Silent_p.I640I|RPH3A_uc001tua.1_Silent_p.I404I	NM_014954	NP_055769	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 2	644	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(1)|skin(1)	5														0.372727	110.443842	112.009882	41	69	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.00453)	Silent	SNP	111818039	111818039	14030	12	C	T	T	31	31	RPH3A	T	1	1
OAS3	4940	broad.mit.edu	36	12	111869052	111869052	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111869052G>A	uc001tug.1	+	c.758G>A	c.(757-759)CGA>CAA	p.R253Q		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	253	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1														0.419753	93.997692	94.436339	34	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111869052	111869052	11206	12	G	A	A	37	37	OAS3	A	1	1
OAS3	4940	broad.mit.edu	36	12	111886494	111886494	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111886494C>T	uc001tug.1	+	c.2301C>T	c.(2299-2301)CGC>CGT	p.R767R		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	767	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1														0.2	15.876237	19.226203	8	32	CC		KEEP	---	---	---	---	capture			Silent	SNP	111886494	111886494	11206	12	C	T	T	26	26	OAS3	T	2	2
OAS2	4939	broad.mit.edu	36	12	111900899	111900899	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111900899G>A	uc001tuj.1	+	c.103G>A	c.(103-105)GAC>AAC	p.D35N	OAS2_uc001tuh.1_Missense_Mutation_p.D35N|OAS2_uc001tui.1_Missense_Mutation_p.D35N	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	35	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						Pancreas(199;709 2232 18410 33584 35052)								0.19708	53.959605	65.661731	27	110	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111900899	111900899	11205	12	G	A	A	37	37	OAS2	A	1	1
OAS2	4939	broad.mit.edu	36	12	111919869	111919869	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111919869C>A	uc001tuj.1	+	c.789C>A	c.(787-789)ATC>ATA	p.I263I	OAS2_uc001tui.1_Silent_p.I263I	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	263	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						Pancreas(199;709 2232 18410 33584 35052)								0.214286	34.997257	41.33674	18	66	CC		KEEP	---	---	---	---	capture			Silent	SNP	111919869	111919869	11205	12	C	A	A	32	32	OAS2	A	3	3
RASAL1	8437	broad.mit.edu	36	12	112022197	112022197	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112022197G>T	uc001tun.1	-	c.2341C>A	c.(2341-2343)CTC>ATC	p.L781I	RASAL1_uc001tul.2_Missense_Mutation_p.L751I|RASAL1_uc001tum.1_Missense_Mutation_p.L779I	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	779					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(1)	3														0.233333	61.531855	69.350151	28	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112022197	112022197	13524	12	G	T	T	34	34	RASAL1	T	3	3
DDX54	79039	broad.mit.edu	36	12	112101430	112101430	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112101430G>A	uc001tuq.2	-	c.465C>T	c.(463-465)TTC>TTT	p.F155F	DDX54_uc001tup.1_Silent_p.F155F	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	155	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			central_nervous_system(1)|skin(1)	2														0.113208	8.728512	24.380844	12	94	GG		KEEP	---	---	---	---	capture			Silent	SNP	112101430	112101430	4543	12	G	A	A	37	37	DDX54	A	1	1
TPCN1	53373	broad.mit.edu	36	12	112182655	112182655	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112182655A>G	uc001tux.1	+	c.428A>G	c.(427-429)TAC>TGC	p.Y143C	TPCN1_uc001tuw.1_Missense_Mutation_p.Y71C	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	71	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1														0.4	152.086927	153.13277	48	72	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112182655	112182655	16939	12	A	G	G	14	14	TPCN1	G	4	4
TPCN1	53373	broad.mit.edu	36	12	112199471	112199471	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112199471G>A	uc001tux.1	+	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	TPCN1_uc001tuw.1_Missense_Mutation_p.R368H	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	368	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1														0.223529	38.985097	44.956596	19	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112199471	112199471	16939	12	G	A	A	38	38	TPCN1	A	1	1
TPCN1	53373	broad.mit.edu	36	12	112215144	112215144	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112215144G>T	uc001tux.1	+	c.2352G>T	c.(2350-2352)GAG>GAT	p.E784D	TPCN1_uc001tuw.1_Missense_Mutation_p.E712D	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	712	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1														0.176166	55.916578	75.014661	34	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112215144	112215144	16939	12	G	T	T	33	33	TPCN1	T	3	3
SLC24A6	80024	broad.mit.edu	36	12	112243503	112243503	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112243503G>A	uc001tvc.1	-	c.190C>T	c.(190-192)CGC>TGC	p.R64C	SLC24A6_uc001tuz.1_5'Flank|SLC24A6_uc001tva.1_5'Flank|SLC24A6_uc001tvb.1_5'Flank|SLC24A6_uc001tvd.1_Missense_Mutation_p.R64C	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6	64	Extracellular (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1														0.238663	248.121468	274.23547	100	319	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112243503	112243503	14967	12	G	A	A	39	39	SLC24A6	A	1	1
PLBD2	196463	broad.mit.edu	36	12	112302943	112302943	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112302943G>A	uc001tve.1	+	c.870G>A	c.(868-870)CCG>CCA	p.P290P	PLBD2_uc001tvf.1_Silent_p.P290P	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	mannose-6-phosphate protein p76	290					lipid catabolic process	lysosomal lumen	hydrolase activity				0														0.8	12.118856	12.520782	4	1	GG		KEEP	---	---	---	---	capture			Silent	SNP	112302943	112302943	12452	12	G	A	A	38	38	PLBD2	A	1	1
TAS2R42	353164	broad.mit.edu	36	12	11230763	11230763	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:11230763T>G	uc001qzr.1	-	c.48A>C	c.(46-48)GAA>GAC	p.E16D	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	16	Helical; Name=1; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1						Melanoma(15;352 722 10077 19546 48810)								0.426009	310.296059	311.359434	95	128	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		Missense_Mutation	SNP	11230763	11230763	16102	12	T	G	G	52	52	TAS2R42	G	4	4
PLBD2	196463	broad.mit.edu	36	12	112309226	112309226	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112309226G>A	uc001tve.1	+	c.1388G>A	c.(1387-1389)CGG>CAG	p.R463Q	PLBD2_uc001tvf.1_Missense_Mutation_p.R431Q	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	mannose-6-phosphate protein p76	463					lipid catabolic process	lysosomal lumen	hydrolase activity				0														0.223529	125.928457	143.793573	57	198	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112309226	112309226	12452	12	G	A	A	39	39	PLBD2	A	1	1
SDS	10993	broad.mit.edu	36	12	112315289	112315289	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112315289G>A	uc001tvg.1	-	c.827C>T	c.(826-828)GCT>GTT	p.A276V		NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	276					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.454936	289.116412	289.527707	106	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112315289	112315289	14461	12	G	A	A	34	34	SDS	A	2	2
RBM19	9904	broad.mit.edu	36	12	112871036	112871036	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112871036G>A	uc009zwi.1	-	c.1261C>T	c.(1261-1263)CTC>TTC	p.L421F	RBM19_uc001tvm.1_Missense_Mutation_p.L421F|RBM19_uc001tvn.2_Missense_Mutation_p.L421F	NM_016196	NP_057280	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	421	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.384615	160.586951	162.257526	55	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112871036	112871036	13582	12	G	A	A	34	34	RBM19	A	2	2
TBX3	6926	broad.mit.edu	36	12	113594470	113594470	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:113594470G>A	uc001tvt.1	-	c.1791C>T	c.(1789-1791)TTC>TTT	p.F597F	TBX3_uc001tvu.1_Silent_p.F577F	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	597	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	general transcriptional repressor activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)	2	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.666667	29.350266	29.717916	10	5	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0574)	Silent	SNP	113594470	113594470	16185	12	G	A	A	37	37	TBX3	A	1	1
MED13L	23389	broad.mit.edu	36	12	114892959	114892959	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:114892959C>A	uc001tvw.1	-	c.5891_splice	c.e27-1	p.D1964_splice		NM_015335	NP_056150			mediator complex subunit 13-like						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)									497				0.147368	19.681874	31.03595	14	81	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0407)	Splice_Site_SNP	SNP	114892959	114892959	9820	12	C	A	A	32	32	MED13L	A	5	3
MED13L	23389	broad.mit.edu	36	12	114905562	114905562	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:114905562C>T	uc001tvw.1	-	c.4698G>A	c.(4696-4698)TCG>TCA	p.S1566S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1566	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)									497		OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.237864	111.770001	124.704352	49	157	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0407)	Silent	SNP	114905562	114905562	9820	12	C	T	T	31	31	MED13L	T	1	1
MED13L	23389	broad.mit.edu	36	12	114905705	114905705	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:114905705G>T	uc001tvw.1	-	c.4555C>A	c.(4555-4557)CTT>ATT	p.L1519I		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1519					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)									497		OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.204678	71.911726	85.770287	35	136	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0407)	Missense_Mutation	SNP	114905705	114905705	9820	12	G	T	T	34	34	MED13L	T	3	3
MED13L	23389	broad.mit.edu	36	12	114913338	114913338	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:114913338A>G	uc001tvw.1	-	c.3804T>C	c.(3802-3804)AAT>AAC	p.N1268N		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1268					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)									497				0.455319	361.927268	362.33168	107	128	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0407)	Silent	SNP	114913338	114913338	9820	12	A	G	G	16	16	MED13L	G	4	4
MED13L	23389	broad.mit.edu	36	12	114928122	114928122	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:114928122C>T	uc001tvw.1	-	c.2404G>A	c.(2404-2406)GAT>AAT	p.D802N		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	802					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)									497				0.162037	57.646625	81.197421	35	181	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0407)	Missense_Mutation	SNP	114928122	114928122	9820	12	C	T	T	32	32	MED13L	T	2	2
MED13L	23389	broad.mit.edu	36	12	114931156	114931156	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:114931156C>A	uc001tvw.1	-	c.1445G>T	c.(1444-1446)AGA>ATA	p.R482I		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	482					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)									497				0.187739	85.802475	109.654689	49	212	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0407)	Missense_Mutation	SNP	114931156	114931156	9820	12	C	A	A	32	32	MED13L	A	3	3
RNFT2	84900	broad.mit.edu	36	12	115758174	115758174	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:115758174C>T	uc009zwn.1	+	c.1059C>T	c.(1057-1059)GGC>GGT	p.G353G	RNFT2_uc001twb.2_Silent_p.G353G|RNFT2_uc001twa.2_Silent_p.G263G|RNFT2_uc001twc.2_Silent_p.G101G	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1	353	Extracellular (Potential).					integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)													0.19337	63.637431	79.518195	35	146	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.034)	Silent	SNP	115758174	115758174	13981	12	C	T	T	27	27	RNFT2	T	1	1
NOS1	4842	broad.mit.edu	36	12	116149756	116149756	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116149756G>T	uc001twm.1	-	c.3479C>A	c.(3478-3480)TCT>TAT	p.S1160Y		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1160	FAD-binding FR-type.				arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction 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(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.193431	95.697165	119.756368	53	221	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0561)	Missense_Mutation	SNP	116149756	116149756	10944	12	G	T	T	33	33	NOS1	T	3	3
NOS1	4842	broad.mit.edu	36	12	116200219	116200219	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116200219G>A	uc001twm.1	-	c.1592C>T	c.(1591-1593)GCC>GTC	p.A531V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	531					arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction 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(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.441489	221.71546	222.270938	83	105	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0561)	Missense_Mutation	SNP	116200219	116200219	10944	12	G	A	A	42	42	NOS1	A	2	2
KSR2	283455	broad.mit.edu	36	12	116407819	116407819	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116407819G>A	uc001two.2	-	c.2193C>T	c.(2191-2193)GTC>GTT	p.V731V		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	760	Protein kinase.				intracellular signal transduction|protein phosphorylation	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(7)|central_nervous_system(2)|large_intestine(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)									623				0.415663	182.213518	183.251216	69	97	GG		KEEP	---	---	---	---	capture			Silent	SNP	116407819	116407819	8905	12	G	A	A	45	45	KSR2	A	2	2
KSR2	283455	broad.mit.edu	36	12	116589759	116589759	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116589759C>T	uc001two.2	-	c.987G>A	c.(985-987)CCG>CCA	p.P329P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	358					intracellular signal transduction|protein phosphorylation	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(7)|central_nervous_system(2)|large_intestine(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)									623				0.195652	15.845212	19.823263	9	37	CC		KEEP	---	---	---	---	capture			Silent	SNP	116589759	116589759	8905	12	C	T	T	27	27	KSR2	T	1	1
WSB2	55884	broad.mit.edu	36	12	116956466	116956466	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116956466C>T	uc001twr.1	-	c.1133G>A	c.(1132-1134)CGA>CAA	p.R378Q		NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	378	SOCS box.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.43617	460.750822	462.083445	164	212	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116956466	116956466	17979	12	C	T	T	31	31	WSB2	T	1	1
VSIG10	54621	broad.mit.edu	36	12	116996122	116996122	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116996122C>T	uc001tws.1	-	c.984G>A	c.(982-984)ACG>ACA	p.T328T		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	hypothetical protein FLJ20674	328	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane					0														0.226087	52.890241	60.816223	26	89	CC		KEEP	---	---	---	---	capture			Silent	SNP	116996122	116996122	17790	12	C	T	T	27	27	VSIG10	T	1	1
VSIG10	54621	broad.mit.edu	36	12	117001560	117001560	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:117001560G>A	uc001tws.1	-	c.899C>T	c.(898-900)TCG>TTG	p.S300L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	hypothetical protein FLJ20674	300	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane					0														0.495327	147.436342	147.438618	53	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117001560	117001560	17790	12	G	A	A	37	37	VSIG10	A	1	1
SUDS3	64426	broad.mit.edu	36	12	117313344	117313344	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:117313344G>A	uc001twz.1	+	c.391G>A	c.(391-393)GAA>AAA	p.E131K		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	131	Potential.				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.184397	52.859742	66.040197	26	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117313344	117313344	15887	12	G	A	A	33	33	SUDS3	A	2	2
SRRM4	84530	broad.mit.edu	36	12	118024444	118024444	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118024444C>T	uc001txa.1	+	c.152C>T	c.(151-153)CCC>CTC	p.P51L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	51					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2														0.134328	25.648572	43.051284	18	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118024444	118024444	15685	12	C	T	T	22	22	SRRM4	T	2	2
SRRM4	84530	broad.mit.edu	36	12	118067642	118067642	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118067642C>T	uc001txa.1	+	c.845C>T	c.(844-846)TCC>TTC	p.S282F		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	282	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2														0.151515	7.652196	11.492219	5	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118067642	118067642	15685	12	C	T	T	30	30	SRRM4	T	2	2
SRRM4	84530	broad.mit.edu	36	12	118073344	118073344	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118073344C>T	uc001txa.1	+	c.1216C>T	c.(1216-1218)CGA>TGA	p.R406*		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	406	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2														0.147727	44.131684	65.106568	26	150	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	118073344	118073344	15685	12	C	T	T	23	23	SRRM4	T	5	1
CCDC60	160777	broad.mit.edu	36	12	118453236	118453236	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118453236C>T	uc001txe.1	+	c.1536C>T	c.(1534-1536)ATC>ATT	p.I512I		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	512										ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.208738	89.415436	105.595996	43	163	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.207)	Silent	SNP	118453236	118453236	2954	12	C	T	T	31	31	CCDC60	T	1	1
PRKAB1	5564	broad.mit.edu	36	12	118602483	118602483	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118602483C>T	uc009zwu.1	+	c.783C>T	c.(781-783)TAC>TAT	p.Y261Y	PRKAB1_uc001txg.1_Silent_p.Y261Y	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	261					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Adenosine monophosphate(DB00131)|Metformin(DB00331)									0.366667	58.135156	59.072452	22	38	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.166)	Silent	SNP	118602483	118602483	12938	12	C	T	T	19	19	PRKAB1	T	1	1
CIT	11113	broad.mit.edu	36	12	118698557	118698557	+	Silent	SNP	C	T	T	rs35132196	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118698557C>T	uc001txj.1	-	c.1875G>A	c.(1873-1875)GCG>GCA	p.A625A	CIT_uc001txh.1_Silent_p.A159A|CIT_uc001txi.1_Silent_p.A625A	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	625	Potential.				intracellular signal transduction|protein phosphorylation		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)								1263				0.377778	464.217035	470.122669	170	280	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.211)	Silent	SNP	118698557	118698557	3573	12	C	T	T	31	31	CIT	T	1	1
CIT	11113	broad.mit.edu	36	12	118754961	118754961	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118754961C>A	uc001txj.1	-	c.750G>T	c.(748-750)AAG>AAT	p.K250N	CIT_uc001txi.1_Missense_Mutation_p.K250N	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	250	Protein kinase.				intracellular signal transduction|protein phosphorylation		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)								1263				0.388626	208.974139	211.275557	82	129	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.211)	Missense_Mutation	SNP	118754961	118754961	3573	12	C	A	A	32	32	CIT	A	3	3
GCN1L1	10985	broad.mit.edu	36	12	119059762	119059762	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119059762C>A	uc001txo.1	-	c.6633G>T	c.(6631-6633)GAG>GAT	p.E2211D		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2211	HEAT 19.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(3)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.166667	53.608816	75.732021	35	175	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119059762	119059762	6565	12	C	A	A	32	32	GCN1L1	A	3	3
GCN1L1	10985	broad.mit.edu	36	12	119077212	119077212	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119077212G>A	uc001txo.1	-	c.3646C>T	c.(3646-3648)CTG>TTG	p.L1216L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1216					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(3)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.410526	110.897169	111.563619	39	56	GG		KEEP	---	---	---	---	capture			Silent	SNP	119077212	119077212	6565	12	G	A	A	34	34	GCN1L1	A	2	2
GCN1L1	10985	broad.mit.edu	36	12	119090441	119090441	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119090441C>A	uc001txo.1	-	c.1566G>T	c.(1564-1566)AAG>AAT	p.K522N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	522					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(3)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.383966	237.150429	239.953421	91	146	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119090441	119090441	6565	12	C	A	A	28	28	GCN1L1	A	3	3
SIRT4	23409	broad.mit.edu	36	12	119235142	119235142	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119235142C>T	uc001tyc.1	+	c.865C>T	c.(865-867)CCC>TCC	p.P289S		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	289	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.517391	343.908031	343.967752	119	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119235142	119235142	14835	12	C	T	T	26	26	SIRT4	T	2	2
MSI1	4440	broad.mit.edu	36	12	119275489	119275489	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119275489G>A	uc001tye.1	-	c.729C>T	c.(727-729)TTC>TTT	p.F243F		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	243					nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.155738	89.740527	131.17183	57	309	GG		KEEP	---	---	---	---	capture			Silent	SNP	119275489	119275489	10268	12	G	A	A	41	41	MSI1	A	2	2
RNF10	9921	broad.mit.edu	36	12	119487371	119487371	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119487371C>T	uc001typ.2	+	c.1779C>T	c.(1777-1779)TTC>TTT	p.F593F	RNF10_uc001tyq.2_Silent_p.F504F|RNF10_uc001tyr.2_Non-coding_Transcript	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	593					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	promoter binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.164557	76.064965	101.391477	39	198	CC		KEEP	---	---	---	---	capture			Silent	SNP	119487371	119487371	13899	12	C	T	T	32	32	RNF10	T	2	2
RNF10	9921	broad.mit.edu	36	12	119489107	119489107	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119489107C>T	uc001typ.2	+	c.1982C>T	c.(1981-1983)ACC>ATC	p.T661I	RNF10_uc001tyq.2_Missense_Mutation_p.T572I|RNF10_uc001tyr.2_Non-coding_Transcript	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	661					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	promoter binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.183486	114.314107	145.059715	60	267	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119489107	119489107	13899	12	C	T	T	18	18	RNF10	T	2	2
CABP1	9478	broad.mit.edu	36	12	119582071	119582071	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119582071C>A	uc001tyu.1	+	c.662C>A	c.(661-663)TCA>TAA	p.S221*	CABP1_uc001tyv.1_Nonsense_Mutation_p.S78*|CABP1_uc001tyw.1_Nonsense_Mutation_p.S18*|CABP1_uc001tyx.1_Nonsense_Mutation_p.S63*	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	221						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.418803	128.347475	129.021541	49	68	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	119582071	119582071	2647	12	C	A	A	29	29	CABP1	A	5	3
CABP1	9478	broad.mit.edu	36	12	119582498	119582498	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119582498G>A	uc001tyu.1	+	c.802G>A	c.(802-804)GAA>AAA	p.E268K	CABP1_uc001tyv.1_Missense_Mutation_p.E125K|CABP1_uc001tyw.1_Missense_Mutation_p.E65K|CABP1_uc001tyx.1_Missense_Mutation_p.E110K	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	268	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.14433	19.797605	31.601682	14	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119582498	119582498	2647	12	G	A	A	37	37	CABP1	A	1	1
MLEC	9761	broad.mit.edu	36	12	119617110	119617110	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119617110G>A	uc001tyy.1	+	c.515G>A	c.(514-516)AGC>AAC	p.S172N		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin	172	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1														0.414013	375.580742	377.610847	130	184	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119617110	119617110	10003	12	G	A	A	34	34	MLEC	A	2	2
ACADS	35	broad.mit.edu	36	12	119660067	119660067	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119660067G>A	uc001tza.2	+	c.517G>A	c.(517-519)GAG>AAG	p.E173K	ACADS_uc001tzb.2_Missense_Mutation_p.E100K	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	173						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)									0.485507	183.210973	183.235935	67	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119660067	119660067	115	12	G	A	A	37	37	ACADS	A	1	1
HNF1A	6927	broad.mit.edu	36	12	119915869	119915869	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119915869G>T	uc001tzg.1	+	c.690G>T	c.(688-690)GAG>GAT	p.E230D	HNF1A_uc001tze.1_Missense_Mutation_p.E230D|HNF1A_uc001tzf.2_Missense_Mutation_p.E230D	NM_000545	NP_000536	P20823	HNF1A_HUMAN	transcription factor 1, hepatic	230	Homeobox; HNF1-type.				glucose homeostasis|glucose import|insulin secretion|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|nucleus|protein complex	DNA binding|promoter binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription activator activity			liver(91)|large_intestine(15)|endometrium(6)|breast(2)	114	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)									239				0.202703	27.479841	33.559826	15	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119915869	119915869	7543	12	G	T	T	33	33	HNF1A	T	3	3
OASL	8638	broad.mit.edu	36	12	119953698	119953698	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119953698C>T	uc001tzj.1	-	c.587G>A	c.(586-588)AGA>AAA	p.R196K	OASL_uc001tzk.1_Missense_Mutation_p.R196K	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	196					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				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					Colon(192;517 2041 31392 31913 39966)								0.201031	84.006335	100.132775	39	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119953698	119953698	11207	12	C	T	T	32	32	OASL	T	2	2
P2RX7	5027	broad.mit.edu	36	12	120097573	120097573	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120097573G>T	uc001tzm.1	+	c.882_splice	c.e9-1	p.R294_splice	P2RX7_uc001tzn.1_Splice_Site_SNP_p.R204_splice|P2RX7_uc001tzo.1_Splice_Site_SNP|P2RX7_uc001tzp.1_Splice_Site_SNP_p.R5_splice|P2RX7_uc001tzq.1_Splice_Site_SNP_p.R124_splice	NM_002562	NP_002553			purinergic receptor P2X7							integral to membrane	ATP binding|ion channel activity|receptor activity			large_intestine(2)|lung(1)|breast(1)	4	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)									719				0.197802	65.970732	81.478421	36	146	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	120097573	120097573	11758	12	G	T	T	33	33	P2RX7	T	5	3
P2RX4	5025	broad.mit.edu	36	12	120155245	120155245	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120155245G>T	uc001tzs.1	+	c.1155G>T	c.(1153-1155)GAG>GAT	p.E385D	P2RX4_uc001tzr.1_Missense_Mutation_p.E369D|P2RX4_uc009zxb.1_Non-coding_Transcript|P2RX4_uc009zxc.1_Missense_Mutation_p.E342D	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	369	Cytoplasmic (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|integral to plasma membrane|perinuclear region of cytoplasm	ATP binding|cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.209459	171.912954	206.640053	93	351	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120155245	120155245	11755	12	G	T	T	33	33	P2RX4	T	3	3
ANAPC5	51433	broad.mit.edu	36	12	120257759	120257759	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120257759C>T	uc001uag.1	-	c.910G>A	c.(910-912)GCT>ACT	p.A304T	ANAPC5_uc001uae.1_5'UTR|ANAPC5_uc001uaf.1_Non-coding_Transcript|ANAPC5_uc009zxd.1_Missense_Mutation_p.A304T|ANAPC5_uc001uah.1_Missense_Mutation_p.A205T|ANAPC5_uc001uai.1_5'UTR|ANAPC5_uc001uaj.1_Non-coding_Transcript	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	304	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)									448				0.184162	175.045033	225.848462	100	443	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120257759	120257759	608	12	C	T	T	27	27	ANAPC5	T	1	1
KDM2B	84678	broad.mit.edu	36	12	120432000	120432000	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120432000C>T	uc001uat.1	-	c.1400G>A	c.(1399-1401)CGA>CAA	p.R467Q	KDM2B_uc001uas.1_Missense_Mutation_p.R436Q|KDM2B_uc009zxe.1_Missense_Mutation_p.R436Q|KDM2B_uc001uau.1_Missense_Mutation_p.R350Q|KDM2B_uc009zxf.1_Missense_Mutation_p.R467Q|KDM2B_uc001uav.2_Missense_Mutation_p.R377Q|KDM2B_uc001uar.1_Missense_Mutation_p.R58Q	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	467					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)	1														0.248485	92.206103	101.695104	41	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120432000	120432000	8431	12	C	T	T	31	31	KDM2B	T	1	1
KDM2B	84678	broad.mit.edu	36	12	120471874	120471874	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120471874C>T	uc001uat.1	-	c.450G>A	c.(448-450)GAG>GAA	p.E150E	KDM2B_uc001uas.1_Silent_p.E119E|KDM2B_uc009zxe.1_Silent_p.E119E|KDM2B_uc001uau.1_Silent_p.E33E|KDM2B_uc009zxf.1_Silent_p.E150E|KDM2B_uc001uav.2_Silent_p.E150E	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	150					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)	1														0.189944	70.351452	86.43967	34	145	CC		KEEP	---	---	---	---	capture			Silent	SNP	120471874	120471874	8431	12	C	T	T	32	32	KDM2B	T	2	2
IQSEC3	440073	broad.mit.edu	36	12	120701	120701	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120701C>T	uc001qhw.1	+	c.1233C>T	c.(1231-1233)CGC>CGT	p.R411R	IQSEC3_uc001qhu.1_Silent_p.R411R	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	714	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)	3	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)													0.415301	205.862556	207.009009	76	107	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	Silent	SNP	120701	120701	8122	12	C	T	T	27	27	IQSEC3	T	1	1
HPD	3242	broad.mit.edu	36	12	120769475	120769475	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120769475A>C	uc001ubj.1	-	c.625T>G	c.(625-627)TTC>GTC	p.F209V	HPD_uc001ubk.1_Missense_Mutation_p.F170V	NM_002150	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	209					L-phenylalanine catabolic process|oxidation-reduction process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				Nitisinone(DB00348)									0.182648	74.962348	95.682482	40	179	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Missense_Mutation	SNP	120769475	120769475	7624	12	A	C	C	3	3	HPD	C	4	4
PSMD9	5715	broad.mit.edu	36	12	120821991	120821991	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120821991G>A	uc001ubl.1	+	c.310G>A	c.(310-312)GAC>AAC	p.D104N	PSMD9_uc009zxj.1_Non-coding_Transcript|PSMD9_uc001ubm.1_Missense_Mutation_p.D104N	NM_002813	NP_002804	O00233	PSMD9_HUMAN	proteasome 26S non-ATPase subunit 9	104					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 insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.37931	54.401177	55.153524	22	36	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)	Missense_Mutation	SNP	120821991	120821991	13158	12	G	A	A	37	37	PSMD9	A	1	1
WDR66	144406	broad.mit.edu	36	12	120864896	120864896	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120864896G>A	uc009zxk.1	+	c.1072G>A	c.(1072-1074)GCC>ACC	p.A358T		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	358	WD 2.						calcium ion binding			ovary(1)	1	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)					Esophageal Squamous(85;849 1794 49757 52143)								0.364706	79.394914	80.76612	31	54	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	Missense_Mutation	SNP	120864896	120864896	17890	12	G	A	A	38	38	WDR66	A	1	1
WDR66	144406	broad.mit.edu	36	12	120922198	120922198	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120922198G>A	uc009zxk.1	+	c.3200G>A	c.(3199-3201)CGA>CAA	p.R1067Q		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1067							calcium ion binding			ovary(1)	1	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)					Esophageal Squamous(85;849 1794 49757 52143)								0.431472	238.832258	239.641013	85	112	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	Missense_Mutation	SNP	120922198	120922198	17890	12	G	A	A	37	37	WDR66	A	1	1
LRRC43	254050	broad.mit.edu	36	12	121243316	121243316	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121243316C>T	uc009zxm.1	+	c.1161C>T	c.(1159-1161)ATC>ATT	p.I387I	LRRC43_uc001ubw.2_Silent_p.I202I|LRRC43_uc009zxn.1_Silent_p.I148I	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	387	Glu-rich.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.251613	89.092144	97.754738	39	116	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Silent	SNP	121243316	121243316	9376	12	C	T	T	31	31	LRRC43	T	1	1
LRRC43	254050	broad.mit.edu	36	12	121250785	121250785	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121250785G>A	uc009zxm.1	+	c.1446G>A	c.(1444-1446)AAG>AAA	p.K482K	LRRC43_uc001ubw.2_Silent_p.K297K|LRRC43_uc009zxn.1_Silent_p.K243K	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	482											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.219298	120.721778	137.275141	50	178	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Silent	SNP	121250785	121250785	9376	12	G	A	A	35	35	LRRC43	A	2	2
B3GNT4	79369	broad.mit.edu	36	12	121257059	121257059	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121257059G>A	uc001ubx.1	+	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	B3GNT4_uc001uby.1_Missense_Mutation_p.R78Q	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	103	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.438152	828.25164	830.486834	294	377	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	Missense_Mutation	SNP	121257059	121257059	1280	12	G	A	A	37	37	B3GNT4	A	1	1
VPS33A	65082	broad.mit.edu	36	12	121300451	121300451	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121300451C>T	uc001ucd.1	-	c.695G>A	c.(694-696)CGG>CAG	p.R232Q	VPS33A_uc001ucc.1_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	232					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.359649	221.681878	225.637741	82	146	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	Missense_Mutation	SNP	121300451	121300451	17768	12	C	T	T	23	23	VPS33A	T	1	1
BCL2L14	79370	broad.mit.edu	36	12	12131560	12131560	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12131560G>A	uc001rac.1	+	c.580G>A	c.(580-582)GTG>ATG	p.V194M	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Missense_Mutation_p.V194M|BCL2L14_uc001rad.1_Missense_Mutation_p.V194M|BCL2L14_uc001rae.1_Missense_Mutation_p.V194M	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	194					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)								10				0.219595	131.497993	152.960243	65	231	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.154)	Missense_Mutation	SNP	12131560	12131560	1393	12	G	A	A	40	40	BCL2L14	A	1	1
CLIP1	6249	broad.mit.edu	36	12	121378458	121378458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121378458C>T	uc001ucg.1	-	c.3238G>A	c.(3238-3240)GAC>AAC	p.D1080N	CLIP1_uc001uch.1_Missense_Mutation_p.D1069N|CLIP1_uc001uci.1_Missense_Mutation_p.D1034N|CLIP1_uc001ucj.1_Missense_Mutation_p.D655N	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1080	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.495413	300.947385	300.951815	108	110	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	Missense_Mutation	SNP	121378458	121378458	3670	12	C	T	T	31	31	CLIP1	T	1	1
CLIP1	6249	broad.mit.edu	36	12	121387147	121387147	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121387147T>G	uc001ucg.1	-	c.2553A>C	c.(2551-2553)AAA>AAC	p.K851N	CLIP1_uc001uch.1_Missense_Mutation_p.K840N|CLIP1_uc001uci.1_Missense_Mutation_p.K805N|CLIP1_uc001ucj.1_Intron	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	851	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.419355	317.653915	319.062368	104	144	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	Missense_Mutation	SNP	121387147	121387147	3670	12	T	G	G	56	56	CLIP1	G	4	4
CLIP1	6249	broad.mit.edu	36	12	121392152	121392152	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121392152C>A	uc001ucg.1	-	c.1552G>T	c.(1552-1554)GAC>TAC	p.D518Y	CLIP1_uc001uch.1_Missense_Mutation_p.D507Y|CLIP1_uc001uci.1_Missense_Mutation_p.D472Y|CLIP1_uc001ucj.1_Missense_Mutation_p.D208Y|CLIP1_uc009zxo.1_Missense_Mutation_p.D74Y	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	518	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.196923	110.760113	138.643844	64	261	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	Missense_Mutation	SNP	121392152	121392152	3670	12	C	A	A	32	32	CLIP1	A	3	3
RSRC2	65117	broad.mit.edu	36	12	121567814	121567814	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121567814C>A	uc001ucu.1	-	c.515G>T	c.(514-516)AGA>ATA	p.R172I	RSRC2_uc001uco.1_5'UTR|RSRC2_uc001ucp.1_Missense_Mutation_p.R113I|RSRC2_uc001ucr.1_Missense_Mutation_p.R172I|RSRC2_uc001ucq.1_5'UTR|RSRC2_uc001ucs.1_5'UTR|RSRC2_uc001uct.1_Missense_Mutation_p.R124I	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	172	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.436214	276.285578	277.151247	106	137	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	Missense_Mutation	SNP	121567814	121567814	14195	12	C	A	A	32	32	RSRC2	A	3	3
RSRC2	65117	broad.mit.edu	36	12	121572675	121572675	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121572675C>T	uc001ucu.1	-	c.131G>A	c.(130-132)CGA>CAA	p.R44Q	RSRC2_uc001uco.1_5'UTR|RSRC2_uc001ucp.1_5'UTR|RSRC2_uc001ucr.1_Missense_Mutation_p.R44Q|RSRC2_uc001ucq.1_5'UTR|RSRC2_uc001ucs.1_5'UTR|RSRC2_uc001uct.1_5'UTR	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	44	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.427136	239.837501	240.759794	85	114	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	Missense_Mutation	SNP	121572675	121572675	14195	12	C	T	T	31	31	RSRC2	T	1	1
KNTC1	9735	broad.mit.edu	36	12	121659883	121659883	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121659883G>A	uc001ucv.1	+	c.5497_splice	c.e52-1	p.K1833_splice		NM_014708	NP_055523			Rough Deal homolog, centromere/kinetochore						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.318182	20.116745	20.763434	7	15	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	Splice_Site_SNP	SNP	121659883	121659883	8742	12	G	A	A	33	33	KNTC1	A	5	2
KNTC1	9735	broad.mit.edu	36	12	121664151	121664151	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121664151C>T	uc001ucv.1	+	c.5767C>T	c.(5767-5769)CTG>TTG	p.L1923L		NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1923					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.467742	86.166734	86.223165	29	33	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	Silent	SNP	121664151	121664151	8742	12	C	T	T	32	32	KNTC1	T	2	2
LRP6	4040	broad.mit.edu	36	12	12176128	12176128	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12176128G>A	uc001rah.2	-	c.3864C>T	c.(3862-3864)TGC>TGT	p.C1288C	BCL2L14_uc001raf.1_Intron	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	1288	LDL-receptor class A 2.|Extracellular (Potential).				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5		Prostate(47;0.0865)								618				0.508876	256.939021	256.950335	86	83	GG		KEEP	---	---	---	---	capture			Silent	SNP	12176128	12176128	9335	12	G	A	A	34	34	LRP6	A	2	2
GPR109B	8843	broad.mit.edu	36	12	121766218	121766218	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121766218G>A	uc001ucy.2	-	c.1020C>T	c.(1018-1020)GGC>GGT	p.G340G	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	G109B_HUMAN	G protein-coupled receptor 109B	340	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				Mepenzolate(DB04843)|Niacin(DB00627)									0.212389	44.527625	53.181966	24	89	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Silent	SNP	121766218	121766218	6900	12	G	A	A	38	38	GPR109B	A	1	1
GPR81	27198	broad.mit.edu	36	12	121780581	121780581	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121780581G>A	uc001ucz.1	-	c.259C>T	c.(259-261)CCC>TCC	p.P87S	GPR81_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	GPR81_HUMAN	G protein-coupled receptor 81	87	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|ovary(1)|pancreas(1)	4	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.544304	120.825372	120.961914	43	36	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	Missense_Mutation	SNP	121780581	121780581	6986	12	G	A	A	41	41	GPR81	A	2	2
CCDC62	84660	broad.mit.edu	36	12	121828072	121828072	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121828072C>T	uc001udc.1	+	c.118C>T	c.(118-120)CGA>TGA	p.R40*	CCDC62_uc001udd.1_Nonsense_Mutation_p.R40*|CCDC62_uc001ude.1_5'UTR	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	40	Potential.					cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)	4	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.247934	68.68783	75.685573	30	91	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	Nonsense_Mutation	SNP	121828072	121828072	2956	12	C	T	T	31	31	CCDC62	T	5	1
CCDC62	84660	broad.mit.edu	36	12	121831761	121831761	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121831761G>T	uc001udc.1	+	c.327G>T	c.(325-327)AAG>AAT	p.K109N	CCDC62_uc001udd.1_Missense_Mutation_p.K109N|CCDC62_uc001ude.1_Missense_Mutation_p.D8Y	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	109	Potential.					cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)	4	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.166667	49.031188	69.91842	33	165	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	Missense_Mutation	SNP	121831761	121831761	2956	12	G	T	T	33	33	CCDC62	T	3	3
HIP1R	9026	broad.mit.edu	36	12	121910712	121910712	+	Splice_Site_SNP	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121910712T>G	uc001udj.1	+	c.2559_splice	c.e26+2	p.R853_splice	HIP1R_uc001udk.1_Splice_Site_SNP_p.R118_splice	NM_003959	NP_003950			huntingtin interacting protein-1-related						receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.285714	7.291357	7.870574	4	10	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	Splice_Site_SNP	SNP	121910712	121910712	7400	12	T	G	G	59	59	HIP1R	G	5	4
LRP6	4040	broad.mit.edu	36	12	12191591	12191591	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12191591G>A	uc001rah.2	-	c.3373C>T	c.(3373-3375)CGA>TGA	p.R1125*	BCL2L14_uc001raf.1_Intron	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	1125	Extracellular (Potential).|LDL-receptor class B 19.|Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5		Prostate(47;0.0865)								618				0.428571	364.043015	365.413478	132	176	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	12191591	12191591	9335	12	G	A	A	38	38	LRP6	A	5	1
LRP6	4040	broad.mit.edu	36	12	12208502	12208502	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12208502C>T	uc001rah.2	-	c.2024G>A	c.(2023-2025)CGA>CAA	p.R675Q	BCL2L14_uc001raf.1_Intron	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	675	Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 11.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5		Prostate(47;0.0865)								618				0.216374	78.175803	90.872826	37	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12208502	12208502	9335	12	C	T	T	31	31	LRP6	T	1	1
MPHOSPH9	10198	broad.mit.edu	36	12	122213585	122213585	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122213585C>T	uc001uel.1	-	c.2502G>A	c.(2500-2502)AAG>AAA	p.K834K	MPHOSPH9_uc001uem.1_Silent_p.K288K	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	834					M phase of mitotic cell cycle	Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.402235	208.158728	209.656144	72	107	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	Silent	SNP	122213585	122213585	10120	12	C	T	T	28	28	MPHOSPH9	T	2	2
LRP6	4040	broad.mit.edu	36	12	12225373	12225373	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12225373C>T	uc001rah.2	-	c.1244G>A	c.(1243-1245)CGA>CAA	p.R415Q	BCL2L14_uc001raf.1_Intron	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	415	Extracellular (Potential).|LDL-receptor class B 7.|Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5		Prostate(47;0.0865)							p.R415Q(MOLT16-Tumor)	618				0.430693	242.794464	243.639475	87	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12225373	12225373	9335	12	C	T	T	31	31	LRP6	T	1	1
SBNO1	55206	broad.mit.edu	36	12	122353398	122353398	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122353398G>A	uc009zxw.1	-	c.3771C>T	c.(3769-3771)GTC>GTT	p.V1257V	SBNO1_uc009zxv.1_Non-coding_Transcript|SBNO1_uc001uer.1_Silent_p.V1256V|SBNO1_uc009zxx.1_Silent_p.V208V	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1257							ATP binding|DNA binding|hydrolase activity			breast(5)|ovary(1)|kidney(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.16055	56.978346	80.900934	35	183	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	Silent	SNP	122353398	122353398	14343	12	G	A	A	37	37	SBNO1	A	1	1
SBNO1	55206	broad.mit.edu	36	12	122355220	122355220	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122355220C>A	uc009zxw.1	-	c.3631_splice	c.e28-1	p.I1211_splice	SBNO1_uc009zxv.1_Splice_Site_SNP|SBNO1_uc001uer.1_Splice_Site_SNP_p.I1210_splice|SBNO1_uc009zxx.1_Splice_Site_SNP_p.I162_splice|SBNO1_uc001ues.1_Intron	NM_018183	NP_060653			sno, strawberry notch homolog 1								ATP binding|DNA binding|hydrolase activity			breast(5)|ovary(1)|kidney(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.190476	37.030647	46.443589	20	85	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	Splice_Site_SNP	SNP	122355220	122355220	14343	12	C	A	A	32	32	SBNO1	A	5	3
SBNO1	55206	broad.mit.edu	36	12	122372218	122372218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122372218G>A	uc009zxw.1	-	c.2140C>T	c.(2140-2142)CGA>TGA	p.R714*	SBNO1_uc001uer.1_Nonsense_Mutation_p.R713*|SBNO1_uc009zxx.1_Intron|SBNO1_uc001uet.2_Nonsense_Mutation_p.R714*|SBNO1_uc001ueu.2_Nonsense_Mutation_p.R713*|SBNO1_uc001uev.2_Nonsense_Mutation_p.R712*|SBNO1_uc009zxy.1_Nonsense_Mutation_p.R679*	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	714							ATP binding|DNA binding|hydrolase activity			breast(5)|ovary(1)|kidney(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.210227	73.10351	86.76423	37	139	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	Nonsense_Mutation	SNP	122372218	122372218	14343	12	G	A	A	37	37	SBNO1	A	5	1
SBNO1	55206	broad.mit.edu	36	12	122374255	122374255	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122374255C>T	uc009zxw.1	-	c.2050G>A	c.(2050-2052)GAT>AAT	p.D684N	SBNO1_uc001uer.1_Missense_Mutation_p.D683N|SBNO1_uc009zxx.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.D684N|SBNO1_uc001ueu.2_Missense_Mutation_p.D683N|SBNO1_uc001uev.2_Missense_Mutation_p.D682N|SBNO1_uc009zxy.1_Missense_Mutation_p.D649N	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	684							ATP binding|DNA binding|hydrolase activity			breast(5)|ovary(1)|kidney(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.227941	67.856329	77.092529	31	105	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	Missense_Mutation	SNP	122374255	122374255	14343	12	C	T	T	31	31	SBNO1	T	1	1
SBNO1	55206	broad.mit.edu	36	12	122378016	122378016	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122378016T>C	uc009zxw.1	-	c.1602A>G	c.(1600-1602)CGA>CGG	p.R534R	SBNO1_uc001uer.1_Silent_p.R533R|SBNO1_uc009zxx.1_Intron|SBNO1_uc001uet.2_Silent_p.R534R|SBNO1_uc001ueu.2_Silent_p.R533R|SBNO1_uc001uev.2_Silent_p.R532R|SBNO1_uc009zxy.1_Silent_p.R499R	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	534							ATP binding|DNA binding|hydrolase activity			breast(5)|ovary(1)|kidney(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.459016	191.597545	191.774736	56	66	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	Silent	SNP	122378016	122378016	14343	12	T	C	C	58	58	SBNO1	C	4	4
SBNO1	55206	broad.mit.edu	36	12	122381834	122381834	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122381834G>T	uc009zxw.1	-	c.951C>A	c.(949-951)TTC>TTA	p.F317L	SBNO1_uc001uer.1_Missense_Mutation_p.F316L|SBNO1_uc009zxx.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.F317L|SBNO1_uc001ueu.2_Missense_Mutation_p.F316L|SBNO1_uc001uev.2_Missense_Mutation_p.F315L|SBNO1_uc009zxy.1_Missense_Mutation_p.F282L	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	317							ATP binding|DNA binding|hydrolase activity			breast(5)|ovary(1)|kidney(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.251163	116.22803	128.341247	54	161	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	Missense_Mutation	SNP	122381834	122381834	14343	12	G	T	T	33	33	SBNO1	T	3	3
SETD8	387893	broad.mit.edu	36	12	122445599	122445599	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122445599G>T	uc001uew.1	+	c.342G>T	c.(340-342)CAG>CAT	p.Q114H	SETD8_uc001uex.1_Missense_Mutation_p.Q49H	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing protein 8	155	Potential.				cell division|mitosis|negative regulation of gene-specific transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity|transcription repressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.173913	6.784012	9.094558	4	19	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	Missense_Mutation	SNP	122445599	122445599	14626	12	G	T	T	33	33	SETD8	T	3	3
SNRNP35	11066	broad.mit.edu	36	12	122516419	122516419	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122516419G>A	uc001uez.1	+	c.394G>A	c.(394-396)GAG>AAG	p.E132K	SNRNP35_uc001ufb.1_Missense_Mutation_p.E127K|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc009zxz.1_Missense_Mutation_p.E127K	NM_180703	NP_851034	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	127	RRM.				mRNA processing|RNA splicing	U12-type spliceosomal complex	nucleotide binding|RNA binding				0														0.407563	267.121894	268.900271	97	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122516419	122516419	15355	12	G	A	A	37	37	SNRNP35	A	1	1
TCTN2	79867	broad.mit.edu	36	12	122737399	122737399	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122737399G>A	uc001ufp.1	+	c.628G>A	c.(628-630)GAC>AAC	p.D210N	TCTN2_uc009zya.1_Missense_Mutation_p.D209N	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	210	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.418764	544.419113	546.942013	183	254	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	Missense_Mutation	SNP	122737399	122737399	16249	12	G	A	A	33	33	TCTN2	A	2	2
DNAH10	196385	broad.mit.edu	36	12	122847305	122847305	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122847305G>T	uc001uft.2	+	c.1782G>T	c.(1780-1782)GAG>GAT	p.E594D	DNAH10_uc009zyb.1_Missense_Mutation_p.E412D	NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	594	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.416974	299.91281	301.545594	113	158	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Missense_Mutation	SNP	122847305	122847305	4780	12	G	T	T	33	33	DNAH10	T	3	3
DNAH10	196385	broad.mit.edu	36	12	122850742	122850742	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122850742G>A	uc001uft.2	+	c.1962G>A	c.(1960-1962)TCG>TCA	p.S654S	DNAH10_uc009zyb.1_Silent_p.S472S	NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	654	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.245455	61.770575	68.262613	27	83	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Silent	SNP	122850742	122850742	4780	12	G	A	A	37	37	DNAH10	A	1	1
DNAH10	196385	broad.mit.edu	36	12	122851789	122851789	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122851789C>A	uc001uft.2	+	c.2117C>A	c.(2116-2118)GCT>GAT	p.A706D	DNAH10_uc009zyb.1_Missense_Mutation_p.A524D	NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	706	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.182927	196.707259	250.916269	105	469	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Missense_Mutation	SNP	122851789	122851789	4780	12	C	A	A	28	28	DNAH10	A	3	3
DNAH10	196385	broad.mit.edu	36	12	122864113	122864113	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122864113G>A	uc001uft.2	+	c.3240G>A	c.(3238-3240)GAG>GAA	p.E1080E	DNAH10_uc009zyb.1_Silent_p.E898E	NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	1080	Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.441379	191.074814	191.509895	64	81	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Silent	SNP	122864113	122864113	4780	12	G	A	A	34	34	DNAH10	A	2	2
DNAH10	196385	broad.mit.edu	36	12	122896244	122896244	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122896244G>A	uc001uft.2	+	c.5151G>A	c.(5149-5151)CGG>CGA	p.R1717R		NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	1717	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.531646	120.034382	120.102494	42	37	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Silent	SNP	122896244	122896244	4780	12	G	A	A	42	42	DNAH10	A	2	2
DNAH10	196385	broad.mit.edu	36	12	122967053	122967053	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122967053G>A	uc001uft.2	+	c.10465G>A	c.(10465-10467)GAT>AAT	p.D3489N		NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	3489	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.192825	80.293916	99.947248	43	180	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Missense_Mutation	SNP	122967053	122967053	4780	12	G	A	A	37	37	DNAH10	A	1	1
DNAH10	196385	broad.mit.edu	36	12	122979860	122979860	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122979860C>T	uc001uft.2	+	c.12038C>T	c.(12037-12039)CCG>CTG	p.P4013L	DNAH10_uc001ufu.2_5'UTR	NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	4013	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.466667	43.447078	43.476104	14	16	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Missense_Mutation	SNP	122979860	122979860	4780	12	C	T	T	23	23	DNAH10	T	1	1
DNAH10	196385	broad.mit.edu	36	12	122983999	122983999	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122983999C>T	uc001uft.2	+	c.13111C>T	c.(13111-13113)CGG>TGG	p.R4371W	DNAH10_uc001ufu.2_Missense_Mutation_p.R284W	NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	4371					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.15873	27.557148	41.530027	20	106	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Missense_Mutation	SNP	122983999	122983999	4780	12	C	T	T	27	27	DNAH10	T	1	1
DNAH10	196385	broad.mit.edu	36	12	122985246	122985246	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122985246G>A	uc001uft.2	+	c.13249G>A	c.(13249-13251)GCC>ACC	p.A4417T	DNAH10_uc001ufu.2_Missense_Mutation_p.A330T	NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	4417					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.553191	76.838217	76.952382	26	21	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Missense_Mutation	SNP	122985246	122985246	4780	12	G	A	A	34	34	DNAH10	A	2	2
CCDC92	80212	broad.mit.edu	36	12	122988088	122988088	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122988088C>T	uc001ufw.1	-	c.466G>A	c.(466-468)GCC>ACC	p.A156T	CCDC92_uc001ufv.1_Missense_Mutation_p.A139T|CCDC92_uc001ufy.1_Missense_Mutation_p.A139T|CCDC92_uc001ufx.1_Missense_Mutation_p.A156T	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	156											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.197861	64.390125	80.281019	37	150	CC		KEEP	---	---	---	---	capture		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	Missense_Mutation	SNP	122988088	122988088	2996	12	C	T	T	27	27	CCDC92	T	1	1
ZNF664	144348	broad.mit.edu	36	12	123062696	123062696	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:123062696C>T	uc001ufz.1	+	c.52C>T	c.(52-54)CTT>TTT	p.L18F	ZNF664_uc001uga.1_Missense_Mutation_p.L18F|ZNF664_uc001ugb.1_Missense_Mutation_p.L18F|ZNF664_uc009zyc.1_Missense_Mutation_p.L18F	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	18	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.117978	22.939052	48.478786	21	157	CC		KEEP	---	---	---	---	capture		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	Missense_Mutation	SNP	123062696	123062696	18667	12	C	T	T	32	32	ZNF664	T	2	2
ZNF664	144348	broad.mit.edu	36	12	123063195	123063195	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:123063195C>T	uc001ufz.1	+	c.551C>T	c.(550-552)TCG>TTG	p.S184L	ZNF664_uc001uga.1_Missense_Mutation_p.S184L|ZNF664_uc001ugb.1_Missense_Mutation_p.S184L|ZNF664_uc009zyc.1_Missense_Mutation_p.S184L	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	184	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.261603	145.083157	157.184395	62	175	CC		KEEP	---	---	---	---	capture		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	Missense_Mutation	SNP	123063195	123063195	18667	12	C	T	T	31	31	ZNF664	T	1	1
NCOR2	9612	broad.mit.edu	36	12	123393594	123393594	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:123393594G>A	uc009zyd.1	-	c.4867C>T	c.(4867-4869)CGG>TGG	p.R1623W	NCOR2_uc009zye.1_Missense_Mutation_p.R1607W|NCOR2_uc001ugh.2_Missense_Mutation_p.R1616W|NCOR2_uc001ugi.2_Missense_Mutation_p.R1606W	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1624					cellular lipid metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity			ovary(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.163)													0.444444	112.34952	112.619233	44	55	GG		KEEP	---	---	---	---	capture		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	Missense_Mutation	SNP	123393594	123393594	10635	12	G	A	A	37	37	NCOR2	A	1	1
NCOR2	9612	broad.mit.edu	36	12	123412634	123412634	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:123412634C>T	uc009zyd.1	-	c.3088G>A	c.(3088-3090)GAC>AAC	p.D1030N	NCOR2_uc009zye.1_Missense_Mutation_p.D1014N|NCOR2_uc001ugh.2_Missense_Mutation_p.D1031N|NCOR2_uc001ugi.2_Missense_Mutation_p.D1013N|NCOR2_uc001ugj.1_Missense_Mutation_p.D1031N	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1031					cellular lipid metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity			ovary(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.163)													0.166667	8.455713	11.617204	5	25	CC		KEEP	---	---	---	---	capture		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	Missense_Mutation	SNP	123412634	123412634	10635	12	C	T	T	31	31	NCOR2	T	1	1
MANSC1	54682	broad.mit.edu	36	12	12382733	12382733	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12382733G>A	uc001rai.1	-	c.252C>T	c.(250-252)TTC>TTT	p.F84F	MANSC1_uc001raj.1_Silent_p.F50F|MANSC1_uc009zht.1_Silent_p.F3F	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	84	MANSC.|Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)												0.490842	389.929766	389.949847	134	139	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.185)	Silent	SNP	12382733	12382733	9607	12	G	A	A	37	37	MANSC1	A	1	1
DHX37	57647	broad.mit.edu	36	12	124001217	124001217	+	Silent	SNP	G	A	A	rs61757600	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:124001217G>A	uc001ugy.1	-	c.2955C>T	c.(2953-2955)ATC>ATT	p.I985I	DHX37_uc001ugz.1_Silent_p.I72I	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	985							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.518519	162.713614	162.746917	56	52	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	Silent	SNP	124001217	124001217	4689	12	G	A	A	37	37	DHX37	A	1	1
LOH12CR1	118426	broad.mit.edu	36	12	12405502	12405502	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12405502G>A	uc001ral.1	+	c.154G>A	c.(154-156)GAT>AAT	p.D52N	LOH12CR1_uc009zhu.1_Intron	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	52										ovary(1)	1		Prostate(47;0.0802)												0.230088	168.594121	191.224207	78	261	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.0205)	Missense_Mutation	SNP	12405502	12405502	9263	12	G	A	A	37	37	LOH12CR1	A	1	1
DUSP16	80824	broad.mit.edu	36	12	12524470	12524470	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12524470C>T	uc001rao.1	-	c.769G>A	c.(769-771)GCC>ACC	p.A257T	DUSP16_uc001ran.1_Missense_Mutation_p.A109T	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	257	Tyrosine-protein phosphatase.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)				Ovarian(158;443 1896 15437 36069 46477)								0.396226	337.801622	340.790308	126	192	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.0203)	Missense_Mutation	SNP	12524470	12524470	5001	12	C	T	T	27	27	DUSP16	T	1	1
DUSP16	80824	broad.mit.edu	36	12	12544729	12544729	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12544729G>A	uc001rao.1	-	c.522C>T	c.(520-522)GTC>GTT	p.V174V	DUSP16_uc001ran.1_Intron	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	174					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)				Ovarian(158;443 1896 15437 36069 46477)								0.09596	8.815153	41.202974	19	179	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.0203)	Silent	SNP	12544729	12544729	5001	12	G	A	A	41	41	DUSP16	A	2	2
GPR19	2842	broad.mit.edu	36	12	12706141	12706141	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12706141G>T	uc001rar.2	-	c.509C>A	c.(508-510)CCT>CAT	p.P170H	GPR19_uc001raq.1_Missense_Mutation_p.P170H	NM_006143	NP_006134	Q15760	GPR19_HUMAN	G protein-coupled receptor 19	170	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(47;0.0802)												0.182222	73.424872	94.783409	41	184	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.048)	Missense_Mutation	SNP	12706141	12706141	6954	12	G	T	T	35	35	GPR19	T	3	3
CDKN1B	1027	broad.mit.edu	36	12	12763061	12763061	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12763061G>T	uc001rat.1	+	c.511G>T	c.(511-513)GAA>TAA	p.E171*		NM_004064	NP_004055	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B	171					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of gene-specific transcription|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			ovary(1)	1		Prostate(47;0.0322)|all_epithelial(100;0.159)								63				0.473016	402.710732	402.912857	149	166	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.0336)	Nonsense_Mutation	SNP	12763061	12763061	3288	12	G	T	T	33	33	CDKN1B	T	5	3
GLT1D1	144423	broad.mit.edu	36	12	127926481	127926481	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:127926481G>A	uc001uhx.1	+	c.138G>A	c.(136-138)GAG>GAA	p.E46E	GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	46					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.426667	569.811829	571.925937	192	258	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	Silent	SNP	127926481	127926481	6733	12	G	A	A	33	33	GLT1D1	A	2	2
TMEM132D	121256	broad.mit.edu	36	12	128124435	128124435	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:128124435G>A	uc009zyl.1	-	c.3238C>T	c.(3238-3240)CTG>TTG	p.L1080L	TMEM132D_uc001uia.2_Silent_p.L618L	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D	1080	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)												0.441088	437.300118	438.301767	146	185	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	Silent	SNP	128124435	128124435	16579	12	G	A	A	33	33	TMEM132D	A	2	2
TMEM132D	121256	broad.mit.edu	36	12	128135006	128135006	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:128135006G>T	uc009zyl.1	-	c.1638C>A	c.(1636-1638)GTC>GTA	p.V546V	TMEM132D_uc001uia.2_Silent_p.V84V	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D	546	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)												0.428571	86.45202	86.796549	33	44	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	Silent	SNP	128135006	128135006	16579	12	G	T	T	33	33	TMEM132D	T	3	3
TMEM132D	121256	broad.mit.edu	36	12	128388282	128388282	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:128388282G>A	uc009zyl.1	-	c.1149C>T	c.(1147-1149)ATC>ATT	p.I383I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D	383	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)												0.214674	159.482795	187.205057	79	289	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	Silent	SNP	128388282	128388282	16579	12	G	A	A	37	37	TMEM132D	A	1	1
TMEM132D	121256	broad.mit.edu	36	12	128750813	128750813	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:128750813C>A	uc009zyl.1	-	c.463G>T	c.(463-465)GAC>TAC	p.D155Y		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D	155	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)												0.166667	17.717044	25.949258	13	65	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	Missense_Mutation	SNP	128750813	128750813	16579	12	C	A	A	32	32	TMEM132D	A	3	3
TMEM132D	121256	broad.mit.edu	36	12	128751160	128751160	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:128751160C>A	uc009zyl.1	-	c.116G>T	c.(115-117)AGG>ATG	p.R39M		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D	39	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)												0.455446	125.928442	126.10412	46	55	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	Missense_Mutation	SNP	128751160	128751160	16579	12	C	A	A	24	24	TMEM132D	A	3	3
FZD10	11211	broad.mit.edu	36	12	129214833	129214833	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129214833G>A	uc001uii.1	+	c.1393G>A	c.(1393-1395)GAA>AAA	p.E465K		NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10	465	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.484127	177.466952	177.494537	61	65	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	Missense_Mutation	SNP	129214833	129214833	6380	12	G	A	A	37	37	FZD10	A	1	1
PIWIL1	9271	broad.mit.edu	36	12	129413592	129413592	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129413592C>T	uc001uik.1	+	c.2145C>T	c.(2143-2145)TAC>TAT	p.Y715Y	PIWIL1_uc001uij.1_Silent_p.Y715Y	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	715	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.449102	206.486057	206.864509	75	92	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	Silent	SNP	129413592	129413592	12381	12	C	T	T	19	19	PIWIL1	T	1	1
RIMBP2	23504	broad.mit.edu	36	12	129458259	129458259	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129458259C>T	uc001uil.2	-	c.2890G>A	c.(2890-2892)GAC>AAC	p.D964N		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	964	SH3 3.					cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)												0.40619	571.353355	575.325868	210	307	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	Missense_Mutation	SNP	129458259	129458259	13838	12	C	T	T	31	31	RIMBP2	T	1	1
RIMBP2	23504	broad.mit.edu	36	12	129478817	129478817	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129478817C>A	uc001uil.2	-	c.2221G>T	c.(2221-2223)GAC>TAC	p.D741Y		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	741						cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)												0.216931	78.971373	92.945804	41	148	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	Missense_Mutation	SNP	129478817	129478817	13838	12	C	A	A	32	32	RIMBP2	A	3	3
GPRC5A	9052	broad.mit.edu	36	12	12952634	12952634	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12952634C>T	uc001rba.1	+	c.184C>T	c.(184-186)CGA>TGA	p.R62*	GPRC5A_uc001raz.1_Nonsense_Mutation_p.R62*	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5,	62	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.141)			Tretinoin(DB00755)									0.460714	346.800153	347.180173	129	151	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Nonsense_Mutation	SNP	12952634	12952634	7000	12	C	T	T	27	27	GPRC5A	T	5	1
GPRC5D	55507	broad.mit.edu	36	12	12993783	12993783	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12993783G>A	uc001rbc.1	-	c.803C>T	c.(802-804)TCG>TTG	p.S268L		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5,	268	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.183)												0.509259	474.549557	474.573282	165	159	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.15)	Missense_Mutation	SNP	12993783	12993783	7003	12	G	A	A	37	37	GPRC5D	A	1	1
GPR133	283383	broad.mit.edu	36	12	130053764	130053764	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:130053764C>T	uc001uit.2	+	c.1108C>T	c.(1108-1110)CCC>TCC	p.P370S		NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	370	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)													0.225664	110.694935	126.352908	51	175	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	Missense_Mutation	SNP	130053764	130053764	6917	12	C	T	T	26	26	GPR133	T	2	2
HEBP1	50865	broad.mit.edu	36	12	13031394	13031394	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13031394G>A	uc001rbd.1	-	c.357C>T	c.(355-357)AGC>AGT	p.S119S	HEBP1_uc001rbf.1_Silent_p.S119S	NM_015987	NP_057071	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	119					circadian rhythm	extracellular region				breast(1)	1		Prostate(47;0.183)												0.204268	125.864699	152.485722	67	261	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.153)	Silent	SNP	13031394	13031394	7319	12	G	A	A	38	38	HEBP1	A	1	1
MMP17	4326	broad.mit.edu	36	12	130900535	130900535	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:130900535C>T	uc001ujc.1	+	c.1440C>T	c.(1438-1440)GAC>GAT	p.D480D	MMP17_uc001ujd.1_Silent_p.D396D	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	480	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)													0.22973	36.079865	41.006922	17	57	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Silent	SNP	130900535	130900535	10046	12	C	T	T	19	19	MMP17	T	1	1
EP400	57634	broad.mit.edu	36	12	131011402	131011402	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131011402G>A	uc001ujn.1	+	c.285G>A	c.(283-285)CCG>CCA	p.P95P	EP400_uc001ujl.1_Silent_p.P95P|EP400_uc001ujm.1_Silent_p.P95P|EP400_uc001ujj.1_Silent_p.P95P|EP400_uc001ujk.2_Silent_p.P95P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	95					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.428571	115.602862	116.092688	48	64	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Silent	SNP	131011402	131011402	5342	12	G	A	A	38	38	EP400	A	1	1
KIAA1467	57613	broad.mit.edu	36	12	13105945	13105945	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13105945C>T	uc001rbi.1	+	c.702C>T	c.(700-702)AGC>AGT	p.S234S	KIAA1467_uc009zhx.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	234						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)												0.245455	59.970105	66.463119	27	83	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.157)	Silent	SNP	13105945	13105945	8544	12	C	T	T	27	27	KIAA1467	T	1	1
EP400	57634	broad.mit.edu	36	12	131078619	131078619	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131078619T>G	uc001ujn.1	+	c.5214T>G	c.(5212-5214)ATT>ATG	p.I1738M	EP400_uc001ujl.1_Missense_Mutation_p.I1737M|EP400_uc001ujm.1_Missense_Mutation_p.I1657M	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1774					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.414634	153.40083	154.182795	51	72	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Missense_Mutation	SNP	131078619	131078619	5342	12	T	G	G	64	64	EP400	G	4	4
EP400	57634	broad.mit.edu	36	12	131094723	131094723	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131094723A>G	uc001ujn.1	+	c.6499A>G	c.(6499-6501)ACC>GCC	p.T2167A	EP400_uc001ujl.1_Missense_Mutation_p.T2166A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2203					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.503817	215.60433	215.605743	66	65	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Missense_Mutation	SNP	131094723	131094723	5342	12	A	G	G	10	10	EP400	G	4	4
EP400	57634	broad.mit.edu	36	12	131096337	131096337	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131096337G>A	uc001ujn.1	+	c.7139G>A	c.(7138-7140)CGC>CAC	p.R2380H	EP400_uc001ujl.1_Missense_Mutation_p.R2379H	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2416	Myb-like.				histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.464646	124.447026	124.553373	46	53	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Missense_Mutation	SNP	131096337	131096337	5342	12	G	A	A	38	38	EP400	A	1	1
EP400	57634	broad.mit.edu	36	12	131113196	131113196	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131113196G>A	uc001ujn.1	+	c.8331G>A	c.(8329-8331)ACG>ACA	p.T2777T	EP400_uc001ujl.1_Silent_p.T2776T|EP400_uc001ujp.1_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2813					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.228916	37.976561	43.576827	19	64	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Silent	SNP	131113196	131113196	5342	12	G	A	A	38	38	EP400	A	1	1
EP400	57634	broad.mit.edu	36	12	131117424	131117424	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131117424C>T	uc001ujn.1	+	c.8706C>T	c.(8704-8706)GTC>GTT	p.V2902V	EP400_uc001ujl.1_Silent_p.V2901V|EP400_uc001ujp.1_Silent_p.V112V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2938					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.402439	84.706105	85.372415	33	49	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Silent	SNP	131117424	131117424	5342	12	C	T	T	31	31	EP400	T	1	1
DDX51	317781	broad.mit.edu	36	12	131192793	131192793	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131192793G>A	uc001ujy.2	-	c.798C>T	c.(796-798)TTC>TTT	p.F266F	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	266	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)												0.406015	148.015546	149.044419	54	79	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	Silent	SNP	131192793	131192793	4540	12	G	A	A	37	37	DDX51	A	1	1
GALNT9	50614	broad.mit.edu	36	12	131251713	131251713	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131251713C>T	uc001ukc.2	-	c.1310G>A	c.(1309-1311)CGT>CAT	p.R437H	GALNT9_uc009zyr.1_Missense_Mutation_p.R211H|GALNT9_uc001ukb.1_Missense_Mutation_p.R294H|GALNT9_uc001uka.1_Missense_Mutation_p.R71H	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	437	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)				Colon(186;2147 2752 13553 41466)								0.456522	55.263624	55.339916	21	25	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	Missense_Mutation	SNP	131251713	131251713	6484	12	C	T	T	19	19	GALNT9	T	1	1
P2RX2	22953	broad.mit.edu	36	12	131708462	131708462	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131708462G>A	uc001ukk.1	+	c.1325G>A	c.(1324-1326)AGC>AAC	p.S442N	P2RX2_uc001uki.1_Intron|P2RX2_uc001ukj.1_Missense_Mutation_p.S416N|P2RX2_uc001ukl.1_Missense_Mutation_p.S392N|P2RX2_uc001ukm.1_Missense_Mutation_p.S344N|P2RX2_uc001ukn.1_Missense_Mutation_p.S324N|P2RX2_uc009zyt.1_3'UTR|P2RX2_uc001uko.1_Intron	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform D	416	Cytoplasmic (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)												0.237037	71.978528	80.481065	32	103	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	Missense_Mutation	SNP	131708462	131708462	11753	12	G	A	A	34	34	P2RX2	A	2	2
POLE	5426	broad.mit.edu	36	12	131725856	131725856	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131725856G>A	uc001uks.1	-	c.5480C>T	c.(5479-5481)TCG>TTG	p.S1827L	POLE_uc001ukq.1_Missense_Mutation_p.S37L|POLE_uc001ukr.1_Missense_Mutation_p.S631L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA polymerase epsilon catalytic subunit	1827					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)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)										OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.186441	37.583637	48.458423	22	96	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Missense_Mutation	SNP	131725856	131725856	12624	12	G	A	A	37	37	POLE	A	1	1
POLE	5426	broad.mit.edu	36	12	131751040	131751040	+	Silent	SNP	G	A	A	rs5744834	by-cluster,by-frequency,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131751040G>A	uc001uks.1	-	c.2550C>T	c.(2548-2550)ATC>ATT	p.I850I	POLE_uc009zyu.1_Silent_p.I823I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA polymerase epsilon catalytic subunit	850					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)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)												0.474026	202.683044	202.77072	73	81	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Silent	SNP	131751040	131751040	12624	12	G	A	A	37	37	POLE	A	1	1
POLE	5426	broad.mit.edu	36	12	131755150	131755150	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131755150G>A	uc001uks.1	-	c.2038C>T	c.(2038-2040)CGC>TGC	p.R680C	POLE_uc009zyu.1_Missense_Mutation_p.R653C	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA polymerase epsilon catalytic subunit	680					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)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)												0.493827	343.06313	343.071561	120	123	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Missense_Mutation	SNP	131755150	131755150	12624	12	G	A	A	37	37	POLE	A	1	1
POLE	5426	broad.mit.edu	36	12	131760362	131760362	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131760362C>A	uc001uks.1	-	c.1231G>T	c.(1231-1233)GTG>TTG	p.V411L	POLE_uc009zyu.1_Missense_Mutation_p.V384L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA polymerase epsilon catalytic subunit	411					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)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)												0.383234	327.830799	331.816207	128	206	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Missense_Mutation	SNP	131760362	131760362	12624	12	C	A	A	18	18	POLE	A	3	3
POLE	5426	broad.mit.edu	36	12	131763214	131763214	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131763214G>A	uc001uks.1	-	c.900C>T	c.(898-900)ATC>ATT	p.I300I	POLE_uc009zyu.1_Silent_p.I273I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA polymerase epsilon catalytic subunit	300					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)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)												0.416667	70.36321	70.72713	25	35	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Silent	SNP	131763214	131763214	12624	12	G	A	A	37	37	POLE	A	1	1
POLE	5426	broad.mit.edu	36	12	131766182	131766182	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131766182G>A	uc001uks.1	-	c.552C>T	c.(550-552)AGC>AGT	p.S184S	POLE_uc009zyu.1_Silent_p.S157S	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA polymerase epsilon catalytic subunit	184					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)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)												0.219124	111.477998	129.736041	55	196	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Silent	SNP	131766182	131766182	12624	12	G	A	A	38	38	POLE	A	1	1
GOLGA3	2802	broad.mit.edu	36	12	131873435	131873435	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131873435G>A	uc001ukz.1	-	c.2823C>T	c.(2821-2823)TTC>TTT	p.F941F	GOLGA3_uc009zyx.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.F941F|GOLGA3_uc001ulb.2_Silent_p.F941F	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	941	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)												0.253659	117.315263	128.602279	52	153	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	Silent	SNP	131873435	131873435	6823	12	G	A	A	37	37	GOLGA3	A	1	1
GOLGA3	2802	broad.mit.edu	36	12	131875712	131875712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131875712G>A	uc001ukz.1	-	c.2785C>T	c.(2785-2787)CGA>TGA	p.R929*	GOLGA3_uc009zyx.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Nonsense_Mutation_p.R929*|GOLGA3_uc001ulb.2_Nonsense_Mutation_p.R929*	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	929	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)												0.493671	324.364031	324.371961	117	120	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	Nonsense_Mutation	SNP	131875712	131875712	6823	12	G	A	A	38	38	GOLGA3	A	5	1
GOLGA3	2802	broad.mit.edu	36	12	131883275	131883275	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131883275C>T	uc001ukz.1	-	c.2023G>A	c.(2023-2025)GAA>AAA	p.E675K	GOLGA3_uc009zyx.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.E675K|GOLGA3_uc001ulb.2_Missense_Mutation_p.E675K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	675	Gln-rich.|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)												0.414449	594.485474	597.861402	218	308	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	Missense_Mutation	SNP	131883275	131883275	6823	12	C	T	T	30	30	GOLGA3	T	2	2
ZNF26	7574	broad.mit.edu	36	12	132097377	132097377	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:132097377A>G	uc001ull.1	+	c.839A>G	c.(838-840)CAC>CGC	p.H280R		NM_019591	NP_062537	P17031	ZNF26_HUMAN	zinc finger protein 26	280	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.24e-11)|all_epithelial(31;1.21e-08)|Lung NSC(355;0.000431)												0.445312	176.163628	176.495996	57	71	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;9.53e-09)|Epithelial(86;2.63e-07)|all cancers(50;1.14e-05)	Missense_Mutation	SNP	132097377	132097377	18393	12	A	G	G	6	6	ZNF26	G	4	4
ZNF84	7637	broad.mit.edu	36	12	132144532	132144532	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:132144532G>A	uc001ulm.2	+	c.1158G>A	c.(1156-1158)GAG>GAA	p.E386E	ZNF84_uc009zyy.1_Silent_p.E386E|ZNF84_uc009zyz.1_Silent_p.E386E|ZNF84_uc009zza.1_Silent_p.E386E	NM_003428	NP_003419	P51523	ZNF84_HUMAN	zinc finger protein 84	386	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000535)|all_epithelial(31;0.142)												0.55102	255.782946	256.115235	81	66	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05)	Silent	SNP	132144532	132144532	18789	12	G	A	A	33	33	ZNF84	A	2	2
ZNF84	7637	broad.mit.edu	36	12	132144910	132144910	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:132144910A>C	uc001ulm.2	+	c.1536A>C	c.(1534-1536)GAA>GAC	p.E512D	ZNF84_uc009zyy.1_Missense_Mutation_p.E512D|ZNF84_uc009zyz.1_Missense_Mutation_p.E512D|ZNF84_uc009zza.1_Missense_Mutation_p.E512D	NM_003428	NP_003419	P51523	ZNF84_HUMAN	zinc finger protein 84	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000535)|all_epithelial(31;0.142)												0.230769	95.928913	106.284715	36	120	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05)	Missense_Mutation	SNP	132144910	132144910	18789	12	A	C	C	1	1	ZNF84	C	4	4
ZNF140	7699	broad.mit.edu	36	12	132192450	132192450	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:132192450C>T	uc001ulo.1	+	c.514C>T	c.(514-516)CGA>TGA	p.R172*	ZNF140_uc001ulp.1_Nonsense_Mutation_p.R69*	NM_003440	NP_003431	P52738	ZN140_HUMAN	zinc finger protein 140	172	C2H2-type 1.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)												0.395385	701.301158	707.502915	257	393	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	Nonsense_Mutation	SNP	132192450	132192450	18320	12	C	T	T	31	31	ZNF140	T	5	1
ZNF10	7556	broad.mit.edu	36	12	132243236	132243236	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:132243236G>A	uc009zzb.1	+	c.1331G>A	c.(1330-1332)CGA>CAA	p.R444Q	ZNF10_uc001ulq.1_Missense_Mutation_p.R444Q|ZNF10_uc009zzc.1_Missense_Mutation_p.R310Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	444	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)												0.425455	328.456877	329.782213	117	158	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	Missense_Mutation	SNP	132243236	132243236	18303	12	G	A	A	37	37	ZNF10	A	1	1
ZNF10	7556	broad.mit.edu	36	12	132243604	132243604	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:132243604C>T	uc009zzb.1	+	c.1699C>T	c.(1699-1701)CAT>TAT	p.H567Y	ZNF10_uc001ulq.1_Missense_Mutation_p.H567Y|ZNF10_uc009zzc.1_Missense_Mutation_p.H433Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)												0.386667	150.715417	152.402937	58	92	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	Missense_Mutation	SNP	132243604	132243604	18303	12	C	T	T	29	29	ZNF10	T	2	2
ZNF268	10795	broad.mit.edu	36	12	132289130	132289130	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:132289130C>T	uc001ulr.1	+	c.785C>T	c.(784-786)TCG>TTG	p.S262L	ZNF268_uc009zzd.1_Missense_Mutation_p.S101L|ZNF268_uc001uls.1_3'UTR|ZNF268_uc009zze.1_3'UTR|ZNF268_uc009zzf.1_Missense_Mutation_p.S101L|ZNF268_uc009zzg.1_Missense_Mutation_p.S122L|ZNF268_uc009zzh.1_Missense_Mutation_p.S101L|ZNF268_uc001ult.1_Missense_Mutation_p.S101L|ZNF268_uc009zzi.1_Missense_Mutation_p.S122L|ZNF268_uc001ulu.1_Missense_Mutation_p.S262L	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268	262					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)												0.423077	60.938832	61.207712	22	30	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	Missense_Mutation	SNP	132289130	132289130	18399	12	C	T	T	31	31	ZNF268	T	1	1
C12orf36	283422	broad.mit.edu	36	12	13417595	13417595	+	Missense_Mutation	SNP	G	A	A	rs17821405	by-cluster,by-frequency,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13417595G>A	uc001rbs.1	-	c.227C>T	c.(226-228)GAG>GTG	p.E76V		NM_182558	NP_872364			hypothetical protein LOC283422												0														0.660714	426.183479	431.340678	148	76	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.198)	Missense_Mutation	SNP	13417595	13417595	1727	12	G	A	A	38	38	C12orf36	A	1	1
GRIN2B	2904	broad.mit.edu	36	12	13607518	13607518	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13607518G>A	uc001rbt.2	-	c.3921C>T	c.(3919-3921)TTC>TTT	p.F1307F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1307	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)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.215488	126.212251	148.448521	64	233	GG		KEEP	---	---	---	---	capture			Silent	SNP	13607518	13607518	7059	12	G	A	A	37	37	GRIN2B	A	1	1
GRIN2B	2904	broad.mit.edu	36	12	13608106	13608106	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13608106G>A	uc001rbt.2	-	c.3333C>T	c.(3331-3333)CGC>CGT	p.R1111R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1111	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)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.231788	73.198672	83.1171	35	116	GG		KEEP	---	---	---	---	capture			Silent	SNP	13608106	13608106	7059	12	G	A	A	42	42	GRIN2B	A	2	2
GRIN2B	2904	broad.mit.edu	36	12	13797715	13797715	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13797715C>T	uc001rbt.2	-	c.813G>A	c.(811-813)GCG>GCA	p.A271A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	271	Extracellular (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)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.188235	67.025341	82.473832	32	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	13797715	13797715	7059	12	C	T	T	23	23	GRIN2B	T	1	1
ATF7IP	55729	broad.mit.edu	36	12	14469664	14469664	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14469664G>A	uc001rbw.1	+	c.1548G>A	c.(1546-1548)ACG>ACA	p.T516T	ATF7IP_uc001rbu.2_Silent_p.T516T|ATF7IP_uc001rbv.1_Silent_p.T516T|ATF7IP_uc001rbx.1_Silent_p.T516T|ATF7IP_uc001rby.2_Silent_p.T516T|ATF7IP_uc001rbz.1_Silent_p.T516T|ATF7IP_uc001rca.1_Silent_p.T516T|ATF7IP_uc001rcb.2_Silent_p.T127T	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	516	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5														0.2	58.557991	71.12248	30	120	GG		KEEP	---	---	---	---	capture			Silent	SNP	14469664	14469664	1106	12	G	A	A	40	40	ATF7IP	A	1	1
ATF7IP	55729	broad.mit.edu	36	12	14542253	14542253	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14542253C>A	uc001rbw.1	+	c.3792C>A	c.(3790-3792)ATC>ATA	p.I1264I	ATF7IP_uc001rbx.1_Silent_p.I1263I|ATF7IP_uc001rby.2_Silent_p.I1264I|ATF7IP_uc001rca.1_Silent_p.I1264I	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1264	Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5														0.434783	753.293411	755.69797	280	364	CC		KEEP	---	---	---	---	capture			Silent	SNP	14542253	14542253	1106	12	C	A	A	32	32	ATF7IP	A	3	3
GUCY2C	2984	broad.mit.edu	36	12	14666212	14666212	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14666212G>T	uc001rcd.1	-	c.2595C>A	c.(2593-2595)GTC>GTA	p.V865V		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C	865	Cytoplasmic (Potential).|Guanylate cyclase.				intracellular signal transduction|protein phosphorylation|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(1)	5										889				0.119718	12.661068	32.838452	17	125	GG		KEEP	---	---	---	---	capture			Silent	SNP	14666212	14666212	7176	12	G	T	T	33	33	GUCY2C	T	3	3
GUCY2C	2984	broad.mit.edu	36	12	14730393	14730393	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14730393G>T	uc001rcd.1	-	c.364C>A	c.(364-366)CCC>ACC	p.P122T	GUCY2C_uc009zhz.1_Missense_Mutation_p.P122T	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C	122	Extracellular (Potential).				intracellular signal transduction|protein phosphorylation|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(1)	5										889				0.150685	17.07299	25.613516	11	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14730393	14730393	7176	12	G	T	T	42	42	GUCY2C	T	3	3
WBP11	51729	broad.mit.edu	36	12	14831623	14831623	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14831623G>A	uc001rci.1	-	c.1569C>T	c.(1567-1569)TTC>TTT	p.F523F		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	523	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2														0.268293	255.829349	275.730702	110	300	GG		KEEP	---	---	---	---	capture			Silent	SNP	14831623	14831623	17830	12	G	A	A	41	41	WBP11	A	2	2
C12orf60	144608	broad.mit.edu	36	12	14867219	14867219	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14867219C>A	uc001rcj.2	+	c.83C>A	c.(82-84)TCT>TAT	p.S28Y	C12orf60_uc009zic.1_Missense_Mutation_p.S28Y	NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	28										ovary(1)|central_nervous_system(1)	2														0.165803	49.256899	69.741089	32	161	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14867219	14867219	1747	12	C	A	A	32	32	C12orf60	A	3	3
ART4	420	broad.mit.edu	36	12	14885237	14885237	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14885237C>A	uc001rcl.1	-	c.262G>T	c.(262-264)GAA>TAA	p.E88*	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Nonsense_Mutation_p.E88*	NM_021071	NP_066549	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 precursor	88					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity				0														0.439474	446.720097	447.940963	167	213	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	14885237	14885237	1017	12	C	A	A	32	32	ART4	A	5	3
ERP27	121506	broad.mit.edu	36	12	14959700	14959700	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14959700C>T	uc001rco.1	-	c.764G>A	c.(763-765)GGA>GAA	p.G255E		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa	255						endoplasmic reticulum lumen		p.F252_G255del(1)		breast(1)	1														0.441441	142.356248	142.68849	49	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14959700	14959700	5434	12	C	T	T	30	30	ERP27	T	2	2
ERP27	121506	broad.mit.edu	36	12	14982707	14982707	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14982707C>T	uc001rco.1	-	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa	1						endoplasmic reticulum lumen				breast(1)	1														0.333333	26.610679	27.424161	11	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14982707	14982707	5434	12	C	T	T	21	21	ERP27	T	2	2
ARHGDIB	397	broad.mit.edu	36	12	14992142	14992142	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14992142C>T	uc001rcq.1	-	c.274G>A	c.(274-276)GAA>AAA	p.E92K	ARHGDIB_uc001rcp.1_Non-coding_Transcript	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	92					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0										108				0.19403	81.800049	99.364486	39	162	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14992142	14992142	905	12	C	T	T	30	30	ARHGDIB	T	2	2
ARHGDIB	397	broad.mit.edu	36	12	14994011	14994011	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14994011T>C	uc001rcq.1	-	c.257A>G	c.(256-258)GAC>GGC	p.D86G	ARHGDIB_uc001rcp.1_5'Flank	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	86					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0										108				0.210046	109.637302	126.674918	46	173	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14994011	14994011	905	12	T	C	C	58	58	ARHGDIB	C	4	4
PTPRO	5800	broad.mit.edu	36	12	15546176	15546176	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:15546176C>A	uc001rcv.1	+	c.1017C>A	c.(1015-1017)TCC>TCA	p.S339S	PTPRO_uc001rcu.1_Silent_p.S339S|PTPRO_uc001rcw.1_Silent_p.S339S	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	339	Fibronectin type-III 4.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Hepatocellular(102;0.244)												0.201117	70.389171	85.263593	36	143	CC		KEEP	---	---	---	---	capture			Silent	SNP	15546176	15546176	13266	12	C	A	A	24	24	PTPRO	A	3	3
EPS8	2059	broad.mit.edu	36	12	15710063	15710063	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:15710063C>T	uc009zif.1	-	c.630G>A	c.(628-630)CCG>CCA	p.P210P	EPS8_uc001rdb.1_Silent_p.P210P|EPS8_uc009zig.1_Intron	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	210					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)	2		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)												0.172043	49.804611	68.710675	32	154	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	Silent	SNP	15710063	15710063	5387	12	C	T	T	27	27	EPS8	T	1	1
EPS8	2059	broad.mit.edu	36	12	15713873	15713873	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:15713873C>A	uc009zif.1	-	c.358G>T	c.(358-360)GAA>TAA	p.E120*	EPS8_uc001rdb.1_Nonsense_Mutation_p.E120*|EPS8_uc009zig.1_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	120	PH; first part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)	2		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)												0.166667	39.539566	55.991839	26	130	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	Nonsense_Mutation	SNP	15713873	15713873	5387	12	C	A	A	32	32	EPS8	A	5	3
EPS8	2059	broad.mit.edu	36	12	15715114	15715114	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:15715114C>T	uc009zif.1	-	c.147G>A	c.(145-147)AAG>AAA	p.K49K	EPS8_uc001rdb.1_Silent_p.K49K|EPS8_uc009zig.1_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	49					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)	2		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)												0.217647	84.153525	96.691337	37	133	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	Silent	SNP	15715114	15715114	5387	12	C	T	T	32	32	EPS8	T	2	2
FBXL14	144699	broad.mit.edu	36	12	1573330	1573330	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:1573330C>T	uc001qjh.1	-	c.164G>A	c.(163-165)CGC>CAC	p.R55H	WNT5B_uc009zdq.1_Intron|FBXL14_uc001qji.2_5'Flank	NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	55						cytoplasm				ovary(1)	1	Ovarian(42;0.107)													0.222222	12.236897	14.153145	6	21	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		Missense_Mutation	SNP	1573330	1573330	5947	12	C	T	T	27	27	FBXL14	T	1	1
DERA	51071	broad.mit.edu	36	12	16002498	16002498	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:16002498G>A	uc001rde.1	+	c.239G>A	c.(238-240)CGG>CAG	p.R80Q		NM_015954	NP_057038	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase-like	80					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding				0		Hepatocellular(102;0.121)												0.5	58.823754	58.823754	19	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16002498	16002498	4624	12	G	A	A	39	39	DERA	A	1	1
DERA	51071	broad.mit.edu	36	12	16080471	16080471	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:16080471G>T	uc001rde.1	+	c.789G>T	c.(787-789)AAG>AAT	p.K263N		NM_015954	NP_057038	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase-like	263					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding				0		Hepatocellular(102;0.121)												0.192308	36.530385	45.7365	20	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16080471	16080471	4624	12	G	T	T	35	35	DERA	T	3	3
MGST1	4257	broad.mit.edu	36	12	16401870	16401870	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:16401870G>A	uc001rdf.1	+	c.191G>A	c.(190-192)CGA>CAA	p.R64Q	MGST1_uc001rdg.1_Missense_Mutation_p.R64Q|MGST1_uc009zih.1_Non-coding_Transcript|MGST1_uc001rdh.1_Missense_Mutation_p.R64Q|MGST1_uc001rdi.1_Missense_Mutation_p.R64Q	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	64	Helical; (By similarity).				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)									0.428571	93.159406	93.502596	33	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16401870	16401870	9950	12	G	A	A	37	37	MGST1	A	1	1
LRTM2	654429	broad.mit.edu	36	12	1810745	1810745	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:1810745G>A	uc001qjt.1	+	c.451G>A	c.(451-453)GGC>AGC	p.G151S	CACNA2D4_uc001qjp.1_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.1_Missense_Mutation_p.G151S|LRTM2_uc001qjv.1_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains	151	LRR 4.|Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)													0.27044	109.859478	117.415151	43	116	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		Missense_Mutation	SNP	1810745	1810745	9421	12	G	A	A	39	39	LRTM2	A	1	1
RERGL	79785	broad.mit.edu	36	12	18125574	18125574	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18125574G>A	uc001rdq.1	-	c.436C>T	c.(436-438)CGA>TGA	p.R146*	RERGL_uc001rdr.1_Nonsense_Mutation_p.R145*	NM_024730	NP_079006	Q9H628	RERGL_HUMAN	RERG/RAS-like	146	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity				0														0.18	76.185759	95.440799	36	164	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	18125574	18125574	13702	12	G	A	A	39	39	RERGL	A	5	1
PIK3C2G	5288	broad.mit.edu	36	12	18390843	18390843	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18390843C>T	uc001rds.1	+	c.1431C>T	c.(1429-1431)GGC>GGT	p.G477G	PIK3C2G_uc001rdt.1_Silent_p.G477G	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2, gamma	477					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.236559	92.294478	104.107704	44	142	CC		KEEP	---	---	---	---	capture			Silent	SNP	18390843	18390843	12335	12	C	T	T	28	28	PIK3C2G	T	2	2
SLC6A12	6539	broad.mit.edu	36	12	184123	184123	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:184123C>A	uc001qhz.2	-	c.217G>T	c.(217-219)GCC>TCC	p.A73S	SLC6A12_uc001qia.2_Missense_Mutation_p.A73S|SLC6A12_uc001qib.2_Missense_Mutation_p.A73S|SLC6A12_uc009zdh.1_Missense_Mutation_p.A73S|SLC6A12_uc009zdi.1_Non-coding_Transcript	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	73	Helical; Name=2; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)													0.1875	21.483224	27.322128	12	52	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		Missense_Mutation	SNP	184123	184123	15172	12	C	A	A	28	28	SLC6A12	A	3	3
PIK3C2G	5288	broad.mit.edu	36	12	18547562	18547562	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18547562A>C	uc001rds.1	+	c.2974A>C	c.(2974-2976)AAT>CAT	p.N992H	PIK3C2G_uc001rdt.1_Missense_Mutation_p.N992H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2, gamma	992	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.406593	126.865049	127.556875	37	54	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18547562	18547562	12335	12	A	C	C	1	1	PIK3C2G	C	4	4
PIK3C2G	5288	broad.mit.edu	36	12	18549661	18549661	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18549661A>G	uc001rds.1	+	c.3199A>G	c.(3199-3201)AGG>GGG	p.R1067G	PIK3C2G_uc001rdt.1_Missense_Mutation_p.R1067G	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2, gamma	1067	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.181818	15.630612	18.768198	6	27	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18549661	18549661	12335	12	A	G	G	3	3	PIK3C2G	G	4	4
PIK3C2G	5288	broad.mit.edu	36	12	18582458	18582458	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18582458G>A	uc001rds.1	+	c.3302G>A	c.(3301-3303)CGT>CAT	p.R1101H	PIK3C2G_uc001rdt.1_Missense_Mutation_p.R1101H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2, gamma	1101	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.25974	93.725273	101.778972	40	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18582458	18582458	12335	12	G	A	A	40	40	PIK3C2G	A	1	1
CAPZA3	93661	broad.mit.edu	36	12	18782545	18782545	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18782545G>A	uc001rdy.1	+	c.76G>A	c.(76-78)GAA>AAA	p.E26K	PLCZ1_uc001rdv.2_5'Flank|PLCZ1_uc001rdw.2_5'Flank|PLCZ1_uc009zim.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	capping protein alpha 3	26					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			ovary(1)|central_nervous_system(1)	2	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)												0.233696	97.429772	109.374798	43	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18782545	18782545	2761	12	G	A	A	41	41	CAPZA3	A	2	2
CACNA2D4	93589	broad.mit.edu	36	12	1892534	1892534	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:1892534G>A	uc001qjp.1	-	c.342C>T	c.(340-342)ATC>ATT	p.I114I	CACNA2D4_uc009zds.1_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.I114I	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	114	Extracellular (Potential).				response to stimulus|visual perception	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)				Colon(2;101 179 21030 23310 28141)								0.197531	31.750467	38.65548	16	65	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	Silent	SNP	1892534	1892534	2667	12	G	A	A	37	37	CACNA2D4	A	1	1
PLEKHA5	54477	broad.mit.edu	36	12	19327508	19327508	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:19327508A>G	uc001rea.1	+	c.1323A>G	c.(1321-1323)AGA>AGG	p.R441R	PLEKHA5_uc001reb.1_Silent_p.R441R|PLEKHA5_uc009zin.1_Silent_p.R199R|PLEKHA5_uc001rec.1_Silent_p.R129R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	441							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					Pancreas(196;329 2193 11246 14234 19524)				873				0.1625	29.526729	38.186239	13	67	AA		KEEP	---	---	---	---	capture			Silent	SNP	19327508	19327508	12485	12	A	G	G	9	9	PLEKHA5	G	4	4
SLC6A13	6540	broad.mit.edu	36	12	203421	203421	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:203421C>A	uc001qic.1	-	c.1309G>T	c.(1309-1311)GAG>TAG	p.E437*	SLC6A13_uc009zdj.1_Nonsense_Mutation_p.E427*	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	437	Helical; Name=9; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)													0.219355	67.153474	78.413385	34	121	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		Nonsense_Mutation	SNP	203421	203421	15173	12	C	A	A	32	32	SLC6A13	A	5	3
SLCO1C1	53919	broad.mit.edu	36	12	20759449	20759449	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:20759449T>C	uc001rej.2	+	c.639T>C	c.(637-639)GAT>GAC	p.D213D	SLCO1C1_uc009zip.1_Silent_p.D47D|SLCO1C1_uc001rei.1_Silent_p.D213D	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	213	Helical; Name=4; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)	6	Esophageal squamous(101;0.149)													0.422619	413.502998	415.255181	142	194	TT		KEEP	---	---	---	---	capture			Silent	SNP	20759449	20759449	15222	12	T	C	C	51	51	SLCO1C1	C	4	4
SLCO1B3	28234	broad.mit.edu	36	12	20919569	20919569	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:20919569A>C	uc001rek.1	+	c.861A>C	c.(859-861)CAA>CAC	p.Q287H	SLCO1B3_uc001rem.1_Missense_Mutation_p.Q287H|LST-3TM12_uc001ren.1_Intron|SLCO1B3_uc001rel.1_Missense_Mutation_p.Q287H|SLCO1B3_uc001reo.1_Missense_Mutation_p.Q112H	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	287	Cytoplasmic (Potential).				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)	3	Esophageal squamous(101;0.149)													0.177143	75.626756	92.801125	31	144	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20919569	20919569	15221	12	A	C	C	1	1	SLCO1B3	C	4	4
SLCO1B3	28234	broad.mit.edu	36	12	20927760	20927760	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:20927760T>C	uc001rek.1	+	c.1639T>C	c.(1639-1641)TTC>CTC	p.F547L	SLCO1B3_uc001rem.1_Missense_Mutation_p.F547L|LST-3TM12_uc001ren.1_Intron|SLCO1B3_uc001rel.1_Missense_Mutation_p.F547L|SLCO1B3_uc001reo.1_Missense_Mutation_p.F372L	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	547	Helical; Name=10; (Potential).				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)	3	Esophageal squamous(101;0.149)													0.485106	395.551942	395.596747	114	121	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20927760	20927760	15221	12	T	C	C	60	60	SLCO1B3	C	4	4
SLCO1B3	28234	broad.mit.edu	36	12	20945665	20945665	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:20945665T>G	uc001rek.1	+	c.1862T>G	c.(1861-1863)TTT>TGT	p.F621C	SLCO1B3_uc001rem.1_Missense_Mutation_p.F621C|LST-3TM12_uc001ren.1_Intron|SLCO1B3_uc001rel.1_Missense_Mutation_p.F621C|SLCO1B3_uc001reo.1_Missense_Mutation_p.F446C	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	621	Extracellular (Potential).				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)	3	Esophageal squamous(101;0.149)													0.255319	166.392891	179.151965	60	175	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20945665	20945665	15221	12	T	G	G	64	64	SLCO1B3	G	4	4
LST-3TM12	338821	broad.mit.edu	36	12	21067194	21067194	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21067194T>G	uc001ren.1	+	c.625T>G	c.(625-627)TTA>GTA	p.L209V	SLCO1B3_uc001rem.1_Intron|LST-3TM12_uc001rep.1_Missense_Mutation_p.L162V	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	162						membrane	transporter activity				0														0.508772	193.451381	193.459001	58	56	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21067194	21067194	9442	12	T	G	G	64	64	LST-3TM12	G	4	4
LST-3TM12	338821	broad.mit.edu	36	12	21087625	21087625	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21087625C>A	uc001ren.1	+	c.818C>A	c.(817-819)TCT>TAT	p.S273Y	SLCO1B3_uc001rem.1_Intron|LST-3TM12_uc001rep.1_Missense_Mutation_p.S226Y	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	226						membrane	transporter activity				0														0.258216	118.058204	129.403569	55	158	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21087625	21087625	9442	12	C	A	A	32	32	LST-3TM12	A	3	3
SLCO1B1	10599	broad.mit.edu	36	12	21216918	21216918	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21216918C>A	uc001req.2	+	c.152C>A	c.(151-153)TCC>TAC	p.S51Y		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	51	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)									0.258065	125.08865	136.608348	56	161	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21216918	21216918	15220	12	C	A	A	30	30	SLCO1B1	A	3	3
SLCO1B1	10599	broad.mit.edu	36	12	21244711	21244711	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21244711T>G	uc001req.2	+	c.973T>G	c.(973-975)TTT>GTT	p.F325V		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	325	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)									0.310811	72.502616	74.858836	23	51	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21244711	21244711	15220	12	T	G	G	64	64	SLCO1B1	G	4	4
IAPP	3375	broad.mit.edu	36	12	21422535	21422535	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21422535C>A	uc001rev.1	+	c.178C>A	c.(178-180)CTC>ATC	p.L60I	SLCO1A2_uc001res.1_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	islet amyloid polypeptide precursor	60					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity				0					Perindopril(DB00790)									0.178571	66.650312	88.453956	40	184	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21422535	21422535	7772	12	C	A	A	32	32	IAPP	A	3	3
PYROXD1	79912	broad.mit.edu	36	12	21511705	21511705	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21511705A>G	uc001rew.1	+	c.1140A>G	c.(1138-1140)AGA>AGG	p.R380R	PYROXD1_uc009ziq.1_Silent_p.R121R|PYROXD1_uc009zir.1_Silent_p.R86R	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	380					oxidation-reduction process		oxidoreductase activity			ovary(1)	1														0.378601	297.257161	300.393502	92	151	AA		KEEP	---	---	---	---	capture			Silent	SNP	21511705	21511705	13324	12	A	G	G	10	10	PYROXD1	G	4	4
C12orf39	80763	broad.mit.edu	36	12	21571120	21571120	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21571120C>A	uc001rfa.1	+	c.40C>A	c.(40-42)CTT>ATT	p.L14I	C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	hypothetical protein LOC80763	14						extracellular region|nucleus|transport vesicle					0														0.421986	319.447499	320.951143	119	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21571120	21571120	1728	12	C	A	A	32	32	C12orf39	A	3	3
GYS2	2998	broad.mit.edu	36	12	21581198	21581198	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21581198A>G	uc001rfb.1	-	c.2069T>C	c.(2068-2070)GTT>GCT	p.V690A		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	690					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity				0						Colon(149;9 1820 3690 10544 50424)								0.221774	153.799195	171.455979	55	193	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21581198	21581198	7193	12	A	G	G	2	2	GYS2	G	4	4
GYS2	2998	broad.mit.edu	36	12	21618407	21618407	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21618407C>T	uc001rfb.1	-	c.616G>A	c.(616-618)GCT>ACT	p.A206T		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	206					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity				0						Colon(149;9 1820 3690 10544 50424)								0.460526	192.827068	193.033641	70	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21618407	21618407	7193	12	C	T	T	27	27	GYS2	T	1	1
GYS2	2998	broad.mit.edu	36	12	21624602	21624602	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21624602C>T	uc001rfb.1	-	c.244G>A	c.(244-246)GAA>AAA	p.E82K		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	82					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity				0						Colon(149;9 1820 3690 10544 50424)								0.445946	452.689415	453.636073	165	205	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21624602	21624602	7193	12	C	T	T	29	29	GYS2	T	2	2
ABCC9	10060	broad.mit.edu	36	12	21889949	21889949	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21889949C>T	uc001rfh.1	-	c.2951G>A	c.(2950-2952)CGC>CAC	p.R984H	ABCC9_uc001rfi.1_Missense_Mutation_p.R984H|ABCC9_uc001rfj.1_Missense_Mutation_p.R948H	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	984	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.412587	157.790289	158.745897	59	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21889949	21889949	60	12	C	T	T	27	27	ABCC9	T	1	1
SLC6A13	6540	broad.mit.edu	36	12	223149	223149	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:223149C>A	uc001qic.1	-	c.294G>T	c.(292-294)CAG>CAT	p.Q98H	SLC6A13_uc009zdj.1_Missense_Mutation_p.Q98H	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	98					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)													0.491803	169.58402	169.591387	60	62	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		Missense_Mutation	SNP	223149	223149	15173	12	C	A	A	24	24	SLC6A13	A	3	3
SOX5	6660	broad.mit.edu	36	12	23578668	23578668	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:23578668C>T	uc001rfw.1	-	c.2044G>A	c.(2044-2046)GCC>ACC	p.A682T	SOX5_uc001rfx.1_Missense_Mutation_p.A669T|SOX5_uc001rfy.1_Missense_Mutation_p.A561T|SOX5_uc001rfv.1_Missense_Mutation_p.A296T	NM_006940	NP_694534	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	682					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6														0.428571	156.690033	157.272309	57	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23578668	23578668	15454	12	C	T	T	27	27	SOX5	T	1	1
BCAT1	586	broad.mit.edu	36	12	24894039	24894039	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:24894039G>A	uc001rgd.2	-	c.622C>T	c.(622-624)CCC>TCC	p.P208S	BCAT1_uc001rgc.1_Missense_Mutation_p.P207S|BCAT1_uc001rge.2_Missense_Mutation_p.P147S	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	208					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				0	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)									0.202492	134.988602	161.386751	65	256	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24894039	24894039	1375	12	G	A	A	41	41	BCAT1	A	2	2
LRMP	4033	broad.mit.edu	36	12	25123468	25123468	+	Nonsense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:25123468T>A	uc001rgh.1	+	c.48T>A	c.(46-48)TGT>TGA	p.C16*	LRMP_uc001rgg.1_Non-coding_Transcript|LRMP_uc001rgi.1_Non-coding_Transcript	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	72	Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)													0.433333	471.885977	473.400202	169	221	TT		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	25123468	25123468	9323	12	T	A	A	58	58	LRMP	A	5	4
LRMP	4033	broad.mit.edu	36	12	25152213	25152213	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:25152213C>A	uc001rgh.1	+	c.1452C>A	c.(1450-1452)ATC>ATA	p.I484I	LRMP_uc001rgi.1_Non-coding_Transcript	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	540	Lumenal (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)													0.221014	121.114212	140.904655	61	215	CC		KEEP	---	---	---	---	capture			Silent	SNP	25152213	25152213	9323	12	C	A	A	32	32	LRMP	A	3	3
CASC1	55259	broad.mit.edu	36	12	25154414	25154414	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:25154414G>A	uc001rgk.1	-	c.1807C>T	c.(1807-1809)CGA>TGA	p.R603*	CASC1_uc001rgm.2_Nonsense_Mutation_p.R661*|CASC1_uc001rgl.1_Nonsense_Mutation_p.R597*|CASC1_uc001rgj.1_Nonsense_Mutation_p.R557*	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform a	597										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)													0.46988	224.126732	224.258505	78	88	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		Nonsense_Mutation	SNP	25154414	25154414	2779	12	G	A	A	37	37	CASC1	A	5	1
CASC1	55259	broad.mit.edu	36	12	25188858	25188858	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:25188858G>A	uc001rgk.1	-	c.710C>T	c.(709-711)TCT>TTT	p.S237F	CASC1_uc001rgm.2_Missense_Mutation_p.S295F|CASC1_uc001rgl.1_Missense_Mutation_p.S231F|CASC1_uc001rgj.1_Missense_Mutation_p.S191F	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform a	231										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)													0.420455	105.756582	106.243261	37	51	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		Missense_Mutation	SNP	25188858	25188858	2779	12	G	A	A	33	33	CASC1	A	2	2
IFLTD1	160492	broad.mit.edu	36	12	25571121	25571121	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:25571121A>G	uc001rgs.1	-	c.464T>C	c.(463-465)GTC>GCC	p.V155A	IFLTD1_uc001rgt.1_Missense_Mutation_p.V58A|IFLTD1_uc009zjc.1_Missense_Mutation_p.V176A	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	155						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)													0.192308	36.484445	43.376392	15	63	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25571121	25571121	7831	12	A	G	G	10	10	IFLTD1	G	4	4
ITPR2	3709	broad.mit.edu	36	12	26459609	26459609	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26459609G>A	uc001rhg.1	-	c.7200C>T	c.(7198-7200)GTC>GTT	p.V2400V	ITPR2_uc009zjg.1_Silent_p.V551V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2400	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.377863	272.475073	275.898741	99	163	GG		KEEP	---	---	---	---	capture			Silent	SNP	26459609	26459609	8225	12	G	A	A	41	41	ITPR2	A	2	2
ITPR2	3709	broad.mit.edu	36	12	26472243	26472243	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26472243G>A	uc001rhg.1	-	c.6815C>T	c.(6814-6816)GCG>GTG	p.A2272V	ITPR2_uc009zjg.1_Missense_Mutation_p.A423V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2272	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.179245	32.561948	42.826578	19	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26472243	26472243	8225	12	G	A	A	38	38	ITPR2	A	1	1
ITPR2	3709	broad.mit.edu	36	12	26528097	26528097	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26528097T>G	uc001rhg.1	-	c.5813A>C	c.(5812-5814)AAC>ACC	p.N1938T	ITPR2_uc009zjg.1_Missense_Mutation_p.N89T	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1938	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.241667	150.523518	165.140942	58	182	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26528097	26528097	8225	12	T	G	G	60	60	ITPR2	G	4	4
ITPR2	3709	broad.mit.edu	36	12	26530400	26530400	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26530400G>A	uc001rhg.1	-	c.5715C>T	c.(5713-5715)TCC>TCT	p.S1905S	ITPR2_uc009zjg.1_Silent_p.S56S	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1905	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)								p.S1905S(HCC1359-Tumor)	1600				0.189944	138.131682	170.290078	68	290	GG		KEEP	---	---	---	---	capture			Silent	SNP	26530400	26530400	8225	12	G	A	A	39	39	ITPR2	A	1	1
ITPR2	3709	broad.mit.edu	36	12	26530503	26530503	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26530503G>T	uc001rhg.1	-	c.5612C>A	c.(5611-5613)TCT>TAT	p.S1871Y	ITPR2_uc009zjg.1_Missense_Mutation_p.S22Y	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1871	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.198556	102.148852	125.599385	55	222	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26530503	26530503	8225	12	G	T	T	33	33	ITPR2	T	3	3
ITPR2	3709	broad.mit.edu	36	12	26606144	26606144	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26606144G>A	uc001rhg.1	-	c.4639C>T	c.(4639-4641)CGT>TGT	p.R1547C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1547	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.1875	39.20283	49.452698	21	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26606144	26606144	8225	12	G	A	A	37	37	ITPR2	A	1	1
ITPR2	3709	broad.mit.edu	36	12	26641235	26641235	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26641235C>A	uc001rhg.1	-	c.4102G>T	c.(4102-4104)GAG>TAG	p.E1368*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1368	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.226415	117.068033	135.290651	60	205	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	26641235	26641235	8225	12	C	A	A	29	29	ITPR2	A	5	3
ITPR2	3709	broad.mit.edu	36	12	26644222	26644222	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26644222G>T	uc001rhg.1	-	c.3766C>A	c.(3766-3768)CTT>ATT	p.L1256I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1256	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.533835	199.312359	199.443191	71	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26644222	26644222	8225	12	G	T	T	33	33	ITPR2	T	3	3
ITPR2	3709	broad.mit.edu	36	12	26700614	26700614	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26700614G>A	uc001rhg.1	-	c.2327C>T	c.(2326-2328)GCG>GTG	p.A776V		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	776	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.152074	47.543668	72.691569	33	184	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26700614	26700614	8225	12	G	A	A	38	38	ITPR2	A	1	1
CACNA1C	775	broad.mit.edu	36	12	2670554	2670554	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2670554C>A	uc009zdu.1	+	c.6594C>A	c.(6592-6594)GGC>GGA	p.G2198G	CACNA1C_uc009zdv.1_Silent_p.G2112G|CACNA1C_uc001qkb.2_Silent_p.G2115G|CACNA1C_uc001qkc.2_Silent_p.G2134G|CACNA1C_uc001qke.2_Silent_p.G2104G|CACNA1C_uc001qkf.2_Silent_p.G2123G|CACNA1C_uc001qjz.2_Silent_p.G2115G|CACNA1C_uc001qkd.2_Silent_p.G2134G|CACNA1C_uc001qkg.2_Silent_p.G2121G|CACNA1C_uc009zdw.1_Silent_p.G2156G|CACNA1C_uc001qkh.2_Silent_p.G2123G|CACNA1C_uc001qkl.2_Silent_p.G2163G|CACNA1C_uc001qkn.2_Silent_p.G2115G|CACNA1C_uc001qko.2_Silent_p.G2135G|CACNA1C_uc001qkp.2_Silent_p.G2115G|CACNA1C_uc001qkr.2_Silent_p.G2132G|CACNA1C_uc001qku.2_Silent_p.G2150G|CACNA1C_uc001qkq.2_Silent_p.G2143G|CACNA1C_uc001qks.2_Silent_p.G2115G|CACNA1C_uc001qkt.2_Silent_p.G2134G|CACNA1C_uc001qki.1_Silent_p.G1922G|CACNA1C_uc001qkj.1_Silent_p.G1886G|CACNA1C_uc001qkk.1_Silent_p.G1851G|CACNA1C_uc001qkm.1_Silent_p.G1911G|CACNA1C_uc001qky.1_Silent_p.G433G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2198	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					Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.296296	17.071294	18.088538	8	19	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Silent	SNP	2670554	2670554	2656	12	C	A	A	28	28	CACNA1C	A	3	3
C12orf11	55726	broad.mit.edu	36	12	26960353	26960353	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26960353C>T	uc001rhk.2	-	c.1097G>A	c.(1096-1098)CGA>CAA	p.R366Q	C12orf11_uc001rhj.2_5'UTR	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	366					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)													0.385542	86.678306	87.63196	32	51	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26960353	26960353	1719	12	C	T	T	31	31	C12orf11	T	1	1
C12orf11	55726	broad.mit.edu	36	12	26980813	26980813	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26980813C>A	uc001rhk.2	-	c.191G>T	c.(190-192)AGA>ATA	p.R64I	FGFR1OP2_uc001rhl.2_5'Flank|FGFR1OP2_uc001rhm.1_5'Flank|FGFR1OP2_uc001rhn.1_5'Flank	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	64					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)													0.393939	135.355294	136.659777	52	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26980813	26980813	1719	12	C	A	A	32	32	C12orf11	A	3	3
KDM5A	5927	broad.mit.edu	36	12	272370	272370	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:272370C>T	uc001qif.1	-	c.4682G>A	c.(4681-4683)AGA>AAA	p.R1561K	KDM5A_uc001qie.1_Missense_Mutation_p.R1566K	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1561	Lys-rich.				chromatin modification|multicellular organismal development|oxidation-reduction process|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			skin(2)|ovary(1)	3										958				0.176887	149.468566	191.345739	75	349	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	272370	272370	8439	12	C	T	T	32	32	KDM5A	T	2	2
STK38L	23012	broad.mit.edu	36	12	27341933	27341933	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:27341933G>A	uc001rhr.1	+	c.13G>A	c.(13-15)GCA>ACA	p.A5T	STK38L_uc001rhs.1_Non-coding_Transcript	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	5					intracellular protein kinase cascade|protein phosphorylation|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)									133				0.248649	108.66539	119.293551	46	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27341933	27341933	15824	12	G	A	A	42	42	STK38L	A	2	2
ARNTL2	56938	broad.mit.edu	36	12	27414345	27414345	+	Nonsense_Mutation	SNP	G	T	T	rs55752721	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:27414345G>T	uc001rht.1	+	c.199G>T	c.(199-201)GAA>TAA	p.E67*	ARNTL2_uc001rhu.1_Nonsense_Mutation_p.E67*|ARNTL2_uc009zji.1_Intron|ARNTL2_uc001rhv.1_Intron|ARNTL2_uc001rhw.1_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	67					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription regulator activity			ovary(1)	1	Colorectal(261;0.0847)|Lung SC(9;0.184)													0.241107	133.429451	148.917158	61	192	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27414345	27414345	986	12	G	T	T	33	33	ARNTL2	T	5	3
PPFIBP1	8496	broad.mit.edu	36	12	27700846	27700846	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:27700846G>T	uc001ric.1	+	c.820G>T	c.(820-822)GAA>TAA	p.E274*	PPFIBP1_uc001rib.1_Nonsense_Mutation_p.E243*|PPFIBP1_uc001ria.2_Nonsense_Mutation_p.E243*|PPFIBP1_uc001rid.1_Nonsense_Mutation_p.E121*|PPFIBP1_uc001rie.1_5'Flank	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	274	Potential.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)													0.184049	52.738521	68.021754	30	133	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27700846	27700846	12743	12	G	T	T	33	33	PPFIBP1	T	5	3
MRPS35	60488	broad.mit.edu	36	12	27768282	27768282	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:27768282G>A	uc001rih.1	+	c.418G>A	c.(418-420)GAC>AAC	p.D140N	MRPS35_uc001rii.1_Missense_Mutation_p.D140N	NM_021821	NP_068593	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	140					DNA damage response, detection of DNA damage|peptide biosynthetic process	mitochondrial small ribosomal subunit					0	Lung SC(9;0.0873)													0.495495	151.753585	151.754896	55	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27768282	27768282	10237	12	G	A	A	45	45	MRPS35	A	2	2
ITFG2	55846	broad.mit.edu	36	12	2797650	2797650	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2797650G>T	uc001qlb.1	+	c.352G>T	c.(352-354)GTC>TTC	p.V118F	ITFG2_uc001qla.1_Missense_Mutation_p.V118F	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	118											0														0.534351	215.549671	215.683379	70	61	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		Missense_Mutation	SNP	2797650	2797650	8174	12	G	T	T	36	36	ITFG2	T	3	3
ITFG2	55846	broad.mit.edu	36	12	2799527	2799527	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2799527C>T	uc001qlb.1	+	c.421C>T	c.(421-423)CGT>TGT	p.R141C		NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	141	FG-GAP 2; atypical.										0														0.214286	53.961194	63.459653	27	99	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		Missense_Mutation	SNP	2799527	2799527	8174	12	C	T	T	31	31	ITFG2	T	1	1
PTHLH	5744	broad.mit.edu	36	12	28007820	28007820	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:28007820G>T	uc001rik.1	-	c.252C>A	c.(250-252)CCC>CCA	p.P84P	PTHLH_uc001ril.1_Silent_p.P84P|PTHLH_uc001rim.1_Silent_p.P84P|PTHLH_uc001rin.1_Silent_p.P84P	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	84					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)													0.192488	150.680012	188.328838	82	344	GG		KEEP	---	---	---	---	capture			Silent	SNP	28007820	28007820	13216	12	G	T	T	35	35	PTHLH	T	3	3
ITFG2	55846	broad.mit.edu	36	12	2803525	2803525	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2803525G>A	uc001qlb.1	+	c.1249G>A	c.(1249-1251)GAC>AAC	p.D417N		NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	417											0														0.206349	74.728667	89.842756	39	150	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		Missense_Mutation	SNP	2803525	2803525	8174	12	G	A	A	37	37	ITFG2	A	1	1
NRIP2	83714	broad.mit.edu	36	12	2807452	2807452	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2807452C>T	uc001qlc.1	-	c.601G>A	c.(601-603)GCC>ACC	p.A201T		NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	201					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			ovary(1)	1														0.412698	224.705853	225.966084	78	111	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		Missense_Mutation	SNP	2807452	2807452	11058	12	C	T	T	28	28	NRIP2	T	2	2
CCDC91	55297	broad.mit.edu	36	12	28351072	28351072	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:28351072A>C	uc001riq.1	+	c.398A>C	c.(397-399)CAG>CCG	p.Q133P	CCDC91_uc001rio.1_Missense_Mutation_p.Q103P|CCDC91_uc009zjk.1_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.Q133P|CCDC91_uc001rir.1_5'UTR|CCDC91_uc009zjl.1_5'UTR	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	GGA binding partner	133	Potential.				protein transport	Golgi apparatus|membrane				central_nervous_system(1)	1	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)													0.385057	193.574688	195.592739	67	107	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28351072	28351072	2995	12	A	C	C	7	7	CCDC91	C	4	4
FOXM1	2305	broad.mit.edu	36	12	2838843	2838843	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2838843G>A	uc001qle.1	-	c.1628C>T	c.(1627-1629)TCG>TTG	p.S543L	FOXM1_uc001qlf.1_Missense_Mutation_p.S505L|FOXM1_uc001qlg.1_Missense_Mutation_p.S490L|FOXM1_uc009zea.1_Missense_Mutation_p.S490L|FOXM1_uc009zeb.1_Missense_Mutation_p.S489L	NM_202002	NP_973731	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 1	505	Glu/Pro/Ser/Thr-rich.				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|pattern specification process|positive regulation of cell proliferation|positive regulation of gene-specific 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 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|RNA polymerase II transcription factor activity|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|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|skin(1)	2														0.220159	173.916722	201.117326	83	294	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		Missense_Mutation	SNP	2838843	2838843	6264	12	G	A	A	37	37	FOXM1	A	1	1
KDM5A	5927	broad.mit.edu	36	12	290348	290348	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:290348C>T	uc001qif.1	-	c.3180G>A	c.(3178-3180)ACG>ACA	p.T1060T	KDM5A_uc001qie.1_Silent_p.T1060T	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1060					chromatin modification|multicellular organismal development|oxidation-reduction process|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			skin(2)|ovary(1)	3										958				0.227758	121.647026	140.652464	64	217	CC		KEEP	---	---	---	---	capture			Silent	SNP	290348	290348	8439	12	C	T	T	19	19	KDM5A	T	1	1
TULP3	7289	broad.mit.edu	36	12	2912877	2912877	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2912877G>T	uc001qlj.1	+	c.729G>T	c.(727-729)AAG>AAT	p.K243N	TULP3_uc009zec.1_Intron|TULP3_uc001qlk.1_Missense_Mutation_p.K243N	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3	243					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0														0.381295	134.613653	136.340535	53	86	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		Missense_Mutation	SNP	2912877	2912877	17330	12	G	T	T	33	33	TULP3	T	3	3
FAR2	55711	broad.mit.edu	36	12	29341311	29341311	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:29341311T>C	uc001ris.2	+	c.456T>C	c.(454-456)TCT>TCC	p.S152S	FAR2_uc001rit.1_Silent_p.S152S|FAR2_uc009zjm.1_Silent_p.S55S	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	152					ether lipid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0														0.202564	209.176004	241.166382	79	311	TT		KEEP	---	---	---	---	capture			Silent	SNP	29341311	29341311	5911	12	T	C	C	53	53	FAR2	C	4	4
FAR2	55711	broad.mit.edu	36	12	29377851	29377851	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:29377851C>T	uc001ris.2	+	c.1405C>T	c.(1405-1407)CTC>TTC	p.L469F	FAR2_uc001rit.1_Missense_Mutation_p.L469F|FAR2_uc009zjm.1_Missense_Mutation_p.L372F	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	469	Helical; (Potential).				ether lipid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0														0.191111	196.176147	236.306471	86	364	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29377851	29377851	5911	12	C	T	T	24	24	FAR2	T	2	2
OVCH1	341350	broad.mit.edu	36	12	29488344	29488344	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:29488344C>T	uc001rix.1	-	c.3017_splice	c.e24+1	p.G1006_splice		NM_183378	NP_899234			ovochymase 1						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.160079	133.442083	189.131794	81	425	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	29488344	29488344	11736	12	C	T	T	18	18	OVCH1	T	5	2
OVCH1	341350	broad.mit.edu	36	12	29523073	29523073	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:29523073T>C	uc001rix.1	-	c.1031A>G	c.(1030-1032)GAC>GGC	p.D344G		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1	344	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.510638	84.403363	84.408064	24	23	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29523073	29523073	11736	12	T	C	C	58	58	OVCH1	C	4	4
TMTC1	83857	broad.mit.edu	36	12	29562678	29562678	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:29562678T>C	uc001rjb.1	-	c.1694A>G	c.(1693-1695)TAC>TGC	p.Y565C	TMTC1_uc001riz.1_Missense_Mutation_p.Y322C|TMTC1_uc001rja.1_Missense_Mutation_p.Y409C|TMTC1_uc001riy.1_Intron	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	565	TPR 6.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.228883	224.847708	249.559221	84	283	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29562678	29562678	16801	12	T	C	C	57	57	TMTC1	C	4	4
TMTC1	83857	broad.mit.edu	36	12	29616332	29616332	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:29616332G>A	uc001rjb.1	-	c.1181C>T	c.(1180-1182)GCG>GTG	p.A394V	TMTC1_uc001riz.1_Missense_Mutation_p.A151V|TMTC1_uc001rja.1_Missense_Mutation_p.A238V|TMTC1_uc001rjc.1_Missense_Mutation_p.A456V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	394	TPR 1.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.361702	130.479839	132.855568	51	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29616332	29616332	16801	12	G	A	A	38	38	TMTC1	A	1	1
TMTC1	83857	broad.mit.edu	36	12	29627734	29627734	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:29627734G>A	uc001rjb.1	-	c.967C>T	c.(967-969)CTC>TTC	p.L323F	TMTC1_uc001riz.1_Missense_Mutation_p.L80F|TMTC1_uc001rja.1_Missense_Mutation_p.L167F|TMTC1_uc001rjc.1_Missense_Mutation_p.L385F	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	323						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.146667	15.888718	24.877734	11	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29627734	29627734	16801	12	G	A	A	34	34	TMTC1	A	2	2
TMTC1	83857	broad.mit.edu	36	12	29677434	29677434	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:29677434C>T	uc001rjb.1	-	c.717G>A	c.(715-717)GAG>GAA	p.E239E	TMTC1_uc001riz.1_5'UTR|TMTC1_uc001rja.1_Silent_p.E83E|TMTC1_uc001rjc.1_Silent_p.E301E	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	239						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.442396	274.959818	275.588717	96	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	29677434	29677434	16801	12	C	T	T	32	32	TMTC1	T	2	2
CAPRIN2	65981	broad.mit.edu	36	12	30755781	30755781	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:30755781C>T	uc001rji.1	-	c.2801G>A	c.(2800-2802)CGA>CAA	p.R934Q	CAPRIN2_uc001rjf.1_Missense_Mutation_p.E745K|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R601Q|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R884Q|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R600Q|CAPRIN2_uc001rjk.2_Missense_Mutation_p.R933Q|CAPRIN2_uc001rjl.2_Missense_Mutation_p.R878Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	934					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.245509	92.986361	102.84257	41	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30755781	30755781	2755	12	C	T	T	31	31	CAPRIN2	T	1	1
CAPRIN2	65981	broad.mit.edu	36	12	30773162	30773162	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:30773162T>G	uc001rji.1	-	c.1469A>C	c.(1468-1470)AAA>ACA	p.K490T	CAPRIN2_uc001rjf.1_Missense_Mutation_p.K287T|CAPRIN2_uc001rjg.1_Missense_Mutation_p.K157T|CAPRIN2_uc001rjh.1_Missense_Mutation_p.K490T|CAPRIN2_uc001rjj.1_Missense_Mutation_p.K157T|CAPRIN2_uc001rjk.2_Missense_Mutation_p.K490T|CAPRIN2_uc001rjl.2_Missense_Mutation_p.K490T|CAPRIN2_uc001rjm.1_Missense_Mutation_p.K157T|CAPRIN2_uc001rjn.1_Missense_Mutation_p.K157T	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	490					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.227053	255.162742	283.449216	94	320	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30773162	30773162	2755	12	T	G	G	64	64	CAPRIN2	G	4	4
DDX11	1663	broad.mit.edu	36	12	31128808	31128808	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:31128808C>T	uc001rjt.1	+	c.418C>T	c.(418-420)CGA>TGA	p.R140*	DDX11_uc001rjr.1_Nonsense_Mutation_p.R140*|DDX11_uc001rjs.1_Nonsense_Mutation_p.R140*|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Nonsense_Mutation_p.R140*|DDX11_uc001rjw.1_Nonsense_Mutation_p.R114*	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	140	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)										Multiple Myeloma(12;0.14)			0.413793	31.51471	31.69686	12	17	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	31128808	31128808	4514	12	C	T	T	27	27	DDX11	T	5	1
DDX11	1663	broad.mit.edu	36	12	31141069	31141069	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:31141069C>T	uc001rjt.1	+	c.1640C>T	c.(1639-1641)GCC>GTC	p.A547V	DDX11_uc001rjr.1_Missense_Mutation_p.A547V|DDX11_uc001rjs.1_Missense_Mutation_p.A547V|DDX11_uc001rju.1_Missense_Mutation_p.A225V|DDX11_uc001rjv.1_Missense_Mutation_p.A547V|DDX11_uc001rjw.1_Missense_Mutation_p.A521V|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	547					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)										Multiple Myeloma(12;0.14)			0.413462	116.195399	116.876306	43	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31141069	31141069	4514	12	C	T	T	26	26	DDX11	T	2	2
DENND5B	160518	broad.mit.edu	36	12	31496219	31496219	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:31496219G>A	uc001rkh.1	-	c.1656C>T	c.(1654-1656)TAC>TAT	p.Y552Y	DENND5B_uc001rki.1_Silent_p.Y517Y|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Silent_p.Y539Y|DENND5B_uc001rkk.1_Silent_p.Y439Y	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	517	dDENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2														0.346939	176.736202	180.791563	68	128	GG		KEEP	---	---	---	---	capture			Silent	SNP	31496219	31496219	4616	12	G	A	A	40	40	DENND5B	A	1	1
C12orf72	254013	broad.mit.edu	36	12	31712078	31712078	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:31712078G>T	uc009zjr.1	+	c.676G>T	c.(676-678)GGA>TGA	p.G226*	C12orf72_uc001rkl.1_Nonsense_Mutation_p.G226*|C12orf72_uc001rkm.1_Nonsense_Mutation_p.G226*	NM_173802	NP_776163	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	226						cytoplasm	protein methyltransferase activity				0														0.142857	25.932951	42.287605	19	114	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	31712078	31712078	1758	12	G	T	T	47	47	C12orf72	T	5	3
H3F3C	440093	broad.mit.edu	36	12	31836043	31836043	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:31836043G>T	uc001rkr.1	-	c.325C>A	c.(325-327)CTG>ATG	p.L109M		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	109					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.266932	148.7914	161.123742	67	184	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31836043	31836043	7217	12	G	T	T	35	35	H3F3C	T	3	3
H3F3C	440093	broad.mit.edu	36	12	31836194	31836194	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:31836194G>A	uc001rkr.1	-	c.174C>T	c.(172-174)ACC>ACT	p.T58T		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	58					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.466292	248.428442	248.600534	83	95	GG		KEEP	---	---	---	---	capture			Silent	SNP	31836194	31836194	7217	12	G	A	A	39	39	H3F3C	A	1	1
C12orf35	55196	broad.mit.edu	36	12	32025531	32025531	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32025531G>A	uc001rks.1	+	c.375G>A	c.(373-375)AGG>AGA	p.R125R		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	125										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.223301	50.165963	57.421342	23	80	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		Silent	SNP	32025531	32025531	1726	12	G	A	A	41	41	C12orf35	A	2	2
C12orf35	55196	broad.mit.edu	36	12	32026768	32026768	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32026768G>A	uc001rks.1	+	c.1612G>A	c.(1612-1614)GTA>ATA	p.V538I		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	538										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.1875	48.81804	60.529453	24	104	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		Missense_Mutation	SNP	32026768	32026768	1726	12	G	A	A	36	36	C12orf35	A	2	2
C12orf35	55196	broad.mit.edu	36	12	32028339	32028339	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32028339G>A	uc001rks.1	+	c.3183G>A	c.(3181-3183)GAG>GAA	p.E1061E		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1061										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.193443	119.036129	145.80238	59	246	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		Silent	SNP	32028339	32028339	1726	12	G	A	A	36	36	C12orf35	A	2	2
C12orf35	55196	broad.mit.edu	36	12	32029143	32029143	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32029143G>A	uc001rks.1	+	c.3987G>A	c.(3985-3987)CAG>CAA	p.Q1329Q	C12orf35_uc001rkt.1_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1329										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.224299	108.67154	123.638203	48	166	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		Silent	SNP	32029143	32029143	1726	12	G	A	A	33	33	C12orf35	A	2	2
C12orf35	55196	broad.mit.edu	36	12	32029557	32029557	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32029557C>A	uc001rks.1	+	c.4401C>A	c.(4399-4401)ATC>ATA	p.I1467I	C12orf35_uc001rkt.1_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1467										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.447619	252.698193	253.20329	94	116	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		Silent	SNP	32029557	32029557	1726	12	C	A	A	32	32	C12orf35	A	3	3
C12orf35	55196	broad.mit.edu	36	12	32029668	32029668	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32029668C>A	uc001rks.1	+	c.4512C>A	c.(4510-4512)ACC>ACA	p.T1504T	C12orf35_uc001rkt.1_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1504										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.427184	116.001803	116.472546	44	59	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		Silent	SNP	32029668	32029668	1726	12	C	A	A	24	24	C12orf35	A	3	3
BICD1	636	broad.mit.edu	36	12	32260534	32260534	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32260534G>A	uc001rku.1	+	c.300G>A	c.(298-300)TCG>TCA	p.S100S	BICD1_uc001rkv.1_Silent_p.S100S	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	100	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)	1	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)													0.458824	215.10789	215.360806	78	92	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		Silent	SNP	32260534	32260534	1453	12	G	A	A	37	37	BICD1	A	1	1
BICD1	636	broad.mit.edu	36	12	32350064	32350064	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32350064G>A	uc001rku.1	+	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	BICD1_uc001rkv.1_Missense_Mutation_p.R249Q	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	249	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)	1	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)													0.178218	35.591519	45.435579	18	83	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		Missense_Mutation	SNP	32350064	32350064	1453	12	G	A	A	39	39	BICD1	A	1	1
FGD4	121512	broad.mit.edu	36	12	32626306	32626306	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32626306G>T	uc001rkz.1	+	c.238G>T	c.(238-240)GAT>TAT	p.D80Y	FGD4_uc001rky.1_5'UTR|FGD4_uc001rla.1_5'UTR|FGD4_uc001rlb.1_Non-coding_Transcript|FGD4_uc001rkx.2_Missense_Mutation_p.D80Y	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	80	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.493878	318.812972	318.821638	121	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32626306	32626306	6072	12	G	T	T	33	33	FGD4	T	3	3
FGD4	121512	broad.mit.edu	36	12	32645607	32645607	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32645607G>T	uc001rkz.1	+	c.819G>T	c.(817-819)GAG>GAT	p.E273D	FGD4_uc001rky.1_Missense_Mutation_p.E25D|FGD4_uc001rla.1_5'UTR|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	273	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.188679	53.745273	68.17989	30	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32645607	32645607	6072	12	G	T	T	33	33	FGD4	T	3	3
YARS2	51067	broad.mit.edu	36	12	32799389	32799389	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32799389G>T	uc001rli.1	-	c.687C>A	c.(685-687)TTC>TTA	p.F229L		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	229					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|tyrosine-tRNA ligase activity				0	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)							OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.185379	119.462513	155.05353	71	312	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32799389	32799389	18051	12	G	T	T	33	33	YARS2	T	3	3
PKP2	5318	broad.mit.edu	36	12	32846637	32846637	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32846637G>T	uc001rlj.2	-	c.2266C>A	c.(2266-2268)CTG>ATG	p.L756M	PKP2_uc001rlk.2_Missense_Mutation_p.L712M	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	756	ARM 6.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.223005	192.664565	222.757381	95	331	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32846637	32846637	12410	12	G	T	T	33	33	PKP2	T	3	3
PKP2	5318	broad.mit.edu	36	12	32922068	32922068	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32922068G>A	uc001rlj.2	-	c.1013C>T	c.(1012-1014)ACT>ATT	p.T338I	PKP2_uc001rlk.2_Missense_Mutation_p.T338I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	338					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.272727	48.533279	52.124534	21	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32922068	32922068	12410	12	G	A	A	36	36	PKP2	A	2	2
SYT10	341359	broad.mit.edu	36	12	33451133	33451133	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:33451133C>T	uc001rll.1	-	c.935G>A	c.(934-936)CGA>CAA	p.R312Q	SYT10_uc009zju.1_Missense_Mutation_p.R122Q	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	312	Cytoplasmic (Potential).|C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)	1	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)													0.472727	225.932692	226.03972	78	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33451133	33451133	15987	12	C	T	T	31	31	SYT10	T	1	1
EFCAB4B	84766	broad.mit.edu	36	12	3633785	3633785	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:3633785C>A	uc001qmj.1	-	c.900G>T	c.(898-900)GAG>GAT	p.E300D	EFCAB4B_uc001qmi.1_Non-coding_Transcript	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	300	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2														0.442478	132.514474	132.843014	50	63	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		Missense_Mutation	SNP	3633785	3633785	5124	12	C	A	A	32	32	EFCAB4B	A	3	3
ALG10B	144245	broad.mit.edu	36	12	37000512	37000512	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:37000512G>T	uc001rln.2	+	c.652G>T	c.(652-654)GAC>TAC	p.D218Y	ALG10B_uc001rlo.2_Missense_Mutation_p.D188Y	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	218	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)	2	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)												0.226221	172.758721	199.574312	88	301	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37000512	37000512	515	12	G	T	T	33	33	ALG10B	T	3	3
CPNE8	144402	broad.mit.edu	36	12	37447711	37447711	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:37447711C>T	uc001rls.1	-	c.568G>A	c.(568-570)GAT>AAT	p.D190N		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	190	C2 2.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)												0.145	42.627051	66.896975	29	171	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37447711	37447711	3956	12	C	T	T	32	32	CPNE8	T	2	2
CPNE8	144402	broad.mit.edu	36	12	37554564	37554564	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:37554564C>A	uc001rls.1	-	c.115G>T	c.(115-117)GAC>TAC	p.D39Y		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	39	C2 1.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)												0.202312	68.113595	82.369374	35	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37554564	37554564	3956	12	C	A	A	32	32	CPNE8	A	3	3
KIF21A	55605	broad.mit.edu	36	12	38002869	38002869	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:38002869G>A	uc001rly.1	-	c.3539C>T	c.(3538-3540)GCC>GTC	p.A1180V	KIF21A_uc001rlv.1_Missense_Mutation_p.A185V|KIF21A_uc001rlw.1_Missense_Mutation_p.A497V|KIF21A_uc001rlx.1_Missense_Mutation_p.A1167V|KIF21A_uc001rlz.1_Missense_Mutation_p.A1144V|KIF21A_uc001rlu.1_5'Flank	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1180					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|lung(1)|pancreas(1)	6		Lung NSC(34;0.179)|all_lung(34;0.213)												0.167689	137.14082	188.339893	82	407	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38002869	38002869	8599	12	G	A	A	42	42	KIF21A	A	2	2
KIF21A	55605	broad.mit.edu	36	12	38013035	38013035	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:38013035C>T	uc001rly.1	-	c.2629G>A	c.(2629-2631)GGA>AGA	p.G877R	KIF21A_uc001rlv.1_5'Flank|KIF21A_uc001rlw.1_Missense_Mutation_p.G194R|KIF21A_uc001rlx.1_Missense_Mutation_p.G864R|KIF21A_uc001rlz.1_Missense_Mutation_p.G841R	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	877					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|lung(1)|pancreas(1)	6		Lung NSC(34;0.179)|all_lung(34;0.213)												0.391566	196.137275	197.846382	65	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38013035	38013035	8599	12	C	T	T	24	24	KIF21A	T	2	2
KIF21A	55605	broad.mit.edu	36	12	38021069	38021069	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:38021069C>A	uc001rly.1	-	c.2016G>T	c.(2014-2016)CAG>CAT	p.Q672H	KIF21A_uc001rlw.1_5'UTR|KIF21A_uc001rlx.1_Missense_Mutation_p.Q659H|KIF21A_uc001rlz.1_Missense_Mutation_p.Q659H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	672					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|lung(1)|pancreas(1)	6		Lung NSC(34;0.179)|all_lung(34;0.213)												0.158416	22.540275	33.776449	16	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38021069	38021069	8599	12	C	A	A	32	32	KIF21A	A	3	3
KIF21A	55605	broad.mit.edu	36	12	38047198	38047198	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:38047198C>A	uc001rly.1	-	c.636G>T	c.(634-636)CGG>CGT	p.R212R	KIF21A_uc001rlx.1_Silent_p.R212R|KIF21A_uc001rlz.1_Silent_p.R212R|KIF21A_uc001rma.1_Silent_p.R220R	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	212	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|lung(1)|pancreas(1)	6		Lung NSC(34;0.179)|all_lung(34;0.213)												0.411765	143.60783	144.547078	56	80	CC		KEEP	---	---	---	---	capture			Silent	SNP	38047198	38047198	8599	12	C	A	A	30	30	KIF21A	A	3	3
ABCD2	225	broad.mit.edu	36	12	38297063	38297063	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:38297063C>A	uc001rmb.2	-	c.1114G>T	c.(1114-1116)GAT>TAT	p.D372Y		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	372	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.438163	328.416339	329.365942	124	159	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38297063	38297063	62	12	C	A	A	32	32	ABCD2	A	3	3
SLC2A13	114134	broad.mit.edu	36	12	38444627	38444627	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:38444627C>A	uc001rmd.1	-	c.1565G>T	c.(1564-1566)AGA>ATA	p.R522I	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	541	Cytoplasmic (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)												0.202417	127.009598	154.268843	67	264	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38444627	38444627	15039	12	C	A	A	32	32	SLC2A13	A	3	3
LRRK2	120892	broad.mit.edu	36	12	38931561	38931561	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:38931561C>T	uc001rmg.2	+	c.1129C>T	c.(1129-1131)CTC>TTC	p.L377F	LRRK2_uc001rmh.1_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	377					activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771		OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.210526	35.654977	41.550565	16	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38931561	38931561	9409	12	C	T	T	32	32	LRRK2	T	2	2
LRRK2	120892	broad.mit.edu	36	12	39002125	39002125	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:39002125G>T	uc001rmg.2	+	c.5192G>T	c.(5191-5193)AGA>ATA	p.R1731I	LRRK2_uc009zjw.1_Missense_Mutation_p.R569I|LRRK2_uc001rmi.2_Missense_Mutation_p.R564I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1731					activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771				0.183432	52.410726	68.324624	31	138	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39002125	39002125	9409	12	G	T	T	33	33	LRRK2	T	3	3
LRRK2	120892	broad.mit.edu	36	12	39044961	39044961	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:39044961C>A	uc001rmg.2	+	c.7232C>A	c.(7231-7233)TCT>TAT	p.S2411Y	LRRK2_uc009zjw.1_Missense_Mutation_p.S1249Y|LRRK2_uc001rmi.2_Missense_Mutation_p.S1244Y	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2411					activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771		OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.377778	131.277645	133.052285	51	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39044961	39044961	9409	12	C	A	A	32	32	LRRK2	A	3	3
CNTN1	1272	broad.mit.edu	36	12	39613888	39613888	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:39613888A>C	uc001rmm.1	+	c.926A>C	c.(925-927)GAA>GCA	p.E309A	CNTN1_uc009zjy.1_Missense_Mutation_p.E309A|CNTN1_uc001rmn.1_Missense_Mutation_p.E298A|CNTN1_uc001rmo.2_Missense_Mutation_p.E309A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	309	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.506494	276.660789	276.666606	78	76	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39613888	39613888	3778	12	A	C	C	9	9	CNTN1	C	4	4
CNTN1	1272	broad.mit.edu	36	12	39616952	39616952	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:39616952G>A	uc001rmm.1	+	c.1088G>A	c.(1087-1089)CGA>CAA	p.R363Q	CNTN1_uc009zjy.1_Missense_Mutation_p.R363Q|CNTN1_uc001rmn.1_Missense_Mutation_p.R352Q|CNTN1_uc001rmo.2_Missense_Mutation_p.R363Q	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	363	Ig-like C2-type 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.420485	437.939868	439.984851	156	215	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39616952	39616952	3778	12	G	A	A	37	37	CNTN1	A	1	1
CNTN1	1272	broad.mit.edu	36	12	39619431	39619431	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:39619431C>A	uc001rmm.1	+	c.1256C>A	c.(1255-1257)CCT>CAT	p.P419H	CNTN1_uc009zjy.1_Missense_Mutation_p.P419H|CNTN1_uc001rmn.1_Missense_Mutation_p.P408H|CNTN1_uc001rmo.2_Missense_Mutation_p.P419H	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	419	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)							p.P419H(OVK18-Tumor)	952				0.1875	44.214192	55.930532	24	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39619431	39619431	3778	12	C	A	A	24	24	CNTN1	A	3	3
CNTN1	1272	broad.mit.edu	36	12	39624229	39624229	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:39624229G>T	uc001rmm.1	+	c.1673G>T	c.(1672-1674)AGG>ATG	p.R558M	CNTN1_uc009zjy.1_Missense_Mutation_p.R558M|CNTN1_uc001rmn.1_Missense_Mutation_p.R547M|CNTN1_uc001rmo.2_Missense_Mutation_p.R558M	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	558	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.136986	26.699702	45.325086	20	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39624229	39624229	3778	12	G	T	T	35	35	CNTN1	T	3	3
CNTN1	1272	broad.mit.edu	36	12	39673263	39673263	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:39673263C>T	uc001rmm.1	+	c.2038C>T	c.(2038-2040)CGC>TGC	p.R680C	CNTN1_uc001rmn.1_Missense_Mutation_p.R669C	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	680	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.193277	89.83593	110.7227	46	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39673263	39673263	3778	12	C	T	T	23	23	CNTN1	T	1	1
PDZRN4	29951	broad.mit.edu	36	12	40247881	40247881	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:40247881G>A	uc001rmq.2	+	c.723G>A	c.(721-723)AGG>AGA	p.R241R	PDZRN4_uc009zjz.1_Silent_p.R239R|PDZRN4_uc001rmr.1_Silent_p.R126R	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4	499							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	8	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)								467				0.191781	54.81311	67.773944	28	118	GG		KEEP	---	---	---	---	capture			Silent	SNP	40247881	40247881	12131	12	G	A	A	41	41	PDZRN4	A	2	2
PPHLN1	51535	broad.mit.edu	36	12	41035229	41035229	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:41035229G>T	uc001rng.1	+	c.238_splice	c.e4-1	p.D80_splice	PPHLN1_uc001rmy.1_Splice_Site_SNP_p.D98_splice|PPHLN1_uc001rna.1_Splice_Site_SNP_p.D32_splice|PPHLN1_uc001rnb.1_Splice_Site_SNP_p.D87_splice|PPHLN1_uc001rnc.1_Splice_Site_SNP_p.D80_splice|PPHLN1_uc001rnd.1_Splice_Site_SNP_p.D32_splice|PPHLN1_uc001rne.1_Splice_Site_SNP_p.D87_splice|PPHLN1_uc001rnf.1_Splice_Site_SNP_p.D80_splice|PPHLN1_uc001rnh.1_Splice_Site_SNP|PPHLN1_uc001rni.1_Splice_Site_SNP_p.D25_splice	NM_016488	NP_057572			periphilin 1 isoform 1						keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)												0.415094	178.806472	179.810723	66	93	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0875)	Splice_Site_SNP	SNP	41035229	41035229	12745	12	G	T	T	35	35	PPHLN1	T	5	3
PPHLN1	51535	broad.mit.edu	36	12	41073734	41073734	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:41073734C>T	uc001rng.1	+	c.744C>T	c.(742-744)AAC>AAT	p.N248N	PPHLN1_uc001rmy.1_Silent_p.N266N|PPHLN1_uc001rna.1_Silent_p.N200N|PPHLN1_uc001rnb.1_Silent_p.N255N|PPHLN1_uc001rnc.1_Silent_p.N248N|PPHLN1_uc001rnd.1_Silent_p.N200N|PPHLN1_uc001rne.1_Silent_p.N236N|PPHLN1_uc001rnf.1_Silent_p.N229N|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc001rni.1_Silent_p.N193N|PPHLN1_uc001rnj.1_Silent_p.N64N	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	248					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)												0.12766	24.045232	43.109311	18	123	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0875)	Silent	SNP	41073734	41073734	12745	12	C	T	T	20	20	PPHLN1	T	2	2
ADAMTS20	80070	broad.mit.edu	36	12	42126782	42126782	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:42126782C>T	uc001rnn.1	-	c.2080G>A	c.(2080-2082)GCA>ACA	p.A694T		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	694	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)								2149				0.517647	132.259777	132.286793	44	41	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0473)	Missense_Mutation	SNP	42126782	42126782	267	12	C	T	T	26	26	ADAMTS20	T	2	2
ADAMTS20	80070	broad.mit.edu	36	12	42132719	42132719	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:42132719G>A	uc001rnn.1	-	c.1807C>T	c.(1807-1809)CGA>TGA	p.R603*		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	603	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)								2149				0.162162	19.95117	27.985252	12	62	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0473)	Nonsense_Mutation	SNP	42132719	42132719	267	12	G	A	A	37	37	ADAMTS20	A	5	1
ADAMTS20	80070	broad.mit.edu	36	12	42231015	42231015	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:42231015C>A	uc001rnn.1	-	c.417G>T	c.(415-417)GAG>GAT	p.E139D		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	139						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)								2149				0.425	45.063843	45.261007	17	23	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0473)	Missense_Mutation	SNP	42231015	42231015	267	12	C	A	A	24	24	ADAMTS20	A	3	3
IRAK4	51135	broad.mit.edu	36	12	42453104	42453104	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:42453104G>A	uc001rnu.2	+	c.613G>A	c.(613-615)GTA>ATA	p.V205I	IRAK4_uc001rnt.2_Missense_Mutation_p.V205I|IRAK4_uc001rnv.2_Missense_Mutation_p.V81I|IRAK4_uc001rnw.2_Missense_Mutation_p.V81I|IRAK4_uc001rnx.2_Missense_Mutation_p.V81I|IRAK4_uc001rny.2_Missense_Mutation_p.V81I	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	205	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)							p.V81I(CI1-Tumor)	243				0.147368	19.383462	30.736766	14	81	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.04)	Missense_Mutation	SNP	42453104	42453104	8128	12	G	A	A	40	40	IRAK4	A	1	1
DBX2	440097	broad.mit.edu	36	12	43696419	43696419	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:43696419C>A	uc001rok.1	-	c.937G>T	c.(937-939)GAA>TAA	p.E313*		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	313					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)												0.414634	179.852715	180.900239	68	96	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0515)	Nonsense_Mutation	SNP	43696419	43696419	4431	12	C	A	A	32	32	DBX2	A	5	3
ANO6	196527	broad.mit.edu	36	12	44089443	44089443	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:44089443T>G	uc001roo.1	+	c.1917T>G	c.(1915-1917)GTT>GTG	p.V639V	ANO6_uc001ron.1_Non-coding_Transcript	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	639	Extracellular (Potential).				activation of blood coagulation via clotting cascade	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2														0.496622	501.431649	501.434472	147	149	TT		KEEP	---	---	---	---	capture			Silent	SNP	44089443	44089443	709	12	T	G	G	64	64	ANO6	G	4	4
FGF6	2251	broad.mit.edu	36	12	4413710	4413710	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4413710C>T	uc001qmr.1	-	c.559G>A	c.(559-561)GGA>AGA	p.G187R		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	187					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			ovary(1)	1														0.453125	273.308739	273.675313	87	105	CC		KEEP	---	---	---	---	capture	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		Missense_Mutation	SNP	4413710	4413710	6093	12	C	T	T	23	23	FGF6	T	1	1
AKAP3	10566	broad.mit.edu	36	12	4606425	4606425	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4606425G>A	uc001qnb.2	-	c.1904C>T	c.(1903-1905)TCT>TTT	p.S635F		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	635					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(2)|large_intestine(1)|ovary(1)|kidney(1)	5														0.427673	202.370713	203.097045	68	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4606425	4606425	455	12	G	A	A	33	33	AKAP3	A	2	2
AKAP3	10566	broad.mit.edu	36	12	4607827	4607827	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4607827T>G	uc001qnb.2	-	c.502A>C	c.(502-504)ACC>CCC	p.T168P		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	168					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(2)|large_intestine(1)|ovary(1)|kidney(1)	5														0.233244	244.77653	269.0431	87	286	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4607827	4607827	455	12	T	G	G	59	59	AKAP3	G	4	4
SLC48A1	55652	broad.mit.edu	36	12	46460347	46460347	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46460347C>A	uc001rqd.1	+	c.72C>A	c.(70-72)GTC>GTA	p.V24V	SLC48A1_uc001rqc.2_Intron|SLC48A1_uc009zkt.1_Silent_p.V24V	NM_017842	NP_060312	Q6P1K1	HRG1_HUMAN	heme-responsive gene 1	Error:Variant_position_missing_in_Q6P1K1_after_alignment					transport	endosome membrane|integral to membrane|lysosomal membrane					0														0.255208	104.168922	114.620441	49	143	CC		KEEP	---	---	---	---	capture			Silent	SNP	46460347	46460347	15146	12	C	A	A	32	32	SLC48A1	A	3	3
COL2A1	1280	broad.mit.edu	36	12	46654166	46654166	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46654166C>T	uc001rqu.1	-	c.4290G>A	c.(4288-4290)ACG>ACA	p.T1430T	COL2A1_uc009zkw.1_Non-coding_Transcript|COL2A1_uc001rqv.1_Silent_p.T1361T|COL2A1_uc001rqt.1_Silent_p.T211T	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1430	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	extracellular matrix structural constituent conferring tensile strength|identical protein binding|platelet-derived growth factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)									0.213115	78.641665	92.5491	39	144	CC		KEEP	---	---	---	---	capture			Silent	SNP	46654166	46654166	3825	12	C	T	T	19	19	COL2A1	T	1	1
SENP1	29843	broad.mit.edu	36	12	46729020	46729020	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46729020G>A	uc001rqx.1	-	c.1570C>T	c.(1570-1572)CTT>TTT	p.L524F	SENP1_uc001rqw.1_Missense_Mutation_p.L524F|SENP1_uc001rqy.1_Missense_Mutation_p.L325F|SENP1_uc001rqz.1_Missense_Mutation_p.L325F|SENP1_uc009zkx.1_Missense_Mutation_p.L524F	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	524	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)												0.457143	148.787916	148.95595	48	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46729020	46729020	14532	12	G	A	A	33	33	SENP1	A	2	2
SENP1	29843	broad.mit.edu	36	12	46745194	46745194	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46745194G>A	uc001rqx.1	-	c.1196C>T	c.(1195-1197)CCT>CTT	p.P399L	SENP1_uc001rqw.1_Missense_Mutation_p.P399L|SENP1_uc001rqy.1_Missense_Mutation_p.P200L|SENP1_uc001rqz.1_Missense_Mutation_p.P200L|SENP1_uc009zkx.1_Missense_Mutation_p.P399L	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	399					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)												0.2	50.936551	59.708762	21	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46745194	46745194	14532	12	G	A	A	35	35	SENP1	A	2	2
PFKM	5213	broad.mit.edu	36	12	46815090	46815090	+	Splice_Site_SNP	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46815090T>G	uc001rrb.1	+	c.1056_splice	c.e11+2	p.N352_splice	PFKM_uc001rra.1_5'UTR|PFKM_uc001rrc.2_Splice_Site_SNP_p.N281_splice|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Splice_Site_SNP_p.N281_splice|PFKM_uc001rrg.1_Splice_Site_SNP_p.N281_splice	NM_000289	NP_000280			phosphofructokinase, muscle						fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(1)|kidney(1)	2														0.317308	95.142363	98.226103	33	71	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	46815090	46815090	12187	12	T	G	G	60	60	PFKM	G	5	4
PFKM	5213	broad.mit.edu	36	12	46820838	46820838	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46820838C>T	uc001rrb.1	+	c.1471C>T	c.(1471-1473)CGC>TGC	p.R491C	PFKM_uc001rra.1_Missense_Mutation_p.R105C|PFKM_uc001rrc.2_Missense_Mutation_p.R420C|PFKM_uc001rrd.2_Missense_Mutation_p.R105C|PFKM_uc001rre.1_Missense_Mutation_p.R420C|PFKM_uc001rrg.1_Missense_Mutation_p.R389C	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	420					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(1)|kidney(1)	2														0.424893	272.284629	273.429699	99	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46820838	46820838	12187	12	C	T	T	31	31	PFKM	T	1	1
PFKM	5213	broad.mit.edu	36	12	46824172	46824172	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46824172G>A	uc001rrb.1	+	c.2170G>A	c.(2170-2172)GAC>AAC	p.D724N	PFKM_uc001rra.1_Missense_Mutation_p.D338N|PFKM_uc001rrc.2_Missense_Mutation_p.D653N|PFKM_uc001rrd.2_Missense_Mutation_p.D338N|PFKM_uc001rre.1_Missense_Mutation_p.D653N|PFKM_uc001rrg.1_Missense_Mutation_p.D622N	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	653					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(1)|kidney(1)	2														0.180887	98.183406	126.248881	53	240	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46824172	46824172	12187	12	G	A	A	37	37	PFKM	A	1	1
C12orf68	387856	broad.mit.edu	36	12	46864529	46864529	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46864529G>T	uc001rrj.1	+	c.357G>T	c.(355-357)GAG>GAT	p.E119D		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	hypothetical protein LOC387856	119						cytoplasm				central_nervous_system(1)	1														0.413043	48.310416	48.615432	19	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46864529	46864529	1754	12	G	T	T	33	33	C12orf68	T	3	3
OR10AD1	121275	broad.mit.edu	36	12	46883257	46883257	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46883257G>A	uc001rrl.1	-	c.86C>T	c.(85-87)GCC>GTC	p.A29V		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.18	33.091958	42.7226	18	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46883257	46883257	11302	12	G	A	A	42	42	OR10AD1	A	2	2
ZNF641	121274	broad.mit.edu	36	12	47023657	47023657	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47023657G>A	uc001rrn.1	-	c.683C>T	c.(682-684)TCC>TTC	p.S228F	ZNF641_uc001rro.1_Missense_Mutation_p.S214F	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	228	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.276119	87.401563	93.459895	37	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47023657	47023657	18652	12	G	A	A	41	41	ZNF641	A	2	2
C12orf54	121273	broad.mit.edu	36	12	47174864	47174864	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47174864G>T	uc001rrr.1	+	c.259G>T	c.(259-261)GAT>TAT	p.D87Y	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	hypothetical protein LOC121273	87											0														0.214912	97.234699	114.358747	49	179	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47174864	47174864	1743	12	G	T	T	33	33	C12orf54	T	3	3
OR8S1	341568	broad.mit.edu	36	12	47206212	47206212	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47206212C>T	uc001rrs.1	+	c.531C>T	c.(529-531)TAC>TAT	p.Y177Y		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	177	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.210811	73.906858	88.239324	39	146	CC		KEEP	---	---	---	---	capture			Silent	SNP	47206212	47206212	11657	12	C	T	T	17	17	OR8S1	T	2	2
GALNT8	26290	broad.mit.edu	36	12	4724084	4724084	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4724084G>A	uc001qne.1	+	c.817G>A	c.(817-819)GTG>ATG	p.V273M		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	273	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|pancreas(1)	2						Colon(108;631 1558 7270 20097 39846)								0.382716	79.499129	80.478113	31	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4724084	4724084	6483	12	G	A	A	40	40	GALNT8	A	1	1
GALNT8	26290	broad.mit.edu	36	12	4725044	4725044	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4725044C>T	uc001qne.1	+	c.1049C>T	c.(1048-1050)GCC>GTC	p.A350V		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	350	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|pancreas(1)	2						Colon(108;631 1558 7270 20097 39846)								0.219512	40.816463	46.751613	18	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4725044	4725044	6483	12	C	T	T	26	26	GALNT8	T	2	2
CCNT1	904	broad.mit.edu	36	12	47373305	47373305	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47373305C>A	uc001rse.1	-	c.1959G>T	c.(1957-1959)CAG>CAT	p.Q653H	LOC144438_uc001rsd.2_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.Q368H	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	653					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein binding			ovary(3)|lung(1)|breast(1)	5										169				0.207547	80.670518	97.488667	44	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47373305	47373305	3061	12	C	A	A	32	32	CCNT1	A	3	3
ADCY6	112	broad.mit.edu	36	12	47457247	47457247	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47457247T>C	uc001rsh.2	-	c.1283A>G	c.(1282-1284)GAC>GGC	p.D428G	ADCY6_uc001rsj.2_Missense_Mutation_p.D428G|ADCY6_uc001rsi.2_Missense_Mutation_p.D428G	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	428	Cytoplasmic (Potential).	Magnesium 2 (By similarity).|Magnesium 1 (By similarity).			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0														0.508287	565.247986	565.26563	184	178	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47457247	47457247	299	12	T	C	C	58	58	ADCY6	C	4	4
CACNB3	784	broad.mit.edu	36	12	47504352	47504352	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47504352C>T	uc001rsl.1	+	c.336C>T	c.(334-336)GGC>GGT	p.G112G	CACNB3_uc001rsk.1_5'UTR	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	112	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)									0.21875	12.01121	14.344155	7	25	CC		KEEP	---	---	---	---	capture			Silent	SNP	47504352	47504352	2670	12	C	T	T	27	27	CACNB3	T	1	1
DDX23	9416	broad.mit.edu	36	12	47512223	47512223	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47512223C>T	uc001rsm.1	-	c.1969G>A	c.(1969-1971)GCA>ACA	p.A657T		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	657	Helicase C-terminal.				cis assembly of pre-catalytic spliceosome	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)	5														0.377953	133.873542	135.531621	48	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47512223	47512223	4521	12	C	T	T	26	26	DDX23	T	2	2
DDX23	9416	broad.mit.edu	36	12	47525726	47525726	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47525726C>T	uc001rsm.1	-	c.107G>A	c.(106-108)CGG>CAG	p.R36Q		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	36	Arg-rich.				cis assembly of pre-catalytic spliceosome	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)	5														0.472081	271.558747	271.69201	93	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47525726	47525726	4521	12	C	T	T	23	23	DDX23	T	1	1
RND1	27289	broad.mit.edu	36	12	47541150	47541150	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47541150C>T	uc001rsn.1	-	c.350G>A	c.(349-351)AGC>AAC	p.S117N		NM_014470	NP_055285	Q92730	RND1_HUMAN	GTP-binding protein RHO6	117					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			ovary(1)	1														0.393204	234.922503	236.981864	81	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47541150	47541150	13896	12	C	T	T	28	28	RND1	T	2	2
CCDC65	85478	broad.mit.edu	36	12	47597071	47597071	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47597071C>A	uc001rso.1	+	c.522C>A	c.(520-522)ATC>ATA	p.I174I		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	174										ovary(1)	1														0.232558	41.548754	47.187986	20	66	CC		KEEP	---	---	---	---	capture			Silent	SNP	47597071	47597071	2960	12	C	A	A	32	32	CCDC65	A	3	3
PRKAG1	5571	broad.mit.edu	36	12	47683194	47683194	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47683194C>A	uc001rsz.1	-	c.915G>T	c.(913-915)GAG>GAT	p.E305D	PRKAG1_uc001rsx.1_Missense_Mutation_p.E212D|PRKAG1_uc001rsy.1_Missense_Mutation_p.E296D|PRKAG1_uc009zlb.1_Missense_Mutation_p.E108D	NM_212461	NP_997626	P54619	AAKG1_HUMAN	AMP-activated protein kinase, noncatalytic	296	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|protein phosphorylation|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			kidney(1)	1														0.179792	196.384781	261.434004	121	552	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47683194	47683194	12943	12	C	A	A	24	24	PRKAG1	A	3	3
MLL2	8085	broad.mit.edu	36	12	47718698	47718698	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47718698C>A	uc001rta.2	-	c.8708G>T	c.(8707-8709)AGA>ATA	p.R2903I		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2903	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 gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29														0.301587	43.801467	46.016347	19	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47718698	47718698	10011	12	C	A	A	32	32	MLL2	A	3	3
MLL2	8085	broad.mit.edu	36	12	47720465	47720465	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47720465C>T	uc001rta.2	-	c.7355G>A	c.(7354-7356)CGC>CAC	p.R2452H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2452	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 gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29														0.458015	155.753187	155.956856	60	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47720465	47720465	10011	12	C	T	T	27	27	MLL2	T	1	1
MLL2	8085	broad.mit.edu	36	12	47724492	47724492	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47724492C>T	uc001rta.2	-	c.5044G>A	c.(5044-5046)GAG>AAG	p.E1682K		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1682					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29												OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.230088	115.485105	130.578573	52	174	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47724492	47724492	10011	12	C	T	T	31	31	MLL2	T	1	1
RHEBL1	121268	broad.mit.edu	36	12	47746567	47746567	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47746567C>A	uc001rtc.1	-	c.291G>T	c.(289-291)GAG>GAT	p.E97D	RHEBL1_uc001rtd.1_Missense_Mutation_p.E93D|RHEBL1_uc009zlc.1_Non-coding_Transcript	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	97					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			lung(1)	1														0.438495	824.66212	826.950201	303	388	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47746567	47746567	13804	12	C	A	A	32	32	RHEBL1	A	3	3
LMBR1L	55716	broad.mit.edu	36	12	47785973	47785973	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47785973C>T	uc001rth.2	-	c.191_splice	c.e3+1	p.A64_splice	LMBR1L_uc001rtg.2_Splice_Site_SNP_p.A59_splice|LMBR1L_uc001rti.2_Splice_Site_SNP_p.A64_splice|LMBR1L_uc001rtj.1_5'Flank|LMBR1L_uc009zld.1_Splice_Site_SNP	NM_018113	NP_060583			lipocalin-interacting membrane receptor						endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1														0.225	53.962674	62.303706	27	93	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	47785973	47785973	9170	12	C	T	T	19	19	LMBR1L	T	5	1
TUBA1B	10376	broad.mit.edu	36	12	47808122	47808122	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47808122C>T	uc001rtm.1	-	c.1242G>A	c.(1240-1242)GAG>GAA	p.E414E	TUBA1B_uc001rto.1_Silent_p.E379E|TUBA1B_uc001rtk.1_Silent_p.E379E|TUBA1B_uc001rtl.1_Silent_p.E379E|TUBA1B_uc001rtn.1_Silent_p.E261E	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	414					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0														0.232639	164.166968	183.02487	67	221	CC		KEEP	---	---	---	---	capture			Silent	SNP	47808122	47808122	17299	12	C	T	T	24	24	TUBA1B	T	2	2
TUBA1A	7846	broad.mit.edu	36	12	47865765	47865765	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47865765G>A	uc009zlf.1	-	c.651C>T	c.(649-651)CTC>CTT	p.L217L	TUBA1B_uc001rto.1_Intron|TUBA1A_uc001rtp.1_Silent_p.L217L|TUBA1A_uc001rtq.1_Silent_p.L64L|TUBA1A_uc001rtr.1_Silent_p.L64L|TUBA1A_uc009zlg.1_Silent_p.L64L	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	217					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)								0.428571	293.970728	295.051191	105	140	GG		KEEP	---	---	---	---	capture			Silent	SNP	47865765	47865765	17298	12	G	A	A	37	37	TUBA1A	A	1	1
TUBA1A	7846	broad.mit.edu	36	12	47866793	47866793	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47866793G>A	uc009zlf.1	-	c.94C>T	c.(94-96)CCC>TCC	p.P32S	TUBA1B_uc001rto.1_5'UTR|TUBA1A_uc001rtp.1_Missense_Mutation_p.P32S|TUBA1A_uc001rtq.1_5'UTR|TUBA1A_uc001rtr.1_5'UTR|TUBA1A_uc009zlg.1_Intron	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	32					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)								0.298913	136.7457	143.400138	55	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47866793	47866793	17298	12	G	A	A	42	42	TUBA1A	A	2	2
TROAP	10024	broad.mit.edu	36	12	48010602	48010602	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48010602C>A	uc009zlh.1	+	c.1707C>A	c.(1705-1707)TCC>TCA	p.S569S	TROAP_uc001rtx.2_Silent_p.S569S|TROAP_uc001rty.1_Silent_p.S277S	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	569	4 X 33 AA approximate tandem repeats.|Cys-rich.|2.				cell adhesion	cytoplasm				ovary(1)	1														0.397906	200.042035	201.788551	76	115	CC		KEEP	---	---	---	---	capture			Silent	SNP	48010602	48010602	17126	12	C	A	A	24	24	TROAP	A	3	3
KCNH3	23416	broad.mit.edu	36	12	48230370	48230370	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48230370G>A	uc001ruh.1	+	c.1909G>A	c.(1909-1911)GCC>ACC	p.A637T		NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	637	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0														0.176101	46.629829	62.339973	28	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48230370	48230370	8338	12	G	A	A	38	38	KCNH3	A	1	1
TMBIM6	7009	broad.mit.edu	36	12	48422293	48422293	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48422293G>A	uc001ruy.2	+	c.107G>A	c.(106-108)GGC>GAC	p.G36D	TMBIM6_uc001rux.2_Intron|TMBIM6_uc001ruz.2_5'UTR	NM_001098576	NP_001092046	P55061	BI1_HUMAN	testis enhanced gene transcript (BAX inhibitor	Error:Variant_position_missing_in_P55061_after_alignment					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus					0														0.180328	19.714694	25.556945	11	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48422293	48422293	16513	12	G	A	A	42	42	TMBIM6	A	2	2
TMBIM6	7009	broad.mit.edu	36	12	48439309	48439309	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48439309C>T	uc001ruy.2	+	c.726C>T	c.(724-726)TTC>TTT	p.F242F	TMBIM6_uc001rux.2_Silent_p.F184F|TMBIM6_uc001ruz.2_Silent_p.F184F	NM_001098576	NP_001092046	P55061	BI1_HUMAN	testis enhanced gene transcript (BAX inhibitor	184	Helical; (Potential).				apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus					0														0.498403	451.778578	451.779277	156	157	CC		KEEP	---	---	---	---	capture			Silent	SNP	48439309	48439309	16513	12	C	T	T	31	31	TMBIM6	T	1	1
TMBIM6	7009	broad.mit.edu	36	12	48442935	48442935	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48442935G>A	uc001ruy.2	+	c.877G>A	c.(877-879)GAG>AAG	p.E293K	TMBIM6_uc001rux.2_Missense_Mutation_p.E235K|TMBIM6_uc001ruz.2_Missense_Mutation_p.E235K	NM_001098576	NP_001092046	P55061	BI1_HUMAN	testis enhanced gene transcript (BAX inhibitor	235					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus					0												OREG0021802	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.185668	121.498375	149.9275	57	250	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48442935	48442935	16513	12	G	A	A	33	33	TMBIM6	A	2	2
FAIM2	23017	broad.mit.edu	36	12	48550562	48550562	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48550562G>A	uc001rvj.1	-	c.943C>T	c.(943-945)CGA>TGA	p.R315*	FAIM2_uc001rvi.1_Nonsense_Mutation_p.R269*|FAIM2_uc001rvk.1_Non-coding_Transcript	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	315					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)	2														0.206667	68.372176	80.315011	31	119	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	48550562	48550562	5573	12	G	A	A	39	39	FAIM2	A	5	1
FAIM2	23017	broad.mit.edu	36	12	48581355	48581355	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48581355G>A	uc001rvj.1	-	c.36C>T	c.(34-36)GCC>GCT	p.A12A	FAIM2_uc001rvi.1_5'UTR|FAIM2_uc001rvk.1_Non-coding_Transcript	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	12					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)	2														0.510989	291.772361	291.791363	93	89	GG		KEEP	---	---	---	---	capture			Silent	SNP	48581355	48581355	5573	12	G	A	A	43	43	FAIM2	A	2	2
SMARCD1	6602	broad.mit.edu	36	12	48774565	48774565	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48774565G>T	uc001rvx.2	+	c.1212G>T	c.(1210-1212)ATG>ATT	p.M404I	SMARCD1_uc001rvy.2_Missense_Mutation_p.M404I|SMARCD1_uc009zlp.1_Missense_Mutation_p.M363I	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	SWI/SNF-related matrix-associated	404	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			ovary(1)	1														0.210526	128.695534	153.766884	68	255	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48774565	48774565	15275	12	G	T	T	45	45	SMARCD1	T	3	3
GPD1	2819	broad.mit.edu	36	12	48786393	48786393	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48786393G>A	uc001rvz.1	+	c.416G>A	c.(415-417)CGC>CAC	p.R139H	GPD1_uc001rwa.1_Missense_Mutation_p.R116H	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	139					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	NSCLC(141;1402 1905 9497 13391 44868)								0.15873	13.805699	20.813638	10	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48786393	48786393	6878	12	G	A	A	38	38	GPD1	A	1	1
LASS5	91012	broad.mit.edu	36	12	48823179	48823179	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48823179G>A	uc001rwd.2	-	c.379C>T	c.(379-381)CGC>TGC	p.R127C	LASS5_uc001rwc.1_Missense_Mutation_p.R46C|LASS5_uc001rwe.2_Missense_Mutation_p.R68C|LASS5_uc001rwf.2_Non-coding_Transcript	NM_147190	NP_671723	Q8N5B7	LASS5_HUMAN	LAG1 homolog, ceramide synthase 5	127	Cytoplasmic (Potential).|Homeobox.				ceramide biosynthetic process|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0														0.257002	359.230658	391.721335	156	451	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48823179	48823179	8965	12	G	A	A	37	37	LASS5	A	1	1
KCNA1	3736	broad.mit.edu	36	12	4891376	4891376	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4891376G>A	uc001qnh.1	+	c.571G>A	c.(571-573)GAG>AAG	p.E191K	KCNA1_uc009zej.1_Missense_Mutation_p.E191K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	191					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)	1					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.210227	73.502074	87.162695	37	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4891376	4891376	8306	12	G	A	A	37	37	KCNA1	A	1	1
KCNA1	3736	broad.mit.edu	36	12	4891811	4891811	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4891811G>A	uc001qnh.1	+	c.1006G>A	c.(1006-1008)GGG>AGG	p.G336R	KCNA1_uc009zej.1_Missense_Mutation_p.G336R	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	336	Helical; Name=Segment S5; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)	1					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.219355	146.222125	168.737467	68	242	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4891811	4891811	8306	12	G	A	A	39	39	KCNA1	A	1	1
LARP4	113251	broad.mit.edu	36	12	49115623	49115623	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:49115623G>T	uc001rwo.1	+	c.502G>T	c.(502-504)GAA>TAA	p.E168*	LARP4_uc001rwp.1_Nonsense_Mutation_p.E162*|LARP4_uc001rwq.1_Nonsense_Mutation_p.E162*|LARP4_uc001rwr.1_Nonsense_Mutation_p.E162*|LARP4_uc001rws.1_Nonsense_Mutation_p.E161*|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Nonsense_Mutation_p.E162*|LARP4_uc001rwn.2_Nonsense_Mutation_p.E92*	NM_199188	NP_954658	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform b	162	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(1)	1														0.242938	91.927277	102.600376	43	134	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49115623	49115623	8953	12	G	T	T	33	33	LARP4	T	5	3
DIP2B	57609	broad.mit.edu	36	12	49386643	49386643	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:49386643G>A	uc001rwv.1	+	c.2462G>A	c.(2461-2463)CGA>CAA	p.R821Q	DIP2B_uc009zlt.1_Missense_Mutation_p.R251Q	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	821						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6														0.197531	93.47908	114.178735	48	195	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49386643	49386643	4707	12	G	A	A	37	37	DIP2B	A	1	1
SLC11A2	4891	broad.mit.edu	36	12	49675801	49675801	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:49675801G>A	uc001rxk.1	-	c.955C>T	c.(955-957)CGA>TGA	p.R319*	SLC11A2_uc001rxd.2_Nonsense_Mutation_p.R139*|SLC11A2_uc001rxc.2_Nonsense_Mutation_p.R290*|SLC11A2_uc001rxe.2_Nonsense_Mutation_p.R290*|SLC11A2_uc001rxf.1_Non-coding_Transcript|SLC11A2_uc001rxh.1_Nonsense_Mutation_p.R290*|SLC11A2_uc001rxi.1_Nonsense_Mutation_p.R290*|SLC11A2_uc001rxj.1_Nonsense_Mutation_p.R290*|SLC11A2_uc001rxg.1_5'Flank	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	290	Cytoplasmic (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1														0.307018	82.735459	86.494505	35	79	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49675801	49675801	14876	12	G	A	A	37	37	SLC11A2	A	5	1
LETMD1	25875	broad.mit.edu	36	12	49732172	49732172	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:49732172A>C	uc009zlw.1	+	c.305A>C	c.(304-306)AAG>ACG	p.K102T	LETMD1_uc001rxl.1_Missense_Mutation_p.K46T|LETMD1_uc009zlv.1_Intron|LETMD1_uc001rxs.1_Intron|LETMD1_uc001rxm.1_Missense_Mutation_p.K102T|LETMD1_uc001rxn.1_Intron|LETMD1_uc001rxo.1_Intron|LETMD1_uc001rxp.1_Intron|LETMD1_uc001rxq.1_Missense_Mutation_p.K102T|LETMD1_uc001rxr.1_Intron|LETMD1_uc001rxt.1_Intron	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	102	Cytoplasmic (Potential).|LETM1.|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2														0.174497	52.453197	67.355559	26	123	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49732172	49732172	9060	12	A	C	C	3	3	LETMD1	C	4	4
LETMD1	25875	broad.mit.edu	36	12	49736455	49736455	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:49736455G>T	uc009zlw.1	+	c.857G>T	c.(856-858)AGA>ATA	p.R286I	LETMD1_uc001rxl.1_Missense_Mutation_p.R217I|LETMD1_uc009zlv.1_Non-coding_Transcript|LETMD1_uc001rxs.1_Missense_Mutation_p.E110D|LETMD1_uc001rxm.1_Missense_Mutation_p.R273I|LETMD1_uc001rxn.1_Missense_Mutation_p.R116I|LETMD1_uc001rxo.1_Non-coding_Transcript|LETMD1_uc001rxp.1_Missense_Mutation_p.R156I|LETMD1_uc001rxq.1_Missense_Mutation_p.R149I|LETMD1_uc001rxr.1_Non-coding_Transcript|LETMD1_uc001rxt.1_Missense_Mutation_p.R13I	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	273	Mitochondrial intermembrane (Potential).|LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2														0.24	187.427306	210.599869	90	285	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49736455	49736455	9060	12	G	T	T	33	33	LETMD1	T	3	3
POU6F1	5463	broad.mit.edu	36	12	49870558	49870558	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:49870558C>T	uc001rxy.1	-	c.645G>A	c.(643-645)CGG>CGA	p.R215R	POU6F1_uc001rxz.1_Silent_p.R215R|POU6F1_uc001rya.1_Silent_p.R215R	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	215					brain development|heart development|muscle organ development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.214669	253.909496	295.926078	120	439	CC		KEEP	---	---	---	---	capture			Silent	SNP	49870558	49870558	12714	12	C	T	T	30	30	POU6F1	T	2	2
SMAGP	57228	broad.mit.edu	36	12	49926160	49926160	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:49926160G>A	uc001ryc.1	-	c.126C>T	c.(124-126)ACC>ACT	p.T42T	SMAGP_uc001rye.1_Silent_p.T42T|SMAGP_uc001ryf.1_Non-coding_Transcript|SMAGP_uc001ryd.1_Silent_p.T42T	NM_020467	NP_065200	Q0VAQ4	SMAGP_HUMAN	small trans-membrane and glycosylated protein	42	Helical; Signal-anchor for type III membrane protein; (Potential).					cytoplasmic vesicle membrane|integral to membrane|plasma membrane					0														0.204301	89.702584	104.752603	38	148	GG		KEEP	---	---	---	---	capture			Silent	SNP	49926160	49926160	15263	12	G	A	A	39	39	SMAGP	A	1	1
CELA1	1990	broad.mit.edu	36	12	50022667	50022667	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50022667G>A	uc001ryi.1	-	c.285C>T	c.(283-285)ATC>ATT	p.I95I		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	elastase 1, pancreatic	95	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			breast(1)	1														0.190635	108.379813	135.076282	57	242	GG		KEEP	---	---	---	---	capture			Silent	SNP	50022667	50022667	3343	12	G	A	A	37	37	CELA1	A	1	1
CELA1	1990	broad.mit.edu	36	12	50023811	50023811	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50023811C>T	uc001ryi.1	-	c.193G>A	c.(193-195)GTG>ATG	p.V65M		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	elastase 1, pancreatic	65	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			breast(1)	1														0.376344	91.195866	92.446078	35	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50023811	50023811	3343	12	C	T	T	19	19	CELA1	T	1	1
GALNT6	11226	broad.mit.edu	36	12	50044357	50044357	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50044357C>A	uc001ryk.1	-	c.864G>T	c.(862-864)GAG>GAT	p.E288D	GALNT6_uc001ryl.1_Missense_Mutation_p.E288D|GALNT6_uc009zma.1_Non-coding_Transcript	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	288	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2														0.235955	44.050204	49.711718	21	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50044357	50044357	6481	12	C	A	A	24	24	GALNT6	A	3	3
GALNT6	11226	broad.mit.edu	36	12	50059565	50059565	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50059565G>A	uc001ryk.1	-	c.268C>T	c.(268-270)CTC>TTC	p.L90F	GALNT6_uc001ryl.1_Missense_Mutation_p.L90F|GALNT6_uc009zma.1_Non-coding_Transcript	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	90	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2														0.214765	153.161622	175.526822	64	234	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50059565	50059565	6481	12	G	A	A	35	35	GALNT6	A	2	2
KCNA5	3741	broad.mit.edu	36	12	5025408	5025408	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5025408G>T	uc001qni.1	+	c.1834G>T	c.(1834-1836)GAT>TAT	p.D612Y		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	612	PDZ-binding (By similarity).					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4														0.486842	98.831307	98.843911	37	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5025408	5025408	8311	12	G	T	T	33	33	KCNA5	T	3	3
SCN8A	6334	broad.mit.edu	36	12	50367185	50367185	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50367185A>T	uc001ryw.1	+	c.529A>T	c.(529-531)ATC>TTC	p.I177F	SCN8A_uc001ryx.1_Missense_Mutation_p.I42F|SCN8A_uc001ryz.1_Missense_Mutation_p.I42F|SCN8A_uc001ryy.2_Missense_Mutation_p.I42F	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	177	Helical; Name=S2 of repeat I; (Potential).|I.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier|voltage-gated sodium channel complex	ATP binding|voltage-gated sodium channel activity			ovary(7)	7					Lamotrigine(DB00555)									0.181818	55.557553	71.250191	30	135	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.181)	Missense_Mutation	SNP	50367185	50367185	14406	12	A	T	T	4	4	SCN8A	T	4	4
SCN8A	6334	broad.mit.edu	36	12	50454280	50454280	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50454280G>A	uc001ryw.1	+	c.3686G>A	c.(3685-3687)CGC>CAC	p.R1229H	SCN8A_uc001rza.1_Non-coding_Transcript	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1229	III.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier|voltage-gated sodium channel complex	ATP binding|voltage-gated sodium channel activity			ovary(7)	7					Lamotrigine(DB00555)									0.184524	56.360709	72.02107	31	137	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.181)	Missense_Mutation	SNP	50454280	50454280	14406	12	G	A	A	38	38	SCN8A	A	1	1
SCN8A	6334	broad.mit.edu	36	12	50466852	50466852	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50466852C>T	uc001ryw.1	+	c.4202C>T	c.(4201-4203)GCA>GTA	p.A1401V	SCN8A_uc001rza.1_Non-coding_Transcript	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1401	III.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier|voltage-gated sodium channel complex	ATP binding|voltage-gated sodium channel activity			ovary(7)	7					Lamotrigine(DB00555)									0.222222	32.156447	37.272818	16	56	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.181)	Missense_Mutation	SNP	50466852	50466852	14406	12	C	T	T	25	25	SCN8A	T	2	2
SCN8A	6334	broad.mit.edu	36	12	50486922	50486922	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50486922C>T	uc001ryw.1	+	c.5385C>T	c.(5383-5385)TTC>TTT	p.F1795F		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1795	IV.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier|voltage-gated sodium channel complex	ATP binding|voltage-gated sodium channel activity			ovary(7)	7					Lamotrigine(DB00555)									0.409283	262.610257	264.31794	97	140	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.181)	Silent	SNP	50486922	50486922	14406	12	C	T	T	31	31	SCN8A	T	1	1
FIGNL2	401720	broad.mit.edu	36	12	50502213	50502213	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50502213G>A	uc001rzc.1	-	c.252C>T	c.(250-252)AGC>AGT	p.S84S		NM_001013690	NP_001013712			fidgetin-like 2												0														0.304348	17.117719	17.90259	7	16	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.135)	Silent	SNP	50502213	50502213	6131	12	G	A	A	38	38	FIGNL2	A	1	1
ACVRL1	94	broad.mit.edu	36	12	50596200	50596200	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50596200G>A	uc001rzj.1	+	c.1162G>A	c.(1162-1164)GAC>AAC	p.D388N	ACVRL1_uc001rzk.1_Missense_Mutation_p.D388N	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	388	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|protein phosphorylation|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2					Adenosine triphosphate(DB00171)					321				0.216783	65.246694	75.828578	31	112	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0991)	Missense_Mutation	SNP	50596200	50596200	226	12	G	A	A	41	41	ACVRL1	A	2	2
GRASP	160622	broad.mit.edu	36	12	50693927	50693927	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50693927G>A	uc001rzo.1	+	c.549_splice	c.e6-1	p.R183_splice	GRASP_uc001rzp.1_Splice_Site_SNP_p.R40_splice	NM_181711	NP_859062			GRP1 (general receptor for phosphoinositides							cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)	1														0.22658	246.439511	277.959504	104	355	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0967)	Splice_Site_SNP	SNP	50693927	50693927	7032	12	G	A	A	33	33	GRASP	A	5	2
GRASP	160622	broad.mit.edu	36	12	50695164	50695164	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50695164A>G	uc001rzo.1	+	c.1102A>G	c.(1102-1104)ACC>GCC	p.T368A	GRASP_uc001rzp.1_Missense_Mutation_p.T225A	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides	368						cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)	1														0.333333	11.696274	11.991344	4	8	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0967)	Missense_Mutation	SNP	50695164	50695164	7032	12	A	G	G	2	2	GRASP	G	4	4
KRT80	144501	broad.mit.edu	36	12	50852336	50852336	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50852336C>T	uc001rzw.1	-	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	KRT80_uc001rzx.1_Missense_Mutation_p.R364H|KRT80_uc001rzy.1_Missense_Mutation_p.R364H	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	keratin 80 isoform a	364	Rod.|Coil 2.					keratin filament	structural molecule activity				0						GBM(178;2309 2916 15678 35873)								0.226316	85.273266	98.254529	43	147	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.108)	Missense_Mutation	SNP	50852336	50852336	8809	12	C	T	T	27	27	KRT80	T	1	1
KRT7	3855	broad.mit.edu	36	12	50921605	50921605	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50921605G>A	uc001saa.1	+	c.776G>A	c.(775-777)GGC>GAC	p.G259D	KRT7_uc009zmf.1_Missense_Mutation_p.G259D	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	259	Rod.|Linker 12.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0														0.496732	213.640584	213.641354	76	77	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.105)	Missense_Mutation	SNP	50921605	50921605	8798	12	G	A	A	42	42	KRT7	A	2	2
KRT81	3887	broad.mit.edu	36	12	50971489	50971489	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50971489G>A	uc001sab.1	-	c.28C>T	c.(28-30)CGC>TGC	p.R10C	KRT86_uc009zmg.1_Intron|KRT81_uc001sac.1_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	10	Head.					keratin filament	protein binding|structural molecule activity				0														0.533333	38.561116	38.587708	16	14	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.189)	Missense_Mutation	SNP	50971489	50971489	8810	12	G	A	A	38	38	KRT81	A	1	1
KRT83	3889	broad.mit.edu	36	12	50996112	50996112	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50996112G>A	uc001saf.2	-	c.1094C>T	c.(1093-1095)GCC>GTC	p.A365V		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	365	Rod.|Coil 2.				epidermis development	keratin filament	structural molecule activity				0	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)								0.204082	35.801278	43.371039	20	78	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.189)	Missense_Mutation	SNP	50996112	50996112	8812	12	G	A	A	42	42	KRT83	A	2	2
KRT84	3890	broad.mit.edu	36	12	51065559	51065559	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51065559C>A	uc001sah.1	-	c.78G>T	c.(76-78)CAG>CAT	p.Q26H		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	26	Head.					keratin filament	structural constituent of epidermis				0	all_hematologic(5;0.12)													0.412969	311.049364	313.003369	121	172	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.189)	Missense_Mutation	SNP	51065559	51065559	8813	12	C	A	A	32	32	KRT84	A	3	3
KRT82	3888	broad.mit.edu	36	12	51076961	51076961	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51076961C>A	uc001sai.1	-	c.1041G>T	c.(1039-1041)CAG>CAT	p.Q347H		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	347	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)	1														0.433824	161.591874	162.113015	59	77	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.193)	Missense_Mutation	SNP	51076961	51076961	8811	12	C	A	A	28	28	KRT82	A	3	3
KRT82	3888	broad.mit.edu	36	12	51083877	51083877	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51083877G>A	uc001sai.1	-	c.495C>T	c.(493-495)ATC>ATT	p.I165I		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	165	Linker 1.|Rod.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)	1														0.411765	215.940685	217.211621	77	110	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.193)	Silent	SNP	51083877	51083877	8811	12	G	A	A	37	37	KRT82	A	1	1
KRT6C	286887	broad.mit.edu	36	12	51152178	51152178	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51152178G>A	uc001sal.2	-	c.694C>T	c.(694-696)CGG>TGG	p.R232W		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	232	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2														0.218837	154.31685	180.576766	79	282	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0828)	Missense_Mutation	SNP	51152178	51152178	8797	12	G	A	A	40	40	KRT6C	A	1	1
KRT6A	3853	broad.mit.edu	36	12	51171200	51171200	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51171200C>T	uc001sam.1	-	c.779G>A	c.(778-780)CGC>CAC	p.R260H		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	260	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.R260H(1)		ovary(4)	4														0.170635	74.085757	99.933449	43	209	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.189)	Missense_Mutation	SNP	51171200	51171200	8795	12	C	T	T	27	27	KRT6A	T	1	1
KRT5	3852	broad.mit.edu	36	12	51200277	51200277	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51200277G>T	uc001san.1	-	c.71C>A	c.(70-72)ACC>AAC	p.T24N	KRT5_uc009zmh.1_Missense_Mutation_p.T24N	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	24	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0														0.238636	46.232498	51.723551	21	67	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.189)	Missense_Mutation	SNP	51200277	51200277	8794	12	G	T	T	44	44	KRT5	T	3	3
KRT72	140807	broad.mit.edu	36	12	51267720	51267720	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51267720G>A	uc001saq.1	-	c.1272C>T	c.(1270-1272)ATC>ATT	p.I424I	KRT72_uc001sar.1_Silent_p.I424I	NM_080747	NP_542785	Q14CN4	K2C72_HUMAN	keratin 72	424	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6														0.217617	81.551882	95.747433	42	151	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.195)	Silent	SNP	51267720	51267720	8800	12	G	A	A	37	37	KRT72	A	1	1
KRT72	140807	broad.mit.edu	36	12	51270947	51270947	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51270947G>A	uc001saq.1	-	c.1029C>T	c.(1027-1029)ATC>ATT	p.I343I	KRT72_uc001sar.1_Silent_p.I343I	NM_080747	NP_542785	Q14CN4	K2C72_HUMAN	keratin 72	343	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6														0.212963	103.824873	120.27496	46	170	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.195)	Silent	SNP	51270947	51270947	8800	12	G	A	A	33	33	KRT72	A	2	2
KRT72	140807	broad.mit.edu	36	12	51279143	51279143	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51279143C>A	uc001saq.1	-	c.447G>T	c.(445-447)CAG>CAT	p.Q149H	KRT72_uc001sar.1_Missense_Mutation_p.Q149H	NM_080747	NP_542785	Q14CN4	K2C72_HUMAN	keratin 72	149	Coil 1A.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6														0.45098	186.039589	186.361818	69	84	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.195)	Missense_Mutation	SNP	51279143	51279143	8800	12	C	A	A	32	32	KRT72	A	3	3
KRT72	140807	broad.mit.edu	36	12	51281096	51281096	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51281096G>A	uc001saq.1	-	c.408C>T	c.(406-408)TTC>TTT	p.F136F	KRT72_uc001sar.1_Silent_p.F136F	NM_080747	NP_542785	Q14CN4	K2C72_HUMAN	keratin 72	136	Coil 1A.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6														0.530387	282.299205	282.444274	96	85	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.195)	Silent	SNP	51281096	51281096	8800	12	G	A	A	37	37	KRT72	A	1	1
KRT2	3849	broad.mit.edu	36	12	51331626	51331626	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51331626C>T	uc001sat.1	-	c.568G>A	c.(568-570)GCC>ACC	p.A190T		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	190	Coil 1A.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2														0.172222	46.098375	64.395607	31	149	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.19)	Missense_Mutation	SNP	51331626	51331626	8772	12	C	T	T	25	25	KRT2	T	2	2
KRT2	3849	broad.mit.edu	36	12	51332068	51332068	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51332068G>T	uc001sat.1	-	c.126C>A	c.(124-126)TGC>TGA	p.C42*		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	42	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2														0.265625	37.941673	41.122458	17	47	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.19)	Nonsense_Mutation	SNP	51332068	51332068	8772	12	G	T	T	34	34	KRT2	T	5	3
KRT77	374454	broad.mit.edu	36	12	51377919	51377919	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51377919A>G	uc001saw.1	-	c.572T>C	c.(571-573)GTG>GCG	p.V191A	KRT77_uc009zmi.1_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	191	Coil 1A.|Rod.					keratin filament	structural molecule activity			ovary(1)	1														0.433735	558.07637	559.672284	180	235	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51377919	51377919	8805	12	A	G	G	6	6	KRT77	G	4	4
KRT76	51350	broad.mit.edu	36	12	51453670	51453670	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51453670C>T	uc001sax.1	-	c.839G>A	c.(838-840)CGC>CAC	p.R280H		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	280	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)	1														0.286624	107.907705	114.322982	45	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51453670	51453670	8804	12	C	T	T	27	27	KRT76	T	1	1
KRT3	3850	broad.mit.edu	36	12	51475693	51475693	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51475693G>A	uc001say.1	-	c.401C>T	c.(400-402)GCT>GTT	p.A134V		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	134	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0														0.205128	15.573545	18.72515	8	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51475693	51475693	8781	12	G	A	A	34	34	KRT3	A	2	2
KRT4	3851	broad.mit.edu	36	12	51492027	51492027	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51492027A>G	uc001saz.1	-	c.686T>C	c.(685-687)GTG>GCG	p.V229A		NM_002272	NP_002263	P19013	K2C4_HUMAN	keratin 4	169	Coil 1A.|Rod.				cytoskeleton organization|epithelial cell differentiation|negative regulation of epithelial cell proliferation	keratin filament	structural molecule activity			ovary(4)	4						Pancreas(190;284 2995 41444 45903)								0.511111	72.929083	72.934108	23	22	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51492027	51492027	8792	12	A	G	G	6	6	KRT4	G	4	4
KRT79	338785	broad.mit.edu	36	12	51513852	51513852	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51513852C>T	uc001sbb.1	-	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	154	Rod.|Coil 1A.					keratin filament	structural molecule activity			ovary(2)	2														0.4	333.131892	335.986714	130	195	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51513852	51513852	8807	12	C	T	T	27	27	KRT79	T	1	1
KRT8	3856	broad.mit.edu	36	12	51578773	51578773	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51578773C>T	uc009zmk.1	-	c.1243G>A	c.(1243-1245)GAG>AAG	p.E415K	KRT8_uc001sbd.1_Missense_Mutation_p.E387K|KRT8_uc009zmj.1_Intron|KRT8_uc009zml.1_Missense_Mutation_p.E387K|KRT8_uc009zmm.1_Missense_Mutation_p.E387K	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	387	Rod.|Coil 2.			E -> D (in Ref. 2; AAA35748).	cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.452489	278.655863	279.091645	100	121	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.108)	Missense_Mutation	SNP	51578773	51578773	8808	12	C	T	T	31	31	KRT8	T	1	1
KRT8	3856	broad.mit.edu	36	12	51578834	51578834	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51578834G>A	uc009zmk.1	-	c.1182C>T	c.(1180-1182)GAC>GAT	p.D394D	KRT8_uc001sbd.1_Silent_p.D366D|KRT8_uc009zmj.1_Intron|KRT8_uc009zml.1_Silent_p.D366D|KRT8_uc009zmm.1_Silent_p.D366D	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	366	Necessary for interaction with PNN.|Rod.|Coil 2.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.169903	51.488938	72.752216	35	171	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.108)	Silent	SNP	51578834	51578834	8808	12	G	A	A	48	48	KRT8	A	2	2
KRT8	3856	broad.mit.edu	36	12	51580068	51580068	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51580068A>G	uc009zmk.1	-	c.823T>C	c.(823-825)TCC>CCC	p.S275P	KRT8_uc001sbd.1_Missense_Mutation_p.S247P|KRT8_uc009zmj.1_Missense_Mutation_p.S247P|KRT8_uc009zml.1_Missense_Mutation_p.S247P|KRT8_uc009zmm.1_Missense_Mutation_p.S247P	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	247	Linker 12.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.52	129.327444	129.35371	39	36	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.108)	Missense_Mutation	SNP	51580068	51580068	8808	12	A	G	G	10	10	KRT8	G	4	4
KRT18	3875	broad.mit.edu	36	12	51631599	51631599	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51631599C>A	uc001sbe.1	+	c.725C>A	c.(724-726)TCT>TAT	p.S242Y	KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank|KRT18_uc009zmn.1_Missense_Mutation_p.S242Y|KRT18_uc001sbf.1_Missense_Mutation_p.S69Y|KRT18_uc001sbg.1_Missense_Mutation_p.S242Y|KRT18_uc009zmo.1_Missense_Mutation_p.S242Y	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	242	Linker 12.|Rod.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity				0														0.248485	87.285459	96.7893	41	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51631599	51631599	8770	12	C	A	A	32	32	KRT18	A	3	3
EIF4B	1975	broad.mit.edu	36	12	51713883	51713883	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51713883C>A	uc001sbh.2	+	c.1006C>A	c.(1006-1008)CTA>ATA	p.L336I	EIF4B_uc001sbi.1_Missense_Mutation_p.L88I|EIF4B_uc009zmq.1_Non-coding_Transcript	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	336					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2										304				0.236364	53.683102	60.682879	26	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51713883	51713883	5218	12	C	A	A	32	32	EIF4B	A	3	3
TENC1	23371	broad.mit.edu	36	12	51735726	51735726	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51735726C>T	uc001sbn.1	+	c.711C>T	c.(709-711)GTC>GTT	p.V237V	TENC1_uc001sbl.1_Silent_p.V103V|TENC1_uc001sbm.2_Silent_p.V237V|TENC1_uc001sbo.1_Silent_p.V227V|TENC1_uc001sbp.1_Silent_p.V227V|TENC1_uc001sbq.1_5'Flank|TENC1_uc001sbr.1_5'Flank	NM_015319	NP_938072	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	227	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			pancreas(1)	1														0.203175	125.514424	151.299491	64	251	CC		KEEP	---	---	---	---	capture			Silent	SNP	51735726	51735726	16285	12	C	T	T	31	31	TENC1	T	1	1
TENC1	23371	broad.mit.edu	36	12	51737694	51737694	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51737694C>T	uc001sbn.1	+	c.952C>T	c.(952-954)CTC>TTC	p.L318F	TENC1_uc001sbl.1_Missense_Mutation_p.L184F|TENC1_uc001sbo.1_Missense_Mutation_p.L308F|TENC1_uc001sbp.1_Missense_Mutation_p.L308F|TENC1_uc001sbq.1_5'Flank|TENC1_uc001sbr.1_5'Flank|TENC1_uc009zmr.1_5'Flank	NM_015319	NP_938072	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	308	C2 tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			pancreas(1)	1														0.176842	168.992744	215.747591	84	391	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51737694	51737694	16285	12	C	T	T	28	28	TENC1	T	2	2
CSAD	51380	broad.mit.edu	36	12	51838698	51838698	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51838698C>T	uc001sbx.1	-	c.1346G>A	c.(1345-1347)GGC>GAC	p.G449D	CSAD_uc001sbw.1_Missense_Mutation_p.G302D|CSAD_uc009zmt.1_Missense_Mutation_p.G231D|CSAD_uc001sby.1_Missense_Mutation_p.G449D|CSAD_uc001sbz.1_Missense_Mutation_p.G449D|CSAD_uc009zmu.1_Missense_Mutation_p.G302D|CSAD_uc001sca.2_Intron	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	449					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	Ovarian(109;252 1546 16882 28524 44645)								0.426471	79.275001	79.592387	29	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51838698	51838698	4064	12	C	T	T	26	26	CSAD	T	2	2
CSAD	51380	broad.mit.edu	36	12	51840261	51840261	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51840261C>T	uc001sbx.1	-	c.1076G>A	c.(1075-1077)CGT>CAT	p.R359H	CSAD_uc001sbw.1_Missense_Mutation_p.R212H|CSAD_uc009zmt.1_Missense_Mutation_p.R141H|CSAD_uc001sby.1_Missense_Mutation_p.R359H|CSAD_uc001sbz.1_Missense_Mutation_p.R359H|CSAD_uc009zmu.1_Missense_Mutation_p.R212H|CSAD_uc001sca.2_Non-coding_Transcript	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	359					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	Ovarian(109;252 1546 16882 28524 44645)								0.191358	53.253207	67.666305	31	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51840261	51840261	4064	12	C	T	T	19	19	CSAD	T	1	1
ESPL1	9700	broad.mit.edu	36	12	51949143	51949143	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51949143T>C	uc001sck.2	+	c.150T>C	c.(148-150)TGT>TGC	p.C50C	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	extra spindle poles like 1	50					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)	2						Colon(53;1069 1201 2587 5382)								0.435233	245.475397	246.179268	84	109	TT		KEEP	---	---	---	---	capture			Silent	SNP	51949143	51949143	5446	12	T	C	C	59	59	ESPL1	C	4	4
ESPL1	9700	broad.mit.edu	36	12	51949289	51949289	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51949289G>A	uc001sck.2	+	c.296G>A	c.(295-297)CGA>CAA	p.R99Q	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	extra spindle poles like 1	99					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)	2						Colon(53;1069 1201 2587 5382)								0.413793	229.861073	231.177993	84	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51949289	51949289	5446	12	G	A	A	37	37	ESPL1	A	1	1
ESPL1	9700	broad.mit.edu	36	12	51970479	51970479	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51970479G>T	uc001sck.2	+	c.5323G>T	c.(5323-5325)GAA>TAA	p.E1775*	ESPL1_uc001scj.2_Nonsense_Mutation_p.E1450*	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	extra spindle poles like 1	1775					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)	2						Colon(53;1069 1201 2587 5382)								0.465753	183.375995	183.525587	68	78	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	51970479	51970479	5446	12	G	T	T	33	33	ESPL1	T	5	3
SP1	6667	broad.mit.edu	36	12	52062485	52062485	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52062485G>T	uc001scw.1	+	c.487G>T	c.(487-489)GGA>TGA	p.G163*		NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	163	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter, global	cytoplasm|nucleus	double-stranded DNA binding|histone deacetylase binding|promoter binding|protein C-terminus binding|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3										103				0.431579	223.522779	224.296802	82	108	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.00527)	Nonsense_Mutation	SNP	52062485	52062485	15459	12	G	T	T	35	35	SP1	T	5	3
SP1	6667	broad.mit.edu	36	12	52063402	52063402	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52063402G>T	uc001scw.1	+	c.1404G>T	c.(1402-1404)CAG>CAT	p.Q468H		NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	468	Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter, global	cytoplasm|nucleus	double-stranded DNA binding|histone deacetylase binding|promoter binding|protein C-terminus binding|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3										103				0.163194	75.825139	106.897081	47	241	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.00527)	Missense_Mutation	SNP	52063402	52063402	15459	12	G	T	T	34	34	SP1	T	3	3
AMHR2	269	broad.mit.edu	36	12	52111318	52111318	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52111318G>A	uc001scx.1	+	c.1516G>A	c.(1516-1518)GCT>ACT	p.A506T	AMHR2_uc009zmy.1_3'UTR	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	506	Cytoplasmic (Potential).|Protein kinase.				Mullerian duct regression|protein phosphorylation		ATP binding|hormone binding|metal ion binding			ovary(1)	1					Adenosine triphosphate(DB00171)					136				0.205882	96.257964	115.346364	49	189	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52111318	52111318	576	12	G	A	A	42	42	AMHR2	A	2	2
MAP3K12	7786	broad.mit.edu	36	12	52166539	52166539	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52166539C>T	uc001sdn.1	-	c.580G>A	c.(580-582)GAC>AAC	p.D194N	MAP3K12_uc001sdm.1_Missense_Mutation_p.D161N	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	161	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)	4										178				0.445652	116.961842	117.198591	41	51	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52166539	52166539	9629	12	C	T	T	31	31	MAP3K12	T	1	1
TARBP2	6895	broad.mit.edu	36	12	52182146	52182146	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52182146C>T	uc001sdo.1	+	c.134C>T	c.(133-135)ACG>ATG	p.T45M	MAP3K12_uc001sdm.1_5'Flank|MAP3K12_uc001sdn.1_5'Flank|TARBP2_uc009znb.1_Missense_Mutation_p.T45M|TARBP2_uc001sdp.1_Missense_Mutation_p.T24M|TARBP2_uc001sdr.1_De_novo_Start_OutOfFrame|TARBP2_uc001sdq.1_De_novo_Start_OutOfFrame|TARBP2_uc001sds.1_Missense_Mutation_p.T45M|TARBP2_uc001sdt.1_Missense_Mutation_p.T24M|TARBP2_uc001sdu.1_De_novo_Start_InFrame|TARBP2_uc001sdv.1_Non-coding_Transcript	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	45	Sufficient for interaction with PRKRA.|DRBM 1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-microRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1														0.213115	74.416974	88.351497	39	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52182146	52182146	16077	12	C	T	T	19	19	TARBP2	T	1	1
ATP5G2	517	broad.mit.edu	36	12	52345372	52345372	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52345372G>T	uc001sec.1	-	c.590C>A	c.(589-591)GCC>GAC	p.A197D	ATP5G2_uc001sed.1_Missense_Mutation_p.A156D|ATP5G2_uc009znc.1_Missense_Mutation_p.A140D	NM_005176	NP_005167	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	140					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			ovary(1)	1														0.204819	31.524826	38.240904	17	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52345372	52345372	1173	12	G	T	T	42	42	ATP5G2	T	3	3
HOXC11	3227	broad.mit.edu	36	12	52653395	52653395	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52653395C>T	uc001sem.1	+	c.103C>T	c.(103-105)CCC>TCC	p.P35S		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	35					endoderm development|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0										53				0.208661	105.333381	125.30269	53	201	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52653395	52653395	7602	12	C	T	T	26	26	HOXC11	T	2	2
HOXC10	3226	broad.mit.edu	36	12	52665670	52665670	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52665670G>A	uc001sen.1	+	c.360G>A	c.(358-360)GCG>GCA	p.A120A		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	homeobox C10	120					positive regulation of cell proliferation|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1														0.367347	96.680278	98.193624	36	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	52665670	52665670	7601	12	G	A	A	37	37	HOXC10	A	1	1
HOXC9	3225	broad.mit.edu	36	12	52680755	52680755	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52680755G>T	uc001sep.1	+	c.516G>T	c.(514-516)GAG>GAT	p.E172D	HOXC9_uc001seq.1_Missense_Mutation_p.E172D	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	172					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|pancreas(1)	2														0.4	16.245805	16.377312	6	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52680755	52680755	7609	12	G	T	T	35	35	HOXC9	T	3	3
CBX5	23468	broad.mit.edu	36	12	52921844	52921844	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52921844C>T	uc001sfh.2	-	c.538G>A	c.(538-540)GAT>AAT	p.D180N	CBX5_uc001sfk.2_Missense_Mutation_p.D180N|CBX5_uc001sfi.2_Missense_Mutation_p.D179N|CBX5_uc001sfj.2_Missense_Mutation_p.D180N	NM_001127322	NP_001120794	P45973	CBX5_HUMAN	heterochromatin protein 1-alpha	180					blood coagulation|chromatin assembly or disassembly|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	general transcriptional repressor activity|methylated histone residue binding|protein binding, bridging|repressing transcription factor binding				0						Colon(153;588 2459 18334 48613)								0.13089	63.766126	114.399445	50	332	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52921844	52921844	2840	12	C	T	T	30	30	CBX5	T	2	2
CBX5	23468	broad.mit.edu	36	12	52926248	52926248	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52926248G>A	uc001sfh.2	-	c.343C>T	c.(343-345)CGG>TGG	p.R115W	CBX5_uc001sfk.2_Missense_Mutation_p.R115W|CBX5_uc001sfi.2_Missense_Mutation_p.R114W|CBX5_uc001sfj.2_Missense_Mutation_p.R115W	NM_001127322	NP_001120794	P45973	CBX5_HUMAN	heterochromatin protein 1-alpha	115					blood coagulation|chromatin assembly or disassembly|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	general transcriptional repressor activity|methylated histone residue binding|protein binding, bridging|repressing transcription factor binding				0						Colon(153;588 2459 18334 48613)								0.492212	461.216785	461.234156	158	163	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52926248	52926248	2840	12	G	A	A	37	37	CBX5	A	1	1
NFE2	4778	broad.mit.edu	36	12	52975215	52975215	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52975215G>A	uc009znk.1	-	c.85C>T	c.(85-87)CAG>TAG	p.Q29*	NFE2_uc001sfq.1_Nonsense_Mutation_p.Q29*|NFE2_uc001sfr.2_Nonsense_Mutation_p.Q29*|NFE2_uc009znl.1_Nonsense_Mutation_p.Q29*	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor (erythroid-derived 2), 45kDa	29	Transactivation domain.|Required for interaction with MAPK8 (By similarity).				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulator activity|WW domain binding				0														0.202899	51.010104	62.337146	28	110	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	52975215	52975215	10766	12	G	A	A	46	46	NFE2	A	5	2
COPZ1	22818	broad.mit.edu	36	12	53023277	53023277	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53023277T>C	uc009znm.1	+	c.195T>C	c.(193-195)AGT>AGC	p.S65S	COPZ1_uc001sfs.1_Silent_p.S57S|COPZ1_uc001sft.1_Intron	NM_016057	NP_057141	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	57					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol					0														0.169075	243.201403	314.898046	117	575	TT		KEEP	---	---	---	---	capture			Silent	SNP	53023277	53023277	3879	12	T	C	C	59	59	COPZ1	C	4	4
GPR84	53831	broad.mit.edu	36	12	53043415	53043415	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53043415G>A	uc001sfu.1	-	c.488C>T	c.(487-489)CCT>CTT	p.P163L	GPR84_uc009znn.1_Missense_Mutation_p.P163L	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	163	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.246753	48.98948	53.482854	19	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53043415	53043415	6989	12	G	A	A	35	35	GPR84	A	2	2
ITGA5	3678	broad.mit.edu	36	12	53085313	53085313	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53085313G>A	uc001sga.1	-	c.1129C>T	c.(1129-1131)CCC>TCC	p.P377S	ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	377	Extracellular (Potential).|FG-GAP 5.				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(1)	1										322				0.222222	81.349075	94.77643	42	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53085313	53085313	8183	12	G	A	A	42	42	ITGA5	A	2	2
GTSF1	121355	broad.mit.edu	36	12	53140517	53140517	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53140517G>A	uc001sgb.1	-	c.398C>T	c.(397-399)GCG>GTG	p.A133V		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	133							metal ion binding				0		Myeloproliferative disorder(1001;0.00452)												0.205128	48.141815	57.575102	24	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53140517	53140517	7166	12	G	A	A	38	38	GTSF1	A	1	1
NCKAP1L	3071	broad.mit.edu	36	12	53192049	53192049	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53192049G>T	uc001sgc.2	+	c.834G>T	c.(832-834)CAG>CAT	p.Q278H		NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	278					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4														0.441341	208.253972	208.79719	79	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53192049	53192049	10621	12	G	T	T	33	33	NCKAP1L	T	3	3
NCKAP1L	3071	broad.mit.edu	36	12	53211862	53211862	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53211862G>T	uc001sgc.2	+	c.2767G>T	c.(2767-2769)GAG>TAG	p.E923*		NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	923					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4														0.407643	168.649185	169.824486	64	93	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	53211862	53211862	10621	12	G	T	T	33	33	NCKAP1L	T	5	3
KIAA0748	9840	broad.mit.edu	36	12	53643795	53643795	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53643795G>A	uc001sgn.2	-	c.653C>T	c.(652-654)GCC>GTC	p.A218V	KIAA0748_uc001sgl.2_Missense_Mutation_p.A80V|KIAA0748_uc001sgm.2_5'UTR|KIAA0748_uc001sgo.2_Intron	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	218										ovary(1)|central_nervous_system(1)	2														0.387097	69.087288	69.779261	24	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53643795	53643795	8497	12	G	A	A	42	42	KIAA0748	A	2	2
B4GALNT3	283358	broad.mit.edu	36	12	538027	538027	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:538027G>T	uc001qii.1	+	c.2700G>T	c.(2698-2700)AAG>AAT	p.K900N	B4GALNT3_uc001qik.1_Missense_Mutation_p.K449N	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	900	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity				0	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)													0.202532	57.697137	70.700284	32	126	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		Missense_Mutation	SNP	538027	538027	1289	12	G	T	T	33	33	B4GALNT3	T	3	3
OR9K2	441639	broad.mit.edu	36	12	53810005	53810005	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53810005G>T	uc001sgq.1	+	c.186G>T	c.(184-186)ATG>ATT	p.M62I		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	62	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2														0.192719	169.64644	210.857805	90	377	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53810005	53810005	11665	12	G	T	T	45	45	OR9K2	T	3	3
OR6C1	390321	broad.mit.edu	36	12	54001032	54001032	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54001032C>A	uc001sgu.1	+	c.382C>A	c.(382-384)CTG>ATG	p.L128M		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.212766	58.35656	69.12593	30	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54001032	54001032	11600	12	C	A	A	32	32	OR6C1	A	3	3
OR6C3	254786	broad.mit.edu	36	12	54012581	54012581	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54012581C>T	uc001sgv.1	+	c.830C>T	c.(829-831)TCT>TTT	p.S277F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.407407	220.82586	222.244991	77	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54012581	54012581	11602	12	C	T	T	32	32	OR6C3	T	2	2
OR6C65	403282	broad.mit.edu	36	12	54080705	54080705	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54080705C>T	uc001sgx.1	+	c.126C>T	c.(124-126)ATC>ATT	p.I42I		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.424779	133.273013	133.832466	48	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	54080705	54080705	11605	12	C	T	T	29	29	OR6C65	T	2	2
OR6C70	390327	broad.mit.edu	36	12	54150165	54150165	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54150165C>A	uc001sha.1	-	c.25G>T	c.(25-27)GAA>TAA	p.E9*		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.20339	46.625045	56.272778	24	94	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	54150165	54150165	11607	12	C	A	A	32	32	OR6C70	A	5	3
OR6C4	341418	broad.mit.edu	36	12	54231627	54231627	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54231627C>T	uc001shc.1	+	c.350C>T	c.(349-351)TCT>TTT	p.S117F		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.227941	146.197842	164.678383	62	210	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54231627	54231627	11603	12	C	T	T	32	32	OR6C4	T	2	2
DNAJC14	85406	broad.mit.edu	36	12	54440614	54440614	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54440614T>G	uc001shu.1	-	c.2628A>C	c.(2626-2628)ACA>ACC	p.T876T	SARNP_uc009zoa.1_Non-coding_Transcript|SARNP_uc001shs.2_Non-coding_Transcript|SARNP_uc001sht.1_Silent_p.T193T	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(2)|large_intestine(1)	3														0.368217	267.944228	271.88756	95	163	TT		KEEP	---	---	---	---	capture			Silent	SNP	54440614	54440614	4816	12	T	G	G	55	55	DNAJC14	G	4	4
ORMDL2	29095	broad.mit.edu	36	12	54499074	54499074	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54499074C>T	uc001shw.1	+	c.24C>T	c.(22-24)AGC>AGT	p.S8S	SARNP_uc009zoa.1_5'Flank|SARNP_uc001shs.2_5'Flank|SARNP_uc001sht.1_5'Flank|DNAJC14_uc001shu.1_Intron|SARNP_uc001shv.2_5'Flank	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN	ORMDL2	8				S -> N (in Ref. 6; BAD96900).	ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0														0.285714	50.17523	53.315913	22	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	54499074	54499074	11681	12	C	T	T	27	27	ORMDL2	T	1	1
DNAJC14	85406	broad.mit.edu	36	12	54507776	54507776	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54507776C>A	uc001shu.1	-	c.934G>T	c.(934-936)GGG>TGG	p.G312W	DNAJC14_uc001shx.1_Missense_Mutation_p.G312W|DNAJC14_uc009zob.1_Missense_Mutation_p.G312W|DNAJC14_uc001shy.1_Missense_Mutation_p.G312W	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	312	Helical; (Potential).				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(2)|large_intestine(1)	3														0.181818	62.478039	81.320203	36	162	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54507776	54507776	4816	12	C	A	A	22	22	DNAJC14	A	3	3
MMP19	4327	broad.mit.edu	36	12	54517920	54517920	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54517920C>T	uc001sib.1	-	c.1034G>A	c.(1033-1035)CGA>CAA	p.R345Q	MMP19_uc001sia.1_Missense_Mutation_p.R59Q|MMP19_uc001sid.1_Non-coding_Transcript	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	345	Hemopexin-like 2.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1														0.424125	295.677858	296.954786	109	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54517920	54517920	10047	12	C	T	T	31	31	MMP19	T	1	1
CDK2	1017	broad.mit.edu	36	12	54647947	54647947	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54647947C>A	uc001sit.2	+	c.156C>A	c.(154-156)ATC>ATA	p.I52I	SILV_uc001sip.1_5'Flank|SILV_uc001siq.1_5'Flank|SILV_uc001sir.1_5'Flank|SILV_uc001sis.1_5'Flank|CDK2_uc001siu.2_Silent_p.I52I	NM_001798	NP_001789	P24941	CDK2_HUMAN	cyclin-dependent kinase 2 isoform 1	52	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			central_nervous_system(1)	1										94				0.365482	182.724816	185.868351	72	125	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Silent	SNP	54647947	54647947	3265	12	C	A	A	32	32	CDK2	A	3	3
SUOX	6821	broad.mit.edu	36	12	54684243	54684243	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54684243G>A	uc001six.1	+	c.803G>A	c.(802-804)CGA>CAA	p.R268Q	SUOX_uc001siy.1_Missense_Mutation_p.R268Q|SUOX_uc001siz.1_Missense_Mutation_p.R268Q|SUOX_uc001sja.1_Missense_Mutation_p.R268Q	NM_000456	NP_001027559	P51687	SUOX_HUMAN	sulfite oxidase	268	Molybdenum-pterin domain (By similarity).		R -> Q (in ISOD).		oxidation-reduction process	mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0														0.412429	202.447225	203.630606	73	104	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		Missense_Mutation	SNP	54684243	54684243	15915	12	G	A	A	37	37	SUOX	A	1	1
SUOX	6821	broad.mit.edu	36	12	54684410	54684410	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54684410G>T	uc001six.1	+	c.970G>T	c.(970-972)GAC>TAC	p.D324Y	SUOX_uc001siy.1_Missense_Mutation_p.D324Y|SUOX_uc001siz.1_Missense_Mutation_p.D324Y|SUOX_uc001sja.1_Missense_Mutation_p.D324Y	NM_000456	NP_001027559	P51687	SUOX_HUMAN	sulfite oxidase	324	Molybdenum-pterin domain (By similarity).				oxidation-reduction process	mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0														0.474747	122.977696	123.034826	47	52	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		Missense_Mutation	SNP	54684410	54684410	15915	12	G	T	T	33	33	SUOX	T	3	3
IKZF4	64375	broad.mit.edu	36	12	54715020	54715020	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54715020C>T	uc001sjb.1	+	c.1396C>T	c.(1396-1398)CGG>TGG	p.R466W	IKZF4_uc001sjc.1_Missense_Mutation_p.R466W|IKZF4_uc001sjd.1_Missense_Mutation_p.R364W|IKZF4_uc009zoi.1_Missense_Mutation_p.R421W|IKZF4_uc001sje.1_Missense_Mutation_p.R425W	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(1)	1														0.447368	46.771197	46.862518	17	21	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		Missense_Mutation	SNP	54715020	54715020	7918	12	C	T	T	31	31	IKZF4	T	1	1
ERBB3	2065	broad.mit.edu	36	12	54773895	54773895	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54773895C>T	uc001sjh.1	+	c.1561C>T	c.(1561-1563)CGA>TGA	p.R521*	ERBB3_uc009zoj.1_Intron|ERBB3_uc001sjj.1_Nonsense_Mutation_p.R89*|ERBB3_uc009zok.1_5'UTR|ERBB3_uc001sjk.1_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	521	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|protein phosphorylation|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8										322				0.416667	343.707805	345.528961	125	175	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(18;0.112)		Nonsense_Mutation	SNP	54773895	54773895	5401	12	C	T	T	31	31	ERBB3	T	5	1
PA2G4	5036	broad.mit.edu	36	12	54784839	54784839	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54784839C>T	uc001sjm.1	+	c.51C>T	c.(49-51)GTC>GTT	p.V17V	PA2G4_uc009zol.1_Silent_p.V17V|PA2G4_uc009zom.1_Silent_p.V17V	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	17	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0														0.462396	464.780762	465.224478	166	193	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		Silent	SNP	54784839	54784839	11774	12	C	T	T	31	31	PA2G4	T	1	1
ESYT1	23344	broad.mit.edu	36	12	54813713	54813713	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54813713G>A	uc001sjr.1	+	c.1368G>A	c.(1366-1368)GAG>GAA	p.E456E	ESYT1_uc001sjq.1_Silent_p.E456E	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	family with sequence similarity 62 (C2 domain	456						integral to membrane				ovary(4)	4														0.431193	132.4027	132.853607	47	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	54813713	54813713	5457	12	G	A	A	33	33	ESYT1	A	2	2
ESYT1	23344	broad.mit.edu	36	12	54818496	54818496	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54818496G>A	uc001sjr.1	+	c.2409G>A	c.(2407-2409)GCG>GCA	p.A803A	ESYT1_uc001sjq.1_Silent_p.A793A	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	family with sequence similarity 62 (C2 domain	793	C2 4.					integral to membrane				ovary(4)	4														0.217391	23.726141	27.112895	10	36	GG		KEEP	---	---	---	---	capture			Silent	SNP	54818496	54818496	5457	12	G	A	A	39	39	ESYT1	A	1	1
SMARCC2	6601	broad.mit.edu	36	12	54843805	54843805	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54843805G>A	uc001skb.1	-	c.3580C>T	c.(3580-3582)CCC>TCC	p.P1194S	SMARCC2_uc001ska.1_Missense_Mutation_p.P1110S|SMARCC2_uc001skc.1_Missense_Mutation_p.P1131S|SMARCC2_uc001skd.1_Missense_Mutation_p.P1132S	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	1194	Pro-rich.				chromatin assembly or disassembly|chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	chromatin binding|DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6														0.37037	59.186908	59.983899	20	34	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(18;0.123)		Missense_Mutation	SNP	54843805	54843805	15274	12	G	A	A	43	43	SMARCC2	A	2	2
SMARCC2	6601	broad.mit.edu	36	12	54859092	54859092	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54859092T>C	uc001skb.1	-	c.1097A>G	c.(1096-1098)GAC>GGC	p.D366G	SMARCC2_uc001ska.1_Missense_Mutation_p.D366G|SMARCC2_uc001skc.1_Missense_Mutation_p.D366G|SMARCC2_uc001skd.1_Missense_Mutation_p.D366G	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	366					chromatin assembly or disassembly|chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	chromatin binding|DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6														0.209677	97.534649	112.035543	39	147	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(18;0.123)		Missense_Mutation	SNP	54859092	54859092	15274	12	T	C	C	58	58	SMARCC2	C	4	4
RNF41	10193	broad.mit.edu	36	12	54886623	54886623	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54886623C>T	uc001skf.1	-	c.829G>A	c.(829-831)GCC>ACC	p.A277T	RNF41_uc001ske.1_Missense_Mutation_p.A206T|RNF41_uc009zop.1_Non-coding_Transcript|RNF41_uc001skg.1_Missense_Mutation_p.A277T	NM_005785	NP_919339	Q9H4P4	RNF41_HUMAN	ring finger protein 41 isoform 1	277					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1												OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.272727	171.753929	184.071847	72	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54886623	54886623	13973	12	C	T	T	26	26	RNF41	T	2	2
ANKRD52	283373	broad.mit.edu	36	12	54934289	54934289	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54934289G>A	uc001skm.2	-	c.735C>T	c.(733-735)ATC>ATT	p.I245I	ANKRD52_uc001skn.1_Non-coding_Transcript	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	245	ANK 8.						protein binding			ovary(2)	2														0.174468	143.687667	190.67838	82	388	GG		KEEP	---	---	---	---	capture			Silent	SNP	54934289	54934289	686	12	G	A	A	37	37	ANKRD52	A	1	1
ANKRD52	283373	broad.mit.edu	36	12	54934946	54934946	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54934946G>A	uc001skm.2	-	c.520C>T	c.(520-522)CGG>TGG	p.R174W	ANKRD52_uc001skn.1_Non-coding_Transcript	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	174	ANK 6.						protein binding			ovary(2)	2														0.46875	230.842397	231.000398	90	102	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54934946	54934946	686	12	G	A	A	38	38	ANKRD52	A	1	1
CNPY2	10330	broad.mit.edu	36	12	54991299	54991299	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54991299C>T	uc001sku.1	-	c.371G>A	c.(370-372)CGA>CAA	p.R124Q		NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	canopy 2 homolog	124	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding				0														0.277647	285.927953	304.800997	118	307	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54991299	54991299	3766	12	C	T	T	31	31	CNPY2	T	1	1
PAN2	9924	broad.mit.edu	36	12	55004642	55004642	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55004642T>C	uc001skx.2	-	c.1718A>G	c.(1717-1719)GAC>GGC	p.D573G	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.D573G|PAN2_uc001sky.2_Missense_Mutation_p.D573G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	573					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|large_intestine(1)|skin(1)	4														0.437811	290.574722	291.251045	88	113	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55004642	55004642	11831	12	T	C	C	58	58	PAN2	C	4	4
PAN2	9924	broad.mit.edu	36	12	55006961	55006961	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55006961G>A	uc001skx.2	-	c.969C>T	c.(967-969)ATC>ATT	p.I323I	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.I323I|PAN2_uc001sky.2_Silent_p.I323I	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	323					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|large_intestine(1)|skin(1)	4														0.23741	151.40248	168.92724	66	212	GG		KEEP	---	---	---	---	capture			Silent	SNP	55006961	55006961	11831	12	G	A	A	33	33	PAN2	A	2	2
STAT2	6773	broad.mit.edu	36	12	55030192	55030192	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55030192C>T	uc001slc.1	-	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K	STAT2_uc001slb.1_5'Flank|STAT2_uc001sld.1_Missense_Mutation_p.E385K	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	389					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3														0.463768	366.064095	366.379996	128	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55030192	55030192	15785	12	C	T	T	31	31	STAT2	T	1	1
STAT2	6773	broad.mit.edu	36	12	55034829	55034829	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55034829C>A	uc001slc.1	-	c.633G>T	c.(631-633)AAG>AAT	p.K211N	STAT2_uc001sld.1_Missense_Mutation_p.K207N	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	211					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3														0.438596	828.547826	830.803443	300	384	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55034829	55034829	15785	12	C	A	A	24	24	STAT2	A	3	3
TIMELESS	8914	broad.mit.edu	36	12	55108322	55108322	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55108322G>A	uc001slf.1	-	c.1543C>T	c.(1543-1545)CGA>TGA	p.R515*	TIMELESS_uc001slg.1_Nonsense_Mutation_p.R514*	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	515					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8														0.184397	46.073716	59.247829	26	115	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55108322	55108322	16433	12	G	A	A	38	38	TIMELESS	A	5	1
MIP	4284	broad.mit.edu	36	12	55134444	55134444	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55134444G>T	uc001slh.1	-	c.221C>A	c.(220-222)GCT>GAT	p.A74D		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	74					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens				0														0.475177	185.589709	185.666683	67	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55134444	55134444	9981	12	G	T	T	34	34	MIP	T	3	3
BAZ2A	11176	broad.mit.edu	36	12	55280086	55280086	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55280086C>T	uc001slq.1	-	c.4960G>A	c.(4960-4962)GCA>ACA	p.A1654T	BAZ2A_uc001slo.1_Missense_Mutation_p.A460T|BAZ2A_uc009zov.1_Missense_Mutation_p.A620T|BAZ2A_uc009zow.1_Missense_Mutation_p.A1622T|BAZ2A_uc001slp.1_Missense_Mutation_p.A1652T	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1654					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|transcription regulator activity|zinc ion binding				0														0.241206	98.103123	110.267388	48	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55280086	55280086	1352	12	C	T	T	27	27	BAZ2A	T	1	1
BAZ2A	11176	broad.mit.edu	36	12	55281775	55281775	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55281775G>T	uc001slq.1	-	c.3899C>A	c.(3898-3900)GCT>GAT	p.A1300D	BAZ2A_uc001slo.1_Missense_Mutation_p.A128D|BAZ2A_uc009zov.1_Missense_Mutation_p.A270D|BAZ2A_uc009zow.1_Missense_Mutation_p.A1268D|BAZ2A_uc001slp.1_Missense_Mutation_p.A1298D	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1300	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|transcription regulator activity|zinc ion binding				0														0.163594	119.827989	166.518172	71	363	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55281775	55281775	1352	12	G	T	T	34	34	BAZ2A	T	3	3
BAZ2A	11176	broad.mit.edu	36	12	55285168	55285168	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55285168G>A	uc001slq.1	-	c.2710C>T	c.(2710-2712)CTG>TTG	p.L904L	BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Silent_p.L872L|BAZ2A_uc001slp.1_Silent_p.L902L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	904	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|transcription regulator activity|zinc ion binding				0														0.172727	34.366604	45.490879	19	91	GG		KEEP	---	---	---	---	capture			Silent	SNP	55285168	55285168	1352	12	G	A	A	34	34	BAZ2A	A	2	2
BAZ2A	11176	broad.mit.edu	36	12	55293285	55293285	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55293285C>T	uc001slq.1	-	c.923_splice	c.e5-1	p.E308_splice	BAZ2A_uc009zow.1_Splice_Site_SNP_p.E276_splice|BAZ2A_uc001slp.1_Splice_Site_SNP_p.E306_splice	NM_013449	NP_038477			bromodomain adjacent to zinc finger domain, 2A						chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|transcription regulator activity|zinc ion binding				0														0.21865	160.723338	183.416318	68	243	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	55293285	55293285	1352	12	C	T	T	32	32	BAZ2A	T	5	2
NACA	4666	broad.mit.edu	36	12	55397409	55397409	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55397409C>A	uc009zoy.1	-	c.4172G>T	c.(4171-4173)AGA>ATA	p.R1391I	NACA_uc001slz.2_Intron|NACA_uc001sly.2_Intron|NACA_uc001smc.2_Intron|NACA_uc001sma.2_Intron|NACA_uc001smb.2_Intron	NM_001113203	NP_001106674	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	Error:Variant_position_missing_in_Q13765_after_alignment					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1										449				0.510204	67.966778	67.971012	25	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55397409	55397409	10528	12	C	A	A	32	32	NACA	A	3	3
ANO2	57101	broad.mit.edu	36	12	5542924	5542924	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5542924C>A	uc001qnm.1	-	c.2802G>T	c.(2800-2802)CAG>CAT	p.Q934H		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	938	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.253968	68.82827	75.76101	32	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5542924	5542924	705	12	C	A	A	32	32	ANO2	A	3	3
ANO2	57101	broad.mit.edu	36	12	5542992	5542992	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5542992G>T	uc001qnm.1	-	c.2734C>A	c.(2734-2736)CTC>ATC	p.L912I		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	916	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.187845	61.522758	78.061974	34	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5542992	5542992	705	12	G	T	T	35	35	ANO2	T	3	3
RDH16	8608	broad.mit.edu	36	12	55637278	55637278	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55637278G>A	uc001smi.2	-	c.236C>T	c.(235-237)ACG>ATG	p.T79M	RDH16_uc009zpa.1_Silent_p.D20D	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	79	Cytoplasmic (Potential).				lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						GBM(179;741 2921 43105 45298)								0.246667	74.287069	83.075299	37	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55637278	55637278	13663	12	G	A	A	40	40	RDH16	A	1	1
GPR182	11318	broad.mit.edu	36	12	55675426	55675426	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55675426C>A	uc001smk.1	+	c.166C>A	c.(166-168)CTC>ATC	p.L56I	GPR182_uc009zpb.1_Missense_Mutation_p.L56I	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	56	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.222527	166.778848	192.566362	81	283	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55675426	55675426	6952	12	C	A	A	24	24	GPR182	A	3	3
GPR182	11318	broad.mit.edu	36	12	55675773	55675773	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55675773G>T	uc001smk.1	+	c.513G>T	c.(511-513)CGG>CGT	p.R171R	GPR182_uc009zpb.1_Silent_p.R171R	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.187166	60.900077	78.062509	35	152	GG		KEEP	---	---	---	---	capture			Silent	SNP	55675773	55675773	6952	12	G	T	T	43	43	GPR182	T	3	3
TAC3	6866	broad.mit.edu	36	12	55692688	55692688	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55692688C>T	uc001smn.1	-	c.393G>A	c.(391-393)GAG>GAA	p.E131E	TAC3_uc001smm.1_Intron|TAC3_uc001smo.1_Intron|TAC3_uc001smp.1_Intron|TAC3_uc001smq.1_Non-coding_Transcript|TAC3_uc001smr.1_Intron|TAC3_uc001sms.1_Non-coding_Transcript|TAC3_uc001smt.1_Intron|TAC3_uc001smu.1_Intron|TAC3_uc001smv.1_Intron	NM_001006667	NP_001006668	Q9UHF0	TKNK_HUMAN	Tachykinin-3 precursor (ZNEUROK1) [Contains: Neurokinin-B (NKB) (Neuromedin-K)].	Error:Variant_position_missing_in_Q9UHF0_after_alignment					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			ovary(1)	1														0.126984	16.600238	33.726979	16	110	CC		KEEP	---	---	---	---	capture			Silent	SNP	55692688	55692688	16020	12	C	T	T	28	28	TAC3	T	2	2
MYO1A	4640	broad.mit.edu	36	12	55709268	55709268	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55709268C>T	uc001smw.2	-	c.2920G>A	c.(2920-2922)GAG>AAG	p.E974K	MYO1A_uc009zpd.1_Missense_Mutation_p.E974K	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	974					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|urinary_tract(1)|skin(1)	4														0.218623	110.922337	128.947838	54	193	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55709268	55709268	10463	12	C	T	T	31	31	MYO1A	T	1	1
NAB2	4665	broad.mit.edu	36	12	55772019	55772019	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55772019C>T	uc001smz.1	+	c.928C>T	c.(928-930)CGG>TGG	p.R310W		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	310	NCD2.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription corepressor activity|transcription repressor activity			ovary(1)	1														0.442953	175.230757	175.651665	66	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55772019	55772019	10527	12	C	T	T	27	27	NAB2	T	1	1
STAT6	6778	broad.mit.edu	36	12	55778854	55778854	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55778854C>T	uc009zpg.1	-	c.2201G>A	c.(2200-2202)GGC>GAC	p.G734D	STAT6_uc009zpe.1_Missense_Mutation_p.G685D|STAT6_uc009zpf.1_Missense_Mutation_p.G685D|STAT6_uc001sna.1_Missense_Mutation_p.G685D	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	685					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)	3										241				0.398693	162.201325	163.555443	61	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55778854	55778854	15790	12	C	T	T	26	26	STAT6	T	2	2
STAT6	6778	broad.mit.edu	36	12	55782365	55782365	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55782365G>T	uc009zpg.1	-	c.1634C>A	c.(1633-1635)TCT>TAT	p.S545Y	STAT6_uc009zpe.1_Missense_Mutation_p.S496Y|STAT6_uc009zpf.1_Missense_Mutation_p.S496Y|STAT6_uc001sna.1_Missense_Mutation_p.S496Y	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	496					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)	3										241				0.438486	368.806982	369.863285	139	178	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55782365	55782365	15790	12	G	T	T	33	33	STAT6	T	3	3
STAT6	6778	broad.mit.edu	36	12	55785562	55785562	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55785562C>T	uc009zpg.1	-	c.915G>A	c.(913-915)TCG>TCA	p.S305S	STAT6_uc009zpe.1_Silent_p.S256S|STAT6_uc009zpf.1_Silent_p.S256S|STAT6_uc001sna.1_Silent_p.S256S	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	256					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)	3										241				0.163043	22.965345	32.897992	15	77	CC		KEEP	---	---	---	---	capture			Silent	SNP	55785562	55785562	15790	12	C	T	T	27	27	STAT6	T	1	1
ANO2	57101	broad.mit.edu	36	12	5578988	5578988	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5578988G>A	uc001qnm.1	-	c.2159C>T	c.(2158-2160)TCG>TTG	p.S720L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	724	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.481959	537.773369	537.884575	187	201	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5578988	5578988	705	12	G	A	A	37	37	ANO2	A	1	1
LRP1	4035	broad.mit.edu	36	12	55857619	55857619	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55857619C>T	uc001snd.1	+	c.4339C>T	c.(4339-4341)CGC>TGC	p.R1447C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1447	Extracellular (Potential).|LDL-receptor class B 11.				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.256881	61.255872	67.096939	28	81	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Missense_Mutation	SNP	55857619	55857619	9324	12	C	T	T	27	27	LRP1	T	1	1
LRP1	4035	broad.mit.edu	36	12	55871466	55871466	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55871466G>A	uc001snd.1	+	c.7333G>A	c.(7333-7335)GCC>ACC	p.A2445T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2445	Extracellular (Potential).|LDL-receptor class B 25.				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.436782	94.186643	94.496323	38	49	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Missense_Mutation	SNP	55871466	55871466	9324	12	G	A	A	42	42	LRP1	A	2	2
LRP1	4035	broad.mit.edu	36	12	55875349	55875349	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55875349C>A	uc001snd.1	+	c.8337C>A	c.(8335-8337)TTC>TTA	p.F2779L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2779	LDL-receptor class A 17.|Extracellular (Potential).				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.220779	162.156665	189.815214	85	300	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Missense_Mutation	SNP	55875349	55875349	9324	12	C	A	A	32	32	LRP1	A	3	3
NXPH4	11247	broad.mit.edu	36	12	55905775	55905775	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55905775G>A	uc001sne.1	+	c.905G>A	c.(904-906)AGT>AAT	p.S302N	NXPH4_uc009zpj.1_Missense_Mutation_p.V66M	NM_007224	NP_009155	O95158	NXPH4_HUMAN	neurexophilin 4	302	V (Cys-rich).				neuropeptide signaling pathway	extracellular region					0														0.171053	49.751664	65.307908	26	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55905775	55905775	11198	12	G	A	A	36	36	NXPH4	A	2	2
SHMT2	6472	broad.mit.edu	36	12	55914071	55914071	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55914071C>A	uc001snf.1	+	c.1298C>A	c.(1297-1299)TCT>TAT	p.S433Y	SHMT2_uc001sng.1_Missense_Mutation_p.S329Y|SHMT2_uc001snh.1_Missense_Mutation_p.S272Y|SHMT2_uc009zpk.1_Missense_Mutation_p.S423Y|SHMT2_uc001sni.1_Missense_Mutation_p.S412Y|SHMT2_uc001snj.1_Missense_Mutation_p.S337Y|SHMT2_uc001snk.1_Missense_Mutation_p.S337Y|SHMT2_uc001snl.1_Missense_Mutation_p.S337Y	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	433						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	Esophageal Squamous(150;1369 2416 49071 49364)								0.189055	66.017403	84.219469	38	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55914071	55914071	14781	12	C	A	A	32	32	SHMT2	A	3	3
NDUFA4L2	56901	broad.mit.edu	36	12	55915656	55915656	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55915656G>A	uc001sno.1	-	c.221C>T	c.(220-222)TCC>TTC	p.S74F	NDUFA4L2_uc001snm.1_Missense_Mutation_p.S109F	NM_020142	NP_064527	Q9NRX3	NUA4L_HUMAN	NADH:ubiquinone oxidoreductase MLRQ subunit	74											0					NADH(DB00157)									0.405	223.925588	225.50546	81	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55915656	55915656	10666	12	G	A	A	41	41	NDUFA4L2	A	2	2
R3HDM2	22864	broad.mit.edu	36	12	55938950	55938950	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55938950C>A	uc001snt.2	-	c.2291G>T	c.(2290-2292)AGC>ATC	p.S764I	R3HDM2_uc001snr.2_Missense_Mutation_p.S411I|R3HDM2_uc009zpm.1_Missense_Mutation_p.S750I|R3HDM2_uc001sns.2_Missense_Mutation_p.S750I|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	750						nucleus	nucleic acid binding			ovary(1)	1														0.408163	270.533869	272.34253	100	145	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55938950	55938950	13347	12	C	A	A	28	28	R3HDM2	A	3	3
ANO2	57101	broad.mit.edu	36	12	5594629	5594629	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5594629C>T	uc001qnm.1	-	c.1915G>A	c.(1915-1917)GCC>ACC	p.A639T		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	643	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.386364	45.375674	45.869434	17	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5594629	5594629	705	12	C	T	T	26	26	ANO2	T	2	2
MARS	4141	broad.mit.edu	36	12	56180516	56180516	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56180516G>A	uc001sog.1	+	c.1237G>A	c.(1237-1239)GCT>ACT	p.A413T	MARS_uc001sof.1_Non-coding_Transcript	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	413					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Methionine(DB00134)					9				0.41958	157.068181	157.875928	60	83	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;4.27e-41)		Missense_Mutation	SNP	56180516	56180516	9699	12	G	A	A	42	42	MARS	A	2	2
DCTN2	10540	broad.mit.edu	36	12	56215165	56215165	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56215165T>C	uc009zpu.1	-	c.319A>G	c.(319-321)AAG>GAG	p.K107E	DCTN2_uc009zpv.1_Missense_Mutation_p.K15E|DCTN2_uc009zpw.1_Missense_Mutation_p.K15E|DCTN2_uc001som.1_Missense_Mutation_p.K102E|DCTN2_uc001soo.1_Non-coding_Transcript|DCTN2_uc001son.1_Missense_Mutation_p.K15E|DCTN2_uc001sop.1_Missense_Mutation_p.K15E|DCTN2_uc001soq.1_Non-coding_Transcript|DCTN2_uc009zpx.1_Missense_Mutation_p.K102E	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	dynactin 2	102	Potential.				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule	motor activity|protein binding			ovary(1)	1														0.165289	46.630218	59.487619	20	101	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56215165	56215165	4478	12	T	C	C	64	64	DCTN2	C	4	4
KIF5A	3798	broad.mit.edu	36	12	56244543	56244543	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56244543C>T	uc001sor.1	+	c.430C>T	c.(430-432)CGT>TGT	p.R144C		NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	144	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)	2														0.169492	103.454575	140.002599	60	294	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56244543	56244543	8616	12	C	T	T	31	31	KIF5A	T	1	1
KIF5A	3798	broad.mit.edu	36	12	56249693	56249693	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56249693G>A	uc001sor.1	+	c.1077G>A	c.(1075-1077)ACG>ACA	p.T359T		NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	359					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)	2														0.423077	179.095073	179.905693	66	90	GG		KEEP	---	---	---	---	capture			Silent	SNP	56249693	56249693	8616	12	G	A	A	37	37	KIF5A	A	1	1
KIF5A	3798	broad.mit.edu	36	12	56256401	56256401	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56256401A>C	uc001sor.1	+	c.2171A>C	c.(2170-2172)AAG>ACG	p.K724T		NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	724					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)	2														0.235294	25.368024	28.643093	12	39	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56256401	56256401	8616	12	A	C	C	3	3	KIF5A	C	4	4
KIF5A	3798	broad.mit.edu	36	12	56261142	56261142	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56261142G>A	uc001sor.1	+	c.2675G>A	c.(2674-2676)CGG>CAG	p.R892Q		NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	892					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)	2														0.435484	78.115442	78.340304	27	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56261142	56261142	8616	12	G	A	A	39	39	KIF5A	A	1	1
SLC26A10	65012	broad.mit.edu	36	12	56301879	56301879	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56301879G>A	uc001spe.1	+	c.695G>A	c.(694-696)GGG>GAG	p.G232E	SLC26A10_uc001spf.2_Non-coding_Transcript|SLC26A10_uc009zpz.1_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	232						integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.306122	41.808394	43.449969	15	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56301879	56301879	15012	12	G	A	A	43	43	SLC26A10	A	2	2
SLC26A10	65012	broad.mit.edu	36	12	56305175	56305175	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56305175G>T	uc001spe.1	+	c.1347G>T	c.(1345-1347)GAG>GAT	p.E449D	SLC26A10_uc001spf.2_Non-coding_Transcript|SLC26A10_uc009zpz.1_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	449	STAS.					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)													0.208029	215.499962	258.823566	114	434	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56305175	56305175	15012	12	G	T	T	33	33	SLC26A10	T	3	3
B4GALNT1	2583	broad.mit.edu	36	12	56308230	56308230	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56308230G>A	uc001spg.1	-	c.1085C>T	c.(1084-1086)ACG>ATG	p.T362M		NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	362	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)													0.253731	111.453316	122.508325	51	150	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.109)		Missense_Mutation	SNP	56308230	56308230	1287	12	G	A	A	40	40	B4GALNT1	A	1	1
B4GALNT1	2583	broad.mit.edu	36	12	56310223	56310223	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56310223G>T	uc001spg.1	-	c.691C>A	c.(691-693)CAG>AAG	p.Q231K	B4GALNT1_uc001sph.1_Missense_Mutation_p.Q231K|B4GALNT1_uc001spi.1_Missense_Mutation_p.Q231K	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	231	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)													0.26	89.147117	96.979103	39	111	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.109)		Missense_Mutation	SNP	56310223	56310223	1287	12	G	T	T	47	47	B4GALNT1	T	3	3
CYP27B1	1594	broad.mit.edu	36	12	56444552	56444552	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56444552C>T	uc001spz.1	-	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	CYP27B1_uc001sqa.1_Missense_Mutation_p.E103K|CYP27B1_uc001sqb.1_3'UTR|CYP27B1_uc001sqc.1_3'UTR	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	338					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|oxidation-reduction process|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)				Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)				p.E338K(HT115-Tumor)	101				0.415677	480.41986	483.037217	175	246	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Missense_Mutation	SNP	56444552	56444552	4324	12	C	T	T	31	31	CYP27B1	T	1	1
AVIL	10677	broad.mit.edu	36	12	56483375	56483375	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56483375G>A	uc001sqj.1	-	c.1884C>T	c.(1882-1884)TTC>TTT	p.F628F	AVIL_uc009zqe.1_Silent_p.F621F|AVIL_uc001sqk.1_Silent_p.F206F	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	628	Gelsolin-like 6.|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)											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.448441	525.944841	526.913346	187	230	GG		KEEP	---	---	---	---	capture			Silent	SNP	56483375	56483375	1248	12	G	A	A	37	37	AVIL	A	1	1
XRCC6BP1	91419	broad.mit.edu	36	12	56631868	56631868	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56631868G>A	uc001sqp.1	+	c.376G>A	c.(376-378)GAG>AAG	p.E126K		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	126		By similarity.			double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			ovary(1)	1														0.239741	248.114804	276.742888	111	352	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56631868	56631868	18041	12	G	A	A	37	37	XRCC6BP1	A	1	1
XRCC6BP1	91419	broad.mit.edu	36	12	56631936	56631936	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56631936G>A	uc001sqp.1	+	c.444G>A	c.(442-444)GCG>GCA	p.A148A		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	148					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			ovary(1)	1														0.445946	542.748122	543.883142	198	246	GG		KEEP	---	---	---	---	capture			Silent	SNP	56631936	56631936	18041	12	G	A	A	40	40	XRCC6BP1	A	1	1
LRIG3	121227	broad.mit.edu	36	12	57557490	57557490	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:57557490T>C	uc001sqr.1	-	c.2495A>G	c.(2494-2496)CAC>CGC	p.H832R	LRIG3_uc009zqh.1_Missense_Mutation_p.H772R	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	832						integral to membrane				ovary(1)|skin(1)	2														0.442857	190.13179	190.529277	62	78	TT		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;1.17e-18)		Missense_Mutation	SNP	57557490	57557490	9319	12	T	C	C	59	59	LRIG3	C	4	4
SLC16A7	9194	broad.mit.edu	36	12	58455216	58455216	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:58455216C>T	uc001sqs.1	+	c.873C>T	c.(871-873)TTC>TTT	p.F291F	SLC16A7_uc001sqt.1_Silent_p.F291F|SLC16A7_uc001squ.1_Silent_p.F291F|SLC16A7_uc009zqi.1_Silent_p.F192F	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	291	Helical; (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1					Pyruvic acid(DB00119)									0.396624	257.203707	259.417782	94	143	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(3;0.0303)	Silent	SNP	58455216	58455216	14909	12	C	T	T	31	31	SLC16A7	T	1	1
SLC16A7	9194	broad.mit.edu	36	12	58459517	58459517	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:58459517C>T	uc001sqs.1	+	c.1227C>T	c.(1225-1227)TCC>TCT	p.S409S	SLC16A7_uc001sqt.1_Silent_p.S409S|SLC16A7_uc001squ.1_Silent_p.S409S|SLC16A7_uc009zqi.1_Silent_p.S310S	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	409	Helical; (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1					Pyruvic acid(DB00119)									0.408696	146.304816	147.142102	47	68	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(3;0.0303)	Silent	SNP	58459517	58459517	14909	12	C	T	T	24	24	SLC16A7	T	2	2
ANO2	57101	broad.mit.edu	36	12	5900641	5900641	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5900641G>A	uc001qnm.1	-	c.348C>T	c.(346-348)GGC>GGT	p.G116G		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	120	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.147059	13.105291	21.246814	10	58	GG		KEEP	---	---	---	---	capture			Silent	SNP	5900641	5900641	705	12	G	A	A	42	42	ANO2	A	2	2
VWF	7450	broad.mit.edu	36	12	6043793	6043793	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6043793C>T	uc001qnn.1	-	c.1312G>A	c.(1312-1314)GCT>ACT	p.A438T		NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	438	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.166667	20.743544	28.949737	13	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6043793	6043793	17818	12	C	T	T	27	27	VWF	T	1	1
USP15	9958	broad.mit.edu	36	12	61069929	61069929	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:61069929T>G	uc001src.1	+	c.1738T>G	c.(1738-1740)TAT>GAT	p.Y580D	USP15_uc001srb.1_Missense_Mutation_p.Y551D	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	580					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2						Melanoma(181;615 2041 39364 49691 50001)								0.20122	82.412099	95.995853	33	131	TT		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	Missense_Mutation	SNP	61069929	61069929	17608	12	T	G	G	61	61	USP15	G	4	4
USP15	9958	broad.mit.edu	36	12	61070965	61070965	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:61070965C>T	uc001src.1	+	c.1899C>T	c.(1897-1899)TGC>TGT	p.C633C	USP15_uc001srb.1_Silent_p.C604C	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	633					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2						Melanoma(181;615 2041 39364 49691 50001)								0.192308	53.393183	64.892588	25	105	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	Silent	SNP	61070965	61070965	17608	12	C	T	T	28	28	USP15	T	2	2
MON2	23041	broad.mit.edu	36	12	61229842	61229842	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:61229842G>T	uc001sre.1	+	c.2881G>T	c.(2881-2883)GAA>TAA	p.E961*	MON2_uc009zqj.1_Nonsense_Mutation_p.E961*|MON2_uc001srf.1_Nonsense_Mutation_p.E724*	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	962					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2														0.19209	60.031549	75.724709	34	143	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	Nonsense_Mutation	SNP	61229842	61229842	10091	12	G	T	T	33	33	MON2	T	5	3
PPM1H	57460	broad.mit.edu	36	12	61512281	61512281	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:61512281G>T	uc001srk.2	-	c.291C>A	c.(289-291)AGC>AGA	p.S97R		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	97							phosphoprotein phosphatase activity			ovary(1)	1														0.444444	92.288284	92.482153	32	40	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	Missense_Mutation	SNP	61512281	61512281	12776	12	G	T	T	34	34	PPM1H	T	3	3
CD9	928	broad.mit.edu	36	12	6212070	6212070	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6212070C>A	uc001qnp.1	+	c.187C>A	c.(187-189)CTG>ATG	p.L63M	CD9_uc001qnq.1_Missense_Mutation_p.L63M	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	63	Helical; (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1														0.692308	26.377376	26.805131	9	4	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6212070	6212070	3174	12	C	A	A	32	32	CD9	A	3	3
TNFRSF1A	7132	broad.mit.edu	36	12	6308971	6308971	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6308971C>T	uc001qnu.1	-	c.1136G>A	c.(1135-1137)GGG>GAG	p.G379E	TNFRSF1A_uc001qnt.1_Missense_Mutation_p.G271E|TNFRSF1A_uc009zek.1_Missense_Mutation_p.G336E	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	379	Death.|Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			skin(1)	1										109				0.238095	23.828356	26.460537	10	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6308971	6308971	16834	12	C	T	T	22	22	TNFRSF1A	T	2	2
XPOT	11260	broad.mit.edu	36	12	63103086	63103086	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:63103086T>C	uc001ssb.1	+	c.1115T>C	c.(1114-1116)GTA>GCA	p.V372A		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	372	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2														0.304636	144.822955	149.947659	46	105	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(28;0.0404)	Missense_Mutation	SNP	63103086	63103086	18033	12	T	C	C	57	57	XPOT	C	4	4
XPOT	11260	broad.mit.edu	36	12	63114577	63114577	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:63114577T>C	uc001ssb.1	+	c.2476T>C	c.(2476-2478)TTG>CTG	p.L826L		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	826	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2														0.396825	252.100225	253.85614	75	114	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(28;0.0404)	Silent	SNP	63114577	63114577	18033	12	T	C	C	60	60	XPOT	C	4	4
XPOT	11260	broad.mit.edu	36	12	63115720	63115720	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:63115720G>A	uc001ssb.1	+	c.2732G>A	c.(2731-2733)CGG>CAG	p.R911Q		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	911	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2														0.336538	101.992604	104.450952	35	69	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(28;0.0404)	Missense_Mutation	SNP	63115720	63115720	18033	12	G	A	A	39	39	XPOT	A	1	1
TBK1	29110	broad.mit.edu	36	12	63178021	63178021	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:63178021G>T	uc001ssc.1	+	c.2073G>T	c.(2071-2073)AAG>AAT	p.K691N		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	691	Potential.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|protein phosphorylation|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5										569				0.344538	103.626443	106.17224	41	78	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(28;0.0386)	Missense_Mutation	SNP	63178021	63178021	16163	12	G	T	T	33	33	TBK1	T	3	3
SCNN1A	6337	broad.mit.edu	36	12	6333914	6333914	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6333914C>T	uc001qnw.1	-	c.1488G>A	c.(1486-1488)CCG>CCA	p.P496P	SCNN1A_uc001qnv.1_Silent_p.P137P|SCNN1A_uc001qnx.1_Silent_p.P437P	NM_001038	NP_001029	P37088	SCNNA_HUMAN	sodium channel, nonvoltage-gated 1 alpha	437	Extracellular (By similarity).				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding				0					Amiloride(DB00594)|Triamterene(DB00384)									0.251852	74.826351	82.352626	34	101	CC		KEEP	---	---	---	---	capture			Silent	SNP	6333914	6333914	14409	12	C	T	T	27	27	SCNN1A	T	1	1
SCNN1A	6337	broad.mit.edu	36	12	6334252	6334252	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6334252G>A	uc001qnw.1	-	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	SCNN1A_uc001qnv.1_Silent_p.G89G|SCNN1A_uc001qnx.1_Silent_p.G389G	NM_001038	NP_001029	P37088	SCNNA_HUMAN	sodium channel, nonvoltage-gated 1 alpha	389	Extracellular (By similarity).				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding				0					Amiloride(DB00594)|Triamterene(DB00384)									0.404255	189.038971	190.548086	76	112	GG		KEEP	---	---	---	---	capture			Silent	SNP	6334252	6334252	14409	12	G	A	A	38	38	SCNN1A	A	1	1
RASSF3	283349	broad.mit.edu	36	12	63374854	63374854	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:63374854C>A	uc001ssd.1	+	c.612C>A	c.(610-612)ATC>ATA	p.I204I	RASSF3_uc009zqn.1_Non-coding_Transcript|RASSF3_uc001sse.1_Silent_p.I134I	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family	204	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding				0														0.48954	318.96949	318.994496	117	122	CC		KEEP	---	---	---	---	capture	Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)	Silent	SNP	63374854	63374854	13548	12	C	A	A	32	32	RASSF3	A	3	3
WIF1	11197	broad.mit.edu	36	12	63735167	63735167	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:63735167T>G	uc001ssk.1	-	c.1016A>C	c.(1015-1017)AAA>ACA	p.K339T		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	339					multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)	3						Esophageal Squamous(148;1595 1816 48559 49439 49664)				284				0.232432	121.38652	133.474014	43	142	TT		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	Missense_Mutation	SNP	63735167	63735167	17940	12	T	G	G	64	64	WIF1	G	4	4
LEMD3	23592	broad.mit.edu	36	12	63849783	63849783	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:63849783G>A	uc001ssl.1	+	c.140G>A	c.(139-141)CGA>CAA	p.R47Q	LEMD3_uc009zqo.1_Missense_Mutation_p.R47Q	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	47	LEM.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4														0.277778	11.768535	12.567678	5	13	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	Missense_Mutation	SNP	63849783	63849783	9045	12	G	A	A	37	37	LEMD3	A	1	1
TAPBPL	55080	broad.mit.edu	36	12	6433134	6433134	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6433134C>T	uc001qog.2	+	c.556C>T	c.(556-558)CGA>TGA	p.R186*	LOC678655_uc001qob.2_5'Flank|LOC678655_uc001qoc.2_5'Flank|LOC678655_uc009zel.1_5'Flank|LOC678655_uc009zem.1_5'Flank|LOC678655_uc001qof.2_5'Flank|TAPBPL_uc001qoh.2_Nonsense_Mutation_p.R44*|TAPBPL_uc001qoi.1_Non-coding_Transcript	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	186	Lumenal (Potential).|Ig-like V-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane					0														0.370968	59.827696	60.726796	23	39	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	6433134	6433134	16074	12	C	T	T	27	27	TAPBPL	T	5	1
TAPBPL	55080	broad.mit.edu	36	12	6438103	6438103	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6438103C>T	uc001qog.2	+	c.936C>T	c.(934-936)AAC>AAT	p.N312N	TAPBPL_uc001qoh.2_Silent_p.N170N|TAPBPL_uc001qoi.1_Non-coding_Transcript	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	312	Lumenal (Potential).|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane					0														0.142857	39.400015	65.230418	30	180	CC		KEEP	---	---	---	---	capture			Silent	SNP	6438103	6438103	16074	12	C	T	T	19	19	TAPBPL	T	1	1
HMGA2	8091	broad.mit.edu	36	12	64594941	64594941	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:64594941C>T	uc001ssu.1	+	c.424C>T	c.(424-426)CGA>TGA	p.R142*	HMGA2_uc001ssw.1_Intron|HMGA2_uc001ssx.1_Intron|HMGA2_uc001ssv.1_Intron	NM_003483	NP_003474	P52926	HMGA2_HUMAN	high mobility group AT-hook 2 isoform a	Error:Variant_position_missing_in_P52926_after_alignment					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(12)|HMGA2/RAD51L1(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2)	soft_tissue(159)|bone(27)|salivary_gland(20)	206	all_cancers(1;5.78e-46)									109				0.209302	16.03827	19.420258	9	34	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)	Nonsense_Mutation	SNP	64594941	64594941	7515	12	C	T	T	31	31	HMGA2	T	5	1
NCAPD2	9918	broad.mit.edu	36	12	6494257	6494257	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6494257C>T	uc001qoo.2	+	c.897C>T	c.(895-897)GGC>GGT	p.G299G	NCAPD2_uc009zen.1_Silent_p.G171G	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	299	Interactions with SMC2 and SMC4.				cell division|intracellular protein transport|mitotic chromosome condensation|vesicle-mediated transport	condensin core heterodimer|membrane coat	histone binding			ovary(2)|kidney(1)	3														0.448718	315.641984	316.178447	105	129	CC		KEEP	---	---	---	---	capture			Silent	SNP	6494257	6494257	10604	12	C	T	T	28	28	NCAPD2	T	2	2
HELB	92797	broad.mit.edu	36	12	64982661	64982661	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:64982661C>T	uc001sti.2	+	c.11C>T	c.(10-12)TCG>TTG	p.S4L	HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	4					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2														0.358108	137.465575	140.075547	53	95	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	Missense_Mutation	SNP	64982661	64982661	7328	12	C	T	T	31	31	HELB	T	1	1
HELB	92797	broad.mit.edu	36	12	64989881	64989881	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:64989881G>A	uc001sti.2	+	c.906G>A	c.(904-906)AAG>AAA	p.K302K	HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	302					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2														0.198895	152.171787	182.73658	72	290	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	Silent	SNP	64989881	64989881	7328	12	G	A	A	34	34	HELB	A	2	2
HELB	92797	broad.mit.edu	36	12	64995361	64995361	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:64995361G>T	uc001sti.2	+	c.1931G>T	c.(1930-1932)AGA>ATA	p.R644I	HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	644					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2														0.480687	310.561482	310.638261	112	121	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	Missense_Mutation	SNP	64995361	64995361	7328	12	G	T	T	33	33	HELB	T	3	3
NCAPD2	9918	broad.mit.edu	36	12	6502339	6502339	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6502339C>A	uc001qoo.2	+	c.2039C>A	c.(2038-2040)CCT>CAT	p.P680H	NCAPD2_uc009zen.1_Missense_Mutation_p.P552H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	680					cell division|intracellular protein transport|mitotic chromosome condensation|vesicle-mediated transport	condensin core heterodimer|membrane coat	histone binding			ovary(2)|kidney(1)	3														0.426778	270.887242	272.008207	102	137	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6502339	6502339	10604	12	C	A	A	24	24	NCAPD2	A	3	3
GRIP1	23426	broad.mit.edu	36	12	65057251	65057251	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:65057251G>A	uc001stk.1	-	c.2547C>T	c.(2545-2547)TGC>TGT	p.C849C	GRIP1_uc001stj.1_Silent_p.C631C|GRIP1_uc001stl.1_Silent_p.C741C|GRIP1_uc001stm.1_Silent_p.C849C	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	901					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2														0.467811	617.078124	617.500168	218	248	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	Silent	SNP	65057251	65057251	7066	12	G	A	A	38	38	GRIP1	A	1	1
NOP2	4839	broad.mit.edu	36	12	6542887	6542887	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6542887C>T	uc001qph.1	-	c.731G>A	c.(730-732)GGA>GAA	p.G244E	NOP2_uc009zeq.1_5'UTR|NOP2_uc001qpi.1_Missense_Mutation_p.G244E|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	248					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2												OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.322581	26.337884	27.205006	10	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6542887	6542887	10941	12	C	T	T	30	30	NOP2	T	2	2
CAND1	55832	broad.mit.edu	36	12	65982431	65982431	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:65982431G>A	uc001stn.2	+	c.1062G>A	c.(1060-1062)GCG>GCA	p.A354A	CAND1_uc001sto.2_Silent_p.A32A	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	354	HEAT 8.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)	1														0.463612	490.351533	490.779923	172	199	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	Silent	SNP	65982431	65982431	2732	12	G	A	A	37	37	CAND1	A	1	1
CAND1	55832	broad.mit.edu	36	12	65982558	65982558	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:65982558G>A	uc001stn.2	+	c.1189G>A	c.(1189-1191)GCA>ACA	p.A397T	CAND1_uc001sto.2_Missense_Mutation_p.A75T	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	397	HEAT 9.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)	1														0.25	171.788585	189.52712	78	234	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	Missense_Mutation	SNP	65982558	65982558	2732	12	G	A	A	38	38	CAND1	A	1	1
ACRBP	84519	broad.mit.edu	36	12	6624027	6624027	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6624027C>A	uc001qpu.1	-	c.481G>T	c.(481-483)GAA>TAA	p.E161*		NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	161						acrosomal vesicle|extracellular region				central_nervous_system(1)	1														0.267857	66.087817	71.547088	30	82	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	6624027	6624027	171	12	C	A	A	32	32	ACRBP	A	5	3
ING4	51147	broad.mit.edu	36	12	6632191	6632191	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6632191C>T	uc001qpw.2	-	c.398G>A	c.(397-399)CGG>CAG	p.R133Q	ING4_uc001qpv.2_Missense_Mutation_p.R132Q|ING4_uc001qpx.2_Missense_Mutation_p.R130Q|ING4_uc001qpy.2_Missense_Mutation_p.R129Q|ING4_uc009zes.1_Missense_Mutation_p.R133Q|ING4_uc009zet.1_Missense_Mutation_p.R109Q|ING4_uc009zeu.1_Non-coding_Transcript|ING4_uc009zev.1_Non-coding_Transcript	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4 isoform 9	133					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|ovary(1)	4														0.413953	247.837237	249.225937	89	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6632191	6632191	8039	12	C	T	T	23	23	ING4	T	1	1
DYRK2	8445	broad.mit.edu	36	12	66329940	66329940	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:66329940C>T	uc001str.2	+	c.146C>T	c.(145-147)CCC>CTC	p.P49L	DYRK2_uc001sts.2_Intron	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	49					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|protein phosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4										47				0.421053	21.194908	21.29859	8	11	CC		KEEP	---	---	---	---	capture	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	Missense_Mutation	SNP	66329940	66329940	5042	12	C	T	T	22	22	DYRK2	T	2	2
DYRK2	8445	broad.mit.edu	36	12	66338086	66338086	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:66338086C>T	uc001str.2	+	c.1132C>T	c.(1132-1134)CGT>TGT	p.R378C	DYRK2_uc001sts.2_Missense_Mutation_p.R305C|DYRK2_uc009zqu.1_Missense_Mutation_p.R305C	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	378	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|protein phosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4										47				0.38	148.528182	150.426207	57	93	CC		KEEP	---	---	---	---	capture	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	Missense_Mutation	SNP	66338086	66338086	5042	12	C	T	T	27	27	DYRK2	T	1	1
DYRK2	8445	broad.mit.edu	36	12	66338712	66338712	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:66338712C>A	uc001str.2	+	c.1758C>A	c.(1756-1758)GCC>GCA	p.A586A	DYRK2_uc001sts.2_Silent_p.A513A|DYRK2_uc009zqu.1_Silent_p.A513A	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	586					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|protein phosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4										47				0.187037	191.537117	241.102309	101	439	CC		KEEP	---	---	---	---	capture	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	Silent	SNP	66338712	66338712	5042	12	C	A	A	21	21	DYRK2	A	3	3
ZNF384	171017	broad.mit.edu	36	12	6647318	6647318	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6647318T>G	uc001qpz.1	-	c.1374A>C	c.(1372-1374)CCA>CCC	p.P458P	ZNF384_uc001qqa.1_Silent_p.P458P|ZNF384_uc001qqb.1_Silent_p.P442P|ZNF384_uc001qqc.1_Silent_p.P458P|ZNF384_uc001qqd.1_Silent_p.P403P|ZNF384_uc001qqe.1_Silent_p.P442P	NM_001039916	NP_597733	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform a	519	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8										141				0.486486	173.244407	173.261806	54	57	TT		KEEP	---	---	---	---	capture			Silent	SNP	6647318	6647318	18467	12	T	G	G	59	59	ZNF384	G	4	4
ZNF384	171017	broad.mit.edu	36	12	6648472	6648472	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6648472G>A	uc001qpz.1	-	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	ZNF384_uc001qqa.1_Missense_Mutation_p.R379W|ZNF384_uc001qqb.1_Missense_Mutation_p.R363W|ZNF384_uc001qqc.1_Missense_Mutation_p.R379W|ZNF384_uc001qqd.1_Missense_Mutation_p.R324W|ZNF384_uc001qqe.1_Missense_Mutation_p.R363W	NM_001039916	NP_597733	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform a	440	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8										141				0.173469	30.41318	40.281385	17	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6648472	6648472	18467	12	G	A	A	37	37	ZNF384	A	1	1
IL22	50616	broad.mit.edu	36	12	66933480	66933480	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:66933480T>G	uc001sty.1	-	c.16A>C	c.(16-18)AAA>CAA	p.K6Q		NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	interleukin 22	6					acute-phase response|cell-cell signaling	extracellular space	cytokine activity|interleukin-22 receptor binding				0		Myeloproliferative disorder(1001;0.0255)												0.490909	181.732214	181.740301	54	56	TT		KEEP	---	---	---	---	capture	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	Missense_Mutation	SNP	66933480	66933480	7973	12	T	G	G	62	62	IL22	G	4	4
MDM1	56890	broad.mit.edu	36	12	66975398	66975398	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:66975398G>A	uc001stz.2	-	c.2048C>T	c.(2047-2049)TCT>TTT	p.S683F	MDM1_uc009zqv.1_Missense_Mutation_p.S403F	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	683						nucleus				ovary(3)	3														0.511628	195.241607	195.256485	66	63	GG		KEEP	---	---	---	---	capture	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	Missense_Mutation	SNP	66975398	66975398	9801	12	G	A	A	33	33	MDM1	A	2	2
RAP1B	5908	broad.mit.edu	36	12	67334223	67334223	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:67334223C>T	uc001sub.1	+	c.248C>T	c.(247-249)TCC>TTC	p.S83F	RAP1B_uc001suc.1_Missense_Mutation_p.S83F	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family-like	83					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)													0.415704	514.404298	517.094641	180	253	CC		KEEP	---	---	---	---	capture	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	Missense_Mutation	SNP	67334223	67334223	13496	12	C	T	T	30	30	RAP1B	T	2	2
RAP1B	5908	broad.mit.edu	36	12	67336365	67336365	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:67336365C>A	uc001sub.1	+	c.337C>A	c.(337-339)CTT>ATT	p.L113I	RAP1B_uc001suc.1_Missense_Mutation_p.L113I	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family-like	113					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)													0.209559	109.599129	130.863811	57	215	CC		KEEP	---	---	---	---	capture	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	Missense_Mutation	SNP	67336365	67336365	13496	12	C	A	A	32	32	RAP1B	A	3	3
NUP107	57122	broad.mit.edu	36	12	67415346	67415346	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:67415346C>T	uc001suf.1	+	c.2457C>T	c.(2455-2457)AAC>AAT	p.N819N	NUP107_uc001sug.1_Silent_p.N578N	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	819					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding				0	Breast(13;6.25e-06)													0.44868	429.218864	430.002399	153	188	CC		KEEP	---	---	---	---	capture	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		Silent	SNP	67415346	67415346	11158	12	C	T	T	19	19	NUP107	T	1	1
MDM2	4193	broad.mit.edu	36	12	67504431	67504431	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:67504431C>T	uc001sui.1	+	c.380C>T	c.(379-381)TCT>TTT	p.S127F	MDM2_uc009zqw.1_Missense_Mutation_p.S127F|MDM2_uc001suk.1_Intron|MDM2_uc001sul.1_Missense_Mutation_p.S20F|MDM2_uc009zqx.1_Intron|MDM2_uc009zqy.1_Missense_Mutation_p.S116F|MDM2_uc009zqz.1_Missense_Mutation_p.S116F|MDM2_uc001sun.2_Intron|MDM2_uc009zra.1_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrc.1_5'UTR|MDM2_uc009zrd.1_5'UTR|MDM2_uc009zre.1_Intron|MDM2_uc009zrf.1_Intron|MDM2_uc009zrg.1_Intron|MDM2_uc001suo.1_Intron|MDM2_uc009zrh.1_Intron	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	121					cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	basal transcription repressor activity|enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)									221				0.425287	105.45229	105.877596	37	50	CC		KEEP	---	---	---	---	capture	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		Missense_Mutation	SNP	67504431	67504431	9802	12	C	T	T	32	32	MDM2	T	2	2
CD4	920	broad.mit.edu	36	12	6795784	6795784	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6795784G>A	uc001qqv.1	+	c.909G>A	c.(907-909)GCG>GCA	p.A303A	CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_Non-coding_Transcript|CD4_uc009zfb.1_Non-coding_Transcript|CD4_uc009zfc.1_Silent_p.A124A	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	303	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)												0.435644	122.17935	122.544801	44	57	GG		KEEP	---	---	---	---	capture			Silent	SNP	6795784	6795784	3142	12	G	A	A	37	37	CD4	A	1	1
LEPREL2	10536	broad.mit.edu	36	12	6816481	6816481	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6816481C>T	uc001qra.1	+	c.1530C>T	c.(1528-1530)TTC>TTT	p.F510F	LEPREL2_uc001qqz.1_Silent_p.F317F|LEPREL2_uc001qrb.1_Silent_p.F317F|GNB3_uc001qrc.1_5'Flank	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2	510					negative regulation of cell proliferation|oxidation-reduction process	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.135417	14.705995	27.08747	13	83	CC		KEEP	---	---	---	---	capture			Silent	SNP	6816481	6816481	9055	12	C	T	T	31	31	LEPREL2	T	1	1
GNB3	2784	broad.mit.edu	36	12	6822423	6822423	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6822423G>A	uc001qrd.1	+	c.125G>A	c.(124-126)CGA>CAA	p.R42Q	GNB3_uc001qrc.1_5'UTR|GNB3_uc009zfe.1_Missense_Mutation_p.R42Q	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	42					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|signal transducer activity				0														0.418605	98.792712	99.287451	36	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6822423	6822423	6788	12	G	A	A	37	37	GNB3	A	1	1
CCT2	10576	broad.mit.edu	36	12	68278016	68278016	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:68278016C>T	uc001svb.1	+	c.1233C>T	c.(1231-1233)GGC>GGT	p.G411G	CCT2_uc009zrm.1_Intron|CCT2_uc009zrn.1_Silent_p.G411G	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	411					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)													0.328358	55.62318	57.375414	22	45	CC		KEEP	---	---	---	---	capture	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		Silent	SNP	68278016	68278016	3080	12	C	T	T	28	28	CCT2	T	2	2
LRRC10	376132	broad.mit.edu	36	12	68290265	68290265	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:68290265G>A	uc001svc.1	-	c.621C>T	c.(619-621)AGC>AGT	p.S207S		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	207	LRR 7.					nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)													0.225352	70.823459	80.666164	32	110	GG		KEEP	---	---	---	---	capture	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		Silent	SNP	68290265	68290265	9340	12	G	A	A	42	42	LRRC10	A	2	2
RAB3IP	117177	broad.mit.edu	36	12	68492902	68492902	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:68492902T>C	uc001svp.1	+	c.1256T>C	c.(1255-1257)ATT>ACT	p.I419T	RAB3IP_uc001svm.1_Missense_Mutation_p.I403T|RAB3IP_uc001svn.1_Intron|RAB3IP_uc001svo.1_Non-coding_Transcript|RAB3IP_uc001svq.1_Intron|RAB3IP_uc001svr.1_Intron|RAB3IP_uc001svs.1_Non-coding_Transcript|RAB3IP_uc001svt.1_Missense_Mutation_p.I197T	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	419					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	centrosome|cytosol|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)													0.483092	348.009878	348.060303	100	107	TT		KEEP	---	---	---	---	capture	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		Missense_Mutation	SNP	68492902	68492902	13397	12	T	C	C	52	52	RAB3IP	C	4	4
ENO2	2026	broad.mit.edu	36	12	6896519	6896519	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6896519G>A	uc001qru.1	+	c.297G>A	c.(295-297)GGG>GGA	p.G99G	ENO2_uc009zfi.1_Silent_p.G99G|ENO2_uc001qrv.1_Silent_p.G99G	NM_001975	NP_001966	P09104	ENOG_HUMAN	enolase 2	99					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity				0														0.424084	221.207808	222.174582	81	110	GG		KEEP	---	---	---	---	capture			Silent	SNP	6896519	6896519	5315	12	G	A	A	41	41	ENO2	A	2	2
CNOT2	4848	broad.mit.edu	36	12	69010457	69010457	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:69010457G>A	uc001svv.1	+	c.510G>A	c.(508-510)TCG>TCA	p.S170S	CNOT2_uc009zro.1_Silent_p.S170S|CNOT2_uc009zrp.1_Silent_p.S150S|CNOT2_uc009zrq.1_Silent_p.S170S	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	170					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter, global|transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA polymerase II transcription mediator activity				0	Renal(347;0.236)													0.221014	124.131877	143.91612	61	215	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Silent	SNP	69010457	69010457	3757	12	G	A	A	38	38	CNOT2	A	1	1
ATN1	1822	broad.mit.edu	36	12	6918333	6918333	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6918333C>T	uc001qrw.1	+	c.2946C>T	c.(2944-2946)GGC>GGT	p.G982G	ATN1_uc001qrx.1_Silent_p.G982G	NM_001007026	NP_001931	P54259	ATN1_HUMAN	atrophin-1	982					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)	5														0.5	269.481676	269.481676	98	98	CC		KEEP	---	---	---	---	capture			Silent	SNP	6918333	6918333	1130	12	C	T	T	26	26	ATN1	T	2	2
PTPRB	5787	broad.mit.edu	36	12	69220022	69220022	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:69220022C>T	uc001swc.2	-	c.5642G>A	c.(5641-5643)CGA>CAA	p.R1881Q	PTPRB_uc001swb.2_Missense_Mutation_p.R1663Q|PTPRB_uc001swa.2_Missense_Mutation_p.R1793Q	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1663	Cytoplasmic (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)													0.254902	59.798125	65.360904	26	76	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		Missense_Mutation	SNP	69220022	69220022	13253	12	C	T	T	31	31	PTPRB	T	1	1
PTPN6	5777	broad.mit.edu	36	12	6934332	6934332	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6934332G>T	uc009zfl.1	+	c.430G>T	c.(430-432)GAC>TAC	p.D144Y	PTPN6_uc001qsa.1_Missense_Mutation_p.D146Y|PTPN6_uc001qsb.2_Missense_Mutation_p.D144Y	NM_080549	NP_536859	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	144	SH2 2.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|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|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1														0.205	75.856694	92.014993	41	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6934332	6934332	13249	12	G	T	T	33	33	PTPN6	T	3	3
LPCAT3	10162	broad.mit.edu	36	12	6957063	6957063	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6957063G>A	uc001qsi.1	-	c.1146C>T	c.(1144-1146)GTC>GTT	p.V382V	LPCAT3_uc009zfp.1_Non-coding_Transcript|LPCAT3_uc009zfq.1_Silent_p.V240V	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	O-acyltransferase (membrane bound) domain	382	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1														0.410557	409.332532	411.716064	140	201	GG		KEEP	---	---	---	---	capture			Silent	SNP	6957063	6957063	9285	12	G	A	A	33	33	LPCAT3	A	2	2
LGR5	8549	broad.mit.edu	36	12	70236687	70236687	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:70236687C>T	uc001swl.1	+	c.666C>T	c.(664-666)ATC>ATT	p.I222I	LGR5_uc001swm.1_Silent_p.I222I|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	222	LRR 7.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.230496	144.412467	163.199919	65	217	CC		KEEP	---	---	---	---	capture			Silent	SNP	70236687	70236687	9083	12	C	T	T	30	30	LGR5	T	2	2
LGR5	8549	broad.mit.edu	36	12	70241854	70241854	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:70241854C>T	uc001swl.1	+	c.812C>T	c.(811-813)TCG>TTG	p.S271L	LGR5_uc001swm.1_Intron|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	271	LRR 9.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2									p.S271L(HT115-Tumor)	516				0.484375	90.218672	90.232374	31	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70241854	70241854	9083	12	C	T	T	31	31	LGR5	T	1	1
LGR5	8549	broad.mit.edu	36	12	70252965	70252965	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:70252965C>T	uc001swl.1	+	c.1205C>T	c.(1204-1206)TCG>TTG	p.S402L	LGR5_uc001swm.1_Missense_Mutation_p.S378L|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	402	LRR 15.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.190476	62.099146	77.150402	32	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70252965	70252965	9083	12	C	T	T	31	31	LGR5	T	1	1
ZFC3H1	196441	broad.mit.edu	36	12	70310984	70310984	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:70310984C>T	uc001swo.1	-	c.3488G>A	c.(3487-3489)CGA>CAA	p.R1163Q		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1163					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.387597	138.034583	139.457312	50	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70310984	70310984	18221	12	C	T	T	31	31	ZFC3H1	T	1	1
ZFC3H1	196441	broad.mit.edu	36	12	70343062	70343062	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:70343062C>T	uc001swo.1	-	c.596G>A	c.(595-597)AGC>AAC	p.S199N	ZFC3H1_uc001swp.2_Missense_Mutation_p.S199N|THAP2_uc001swq.1_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	199					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.206485	254.798566	301.570007	121	465	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70343062	70343062	18221	12	C	T	T	28	28	ZFC3H1	T	2	2
TMEM19	55266	broad.mit.edu	36	12	70379048	70379048	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:70379048G>T	uc001sws.1	+	c.739G>T	c.(739-741)GAT>TAT	p.D247Y	TMEM19_uc001swr.1_Missense_Mutation_p.D233Y|TMEM19_uc009zru.1_Non-coding_Transcript	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	transmembrane protein 19	247						integral to membrane					0		Breast(359;0.0889)												0.170968	86.459063	118.227979	53	257	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.044)	Missense_Mutation	SNP	70379048	70379048	16647	12	G	T	T	45	45	TMEM19	T	3	3
C1S	716	broad.mit.edu	36	12	7043498	7043498	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7043498G>A	uc001qsj.1	+	c.834G>A	c.(832-834)GGG>GGA	p.G278G	C1S_uc001qsl.1_Silent_p.G278G|C1S_uc009zfr.1_Silent_p.G111G|C1S_uc001qsk.1_Silent_p.G278G|C1S_uc009zfs.1_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	278	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GBM(156;750 1943 12971 24779 31015)								0.408537	183.681413	184.882961	67	97	GG		KEEP	---	---	---	---	capture			Silent	SNP	7043498	7043498	2041	12	G	A	A	42	42	C1S	A	2	2
TBC1D15	64786	broad.mit.edu	36	12	70574375	70574375	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:70574375G>T	uc001swu.1	+	c.661G>T	c.(661-663)GGA>TGA	p.G221*	TBC1D15_uc009zrv.1_Intron|TBC1D15_uc001swv.1_Intron|TBC1D15_uc001sww.1_Intron	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	221							protein binding|Rab GTPase activator activity				0														0.170616	59.051134	80.725335	36	175	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	70574375	70574375	16126	12	G	T	T	35	35	TBC1D15	T	5	3
C1R	715	broad.mit.edu	36	12	7058210	7058210	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7058210G>A	uc001qsm.1	-	c.1999C>T	c.(1999-2001)CGC>TGC	p.R667C		NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	667	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.525862	168.880753	168.950643	61	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7058210	7058210	2039	12	G	A	A	37	37	C1R	A	1	1
C1R	715	broad.mit.edu	36	12	7058649	7058649	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7058649G>A	uc001qsm.1	-	c.1560C>T	c.(1558-1560)TTC>TTT	p.F520F		NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	520	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.252964	149.067737	163.096218	64	189	GG		KEEP	---	---	---	---	capture			Silent	SNP	7058649	7058649	2039	12	G	A	A	41	41	C1R	A	2	2
TRHDE	29953	broad.mit.edu	36	12	71179566	71179566	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:71179566G>A	uc001sxa.1	+	c.1471G>A	c.(1471-1473)GAT>AAT	p.D491N		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	491	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.208696	48.236442	57.275299	24	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71179566	71179566	17023	12	G	A	A	37	37	TRHDE	A	1	1
C1RL	51279	broad.mit.edu	36	12	7140333	7140333	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7140333G>T	uc001qsn.1	-	c.1260C>A	c.(1258-1260)TTC>TTA	p.F420L	C1RL_uc009zft.1_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	420	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1														0.218182	187.104477	219.386356	96	344	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7140333	7140333	2040	12	G	T	T	33	33	C1RL	T	3	3
PEX5	5830	broad.mit.edu	36	12	7246548	7246548	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7246548G>A	uc009zfu.1	+	c.827G>A	c.(826-828)CGA>CAA	p.R276Q	PEX5_uc001qsu.1_Missense_Mutation_p.R239Q|PEX5_uc009zfv.1_Missense_Mutation_p.R276Q|PEX5_uc001qsv.1_Missense_Mutation_p.R276Q|PEX5_uc001qsw.1_Missense_Mutation_p.R276Q	NM_000319	NP_000310	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform b	276					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1														0.495726	168.53962	168.541557	58	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7246548	7246548	12170	12	G	A	A	37	37	PEX5	A	1	1
ACSM4	341392	broad.mit.edu	36	12	7354540	7354540	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7354540A>T	uc001qsx.1	+	c.551A>T	c.(550-552)GAC>GTC	p.D184V		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member	184					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0														0.533333	46.099206	46.128089	16	14	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7354540	7354540	187	12	A	T	T	10	10	ACSM4	T	4	4
ACSM4	341392	broad.mit.edu	36	12	7362011	7362011	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7362011G>A	uc001qsx.1	+	c.887G>A	c.(886-888)CGA>CAA	p.R296Q		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member	296					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0														0.240566	113.931589	126.94644	51	161	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7362011	7362011	187	12	G	A	A	37	37	ACSM4	A	1	1
ACSM4	341392	broad.mit.edu	36	12	7368172	7368172	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7368172G>A	uc001qsx.1	+	c.1345G>A	c.(1345-1347)GAT>AAT	p.D449N		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member	449					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0														0.245902	38.194235	41.780839	15	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7368172	7368172	187	12	G	A	A	33	33	ACSM4	A	2	2
KCNC2	3747	broad.mit.edu	36	12	73730964	73730964	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:73730964C>T	uc001sxg.1	-	c.1088G>A	c.(1087-1089)CGC>CAC	p.R363H	KCNC2_uc009zry.1_Missense_Mutation_p.R363H|KCNC2_uc001sxe.1_Missense_Mutation_p.R363H|KCNC2_uc001sxf.1_Missense_Mutation_p.R363H	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	363	Helical; Voltage-sensor; Name=Segment S4; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6														0.452381	156.369575	156.616119	57	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73730964	73730964	8320	12	C	T	T	27	27	KCNC2	T	1	1
GLIPR1L1	256710	broad.mit.edu	36	12	74027695	74027695	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:74027695C>T	uc001sxo.1	+	c.447C>T	c.(445-447)GTC>GTT	p.V149V	CAPS2_uc001sxm.2_Intron|CAPS2_uc009zsa.1_Intron|GLIPR1L1_uc001sxn.1_Silent_p.V149V	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	149						extracellular region					0														0.091216	6.385494	56.262064	27	269	CC		KEEP	---	---	---	---	capture			Silent	SNP	74027695	74027695	6710	12	C	T	T	31	31	GLIPR1L1	T	1	1
CD163L1	283316	broad.mit.edu	36	12	7413420	7413420	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7413420G>A	uc001qsy.1	-	c.3839C>T	c.(3838-3840)GCG>GTG	p.A1280V		NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1280	SRCR 12.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.176955	67.487296	91.398024	43	200	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7413420	7413420	3095	12	G	A	A	38	38	CD163L1	A	1	1
CD163L1	283316	broad.mit.edu	36	12	7417308	7417308	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7417308G>T	uc001qsy.1	-	c.3605C>A	c.(3604-3606)TCT>TAT	p.S1202Y		NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1202	SRCR 11.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.208494	103.293027	123.694015	54	205	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7417308	7417308	3095	12	G	T	T	33	33	CD163L1	T	3	3
KRR1	11103	broad.mit.edu	36	12	74184008	74184008	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:74184008C>A	uc001sxt.1	-	c.774G>T	c.(772-774)AAG>AAT	p.K258N	KRR1_uc009zsc.1_Intron	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	258	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2														0.242563	222.298732	248.742107	106	331	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74184008	74184008	8761	12	C	A	A	32	32	KRR1	A	3	3
NAP1L1	4673	broad.mit.edu	36	12	74733850	74733850	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:74733850G>T	uc001sxw.1	-	c.737C>A	c.(736-738)TCT>TAT	p.S246Y	NAP1L1_uc001sxv.1_Missense_Mutation_p.S204Y|NAP1L1_uc001sxx.1_Missense_Mutation_p.S246Y|NAP1L1_uc001sxy.1_Missense_Mutation_p.S183Y|NAP1L1_uc001sxz.1_Missense_Mutation_p.S177Y|NAP1L1_uc001syc.1_Missense_Mutation_p.S257Y|NAP1L1_uc001syb.1_Missense_Mutation_p.S246Y|NAP1L1_uc001sya.1_Missense_Mutation_p.S204Y	NM_004537	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	246					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)	1		Colorectal(145;0.09)												0.242424	86.105901	96.098802	40	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74733850	74733850	10552	12	G	T	T	33	33	NAP1L1	T	3	3
BBS10	79738	broad.mit.edu	36	12	75265423	75265423	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75265423G>A	uc001syd.1	-	c.473C>T	c.(472-474)TCG>TTG	p.S158L		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	158					cellular protein metabolic process|photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	cilium	ATP binding			ovary(1)	1														0.219178	68.923898	79.530877	32	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75265423	75265423	1357	12	G	A	A	37	37	BBS10	A	1	1
OSBPL8	114882	broad.mit.edu	36	12	75287653	75287653	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75287653G>A	uc001sye.1	-	c.2135C>T	c.(2134-2136)GCT>GTT	p.A712V	OSBPL8_uc001syf.1_Missense_Mutation_p.A670V|OSBPL8_uc001syg.1_Missense_Mutation_p.A670V|OSBPL8_uc001syh.1_Missense_Mutation_p.A687V	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	712					lipid transport		lipid binding			ovary(1)	1														0.246305	116.338921	128.2433	50	153	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75287653	75287653	11694	12	G	A	A	34	34	OSBPL8	A	2	2
CD163	9332	broad.mit.edu	36	12	7530421	7530421	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7530421G>A	uc001qsz.2	-	c.2399C>T	c.(2398-2400)TCA>TTA	p.S800L	CD163_uc001qta.2_Missense_Mutation_p.S800L|CD163_uc009zfw.1_Missense_Mutation_p.S833L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	800	SRCR 7.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8														0.426374	511.168332	513.339378	194	261	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7530421	7530421	3094	12	G	A	A	45	45	CD163	A	2	2
OSBPL8	114882	broad.mit.edu	36	12	75304553	75304553	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75304553A>C	uc001sye.1	-	c.1371T>G	c.(1369-1371)AAT>AAG	p.N457K	OSBPL8_uc001syf.1_Missense_Mutation_p.N415K|OSBPL8_uc001syg.1_Missense_Mutation_p.N415K|OSBPL8_uc001syh.1_Missense_Mutation_p.N432K	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	457					lipid transport		lipid binding			ovary(1)	1														0.419913	328.355475	329.643481	97	134	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75304553	75304553	11694	12	A	C	C	12	12	OSBPL8	C	4	4
OSBPL8	114882	broad.mit.edu	36	12	75368867	75368867	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75368867G>A	uc001sye.1	-	c.112C>T	c.(112-114)CTG>TTG	p.L38L	OSBPL8_uc001syf.1_5'UTR|OSBPL8_uc001syg.1_5'UTR	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	38					lipid transport		lipid binding			ovary(1)	1														0.236181	113.314576	125.98447	47	152	GG		KEEP	---	---	---	---	capture			Silent	SNP	75368867	75368867	11694	12	G	A	A	33	33	OSBPL8	A	2	2
OSBPL8	114882	broad.mit.edu	36	12	75377803	75377803	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75377803G>T	uc001sye.1	-	c.46C>A	c.(46-48)CTT>ATT	p.L16I	OSBPL8_uc001syf.1_Intron|OSBPL8_uc001syg.1_Intron	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	16					lipid transport		lipid binding			ovary(1)	1														0.216783	61.635531	72.227002	31	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75377803	75377803	11694	12	G	T	T	33	33	OSBPL8	T	3	3
OSBPL8	114882	broad.mit.edu	36	12	75405422	75405422	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75405422G>A	uc001sye.1	-	c.41C>T	c.(40-42)TCG>TTG	p.S14L	OSBPL8_uc001syf.1_5'UTR|OSBPL8_uc001syg.1_5'UTR	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	14					lipid transport		lipid binding			ovary(1)	1														0.413043	105.331318	105.939038	38	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75405422	75405422	11694	12	G	A	A	37	37	OSBPL8	A	1	1
ZDHHC17	23390	broad.mit.edu	36	12	75740320	75740320	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75740320G>A	uc001syk.1	+	c.775G>A	c.(775-777)GAA>AAA	p.E259K	ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.1_Non-coding_Transcript	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	259	Cytoplasmic (Potential).				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0														0.170213	28.337778	38.01434	16	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75740320	75740320	18195	12	G	A	A	37	37	ZDHHC17	A	1	1
CSRP2	1466	broad.mit.edu	36	12	75776897	75776897	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75776897C>T	uc001syl.1	-	c.548G>A	c.(547-549)GGC>GAC	p.G183D		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	183	Gly-rich.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1														0.197802	74.399292	89.874923	36	146	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75776897	75776897	4108	12	C	T	T	26	26	CSRP2	T	2	2
E2F7	144455	broad.mit.edu	36	12	75973790	75973790	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75973790G>A	uc001sym.2	-	c.345C>T	c.(343-345)GAC>GAT	p.D115D	E2F7_uc001syn.2_Silent_p.D115D	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	115					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|identical protein binding			ovary(1)|kidney(1)	2														0.355401	264.359932	269.6508	102	185	GG		KEEP	---	---	---	---	capture			Silent	SNP	75973790	75973790	5058	12	G	A	A	40	40	E2F7	A	1	1
NAV3	89795	broad.mit.edu	36	12	77055137	77055137	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:77055137G>A	uc001syp.1	+	c.4491G>A	c.(4489-4491)ATG>ATA	p.M1497I	NAV3_uc001syo.1_Missense_Mutation_p.M1497I|NAV3_uc009zsf.1_Missense_Mutation_p.M328I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1497	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.512658	224.243435	224.264494	81	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77055137	77055137	10581	12	G	A	A	46	46	NAV3	A	2	2
NAV3	89795	broad.mit.edu	36	12	77098791	77098791	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:77098791G>A	uc001syp.1	+	c.5527G>A	c.(5527-5529)GAA>AAA	p.E1843K	NAV3_uc001syo.1_Missense_Mutation_p.E1821K|NAV3_uc009zsf.1_Missense_Mutation_p.E652K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1843	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.25	30.989445	34.404417	15	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77098791	77098791	10581	12	G	A	A	45	45	NAV3	A	2	2
NAV3	89795	broad.mit.edu	36	12	77117363	77117363	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:77117363A>C	uc001syp.1	+	c.6636A>C	c.(6634-6636)AAA>AAC	p.K2212N	NAV3_uc001syo.1_Missense_Mutation_p.K2190N|NAV3_uc009zsf.1_Missense_Mutation_p.K1021N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2212						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.47449	315.472278	315.582435	93	103	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77117363	77117363	10581	12	A	C	C	1	1	NAV3	C	4	4
NAV3	89795	broad.mit.edu	36	12	77122908	77122908	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:77122908G>T	uc001syp.1	+	c.6897G>T	c.(6895-6897)TGG>TGT	p.W2299C	NAV3_uc001syo.1_Missense_Mutation_p.W2277C|NAV3_uc009zsf.1_Missense_Mutation_p.W1108C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2299						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.178862	36.667296	48.616724	22	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77122908	77122908	10581	12	G	T	T	41	41	NAV3	T	3	3
NAV3	89795	broad.mit.edu	36	12	77128340	77128340	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:77128340C>T	uc001syp.1	+	c.7070C>T	c.(7069-7071)GCC>GTC	p.A2357V	NAV3_uc001syo.1_Missense_Mutation_p.A2335V|NAV3_uc009zsf.1_Missense_Mutation_p.A1166V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2357						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.426087	138.251553	138.800449	49	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77128340	77128340	10581	12	C	T	T	26	26	NAV3	T	2	2
NANOG	79923	broad.mit.edu	36	12	7833528	7833528	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7833528C>T	uc009zfy.1	+	c.51C>T	c.(49-51)TCC>TCT	p.S17S		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Nanog homeobox	17					cell proliferation|embryo development|regulation of transcription, DNA-dependent|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.377289	309.865924	313.470579	103	170	CC		KEEP	---	---	---	---	capture		Kidney(36;0.0872)	Silent	SNP	7833528	7833528	10546	12	C	T	T	23	23	NANOG	T	1	1
NANOG	79923	broad.mit.edu	36	12	7838354	7838354	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7838354C>A	uc009zfy.1	+	c.449C>A	c.(448-450)TCT>TAT	p.S150Y		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Nanog homeobox	150	Homeobox.				cell proliferation|embryo development|regulation of transcription, DNA-dependent|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.26087	39.911813	43.488592	18	51	CC		KEEP	---	---	---	---	capture		Kidney(36;0.0872)	Missense_Mutation	SNP	7838354	7838354	10546	12	C	A	A	32	32	NANOG	A	3	3
SLC2A14	144195	broad.mit.edu	36	12	7872693	7872693	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7872693G>A	uc001qtk.1	-	c.619C>T	c.(619-621)CTA>TTA	p.L207L	SLC2A14_uc001qtl.1_Silent_p.L184L|SLC2A14_uc001qtm.1_Silent_p.L184L|SLC2A14_uc001qtn.1_Silent_p.L207L|SLC2A14_uc001qto.1_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	207	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1														0.179104	65.170182	84.657303	36	165	GG		KEEP	---	---	---	---	capture		Kidney(36;0.0883)	Silent	SNP	7872693	7872693	15040	12	G	A	A	34	34	SLC2A14	A	2	2
ACSS3	79611	broad.mit.edu	36	12	80052728	80052728	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:80052728C>T	uc001szl.1	+	c.459C>T	c.(457-459)GTC>GTT	p.V153V	ACSS3_uc001szm.1_Silent_p.V152V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	153						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.395604	101.575305	102.444892	36	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	80052728	80052728	191	12	C	T	T	32	32	ACSS3	T	2	2
ACSS3	79611	broad.mit.edu	36	12	80052897	80052897	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:80052897C>T	uc001szl.1	+	c.628C>T	c.(628-630)CGC>TGC	p.R210C	ACSS3_uc001szm.1_Missense_Mutation_p.R209C	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	210						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.128049	25.464106	47.577247	21	143	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80052897	80052897	191	12	C	T	T	31	31	ACSS3	T	1	1
ACSS3	79611	broad.mit.edu	36	12	80057069	80057069	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:80057069G>T	uc001szl.1	+	c.674G>T	c.(673-675)GGC>GTC	p.G225V	ACSS3_uc001szm.1_Missense_Mutation_p.G224V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	225						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.184211	67.516855	85.29117	35	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80057069	80057069	191	12	G	T	T	42	42	ACSS3	T	3	3
ACSS3	79611	broad.mit.edu	36	12	80151382	80151382	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:80151382G>A	uc001szl.1	+	c.1719_splice	c.e13+1	p.E573_splice	ACSS3_uc001szm.1_Splice_Site_SNP_p.E572_splice|ACSS3_uc001szn.1_Splice_Site_SNP_p.E255_splice	NM_024560	NP_078836			acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.472441	335.660456	335.829556	120	134	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	80151382	80151382	191	12	G	A	A	44	44	ACSS3	A	5	2
WNK1	65125	broad.mit.edu	36	12	809518	809518	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:809518G>T	uc001qio.2	+	c.1242G>T	c.(1240-1242)GAG>GAT	p.E414D	WNK1_uc001qip.2_Missense_Mutation_p.E414D	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	414	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development|protein phosphorylation	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			ovary(5)|breast(4)|large_intestine(1)|lung(1)|central_nervous_system(1)	12	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)					Colon(19;451 567 6672 12618 28860)				913				0.257028	136.322293	149.703761	64	185	GG		KEEP	---	---	---	---	capture	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		Missense_Mutation	SNP	809518	809518	17951	12	G	T	T	33	33	WNK1	T	3	3
FOXJ2	55810	broad.mit.edu	36	12	8096639	8096639	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8096639C>T	uc001qtu.1	+	c.1651C>T	c.(1651-1653)CCT>TCT	p.P551S		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	551					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|nucleus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|skin(1)	3														0.17284	28.697873	36.88793	14	67	CC		KEEP	---	---	---	---	capture		Kidney(36;0.0944)	Missense_Mutation	SNP	8096639	8096639	6258	12	C	T	T	22	22	FOXJ2	T	2	2
C3AR1	719	broad.mit.edu	36	12	8103849	8103849	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8103849G>A	uc001qtv.1	-	c.200C>T	c.(199-201)GCG>GTG	p.A67V	C3AR1_uc009zfz.1_Missense_Mutation_p.A67V	NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	67	Helical; Name=2; (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1														0.340426	76.75603	78.87883	32	62	GG		KEEP	---	---	---	---	capture		Kidney(36;0.0893)	Missense_Mutation	SNP	8103849	8103849	2297	12	G	A	A	38	38	C3AR1	A	1	1
CCDC59	29080	broad.mit.edu	36	12	81275167	81275167	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:81275167G>T	uc001szp.2	-	c.167C>A	c.(166-168)GCT>GAT	p.A56D	C12orf26_uc001szq.1_5'Flank	NM_014167	NP_054886	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0														0.183099	49.95998	63.353574	26	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81275167	81275167	2952	12	G	T	T	34	34	CCDC59	T	3	3
NECAP1	25977	broad.mit.edu	36	12	8135667	8135667	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8135667C>T	uc001qtx.1	+	c.337C>T	c.(337-339)CGG>TGG	p.R113W	NECAP1_uc001qty.1_Intron	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	113					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1														0.192982	19.691289	24.710812	11	46	CC		KEEP	---	---	---	---	capture		Kidney(36;0.0915)	Missense_Mutation	SNP	8135667	8135667	10706	12	C	T	T	31	31	NECAP1	T	1	1
C12orf26	84190	broad.mit.edu	36	12	81356684	81356684	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:81356684T>G	uc001szq.1	+	c.1461T>G	c.(1459-1461)TGT>TGG	p.C487W		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	487											0														0.243243	150.018233	163.382698	54	168	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81356684	81356684	1723	12	T	G	G	60	60	C12orf26	G	4	4
TMTC2	160335	broad.mit.edu	36	12	81775093	81775093	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:81775093G>T	uc001szt.1	+	c.257G>T	c.(256-258)AGC>ATC	p.S86I	TMTC2_uc001szr.1_Missense_Mutation_p.S86I|TMTC2_uc001szs.1_Missense_Mutation_p.S86I	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	86	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2														0.394137	330.29237	333.307354	121	186	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81775093	81775093	16802	12	G	T	T	34	34	TMTC2	T	3	3
CLEC4A	50856	broad.mit.edu	36	12	8180767	8180767	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8180767G>A	uc001qtz.1	+	c.566_splice	c.e5+1	p.T189_splice	CLEC4A_uc009zga.1_Splice_Site_SNP_p.T150_splice|CLEC4A_uc001qub.1_Splice_Site_SNP_p.T156_splice|CLEC4A_uc001quc.1_Splice_Site_SNP_p.T117_splice|CLEC4A_uc009zgb.1_Splice_Site_SNP	NM_016184	NP_057268			C-type lectin domain family 4, member A isoform						cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0														0.181159	44.186676	57.379462	25	113	GG		KEEP	---	---	---	---	capture		Kidney(36;0.0915)	Splice_Site_SNP	SNP	8180767	8180767	3650	12	G	A	A	40	40	CLEC4A	A	5	1
WNK1	65125	broad.mit.edu	36	12	836636	836636	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:836636G>A	uc001qio.2	+	c.1360G>A	c.(1360-1362)GAA>AAA	p.E454K	WNK1_uc001qip.2_Missense_Mutation_p.E454K	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	454	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development|protein phosphorylation	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			ovary(5)|breast(4)|large_intestine(1)|lung(1)|central_nervous_system(1)	12	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)					Colon(19;451 567 6672 12618 28860)				913				0.201613	52.49944	62.764219	25	99	GG		KEEP	---	---	---	---	capture	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		Missense_Mutation	SNP	836636	836636	17951	12	G	A	A	41	41	WNK1	A	2	2
SLC6A15	55117	broad.mit.edu	36	12	83790621	83790621	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:83790621A>G	uc001szv.1	-	c.1193T>C	c.(1192-1194)GTT>GCT	p.V398A	SLC6A15_uc001szw.1_Missense_Mutation_p.V106A	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	398	Extracellular (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3														0.161972	52.240741	67.663509	23	119	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83790621	83790621	15175	12	A	G	G	2	2	SLC6A15	G	4	4
SLC6A15	55117	broad.mit.edu	36	12	83809801	83809801	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:83809801A>C	uc001szv.1	-	c.230T>G	c.(229-231)TTT>TGT	p.F77C	SLC6A15_uc001szy.1_Missense_Mutation_p.F77C	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	77	Helical; Name=1; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3														0.213559	161.368368	183.721706	63	232	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83809801	83809801	15175	12	A	C	C	1	1	SLC6A15	C	4	4
LRRIQ1	84125	broad.mit.edu	36	12	83974420	83974420	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:83974420A>C	uc001tac.1	+	c.1718A>C	c.(1717-1719)AAA>ACA	p.K573T	LRRIQ1_uc001tab.1_Missense_Mutation_p.K573T|LRRIQ1_uc001taa.1_Missense_Mutation_p.K548T	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	573										ovary(4)|central_nervous_system(1)	5														0.268908	94.550979	100.28386	32	87	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.212)	Missense_Mutation	SNP	83974420	83974420	9405	12	A	C	C	1	1	LRRIQ1	C	4	4
MGAT4C	25834	broad.mit.edu	36	12	84898018	84898018	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:84898018T>C	uc001tai.2	-	c.617A>G	c.(616-618)TAT>TGT	p.Y206C	MGAT4C_uc001tah.2_Missense_Mutation_p.Y206C|MGAT4C_uc001tal.2_Missense_Mutation_p.Y206C|MGAT4C_uc001taj.2_Missense_Mutation_p.Y206C|MGAT4C_uc001tak.2_Missense_Mutation_p.Y206C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	UDP-N-acetylglucosamine: alpha-1,3-D-mannoside	206	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3														0.232653	151.370289	167.387989	57	188	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84898018	84898018	9937	12	T	C	C	49	49	MGAT4C	C	4	4
CLEC4D	338339	broad.mit.edu	36	12	8565029	8565029	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8565029C>A	uc001qun.1	+	c.543C>A	c.(541-543)AAC>AAA	p.N181K		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	181	C-type lectin.|Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)													0.40113	204.374457	205.891466	71	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8565029	8565029	3652	12	C	A	A	20	20	CLEC4D	A	3	3
CLEC4E	26253	broad.mit.edu	36	12	8581094	8581094	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8581094A>G	uc001quo.1	-	c.256T>C	c.(256-258)TAT>CAT	p.Y86H		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	86	Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)													0.215909	99.076719	112.165605	38	138	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8581094	8581094	3653	12	A	G	G	16	16	CLEC4E	G	4	4
AICDA	57379	broad.mit.edu	36	12	8649240	8649240	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8649240C>T	uc001qur.1	-	c.265G>A	c.(265-267)GAC>AAC	p.D89N	AICDA_uc001qup.1_Missense_Mutation_p.D84N|AICDA_uc001quq.1_Missense_Mutation_p.D84N|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	89					B cell differentiation|mRNA processing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			pancreas(1)	1	Lung SC(5;0.184)					GBM(62;896 1067 5527 26594 30137)								0.427481	153.170906	153.772901	56	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8649240	8649240	425	12	C	T	T	31	31	AICDA	T	1	1
C12orf50	160419	broad.mit.edu	36	12	86901058	86901058	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:86901058C>T	uc001tam.1	-	c.1172G>A	c.(1171-1173)CGA>CAA	p.R391Q		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	391										ovary(1)	1														0.35426	213.282487	217.447478	79	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86901058	86901058	1739	12	C	T	T	31	31	C12orf50	T	1	1
C12orf50	160419	broad.mit.edu	36	12	86912614	86912614	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:86912614A>G	uc001tam.1	-	c.519T>C	c.(517-519)TAT>TAC	p.Y173Y	C12orf50_uc001tan.2_Silent_p.Y227Y	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	173										ovary(1)	1														0.40625	288.697449	290.413548	91	133	AA		KEEP	---	---	---	---	capture			Silent	SNP	86912614	86912614	1739	12	A	G	G	8	8	C12orf50	G	4	4
C12orf50	160419	broad.mit.edu	36	12	86914504	86914504	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:86914504C>T	uc001tam.1	-	c.340G>A	c.(340-342)GCA>ACA	p.A114T	C12orf50_uc001tan.2_Missense_Mutation_p.A168T	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	114										ovary(1)	1														0.377622	150.498483	152.383555	54	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86914504	86914504	1739	12	C	T	T	28	28	C12orf50	T	2	2
CEP290	80184	broad.mit.edu	36	12	87046901	87046901	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:87046901C>T	uc001tar.1	-	c.895G>A	c.(895-897)GAT>AAT	p.D299N	CEP290_uc001tat.2_Missense_Mutation_p.D61N|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	299	Potential.				cell projection organization|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding|transcription activator activity			ovary(5)|breast(1)|pancreas(1)	7														0.15	10.722351	15.420992	6	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87046901	87046901	3386	12	C	T	T	32	32	CEP290	T	2	2
KITLG	4254	broad.mit.edu	36	12	87436681	87436681	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:87436681C>A	uc001tav.1	-	c.287G>T	c.(286-288)AGT>ATT	p.S96I	KITLG_uc009zsn.1_Missense_Mutation_p.S24I|KITLG_uc001taw.1_Missense_Mutation_p.S96I|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	96	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1														0.256637	134.852536	146.98475	58	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87436681	87436681	8642	12	C	A	A	20	20	KITLG	A	3	3
ATP2B1	490	broad.mit.edu	36	12	88509136	88509136	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:88509136G>A	uc001tbh.1	-	c.3419C>T	c.(3418-3420)TCG>TTG	p.S1140L	ATP2B1_uc009zsr.1_Non-coding_Transcript|ATP2B1_uc001tbf.1_Missense_Mutation_p.S774L|ATP2B1_uc001tbg.1_3'UTR	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	1178	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.380952	217.939957	220.553572	80	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88509136	88509136	1158	12	G	A	A	37	37	ATP2B1	A	1	1
ATP2B1	490	broad.mit.edu	36	12	88521728	88521728	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:88521728G>A	uc001tbh.1	-	c.2740C>T	c.(2740-2742)CGG>TGG	p.R914W	ATP2B1_uc001tbf.1_Missense_Mutation_p.R584W|ATP2B1_uc001tbg.1_Missense_Mutation_p.R914W	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	914	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.490196	288.078071	288.095424	100	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88521728	88521728	1158	12	G	A	A	37	37	ATP2B1	A	1	1
A2ML1	144568	broad.mit.edu	36	12	8896201	8896201	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8896201T>C	uc001quz.2	+	c.2590_splice	c.e20+2	p.G864_splice	A2ML1_uc001qva.1_Splice_Site_SNP_p.G444_splice	NM_144670	NP_653271			alpha-2-macroglobulin-like 1							extracellular space	endopeptidase inhibitor activity			ovary(2)	2														0.472131	493.936781	494.137225	144	161	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	8896201	8896201	6	12	T	C	C	57	57	A2ML1	C	5	4
PHC1	1911	broad.mit.edu	36	12	8961624	8961624	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8961624A>T	uc001qvd.1	+	c.84A>T	c.(82-84)CAA>CAT	p.Q28H	PHC1_uc001qvc.1_Missense_Mutation_p.Q28H|PHC1_uc001qve.1_Missense_Mutation_p.Q28H	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	28					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2														0.22449	22.498051	25.91794	11	38	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8961624	8961624	12239	12	A	T	T	1	1	PHC1	T	4	4
PHC1	1911	broad.mit.edu	36	12	8981121	8981121	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8981121C>T	uc001qvd.1	+	c.2560C>T	c.(2560-2562)CGC>TGC	p.R854C	PHC1_uc001qve.1_Missense_Mutation_p.R854C	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	854					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2														0.431373	55.744272	55.951982	22	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8981121	8981121	12239	12	C	T	T	31	31	PHC1	T	1	1
C12orf12	196477	broad.mit.edu	36	12	89871808	89871808	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:89871808C>A	uc001tbj.1	-	c.843G>T	c.(841-843)GAG>GAT	p.E281D		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	281	Potential.|Glu-rich.									central_nervous_system(1)|pancreas(1)	2														0.431611	737.693963	740.393274	284	374	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89871808	89871808	1720	12	C	A	A	32	32	C12orf12	A	3	3
EPYC	1833	broad.mit.edu	36	12	89896134	89896134	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:89896134C>A	uc001tbk.1	-	c.202G>T	c.(202-204)GAG>TAG	p.E68*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	68					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding				0												OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.149733	76.359586	120.373698	56	318	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	89896134	89896134	5394	12	C	A	A	32	32	EPYC	A	5	3
KERA	11081	broad.mit.edu	36	12	89973519	89973519	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:89973519G>A	uc001tbl.1	-	c.671C>T	c.(670-672)TCC>TTC	p.S224F		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan	224	LRR 7.				response to stimulus|visual perception	proteinaceous extracellular matrix					0														0.208481	125.156914	147.439992	59	224	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89973519	89973519	8449	12	G	A	A	41	41	KERA	A	2	2
RAD52	5893	broad.mit.edu	36	12	906605	906605	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:906605T>C	uc001qis.1	-	c.434A>G	c.(433-435)GAG>GGG	p.E145G	RAD52_uc001qit.1_5'UTR|RAD52_uc001qiu.1_Missense_Mutation_p.E145G|RAD52_uc001qiv.1_Non-coding_Transcript|RAD52_uc001qiw.1_Intron|RAD52_uc001qix.1_Missense_Mutation_p.E145G	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	145					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)													0.2	221.991262	259.297378	89	356	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		Missense_Mutation	SNP	906605	906605	13451	12	T	C	C	54	54	RAD52	C	4	4
A2M	2	broad.mit.edu	36	12	9118441	9118441	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9118441G>A	uc001qvk.1	-	c.3738C>T	c.(3736-3738)GGC>GGT	p.G1246G	A2M_uc001qvj.1_Silent_p.G288G|A2M_uc009zgk.1_Silent_p.G1096G	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1246					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.509804	73.546199	73.550424	26	25	GG		KEEP	---	---	---	---	capture			Silent	SNP	9118441	9118441	5	12	G	A	A	38	38	A2M	A	1	1
CLLU1OS	574016	broad.mit.edu	36	12	91340491	91340491	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:91340491G>A	uc001tcb.1	-	c.105C>T	c.(103-105)GGC>GGT	p.G35G	CLLU1_uc001tcc.1_Intron|CLLU1_uc001tcd.1_Intron|CLLU1_uc001tcf.1_5'Flank|CLLU1_uc009zst.1_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1	35											0														0.458333	118.278014	118.424211	44	52	GG		KEEP	---	---	---	---	capture			Silent	SNP	91340491	91340491	3679	12	G	A	A	42	42	CLLU1OS	A	2	2
A2M	2	broad.mit.edu	36	12	9145507	9145507	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9145507C>T	uc001qvk.1	-	c.1297G>A	c.(1297-1299)GGC>AGC	p.G433S	A2M_uc009zgk.1_Missense_Mutation_p.G283S	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	433					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.170732	25.201882	33.608856	14	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9145507	9145507	5	12	C	T	T	23	23	A2M	T	1	1
A2M	2	broad.mit.edu	36	12	9156052	9156052	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9156052C>T	uc001qvk.1	-	c.453G>A	c.(451-453)ATG>ATA	p.M151I	A2M_uc009zgk.1_Missense_Mutation_p.M1I	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	151					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.195652	57.93917	69.861438	27	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9156052	9156052	5	12	C	T	T	21	21	A2M	T	2	2
A2M	2	broad.mit.edu	36	12	9157253	9157253	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9157253C>A	uc001qvk.1	-	c.240G>T	c.(238-240)GAG>GAT	p.E80D	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	80					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.27459	147.68273	158.878934	67	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9157253	9157253	5	12	C	A	A	32	32	A2M	A	3	3
C12orf74	338809	broad.mit.edu	36	12	91624833	91624833	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:91624833C>T	uc001tch.1	+	c.295C>T	c.(295-297)CTG>TTG	p.L99L	C12orf74_uc001tci.2_Silent_p.L99L	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	99											0														0.174107	69.777357	92.242743	39	185	CC		KEEP	---	---	---	---	capture			Silent	SNP	91624833	91624833	1760	12	C	T	T	28	28	C12orf74	T	2	2
PLEKHG7	440107	broad.mit.edu	36	12	91686925	91686925	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:91686925G>A	uc001tcj.1	+	c.970G>A	c.(970-972)GAA>AAA	p.E324K		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	324	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1														0.243902	45.659665	50.561159	20	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91686925	91686925	12501	12	G	A	A	37	37	PLEKHG7	A	1	1
EEA1	8411	broad.mit.edu	36	12	91699892	91699892	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:91699892G>A	uc001tck.1	-	c.3301C>T	c.(3301-3303)CGA>TGA	p.R1101*		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1101	Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)	2														0.367123	347.521442	353.198915	134	231	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	91699892	91699892	5108	12	G	A	A	38	38	EEA1	A	5	1
EEA1	8411	broad.mit.edu	36	12	91782768	91782768	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:91782768G>T	uc001tck.1	-	c.244C>A	c.(244-246)CGA>AGA	p.R82R		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	82	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)	2														0.197368	69.675769	82.630631	30	122	GG		KEEP	---	---	---	---	capture			Silent	SNP	91782768	91782768	5108	12	G	T	T	38	38	EEA1	T	3	3
EEA1	8411	broad.mit.edu	36	12	91809550	91809550	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:91809550C>T	uc001tck.1	-	c.103G>A	c.(103-105)GAA>AAA	p.E35K		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	35					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)	2														0.396552	313.838804	316.561707	115	175	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91809550	91809550	5108	12	C	T	T	29	29	EEA1	T	2	2
PZP	5858	broad.mit.edu	36	12	9197144	9197144	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9197144C>A	uc001qvl.1	-	c.3837G>T	c.(3835-3837)GAG>GAT	p.E1279D	PZP_uc009zgl.1_Missense_Mutation_p.E1065D	NM_002864	NP_002855			pregnancy-zone protein											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.419192	221.269779	222.402692	83	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9197144	9197144	13327	12	C	A	A	32	32	PZP	A	3	3
PZP	5858	broad.mit.edu	36	12	9201206	9201206	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9201206G>A	uc001qvl.1	-	c.3382C>T	c.(3382-3384)CGC>TGC	p.R1128C	PZP_uc009zgl.1_Missense_Mutation_p.R914C	NM_002864	NP_002855			pregnancy-zone protein											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.173267	59.779881	80.193806	35	167	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9201206	9201206	13327	12	G	A	A	37	37	PZP	A	1	1
PZP	5858	broad.mit.edu	36	12	9247733	9247733	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9247733C>A	uc001qvl.1	-	c.165G>T	c.(163-165)GAG>GAT	p.E55D	PZP_uc009zgl.1_5'UTR	NM_002864	NP_002855			pregnancy-zone protein											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.46748	310.074821	310.303337	115	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9247733	9247733	13327	12	C	A	A	32	32	PZP	A	3	3
SOCS2	8835	broad.mit.edu	36	12	92492776	92492776	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:92492776G>A	uc001tcw.1	+	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	SOCS2_uc001tcx.1_Missense_Mutation_p.R96Q|SOCS2_uc009zsu.1_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.R96Q|SOCS2_uc001tcz.2_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	suppressor of cytokine signaling-2	96	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity				0														0.490446	221.359765	221.37238	77	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92492776	92492776	15414	12	G	A	A	37	37	SOCS2	A	1	1
PLXNC1	10154	broad.mit.edu	36	12	93145065	93145065	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:93145065C>A	uc001tdc.1	+	c.1903C>A	c.(1903-1905)CCA>ACA	p.P635T		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1	635	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3														0.491124	225.99403	226.006114	83	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93145065	93145065	12552	12	C	A	A	30	30	PLXNC1	A	3	3
CCDC41	51134	broad.mit.edu	36	12	93286085	93286085	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:93286085G>T	uc001tdd.1	-	c.1072C>A	c.(1072-1074)CTC>ATC	p.L358I	CCDC41_uc001tde.1_Missense_Mutation_p.L358I|CCDC41_uc009zsw.1_Non-coding_Transcript	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	350	Potential.										0														0.22	44.688588	51.916197	22	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93286085	93286085	2935	12	G	T	T	33	33	CCDC41	T	3	3
CCDC41	51134	broad.mit.edu	36	12	93318851	93318851	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:93318851C>T	uc001tdd.1	-	c.455G>A	c.(454-456)CGC>CAC	p.R152H	CCDC41_uc001tde.1_Missense_Mutation_p.R152H|CCDC41_uc009zsw.1_Non-coding_Transcript|CCDC41_uc001tdf.2_Missense_Mutation_p.R152H	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	144	Potential.										0														0.391304	243.88702	246.270181	90	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93318851	93318851	2935	12	C	T	T	27	27	CCDC41	T	1	1
TMCC3	57458	broad.mit.edu	36	12	93489641	93489641	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:93489641C>T	uc001tdj.2	-	c.1135G>A	c.(1135-1137)GCC>ACC	p.A379T	TMCC3_uc001tdi.2_Missense_Mutation_p.A348T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	379	Potential.					integral to membrane				ovary(1)	1														0.224	67.258203	75.993729	28	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93489641	93489641	16524	12	C	T	T	28	28	TMCC3	T	2	2
TMCC3	57458	broad.mit.edu	36	12	93496429	93496429	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:93496429G>A	uc001tdj.2	-	c.1003C>T	c.(1003-1005)CGA>TGA	p.R335*	TMCC3_uc001tdi.2_Nonsense_Mutation_p.R304*	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	335	Potential.					integral to membrane				ovary(1)	1														0.5	78.461617	78.461617	30	30	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93496429	93496429	16524	12	G	A	A	38	38	TMCC3	A	5	1
NR2C1	7181	broad.mit.edu	36	12	93976382	93976382	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:93976382C>T	uc001tdm.2	-	c.379G>A	c.(379-381)GCA>ACA	p.A127T	NR2C1_uc001tdn.2_Missense_Mutation_p.A127T|NR2C1_uc001tdo.2_Missense_Mutation_p.A127T	NM_003297	NP_003288	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	127	Nuclear receptor.|Required for interaction with KAT2B (By similarity).|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1														0.422078	199.547046	200.363621	65	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93976382	93976382	11027	12	C	T	T	28	28	NR2C1	T	2	2
FGD6	55785	broad.mit.edu	36	12	94127333	94127333	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94127333C>T	uc001tdp.2	-	c.1858G>A	c.(1858-1860)GAC>AAC	p.D620N	FGD6_uc009zsx.1_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	620					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3														0.213808	204.539042	238.653226	96	353	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94127333	94127333	6074	12	C	T	T	32	32	FGD6	T	2	2
FGD6	55785	broad.mit.edu	36	12	94128403	94128403	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94128403C>T	uc001tdp.2	-	c.788G>A	c.(787-789)AGC>AAC	p.S263N	FGD6_uc009zsx.1_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	263					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3														0.245791	172.036505	189.510728	73	224	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94128403	94128403	6074	12	C	T	T	28	28	FGD6	T	2	2
USP44	84101	broad.mit.edu	36	12	94451811	94451811	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94451811C>A	uc001teg.1	-	c.353G>T	c.(352-354)AGG>ATG	p.R118M	USP44_uc009zte.1_Missense_Mutation_p.R115M|USP44_uc001teh.1_Missense_Mutation_p.R118M	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	ubiquitin specific protease 44	118					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1														0.231959	94.660444	107.441637	45	149	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94451811	94451811	17639	12	C	A	A	24	24	USP44	A	3	3
CCDC38	120935	broad.mit.edu	36	12	94824357	94824357	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94824357G>T	uc001tek.1	-	c.308C>A	c.(307-309)TCC>TAC	p.S103Y		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	103											0														0.338462	107.541087	110.549864	44	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94824357	94824357	2932	12	G	T	T	41	41	CCDC38	T	3	3
CCDC38	120935	broad.mit.edu	36	12	94836811	94836811	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94836811C>T	uc001tek.1	-	c.112G>A	c.(112-114)GAA>AAA	p.E38K		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	38											0														0.205479	101.043854	118.6688	45	174	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94836811	94836811	2932	12	C	T	T	32	32	CCDC38	T	2	2
AMDHD1	144193	broad.mit.edu	36	12	94874712	94874712	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94874712A>G	uc001tel.1	+	c.428A>G	c.(427-429)CAG>CGG	p.Q143R	AMDHD1_uc009zth.1_Missense_Mutation_p.Q34R	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	143					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)	1														0.451429	222.099176	222.457437	79	96	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94874712	94874712	570	12	A	G	G	7	7	AMDHD1	G	4	4
HAL	3034	broad.mit.edu	36	12	94894391	94894391	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94894391G>A	uc001tem.1	-	c.1780C>T	c.(1780-1782)CGC>TGC	p.R594C	HAL_uc009zti.1_Non-coding_Transcript	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	594					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)	2					L-Histidine(DB00117)	NSCLC(169;943 2815 23563 30031)								0.406926	254.788753	256.541502	94	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94894391	94894391	7229	12	G	A	A	37	37	HAL	A	1	1
HAL	3034	broad.mit.edu	36	12	94895869	94895869	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94895869G>A	uc001tem.1	-	c.1638C>T	c.(1636-1638)ATC>ATT	p.I546I	HAL_uc009zti.1_Non-coding_Transcript	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	546					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)	2					L-Histidine(DB00117)	NSCLC(169;943 2815 23563 30031)								0.24183	81.535969	90.9047	37	116	GG		KEEP	---	---	---	---	capture			Silent	SNP	94895869	94895869	7229	12	G	A	A	37	37	HAL	A	1	1
HAL	3034	broad.mit.edu	36	12	94908302	94908302	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94908302G>A	uc001tem.1	-	c.855C>T	c.(853-855)TAC>TAT	p.Y285Y	HAL_uc009zti.1_Non-coding_Transcript	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	285					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)	2					L-Histidine(DB00117)	NSCLC(169;943 2815 23563 30031)								0.489362	194.666029	194.679809	69	72	GG		KEEP	---	---	---	---	capture			Silent	SNP	94908302	94908302	7229	12	G	A	A	40	40	HAL	A	1	1
LTA4H	4048	broad.mit.edu	36	12	94953340	94953340	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94953340A>C	uc001ten.1	-	c.89T>G	c.(88-90)TTT>TGT	p.F30C		NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	30					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1														0.357143	31.144585	31.646876	10	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94953340	94953340	9445	12	A	C	C	1	1	LTA4H	C	4	4
TMPO	7112	broad.mit.edu	36	12	97465727	97465727	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:97465727T>A	uc001tfj.1	+	c.1325T>A	c.(1324-1326)TTC>TAC	p.F442Y	TMPO_uc001tfk.1_Missense_Mutation_p.F333Y|TMPO_uc001tfl.2_Non-coding_Transcript	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	442	Lumenal (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2										621				0.19943	130.153423	159.663834	70	281	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97465727	97465727	16777	12	T	A	A	62	62	TMPO	A	4	4
SLC25A3	5250	broad.mit.edu	36	12	97516490	97516490	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:97516490C>A	uc001tfo.1	+	c.522C>A	c.(520-522)TTC>TTA	p.F174L	SLC25A3_uc001tfm.1_Missense_Mutation_p.F173L|SLC25A3_uc001tfs.1_Missense_Mutation_p.F130L|SLC25A3_uc009ztn.1_Missense_Mutation_p.F173L|SLC25A3_uc001tfn.1_Missense_Mutation_p.F173L|SLC25A3_uc001tfp.1_Missense_Mutation_p.F173L|SLC25A3_uc001tfq.1_Missense_Mutation_p.F43L|SLC25A3_uc001tfr.1_Missense_Mutation_p.F174L|SLC25A3_uc001tft.1_Missense_Mutation_p.F173L|SNORA53_uc001tfu.1_5'Flank	NM_005888	NP_005879	Q00325	MPCP_HUMAN	solute carrier family 25 member 3 isoform a	174	Solcar 2.|Helical; Name=3; (Potential).				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity				0		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)												0.213873	71.365331	84.463605	37	136	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	Missense_Mutation	SNP	97516490	97516490	14990	12	C	A	A	32	32	SLC25A3	A	3	3
IKBIP	121457	broad.mit.edu	36	12	97532011	97532011	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:97532011A>G	uc001tfv.1	-	c.536T>C	c.(535-537)ATA>ACA	p.I179T	IKBIP_uc001tfw.1_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	IKK interacting protein isoform 2	179					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding				0														0.422619	236.820201	237.692106	71	97	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97532011	97532011	7910	12	A	G	G	16	16	IKBIP	G	4	4
ANKS1B	56899	broad.mit.edu	36	12	98164560	98164560	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:98164560G>A	uc001tge.1	-	c.1970C>T	c.(1969-1971)TCA>TTA	p.S657L	ANKS1B_uc001tgf.1_Missense_Mutation_p.S237L|ANKS1B_uc009ztt.1_Missense_Mutation_p.S623L|ANKS1B_uc001tgk.1_5'UTR	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	657						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)												0.469027	149.961472	150.05588	53	60	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	Missense_Mutation	SNP	98164560	98164560	697	12	G	A	A	45	45	ANKS1B	A	2	2
FAM71C	196472	broad.mit.edu	36	12	98566095	98566095	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:98566095C>T	uc001tgn.1	+	c.12C>T	c.(10-12)TGC>TGT	p.C4C	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	4											0														0.207207	48.163153	56.982436	23	88	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	Silent	SNP	98566095	98566095	5832	12	C	T	T	28	28	FAM71C	T	2	2
FAM71C	196472	broad.mit.edu	36	12	98566276	98566276	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:98566276C>T	uc001tgn.1	+	c.193C>T	c.(193-195)CGT>TGT	p.R65C	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	65											0														0.276596	132.219864	140.667458	52	136	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	Missense_Mutation	SNP	98566276	98566276	5832	12	C	T	T	23	23	FAM71C	T	1	1
KLRF1	51348	broad.mit.edu	36	12	9877295	9877295	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9877295C>T	uc009zgv.1	+	c.314C>T	c.(313-315)TCG>TTG	p.S105L	KLRF1_uc009zgw.1_Intron|KLRF1_uc009zgx.1_Non-coding_Transcript|KLRF1_uc001qwm.1_Non-coding_Transcript|KLRF1_uc009zgy.1_Intron|KLRF1_uc009zgz.1_Missense_Mutation_p.S105L|KLRF1_uc009zha.1_Intron	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F,	105	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			large_intestine(1)	1														0.129464	35.333545	65.267175	29	195	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9877295	9877295	8734	12	C	T	T	31	31	KLRF1	T	1	1
UHRF1BP1L	23074	broad.mit.edu	36	12	98976307	98976307	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:98976307C>T	uc001tgq.1	-	c.2879G>A	c.(2878-2880)GGC>GAC	p.G960D	UHRF1BP1L_uc001tgp.1_Missense_Mutation_p.G610D	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	960										ovary(1)	1														0.18125	54.78736	70.060647	29	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98976307	98976307	17527	12	C	T	T	26	26	UHRF1BP1L	T	2	2
UHRF1BP1L	23074	broad.mit.edu	36	12	98990614	98990614	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:98990614C>A	uc001tgq.1	-	c.1516G>T	c.(1516-1518)GAA>TAA	p.E506*	UHRF1BP1L_uc001tgp.1_Nonsense_Mutation_p.E156*|UHRF1BP1L_uc001tgr.1_Nonsense_Mutation_p.E506*	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	506										ovary(1)	1														0.224066	106.591	123.491261	54	187	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	98990614	98990614	17527	12	C	A	A	32	32	UHRF1BP1L	A	5	3
SCYL2	55681	broad.mit.edu	36	12	99244554	99244554	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:99244554C>A	uc001thn.1	+	c.1533C>A	c.(1531-1533)TGC>TGA	p.C511*	SCYL2_uc009ztw.1_Nonsense_Mutation_p.C338*|SCYL2_uc001thm.1_Nonsense_Mutation_p.C511*	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	511					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of receptor internalization|protein phosphorylation	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6										647				0.11413	17.03723	44.066848	21	163	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	99244554	99244554	14433	12	C	A	A	28	28	SCYL2	A	5	3
ANO4	121601	broad.mit.edu	36	12	99860340	99860340	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:99860340C>T	uc001thx.1	+	c.352C>T	c.(352-354)CGA>TGA	p.R118*	ANO4_uc001thw.1_Nonsense_Mutation_p.R83*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	118	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)	4														0.418367	345.198115	346.90061	123	171	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	99860340	99860340	707	12	C	T	T	31	31	ANO4	T	5	1
NALCN	259232	broad.mit.edu	36	13	100515878	100515878	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:100515878G>A	uc001vox.1	-	c.4483C>T	c.(4483-4485)CGG>TGG	p.R1495W		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1495	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.246032	67.455267	74.862852	31	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100515878	100515878	10544	13	G	A	A	38	38	NALCN	A	1	1
FGF14	2259	broad.mit.edu	36	13	101325591	101325591	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:101325591G>A	uc001vpf.2	-	c.265C>T	c.(265-267)CAA>TAA	p.Q89*	FGF14_uc001vpe.2_Nonsense_Mutation_p.Q84*	NM_175929	NP_787125	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1B	84					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			large_intestine(1)|ovary(1)	2	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.297521	82.95872	87.391708	36	85	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	101325591	101325591	6080	13	G	A	A	46	46	FGF14	A	5	2
C13orf39	196541	broad.mit.edu	36	13	102141232	102141232	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:102141232G>A	uc001vpj.1	-	c.214C>T	c.(214-216)CGG>TGG	p.R72W	C13orf39_uc001vpk.1_Missense_Mutation_p.R72W	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	hypothetical protein LOC196541	72							methyltransferase activity				0														0.26506	104.032269	112.30988	44	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102141232	102141232	1780	13	G	A	A	37	37	C13orf39	A	1	1
KDELC1	79070	broad.mit.edu	36	13	102247318	102247318	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:102247318G>T	uc001vpq.2	-	c.225C>A	c.(223-225)GTC>GTA	p.V75V	KDELC1_uc001vpr.2_5'UTR|BIVM_uc010agc.1_5'Flank|BIVM_uc001vps.1_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	75	Filamin.					endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)													0.238342	96.538713	108.621901	46	147	GG		KEEP	---	---	---	---	capture			Silent	SNP	102247318	102247318	8423	13	G	T	T	33	33	KDELC1	T	3	3
SLC10A2	6555	broad.mit.edu	36	13	102516460	102516460	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:102516460G>T	uc001vpy.2	-	c.141C>A	c.(139-141)TTC>TTA	p.F47L		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	47	Helical; (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)	3	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)													0.535	296.503718	296.714577	107	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102516460	102516460	14869	13	G	T	T	33	33	SLC10A2	T	3	3
LIG4	3981	broad.mit.edu	36	13	107659879	107659879	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:107659879C>T	uc001vqn.1	-	c.1739G>A	c.(1738-1740)CGA>CAA	p.R580Q	LIG4_uc001vqo.1_Missense_Mutation_p.R580Q|LIG4_uc010agf.1_Missense_Mutation_p.R580Q|LIG4_uc001vqp.1_Missense_Mutation_p.R580Q|LIG4_uc010agg.1_Missense_Mutation_p.R513Q|LIG4_uc010agh.1_Missense_Mutation_p.R580Q	NM_002312	NP_996820	P49917	DNLI4_HUMAN	DNA ligase IV	580					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)													0.328467	111.105559	114.691702	45	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107659879	107659879	9109	13	C	T	T	31	31	LIG4	T	1	1
LIG4	3981	broad.mit.edu	36	13	107660740	107660740	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:107660740C>T	uc001vqn.1	-	c.878G>A	c.(877-879)CGA>CAA	p.R293Q	LIG4_uc001vqo.1_Missense_Mutation_p.R293Q|LIG4_uc010agf.1_Missense_Mutation_p.R293Q|LIG4_uc001vqp.1_Missense_Mutation_p.R293Q|LIG4_uc010agg.1_Missense_Mutation_p.R226Q|LIG4_uc010agh.1_Missense_Mutation_p.R293Q	NM_002312	NP_996820	P49917	DNLI4_HUMAN	DNA ligase IV	293		ATP (By similarity).			cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)													0.519231	238.97372	239.023807	81	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107660740	107660740	9109	13	C	T	T	31	31	LIG4	T	1	1
MYO16	23026	broad.mit.edu	36	13	108116490	108116490	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:108116490A>G	uc010agk.1	+	c.284A>G	c.(283-285)GAC>GGC	p.D95G	MYO16_uc001vqt.1_Missense_Mutation_p.D73G	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	73	ANK 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)													0.25641	27.934794	30.030834	10	29	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		Missense_Mutation	SNP	108116490	108116490	10459	13	A	G	G	10	10	MYO16	G	4	4
MYO16	23026	broad.mit.edu	36	13	108177795	108177795	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:108177795C>A	uc010agk.1	+	c.370C>A	c.(370-372)CGG>AGG	p.R124R	MYO16_uc001vqt.1_Silent_p.R102R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	102	ANK 2.				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(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)													0.181818	54.743365	70.447926	30	135	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		Silent	SNP	108177795	108177795	10459	13	C	A	A	31	31	MYO16	A	3	3
MYO16	23026	broad.mit.edu	36	13	108273515	108273515	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:108273515G>A	uc010agk.1	+	c.985G>A	c.(985-987)GCC>ACC	p.A329T	MYO16_uc001vqt.1_Missense_Mutation_p.A307T|MYO16_uc001vqu.1_Missense_Mutation_p.A107T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	307					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(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)													0.579365	463.573901	464.956174	146	106	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		Missense_Mutation	SNP	108273515	108273515	10459	13	G	A	A	34	34	MYO16	A	2	2
COL4A1	1282	broad.mit.edu	36	13	109636747	109636747	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:109636747G>A	uc001vqw.2	-	c.1883C>T	c.(1882-1884)TCC>TTC	p.S628F	COL4A1_uc010agl.1_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	628	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)												0.230978	182.5134	207.006021	85	283	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		Missense_Mutation	SNP	109636747	109636747	3827	13	G	A	A	41	41	COL4A1	A	2	2
COL4A1	1282	broad.mit.edu	36	13	109637602	109637602	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:109637602G>A	uc001vqw.2	-	c.1612C>T	c.(1612-1614)CGG>TGG	p.R538W	COL4A1_uc010agl.1_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	538	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)												0.278571	88.957038	95.138178	39	101	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		Missense_Mutation	SNP	109637602	109637602	3827	13	G	A	A	38	38	COL4A1	A	1	1
COL4A2	1284	broad.mit.edu	36	13	109884791	109884791	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:109884791G>A	uc001vqx.1	+	c.726_splice	c.e12+1	p.K242_splice		NM_001846	NP_001837			alpha 2 type IV collagen preproprotein						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	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)												0.282443	92.415539	97.988782	37	94	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		Splice_Site_SNP	SNP	109884791	109884791	3828	13	G	A	A	44	44	COL4A2	A	5	2
COL4A2	1284	broad.mit.edu	36	13	109962351	109962351	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:109962351C>T	uc001vqx.1	+	c.4951C>T	c.(4951-4953)CGC>TGC	p.R1651C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1651	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	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)												0.284916	133.967551	141.390628	51	128	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		Missense_Mutation	SNP	109962351	109962351	3828	13	C	T	T	23	23	COL4A2	T	1	1
CARS2	79587	broad.mit.edu	36	13	110096344	110096344	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:110096344C>T	uc001vrd.1	-	c.1288G>A	c.(1288-1290)GGG>AGG	p.G430R		NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2	430					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)				L-Cysteine(DB00151)									0.231579	106.703062	119.243394	44	146	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.163)		Missense_Mutation	SNP	110096344	110096344	2777	13	C	T	T	23	23	CARS2	T	1	1
CARS2	79587	broad.mit.edu	36	13	110113843	110113843	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:110113843C>A	uc001vrd.1	-	c.943G>T	c.(943-945)GAA>TAA	p.E315*		NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2	315					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)				L-Cysteine(DB00151)									0.380952	61.878832	62.663916	24	39	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.163)		Nonsense_Mutation	SNP	110113843	110113843	2777	13	C	A	A	32	32	CARS2	A	5	3
ING1	3621	broad.mit.edu	36	13	110169779	110169779	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:110169779C>T	uc001vri.1	+	c.768C>T	c.(766-768)TTC>TTT	p.F256F	ING1_uc001vrf.1_Silent_p.F69F|ING1_uc001vrg.1_Silent_p.F44F|ING1_uc001vrh.1_Silent_p.F113F|ING1_uc010agm.1_Silent_p.F44F	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	256					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)								p.F256F(CW2-Tumor)	145				0.309859	55.034883	57.315768	22	49	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.188)		Silent	SNP	110169779	110169779	8036	13	C	T	T	31	31	ING1	T	1	1
ARHGEF7	8874	broad.mit.edu	36	13	110733664	110733664	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:110733664C>T	uc001vrs.2	+	c.1966C>T	c.(1966-1968)CGG>TGG	p.R656W	ARHGEF7_uc001vrr.2_Missense_Mutation_p.R635W|ARHGEF7_uc001vrt.2_Missense_Mutation_p.R606W|ARHGEF7_uc001vru.1_Missense_Mutation_p.R478W|ARHGEF7_uc001vrv.2_Missense_Mutation_p.R478W|ARHGEF7_uc001vrw.2_Missense_Mutation_p.R478W|ARHGEF7_uc001vrx.2_Missense_Mutation_p.R478W|ARHGEF7_uc001vry.1_Missense_Mutation_p.R72W	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	656					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)								p.R656W(HEC1A-Tumor)	707				0.230769	6.318236	7.182034	3	10	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.188)		Missense_Mutation	SNP	110733664	110733664	926	13	C	T	T	27	27	ARHGEF7	T	1	1
C13orf16	121793	broad.mit.edu	36	13	110771267	110771267	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:110771267C>T	uc001vsa.1	+	c.29C>T	c.(28-30)TCT>TTT	p.S10F		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	hypothetical protein LOC121793	10	Extracellular (Potential).					integral to membrane					0	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)													0.333333	116.833367	119.85956	41	82	CC		KEEP	---	---	---	---	capture	all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)		Missense_Mutation	SNP	110771267	110771267	1766	13	C	T	T	32	32	C13orf16	T	2	2
C13orf16	121793	broad.mit.edu	36	13	110790248	110790248	+	Silent	SNP	C	T	T	rs35344026	by-frequency,by-1000genomes	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:110790248C>T	uc001vsa.1	+	c.207C>T	c.(205-207)ATC>ATT	p.I69I		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	hypothetical protein LOC121793	69	Helical; (Potential).					integral to membrane					0	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)													0.287273	192.606654	203.773302	79	196	CC		KEEP	---	---	---	---	capture	all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)		Silent	SNP	110790248	110790248	1766	13	C	T	T	31	31	C13orf16	T	1	1
C13orf28	122258	broad.mit.edu	36	13	112103471	112103471	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:112103471C>T	uc001vsd.1	+	c.437C>T	c.(436-438)TCC>TTC	p.S146F		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258	146						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)													0.52381	230.853515	230.924608	77	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112103471	112103471	1771	13	C	T	T	30	30	C13orf28	T	2	2
ATP11A	23250	broad.mit.edu	36	13	112553362	112553362	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:112553362G>A	uc001vsj.2	+	c.1820G>A	c.(1819-1821)CGA>CAA	p.R607Q	ATP11A_uc001vsi.2_Missense_Mutation_p.R607Q|ATP11A_uc001vsm.1_Missense_Mutation_p.R483Q|ATP11A_uc010ago.1_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform b	607	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			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)								1064				0.287805	141.637253	149.921122	59	146	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112553362	112553362	1138	13	G	A	A	37	37	ATP11A	A	1	1
ATP11A	23250	broad.mit.edu	36	13	112584345	112584345	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:112584345G>A	uc001vsj.2	+	c.3542G>A	c.(3541-3543)AGC>AAC	p.S1181N	ATP11A_uc001vsi.2_3'UTR|ATP11A_uc010ago.1_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform b	Error:Variant_position_missing_in_P98196_after_alignment					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			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)								1064				0.300546	137.627864	144.148678	55	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112584345	112584345	1138	13	G	A	A	34	34	ATP11A	A	2	2
F7	2155	broad.mit.edu	36	13	112818061	112818061	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:112818061C>T	uc001vsv.1	+	c.517C>T	c.(517-519)CGG>TGG	p.R173W	F7_uc010agp.1_Missense_Mutation_p.R166W|F7_uc001vsw.1_Missense_Mutation_p.R151W	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	173	EGF-like 2.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)			Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)									0.157895	14.33705	20.700792	9	48	CC		KEEP	---	---	---	---	capture	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Missense_Mutation	SNP	112818061	112818061	5543	13	C	T	T	31	31	F7	T	1	1
F10	2159	broad.mit.edu	36	13	112831906	112831906	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:112831906C>A	uc001vsx.1	+	c.210C>A	c.(208-210)GTC>GTA	p.V70V	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.1_Silent_p.V70V|F10_uc001vsz.1_Silent_p.V70V	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	70	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|intrinsic to external side of plasma membrane	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)			Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.348387	127.496862	130.643635	54	101	CC		KEEP	---	---	---	---	capture	all cancers(43;0.0805)|Epithelial(84;0.231)		Silent	SNP	112831906	112831906	5530	13	C	A	A	32	32	F10	A	3	3
ADPRHL1	113622	broad.mit.edu	36	13	113155565	113155565	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:113155565G>A	uc001vtq.1	-	c.189C>T	c.(187-189)ATC>ATT	p.I63I		NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	63					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				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;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)												0.29703	70.969016	74.656922	30	71	GG		KEEP	---	---	---	---	capture	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		Silent	SNP	113155565	113155565	333	13	G	A	A	37	37	ADPRHL1	A	1	1
DCUN1D2	55208	broad.mit.edu	36	13	113160396	113160396	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:113160396A>G	uc001vtr.1	-	c.729T>C	c.(727-729)TTT>TTC	p.F243F	DCUN1D2_uc001vts.1_Non-coding_Transcript|DCUN1D2_uc010agw.1_Silent_p.F110F	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain	243	DCUN1.										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;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)										OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.293522	430.886361	449.738543	145	349	AA		KEEP	---	---	---	---	capture	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		Silent	SNP	113160396	113160396	4485	13	A	G	G	5	5	DCUN1D2	G	4	4
DCUN1D2	55208	broad.mit.edu	36	13	113186203	113186203	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:113186203T>C	uc001vtr.1	-	c.173A>G	c.(172-174)AAC>AGC	p.N58S	DCUN1D2_uc001vts.1_Non-coding_Transcript|DCUN1D2_uc010agw.1_Intron	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain	58											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;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)												0.219048	176.137871	199.035336	69	246	TT		KEEP	---	---	---	---	capture	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		Missense_Mutation	SNP	113186203	113186203	4485	13	T	C	C	60	60	DCUN1D2	C	4	4
GRK1	6011	broad.mit.edu	36	13	113373845	113373845	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:113373845C>T	uc001vua.1	+	c.858C>T	c.(856-858)AAC>AAT	p.N286N		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase	286	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)								178				0.214286	29.981488	35.265166	15	55	CC		KEEP	---	---	---	---	capture	all cancers(43;0.234)		Silent	SNP	113373845	113373845	7069	13	C	T	T	18	18	GRK1	T	2	2
GAS6	2621	broad.mit.edu	36	13	113571139	113571139	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:113571139G>A	uc001vud.1	+	c.363G>A	c.(361-363)ACG>ACA	p.T121T		NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	121	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth|signal transduction	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)												0.32618	180.416257	186.613037	76	157	GG		KEEP	---	---	---	---	capture			Silent	SNP	113571139	113571139	6513	13	G	A	A	38	38	GAS6	A	1	1
FAM70B	348013	broad.mit.edu	36	13	113644856	113644856	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:113644856C>A	uc001vuh.1	-	c.47_splice	c.e2-1	p.E16_splice		NM_182614	NP_872420			family with sequence similarity 70, member B							integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)												0.30814	125.392685	131.046929	53	119	CC		KEEP	---	---	---	---	capture	all cancers(43;0.181)		Splice_Site_SNP	SNP	113644856	113644856	5829	13	C	A	A	32	32	FAM70B	A	5	3
RASA3	22821	broad.mit.edu	36	13	113784443	113784443	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:113784443G>A	uc001vui.1	-	c.1810C>T	c.(1810-1812)CGC>TGC	p.R604C	RASA3_uc001vuj.1_Missense_Mutation_p.R221C	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	604	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(1)|skin(1)	2	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)								4289				0.313869	103.992757	108.207792	43	94	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.128)		Missense_Mutation	SNP	113784443	113784443	13522	13	G	A	A	37	37	RASA3	A	1	1
UPF3A	65110	broad.mit.edu	36	13	114075217	114075217	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:114075217C>T	uc001vup.1	+	c.694C>T	c.(694-696)CGA>TGA	p.R232*	UPF3A_uc001vuq.1_Nonsense_Mutation_p.R199*|UPF3A_uc001vur.1_Non-coding_Transcript|UPF3A_uc001vus.1_Non-coding_Transcript|UPF3A_uc001vut.1_Nonsense_Mutation_p.R31*|UPF3A_uc001vuu.1_5'UTR	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	232					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)												0.373626	272.663232	276.497763	102	171	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	Nonsense_Mutation	SNP	114075217	114075217	17565	13	C	T	T	31	31	UPF3A	T	5	1
ZNF828	283489	broad.mit.edu	36	13	114107425	114107425	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:114107425A>C	uc001vuv.1	+	c.6A>C	c.(4-6)GAA>GAC	p.E2D	ZNF828_uc010ahb.1_Missense_Mutation_p.E2D	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	zinc finger protein 828	2					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)												0.172269	86.523015	110.678916	41	197	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	Missense_Mutation	SNP	114107425	114107425	18780	13	A	C	C	3	3	ZNF828	C	4	4
TPTE2	93492	broad.mit.edu	36	13	18922238	18922238	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:18922238C>T	uc001umd.1	-	c.951G>A	c.(949-951)GCG>GCA	p.A317A	TPTE2_uc001ume.1_Silent_p.A240A|TPTE2_uc009zzl.1_Silent_p.A206A|TPTE2_uc009zzm.1_Intron|TPTE2_uc009zzk.1_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	317	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)												0.253521	84.633702	92.464954	36	106	CC		KEEP	---	---	---	---	capture		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	Silent	SNP	18922238	18922238	16975	13	C	T	T	31	31	TPTE2	T	1	1
TPTE2	93492	broad.mit.edu	36	13	18923334	18923334	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:18923334C>T	uc001umd.1	-	c.773G>A	c.(772-774)CGA>CAA	p.R258Q	TPTE2_uc001ume.1_Missense_Mutation_p.R181Q|TPTE2_uc009zzl.1_Missense_Mutation_p.R147Q|TPTE2_uc009zzm.1_Intron|TPTE2_uc009zzk.1_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	258	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)												0.226027	73.013848	83.068226	33	113	CC		KEEP	---	---	---	---	capture		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	Missense_Mutation	SNP	18923334	18923334	16975	13	C	T	T	31	31	TPTE2	T	1	1
TPTE2	93492	broad.mit.edu	36	13	18946055	18946055	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:18946055C>A	uc001umd.1	-	c.391G>T	c.(391-393)GGG>TGG	p.G131W	TPTE2_uc001ume.1_Nonsense_Mutation_p.G94*|TPTE2_uc009zzl.1_Intron|TPTE2_uc009zzm.1_De_novo_Start_InFrame|TPTE2_uc009zzk.1_Intron	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	131	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)												0.662162	148.889944	150.608938	49	25	CC		KEEP	---	---	---	---	capture		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	Missense_Mutation	SNP	18946055	18946055	16975	13	C	A	A	24	24	TPTE2	A	3	3
MPHOSPH8	54737	broad.mit.edu	36	13	19118949	19118949	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:19118949C>T	uc001umg.2	+	c.736C>T	c.(736-738)CCC>TCC	p.P246S	MPHOSPH8_uc001umh.1_Missense_Mutation_p.P246S|MPHOSPH8_uc001umf.1_Missense_Mutation_p.P246S|MPHOSPH8_uc001umi.2_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	246	Lys-rich.				cell cycle|chromatin assembly or disassembly	chromatin|cytoplasm|nucleus	chromatin binding				0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)												0.25	50.000163	55.006207	22	66	CC		KEEP	---	---	---	---	capture		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	Missense_Mutation	SNP	19118949	19118949	10119	13	C	T	T	30	30	MPHOSPH8	T	2	2
PSPC1	55269	broad.mit.edu	36	13	19177902	19177902	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:19177902C>A	uc001uml.1	-	c.1286G>T	c.(1285-1287)AGA>ATA	p.R429I	PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	429	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)												0.308458	146.554717	153.139623	62	139	CC		KEEP	---	---	---	---	capture		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	Missense_Mutation	SNP	19177902	19177902	13170	13	C	A	A	32	32	PSPC1	A	3	3
PSPC1	55269	broad.mit.edu	36	13	19181736	19181736	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:19181736C>A	uc001uml.1	-	c.1162G>T	c.(1162-1164)GAA>TAA	p.E388*	PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)												0.523605	342.521411	342.632253	122	111	CC		KEEP	---	---	---	---	capture		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	Nonsense_Mutation	SNP	19181736	19181736	13170	13	C	A	A	32	32	PSPC1	A	5	3
ZMYM2	7750	broad.mit.edu	36	13	19465324	19465324	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:19465324C>T	uc001umr.1	+	c.112C>T	c.(112-114)CCA>TCA	p.P38S	ZMYM2_uc001ums.1_Missense_Mutation_p.P38S|ZMYM2_uc001umt.1_Missense_Mutation_p.P38S|ZMYM2_uc001umq.2_Missense_Mutation_p.P38S|ZMYM2_uc009zzn.1_Missense_Mutation_p.P38S	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			ovary(2)	2		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)								348				0.308411	175.883785	182.877493	66	148	CC		KEEP	---	---	---	---	capture		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	Missense_Mutation	SNP	19465324	19465324	18291	13	C	T	T	30	30	ZMYM2	T	2	2
ZMYM2	7750	broad.mit.edu	36	13	19465402	19465402	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:19465402G>A	uc001umr.1	+	c.190G>A	c.(190-192)GAA>AAA	p.E64K	ZMYM2_uc001ums.1_Missense_Mutation_p.E64K|ZMYM2_uc001umt.1_Missense_Mutation_p.E64K|ZMYM2_uc001umq.2_Missense_Mutation_p.E64K|ZMYM2_uc009zzn.1_Missense_Mutation_p.E64K	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			ovary(2)	2		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)								348				0.591837	170.353944	171.073991	58	40	GG		KEEP	---	---	---	---	capture		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	Missense_Mutation	SNP	19465402	19465402	18291	13	G	A	A	37	37	ZMYM2	A	1	1
ZMYM2	7750	broad.mit.edu	36	13	19506468	19506468	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:19506468C>T	uc001umr.1	+	c.2043C>T	c.(2041-2043)TGC>TGT	p.C681C	ZMYM2_uc001ums.1_Silent_p.C681C|ZMYM2_uc001umt.1_Silent_p.C681C|ZMYM2_uc001umv.1_Silent_p.C61C|ZMYM2_uc001umw.1_Silent_p.C134C	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	681	MYM-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			ovary(2)	2		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)								348				0.263441	112.780684	122.201727	49	137	CC		KEEP	---	---	---	---	capture		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	Silent	SNP	19506468	19506468	18291	13	C	T	T	27	27	ZMYM2	T	1	1
GJB6	10804	broad.mit.edu	36	13	19695017	19695017	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:19695017A>C	uc001umz.2	-	c.603T>G	c.(601-603)ATT>ATG	p.I201M	GJB6_uc001unc.2_Missense_Mutation_p.I201M|GJB6_uc001una.2_Missense_Mutation_p.I201M|GJB6_uc001und.2_Missense_Mutation_p.I201M|GJB6_uc001unb.2_Missense_Mutation_p.I201M|GJB6_uc009zzq.1_Missense_Mutation_p.I201M	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	201	Helical; (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)												0.231481	69.824632	76.953458	25	83	AA		KEEP	---	---	---	---	capture		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	Missense_Mutation	SNP	19695017	19695017	6680	13	A	C	C	1	1	GJB6	C	4	4
CRYL1	51084	broad.mit.edu	36	13	19911823	19911823	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:19911823C>T	uc001une.1	-	c.347G>A	c.(346-348)CGA>CAA	p.R116Q	CRYL1_uc001unf.1_Missense_Mutation_p.R94Q|CRYL1_uc001ung.1_Missense_Mutation_p.R94Q	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	116					fatty acid metabolic process|oxidation-reduction process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)												0.302632	114.662291	119.96739	46	106	CC		KEEP	---	---	---	---	capture		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	Missense_Mutation	SNP	19911823	19911823	4059	13	C	T	T	31	31	CRYL1	T	1	1
IFT88	8100	broad.mit.edu	36	13	20115622	20115622	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:20115622G>A	uc001unh.1	+	c.1738G>A	c.(1738-1740)GCT>ACT	p.A580T	IFT88_uc001uni.1_Missense_Mutation_p.A571T|IFT88_uc001unj.1_Missense_Mutation_p.A570T	NM_175605	NP_006522	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	580	TPR 9.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)												0.583333	248.190464	248.989175	77	55	GG		KEEP	---	---	---	---	capture		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	Missense_Mutation	SNP	20115622	20115622	7867	13	G	A	A	34	34	IFT88	A	2	2
XPO4	64328	broad.mit.edu	36	13	20299217	20299217	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:20299217G>A	uc001unq.2	-	c.829C>T	c.(829-831)CTT>TTT	p.L277F		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	277					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)								353				0.480315	193.966664	194.0096	61	66	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	20299217	20299217	18029	13	G	A	A	34	34	XPO4	A	2	2
LATS2	26524	broad.mit.edu	36	13	20447116	20447116	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:20447116G>A	uc009zzs.1	-	c.3160C>T	c.(3160-3162)CGA>TGA	p.R1054*	LATS2_uc001unr.2_Nonsense_Mutation_p.R1054*	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	1054					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|protein phosphorylation	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|pancreas(1)	9		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)								174				0.597015	237.332762	238.443676	80	54	GG		KEEP	---	---	---	---	capture		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	Nonsense_Mutation	SNP	20447116	20447116	8970	13	G	A	A	37	37	LATS2	A	5	1
LATS2	26524	broad.mit.edu	36	13	20461286	20461286	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:20461286G>A	uc009zzs.1	-	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y	LATS2_uc001unr.2_Silent_p.Y211Y	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	211					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|protein phosphorylation	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|pancreas(1)	9		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)								174				0.383562	72.888399	73.75365	28	45	GG		KEEP	---	---	---	---	capture		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	Silent	SNP	20461286	20461286	8970	13	G	A	A	40	40	LATS2	A	1	1
LATS2	26524	broad.mit.edu	36	13	20517956	20517956	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:20517956G>A	uc009zzs.1	-	c.210C>T	c.(208-210)TTC>TTT	p.F70F	LATS2_uc001unr.2_Silent_p.F70F	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	70					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|protein phosphorylation	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|pancreas(1)	9		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)								174				0.557047	243.227758	243.648994	83	66	GG		KEEP	---	---	---	---	capture		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	Silent	SNP	20517956	20517956	8970	13	G	A	A	37	37	LATS2	A	1	1
SKA3	221150	broad.mit.edu	36	13	20632084	20632084	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:20632084G>A	uc001unt.1	-	c.872C>T	c.(871-873)ACT>ATT	p.T291I	SKA3_uc001unu.1_Missense_Mutation_p.T291I|SKA3_uc001unv.1_Missense_Mutation_p.T209I	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	hypothetical protein LOC221150	291					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0														0.549091	458.026488	458.600628	151	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20632084	20632084	14849	13	G	A	A	36	36	SKA3	A	2	2
ZDHHC20	253832	broad.mit.edu	36	13	20885876	20885876	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:20885876T>G	uc001uob.1	-	c.285A>C	c.(283-285)GAA>GAC	p.E95D	ZDHHC20_uc001uoc.1_Non-coding_Transcript|ZDHHC20_uc001uod.1_Non-coding_Transcript|ZDHHC20_uc001uoe.1_Non-coding_Transcript	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	95						integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)												0.537037	100.080606	100.145199	29	25	TT		KEEP	---	---	---	---	capture		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)	Missense_Mutation	SNP	20885876	20885876	18199	13	T	G	G	64	64	ZDHHC20	G	4	4
FGF9	2254	broad.mit.edu	36	13	21144094	21144094	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:21144094G>A	uc001uog.1	+	c.43G>A	c.(43-45)GAT>AAT	p.D15N		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	15					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)				Melanoma(195;1939 2127 12623 13963 52730)								0.243386	105.133438	116.501263	46	143	GG		KEEP	---	---	---	---	capture		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)	Missense_Mutation	SNP	21144094	21144094	6096	13	G	A	A	41	41	FGF9	A	2	2
SACS	26278	broad.mit.edu	36	13	22809250	22809250	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:22809250A>G	uc001uon.2	-	c.6765T>C	c.(6763-6765)TGT>TGC	p.C2255C	SACS_uc001uoo.2_Silent_p.C2108C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2255					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)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		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)								738				0.262136	76.989062	82.254748	27	76	AA		KEEP	---	---	---	---	capture		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	Silent	SNP	22809250	22809250	14284	13	A	G	G	10	10	SACS	G	4	4
SACS	26278	broad.mit.edu	36	13	22810385	22810385	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:22810385C>T	uc001uon.2	-	c.5630G>A	c.(5629-5631)CGA>CAA	p.R1877Q	SACS_uc001uoo.2_Missense_Mutation_p.R1730Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1877					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)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		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)								738				0.28	136.911015	145.617472	56	144	CC		KEEP	---	---	---	---	capture		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	Missense_Mutation	SNP	22810385	22810385	14284	13	C	T	T	31	31	SACS	T	1	1
SACS	26278	broad.mit.edu	36	13	22811029	22811029	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:22811029C>T	uc001uon.2	-	c.4986G>A	c.(4984-4986)ACG>ACA	p.T1662T	SACS_uc001uoo.2_Silent_p.T1515T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1662					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)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		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)							p.T1515T(DND41-Tumor)	738				0.595628	320.287879	321.747598	109	74	CC		KEEP	---	---	---	---	capture		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	Silent	SNP	22811029	22811029	14284	13	C	T	T	19	19	SACS	T	1	1
SACS	26278	broad.mit.edu	36	13	22812027	22812027	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:22812027C>A	uc001uon.2	-	c.3988G>T	c.(3988-3990)GAT>TAT	p.D1330Y	SACS_uc001uoo.2_Missense_Mutation_p.D1183Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1330					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)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		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)								738				0.246835	85.637836	94.863878	39	119	CC		KEEP	---	---	---	---	capture		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	Missense_Mutation	SNP	22812027	22812027	14284	13	C	A	A	32	32	SACS	A	3	3
SACS	26278	broad.mit.edu	36	13	22813369	22813369	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:22813369C>A	uc001uon.2	-	c.2646G>T	c.(2644-2646)AAG>AAT	p.K882N	SACS_uc001uoo.2_Missense_Mutation_p.K735N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	882					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)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		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)								738				0.348624	189.908864	194.328591	76	142	CC		KEEP	---	---	---	---	capture		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	Missense_Mutation	SNP	22813369	22813369	14284	13	C	A	A	32	32	SACS	A	3	3
SACS	26278	broad.mit.edu	36	13	22827713	22827713	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:22827713C>T	uc001uon.2	-	c.1038G>A	c.(1036-1038)CCG>CCA	p.P346P	SACS_uc001uoo.2_Silent_p.P199P|SACS_uc001uop.1_Silent_p.P133P|SACS_uc001uoq.1_Silent_p.P199P	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	346					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)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		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)							p.P199P(ESS1-Tumor)	738				0.233333	62.751043	70.554544	28	92	CC		KEEP	---	---	---	---	capture		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	Silent	SNP	22827713	22827713	14284	13	C	T	T	31	31	SACS	T	1	1
C1QTNF9	338872	broad.mit.edu	36	13	23791016	23791016	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:23791016G>A	uc001upj.1	+	c.227G>A	c.(226-228)CGA>CAA	p.R76Q	C1QTNF9_uc001upe.1_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	76	Collagen-like 1.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)												0.227679	110.902735	126.153132	51	173	GG		KEEP	---	---	---	---	capture		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	Missense_Mutation	SNP	23791016	23791016	2037	13	G	A	A	37	37	C1QTNF9	A	1	1
PARP4	143	broad.mit.edu	36	13	23962967	23962967	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:23962967C>T	uc001upl.1	-	c.1054_splice	c.e10-1	p.L352_splice		NM_006437	NP_006428			poly (ADP-ribose) polymerase family, member 4						cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)	3		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)												0.256637	74.716781	80.788187	29	84	CC		KEEP	---	---	---	---	capture		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	Splice_Site_SNP	SNP	23962967	23962967	11880	13	C	T	T	28	28	PARP4	T	5	2
PARP4	143	broad.mit.edu	36	13	23964672	23964672	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:23964672C>A	uc001upl.1	-	c.940G>T	c.(940-942)GCA>TCA	p.A314S		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	314	PARP alpha-helical.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)	3		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)												0.298039	189.983584	199.292051	76	179	CC		KEEP	---	---	---	---	capture		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	Missense_Mutation	SNP	23964672	23964672	11880	13	C	A	A	28	28	PARP4	A	3	3
PARP4	143	broad.mit.edu	36	13	23965820	23965820	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:23965820C>T	uc001upl.1	-	c.793G>A	c.(793-795)GAT>AAT	p.D265N		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	265	PARP alpha-helical.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)	3		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)												0.295455	63.910808	67.207738	26	62	CC		KEEP	---	---	---	---	capture		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	Missense_Mutation	SNP	23965820	23965820	11880	13	C	T	T	31	31	PARP4	T	1	1
PARP4	143	broad.mit.edu	36	13	23975900	23975900	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:23975900G>T	uc001upl.1	-	c.15C>A	c.(13-15)ATC>ATA	p.I5I		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	5	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)	3		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)												0.486486	147.731174	147.749232	54	57	GG		KEEP	---	---	---	---	capture		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	Silent	SNP	23975900	23975900	11880	13	G	T	T	33	33	PARP4	T	3	3
ATP12A	479	broad.mit.edu	36	13	24163293	24163293	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24163293G>A	uc010aaa.1	+	c.991G>A	c.(991-993)GCT>ACT	p.A331T	ATP12A_uc001upp.1_Missense_Mutation_p.A325T	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	325	Lumenal (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)			Esomeprazole(DB00736)|Pantoprazole(DB00213)	Pancreas(156;1582 1935 18898 22665 26498)								0.531646	117.343645	117.411939	42	37	GG		KEEP	---	---	---	---	capture		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Missense_Mutation	SNP	24163293	24163293	1141	13	G	A	A	38	38	ATP12A	A	1	1
ATP12A	479	broad.mit.edu	36	13	24170876	24170876	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24170876G>T	uc010aaa.1	+	c.1611G>T	c.(1609-1611)GAG>GAT	p.E537D	ATP12A_uc001upp.1_Missense_Mutation_p.E531D	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	531	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)			Esomeprazole(DB00736)|Pantoprazole(DB00213)	Pancreas(156;1582 1935 18898 22665 26498)								0.268041	112.291396	121.734528	52	142	GG		KEEP	---	---	---	---	capture		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Missense_Mutation	SNP	24170876	24170876	1141	13	G	T	T	33	33	ATP12A	T	3	3
RNF17	56163	broad.mit.edu	36	13	24265210	24265210	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24265210G>T	uc001upr.1	+	c.966G>T	c.(964-966)CAG>CAT	p.Q322H	RNF17_uc001upq.1_Missense_Mutation_p.Q322H|RNF17_uc010aab.1_Non-coding_Transcript|RNF17_uc001ups.1_Missense_Mutation_p.Q261H	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	322					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)	1		Lung SC(185;0.0225)|Breast(139;0.077)												0.244565	99.175975	110.121389	45	139	GG		KEEP	---	---	---	---	capture		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	Missense_Mutation	SNP	24265210	24265210	13938	13	G	T	T	33	33	RNF17	T	3	3
RNF17	56163	broad.mit.edu	36	13	24326226	24326226	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24326226C>T	uc001upr.1	+	c.3554C>T	c.(3553-3555)GCA>GTA	p.A1185V	RNF17_uc010aab.1_Non-coding_Transcript|RNF17_uc001ups.1_Missense_Mutation_p.A1124V|RNF17_uc010aac.1_Missense_Mutation_p.A383V|RNF17_uc010aad.1_Missense_Mutation_p.A237V	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1185					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)	1		Lung SC(185;0.0225)|Breast(139;0.077)												0.464968	195.737724	195.907279	73	84	CC		KEEP	---	---	---	---	capture		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	Missense_Mutation	SNP	24326226	24326226	13938	13	C	T	T	25	25	RNF17	T	2	2
CENPJ	55835	broad.mit.edu	36	13	24378890	24378890	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24378890T>A	uc001upt.2	-	c.1286A>T	c.(1285-1287)AAA>ATA	p.K429I	CENPJ_uc010aae.1_Non-coding_Transcript|CENPJ_uc010aaf.1_Non-coding_Transcript|CENPJ_uc001upu.2_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	429					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)												0.255507	126.538538	138.853766	58	169	TT		KEEP	---	---	---	---	capture		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	Missense_Mutation	SNP	24378890	24378890	3367	13	T	A	A	64	64	CENPJ	A	4	4
CENPJ	55835	broad.mit.edu	36	13	24380242	24380242	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24380242C>T	uc001upt.2	-	c.888G>A	c.(886-888)GAG>GAA	p.E296E	CENPJ_uc010aae.1_Non-coding_Transcript|CENPJ_uc010aaf.1_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	296					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)												0.490798	246.54406	246.557106	80	83	CC		KEEP	---	---	---	---	capture		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	Silent	SNP	24380242	24380242	3367	13	C	T	T	32	32	CENPJ	T	2	2
CENPJ	55835	broad.mit.edu	36	13	24384953	24384953	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24384953C>A	uc001upt.2	-	c.211G>T	c.(211-213)GAA>TAA	p.E71*	CENPJ_uc010aae.1_Non-coding_Transcript|CENPJ_uc010aaf.1_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	71					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)												0.607843	354.004853	356.074726	124	80	CC		KEEP	---	---	---	---	capture		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	Nonsense_Mutation	SNP	24384953	24384953	3367	13	C	A	A	32	32	CENPJ	A	5	3
NUPL1	9818	broad.mit.edu	36	13	24799127	24799127	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24799127A>C	uc001uqi.1	+	c.1105A>C	c.(1105-1107)AAC>CAC	p.N369H	NUPL1_uc001uqg.1_Missense_Mutation_p.N369H|NUPL1_uc001uqh.1_Missense_Mutation_p.N369H|NUPL1_uc001uqj.1_Missense_Mutation_p.N357H	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	369	14 X 2 AA repeats of F-G.|Potential.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)				Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)								0.271277	145.448602	154.312887	51	137	AA		KEEP	---	---	---	---	capture		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	Missense_Mutation	SNP	24799127	24799127	11179	13	A	C	C	1	1	NUPL1	C	4	4
NUPL1	9818	broad.mit.edu	36	13	24803645	24803645	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24803645G>A	uc001uqi.1	+	c.1384G>A	c.(1384-1386)GCA>ACA	p.A462T	NUPL1_uc001uqg.1_Missense_Mutation_p.A462T|NUPL1_uc001uqh.1_Missense_Mutation_p.A462T|NUPL1_uc001uqj.1_Missense_Mutation_p.A450T	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	462	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)				Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)								0.166667	7.747316	11.531844	6	30	GG		KEEP	---	---	---	---	capture		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	Missense_Mutation	SNP	24803645	24803645	11179	13	G	A	A	34	34	NUPL1	A	2	2
RNF6	6049	broad.mit.edu	36	13	25686658	25686658	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:25686658C>T	uc001uqo.1	-	c.1361G>A	c.(1360-1362)CGA>CAA	p.R454Q	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.1_Missense_Mutation_p.R454Q|RNF6_uc001uqp.1_Missense_Mutation_p.R454Q|RNF6_uc001uqq.1_Missense_Mutation_p.R454Q	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	454					negative regulation of axon extension|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|regulation of gene-specific transcription|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|transcription activator activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)												0.272727	114.518677	122.716312	48	128	CC		KEEP	---	---	---	---	capture		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	Missense_Mutation	SNP	25686658	25686658	13977	13	C	T	T	31	31	RNF6	T	1	1
CDK8	1024	broad.mit.edu	36	13	25809760	25809760	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:25809760C>T	uc001uqr.1	+	c.185C>T	c.(184-186)TCG>TTG	p.S62L	CDK8_uc001uqs.1_Missense_Mutation_p.S62L|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	62	Protein kinase.				protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)	4	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)								186				0.575949	275.53573	276.328664	91	67	CC		KEEP	---	---	---	---	capture		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	Missense_Mutation	SNP	25809760	25809760	3279	13	C	T	T	31	31	CDK8	T	1	1
CDK8	1024	broad.mit.edu	36	13	25876210	25876210	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:25876210C>T	uc001uqr.1	+	c.1387C>T	c.(1387-1389)CGG>TGG	p.R463W	CDK8_uc001uqs.1_Missense_Mutation_p.R462W|CDK8_uc001uqt.1_Missense_Mutation_p.R290W	NM_001260	NP_001251	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	463					protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)	4	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)								186				0.252137	132.710809	145.772947	59	175	CC		KEEP	---	---	---	---	capture		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	Missense_Mutation	SNP	25876210	25876210	3279	13	C	T	T	31	31	CDK8	T	1	1
USP12	219333	broad.mit.edu	36	13	26562045	26562045	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:26562045G>A	uc001uqy.1	-	c.709C>T	c.(709-711)CGC>TGC	p.R237C		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin-specific protease 12-like 1	237					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0		Lung SC(185;0.0161)				Ovarian(37;808 911 7590 44442 44991)								0.574074	183.755857	184.271647	62	46	GG		KEEP	---	---	---	---	capture		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	Missense_Mutation	SNP	26562045	26562045	17605	13	G	A	A	37	37	USP12	A	1	1
LNX2	222484	broad.mit.edu	36	13	27034863	27034863	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:27034863G>T	uc001url.2	-	c.911C>A	c.(910-912)TCC>TAC	p.S304Y	LNX2_uc001urm.1_Missense_Mutation_p.S304Y	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	304	PDZ 1.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)								288				0.52381	241.477648	241.559061	88	80	GG		KEEP	---	---	---	---	capture	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	Missense_Mutation	SNP	27034863	27034863	9195	13	G	T	T	41	41	LNX2	T	3	3
LNX2	222484	broad.mit.edu	36	13	27053592	27053592	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:27053592G>A	uc001url.2	-	c.249C>T	c.(247-249)TTC>TTT	p.F83F	LNX2_uc001urm.1_Silent_p.F83F	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	83	RING-type.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)								288				0.160714	32.773209	45.049152	18	94	GG		KEEP	---	---	---	---	capture	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	Silent	SNP	27053592	27053592	9195	13	G	A	A	33	33	LNX2	A	2	2
FLT3	2322	broad.mit.edu	36	13	27522339	27522339	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:27522339G>A	uc001urw.1	-	c.635C>T	c.(634-636)GCT>GTT	p.A212V	FLT3_uc010aao.1_Non-coding_Transcript	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	212	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8072)|ovary(2)|lung(1)|central_nervous_system(1)	8076	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)			Sorafenib(DB00398)|Sunitinib(DB01268)					630				0.230769	53.742178	60.654319	24	80	GG		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	27522339	27522339	6184	13	G	A	A	34	34	FLT3	A	2	2
PAN3	255967	broad.mit.edu	36	13	27752679	27752679	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:27752679G>A	uc001urz.1	+	c.1881_splice	c.e15+1	p.K627_splice	PAN3_uc001urx.1_Splice_Site_SNP_p.K573_splice|PAN3_uc001ury.1_Splice_Site_SNP_p.K461_splice	NM_175854	NP_787050			PABP1-dependent poly A-specific ribonuclease						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|protein phosphorylation	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)												0.264368	50.785227	55.153651	23	64	GG		KEEP	---	---	---	---	capture	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	Splice_Site_SNP	SNP	27752679	27752679	11832	13	G	A	A	44	44	PAN3	A	5	2
FLT1	2321	broad.mit.edu	36	13	27869110	27869110	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:27869110G>A	uc001usb.2	-	c.1647C>T	c.(1645-1647)AGC>AGT	p.S549S	FLT1_uc010aar.1_Silent_p.S549S|FLT1_uc001usc.2_Silent_p.S549S|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Silent_p.S32S	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	549	Ig-like C2-type 5.|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(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)			Sunitinib(DB01268)					738				0.554054	130.478986	130.666737	41	33	GG		KEEP	---	---	---	---	capture	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)	Silent	SNP	27869110	27869110	6183	13	G	A	A	34	34	FLT1	A	2	2
SLC46A3	283537	broad.mit.edu	36	13	28182972	28182972	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:28182972G>A	uc001usj.1	-	c.1069C>T	c.(1069-1071)CCG>TCG	p.P357S	SLC46A3_uc001usg.1_Missense_Mutation_p.P282S|SLC46A3_uc001ush.1_Missense_Mutation_p.P357S|SLC46A3_uc001usi.1_Missense_Mutation_p.P357S|SLC46A3_uc001usk.2_3'UTR	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	357	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)	1		Lung SC(185;0.0367)												0.295652	80.694735	84.99714	34	81	GG		KEEP	---	---	---	---	capture		all cancers(112;0.159)	Missense_Mutation	SNP	28182972	28182972	15143	13	G	A	A	42	42	SLC46A3	A	2	2
MTUS2	23281	broad.mit.edu	36	13	28753867	28753867	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:28753867C>T	uc001usl.2	+	c.2701C>T	c.(2701-2703)CCA>TCA	p.P901S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	891	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.342105	32.506076	33.323254	13	25	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28753867	28753867	10359	13	C	T	T	26	26	MTUS2	T	2	2
SLC7A1	6541	broad.mit.edu	36	13	29007957	29007957	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:29007957G>A	uc001uso.1	-	c.369C>T	c.(367-369)ATC>ATT	p.I123I		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	123	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)			L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.223529	40.189041	46.157503	19	66	GG		KEEP	---	---	---	---	capture		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	Silent	SNP	29007957	29007957	15189	13	G	A	A	37	37	SLC7A1	A	1	1
KATNAL1	84056	broad.mit.edu	36	13	29727694	29727694	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:29727694C>A	uc001uss.1	-	c.382G>T	c.(382-384)GCA>TCA	p.A128S	KATNAL1_uc001ust.1_Missense_Mutation_p.A128S	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	128						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)												0.314145	483.690441	502.387824	191	417	CC		KEEP	---	---	---	---	capture		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	Missense_Mutation	SNP	29727694	29727694	8289	13	C	A	A	26	26	KATNAL1	A	3	3
USPL1	10208	broad.mit.edu	36	13	30103265	30103265	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:30103265T>G	uc001utc.2	+	c.522T>G	c.(520-522)ATT>ATG	p.I174M	USPL1_uc001utb.2_De_novo_Start_InFrame|USPL1_uc001utd.2_Intron	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	174					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(1)	1		Lung SC(185;0.0257)|Breast(139;0.203)				Ovarian(60;318 1180 1554 28110 31601)								0.239766	113.39688	123.961393	41	130	TT		KEEP	---	---	---	---	capture		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	Missense_Mutation	SNP	30103265	30103265	17656	13	T	G	G	64	64	USPL1	G	4	4
USPL1	10208	broad.mit.edu	36	13	30129803	30129803	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:30129803C>A	uc001utc.2	+	c.1589C>A	c.(1588-1590)TCT>TAT	p.S530Y	USPL1_uc001utd.2_Missense_Mutation_p.S201Y|USPL1_uc001ute.1_Missense_Mutation_p.S201Y	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	530					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(1)	1		Lung SC(185;0.0257)|Breast(139;0.203)				Ovarian(60;318 1180 1554 28110 31601)								0.296296	147.401446	155.427687	64	152	CC		KEEP	---	---	---	---	capture		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	Missense_Mutation	SNP	30129803	30129803	17656	13	C	A	A	32	32	USPL1	A	3	3
HSPH1	10808	broad.mit.edu	36	13	30609477	30609477	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:30609477G>A	uc001utl.1	-	c.2561C>T	c.(2560-2562)TCT>TTT	p.S854F	HSPH1_uc001utj.1_Missense_Mutation_p.S852F|HSPH1_uc001utk.1_Missense_Mutation_p.S808F|HSPH1_uc010aaw.1_Missense_Mutation_p.S811F	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	852					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)												0.251082	148.109303	161.141344	58	173	GG		KEEP	---	---	---	---	capture		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	Missense_Mutation	SNP	30609477	30609477	7731	13	G	A	A	33	33	HSPH1	A	2	2
HSPH1	10808	broad.mit.edu	36	13	30620180	30620180	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:30620180G>A	uc001utl.1	-	c.1300C>T	c.(1300-1302)CTC>TTC	p.L434F	HSPH1_uc001utj.1_Missense_Mutation_p.L432F|HSPH1_uc001utk.1_Missense_Mutation_p.L432F|HSPH1_uc010aaw.1_Missense_Mutation_p.L391F	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	432					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)												0.323077	282.846796	291.886413	105	220	GG		KEEP	---	---	---	---	capture		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	Missense_Mutation	SNP	30620180	30620180	7731	13	G	A	A	33	33	HSPH1	A	2	2
RXFP2	122042	broad.mit.edu	36	13	31269486	31269486	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31269486C>T	uc001utt.1	+	c.1935C>T	c.(1933-1935)TTC>TTT	p.F645F	RXFP2_uc010aba.1_Silent_p.F604F	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	645	Helical; Name=6; (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)												0.345178	185.228498	189.403804	68	129	CC		KEEP	---	---	---	---	capture		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	Silent	SNP	31269486	31269486	14240	13	C	T	T	32	32	RXFP2	T	2	2
FRY	10129	broad.mit.edu	36	13	31607298	31607298	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31607298C>A	uc001utx.1	+	c.1055C>A	c.(1054-1056)TCT>TAT	p.S352Y	FRY_uc010abb.1_5'UTR	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)												0.39759	87.74934	88.513312	33	50	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	31607298	31607298	6313	13	C	A	A	32	32	FRY	A	3	3
FRY	10129	broad.mit.edu	36	13	31621884	31621884	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31621884G>T	uc001utx.1	+	c.1393_splice	c.e14-1	p.E465_splice	FRY_uc010abb.1_Splice_Site_SNP	NM_023037	NP_075463			furry homolog						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)												0.21875	29.01055	33.68006	14	50	GG		KEEP	---	---	---	---	capture		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)	Splice_Site_SNP	SNP	31621884	31621884	6313	13	G	T	T	35	35	FRY	T	5	3
FRY	10129	broad.mit.edu	36	13	31690914	31690914	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31690914C>T	uc001utx.1	+	c.4711C>T	c.(4711-4713)CGC>TGC	p.R1571C	FRY_uc010abb.1_Missense_Mutation_p.R297C	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)												0.517241	87.445502	87.460293	30	28	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	31690914	31690914	6313	13	C	T	T	31	31	FRY	T	1	1
FRY	10129	broad.mit.edu	36	13	31719572	31719572	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31719572G>A	uc001utx.1	+	c.6941G>A	c.(6940-6942)CGA>CAA	p.R2314Q	FRY_uc010abb.1_Missense_Mutation_p.R1040Q	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)												0.236607	119.457734	133.66722	53	171	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	31719572	31719572	6313	13	G	A	A	37	37	FRY	A	1	1
FRY	10129	broad.mit.edu	36	13	31739395	31739395	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31739395G>A	uc001utx.1	+	c.8035G>A	c.(8035-8037)GAT>AAT	p.D2679N	FRY_uc010abb.1_Missense_Mutation_p.D1405N|FRY_uc001uty.1_Missense_Mutation_p.D234N|FRY_uc001utz.1_Missense_Mutation_p.D204N	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)												0.206897	72.504649	86.361487	36	138	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	31739395	31739395	6313	13	G	A	A	37	37	FRY	A	1	1
BRCA2	675	broad.mit.edu	36	13	31804408	31804408	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31804408G>T	uc001uub.1	+	c.794_splice	c.e10-1	p.G265_splice	BRCA2_uc001uua.1_Splice_Site_SNP_p.G142_splice	NM_000059	NP_000050			breast cancer 2, early onset						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|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.504065	174.835302	174.83693	62	61	GG		KEEP	---	---	---	---	capture		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)	Splice_Site_SNP	SNP	31804408	31804408	1530	13	G	T	T	35	35	BRCA2	T	5	3
BRCA2	675	broad.mit.edu	36	13	31804551	31804551	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31804551T>A	uc001uub.1	+	c.936T>A	c.(934-936)TTT>TTA	p.F312L	BRCA2_uc001uua.1_Missense_Mutation_p.F189L	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	312					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|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.27907	110.617791	118.175586	48	124	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	31804551	31804551	1530	13	T	A	A	64	64	BRCA2	A	4	4
BRCA2	675	broad.mit.edu	36	13	31809647	31809647	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31809647C>T	uc001uub.1	+	c.3155C>T	c.(3154-3156)GCA>GTA	p.A1052V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1052					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|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.264706	78.229883	85.044575	36	100	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	31809647	31809647	1530	13	C	T	T	25	25	BRCA2	T	2	2
BRCA2	675	broad.mit.edu	36	13	31810949	31810949	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31810949T>C	uc001uub.1	+	c.4457T>C	c.(4456-4458)GTT>GCT	p.V1486A		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1486					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|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.32716	165.706437	170.005797	53	109	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	31810949	31810949	1530	13	T	C	C	60	60	BRCA2	C	4	4
BRCA2	675	broad.mit.edu	36	13	31811877	31811877	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31811877A>C	uc001uub.1	+	c.5385A>C	c.(5383-5385)AAA>AAC	p.K1795N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1795					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|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.335616	142.327468	145.8193	49	97	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	31811877	31811877	1530	13	A	C	C	3	3	BRCA2	C	4	4
BRCA2	675	broad.mit.edu	36	13	31843129	31843129	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31843129C>T	uc001uub.1	+	c.8524C>T	c.(8524-8526)CGC>TGC	p.R2842C		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2842			R -> C (in one patient with esophageal carcinoma; somatic mutation).		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|transcription activator activity	p.R2842C(1)		ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.287037	74.579602	78.974501	31	77	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	31843129	31843129	1530	13	C	T	T	31	31	BRCA2	T	1	1
N4BP2L1	90634	broad.mit.edu	36	13	31879784	31879784	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31879784C>A	uc001uuc.1	-	c.305G>T	c.(304-306)AGA>ATA	p.R102I	N4BP2L1_uc001uud.1_Missense_Mutation_p.R102I|N4BP2L1_uc001uuf.2_Missense_Mutation_p.R102I	NM_052818	NP_438169	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1 isoform 1	102					cell killing		ATP binding			ovary(1)	1		Lung SC(185;0.0262)												0.284404	140.309227	149.443474	62	156	CC		KEEP	---	---	---	---	capture		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)	Missense_Mutation	SNP	31879784	31879784	10506	13	C	A	A	32	32	N4BP2L1	A	3	3
N4BP2L2	10443	broad.mit.edu	36	13	31916021	31916021	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31916021A>C	uc010abe.1	-	c.653T>G	c.(652-654)TTT>TGT	p.F218C	N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc001uug.2_Missense_Mutation_p.F101C|N4BP2L2_uc010abd.1_Missense_Mutation_p.F131C|N4BP2L2_uc001uuh.2_Missense_Mutation_p.F49C	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment					cell killing		ATP binding				0		Lung SC(185;0.0262)												0.192308	12.660381	14.958426	5	21	AA		KEEP	---	---	---	---	capture		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	Missense_Mutation	SNP	31916021	31916021	10507	13	A	C	C	1	1	N4BP2L2	C	4	4
KL	9365	broad.mit.edu	36	13	32488966	32488966	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:32488966A>G	uc001uus.1	+	c.388A>G	c.(388-390)AAC>GAC	p.N130D	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho	130	Glycosyl hydrolase-1 1.|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)	2	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)												0.278689	40.247067	42.936606	17	44	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	32488966	32488966	8643	13	A	G	G	5	5	KL	G	4	4
KL	9365	broad.mit.edu	36	13	32525938	32525938	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:32525938C>A	uc001uus.1	+	c.854C>A	c.(853-855)TCT>TAT	p.S285Y	KL_uc001uur.1_5'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho	285	Glycosyl hydrolase-1 1.|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)	2	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)												0.275591	157.912724	169.45088	70	184	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	32525938	32525938	8643	13	C	A	A	32	32	KL	A	3	3
KL	9365	broad.mit.edu	36	13	32533074	32533074	+	Missense_Mutation	SNP	C	T	T	rs34292549	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:32533074C>T	uc001uus.1	+	c.1858C>T	c.(1858-1860)CGC>TGC	p.R620C	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho	620	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)	2	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)												0.558511	307.681238	308.240986	105	83	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	32533074	32533074	8643	13	C	T	T	31	31	KL	T	1	1
KL	9365	broad.mit.edu	36	13	32533726	32533726	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:32533726C>T	uc001uus.1	+	c.2510C>T	c.(2509-2511)ACG>ATG	p.T837M	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho	837	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)	2	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)												0.277457	110.817857	118.534355	48	125	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	32533726	32533726	8643	13	C	T	T	19	19	KL	T	1	1
STARD13	90627	broad.mit.edu	36	13	32601667	32601667	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:32601667G>A	uc001uuw.1	-	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	STARD13_uc001uuu.1_Missense_Mutation_p.R375C|STARD13_uc001uuv.1_Missense_Mutation_p.R265C|STARD13_uc001uux.1_Missense_Mutation_p.R348C|STARD13_uc010abh.1_Missense_Mutation_p.R368C	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	383					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)	3	all_epithelial(80;0.155)	Lung SC(185;0.0367)												0.258993	84.044682	91.353657	36	103	GG		KEEP	---	---	---	---	capture		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	Missense_Mutation	SNP	32601667	32601667	15775	13	G	A	A	39	39	STARD13	A	1	1
NBEA	26960	broad.mit.edu	36	13	34631510	34631510	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:34631510G>T	uc001uvb.1	+	c.3202G>T	c.(3202-3204)GAA>TAA	p.E1068*	NBEA_uc010abi.1_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1068						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)												0.666667	168.660888	170.795867	58	29	GG		KEEP	---	---	---	---	capture		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	Nonsense_Mutation	SNP	34631510	34631510	10583	13	G	T	T	33	33	NBEA	T	5	3
NBEA	26960	broad.mit.edu	36	13	35078572	35078572	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:35078572C>T	uc001uvb.1	+	c.7306C>T	c.(7306-7308)CCA>TCA	p.P2436S	NBEA_uc010abi.1_Missense_Mutation_p.P1092S|NBEA_uc010abj.1_Missense_Mutation_p.P229S|NBEA_uc001uvd.1_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2436	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)												0.210526	8.188611	9.662508	4	15	CC		KEEP	---	---	---	---	capture		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	Missense_Mutation	SNP	35078572	35078572	10583	13	C	T	T	30	30	NBEA	T	2	2
DCLK1	9201	broad.mit.edu	36	13	35300395	35300395	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:35300395G>A	uc001uvf.1	-	c.1279C>T	c.(1279-1281)CGA>TGA	p.R427*	DCLK1_uc010abk.1_Intron|DCLK1_uc010abl.1_Nonsense_Mutation_p.R120*	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin and CaM kinase-like 1	427	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|protein phosphorylation|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(4)|ovary(2)	6		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)								453				0.4	89.68812	90.386171	32	48	GG		KEEP	---	---	---	---	capture	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)	Nonsense_Mutation	SNP	35300395	35300395	4462	13	G	A	A	37	37	DCLK1	A	5	1
DCLK1	9201	broad.mit.edu	36	13	35584195	35584195	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:35584195C>A	uc001uvf.1	-	c.534G>T	c.(532-534)GAG>GAT	p.E178D		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin and CaM kinase-like 1	178					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|protein phosphorylation|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(4)|ovary(2)	6		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)								453				0.600791	424.956482	427.188182	152	101	CC		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	35584195	35584195	4462	13	C	A	A	32	32	DCLK1	A	3	3
CCNA1	8900	broad.mit.edu	36	13	35905310	35905310	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:35905310G>A	uc001uvr.2	+	c.249G>A	c.(247-249)GTG>GTA	p.V83V	CCNA1_uc010abp.1_Silent_p.V39V|CCNA1_uc010abq.1_Silent_p.V39V|CCNA1_uc001uvs.2_Silent_p.V82V|CCNA1_uc010abr.1_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	cyclin A1 isoform a	83					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein binding			lung(2)|ovary(1)	3		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)								263				0.243243	38.208088	42.659895	18	56	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	Silent	SNP	35905310	35905310	3036	13	G	A	A	46	46	CCNA1	A	2	2
CCNA1	8900	broad.mit.edu	36	13	35912168	35912168	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:35912168G>A	uc001uvr.2	+	c.946G>A	c.(946-948)GAT>AAT	p.D316N	CCNA1_uc010abp.1_Missense_Mutation_p.D272N|CCNA1_uc010abq.1_Missense_Mutation_p.D272N|CCNA1_uc001uvs.2_Missense_Mutation_p.D315N|CCNA1_uc010abr.1_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	cyclin A1 isoform a	316					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein binding			lung(2)|ovary(1)	3		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)							p.D316N(FTC133-Tumor)	263				0.552448	233.207987	233.547678	79	64	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	Missense_Mutation	SNP	35912168	35912168	3036	13	G	A	A	37	37	CCNA1	A	1	1
C13orf36	400120	broad.mit.edu	36	13	36167436	36167436	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:36167436C>T	uc001uvt.2	+	c.221C>T	c.(220-222)TCC>TTC	p.S74F	C13orf36_uc010abs.1_Missense_Mutation_p.S74F	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	74	Poly-Ser.					integral to membrane					0														0.275862	149.704528	160.197833	64	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36167436	36167436	1777	13	C	T	T	30	30	C13orf36	T	2	2
SMAD9	4093	broad.mit.edu	36	13	36351433	36351433	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:36351433G>A	uc001uvw.2	-	c.394C>T	c.(394-396)CGC>TGC	p.R132C	SMAD9_uc001uvx.2_Missense_Mutation_p.R132C	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	132	MH1.				BMP signaling pathway|regulation of transcription, DNA-dependent|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)												0.228916	45.782148	51.37613	19	64	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	36351433	36351433	15262	13	G	A	A	39	39	SMAD9	A	1	1
ALG5	29880	broad.mit.edu	36	13	36467729	36467729	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:36467729G>A	uc001uvy.1	-	c.71C>T	c.(70-72)TCC>TTC	p.S24F		NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	dolichyl-phosphate beta-glucosyltransferase	24	Helical; Signal-anchor for type II membrane protein; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)												0.584	220.284634	221.052896	73	52	GG		KEEP	---	---	---	---	capture		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	Missense_Mutation	SNP	36467729	36467729	524	13	G	A	A	41	41	ALG5	A	2	2
FAM48A	55578	broad.mit.edu	36	13	36484376	36484376	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:36484376A>C	uc001uwk.1	-	c.2288T>G	c.(2287-2289)GTT>GGT	p.V763G	FAM48A_uc001uwd.1_Missense_Mutation_p.V171G|FAM48A_uc001uwe.1_Missense_Mutation_p.V168G|FAM48A_uc001uwf.1_Missense_Mutation_p.V250G|FAM48A_uc010abt.1_Missense_Mutation_p.V685G|FAM48A_uc001uwg.1_Missense_Mutation_p.V684G|FAM48A_uc001uwh.1_Missense_Mutation_p.V685G|FAM48A_uc001uwi.1_Missense_Mutation_p.V684G|FAM48A_uc001uwj.1_Missense_Mutation_p.V685G	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	684	Gln-rich.				autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)												0.103261	46.491047	104.152602	38	330	AA		KEEP	---	---	---	---	capture		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	Missense_Mutation	SNP	36484376	36484376	5794	13	A	C	C	2	2	FAM48A	C	4	4
FAM48A	55578	broad.mit.edu	36	13	36489402	36489402	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:36489402G>A	uc001uwk.1	-	c.2209C>T	c.(2209-2211)CCT>TCT	p.P737S	FAM48A_uc001uwd.1_Missense_Mutation_p.P145S|FAM48A_uc001uwe.1_Missense_Mutation_p.P142S|FAM48A_uc001uwf.1_Missense_Mutation_p.P224S|FAM48A_uc010abt.1_Missense_Mutation_p.P659S|FAM48A_uc001uwg.1_Missense_Mutation_p.P658S|FAM48A_uc001uwh.1_Missense_Mutation_p.P659S|FAM48A_uc001uwi.1_Missense_Mutation_p.P658S|FAM48A_uc001uwj.1_Missense_Mutation_p.P659S	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	658	Gln-rich.				autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)												0.254054	109.025796	119.193978	47	138	GG		KEEP	---	---	---	---	capture		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	Missense_Mutation	SNP	36489402	36489402	5794	13	G	A	A	41	41	FAM48A	A	2	2
FAM48A	55578	broad.mit.edu	36	13	36520073	36520073	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:36520073A>G	uc001uwk.1	-	c.40T>C	c.(40-42)TAT>CAT	p.Y14H	FAM48A_uc010abt.1_Missense_Mutation_p.Y14H|FAM48A_uc001uwg.1_Missense_Mutation_p.Y14H|FAM48A_uc001uwh.1_Missense_Mutation_p.Y14H|FAM48A_uc001uwi.1_Missense_Mutation_p.Y14H|FAM48A_uc001uwj.1_Missense_Mutation_p.Y14H|FAM48A_uc001uwl.1_Missense_Mutation_p.Y14H	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	14					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)												0.227642	76.941653	85.312343	28	95	AA		KEEP	---	---	---	---	capture		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	Missense_Mutation	SNP	36520073	36520073	5794	13	A	G	G	14	14	FAM48A	G	4	4
POSTN	10631	broad.mit.edu	36	13	37042737	37042737	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:37042737C>T	uc001uwo.2	-	c.2249G>A	c.(2248-2250)CGA>CAA	p.R750Q	POSTN_uc010abu.1_Missense_Mutation_p.R750Q|POSTN_uc001uwp.2_Missense_Mutation_p.R693Q|POSTN_uc001uwq.1_Missense_Mutation_p.R693Q|POSTN_uc001uwr.1_Missense_Mutation_p.R723Q	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	750					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)												0.579882	287.960937	288.900711	98	71	CC		KEEP	---	---	---	---	capture		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	Missense_Mutation	SNP	37042737	37042737	12688	13	C	T	T	31	31	POSTN	T	1	1
TRPC4	7223	broad.mit.edu	36	13	37164164	37164164	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:37164164G>A	uc010abx.1	-	c.1206C>T	c.(1204-1206)GTC>GTT	p.V402V	TRPC4_uc010abv.1_Intron|TRPC4_uc010abw.1_Silent_p.V229V|TRPC4_uc001uws.1_Silent_p.V402V|TRPC4_uc001uwt.1_Silent_p.V402V|TRPC4_uc010aby.1_Silent_p.V402V	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	402	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4														0.584615	225.71049	226.522215	76	54	GG		KEEP	---	---	---	---	capture		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	Silent	SNP	37164164	37164164	17131	13	G	A	A	37	37	TRPC4	A	1	1
FREM2	341640	broad.mit.edu	36	13	38161830	38161830	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:38161830A>C	uc001uwv.1	+	c.2349A>C	c.(2347-2349)AAA>AAC	p.K783N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	783	CSPG 4.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	10		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)												0.255639	92.289542	99.491456	34	99	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	38161830	38161830	6292	13	A	C	C	1	1	FREM2	C	4	4
FREM2	341640	broad.mit.edu	36	13	38162766	38162766	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:38162766C>T	uc001uwv.1	+	c.3285C>T	c.(3283-3285)GTC>GTT	p.V1095V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1095	Extracellular (Potential).|CSPG 7.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	10		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)												0.27044	100.552356	108.113693	43	116	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	38162766	38162766	6292	13	C	T	T	31	31	FREM2	T	1	1
FREM2	341640	broad.mit.edu	36	13	38164155	38164155	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:38164155C>T	uc001uwv.1	+	c.4674C>T	c.(4672-4674)GTC>GTT	p.V1558V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1558	Extracellular (Potential).|CSPG 11.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	10		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)												0.361963	154.566238	157.304762	59	104	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	38164155	38164155	6292	13	C	T	T	31	31	FREM2	T	1	1
FREM2	341640	broad.mit.edu	36	13	38322334	38322334	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:38322334G>A	uc001uwv.1	+	c.6539G>A	c.(6538-6540)CGC>CAC	p.R2180H	FREM2_uc001uww.2_Missense_Mutation_p.R266H	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2180	Extracellular (Potential).|Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	10		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)												0.314815	81.906531	85.204464	34	74	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	38322334	38322334	6292	13	G	A	A	38	38	FREM2	A	1	1
FREM2	341640	broad.mit.edu	36	13	38331655	38331655	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:38331655C>T	uc001uwv.1	+	c.7447C>T	c.(7447-7449)CGT>TGT	p.R2483C	FREM2_uc001uww.2_Missense_Mutation_p.R569C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2483	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	10		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)												0.288288	79.792778	84.231753	32	79	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	38331655	38331655	6292	13	C	T	T	31	31	FREM2	T	1	1
C13orf23	80209	broad.mit.edu	36	13	38506283	38506283	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:38506283G>A	uc001uwy.1	-	c.96C>T	c.(94-96)TAC>TAT	p.Y32Y	C13orf23_uc001uwz.1_Intron	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	32										ovary(2)	2		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)												0.188235	34.208072	41.897586	16	69	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	38506283	38506283	1768	13	G	A	A	36	36	C13orf23	A	2	2
COG6	57511	broad.mit.edu	36	13	39149617	39149617	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:39149617G>T	uc001uxh.1	+	c.441G>T	c.(439-441)GAG>GAT	p.E147D	COG6_uc001uxi.1_Missense_Mutation_p.E95D|COG6_uc010acb.1_Missense_Mutation_p.E147D	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	147					protein transport	Golgi membrane|Golgi transport complex				kidney(1)	1		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)												0.488889	121.38414	121.394137	44	46	GG		KEEP	---	---	---	---	capture		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	Missense_Mutation	SNP	39149617	39149617	3800	13	G	T	T	33	33	COG6	T	3	3
FOXO1	2308	broad.mit.edu	36	13	40032955	40032955	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:40032955G>A	uc001uxl.2	-	c.673C>T	c.(673-675)CGT>TGT	p.R225C	FOXO1_uc010acc.1_Missense_Mutation_p.R40C	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	225	Fork-head.				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|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		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|central_nervous_system(1)	947		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)								55				0.3	104.389992	109.396991	42	98	GG		KEEP	---	---	---	---	capture		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	Missense_Mutation	SNP	40032955	40032955	6269	13	G	A	A	37	37	FOXO1	A	1	1
KBTBD6	89890	broad.mit.edu	36	13	40602715	40602715	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:40602715C>T	uc001uxu.1	-	c.1933G>A	c.(1933-1935)GAC>AAC	p.D645N	KBTBD6_uc010ace.1_Intron	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	645	Kelch 6.						protein binding			ovary(1)	1		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)												0.320755	88.221336	91.242308	34	72	CC		KEEP	---	---	---	---	capture		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	Missense_Mutation	SNP	40602715	40602715	8302	13	C	T	T	30	30	KBTBD6	T	2	2
MTRF1	9617	broad.mit.edu	36	13	40732743	40732743	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:40732743C>A	uc001uxx.1	-	c.301G>T	c.(301-303)GAA>TAA	p.E101*	MTRF1_uc001uxy.1_Nonsense_Mutation_p.E101*|MTRF1_uc001uxz.1_5'UTR|MTRF1_uc001uyc.1_Nonsense_Mutation_p.E101*	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	101					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)												0.607345	614.530303	618.088378	215	139	CC		KEEP	---	---	---	---	capture		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)	Nonsense_Mutation	SNP	40732743	40732743	10352	13	C	A	A	30	30	MTRF1	A	5	3
MTRF1	9617	broad.mit.edu	36	13	40732804	40732804	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:40732804C>T	uc001uxx.1	-	c.240G>A	c.(238-240)GAG>GAA	p.E80E	MTRF1_uc001uxy.1_Silent_p.E80E|MTRF1_uc001uxz.1_5'UTR|MTRF1_uc001uyc.1_Silent_p.E80E	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	80					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)												0.234807	205.675307	228.975756	85	277	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	40732804	40732804	10352	13	C	T	T	32	32	MTRF1	T	2	2
C13orf15	28984	broad.mit.edu	36	13	40930420	40930420	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:40930420G>A	uc001uyi.2	+	c.50_splice	c.e2-1	p.A17_splice		NM_014059	NP_054778			response gene to complement 32						cell cycle|regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus					0		Lung NSC(96;7.5e-06)|Prostate(109;0.0181)|Breast(139;0.0204)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)												0.214286	6.716971	7.772663	3	11	GG		KEEP	---	---	---	---	capture		all cancers(112;8.62e-09)|Epithelial(112;8.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000504)|GBM - Glioblastoma multiforme(144;0.000909)|BRCA - Breast invasive adenocarcinoma(63;0.0679)	Splice_Site_SNP	SNP	40930420	40930420	1765	13	G	A	A	34	34	C13orf15	A	5	2
KIAA0564	23078	broad.mit.edu	36	13	41040403	41040403	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:41040403G>A	uc001uyj.1	-	c.5648C>T	c.(5647-5649)GCC>GTC	p.A1883V		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1883	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)	5		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)												0.289256	84.367953	89.190411	35	86	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	Missense_Mutation	SNP	41040403	41040403	8492	13	G	A	A	42	42	KIAA0564	A	2	2
KIAA0564	23078	broad.mit.edu	36	13	41283451	41283451	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:41283451G>T	uc001uyj.1	-	c.1973C>A	c.(1972-1974)TCT>TAT	p.S658Y	KIAA0564_uc001uyk.1_Missense_Mutation_p.S658Y	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	658						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)	5		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)												0.508621	162.207553	162.214687	59	57	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	Missense_Mutation	SNP	41283451	41283451	8492	13	G	T	T	33	33	KIAA0564	T	3	3
AKAP11	11215	broad.mit.edu	36	13	41773618	41773618	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:41773618G>T	uc001uys.1	+	c.2736G>T	c.(2734-2736)AAG>AAT	p.K912N		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	912					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)												0.277778	70.695927	75.500205	30	78	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	Missense_Mutation	SNP	41773618	41773618	450	13	G	T	T	35	35	AKAP11	T	3	3
AKAP11	11215	broad.mit.edu	36	13	41775838	41775838	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:41775838G>T	uc001uys.1	+	c.4956G>T	c.(4954-4956)GAG>GAT	p.E1652D		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1652	PKA-RII subunit binding domain.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)												0.210084	44.405272	53.669838	25	94	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	Missense_Mutation	SNP	41775838	41775838	450	13	G	T	T	33	33	AKAP11	T	3	3
TNFSF11	8600	broad.mit.edu	36	13	42078837	42078837	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:42078837G>T	uc001uyu.1	+	c.737G>T	c.(736-738)AGC>ATC	p.S246I	TNFSF11_uc001uyt.1_Missense_Mutation_p.S173I	NM_003701	NP_143026	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	246	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|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 homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation|tumor necrosis factor-mediated signaling pathway	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)								113				0.288991	156.125558	164.833933	63	155	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Missense_Mutation	SNP	42078837	42078837	16843	13	G	T	T	34	34	TNFSF11	T	3	3
EPSTI1	94240	broad.mit.edu	36	13	42398558	42398558	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:42398558C>T	uc001uyw.1	-	c.571G>A	c.(571-573)GCT>ACT	p.A191T	EPSTI1_uc001uyx.1_Missense_Mutation_p.A191T	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 isoform 1	191										ovary(1)	1		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)												0.279279	223.73609	238.326572	93	240	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	Missense_Mutation	SNP	42398558	42398558	5391	13	C	T	T	27	27	EPSTI1	T	1	1
DNAJC15	29103	broad.mit.edu	36	13	42557925	42557925	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:42557925G>T	uc001uyy.1	+	c.333G>T	c.(331-333)AAG>AAT	p.K111N		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	111	J.					integral to membrane	heat shock protein binding				0		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)												0.214724	69.622407	81.883369	35	128	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)	Missense_Mutation	SNP	42557925	42557925	4817	13	G	T	T	33	33	DNAJC15	T	3	3
CCDC122	160857	broad.mit.edu	36	13	43332176	43332176	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:43332176C>T	uc010acf.1	-	c.187G>A	c.(187-189)GCA>ACA	p.A63T		NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	63	Potential.										0		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)												0.508475	92.644706	92.648266	30	29	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)	Missense_Mutation	SNP	43332176	43332176	2878	13	C	T	T	28	28	CCDC122	T	2	2
SLC25A30	253512	broad.mit.edu	36	13	44873258	44873258	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:44873258G>T	uc001vag.1	-	c.574C>A	c.(574-576)CTC>ATC	p.L192I	SLC25A30_uc001vaf.2_Missense_Mutation_p.L48I|SLC25A30_uc001vah.1_Missense_Mutation_p.L117I	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	192					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)												0.241071	58.163175	65.020548	27	85	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	Missense_Mutation	SNP	44873258	44873258	14991	13	G	T	T	33	33	SLC25A30	T	3	3
SPERT	220082	broad.mit.edu	36	13	45174910	45174910	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45174910G>A	uc001van.1	+	c.76_splice	c.e2-1	p.H26_splice	SPERT_uc001vao.2_5'Flank	NM_152719	NP_689932			spermatid associated							cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)												0.5	139.497066	139.497066	44	44	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	Splice_Site_SNP	SNP	45174910	45174910	15551	13	G	A	A	34	34	SPERT	A	5	2
SPERT	220082	broad.mit.edu	36	13	45185562	45185562	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45185562G>A	uc001van.1	+	c.401G>A	c.(400-402)CGC>CAC	p.R134H	SPERT_uc001vao.2_Missense_Mutation_p.R98H	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	134						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)												0.630058	314.885246	317.454982	109	64	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	Missense_Mutation	SNP	45185562	45185562	15551	13	G	A	A	38	38	SPERT	A	1	1
SPERT	220082	broad.mit.edu	36	13	45186429	45186429	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45186429G>A	uc001van.1	+	c.1268G>A	c.(1267-1269)CGC>CAC	p.R423H	SPERT_uc001vao.2_Missense_Mutation_p.R387H	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	423						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)												0.472222	47.970413	47.99468	17	19	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	Missense_Mutation	SNP	45186429	45186429	15551	13	G	A	A	38	38	SPERT	A	1	1
ZC3H13	23091	broad.mit.edu	36	13	45457616	45457616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45457616G>A	uc001vas.1	-	c.1537C>T	c.(1537-1539)CGA>TGA	p.R513*	ZC3H13_uc001vat.1_Nonsense_Mutation_p.R513*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	513	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)				Esophageal Squamous(187;747 2077 11056 31291 44172)								0.241803	130.916167	145.748153	59	185	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	Nonsense_Mutation	SNP	45457616	45457616	18153	13	G	A	A	37	37	ZC3H13	A	5	1
ZC3H13	23091	broad.mit.edu	36	13	45517600	45517600	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45517600G>A	uc001vas.1	-	c.44C>T	c.(43-45)ACT>ATT	p.T15I	ZC3H13_uc001vat.1_Missense_Mutation_p.T15I	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	15							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)				Esophageal Squamous(187;747 2077 11056 31291 44172)								0.317829	321.772841	333.198156	123	264	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	Missense_Mutation	SNP	45517600	45517600	18153	13	G	A	A	36	36	ZC3H13	A	2	2
CPB2	1361	broad.mit.edu	36	13	45577081	45577081	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45577081G>A	uc001vaw.1	-	c.65C>T	c.(64-66)GCG>GTG	p.A22V	CPB2_uc001vax.1_Missense_Mutation_p.A22V	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	22					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)												0.197674	33.729002	41.047646	17	69	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	Missense_Mutation	SNP	45577081	45577081	3935	13	G	A	A	38	38	CPB2	A	1	1
LCP1	3936	broad.mit.edu	36	13	45619206	45619206	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45619206G>T	uc001vaz.2	-	c.1012C>A	c.(1012-1014)CTG>ATG	p.L338M	LCP1_uc001vay.2_5'Flank|LCP1_uc001vba.2_Missense_Mutation_p.L338M	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	338	CH 2.|Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			ovary(2)	2		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)								600				0.235294	46.455118	51.903871	20	65	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	Missense_Mutation	SNP	45619206	45619206	9015	13	G	T	T	34	34	LCP1	T	3	3
LCP1	3936	broad.mit.edu	36	13	45623214	45623214	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45623214G>T	uc001vaz.2	-	c.740C>A	c.(739-741)GCT>GAT	p.A247D	LCP1_uc001vba.2_Missense_Mutation_p.A247D	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	247	Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			ovary(2)	2		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)								600				0.340909	79.61652	81.588131	30	58	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	Missense_Mutation	SNP	45623214	45623214	9015	13	G	T	T	34	34	LCP1	T	3	3
LRCH1	23143	broad.mit.edu	36	13	46177214	46177214	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:46177214G>T	uc001vbk.1	+	c.1411G>T	c.(1411-1413)GAT>TAT	p.D471Y	LRCH1_uc010acp.1_Missense_Mutation_p.D471Y|LRCH1_uc001vbj.1_Missense_Mutation_p.D471Y|LRCH1_uc001vbl.2_Missense_Mutation_p.D471Y	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	471										ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)												0.282828	130.202464	138.601227	56	142	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	Missense_Mutation	SNP	46177214	46177214	9305	13	G	T	T	33	33	LRCH1	T	3	3
LRCH1	23143	broad.mit.edu	36	13	46206085	46206085	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:46206085G>A	uc001vbk.1	+	c.2036G>A	c.(2035-2037)AGA>AAA	p.R679K	LRCH1_uc001vbj.1_Missense_Mutation_p.R644K|LRCH1_uc001vbl.2_Missense_Mutation_p.R644K	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	644	CH.									ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)												0.538462	112.727613	112.810974	35	30	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	Missense_Mutation	SNP	46206085	46206085	9305	13	G	A	A	33	33	LRCH1	A	2	2
SUCLA2	8803	broad.mit.edu	36	13	47469097	47469097	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:47469097C>T	uc001vbs.1	-	c.153G>A	c.(151-153)AGG>AGA	p.R51R	SUCLA2_uc001vbt.1_Non-coding_Transcript|SUCLA2_uc001vbu.1_Silent_p.R51R	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	51					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)	1		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)			Succinic acid(DB00139)									0.253165	92.723552	101.473005	40	118	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(144;2.1e-06)	Silent	SNP	47469097	47469097	15883	13	C	T	T	30	30	SUCLA2	T	2	2
MED4	29079	broad.mit.edu	36	13	47558425	47558425	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:47558425T>G	uc001vbx.1	-	c.357A>C	c.(355-357)CAA>CAC	p.Q119H	MED4_uc001vby.1_Missense_Mutation_p.Q119H	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	119	Potential.				androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)	1		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)				Pancreas(38;399 1016 9170 13426 20145)								0.279863	249.23819	261.99537	82	211	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(144;5.18e-07)	Missense_Mutation	SNP	47558425	47558425	9839	13	T	G	G	64	64	MED4	G	4	4
RB1	5925	broad.mit.edu	36	13	47820000	47820000	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:47820000C>T	uc001vcb.1	+	c.539C>T	c.(538-540)TCG>TTG	p.S180L	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	180					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|transcription repressor activity|ubiquitin protein ligase binding	p.0?(13)|p.?(2)		lung(93)|eye(89)|central_nervous_system(47)|bone(22)|breast(20)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|soft_tissue(8)|prostate(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	355		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)			Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			6		568	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0.587302	111.682812	112.102256	37	26	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Missense_Mutation	SNP	47820000	47820000	13559	13	C	T	T	31	31	RB1	T	1	1
FNDC3A	22862	broad.mit.edu	36	13	48603295	48603295	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:48603295C>T	uc001vcm.1	+	c.274C>T	c.(274-276)CGA>TGA	p.R92*	FNDC3A_uc001vcl.1_Nonsense_Mutation_p.R92*|FNDC3A_uc001vcn.1_Nonsense_Mutation_p.R92*|FNDC3A_uc001vco.1_Non-coding_Transcript|FNDC3A_uc001vcp.1_Nonsense_Mutation_p.R36*|FNDC3A_uc001vcq.1_Nonsense_Mutation_p.R36*	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	92	Pro-rich.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)												0.310811	116.591017	121.311834	46	102	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	Nonsense_Mutation	SNP	48603295	48603295	6211	13	C	T	T	31	31	FNDC3A	T	5	1
FNDC3A	22862	broad.mit.edu	36	13	48603409	48603409	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:48603409C>T	uc001vcm.1	+	c.388C>T	c.(388-390)CCG>TCG	p.P130S	FNDC3A_uc001vcl.1_Missense_Mutation_p.P130S|FNDC3A_uc001vcn.1_Missense_Mutation_p.P130S|FNDC3A_uc001vco.1_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.P74S|FNDC3A_uc001vcq.1_Missense_Mutation_p.P74S	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	130	Pro-rich.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)												0.535433	397.177559	397.452091	136	118	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	Missense_Mutation	SNP	48603409	48603409	6211	13	C	T	T	26	26	FNDC3A	T	2	2
CDADC1	81602	broad.mit.edu	36	13	48752672	48752672	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:48752672G>T	uc001vcu.1	+	c.1247G>T	c.(1246-1248)AGA>ATA	p.R416I	CDADC1_uc001vcv.1_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	416							hydrolase activity|zinc ion binding				0		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)												0.25	55.687776	61.607386	26	78	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	Missense_Mutation	SNP	48752672	48752672	3181	13	G	T	T	33	33	CDADC1	T	3	3
SETDB2	83852	broad.mit.edu	36	13	48933239	48933239	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:48933239A>G	uc001vcz.1	+	c.148A>G	c.(148-150)ATC>GTC	p.I50V	SETDB2_uc010adg.1_Missense_Mutation_p.I38V|SETDB2_uc001vcy.2_Missense_Mutation_p.I50V|SETDB2_uc010adh.1_Missense_Mutation_p.I50V|SETDB2_uc001vda.1_Missense_Mutation_p.I50V	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	CLLL8 protein	50					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)												0.274021	197.062525	209.984962	77	204	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	Missense_Mutation	SNP	48933239	48933239	14628	13	A	G	G	8	8	SETDB2	G	4	4
SETDB2	83852	broad.mit.edu	36	13	48948908	48948908	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:48948908G>T	uc001vcz.1	+	c.637G>T	c.(637-639)GAG>TAG	p.E213*	SETDB2_uc010adg.1_Nonsense_Mutation_p.E189*|SETDB2_uc001vcy.2_Nonsense_Mutation_p.E201*|SETDB2_uc010adh.1_Nonsense_Mutation_p.E201*|SETDB2_uc001vda.1_Nonsense_Mutation_p.E201*	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	CLLL8 protein	213	MBD.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)												0.29646	156.113376	164.502155	67	159	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	Nonsense_Mutation	SNP	48948908	48948908	14628	13	G	T	T	33	33	SETDB2	T	5	3
SETDB2	83852	broad.mit.edu	36	13	48953119	48953119	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:48953119G>A	uc001vcz.1	+	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q	SETDB2_uc010adg.1_Missense_Mutation_p.R329Q|SETDB2_uc001vcy.2_Missense_Mutation_p.R341Q|SETDB2_uc010adh.1_Missense_Mutation_p.R341Q|SETDB2_uc001vda.1_Missense_Mutation_p.R341Q	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	CLLL8 protein	353	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)												0.334677	216.35893	222.352122	83	165	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	Missense_Mutation	SNP	48953119	48953119	14628	13	G	A	A	37	37	SETDB2	A	1	1
RCBTB1	55213	broad.mit.edu	36	13	49038847	49038847	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:49038847G>T	uc001vde.1	-	c.185C>A	c.(184-186)ACA>AAA	p.T62K		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	62	RCC1 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)												0.593301	396.923355	398.510401	124	85	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	Missense_Mutation	SNP	49038847	49038847	13640	13	G	T	T	48	48	RCBTB1	T	3	3
FAM124A	220108	broad.mit.edu	36	13	50724235	50724235	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:50724235G>A	uc001vff.1	+	c.839G>A	c.(838-840)AGG>AAG	p.R280K	FAM124A_uc001vfe.2_Missense_Mutation_p.R244K|FAM124A_uc001vfg.1_Missense_Mutation_p.R244K	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	244										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)												0.541284	191.127374	191.288301	59	50	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;4.25e-07)	Missense_Mutation	SNP	50724235	50724235	5622	13	G	A	A	35	35	FAM124A	A	2	2
INTS6	26512	broad.mit.edu	36	13	50841085	50841085	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:50841085G>A	uc001vfk.1	-	c.2467C>T	c.(2467-2469)CCA>TCA	p.P823S	INTS6_uc001vfi.1_Missense_Mutation_p.P507S|INTS6_uc001vfj.1_Missense_Mutation_p.P810S|INTS6_uc001vfl.1_Missense_Mutation_p.P645S	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	823					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)												0.27907	147.405612	156.846472	60	155	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;7.7e-08)	Missense_Mutation	SNP	50841085	50841085	8083	13	G	A	A	42	42	INTS6	A	2	2
INTS6	26512	broad.mit.edu	36	13	50841442	50841442	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:50841442C>A	uc001vfk.1	-	c.2110G>T	c.(2110-2112)GAA>TAA	p.E704*	INTS6_uc001vfi.1_Nonsense_Mutation_p.E388*|INTS6_uc001vfj.1_Nonsense_Mutation_p.E691*|INTS6_uc001vfl.1_Nonsense_Mutation_p.E526*	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	704					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)												0.258065	50.42205	55.386439	24	69	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;7.7e-08)	Nonsense_Mutation	SNP	50841442	50841442	8083	13	C	A	A	32	32	INTS6	A	5	3
ATP7B	540	broad.mit.edu	36	13	51446288	51446288	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:51446288T>C	uc001vfw.1	-	c.1069A>G	c.(1069-1071)ACA>GCA	p.T357A	ATP7B_uc001vfx.1_Missense_Mutation_p.T357A|ATP7B_uc001vfy.1_Intron|ATP7B_uc010adv.1_Missense_Mutation_p.T357A	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	357	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)												0.202186	84.284944	99.354459	37	146	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;5.25e-08)	Missense_Mutation	SNP	51446288	51446288	1210	13	T	C	C	59	59	ATP7B	C	4	4
ATP7B	540	broad.mit.edu	36	13	51446528	51446528	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:51446528C>A	uc001vfw.1	-	c.829G>T	c.(829-831)GAA>TAA	p.E277*	ATP7B_uc001vfx.1_Nonsense_Mutation_p.E277*|ATP7B_uc001vfy.1_Intron|ATP7B_uc010adv.1_Nonsense_Mutation_p.E277*	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	277	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)												0.17801	56.038661	74.688603	34	157	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;5.25e-08)	Nonsense_Mutation	SNP	51446528	51446528	1210	13	C	A	A	32	32	ATP7B	A	5	3
UTP14C	9724	broad.mit.edu	36	13	51502667	51502667	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:51502667C>T	uc001vgb.1	+	c.1726C>T	c.(1726-1728)CCC>TCC	p.P576S	UTP14C_uc001vgc.1_Missense_Mutation_p.P576S|UTP14C_uc001vgd.1_Missense_Mutation_p.P576S|UTP14C_uc010adw.1_Missense_Mutation_p.P576S	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	576					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)												0.335821	120.430453	123.627624	45	89	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;2.3e-08)	Missense_Mutation	SNP	51502667	51502667	17661	13	C	T	T	30	30	UTP14C	T	2	2
NEK5	341676	broad.mit.edu	36	13	51584441	51584441	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:51584441G>A	uc001vge.1	-	c.276C>T	c.(274-276)ATC>ATT	p.I92I	NEK5_uc001vgf.1_Silent_p.I92I	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	92	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity				0		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)								495				0.232394	70.094587	79.4147	33	109	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;3.7e-08)	Silent	SNP	51584441	51584441	10726	13	G	A	A	45	45	NEK5	A	2	2
NEK3	4752	broad.mit.edu	36	13	51617008	51617008	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:51617008T>G	uc001vgh.1	-	c.686A>C	c.(685-687)AAA>ACA	p.K229T	NEK3_uc001vgg.1_Missense_Mutation_p.K202T|NEK3_uc001vgi.1_Missense_Mutation_p.K208T|NEK3_uc001vgj.1_Missense_Mutation_p.K208T	NM_002498	NP_002489	P51956	NEK3_HUMAN	NIMA-related kinase 3	208	Protein kinase.				cell division|mitosis|protein phosphorylation	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)								244				0.457143	52.397474	52.453337	16	19	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;2.81e-08)	Missense_Mutation	SNP	51617008	51617008	10724	13	T	G	G	64	64	NEK3	G	4	4
CKAP2	26586	broad.mit.edu	36	13	51933839	51933839	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:51933839A>C	uc001vgv.2	+	c.880A>C	c.(880-882)AAA>CAA	p.K294Q	CKAP2_uc001vgt.2_Missense_Mutation_p.K293Q|CKAP2_uc001vgu.2_Missense_Mutation_p.K293Q	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	294					apoptosis|cell cycle	cytoplasm|microtubule|spindle pole				ovary(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)												0.321918	144.179157	148.288094	47	99	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;2.6e-08)	Missense_Mutation	SNP	51933839	51933839	3578	13	A	C	C	1	1	CKAP2	C	4	4
CKAP2	26586	broad.mit.edu	36	13	51947111	51947111	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:51947111G>A	uc001vgv.2	+	c.1886G>A	c.(1885-1887)CGA>CAA	p.R629Q	CKAP2_uc001vgu.2_Missense_Mutation_p.R628Q	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	629					apoptosis|cell cycle	cytoplasm|microtubule|spindle pole				ovary(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)												0.273885	102.851569	110.088663	43	114	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;2.6e-08)	Missense_Mutation	SNP	51947111	51947111	3578	13	G	A	A	37	37	CKAP2	A	1	1
HNRNPA1L2	144983	broad.mit.edu	36	13	52115584	52115584	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:52115584G>T	uc001vgx.1	+	c.956G>T	c.(955-957)AGA>ATA	p.R319I	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.R319I|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.R319I|HNRNPA1L2_uc010aeb.1_Missense_Mutation_p.R319I	NM_001011724	NP_001011725	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	319					mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0														0.644068	107.75036	108.82582	38	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52115584	52115584	7550	13	G	T	T	33	33	HNRNPA1L2	T	3	3
OLFM4	10562	broad.mit.edu	36	13	52501006	52501006	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:52501006C>A	uc001vhl.1	+	c.34C>A	c.(34-36)CTG>ATG	p.L12M	OLFM4_uc001vhk.1_Missense_Mutation_p.L12M	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	12					cell adhesion	extracellular space					0		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)								717				0.241791	165.232324	185.680374	81	254	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;3.13e-08)	Missense_Mutation	SNP	52501006	52501006	11260	13	C	A	A	32	32	OLFM4	A	3	3
PCDH17	27253	broad.mit.edu	36	13	57105578	57105578	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:57105578G>T	uc001vhq.1	+	c.897G>T	c.(895-897)AAG>AAT	p.K299N	PCDH17_uc010aec.1_Missense_Mutation_p.K299N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	299	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)				Melanoma(72;952 1291 1619 12849 33676)								0.366972	97.22295	98.936708	40	69	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;1.06e-05)	Missense_Mutation	SNP	57105578	57105578	11932	13	G	T	T	33	33	PCDH17	T	3	3
DIAPH3	81624	broad.mit.edu	36	13	59482791	59482791	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:59482791C>A	uc001vht.1	-	c.785G>T	c.(784-786)AGA>ATA	p.R262I	DIAPH3_uc001vhu.1_5'UTR|DIAPH3_uc001vhw.1_Missense_Mutation_p.R251I|DIAPH3_uc010aed.1_Missense_Mutation_p.R216I|DIAPH3_uc010aee.1_Missense_Mutation_p.R192I	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	262	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)												0.301887	34.873478	36.735761	16	37	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;2.77e-05)	Missense_Mutation	SNP	59482791	59482791	4699	13	C	A	A	32	32	DIAPH3	A	3	3
TDRD3	81550	broad.mit.edu	36	13	59932669	59932669	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:59932669A>C	uc010aeg.1	+	c.347A>C	c.(346-348)AAA>ACA	p.K116T	TDRD3_uc010aef.1_5'UTR|TDRD3_uc001vhz.2_Missense_Mutation_p.K23T|TDRD3_uc001via.1_Missense_Mutation_p.K23T|TDRD3_uc001vib.2_Missense_Mutation_p.K23T	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	23					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity				0		Prostate(109;0.173)|Breast(118;0.174)				Colon(36;164 906 35820 50723)								0.280992	104.705199	109.916964	34	87	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000291)	Missense_Mutation	SNP	59932669	59932669	16259	13	A	C	C	1	1	TDRD3	C	4	4
TDRD3	81550	broad.mit.edu	36	13	60000987	60000987	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:60000987C>T	uc010aeg.1	+	c.1627C>T	c.(1627-1629)CCT>TCT	p.P543S	TDRD3_uc010aef.1_Missense_Mutation_p.P275S|TDRD3_uc001vhz.2_Missense_Mutation_p.P450S|TDRD3_uc001via.1_Missense_Mutation_p.P450S|TDRD3_uc001vib.2_Missense_Mutation_p.P449S	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	450					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity				0		Prostate(109;0.173)|Breast(118;0.174)				Colon(36;164 906 35820 50723)								0.489051	197.410793	197.425357	67	70	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000291)	Missense_Mutation	SNP	60000987	60000987	16259	13	C	T	T	30	30	TDRD3	T	2	2
TDRD3	81550	broad.mit.edu	36	13	60001096	60001096	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:60001096G>A	uc010aeg.1	+	c.1736G>A	c.(1735-1737)CGA>CAA	p.R579Q	TDRD3_uc010aef.1_Missense_Mutation_p.R311Q|TDRD3_uc001vhz.2_Missense_Mutation_p.R486Q|TDRD3_uc001via.1_Missense_Mutation_p.R486Q|TDRD3_uc001vib.2_Missense_Mutation_p.R485Q	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	486					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity				0		Prostate(109;0.173)|Breast(118;0.174)				Colon(36;164 906 35820 50723)								0.268817	59.233107	63.720212	25	68	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000291)	Missense_Mutation	SNP	60001096	60001096	16259	13	G	A	A	37	37	TDRD3	A	1	1
PCDH20	64881	broad.mit.edu	36	13	60883411	60883411	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:60883411C>T	uc001vid.2	-	c.2822G>A	c.(2821-2823)CGA>CAA	p.R941Q	PCDH20_uc001vie.1_Missense_Mutation_p.R914Q	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	914	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)												0.393701	136.022574	137.278151	50	77	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000118)	Missense_Mutation	SNP	60883411	60883411	11935	13	C	T	T	31	31	PCDH20	T	1	1
PCDH20	64881	broad.mit.edu	36	13	60884421	60884421	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:60884421C>A	uc001vid.2	-	c.1812G>T	c.(1810-1812)AAG>AAT	p.K604N	PCDH20_uc001vie.1_Missense_Mutation_p.K577N	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	577	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)												0.248447	91.816686	101.089596	40	121	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000118)	Missense_Mutation	SNP	60884421	60884421	11935	13	C	A	A	20	20	PCDH20	A	3	3
PCDH20	64881	broad.mit.edu	36	13	60885073	60885073	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:60885073C>T	uc001vid.2	-	c.1160G>A	c.(1159-1161)GGA>GAA	p.G387E	PCDH20_uc001vie.1_Missense_Mutation_p.G360E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	360	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)												0.275362	139.776927	149.18955	57	150	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000118)	Missense_Mutation	SNP	60885073	60885073	11935	13	C	T	T	30	30	PCDH20	T	2	2
KLHL1	57626	broad.mit.edu	36	13	69212540	69212540	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:69212540C>A	uc001vip.1	-	c.1789G>T	c.(1789-1791)GCA>TCA	p.A597S		NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	597	Kelch 3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)												0.333333	85.564564	87.927942	32	64	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	Missense_Mutation	SNP	69212540	69212540	8677	13	C	A	A	28	28	KLHL1	A	3	3
DACH1	1602	broad.mit.edu	36	13	71338067	71338067	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:71338067C>T	uc010aek.1	-	c.836G>A	c.(835-837)TGC>TAC	p.C279Y	DACH1_uc010ael.1_Missense_Mutation_p.C279Y|DACH1_uc010aem.1_Missense_Mutation_p.C279Y	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	279	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)								202				0.275	44.314441	47.965663	22	58	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.00032)	Missense_Mutation	SNP	71338067	71338067	4386	13	C	T	T	25	25	DACH1	T	2	2
C13orf34	79866	broad.mit.edu	36	13	72217294	72217294	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:72217294C>T	uc010aen.1	+	c.911C>T	c.(910-912)TCA>TTA	p.S304L	C13orf34_uc001viv.1_Missense_Mutation_p.S229L|C13orf34_uc001viw.1_Missense_Mutation_p.S178L	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	229	Ser-rich.				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)												0.275556	140.43077	150.653051	62	163	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000227)	Missense_Mutation	SNP	72217294	72217294	1775	13	C	T	T	29	29	C13orf34	T	2	2
PIBF1	10464	broad.mit.edu	36	13	72267549	72267549	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:72267549G>T	uc001vjc.1	+	c.405G>T	c.(403-405)CAG>CAT	p.Q135H	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.2_Missense_Mutation_p.Q135H|PIBF1_uc010aep.1_Intron|PIBF1_uc001vja.1_Missense_Mutation_p.Q135H	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	135										ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)												0.194444	38.001743	47.420935	21	87	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000664)	Missense_Mutation	SNP	72267549	72267549	12303	13	G	T	T	33	33	PIBF1	T	3	3
TBC1D4	9882	broad.mit.edu	36	13	74759110	74759110	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:74759110G>A	uc001vjl.1	-	c.3716C>T	c.(3715-3717)ACG>ATG	p.T1239M	TBC1D4_uc010aer.1_Missense_Mutation_p.T650M	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1239						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)	5		Prostate(6;0.014)|Breast(118;0.0982)												0.201878	86.399416	103.996302	43	170	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0116)	Missense_Mutation	SNP	74759110	74759110	16148	13	G	A	A	40	40	TBC1D4	A	1	1
KCTD12	115207	broad.mit.edu	36	13	76357451	76357451	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:76357451C>T	uc010aeu.1	-	c.834G>A	c.(832-834)GAG>GAA	p.E278E	KCTD12_uc001vka.1_Silent_p.E278E	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	potassium channel tetramerisation domain	278						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(1)	1		Breast(118;0.212)										OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.595238	73.775863	74.109481	25	17	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0499)	Silent	SNP	76357451	76357451	8405	13	C	T	T	28	28	KCTD12	T	2	2
CLN5	1203	broad.mit.edu	36	13	76468237	76468237	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:76468237C>A	uc001vkc.1	+	c.686C>A	c.(685-687)ACA>AAA	p.T229K		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	180					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)												0.293578	162.500597	170.823522	64	154	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0503)	Missense_Mutation	SNP	76468237	76468237	3682	13	C	A	A	17	17	CLN5	A	3	3
CLN5	1203	broad.mit.edu	36	13	76472809	76472809	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:76472809C>T	uc001vkc.1	+	c.928C>T	c.(928-930)CTT>TTT	p.L310F		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	261					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)												0.282609	99.857204	105.722521	39	99	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0503)	Missense_Mutation	SNP	76472809	76472809	3682	13	C	T	T	32	32	CLN5	T	2	2
MYCBP2	23077	broad.mit.edu	36	13	76527852	76527852	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:76527852G>A	uc001vkf.1	-	c.13375C>T	c.(13375-13377)CTC>TTC	p.L4459F	MYCBP2_uc001vke.1_Missense_Mutation_p.L1076F|MYCBP2_uc010aev.1_Missense_Mutation_p.L3863F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4459					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)												0.108434	7.812095	20.427823	9	74	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.109)	Missense_Mutation	SNP	76527852	76527852	10413	13	G	A	A	36	36	MYCBP2	A	2	2
MYCBP2	23077	broad.mit.edu	36	13	76530502	76530502	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:76530502C>T	uc001vkf.1	-	c.13067G>A	c.(13066-13068)GGC>GAC	p.G4356D	MYCBP2_uc001vke.1_Missense_Mutation_p.G973D|MYCBP2_uc010aev.1_Missense_Mutation_p.G3760D	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4356					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)												0.495935	176.840517	176.842498	61	62	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.109)	Missense_Mutation	SNP	76530502	76530502	10413	13	C	T	T	26	26	MYCBP2	T	2	2
MYCBP2	23077	broad.mit.edu	36	13	76622870	76622870	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:76622870C>A	uc001vkf.1	-	c.7017G>T	c.(7015-7017)AAG>AAT	p.K2339N	MYCBP2_uc010aev.1_Missense_Mutation_p.K1743N	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2339	Filamin.				regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)												0.201087	72.159739	87.453989	37	147	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.109)	Missense_Mutation	SNP	76622870	76622870	10413	13	C	A	A	24	24	MYCBP2	A	3	3
MYCBP2	23077	broad.mit.edu	36	13	76623050	76623050	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:76623050T>G	uc001vkf.1	-	c.6837A>C	c.(6835-6837)AAA>AAC	p.K2279N	MYCBP2_uc010aev.1_Missense_Mutation_p.K1683N	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2279					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)												0.259259	139.097983	149.011545	49	140	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.109)	Missense_Mutation	SNP	76623050	76623050	10413	13	T	G	G	64	64	MYCBP2	G	4	4
MYCBP2	23077	broad.mit.edu	36	13	76653900	76653900	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:76653900C>A	uc001vkf.1	-	c.4764G>T	c.(4762-4764)GAG>GAT	p.E1588D	MYCBP2_uc010aev.1_Missense_Mutation_p.E992D	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1588					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)												0.267327	122.442905	132.33145	54	148	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.109)	Missense_Mutation	SNP	76653900	76653900	10413	13	C	A	A	32	32	MYCBP2	A	3	3
MYCBP2	23077	broad.mit.edu	36	13	76662453	76662453	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:76662453C>T	uc001vkf.1	-	c.3975G>A	c.(3973-3975)AAG>AAA	p.K1325K	MYCBP2_uc010aev.1_Silent_p.K729K	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1325					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)												0.252101	77.489997	84.134064	30	89	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.109)	Silent	SNP	76662453	76662453	10413	13	C	T	T	32	32	MYCBP2	T	2	2
POU4F1	5457	broad.mit.edu	36	13	78073566	78073566	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:78073566G>T	uc001vkv.1	-	c.1245C>A	c.(1243-1245)TTC>TTA	p.F415L		NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	415	Homeobox.				axonogenesis|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)				Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)								0.516854	125.142408	125.164283	46	43	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.129)	Missense_Mutation	SNP	78073566	78073566	12708	13	G	T	T	33	33	POU4F1	T	3	3
RNF219	79596	broad.mit.edu	36	13	78087833	78087833	+	Silent	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:78087833A>T	uc001vkw.1	-	c.2064T>A	c.(2062-2064)TCT>TCA	p.S688S	RNF219_uc010afb.1_Silent_p.S498S|RNF219_uc010afc.1_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	688	Ser-rich.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)												0.276753	175.398458	187.563688	75	196	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0414)	Silent	SNP	78087833	78087833	13960	13	A	T	T	11	11	RNF219	T	4	4
RBM26	64062	broad.mit.edu	36	13	78813285	78813285	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:78813285T>G	uc001vkz.1	-	c.2512A>C	c.(2512-2514)AGA>CGA	p.R838R	RBM26_uc001vkx.1_Silent_p.R548R|RBM26_uc001vky.1_Silent_p.R809R|RBM26_uc001vla.1_Silent_p.R812R	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	836	Potential.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)												0.2	43.440393	51.813875	20	80	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0188)	Silent	SNP	78813285	78813285	13588	13	T	G	G	54	54	RBM26	G	4	4
SPRY2	10253	broad.mit.edu	36	13	79809110	79809110	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:79809110G>T	uc001vli.1	-	c.732C>A	c.(730-732)TGC>TGA	p.C244*	SPRY2_uc001vlj.1_Nonsense_Mutation_p.C244*|SPRY2_uc010afd.1_Nonsense_Mutation_p.C244*	NM_005842	NP_005833	O43597	SPY2_HUMAN	sprouty 2	244	SPR.|Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			ovary(1)	1	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)								29				0.468085	126.786194	126.869965	44	50	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0318)	Nonsense_Mutation	SNP	79809110	79809110	15620	13	G	T	T	46	46	SPRY2	T	5	3
SPRY2	10253	broad.mit.edu	36	13	79809717	79809717	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:79809717G>T	uc001vli.1	-	c.125C>A	c.(124-126)TCT>TAT	p.S42Y	SPRY2_uc001vlj.1_Missense_Mutation_p.S42Y|SPRY2_uc010afd.1_Missense_Mutation_p.S42Y	NM_005842	NP_005833	O43597	SPY2_HUMAN	sprouty 2	42					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			ovary(1)	1	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)								29				0.242105	94.946635	106.482348	46	144	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0318)	Missense_Mutation	SNP	79809717	79809717	15620	13	G	T	T	33	33	SPRY2	T	3	3
SLITRK5	26050	broad.mit.edu	36	13	87125785	87125785	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:87125785C>A	uc001vln.1	+	c.141C>A	c.(139-141)ATC>ATA	p.I47I	SLITRK5_uc010afg.1_Silent_p.I47I	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	47	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.234783	111.511446	126.331957	54	176	CC		KEEP	---	---	---	---	capture			Silent	SNP	87125785	87125785	15244	13	C	A	A	32	32	SLITRK5	A	3	3
GPC5	2262	broad.mit.edu	36	13	90899074	90899074	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:90899074G>T	uc001vls.1	+	c.222G>T	c.(220-222)GAG>GAT	p.E74D		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5	74						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)	2	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)												0.570652	303.37635	304.175278	105	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90899074	90899074	6875	13	G	T	T	35	35	GPC5	T	3	3
TGDS	23483	broad.mit.edu	36	13	94041123	94041123	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:94041123C>T	uc001vlw.1	-	c.298G>A	c.(298-300)GCA>ACA	p.A100T	TGDS_uc001vlx.1_Intron	NM_014305	NP_055120	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	100					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)													0.110092	17.338869	50.148885	24	194	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94041123	94041123	16342	13	C	T	T	27	27	TGDS	T	1	1
GPR180	160897	broad.mit.edu	36	13	94076223	94076223	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:94076223C>T	uc001vly.1	+	c.1089C>T	c.(1087-1089)GGC>GGT	p.G363G	GPR180_uc001vlz.1_Silent_p.G262G|GPR180_uc010afi.1_Silent_p.G124G	NM_180989	NP_851320	Q86V85	GP180_HUMAN	G protein-coupled receptor 180 precursor	363	Helical; (Potential).					integral to membrane				breast(1)	1	all_neural(89;0.0684)|Medulloblastoma(90;0.163)													0.268293	77.609669	83.579232	33	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	94076223	94076223	6951	13	C	T	T	28	28	GPR180	T	2	2
ABCC4	10257	broad.mit.edu	36	13	94493935	94493935	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:94493935A>G	uc001vmd.2	-	c.3735_splice	c.e29+1	p.M1245_splice	ABCC4_uc010afj.1_Intron|ABCC4_uc010afk.1_Splice_Site_SNP_p.M1198_splice	NM_005845	NP_005836			ATP-binding cassette, sub-family C, member 4						platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)	3	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)					1222				0.636364	256.718495	258.876711	84	48	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	94493935	94493935	56	13	A	G	G	6	6	ABCC4	G	5	4
DZIP1	22873	broad.mit.edu	36	13	95036341	95036341	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:95036341G>A	uc001vmk.1	-	c.2269C>T	c.(2269-2271)CGC>TGC	p.R757C	DZIP1_uc001vmi.1_Missense_Mutation_p.R5C|DZIP1_uc001vmj.1_Missense_Mutation_p.R233C|DZIP1_uc001vml.1_Missense_Mutation_p.R738C|DZIP1_uc001vmm.2_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	757					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)													0.224299	52.443317	59.919581	24	83	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.141)		Missense_Mutation	SNP	95036341	95036341	5049	13	G	A	A	37	37	DZIP1	A	1	1
DZIP1	22873	broad.mit.edu	36	13	95049664	95049664	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:95049664G>A	uc001vmk.1	-	c.1493C>T	c.(1492-1494)TCG>TTG	p.S498L	DZIP1_uc001vmj.1_5'UTR|DZIP1_uc001vml.1_Missense_Mutation_p.S479L	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	498					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)													0.254386	68.91693	75.161036	29	85	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.141)		Missense_Mutation	SNP	95049664	95049664	5049	13	G	A	A	37	37	DZIP1	A	1	1
DNAJC3	5611	broad.mit.edu	36	13	95207898	95207898	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:95207898G>A	uc001vmq.1	+	c.394_splice	c.e5-1	p.L132_splice	DNAJC3_uc001vmr.1_Intron	NM_006260	NP_006251			DnaJ (Hsp40) homolog, subfamily C, member 3						protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)													0.278481	60.314094	63.802362	22	57	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.126)		Splice_Site_SNP	SNP	95207898	95207898	4830	13	G	A	A	34	34	DNAJC3	A	5	2
DNAJC3	5611	broad.mit.edu	36	13	95236308	95236308	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:95236308A>C	uc001vmq.1	+	c.1190A>C	c.(1189-1191)AAA>ACA	p.K397T	DNAJC3_uc001vmr.1_Missense_Mutation_p.K346T	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	397	J.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)													0.236842	52.015981	56.822433	18	58	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.126)		Missense_Mutation	SNP	95236308	95236308	4830	13	A	C	C	1	1	DNAJC3	C	4	4
DNAJC3	5611	broad.mit.edu	36	13	95237297	95237297	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:95237297G>A	uc001vmq.1	+	c.1244G>A	c.(1243-1245)CGA>CAA	p.R415Q	DNAJC3_uc001vmr.1_Missense_Mutation_p.R364Q	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	415	J.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)													0.302158	102.67145	107.546082	42	97	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.126)		Missense_Mutation	SNP	95237297	95237297	4830	13	G	A	A	37	37	DNAJC3	A	1	1
UGGT2	55757	broad.mit.edu	36	13	95313883	95313883	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:95313883C>A	uc001vmt.1	-	c.3644_splice	c.e31+1	p.S1215_splice		NM_020121	NP_064506			UDP-glucose ceramide glucosyltransferase-like 2						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3														0.228723	105.123168	117.815577	43	145	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	95313883	95313883	17500	13	C	A	A	18	18	UGGT2	A	5	3
OXGR1	27199	broad.mit.edu	36	13	96437276	96437276	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:96437276G>A	uc001vmx.1	-	c.739C>T	c.(739-741)CTC>TTC	p.L247F	OXGR1_uc010afr.1_Missense_Mutation_p.L247F|OXGR1_uc010afs.1_Missense_Mutation_p.L247F	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	247	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)													0.605263	216.388989	217.4926	69	45	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.186)		Missense_Mutation	SNP	96437276	96437276	11745	13	G	A	A	36	36	OXGR1	A	2	2
MBNL2	10150	broad.mit.edu	36	13	96793279	96793279	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:96793279C>A	uc010aft.1	+	c.348C>A	c.(346-348)TTC>TTA	p.F116L	MBNL2_uc001vmz.1_Missense_Mutation_p.F116L|MBNL2_uc001vna.1_Missense_Mutation_p.F116L|MBNL2_uc001vnb.1_Non-coding_Transcript	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	116					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.310345	86.750153	90.471128	36	80	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.218)		Missense_Mutation	SNP	96793279	96793279	9742	13	C	A	A	30	30	MBNL2	A	3	3
MBNL2	10150	broad.mit.edu	36	13	96797162	96797162	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:96797162T>G	uc010aft.1	+	c.644T>G	c.(643-645)GTA>GGA	p.V215G	MBNL2_uc001vmz.1_Missense_Mutation_p.V215G|MBNL2_uc001vna.1_Missense_Mutation_p.V215G|MBNL2_uc001vnb.1_Non-coding_Transcript|MBNL2_uc001vnc.2_5'Flank	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	215	C3H1-type 4.				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.19375	80.955972	94.938823	31	129	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.218)		Missense_Mutation	SNP	96797162	96797162	9742	13	T	G	G	57	57	MBNL2	G	4	4
IPO5	3843	broad.mit.edu	36	13	97450826	97450826	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:97450826G>A	uc001vne.1	+	c.1088G>A	c.(1087-1089)CGA>CAA	p.R363Q	IPO5_uc001vnf.1_Missense_Mutation_p.R345Q|IPO5_uc001vng.1_5'Flank	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	345	Ran-GTP binding (By similarity).				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)	2														0.213115	53.58313	62.862621	26	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97450826	97450826	8097	13	G	A	A	37	37	IPO5	A	1	1
IPO5	3843	broad.mit.edu	36	13	97464412	97464412	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:97464412C>A	uc001vne.1	+	c.2322C>A	c.(2320-2322)GCC>GCA	p.A774A		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	756					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)	2														0.593909	351.992424	353.507809	117	80	CC		KEEP	---	---	---	---	capture			Silent	SNP	97464412	97464412	8097	13	C	A	A	21	21	IPO5	A	3	3
IPO5	3843	broad.mit.edu	36	13	97468757	97468757	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:97468757G>T	uc001vne.1	+	c.2688G>T	c.(2686-2688)TGG>TGT	p.W896C		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	878	HEAT 4.				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)	2														0.254545	128.294721	140.32499	56	164	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97468757	97468757	8097	13	G	T	T	42	42	IPO5	T	3	3
RNF113B	140432	broad.mit.edu	36	13	97627194	97627194	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:97627194C>T	uc001vnk.1	-	c.298G>A	c.(298-300)GCG>ACG	p.A100T	FARP1_uc001vnh.1_Intron|FARP1_uc001vni.1_Intron|FARP1_uc001vnj.1_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	100							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.337209	75.440662	77.460254	29	57	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.13)		Missense_Mutation	SNP	97627194	97627194	13905	13	C	T	T	26	26	RNF113B	T	2	2
FARP1	10160	broad.mit.edu	36	13	97663535	97663535	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:97663535G>A	uc001vnh.1	+	c.38G>A	c.(37-39)CGA>CAA	p.R13Q	FARP1_uc001vni.1_Missense_Mutation_p.R13Q|FARP1_uc001vnj.1_Missense_Mutation_p.R13Q	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	13					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.58457	576.38488	578.485386	197	140	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.233)		Missense_Mutation	SNP	97663535	97663535	5912	13	G	A	A	37	37	FARP1	A	1	1
STK24	8428	broad.mit.edu	36	13	97912093	97912093	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:97912093C>T	uc001vnm.1	-	c.1025G>A	c.(1024-1026)CGA>CAA	p.R342Q	STK24_uc001vnn.1_Missense_Mutation_p.R330Q	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	342					cellular component disassembly involved in apoptosis|protein phosphorylation|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)													0.585492	337.112194	338.352425	113	80	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.233)		Missense_Mutation	SNP	97912093	97912093	15813	13	C	T	T	31	31	STK24	T	1	1
SLC15A1	6564	broad.mit.edu	36	13	98137881	98137881	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:98137881G>A	uc001vno.1	-	c.1782C>T	c.(1780-1782)GGC>GGT	p.G594G		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	594	Helical; (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)									0.324468	150.200769	155.34661	61	127	GG		KEEP	---	---	---	---	capture			Silent	SNP	98137881	98137881	14893	13	G	A	A	38	38	SLC15A1	A	1	1
DOCK9	23348	broad.mit.edu	36	13	98330202	98330202	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:98330202A>G	uc001vnt.1	-	c.2897T>C	c.(2896-2898)GTA>GCA	p.V966A	DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc001vnw.1_Missense_Mutation_p.V965A|DOCK9_uc010afu.1_Missense_Mutation_p.V812A	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	966					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.278481	65.02281	68.505537	22	57	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98330202	98330202	4878	13	A	G	G	14	14	DOCK9	G	4	4
DOCK9	23348	broad.mit.edu	36	13	98352735	98352735	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:98352735G>T	uc001vnt.1	-	c.1191C>A	c.(1189-1191)TTC>TTA	p.F397L	DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc001vnw.1_Missense_Mutation_p.F396L|DOCK9_uc010afu.1_Missense_Mutation_p.F212L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	397					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.209302	16.947116	20.315187	9	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98352735	98352735	4878	13	G	T	T	33	33	DOCK9	T	3	3
GPR18	2841	broad.mit.edu	36	13	98705926	98705926	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:98705926C>A	uc001voe.2	-	c.202G>T	c.(202-204)GAC>TAC	p.D68Y	UBAC2_uc001vnz.2_Intron|UBAC2_uc001voa.2_Intron|UBAC2_uc001vob.2_Intron|UBAC2_uc001voc.1_Intron|UBAC2_uc001vod.1_Intron|GPR18_uc010afv.1_Missense_Mutation_p.D68Y|GPR18_uc010afw.1_Missense_Mutation_p.D68Y	NM_005292	NP_005283	Q14330	GPR18_HUMAN	G protein-coupled receptor 18	68	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)									0.302158	100.386479	105.250637	42	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98705926	98705926	6950	13	C	A	A	30	30	GPR18	A	3	3
TM9SF2	9375	broad.mit.edu	36	13	98967936	98967936	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:98967936C>T	uc001voj.1	+	c.239C>T	c.(238-240)GCG>GTG	p.A80V	TM9SF2_uc010afz.1_Missense_Mutation_p.A80V	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	80	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)													0.468354	106.468095	106.536823	37	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98967936	98967936	16508	13	C	T	T	27	27	TM9SF2	T	1	1
TM9SF2	9375	broad.mit.edu	36	13	99004561	99004561	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:99004561C>T	uc001voj.1	+	c.1491C>T	c.(1489-1491)GCC>GCT	p.A497A	TM9SF2_uc010afz.1_Silent_p.A332A	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	497	Cytoplasmic (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)													0.488584	339.411373	339.436427	107	112	CC		KEEP	---	---	---	---	capture			Silent	SNP	99004561	99004561	16508	13	C	T	T	21	21	TM9SF2	T	2	2
TM9SF2	9375	broad.mit.edu	36	13	99004624	99004624	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:99004624G>A	uc001voj.1	+	c.1554G>A	c.(1552-1554)ACG>ACA	p.T518T	TM9SF2_uc010afz.1_Silent_p.T353T	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	518	Cytoplasmic (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)													0.219101	82.316636	95.269887	39	139	GG		KEEP	---	---	---	---	capture			Silent	SNP	99004624	99004624	16508	13	G	A	A	37	37	TM9SF2	A	1	1
ZIC5	85416	broad.mit.edu	36	13	99415958	99415958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:99415958G>A	uc001vom.1	-	c.1666C>T	c.(1666-1668)CGA>TGA	p.R556*		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	556	C2H2-type 4.				cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.354037	148.21686	151.245188	57	104	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	99415958	99415958	18273	13	G	A	A	37	37	ZIC5	A	5	1
ZIC5	85416	broad.mit.edu	36	13	99421855	99421855	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:99421855C>T	uc001vom.1	-	c.76G>A	c.(76-78)GAG>AAG	p.E26K		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	26					cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.307692	9.89557	10.323941	4	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99421855	99421855	18273	13	C	T	T	30	30	ZIC5	T	2	2
ZIC2	7546	broad.mit.edu	36	13	99433213	99433213	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:99433213C>T	uc001von.1	+	c.894C>T	c.(892-894)AGC>AGT	p.S298S		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	298					brain development|positive regulation of sequence-specific DNA binding transcription factor activity|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					Pancreas(97;119 1522 31925 44771 48764)								0.283721	125.764369	134.816073	61	154	CC		KEEP	---	---	---	---	capture			Silent	SNP	99433213	99433213	18270	13	C	T	T	25	25	ZIC2	T	2	2
ZIC2	7546	broad.mit.edu	36	13	99435699	99435699	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:99435699C>T	uc001von.1	+	c.1361C>T	c.(1360-1362)TCC>TTC	p.S454F		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	454					brain development|positive regulation of sequence-specific DNA binding transcription factor activity|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					Pancreas(97;119 1522 31925 44771 48764)								0.652174	43.009	43.473738	15	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99435699	99435699	18270	13	C	T	T	30	30	ZIC2	T	2	2
DIO3	1735	broad.mit.edu	36	14	101097949	101097949	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101097949G>T	uc001yki.2	+	c.285G>T	c.(283-285)CAG>CAT	p.Q95H	DIO3-OS_uc001ykd.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	95	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|oxidation-reduction process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)	2		all_neural(303;0.185)												0.3125	71.405126	74.415484	30	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101097949	101097949	4705	14	G	T	T	33	33	DIO3	T	3	3
DYNC1H1	1778	broad.mit.edu	36	14	101516632	101516632	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101516632C>A	uc001yks.1	+	c.953C>A	c.(952-954)ACT>AAT	p.T318N		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	318	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.142857	11.258384	18.146651	8	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101516632	101516632	5027	14	C	A	A	20	20	DYNC1H1	A	3	3
DYNC1H1	1778	broad.mit.edu	36	14	101521886	101521886	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101521886A>G	uc001yks.1	+	c.1571A>G	c.(1570-1572)AAC>AGC	p.N524S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	524	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.831169	235.638135	243.632034	64	13	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101521886	101521886	5027	14	A	G	G	2	2	DYNC1H1	G	4	4
DYNC1H1	1778	broad.mit.edu	36	14	101522541	101522541	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101522541G>T	uc001yks.1	+	c.2226G>T	c.(2224-2226)GAG>GAT	p.E742D		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	742	Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.330097	82.604209	85.245039	34	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101522541	101522541	5027	14	G	T	T	33	33	DYNC1H1	T	3	3
DYNC1H1	1778	broad.mit.edu	36	14	101552945	101552945	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101552945C>T	uc001yks.1	+	c.7704C>T	c.(7702-7704)GTC>GTT	p.V2568V	DYNC1H1_uc001ykt.1_Silent_p.V59V	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2568	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.389831	62.01463	62.640626	23	36	CC		KEEP	---	---	---	---	capture			Silent	SNP	101552945	101552945	5027	14	C	T	T	31	31	DYNC1H1	T	1	1
DYNC1H1	1778	broad.mit.edu	36	14	101575556	101575556	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101575556G>A	uc001yks.1	+	c.11515G>A	c.(11515-11517)GTC>ATC	p.V3839I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3839					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.11	7.051104	22.113037	11	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101575556	101575556	5027	14	G	A	A	40	40	DYNC1H1	A	1	1
DYNC1H1	1778	broad.mit.edu	36	14	101584701	101584701	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101584701C>T	uc001yks.1	+	c.13314C>T	c.(13312-13314)TGC>TGT	p.C4438C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4438					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.646154	124.561629	125.785346	42	23	CC		KEEP	---	---	---	---	capture			Silent	SNP	101584701	101584701	5027	14	C	T	T	27	27	DYNC1H1	T	1	1
DYNC1H1	1778	broad.mit.edu	36	14	101586273	101586273	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101586273G>T	uc001yks.1	+	c.13797G>T	c.(13795-13797)GAG>GAT	p.E4599D		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4599					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.11236	7.279869	20.497067	10	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101586273	101586273	5027	14	G	T	T	33	33	DYNC1H1	T	3	3
TRAF3	7187	broad.mit.edu	36	14	102439475	102439475	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:102439475T>C	uc001ymc.1	+	c.1091T>C	c.(1090-1092)CTG>CCG	p.L364P	TRAF3_uc001ymd.1_Missense_Mutation_p.L364P|TRAF3_uc001yme.1_Missense_Mutation_p.L339P|TRAF3_uc001ymf.1_Missense_Mutation_p.L97P	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	364					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)												0.422222	110.238877	110.712506	38	52	TT		KEEP	---	---	---	---	capture		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	Missense_Mutation	SNP	102439475	102439475	16983	14	T	C	C	55	55	TRAF3	C	4	4
AMN	81693	broad.mit.edu	36	14	102459907	102459907	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:102459907C>T	uc001ymg.2	+	c.150C>T	c.(148-150)TTC>TTT	p.F50F	AMN_uc001ymh.2_5'UTR	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	amnionless protein precursor	50	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane					0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.44086	112.299837	112.574929	41	52	CC		KEEP	---	---	---	---	capture		Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Silent	SNP	102459907	102459907	583	14	C	T	T	30	30	AMN	T	2	2
C14orf73	91828	broad.mit.edu	36	14	102643516	102643516	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:102643516G>A	uc001ymk.1	+	c.1584G>A	c.(1582-1584)CCG>CCA	p.P528P		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	528											0		Melanoma(154;0.155)												0.236111	36.138064	40.723774	17	55	GG		KEEP	---	---	---	---	capture	Epithelial(46;0.221)		Silent	SNP	102643516	102643516	1829	14	G	A	A	38	38	C14orf73	A	1	1
BAG5	9529	broad.mit.edu	36	14	103096280	103096280	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:103096280G>A	uc001ynh.1	-	c.1098C>T	c.(1096-1098)AAC>AAT	p.N366N	BAG5_uc001yni.1_Silent_p.N325N|BAG5_uc001ynj.1_Silent_p.N325N|BAG5_uc010awt.1_Silent_p.N325N|C14orf153_uc001ynk.2_5'Flank|C14orf153_uc001ynl.2_5'Flank	NM_001015049	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform a	325	BAG 3.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			ovary(2)	2		Melanoma(154;0.155)				NSCLC(171;1832 2055 18950 31566 41632)								0.75	322.729583	330.902799	108	36	GG		KEEP	---	---	---	---	capture	Epithelial(46;0.144)		Silent	SNP	103096280	103096280	1311	14	G	A	A	44	44	BAG5	A	2	2
KLC1	3831	broad.mit.edu	36	14	103198908	103198908	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:103198908G>A	uc001yno.1	+	c.688G>A	c.(688-690)GAG>AAG	p.E230K	KLC1_uc001ynm.1_Missense_Mutation_p.E230K|KLC1_uc001ynn.1_Missense_Mutation_p.E226K	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	230	TPR 1.				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)												0.339623	45.829925	47.036872	18	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103198908	103198908	8645	14	G	A	A	37	37	KLC1	A	1	1
XRCC3	7517	broad.mit.edu	36	14	103239303	103239303	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:103239303C>T	uc001yny.2	-	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	XRCC3_uc001ynx.2_Missense_Mutation_p.R174Q|XRCC3_uc001ynz.2_Missense_Mutation_p.R174Q|XRCC3_uc001yoa.2_Missense_Mutation_p.R174Q	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	174					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)												0.5	8.824989	8.824989	3	3	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.239)	Missense_Mutation	SNP	103239303	103239303	18037	14	C	T	T	31	31	XRCC3	T	1	1
TDRD9	122402	broad.mit.edu	36	14	103530462	103530462	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:103530462C>T	uc001yom.2	+	c.1221C>T	c.(1219-1221)AGC>AGT	p.S407S	TDRD9_uc001yon.2_Silent_p.S145S|TDRD9_uc010awx.1_Silent_p.S122S	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	407	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)												0.336683	177.553039	182.253372	67	132	CC		KEEP	---	---	---	---	capture			Silent	SNP	103530462	103530462	16263	14	C	T	T	26	26	TDRD9	T	2	2
INF2	64423	broad.mit.edu	36	14	104250376	104250376	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104250376T>C	uc001ypb.2	+	c.2775_splice	c.e18+2	p.K925_splice	INF2_uc001ypc.2_Splice_Site_SNP_p.K925_splice|INF2_uc010awz.1_Splice_Site_SNP	NM_022489	NP_071934			inverted formin 2 isoform 1						actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)												0.289474	78.247189	82.841799	33	81	TT		KEEP	---	---	---	---	capture	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	Splice_Site_SNP	SNP	104250376	104250376	8035	14	T	C	C	59	59	INF2	C	5	4
INF2	64423	broad.mit.edu	36	14	104250907	104250907	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104250907C>T	uc001ypb.2	+	c.2959C>T	c.(2959-2961)CGG>TGG	p.R987W	INF2_uc001ypc.2_Missense_Mutation_p.R987W|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	987	WH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)												0.416667	12.772145	12.844956	5	7	CC		KEEP	---	---	---	---	capture	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	Missense_Mutation	SNP	104250907	104250907	8035	14	C	T	T	27	27	INF2	T	1	1
ADSSL1	122622	broad.mit.edu	36	14	104277155	104277155	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104277155G>A	uc001ype.1	+	c.562G>A	c.(562-564)GAC>AAC	p.D188N	ADSSL1_uc001ypd.1_Missense_Mutation_p.D145N|ADSSL1_uc001ypf.1_Non-coding_Transcript	NM_199165	NP_954634	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 1	145					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)			L-Aspartic Acid(DB00128)									0.78022	217.459655	224.037947	71	20	GG		KEEP	---	---	---	---	capture	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	Missense_Mutation	SNP	104277155	104277155	349	14	G	A	A	37	37	ADSSL1	A	1	1
PLD4	122618	broad.mit.edu	36	14	104466243	104466243	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104466243G>A	uc001ypu.1	+	c.397G>A	c.(397-399)GTC>ATC	p.V133I		NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	133					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)			Choline(DB00122)									0.679012	157.431394	159.736168	55	26	GG		KEEP	---	---	---	---	capture	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Missense_Mutation	SNP	104466243	104466243	12474	14	G	A	A	40	40	PLD4	A	1	1
AHNAK2	113146	broad.mit.edu	36	14	104477120	104477120	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104477120G>T	uc010axc.1	-	c.15713C>A	c.(15712-15714)TCT>TAT	p.S5238Y	AHNAK2_uc001ypx.2_Missense_Mutation_p.S5138Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5238						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.358696	416.300347	424.406886	165	295	GG		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Missense_Mutation	SNP	104477120	104477120	418	14	G	T	T	33	33	AHNAK2	T	3	3
AHNAK2	113146	broad.mit.edu	36	14	104479721	104479721	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104479721A>G	uc010axc.1	-	c.13112T>C	c.(13111-13113)GTG>GCG	p.V4371A	AHNAK2_uc001ypx.2_Missense_Mutation_p.V4271A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4371						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.74359	371.089959	379.463017	116	40	AA		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Missense_Mutation	SNP	104479721	104479721	418	14	A	G	G	6	6	AHNAK2	G	4	4
AHNAK2	113146	broad.mit.edu	36	14	104481286	104481286	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104481286A>G	uc010axc.1	-	c.11547T>C	c.(11545-11547)ACT>ACC	p.T3849T	AHNAK2_uc001ypx.2_Silent_p.T3749T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3849						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.780992	638.384416	655.995865	189	53	AA		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Silent	SNP	104481286	104481286	418	14	A	G	G	7	7	AHNAK2	G	4	4
AHNAK2	113146	broad.mit.edu	36	14	104482820	104482820	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104482820G>A	uc010axc.1	-	c.10013C>T	c.(10012-10014)GCG>GTG	p.A3338V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3238V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3338						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.753472	627.941697	644.781128	217	71	GG		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Missense_Mutation	SNP	104482820	104482820	418	14	G	A	A	38	38	AHNAK2	A	1	1
AHNAK2	113146	broad.mit.edu	36	14	104483623	104483623	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104483623C>A	uc010axc.1	-	c.9210G>T	c.(9208-9210)AAG>AAT	p.K3070N	AHNAK2_uc001ypx.2_Missense_Mutation_p.K2970N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3070						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.207692	50.341853	60.645002	27	103	CC		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Missense_Mutation	SNP	104483623	104483623	418	14	C	A	A	32	32	AHNAK2	A	3	3
AHNAK2	113146	broad.mit.edu	36	14	104485288	104485288	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104485288G>A	uc010axc.1	-	c.7545C>T	c.(7543-7545)GCC>GCT	p.A2515A	AHNAK2_uc001ypx.2_Silent_p.A2415A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2515						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.24	102.843892	115.168342	48	152	GG		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Silent	SNP	104485288	104485288	418	14	G	A	A	39	39	AHNAK2	A	1	1
AHNAK2	113146	broad.mit.edu	36	14	104485970	104485970	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104485970A>G	uc010axc.1	-	c.6863T>C	c.(6862-6864)GTC>GCC	p.V2288A	AHNAK2_uc001ypx.2_Missense_Mutation_p.V2188A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2288						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.787004	731.997034	753.054991	218	59	AA		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Missense_Mutation	SNP	104485970	104485970	418	14	A	G	G	10	10	AHNAK2	G	4	4
AHNAK2	113146	broad.mit.edu	36	14	104486997	104486997	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104486997C>T	uc010axc.1	-	c.5836G>A	c.(5836-5838)GAT>AAT	p.D1946N	AHNAK2_uc001ypx.2_Missense_Mutation_p.D1846N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1946						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.392982	297.922977	300.78262	112	173	CC		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Missense_Mutation	SNP	104486997	104486997	418	14	C	T	T	31	31	AHNAK2	T	1	1
C14orf79	122616	broad.mit.edu	36	14	104528996	104528996	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104528996G>A	uc001ypy.1	+	c.693G>A	c.(691-693)GCG>GCA	p.A231A	C14orf79_uc001ypz.1_Non-coding_Transcript	NM_174891	NP_777551	Q96F83	CN079_HUMAN	hypothetical protein LOC122616	231											0		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.367347	139.642231	141.90294	54	93	GG		KEEP	---	---	---	---	capture	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		Silent	SNP	104528996	104528996	1830	14	G	A	A	38	38	C14orf79	A	1	1
GPR132	29933	broad.mit.edu	36	14	104589290	104589290	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104589290G>T	uc001yqd.1	-	c.229C>A	c.(229-231)CTG>ATG	p.L77M	GPR132_uc001yqe.1_Missense_Mutation_p.L68M|GPR132_uc001yqc.1_De_novo_Start_InFrame	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	77	Cytoplasmic (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)												0.827273	281.171952	292.2954	91	19	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	Missense_Mutation	SNP	104589290	104589290	6916	14	G	T	T	34	34	GPR132	T	3	3
JAG2	3714	broad.mit.edu	36	14	104682409	104682409	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104682409C>T	uc001yqg.1	-	c.2987G>A	c.(2986-2988)CGC>CAC	p.R996H	JAG2_uc010axf.1_5'UTR|JAG2_uc001yqf.1_Missense_Mutation_p.R400H|JAG2_uc001yqh.1_Missense_Mutation_p.R958H	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	996	Extracellular (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)	3		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)								501				0.263158	10.375867	11.271496	5	14	CC		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	104682409	104682409	8239	14	C	T	T	27	27	JAG2	T	1	1
BRF1	2972	broad.mit.edu	36	14	104823700	104823700	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104823700C>T	uc001yqp.2	-	c.243G>A	c.(241-243)TCG>TCA	p.S81S	BRF1_uc010axg.1_Intron|BRF1_uc001yqr.1_Silent_p.S81S	NM_001519	NP_663718	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	81					regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	RNA polymerase III transcription factor activity|transcription activator activity|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)												0.7	41.954219	42.66775	14	6	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	Silent	SNP	104823700	104823700	1541	14	C	T	T	31	31	BRF1	T	1	1
PACS2	23241	broad.mit.edu	36	14	104917142	104917142	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104917142G>A	uc001yqu.2	+	c.981G>A	c.(979-981)TCG>TCA	p.S327S	PACS2_uc001yqs.2_Silent_p.S252S|PACS2_uc001yqv.2_Silent_p.S327S|PACS2_uc001yqt.2_Silent_p.S327S	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	327					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)												0.306818	66.538138	69.441622	27	61	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	Silent	SNP	104917142	104917142	11789	14	G	A	A	38	38	PACS2	A	1	1
PACS2	23241	broad.mit.edu	36	14	104919903	104919903	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104919903C>A	uc001yqu.2	+	c.1458C>A	c.(1456-1458)ATC>ATA	p.I486I	PACS2_uc001yqs.2_Silent_p.I407I|PACS2_uc001yqv.2_Silent_p.I486I|PACS2_uc001yqt.2_Silent_p.I482I	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	482					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)												0.778571	642.226853	662.153153	218	62	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	Silent	SNP	104919903	104919903	11789	14	C	A	A	32	32	PACS2	A	3	3
PACS2	23241	broad.mit.edu	36	14	104920191	104920191	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104920191C>A	uc001yqu.2	+	c.1521C>A	c.(1519-1521)TTC>TTA	p.F507L	PACS2_uc001yqs.2_Missense_Mutation_p.F428L|PACS2_uc001yqv.2_Missense_Mutation_p.F507L|PACS2_uc001yqt.2_Missense_Mutation_p.F503L	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	503					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)												0.307692	19.488185	20.346586	8	18	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	Missense_Mutation	SNP	104920191	104920191	11789	14	C	A	A	30	30	PACS2	A	3	3
PACS2	23241	broad.mit.edu	36	14	104930635	104930635	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104930635G>T	uc001yqu.2	+	c.2514G>T	c.(2512-2514)AAG>AAT	p.K838N	PACS2_uc001yqs.2_Missense_Mutation_p.K748N|PACS2_uc001yqv.2_Missense_Mutation_p.K827N|PACS2_uc001yqt.2_Missense_Mutation_p.K823N	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	823					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)												0.628866	176.682142	178.093613	61	36	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	Missense_Mutation	SNP	104930635	104930635	11789	14	G	T	T	35	35	PACS2	T	3	3
MTA1	9112	broad.mit.edu	36	14	105007560	105007560	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:105007560C>T	uc001yqx.1	+	c.2111C>T	c.(2110-2112)GCG>GTG	p.A704V	MTA1_uc001yqy.1_Non-coding_Transcript|MTA1_uc001yrb.1_Missense_Mutation_p.A469V	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	704	Poly-Pro.|SH3-binding (Potential).				regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)												0.826087	57.535126	59.84391	19	4	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	Missense_Mutation	SNP	105007560	105007560	10301	14	C	T	T	27	27	MTA1	T	1	1
OR4M1	441670	broad.mit.edu	36	14	19318677	19318677	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19318677C>T	uc001vwf.1	+	c.356C>T	c.(355-357)GCC>GTC	p.A119V		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)													0.332481	333.417831	343.13826	130	261	CC		KEEP	---	---	---	---	capture	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	Missense_Mutation	SNP	19318677	19318677	11485	14	C	T	T	26	26	OR4M1	T	2	2
OR4N2	390429	broad.mit.edu	36	14	19366081	19366081	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19366081C>A	uc001vwg.1	+	c.634C>A	c.(634-636)CTG>ATG	p.L212M		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_cancers(95;0.00108)													0.587963	354.0125	355.463767	127	89	CC		KEEP	---	---	---	---	capture	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	Missense_Mutation	SNP	19366081	19366081	11487	14	C	A	A	32	32	OR4N2	A	3	3
OR4K1	79544	broad.mit.edu	36	14	19474415	19474415	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19474415C>T	uc001vwj.1	+	c.750C>T	c.(748-750)TTC>TTT	p.F250F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)													0.300926	171.181126	178.833173	65	151	CC		KEEP	---	---	---	---	capture	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	Silent	SNP	19474415	19474415	11477	14	C	T	T	32	32	OR4K1	T	2	2
OR4K15	81127	broad.mit.edu	36	14	19514223	19514223	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19514223C>T	uc001vwk.1	+	c.706C>T	c.(706-708)CTC>TTC	p.L236F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	236	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)													0.299674	253.670897	264.684617	92	215	CC		KEEP	---	---	---	---	capture	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	Missense_Mutation	SNP	19514223	19514223	11480	14	C	T	T	32	32	OR4K15	T	2	2
OR4K15	81127	broad.mit.edu	36	14	19514453	19514453	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19514453G>A	uc001vwk.1	+	c.936G>A	c.(934-936)ACG>ACA	p.T312T		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	312	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)													0.208092	70.09386	83.759934	36	137	GG		KEEP	---	---	---	---	capture	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	Silent	SNP	19514453	19514453	11480	14	G	A	A	38	38	OR4K15	A	1	1
OR4K13	390433	broad.mit.edu	36	14	19572235	19572235	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19572235C>A	uc001vwm.1	-	c.523G>T	c.(523-525)GAC>TAC	p.D175Y		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)													0.541463	311.787148	312.089783	111	94	CC		KEEP	---	---	---	---	capture	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	Missense_Mutation	SNP	19572235	19572235	11478	14	C	A	A	32	32	OR4K13	A	3	3
OR4L1	122742	broad.mit.edu	36	14	19598207	19598207	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19598207T>G	uc001vwn.1	+	c.164T>G	c.(163-165)CTT>CGT	p.L55R		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(95;0.00108)													0.287154	304.780115	320.917215	114	283	TT		KEEP	---	---	---	---	capture	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	Missense_Mutation	SNP	19598207	19598207	11484	14	T	G	G	56	56	OR4L1	G	4	4
OR4L1	122742	broad.mit.edu	36	14	19598693	19598693	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19598693C>A	uc001vwn.1	+	c.650C>A	c.(649-651)TCT>TAT	p.S217Y		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(95;0.00108)													0.30597	193.835487	202.843546	82	186	CC		KEEP	---	---	---	---	capture	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	Missense_Mutation	SNP	19598693	19598693	11484	14	C	A	A	32	32	OR4L1	A	3	3
OR4L1	122742	broad.mit.edu	36	14	19598829	19598829	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19598829C>T	uc001vwn.1	+	c.786C>T	c.(784-786)TTC>TTT	p.F262F		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(95;0.00108)													0.272727	111.70863	119.913089	48	128	CC		KEEP	---	---	---	---	capture	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	Silent	SNP	19598829	19598829	11484	14	C	T	T	29	29	OR4L1	T	2	2
OR4K17	390436	broad.mit.edu	36	14	19655600	19655600	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19655600C>T	uc001vwo.1	+	c.195C>T	c.(193-195)ATC>ATT	p.I65I		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)													0.258224	390.76672	422.989097	157	451	CC		KEEP	---	---	---	---	capture	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	Silent	SNP	19655600	19655600	11481	14	C	T	T	32	32	OR4K17	T	2	2
OR4N5	390437	broad.mit.edu	36	14	19681831	19681831	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19681831A>T	uc001vwp.1	+	c.97A>T	c.(97-99)ATT>TTT	p.I33F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)													0.307329	337.770671	351.727714	130	293	AA		KEEP	---	---	---	---	capture	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	Missense_Mutation	SNP	19681831	19681831	11489	14	A	T	T	4	4	OR4N5	T	4	4
OR4N5	390437	broad.mit.edu	36	14	19682119	19682119	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19682119C>T	uc001vwp.1	+	c.385C>T	c.(385-387)CCT>TCT	p.P129S		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)													0.320093	348.021351	360.331238	137	291	CC		KEEP	---	---	---	---	capture	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	Missense_Mutation	SNP	19682119	19682119	11489	14	C	T	T	26	26	OR4N5	T	2	2
OR11G2	390439	broad.mit.edu	36	14	19736169	19736169	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19736169T>G	uc001vwq.1	+	c.835T>G	c.(835-837)TGT>GGT	p.C279G		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	279	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)													0.578231	568.686718	570.25659	170	124	TT		KEEP	---	---	---	---	capture	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	Missense_Mutation	SNP	19736169	19736169	11331	14	T	G	G	55	55	OR11G2	G	4	4
PARP2	10038	broad.mit.edu	36	14	19895781	19895781	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19895781C>T	uc001vxc.1	+	c.1737C>T	c.(1735-1737)TTC>TTT	p.F579F	PARP2_uc001vxb.1_3'UTR|PARP2_uc001vxd.1_Silent_p.F566F	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	579	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)												0.227723	52.67808	59.545508	23	78	CC		KEEP	---	---	---	---	capture	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	Silent	SNP	19895781	19895781	11878	14	C	T	T	30	30	PARP2	T	2	2
TEP1	7011	broad.mit.edu	36	14	19929665	19929665	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19929665C>T	uc001vxe.1	-	c.2030G>A	c.(2029-2031)CGC>CAC	p.R677H	TEP1_uc010ahk.1_Missense_Mutation_p.R27H	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	677					telomere maintenance via recombination|telomere maintenance via telomerase	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)												0.296736	241.355782	253.816003	100	237	CC		KEEP	---	---	---	---	capture	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	Missense_Mutation	SNP	19929665	19929665	16286	14	C	T	T	27	27	TEP1	T	1	1
RNASE10	338879	broad.mit.edu	36	14	20048876	20048876	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20048876G>A	uc001vxp.1	+	c.406G>A	c.(406-408)GCC>ACC	p.A136T		NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	136						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)													0.210526	36.056829	41.949588	16	60	GG		KEEP	---	---	---	---	capture	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	Missense_Mutation	SNP	20048876	20048876	13877	14	G	A	A	34	34	RNASE10	A	2	2
OR6S1	341799	broad.mit.edu	36	14	20178982	20178982	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20178982G>A	uc001vxv.1	-	c.709C>T	c.(709-711)CGT>TGT	p.R237C		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00304)													0.573529	235.466989	236.110064	78	58	GG		KEEP	---	---	---	---	capture	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	Missense_Mutation	SNP	20178982	20178982	11620	14	G	A	A	39	39	OR6S1	A	1	1
RNASE3	6037	broad.mit.edu	36	14	20430002	20430002	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20430002C>T	uc001vyj.1	+	c.317C>T	c.(316-318)CCT>CTT	p.P106L	RNASE2_uc001vyk.1_Intron|RNASE3_uc010aie.1_Missense_Mutation_p.P106L	NM_002935	NP_002926	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3 (eosinophil	106					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00453)				Pranlukast(DB01411)									0.278075	142.819148	151.105127	52	135	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Missense_Mutation	SNP	20430002	20430002	13882	14	C	T	T	24	24	RNASE3	T	2	2
SLC39A2	29986	broad.mit.edu	36	14	20539537	20539537	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20539537G>A	uc001vyr.2	+	c.889G>A	c.(889-891)GCT>ACT	p.A297T	SLC39A2_uc001vys.2_Missense_Mutation_p.A198T	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter),	297	Helical; (Potential).					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			ovary(2)|central_nervous_system(1)	3	all_cancers(95;0.00267)													0.278481	100.547001	107.516263	44	114	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	Missense_Mutation	SNP	20539537	20539537	15115	14	G	A	A	38	38	SLC39A2	A	1	1
ZNF219	51222	broad.mit.edu	36	14	20629933	20629933	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20629933G>A	uc001vzr.2	-	c.1363C>T	c.(1363-1365)CGC>TGC	p.R455C	ZNF219_uc001vzs.2_Missense_Mutation_p.R455C|ZNF219_uc010aik.1_Missense_Mutation_p.R455C	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	455					regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding				0	all_cancers(95;0.00185)													0.625	28.350219	28.568957	10	6	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	Missense_Mutation	SNP	20629933	20629933	18364	14	G	A	A	38	38	ZNF219	A	1	1
OR5AU1	390445	broad.mit.edu	36	14	20693159	20693159	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20693159A>C	uc001vzt.1	-	c.866T>G	c.(865-867)TTT>TGT	p.F289C		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU,	289	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(95;0.00238)													0.488095	136.876535	136.886704	41	43	AA		KEEP	---	---	---	---	capture	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	Missense_Mutation	SNP	20693159	20693159	11557	14	A	C	C	1	1	OR5AU1	C	4	4
RPGRIP1	57096	broad.mit.edu	36	14	20845732	20845732	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20845732C>A	uc001wag.1	+	c.803C>A	c.(802-804)GCT>GAT	p.A268D		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	268					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)								1408				0.285714	10.09377	10.670956	4	10	CC		KEEP	---	---	---	---	capture	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	Missense_Mutation	SNP	20845732	20845732	14028	14	C	A	A	28	28	RPGRIP1	A	3	3
RPGRIP1	57096	broad.mit.edu	36	14	20863896	20863896	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20863896C>T	uc001wag.1	+	c.2434C>T	c.(2434-2436)CGG>TGG	p.R812W	RPGRIP1_uc001wah.1_Missense_Mutation_p.R454W|RPGRIP1_uc001wai.1_Intron|RPGRIP1_uc001wak.1_Missense_Mutation_p.R287W|RPGRIP1_uc010aim.1_Missense_Mutation_p.R195W|RPGRIP1_uc001wal.1_Missense_Mutation_p.R171W|RPGRIP1_uc001wam.1_Missense_Mutation_p.R129W	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	812	C2.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)								1408				0.315068	62.299042	64.51993	23	50	CC		KEEP	---	---	---	---	capture	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	Missense_Mutation	SNP	20863896	20863896	14028	14	C	T	T	23	23	RPGRIP1	T	1	1
CHD8	57680	broad.mit.edu	36	14	20924024	20924024	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20924024T>C	uc001was.1	-	c.6497A>G	c.(6496-6498)AAC>AGC	p.N2166S	SUPT16H_uc001wao.1_5'Flank|SUPT16H_uc001wap.1_5'Flank|SUPT16H_uc001waq.1_5'Flank|CHD8_uc001war.1_Missense_Mutation_p.N2062S	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2445					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)									886				0.5	30.976747	30.976747	9	9	TT		KEEP	---	---	---	---	capture	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	Missense_Mutation	SNP	20924024	20924024	3465	14	T	C	C	60	60	CHD8	C	4	4
CHD8	57680	broad.mit.edu	36	14	20929909	20929909	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20929909A>G	uc001was.1	-	c.5971T>C	c.(5971-5973)TTG>CTG	p.L1991L	CHD8_uc001war.1_Silent_p.L1887L	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2270					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)									886				0.402597	99.616193	100.252907	31	46	AA		KEEP	---	---	---	---	capture	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	Silent	SNP	20929909	20929909	3465	14	A	G	G	2	2	CHD8	G	4	4
CHD8	57680	broad.mit.edu	36	14	20939430	20939430	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20939430T>C	uc001was.1	-	c.3308A>G	c.(3307-3309)GAC>GGC	p.D1103G	CHD8_uc001war.1_Missense_Mutation_p.D999G|CHD8_uc001wav.1_Missense_Mutation_p.D545G	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1382					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)									886				0.304348	20.817896	21.602532	7	16	TT		KEEP	---	---	---	---	capture	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	Missense_Mutation	SNP	20939430	20939430	3465	14	T	C	C	58	58	CHD8	C	4	4
TOX4	9878	broad.mit.edu	36	14	21025530	21025530	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:21025530C>T	uc001waz.1	+	c.156C>T	c.(154-156)GTC>GTT	p.V52V	TOX4_uc001way.2_5'UTR|TOX4_uc001wba.1_Non-coding_Transcript	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	52						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)													0.265672	219.556045	236.162923	89	246	CC		KEEP	---	---	---	---	capture	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	Silent	SNP	21025530	21025530	16922	14	C	T	T	32	32	TOX4	T	2	2
TOX4	9878	broad.mit.edu	36	14	21031056	21031056	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:21031056C>T	uc001waz.1	+	c.1441C>T	c.(1441-1443)CGA>TGA	p.R481*	TOX4_uc001way.2_Nonsense_Mutation_p.R351*|TOX4_uc001wba.1_Non-coding_Transcript	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	481	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)													0.545918	300.995304	301.370591	107	89	CC		KEEP	---	---	---	---	capture	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	Nonsense_Mutation	SNP	21031056	21031056	16922	14	C	T	T	31	31	TOX4	T	5	1
OR4E2	26686	broad.mit.edu	36	14	21203755	21203755	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:21203755T>C	uc001wbl.1	+	c.619T>C	c.(619-621)TCC>CCC	p.S207P		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)								64				0.282051	127.669794	134.378541	44	112	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0137)	Missense_Mutation	SNP	21203755	21203755	11467	14	T	C	C	54	54	OR4E2	C	4	4
OXA1L	5018	broad.mit.edu	36	14	22305737	22305737	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22305737C>A	uc001wgn.1	+	c.167C>A	c.(166-168)CCT>CAT	p.P56H	OXA1L_uc001wgo.1_Non-coding_Transcript|OXA1L_uc010akc.1_Missense_Mutation_p.P56H|OXA1L_uc001wgp.1_5'Flank|OXA1L_uc001wgq.1_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	Error:Variant_position_missing_in_Q15070_after_alignment					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex				central_nervous_system(1)	1	all_cancers(95;8.44e-05)													0.296137	163.284439	171.946762	69	164	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0096)	Missense_Mutation	SNP	22305737	22305737	11741	14	C	A	A	24	24	OXA1L	A	3	3
MMP14	4323	broad.mit.edu	36	14	22380631	22380631	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22380631C>T	uc001whc.1	+	c.200C>T	c.(199-201)GCC>GTC	p.A67V		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	67						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)													0.137931	10.557314	17.915545	8	50	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00551)	Missense_Mutation	SNP	22380631	22380631	10043	14	C	T	T	26	26	MMP14	T	2	2
MMP14	4323	broad.mit.edu	36	14	22381556	22381556	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22381556C>T	uc001whc.1	+	c.478C>T	c.(478-480)CGC>TGC	p.R160C		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	160	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)													0.367647	70.760753	71.806315	25	43	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00551)	Missense_Mutation	SNP	22381556	22381556	10043	14	C	T	T	23	23	MMP14	T	1	1
C14orf93	60686	broad.mit.edu	36	14	22535218	22535218	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22535218G>A	uc001wib.1	-	c.697C>T	c.(697-699)CGG>TGG	p.R233W	C14orf93_uc001wid.1_Missense_Mutation_p.R233W|C14orf93_uc001wie.1_Missense_Mutation_p.R233W|C14orf93_uc001wia.2_Missense_Mutation_p.R233W|C14orf93_uc001wif.1_Missense_Mutation_p.R53W|C14orf93_uc001wig.1_Missense_Mutation_p.R233W|C14orf93_uc001wih.1_Missense_Mutation_p.R233W|C14orf93_uc001wic.1_Missense_Mutation_p.R53W	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686	233						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)													0.303483	145.89406	152.82569	61	140	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0127)	Missense_Mutation	SNP	22535218	22535218	1832	14	G	A	A	38	38	C14orf93	A	1	1
PSMB11	122706	broad.mit.edu	36	14	22581561	22581561	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22581561G>A	uc010ake.1	+	c.287G>A	c.(286-288)GGC>GAC	p.G96D		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	proteasome subunit beta5t	96					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0	all_cancers(95;3.3e-05)													0.296089	130.808863	137.464654	53	126	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00643)	Missense_Mutation	SNP	22581561	22581561	13129	14	G	A	A	42	42	PSMB11	A	2	2
PSMB11	122706	broad.mit.edu	36	14	22581856	22581856	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22581856C>T	uc010ake.1	+	c.582C>T	c.(580-582)TAC>TAT	p.Y194Y		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	proteasome subunit beta5t	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0	all_cancers(95;3.3e-05)													0.294118	72.513164	76.38131	30	72	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00643)	Silent	SNP	22581856	22581856	13129	14	C	T	T	19	19	PSMB11	T	1	1
ACIN1	22985	broad.mit.edu	36	14	22619764	22619764	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22619764C>T	uc001wit.2	-	c.794G>A	c.(793-795)CGA>CAA	p.R265Q	ACIN1_uc001wis.2_5'UTR|ACIN1_uc010akg.1_Missense_Mutation_p.R265Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	265	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)	3	all_cancers(95;1.36e-05)													0.273936	249.249482	266.570758	103	273	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00816)	Missense_Mutation	SNP	22619764	22619764	143	14	C	T	T	31	31	ACIN1	T	1	1
ACIN1	22985	broad.mit.edu	36	14	22629030	22629030	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22629030C>T	uc001wit.2	-	c.610_splice	c.e4+1	p.R204_splice	ACIN1_uc010akg.1_Splice_Site_SNP_p.R204_splice	NM_014977	NP_055792			apoptotic chromatin condensation inducer 1						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)	3	all_cancers(95;1.36e-05)													0.25	25.97356	28.703845	12	36	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00816)	Splice_Site_SNP	SNP	22629030	22629030	143	14	C	T	T	20	20	ACIN1	T	5	2
ACIN1	22985	broad.mit.edu	36	14	22634129	22634129	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22634129C>T	uc001wit.2	-	c.207G>A	c.(205-207)GGG>GGA	p.G69G	ACIN1_uc010akg.1_Silent_p.G69G|C14orf119_uc001wiu.1_5'Flank|C14orf119_uc010akh.1_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	69					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)	3	all_cancers(95;1.36e-05)													0.19697	24.752261	30.389044	13	53	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00816)	Silent	SNP	22634129	22634129	143	14	C	T	T	30	30	ACIN1	T	2	2
CEBPE	1053	broad.mit.edu	36	14	22656600	22656600	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22656600C>T	uc001wiv.1	-	c.782G>A	c.(781-783)CGC>CAC	p.R261H		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein epsilon	261	Leucine-zipper.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(95;4.6e-05)					NSCLC(63;1230 1818 14565 22565)								0.285714	43.063818	45.953963	20	50	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0064)	Missense_Mutation	SNP	22656600	22656600	3335	14	C	T	T	27	27	CEBPE	T	1	1
CEBPE	1053	broad.mit.edu	36	14	22656727	22656727	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22656727G>A	uc001wiv.1	-	c.655C>T	c.(655-657)CGC>TGC	p.R219C		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein epsilon	219	Basic motif.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(95;4.6e-05)					NSCLC(63;1230 1818 14565 22565)								0.671756	253.734596	257.176148	88	43	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0064)	Missense_Mutation	SNP	22656727	22656727	3335	14	G	A	A	38	38	CEBPE	A	1	1
SLC7A8	23428	broad.mit.edu	36	14	22678529	22678529	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22678529C>T	uc001wiz.1	-	c.856G>A	c.(856-858)GCT>ACT	p.A286T	SLC7A8_uc001wix.1_Missense_Mutation_p.A83T|SLC7A8_uc001wiy.1_Intron|SLC7A8_uc010akj.1_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	286	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)				L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)									0.291845	165.403657	174.448316	68	165	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00809)	Missense_Mutation	SNP	22678529	22678529	15201	14	C	T	T	27	27	SLC7A8	T	1	1
SLC7A8	23428	broad.mit.edu	36	14	22705418	22705418	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22705418G>A	uc001wiz.1	-	c.323C>T	c.(322-324)TCC>TTC	p.S108F	SLC7A8_uc010akj.1_Missense_Mutation_p.S108F	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	108					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)				L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)									0.287625	220.187527	232.248073	86	213	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00809)	Missense_Mutation	SNP	22705418	22705418	15201	14	G	A	A	41	41	SLC7A8	A	2	2
SLC22A17	51310	broad.mit.edu	36	14	22887705	22887705	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22887705T>C	uc001wjl.1	-	c.542A>G	c.(541-543)GAC>GGC	p.D181G	SLC22A17_uc010akk.1_Intron|SLC22A17_uc001wjn.1_Intron|SLC22A17_uc001wjm.1_Missense_Mutation_p.D181G|SLC22A17_uc010akl.1_3'UTR	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	181					siderophore transport|transmembrane transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transporter activity				0	all_cancers(95;7.12e-06)													0.264463	71.090612	77.212626	32	89	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00643)	Missense_Mutation	SNP	22887705	22887705	14944	14	T	C	C	58	58	SLC22A17	C	4	4
MYH6	4624	broad.mit.edu	36	14	22925038	22925038	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22925038C>A	uc001wjv.2	-	c.5102G>T	c.(5101-5103)CGG>CTG	p.R1701L		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1701	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)													0.583333	194.234892	194.890199	63	45	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	Missense_Mutation	SNP	22925038	22925038	10433	14	C	A	A	23	23	MYH6	A	3	3
MYH6	4624	broad.mit.edu	36	14	22927918	22927918	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22927918C>T	uc001wjv.2	-	c.4165G>A	c.(4165-4167)GAA>AAA	p.E1389K	MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1389	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)													0.6	247.907101	249.129025	84	56	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	Missense_Mutation	SNP	22927918	22927918	10433	14	C	T	T	31	31	MYH6	T	1	1
MYH6	4624	broad.mit.edu	36	14	22928056	22928056	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22928056C>T	uc001wjv.2	-	c.4027G>A	c.(4027-4029)GAC>AAC	p.D1343N	MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1343	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)													0.313953	66.001672	68.646749	27	59	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	Missense_Mutation	SNP	22928056	22928056	10433	14	C	T	T	31	31	MYH6	T	1	1
MYH7	4625	broad.mit.edu	36	14	22953124	22953124	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22953124G>A	uc001wjw.1	-	c.5587C>T	c.(5587-5589)CGG>TGG	p.R1863W	MYH7_uc001wjx.1_Missense_Mutation_p.R1863W	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1863	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)													0.323308	105.59721	109.274022	43	90	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00725)	Missense_Mutation	SNP	22953124	22953124	10434	14	G	A	A	38	38	MYH7	A	1	1
MYH7	4625	broad.mit.edu	36	14	22972226	22972226	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22972226G>A	uc001wjw.1	-	c.252C>T	c.(250-252)TTC>TTT	p.F84F	MYH7_uc001wjx.1_Silent_p.F84F	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	84	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)													0.294444	128.607728	135.412661	53	127	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00725)	Silent	SNP	22972226	22972226	10434	14	G	A	A	37	37	MYH7	A	1	1
MYH7	4625	broad.mit.edu	36	14	22972771	22972771	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22972771G>A	uc001wjw.1	-	c.11C>T	c.(10-12)TCG>TTG	p.S4L	MYH7_uc001wjx.1_Missense_Mutation_p.S4L	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	4	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)													0.292857	95.490646	100.889164	41	99	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00725)	Missense_Mutation	SNP	22972771	22972771	10434	14	G	A	A	37	37	MYH7	A	1	1
THTPA	79178	broad.mit.edu	36	14	23096266	23096266	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23096266G>A	uc001wkh.2	+	c.460G>A	c.(460-462)GCT>ACT	p.A154T	THTPA_uc001wkb.2_Intron|THTPA_uc001wkg.2_Missense_Mutation_p.A154T|THTPA_uc010akr.1_Intron|THTPA_uc001wki.2_Intron	NM_001126339	NP_001119811	Q9BU02	THTPA_HUMAN	thiamine triphosphatase	154					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	adenylate cyclase activity|thiamin-triphosphatase activity				0	all_cancers(95;0.000251)				Thiamine(DB00152)									0.659574	86.823776	87.878646	31	16	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00643)	Missense_Mutation	SNP	23096266	23096266	16409	14	G	A	A	38	38	THTPA	A	1	1
DHRS2	10202	broad.mit.edu	36	14	23184234	23184234	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23184234T>C	uc001wkt.2	+	c.786T>C	c.(784-786)TGT>TGC	p.C262C	DHRS2_uc001wku.2_Missense_Mutation_p.C259R|DHRS2_uc010akv.1_Non-coding_Transcript|DHRS2_uc001wkv.2_Missense_Mutation_p.V260A	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	Error:Variant_position_missing_in_Q13268_after_alignment					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|oxidation-reduction process|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2														0.281046	221.435293	234.612242	86	220	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00659)	Silent	SNP	23184234	23184234	4669	14	T	C	C	59	59	DHRS2	C	4	4
LRRC16B	90668	broad.mit.edu	36	14	23592802	23592802	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23592802C>T	uc001wlj.2	+	c.85C>T	c.(85-87)CAT>TAT	p.H29Y		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	29										ovary(2)|breast(2)|pancreas(1)	5														0.565217	109.020551	109.274609	39	30	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.019)	Missense_Mutation	SNP	23592802	23592802	9346	14	C	T	T	17	17	LRRC16B	T	2	2
CPNE6	9362	broad.mit.edu	36	14	23613844	23613844	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23613844G>T	uc001wll.1	+	c.672G>T	c.(670-672)AAG>AAT	p.K224N	CPNE6_uc001wlm.1_Missense_Mutation_p.K49N|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	224	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			ovary(1)	1														0.307692	9.393773	9.823174	4	9	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0184)	Missense_Mutation	SNP	23613844	23613844	3954	14	G	T	T	35	35	CPNE6	T	3	3
DCAF11	80344	broad.mit.edu	36	14	23658208	23658208	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23658208G>A	uc001wlv.1	+	c.794G>A	c.(793-795)CGC>CAC	p.R265H	DCAF11_uc001wlw.1_Missense_Mutation_p.R265H|DCAF11_uc001wlx.1_Missense_Mutation_p.R239H|DCAF11_uc001wly.1_Missense_Mutation_p.R221H|DCAF11_uc001wlz.1_Missense_Mutation_p.R165H|DCAF11_uc001wma.2_Missense_Mutation_p.R265H|DCAF11_uc001wmb.2_Missense_Mutation_p.R239H|DCAF11_uc001wmd.1_Missense_Mutation_p.R265H|DCAF11_uc001wme.1_Missense_Mutation_p.R225H|DCAF11_uc001wmc.1_Missense_Mutation_p.R165H	NM_025230	NP_079506	Q8TEB1	DCA11_HUMAN	WD repeat domain 23 isoform 1	265	WD 3.				protein ubiquitination	CUL4 RING ubiquitin ligase complex	protein binding				0														0.310345	263.557903	274.717186	108	240	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23658208	23658208	4433	14	G	A	A	38	38	DCAF11	A	1	1
FAM158A	51016	broad.mit.edu	36	14	23678618	23678618	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23678618G>T	uc001wmi.1	-	c.321C>A	c.(319-321)TTC>TTA	p.F107L		NM_016049	NP_057133	Q9Y3B6	F158A_HUMAN	hypothetical protein LOC51016	107											0														0.5	70.941464	70.941464	26	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23678618	23678618	5669	14	G	T	T	33	33	FAM158A	T	3	3
REC8	9985	broad.mit.edu	36	14	23712375	23712375	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23712375T>C	uc001wmr.1	+	c.377T>C	c.(376-378)ATG>ACG	p.M126T	REC8_uc001wms.1_Missense_Mutation_p.M126T	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	126					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0						NSCLC(139;1764 2537 12868 49041)								0.279221	235.955786	249.434247	86	222	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00839)	Missense_Mutation	SNP	23712375	23712375	13668	14	T	C	C	51	51	REC8	C	4	4
IPO4	79711	broad.mit.edu	36	14	23726190	23726190	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23726190C>T	uc001wmv.1	-	c.595G>A	c.(595-597)GCT>ACT	p.A199T	IPO4_uc001wmu.1_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.A63T|IPO4_uc001wmy.1_Missense_Mutation_p.A63T|IPO4_uc001wmz.1_Missense_Mutation_p.A199T	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	199					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1														0.572308	542.586545	544.075879	186	139	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0087)	Missense_Mutation	SNP	23726190	23726190	8096	14	C	T	T	27	27	IPO4	T	1	1
TM9SF1	10548	broad.mit.edu	36	14	23728767	23728767	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23728767G>A	uc001wnb.1	-	c.1515C>T	c.(1513-1515)TTC>TTT	p.F505F	IPO4_uc001wmu.1_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc001wmz.1_5'UTR|TM9SF1_uc001wna.1_Non-coding_Transcript	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	505	Helical; (Potential).				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1														0.330827	113.251742	116.626497	44	89	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0183)	Silent	SNP	23728767	23728767	16507	14	G	A	A	37	37	TM9SF1	A	1	1
TSSK4	283629	broad.mit.edu	36	14	23747019	23747019	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23747019C>A	uc001wnh.1	+	c.844C>A	c.(844-846)CTC>ATC	p.L282I	TSSK4_uc001wne.1_Missense_Mutation_p.L196I|TSSK4_uc001wnf.1_Missense_Mutation_p.L202I|TSSK4_uc001wng.1_Missense_Mutation_p.L272I	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	272	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity				0										41				0.237113	49.670786	55.802778	23	74	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.018)	Missense_Mutation	SNP	23747019	23747019	17224	14	C	A	A	24	24	TSSK4	A	3	3
CHMP4A	29082	broad.mit.edu	36	14	23750603	23750603	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23750603C>T	uc001wni.1	-	c.346G>A	c.(346-348)GAA>AAA	p.E116K	CHMP4A_uc001wnj.1_Missense_Mutation_p.E116K	NM_014169	NP_054888	Q9BY43	CHM4A_HUMAN	chromatin modifying protein 4A	73	Intramolecular interaction with C- terminus (By similarity).|Potential.|Interaction with phosphoinosides.				cellular membrane organization|endosome transport|protein transport	cytoplasmic vesicle membrane|cytosol|late endosome membrane	lipid binding|protein binding			ovary(2)	2														0.307692	100.455811	104.739495	40	90	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0181)	Missense_Mutation	SNP	23750603	23750603	3490	14	C	T	T	31	31	CHMP4A	T	1	1
GMPR2	51292	broad.mit.edu	36	14	23776603	23776603	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23776603C>T	uc010alk.1	+	c.746C>T	c.(745-747)GCT>GTT	p.A249V	GMPR2_uc001wnu.2_Missense_Mutation_p.A195V|GMPR2_uc001wnr.1_Missense_Mutation_p.A231V|GMPR2_uc001wns.1_Missense_Mutation_p.A231V|GMPR2_uc001wnt.1_Missense_Mutation_p.A198V|GMPR2_uc001wnv.1_Missense_Mutation_p.A68V|GMPR2_uc001wnw.1_Missense_Mutation_p.A231V|GMPR2_uc010all.1_Missense_Mutation_p.A203V|GMPR2_uc001wnx.1_Missense_Mutation_p.A249V|GMPR2_uc001wny.1_Missense_Mutation_p.A216V	NM_016576	NP_057660	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 1	231					nucleotide metabolic process|oxidation-reduction process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3										35				0.333333	122.051702	125.362087	45	90	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0181)	Missense_Mutation	SNP	23776603	23776603	6766	14	C	T	T	28	28	GMPR2	T	2	2
TINF2	26277	broad.mit.edu	36	14	23779729	23779729	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23779729C>T	uc001woa.2	-	c.797G>A	c.(796-798)CGA>CAA	p.R266Q	TINF2_uc010alm.1_Missense_Mutation_p.R90Q|TINF2_uc001wob.2_Missense_Mutation_p.R266Q|TINF2_uc001woc.2_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	266	TBM.|Nuclear localization signal (Potential).				negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding				0														0.283186	77.253876	82.024661	32	81	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0185)	Missense_Mutation	SNP	23779729	23779729	16452	14	C	T	T	31	31	TINF2	T	1	1
TGM1	7051	broad.mit.edu	36	14	23797434	23797434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23797434C>T	uc001wod.1	-	c.1299G>A	c.(1297-1299)TGG>TGA	p.W433*		NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	433					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					L-Glutamine(DB00130)									0.342105	70.951607	72.614013	26	50	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0186)	Nonsense_Mutation	SNP	23797434	23797434	16357	14	C	T	T	30	30	TGM1	T	5	2
TGM1	7051	broad.mit.edu	36	14	23798771	23798771	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23798771G>A	uc001wod.1	-	c.963C>T	c.(961-963)GTC>GTT	p.V321V		NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	321					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					L-Glutamine(DB00130)									0.16	7.283111	10.035999	4	21	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0186)	Silent	SNP	23798771	23798771	16357	14	G	A	A	33	33	TGM1	A	2	2
LTB4R2	56413	broad.mit.edu	36	14	23850693	23850693	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23850693G>A	uc001woq.1	+	c.1076G>A	c.(1075-1077)CGA>CAA	p.R359Q	LTB4R_uc001wos.1_5'UTR|LTB4R_uc001wot.1_5'Flank|CIDEB_uc001woo.1_5'Flank|CIDEB_uc001wop.1_5'Flank|LTB4R2_uc001wor.1_Missense_Mutation_p.R328Q	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	359	Cytoplasmic (Potential).				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane					0														0.596154	179.929103	180.800294	62	42	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.018)	Missense_Mutation	SNP	23850693	23850693	9448	14	G	A	A	37	37	LTB4R2	A	1	1
RIPK3	11035	broad.mit.edu	36	14	23878235	23878235	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23878235G>A	uc001wpb.1	-	c.297C>T	c.(295-297)AAC>AAT	p.N99N	RIPK3_uc001wpa.1_5'Flank|RIPK3_uc010alq.1_Non-coding_Transcript	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	99	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|protein phosphorylation	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4						Pancreas(58;918 1191 4668 13304 15331)				120				0.627119	214.664287	216.338483	74	44	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0181)	Silent	SNP	23878235	23878235	13859	14	G	A	A	40	40	RIPK3	A	1	1
NFATC4	4776	broad.mit.edu	36	14	23909041	23909041	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23909041G>T	uc001wpc.1	+	c.597G>T	c.(595-597)GAG>GAT	p.E199D	NFATC4_uc010alr.1_Missense_Mutation_p.E262D|NFATC4_uc010als.1_Missense_Mutation_p.E212D|NFATC4_uc010alt.1_Missense_Mutation_p.E231D|NFATC4_uc010alu.1_Intron|NFATC4_uc010alv.1_Missense_Mutation_p.E187D|NFATC4_uc001wpd.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	199	Pro-rich.				cell differentiation|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)	2														0.321429	46.445391	48.023829	18	38	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.018)	Missense_Mutation	SNP	23909041	23909041	10765	14	G	T	T	36	36	NFATC4	T	3	3
NYNRIN	57523	broad.mit.edu	36	14	23948824	23948824	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23948824G>T	uc001wpf.2	+	c.1984G>T	c.(1984-1986)GCA>TCA	p.A662S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	662					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.322581	22.506546	23.391148	10	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23948824	23948824	11201	14	G	T	T	34	34	NYNRIN	T	3	3
NYNRIN	57523	broad.mit.edu	36	14	23955496	23955496	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23955496T>C	uc001wpf.2	+	c.4701T>C	c.(4699-4701)CGT>CGC	p.R1567R		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1567					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.416667	31.74632	31.89166	10	14	TT		KEEP	---	---	---	---	capture			Silent	SNP	23955496	23955496	11201	14	T	C	C	60	60	NYNRIN	C	4	4
NYNRIN	57523	broad.mit.edu	36	14	23956240	23956240	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23956240G>A	uc001wpf.2	+	c.5445G>A	c.(5443-5445)AGG>AGA	p.R1815R		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1815					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.628866	179.585665	180.998383	61	36	GG		KEEP	---	---	---	---	capture			Silent	SNP	23956240	23956240	11201	14	G	A	A	42	42	NYNRIN	A	2	2
KHNYN	23351	broad.mit.edu	36	14	23975190	23975190	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23975190G>T	uc001wph.2	+	c.1650G>T	c.(1648-1650)GAG>GAT	p.E550D	KHNYN_uc010alw.1_Missense_Mutation_p.E550D	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351	550										ovary(2)|liver(1)	3												OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.233645	53.712923	60.667552	25	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23975190	23975190	8456	14	G	T	T	35	35	KHNYN	T	3	3
SDR39U1	56948	broad.mit.edu	36	14	23979855	23979855	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23979855G>A	uc001wpm.1	-	c.446C>T	c.(445-447)TCT>TTT	p.S149F	KHNYN_uc001wph.2_3'UTR|KHNYN_uc010alw.1_3'UTR|SDR39U1_uc001wpi.1_Missense_Mutation_p.S41F|SDR39U1_uc001wpj.1_Missense_Mutation_p.S67F|SDR39U1_uc001wpk.1_Missense_Mutation_p.S41F|SDR39U1_uc001wpl.1_Missense_Mutation_p.S94F|SDR39U1_uc001wpn.1_5'UTR	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	175							binding|catalytic activity			pancreas(1)	1														0.264865	117.681206	126.93471	49	136	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23979855	23979855	14458	14	G	A	A	33	33	SDR39U1	A	2	2
SDR39U1	56948	broad.mit.edu	36	14	23981429	23981429	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23981429A>G	uc001wpm.1	-	c.86T>C	c.(85-87)TTG>TCG	p.L29S	SDR39U1_uc001wpi.1_5'UTR|SDR39U1_uc001wpj.1_5'UTR|SDR39U1_uc001wpk.1_5'UTR|SDR39U1_uc001wpl.1_5'UTR|SDR39U1_uc001wpn.1_5'UTR	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	55							binding|catalytic activity			pancreas(1)	1														0.28	19.116082	20.202917	7	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23981429	23981429	14458	14	A	G	G	5	5	SDR39U1	G	4	4
CTSG	1511	broad.mit.edu	36	14	24112849	24112849	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:24112849G>A	uc001wpq.1	-	c.602C>T	c.(601-603)TCC>TTC	p.S201F		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	201	Peptidase S1.	Charge relay system.			immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2														0.236607	116.366542	130.571018	53	171	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0269)	Missense_Mutation	SNP	24112849	24112849	4194	14	G	A	A	41	41	CTSG	A	2	2
GZMB	3002	broad.mit.edu	36	14	24172044	24172044	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:24172044G>T	uc001wps.1	-	c.120C>A	c.(118-120)ATC>ATA	p.I40I	GZMB_uc010ama.1_Silent_p.I28I|GZMB_uc010amb.1_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	40	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity				0														0.608	429.203847	431.727697	152	98	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.028)	Silent	SNP	24172044	24172044	7196	14	G	T	T	33	33	GZMB	T	3	3
NOVA1	4857	broad.mit.edu	36	14	25987140	25987140	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:25987140G>A	uc001wpy.1	-	c.1389C>T	c.(1387-1389)TTC>TTT	p.F463F	NOVA1_uc001wpz.1_Silent_p.F439F|NOVA1_uc001wqa.1_Silent_p.F341F	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	466	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|liver(1)|skin(1)	3									p.F463F(SNU1040-Tumor)	340				0.571429	140.102235	140.474833	48	36	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0135)	Silent	SNP	25987140	25987140	10958	14	G	A	A	37	37	NOVA1	A	1	1
PRKD1	5587	broad.mit.edu	36	14	29169894	29169894	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:29169894C>T	uc001wqh.1	-	c.1477G>A	c.(1477-1479)GAA>AAA	p.E493K		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	493	PH.				cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)									428				0.283422	131.500289	139.376039	53	134	CC		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	Missense_Mutation	SNP	29169894	29169894	12961	14	C	T	T	31	31	PRKD1	T	1	1
PRKD1	5587	broad.mit.edu	36	14	29264517	29264517	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:29264517C>T	uc001wqh.1	-	c.379G>A	c.(379-381)GAT>AAT	p.D127N		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	127					cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)								p.D127N(HT115-Tumor)	428				0.271277	120.53498	129.410195	51	137	CC		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	Missense_Mutation	SNP	29264517	29264517	12961	14	C	T	T	31	31	PRKD1	T	1	1
SCFD1	23256	broad.mit.edu	36	14	30192486	30192486	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30192486G>A	uc001wqm.1	+	c.796G>A	c.(796-798)GAT>AAT	p.D266N	SCFD1_uc010amd.1_Missense_Mutation_p.D98N|SCFD1_uc010ame.1_Missense_Mutation_p.D199N|SCFD1_uc001wqn.1_Missense_Mutation_p.D199N|SCFD1_uc010amf.1_Missense_Mutation_p.D81N	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	266					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)													0.259669	122.634527	132.106339	47	134	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	Missense_Mutation	SNP	30192486	30192486	14370	14	G	A	A	33	33	SCFD1	A	2	2
SCFD1	23256	broad.mit.edu	36	14	30258298	30258298	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30258298G>T	uc001wqm.1	+	c.1700G>T	c.(1699-1701)AGA>ATA	p.R567I	SCFD1_uc010ame.1_Missense_Mutation_p.R500I|SCFD1_uc001wqn.1_Missense_Mutation_p.R500I|SCFD1_uc010amf.1_Missense_Mutation_p.R382I|SCFD1_uc010amg.1_Missense_Mutation_p.R13I	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	567					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)													0.265537	107.131716	115.9348	47	130	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	Missense_Mutation	SNP	30258298	30258298	14370	14	G	T	T	33	33	SCFD1	T	3	3
STRN3	29966	broad.mit.edu	36	14	30475537	30475537	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30475537G>A	uc001wqu.2	-	c.761C>T	c.(760-762)GCC>GTC	p.A254V	STRN3_uc001wqv.2_Missense_Mutation_p.A254V	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	254					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)													0.14966	32.744614	50.057905	22	125	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	Missense_Mutation	SNP	30475537	30475537	15850	14	G	A	A	42	42	STRN3	A	2	2
AP4S1	11154	broad.mit.edu	36	14	30605253	30605253	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30605253G>A	uc001wqw.2	+	c.100G>A	c.(100-102)GAA>AAA	p.E34K	AP4S1_uc001wqx.2_Missense_Mutation_p.E34K|AP4S1_uc010amh.1_Missense_Mutation_p.E34K|AP4S1_uc001wqy.2_Missense_Mutation_p.E34K|AP4S1_uc001wqz.2_Non-coding_Transcript	NM_007077	NP_009008	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1	34						coated pit|Golgi apparatus	protein transporter activity				0	Hepatocellular(127;0.0877)|Breast(36;0.176)					Pancreas(128;620 2365 4508 44145)								0.259843	163.936367	177.201322	66	188	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)	Missense_Mutation	SNP	30605253	30605253	764	14	G	A	A	33	33	AP4S1	A	2	2
HECTD1	25831	broad.mit.edu	36	14	30645960	30645960	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30645960G>T	uc001wrc.1	-	c.6869C>A	c.(6868-6870)TCA>TAA	p.S2290*	HECTD1_uc001wra.1_Nonsense_Mutation_p.S416*|HECTD1_uc001wrb.1_Nonsense_Mutation_p.S416*	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2290	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.176)													0.280303	86.308301	92.043886	37	95	GG		KEEP	---	---	---	---	capture	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)	Nonsense_Mutation	SNP	30645960	30645960	7322	14	G	T	T	45	45	HECTD1	T	5	3
HECTD1	25831	broad.mit.edu	36	14	30648374	30648374	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30648374C>T	uc001wrc.1	-	c.6460G>A	c.(6460-6462)GAT>AAT	p.D2154N	HECTD1_uc001wra.1_Missense_Mutation_p.D280N|HECTD1_uc001wrb.1_Missense_Mutation_p.D280N	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2154	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.176)													0.19186	64.962704	80.232882	33	139	CC		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	30648374	30648374	7322	14	C	T	T	32	32	HECTD1	T	2	2
HECTD1	25831	broad.mit.edu	36	14	30648507	30648507	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30648507C>T	uc001wrc.1	-	c.6327G>A	c.(6325-6327)ACG>ACA	p.T2109T	HECTD1_uc001wra.1_Silent_p.T235T|HECTD1_uc001wrb.1_Silent_p.T235T	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2109					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.176)													0.244186	46.130379	51.261799	21	65	CC		KEEP	---	---	---	---	capture	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)	Silent	SNP	30648507	30648507	7322	14	C	T	T	31	31	HECTD1	T	1	1
HEATR5A	25938	broad.mit.edu	36	14	30886823	30886823	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30886823G>A	uc001wrf.2	-	c.1871C>T	c.(1870-1872)TCA>TTA	p.S624L	HEATR5A_uc010ami.1_Missense_Mutation_p.S522L|HEATR5A_uc001wrg.1_Missense_Mutation_p.S506L	NM_015473	NP_056288			HEAT repeat containing 5A											ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)													0.315789	15.14198	15.716118	6	13	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	Missense_Mutation	SNP	30886823	30886823	7314	14	G	A	A	45	45	HEATR5A	A	2	2
NUBPL	80224	broad.mit.edu	36	14	31212311	31212311	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:31212311G>A	uc001wrk.2	+	c.383_splice	c.e5-1	p.S128_splice	NUBPL_uc010amj.1_Splice_Site_SNP	NM_025152	NP_079428			nucleotide binding protein-like						mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)													0.618182	113.761277	114.434372	34	21	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	Splice_Site_SNP	SNP	31212311	31212311	11122	14	G	A	A	35	35	NUBPL	A	5	2
ARHGAP5	394	broad.mit.edu	36	14	31631841	31631841	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:31631841C>T	uc001wrl.1	+	c.2215C>T	c.(2215-2217)CGT>TGT	p.R739C	ARHGAP5_uc001wrm.1_Missense_Mutation_p.R739C|ARHGAP5_uc001wrn.1_Missense_Mutation_p.R739C|ARHGAP5_uc001wro.1_Intron|ARHGAP5_uc001wrp.1_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	739					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(3)|central_nervous_system(1)	4	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)					NSCLC(9;77 350 3443 29227 41353)								0.269939	105.025264	112.811532	44	119	CC		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	31631841	31631841	900	14	C	T	T	31	31	ARHGAP5	T	1	1
AKAP6	9472	broad.mit.edu	36	14	32139695	32139695	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:32139695G>T	uc001wrq.1	+	c.2676G>T	c.(2674-2676)GAG>GAT	p.E892D	AKAP6_uc010aml.1_Missense_Mutation_p.E889D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	892					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)					Melanoma(49;821 1200 7288 13647 42351)				483				0.403846	110.919346	111.762497	42	62	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	Missense_Mutation	SNP	32139695	32139695	458	14	G	T	T	33	33	AKAP6	T	3	3
AKAP6	9472	broad.mit.edu	36	14	32362668	32362668	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:32362668T>G	uc001wrq.1	+	c.5898T>G	c.(5896-5898)AAT>AAG	p.N1966K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1966					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)					Melanoma(49;821 1200 7288 13647 42351)				483				0.218085	110.89695	124.650126	41	147	TT		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	Missense_Mutation	SNP	32362668	32362668	458	14	T	G	G	50	50	AKAP6	G	4	4
AKAP6	9472	broad.mit.edu	36	14	32363563	32363563	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:32363563C>T	uc001wrq.1	+	c.6793C>T	c.(6793-6795)CCA>TCA	p.P2265S		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2265					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)					Melanoma(49;821 1200 7288 13647 42351)				483				0.295238	73.660921	77.615903	31	74	CC		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	Missense_Mutation	SNP	32363563	32363563	458	14	C	T	T	26	26	AKAP6	T	2	2
NPAS3	64067	broad.mit.edu	36	14	33339298	33339298	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:33339298C>A	uc001wru.1	+	c.2034C>A	c.(2032-2034)TCC>TCA	p.S678S	NPAS3_uc001wrt.1_Silent_p.S646S|NPAS3_uc001wrv.1_Silent_p.S648S|NPAS3_uc001wrs.1_Silent_p.S665S	NM_022123	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 1	678					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			ovary(1)	1	Breast(36;0.0102)|Hepatocellular(127;0.133)													0.239726	71.06143	80.08921	35	111	CC		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	Silent	SNP	33339298	33339298	10968	14	C	A	A	22	22	NPAS3	A	3	3
CFL2	1073	broad.mit.edu	36	14	34251844	34251844	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:34251844G>T	uc001wsg.2	-	c.479C>A	c.(478-480)TCA>TAA	p.S160*	CFL2_uc001wsh.2_Nonsense_Mutation_p.S160*|CFL2_uc001wsi.2_Non-coding_Transcript|CFL2_uc001wsj.2_Non-coding_Transcript	NM_021914	NP_619579	Q9Y281	COF2_HUMAN	cofilin 2	160						cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(2)	2	Breast(36;0.0361)|Hepatocellular(127;0.158)													0.253247	90.044291	98.563238	39	115	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	Nonsense_Mutation	SNP	34251844	34251844	3424	14	G	T	T	45	45	CFL2	T	5	3
BAZ1A	11177	broad.mit.edu	36	14	34310584	34310584	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:34310584G>A	uc001wsk.1	-	c.3185C>T	c.(3184-3186)ACT>ATT	p.T1062I	BAZ1A_uc001wsl.1_Missense_Mutation_p.T1030I	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1062					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	transcription regulator activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	6	Breast(36;0.0388)|Hepatocellular(127;0.158)													0.251534	93.186063	102.337262	41	122	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	Missense_Mutation	SNP	34310584	34310584	1350	14	G	A	A	36	36	BAZ1A	A	2	2
BAZ1A	11177	broad.mit.edu	36	14	34401021	34401021	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:34401021G>T	uc001wsk.1	-	c.372C>A	c.(370-372)GTC>GTA	p.V124V	BAZ1A_uc001wsl.1_Silent_p.V124V|BAZ1A_uc001wsm.1_Silent_p.V124V	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	124	WAC.|Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	transcription regulator activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	6	Breast(36;0.0388)|Hepatocellular(127;0.158)													0.240175	120.790641	134.919705	55	174	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	Silent	SNP	34401021	34401021	1350	14	G	T	T	45	45	BAZ1A	T	3	3
SRP54	6729	broad.mit.edu	36	14	34553709	34553709	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:34553709G>A	uc001wso.1	+	c.895G>A	c.(895-897)GAC>AAC	p.D299N		NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa	299	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)													0.265625	119.8995	129.46505	51	141	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	Missense_Mutation	SNP	34553709	34553709	15669	14	G	A	A	37	37	SRP54	A	1	1
KIAA0391	9692	broad.mit.edu	36	14	34809502	34809502	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:34809502A>G	uc001wsy.1	+	c.1569A>G	c.(1567-1569)GGA>GGG	p.G523G	KIAA0391_uc001wsz.1_Silent_p.G507G|KIAA0391_uc001wta.1_Non-coding_Transcript|KIAA0391_uc001wtb.1_Silent_p.G507G|KIAA0391_uc001wtc.1_Silent_p.G151G	NM_014672	NP_055487	O15091	MRRP3_HUMAN	hypothetical protein LOC9692	523					tRNA processing	mitochondrion					0	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)													0.56	235.210208	235.614792	70	55	AA		KEEP	---	---	---	---	capture	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	Silent	SNP	34809502	34809502	8479	14	A	G	G	10	10	KIAA0391	G	4	4
NFKBIA	4792	broad.mit.edu	36	14	34941388	34941388	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:34941388T>C	uc001wtf.2	-	c.869A>G	c.(868-870)GAC>GGC	p.D290G	NFKBIA_uc001wte.2_Missense_Mutation_p.D200G|NFKBIA_uc001wtg.2_Missense_Mutation_p.D247G|NFKBIA_uc010amo.1_Non-coding_Transcript	NM_020529	NP_065390	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene	290					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of NF-kappaB transcription factor activity|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	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(2)	2	Breast(36;0.0484)|Hepatocellular(127;0.158)									105				0.326271	231.806951	238.118929	77	159	TT		KEEP	---	---	---	---	capture	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Missense_Mutation	SNP	34941388	34941388	10777	14	T	C	C	58	58	NFKBIA	C	4	4
INSM2	84684	broad.mit.edu	36	14	35074635	35074635	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:35074635G>A	uc001wth.1	+	c.1426G>A	c.(1426-1428)GGA>AGA	p.G476R		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	476	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)													0.271523	106.168925	113.239929	41	110	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	Missense_Mutation	SNP	35074635	35074635	8073	14	G	A	A	39	39	INSM2	A	1	1
NKX2-1	7080	broad.mit.edu	36	14	36056787	36056787	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:36056787G>A	uc001wtu.1	-	c.653C>T	c.(652-654)GCG>GTG	p.A218V	SFTA3_uc001wts.1_Intron|NKX2-1_uc001wtt.1_Missense_Mutation_p.A188V|NKX2-1_uc001wtv.1_Missense_Mutation_p.A188V	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 1	188	Homeobox.				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		promoter binding|protein binding|transcription activator activity			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)									15				0.482759	34.638137	34.645979	14	15	GG		KEEP	---	---	---	---	capture	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	Missense_Mutation	SNP	36056787	36056787	10851	14	G	A	A	38	38	NKX2-1	A	1	1
PAX9	5083	broad.mit.edu	36	14	36202149	36202149	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:36202149G>A	uc001wty.2	+	c.301G>A	c.(301-303)GAG>AAG	p.E101K	PAX9_uc010amq.1_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	101	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription repressor activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)													0.296512	126.525015	132.859044	51	121	GG		KEEP	---	---	---	---	capture	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	Missense_Mutation	SNP	36202149	36202149	11906	14	G	A	A	41	41	PAX9	A	2	2
PAX9	5083	broad.mit.edu	36	14	36215393	36215393	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:36215393G>A	uc001wty.2	+	c.1011G>A	c.(1009-1011)ACG>ACA	p.T337T	PAX9_uc010amq.1_Non-coding_Transcript	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	337					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription repressor activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)													0.572327	287.835695	288.559449	91	68	GG		KEEP	---	---	---	---	capture	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	Silent	SNP	36215393	36215393	11906	14	G	A	A	39	39	PAX9	A	1	1
SLC25A21	89874	broad.mit.edu	36	14	36222792	36222792	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:36222792A>C	uc001wtz.1	-	c.830T>G	c.(829-831)CTT>CGT	p.L277R		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	277	Helical; Name=6; (Potential).|Solcar 3.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)													0.305882	73.414588	76.273327	26	59	AA		KEEP	---	---	---	---	capture	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	Missense_Mutation	SNP	36222792	36222792	14981	14	A	C	C	3	3	SLC25A21	C	4	4
MIPOL1	145282	broad.mit.edu	36	14	36807632	36807632	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:36807632T>C	uc001wuc.1	+	c.270T>C	c.(268-270)CAT>CAC	p.H90H	MIPOL1_uc010amr.1_Non-coding_Transcript|MIPOL1_uc001wub.2_Silent_p.H59H|MIPOL1_uc001wud.1_Silent_p.H90H|MIPOL1_uc010ams.1_Silent_p.H90H|MIPOL1_uc001wue.1_Silent_p.H59H|MIPOL1_uc010amt.1_Intron	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	90										ovary(1)	1	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)													0.299145	320.062084	332.702389	105	246	TT		KEEP	---	---	---	---	capture	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	Silent	SNP	36807632	36807632	9983	14	T	C	C	49	49	MIPOL1	C	4	4
FOXA1	3169	broad.mit.edu	36	14	37130510	37130510	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:37130510C>T	uc001wuf.1	-	c.1230G>A	c.(1228-1230)GAG>GAA	p.E410E		NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	410					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)													0.357143	71.553514	72.812663	25	45	CC		KEEP	---	---	---	---	capture	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	Silent	SNP	37130510	37130510	6231	14	C	T	T	28	28	FOXA1	T	2	2
SSTR1	6751	broad.mit.edu	36	14	37749071	37749071	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:37749071C>T	uc001wul.1	+	c.726C>T	c.(724-726)TGC>TGT	p.C242C	SSTR1_uc010amu.1_Intron|SSTR1_uc010amv.1_Silent_p.C242C	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	242	Helical; Name=5; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)				Octreotide(DB00104)									0.647619	205.9117	207.924531	68	37	CC		KEEP	---	---	---	---	capture	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Silent	SNP	37749071	37749071	15713	14	C	T	T	28	28	SSTR1	T	2	2
SEC23A	10484	broad.mit.edu	36	14	38572201	38572201	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:38572201G>T	uc001wup.1	-	c.2291C>A	c.(2290-2292)GCT>GAT	p.A764D		NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	764					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)	4	Hepatocellular(127;0.213)													0.176829	52.063202	68.215105	29	135	GG		KEEP	---	---	---	---	capture	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	Missense_Mutation	SNP	38572201	38572201	14477	14	G	T	T	34	34	SEC23A	T	3	3
SEC23A	10484	broad.mit.edu	36	14	38584250	38584250	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:38584250G>T	uc001wup.1	-	c.1767C>A	c.(1765-1767)TTC>TTA	p.F589L		NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	589					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)	4	Hepatocellular(127;0.213)													0.46875	82.537485	82.592441	30	34	GG		KEEP	---	---	---	---	capture	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	Missense_Mutation	SNP	38584250	38584250	14477	14	G	T	T	41	41	SEC23A	T	3	3
TRAPPC6B	122553	broad.mit.edu	36	14	38693222	38693222	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:38693222A>G	uc001wut.1	-	c.295T>C	c.(295-297)TTT>CTT	p.F99L	TRAPPC6B_uc001wuu.1_Intron|TRAPPC6B_uc001wuv.1_Non-coding_Transcript	NM_001079537	NP_001073005	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B isoform	99					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding				0	Hepatocellular(127;0.213)													0.287234	80.390918	84.204694	27	67	AA		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	Missense_Mutation	SNP	38693222	38693222	17008	14	A	G	G	4	4	TRAPPC6B	G	4	4
PNN	5411	broad.mit.edu	36	14	38719712	38719712	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:38719712G>T	uc001wuw.2	+	c.1048G>T	c.(1048-1050)GAG>TAG	p.E350*		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	350	Potential.|Glu-rich.				cell adhesion|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)													0.35	17.917269	18.315054	7	13	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	Nonsense_Mutation	SNP	38719712	38719712	12587	14	G	T	T	33	33	PNN	T	5	3
MIA2	117153	broad.mit.edu	36	14	38786598	38786598	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:38786598G>A	uc001wux.1	+	c.1069G>A	c.(1069-1071)GAA>AAA	p.E357K	MIA2_uc010amy.1_Missense_Mutation_p.E288K	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	357						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)													0.619565	177.788418	178.940349	57	35	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	Missense_Mutation	SNP	38786598	38786598	9954	14	G	A	A	33	33	MIA2	A	2	2
FBXO33	254170	broad.mit.edu	36	14	38940324	38940324	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:38940324G>T	uc001wvk.1	-	c.1203C>A	c.(1201-1203)AGC>AGA	p.S401R		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	401											0	Hepatocellular(127;0.213)													0.661417	262.92877	265.851597	84	43	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	Missense_Mutation	SNP	38940324	38940324	5980	14	G	T	T	34	34	FBXO33	T	3	3
LRFN5	145581	broad.mit.edu	36	14	41426278	41426278	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:41426278G>A	uc001wvm.1	+	c.700G>A	c.(700-702)GCA>ACA	p.A234T	LRFN5_uc010ana.1_Missense_Mutation_p.A234T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	234	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8														0.58498	417.591339	419.178469	148	105	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	Missense_Mutation	SNP	41426278	41426278	9314	14	G	A	A	46	46	LRFN5	A	2	2
FAM179B	23116	broad.mit.edu	36	14	44501667	44501667	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:44501667G>T	uc001wvw.1	+	c.293G>T	c.(292-294)CGG>CTG	p.R98L	FAM179B_uc001wvv.1_Missense_Mutation_p.R98L|FAM179B_uc010anc.1_Non-coding_Transcript|KLHL28_uc001wvq.1_5'Flank|KLHL28_uc001wvr.1_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R98L|FAM179B_uc001wvu.2_Missense_Mutation_p.R98L	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	98							binding				0														0.276699	142.995098	152.237197	57	149	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44501667	44501667	5712	14	G	T	T	39	39	FAM179B	T	3	3
FAM179B	23116	broad.mit.edu	36	14	44543293	44543293	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:44543293C>T	uc001wvw.1	+	c.2618C>T	c.(2617-2619)TCG>TTG	p.S873L	FAM179B_uc001wvv.1_Missense_Mutation_p.S873L|FAM179B_uc010anc.1_Non-coding_Transcript|FAM179B_uc001wvu.2_Missense_Mutation_p.S873L	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	873							binding				0														0.299065	79.45525	83.31835	32	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44543293	44543293	5712	14	C	T	T	31	31	FAM179B	T	1	1
PRPF39	55015	broad.mit.edu	36	14	44634304	44634304	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:44634304G>A	uc001wvz.2	+	c.112G>A	c.(112-114)GTT>ATT	p.V38I	PRPF39_uc001wvy.2_5'UTR|PRPF39_uc010and.1_5'UTR	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	PRP39 pre-mRNA processing factor 39 homolog	38					mRNA processing|RNA splicing	nucleus	binding			ovary(1)|breast(1)	2														0.535714	260.24587	260.431297	90	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44634304	44634304	13012	14	G	A	A	40	40	PRPF39	A	1	1
PRPF39	55015	broad.mit.edu	36	14	44646411	44646411	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:44646411G>T	uc001wvz.2	+	c.745G>T	c.(745-747)GAA>TAA	p.E249*	PRPF39_uc001wvy.2_Nonsense_Mutation_p.E128*|PRPF39_uc010and.1_Nonsense_Mutation_p.E39*|PRPF39_uc001wwa.1_5'Flank	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	PRP39 pre-mRNA processing factor 39 homolog	249	HAT 4.				mRNA processing|RNA splicing	nucleus	binding			ovary(1)|breast(1)	2														0.545455	17.44972	17.469364	6	5	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	44646411	44646411	13012	14	G	T	T	33	33	PRPF39	T	5	3
FANCM	57697	broad.mit.edu	36	14	44703448	44703448	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:44703448G>A	uc001wwd.2	+	c.1718G>A	c.(1717-1719)CGA>CAA	p.R573Q	FANCM_uc001wwc.2_Missense_Mutation_p.R573Q|FANCM_uc010anf.1_Missense_Mutation_p.R547Q|FANCM_uc001wwe.2_Intron	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	573	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.274725	58.740782	62.897876	25	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44703448	44703448	5907	14	G	A	A	37	37	FANCM	A	1	1
MDGA2	161357	broad.mit.edu	36	14	46413067	46413067	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:46413067T>C	uc001wwj.2	-	c.2317A>G	c.(2317-2319)ACA>GCA	p.T773A	MDGA2_uc001wwh.2_5'UTR|MDGA2_uc001wwi.2_Missense_Mutation_p.T544A|MDGA2_uc010ani.1_Missense_Mutation_p.T333A	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	773	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.278689	156.368077	164.416113	51	132	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46413067	46413067	9796	14	T	C	C	57	57	MDGA2	C	4	4
MDGA2	161357	broad.mit.edu	36	14	46421015	46421015	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:46421015G>A	uc001wwj.2	-	c.2191C>T	c.(2191-2193)CGT>TGT	p.R731C	MDGA2_uc001wwh.2_5'UTR|MDGA2_uc001wwi.2_Missense_Mutation_p.R502C|MDGA2_uc010ani.1_Missense_Mutation_p.R291C	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	731					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.418182	64.615909	64.936979	23	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46421015	46421015	9796	14	G	A	A	37	37	MDGA2	A	1	1
MDGA2	161357	broad.mit.edu	36	14	46459091	46459091	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:46459091G>T	uc001wwj.2	-	c.1905C>A	c.(1903-1905)TTC>TTA	p.F635L	MDGA2_uc001wwi.2_Missense_Mutation_p.F406L|MDGA2_uc010ani.1_Missense_Mutation_p.F195L	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	635					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.213675	50.302132	59.170973	25	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46459091	46459091	9796	14	G	T	T	33	33	MDGA2	T	3	3
RPL36AL	6166	broad.mit.edu	36	14	49155283	49155283	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49155283T>G	uc001wwq.1	-	c.290A>C	c.(289-291)AAG>ACG	p.K97T	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc010anm.1_Missense_Mutation_p.K97T|MGAT2_uc001wwr.1_5'Flank	NM_001001	NP_000992	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like protein	97					translation	ribosome	structural constituent of ribosome				0	all_epithelial(31;0.0021)|Breast(41;0.0124)													0.284211	137.868377	145.814062	54	136	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49155283	49155283	14067	14	T	G	G	56	56	RPL36AL	G	4	4
MGAT2	4247	broad.mit.edu	36	14	49158636	49158636	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49158636C>T	uc001wwr.1	+	c.900C>T	c.(898-900)TTC>TTT	p.F300F	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	300	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)													0.622024	673.735885	678.120876	209	127	CC		KEEP	---	---	---	---	capture			Silent	SNP	49158636	49158636	9933	14	C	T	T	32	32	MGAT2	T	2	2
C14orf104	55172	broad.mit.edu	36	14	49169925	49169925	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49169925C>T	uc001wws.2	-	c.1693G>A	c.(1693-1695)GAC>AAC	p.D565N	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.2_Missense_Mutation_p.D565N	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	hypothetical protein LOC55172 isoform 1	565					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)													0.626506	165.314598	166.479475	52	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49169925	49169925	1784	14	C	T	T	32	32	C14orf104	T	2	2
POLE2	5427	broad.mit.edu	36	14	49216247	49216247	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49216247C>T	uc001wwu.1	-	c.191G>A	c.(190-192)CGA>CAA	p.R64Q	SDCCAG1_uc010anj.1_Intron|POLE2_uc001wwv.1_5'UTR	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA polymerase epsilon subunit 2	64					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	DNA binding|DNA-directed DNA polymerase activity			ovary(1)	1	all_epithelial(31;0.0021)|Breast(41;0.0124)													0.231579	48.400665	54.672366	22	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49216247	49216247	12625	14	C	T	T	31	31	POLE2	T	1	1
KLHDC1	122773	broad.mit.edu	36	14	49288107	49288107	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49288107C>A	uc001www.1	+	c.1088C>A	c.(1087-1089)TCT>TAT	p.S363Y	SDCCAG1_uc010anj.1_Intron	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	363						cytoplasm				pancreas(1)	1	all_epithelial(31;0.00244)|Breast(41;0.00964)													0.314286	52.516974	54.669688	22	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49288107	49288107	8666	14	C	A	A	32	32	KLHDC1	A	3	3
SDCCAG1	9147	broad.mit.edu	36	14	49336976	49336976	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49336976C>T	uc010anj.1	-	c.2284G>A	c.(2284-2286)GAT>AAT	p.D762N	SDCCAG1_uc001wwz.1_5'Flank|SDCCAG1_uc001wxa.1_Missense_Mutation_p.D42N|SDCCAG1_uc001wxb.1_Missense_Mutation_p.D167N|SDCCAG1_uc001wxc.1_Missense_Mutation_p.D762N|SDCCAG1_uc001wxd.1_Missense_Mutation_p.D167N	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	762						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)												0.533333	283.193275	283.36585	96	84	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	Missense_Mutation	SNP	49336976	49336976	14442	14	C	T	T	30	30	SDCCAG1	T	2	2
SDCCAG1	9147	broad.mit.edu	36	14	49351267	49351267	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49351267C>A	uc010anj.1	-	c.1636G>T	c.(1636-1638)GAT>TAT	p.D546Y	SDCCAG1_uc001wxb.1_5'UTR|SDCCAG1_uc001wxc.1_Missense_Mutation_p.D546Y|SDCCAG1_uc001wxd.1_5'UTR	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	546						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)												0.587629	165.882941	166.533065	57	40	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	Missense_Mutation	SNP	49351267	49351267	14442	14	C	A	A	32	32	SDCCAG1	A	3	3
SDCCAG1	9147	broad.mit.edu	36	14	49365849	49365849	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49365849C>T	uc010anj.1	-	c.991G>A	c.(991-993)GAA>AAA	p.E331K	SDCCAG1_uc001wxc.1_Missense_Mutation_p.E331K|SDCCAG1_uc001wxd.1_5'UTR|SDCCAG1_uc010anq.1_Missense_Mutation_p.E102K|SDCCAG1_uc001wxe.1_Missense_Mutation_p.E289K	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	331						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)												0.875	242.712849	254.793037	77	11	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	Missense_Mutation	SNP	49365849	49365849	14442	14	C	T	T	31	31	SDCCAG1	T	1	1
SDCCAG1	9147	broad.mit.edu	36	14	49388078	49388078	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49388078C>T	uc010anj.1	-	c.184G>A	c.(184-186)GAA>AAA	p.E62K	SDCCAG1_uc001wxc.1_Missense_Mutation_p.E62K|SDCCAG1_uc010anq.1_5'UTR|SDCCAG1_uc001wxe.1_Missense_Mutation_p.E62K	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	62						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)												0.206897	81.893574	95.755478	36	138	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	Missense_Mutation	SNP	49388078	49388078	14442	14	C	T	T	32	32	SDCCAG1	T	2	2
SOS2	6655	broad.mit.edu	36	14	49667175	49667175	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49667175C>T	uc001wxs.2	-	c.3131G>A	c.(3130-3132)CGA>CAA	p.R1044Q	SOS2_uc010ans.1_5'UTR	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1044					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)													0.340136	131.707783	135.027194	50	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49667175	49667175	15437	14	C	T	T	31	31	SOS2	T	1	1
SOS2	6655	broad.mit.edu	36	14	49681736	49681736	+	Missense_Mutation	SNP	G	T	T	rs7494370	by-cluster	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49681736G>T	uc001wxs.2	-	c.2569C>A	c.(2569-2571)CTG>ATG	p.L857M		NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	857	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)													0.242647	70.295953	78.518991	33	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49681736	49681736	15437	14	G	T	T	33	33	SOS2	T	3	3
SOS2	6655	broad.mit.edu	36	14	49696031	49696031	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49696031G>A	uc001wxs.2	-	c.1720C>T	c.(1720-1722)CGT>TGT	p.R574C	SOS2_uc001wxt.2_Missense_Mutation_p.R262C	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	574					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)													0.51341	392.030534	392.070731	134	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49696031	49696031	15437	14	G	A	A	37	37	SOS2	A	1	1
SOS2	6655	broad.mit.edu	36	14	49696398	49696398	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49696398G>A	uc001wxs.2	-	c.1353C>T	c.(1351-1353)ATC>ATT	p.I451I	SOS2_uc001wxt.2_Silent_p.I139I	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	451	PH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)													0.582317	566.598109	568.527311	191	137	GG		KEEP	---	---	---	---	capture			Silent	SNP	49696398	49696398	15437	14	G	A	A	37	37	SOS2	A	1	1
SOS2	6655	broad.mit.edu	36	14	49719068	49719068	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49719068C>T	uc001wxs.2	-	c.721G>A	c.(721-723)GAA>AAA	p.E241K	SOS2_uc001wxt.2_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	241	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)													0.55	129.704908	129.879352	44	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49719068	49719068	15437	14	C	T	T	31	31	SOS2	T	1	1
L2HGDH	79944	broad.mit.edu	36	14	49805707	49805707	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49805707C>T	uc001wxu.1	-	c.830G>A	c.(829-831)CGA>CAA	p.R277Q		NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase precursor	277					2-oxoglutarate metabolic process|cellular protein metabolic process|oxidation-reduction process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)													0.298182	196.473607	206.47131	82	193	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49805707	49805707	8913	14	C	T	T	31	31	L2HGDH	T	1	1
NIN	51199	broad.mit.edu	36	14	50279934	50279934	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:50279934C>T	uc001wyi.1	-	c.5251G>A	c.(5251-5253)GAA>AAA	p.E1751K	NIN_uc001wyj.1_Non-coding_Transcript|NIN_uc001wyk.1_Missense_Mutation_p.E1038K|NIN_uc010anx.1_Missense_Mutation_p.E1757K|NIN_uc001wym.1_Missense_Mutation_p.E1751K|NIN_uc001wyo.1_Missense_Mutation_p.E1751K	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	ninein isoform 2	1751	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	all_epithelial(31;0.00244)|Breast(41;0.127)									745				0.574713	153.956317	154.378728	50	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50279934	50279934	10818	14	C	T	T	30	30	NIN	T	2	2
NIN	51199	broad.mit.edu	36	14	50295015	50295015	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:50295015C>A	uc001wyi.1	-	c.2483G>T	c.(2482-2484)AGG>ATG	p.R828M	NIN_uc001wyj.1_Intron|NIN_uc001wyk.1_Intron|NIN_uc010anx.1_Missense_Mutation_p.R834M|NIN_uc001wym.1_Missense_Mutation_p.R828M|NIN_uc001wyo.1_Missense_Mutation_p.R828M	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	ninein isoform 2	828	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	all_epithelial(31;0.00244)|Breast(41;0.127)									745				0.242857	73.779993	82.222502	34	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50295015	50295015	10818	14	C	A	A	24	24	NIN	A	3	3
C14orf166	51637	broad.mit.edu	36	14	51540684	51540684	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:51540684A>T	uc010aod.1	+	c.554A>T	c.(553-555)AAA>ATA	p.K185I	C14orf166_uc001wzm.2_Missense_Mutation_p.K51I|C14orf166_uc001wzn.2_Missense_Mutation_p.K47I	NM_016039	NP_057123	Q9Y224	CN166_HUMAN	homeobox prox 1	185						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding				0	Breast(41;0.0639)|all_epithelial(31;0.101)													0.221557	74.783327	86.704395	37	130	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51540684	51540684	1804	14	A	T	T	1	1	C14orf166	T	4	4
NID2	22795	broad.mit.edu	36	14	51548150	51548150	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:51548150C>T	uc001wzo.1	-	c.3422G>A	c.(3421-3423)GGC>GAC	p.G1141D		NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1141					bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.326667	259.659805	267.648443	98	202	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51548150	51548150	10816	14	C	T	T	26	26	NID2	T	2	2
NID2	22795	broad.mit.edu	36	14	51578731	51578731	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:51578731G>A	uc001wzo.1	-	c.1667C>T	c.(1666-1668)GCG>GTG	p.A556V	NID2_uc001wzp.1_Missense_Mutation_p.A556V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	556	Nidogen G2 beta-barrel.				bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.562937	455.483012	456.471814	161	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51578731	51578731	10816	14	G	A	A	38	38	NID2	A	1	1
TXNDC16	57544	broad.mit.edu	36	14	52074112	52074112	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:52074112C>A	uc001wzs.1	-	c.272G>T	c.(271-273)AGA>ATA	p.R91I	TXNDC16_uc010aoe.1_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	91					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)													0.2	22.860891	27.888525	12	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52074112	52074112	17351	14	C	A	A	32	32	TXNDC16	A	3	3
STYX	6815	broad.mit.edu	36	14	52294389	52294389	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:52294389A>G	uc001xaa.1	+	c.428A>G	c.(427-429)TAC>TGC	p.Y143C		NM_145251	NP_660294	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	143	Tyrosine-protein phosphatase.				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity				0	Breast(41;0.176)													0.289474	94.938747	99.461164	33	81	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52294389	52294389	15880	14	A	G	G	14	14	STYX	G	4	4
FERMT2	10979	broad.mit.edu	36	14	52394904	52394904	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:52394904C>A	uc001xad.1	-	c.1984G>T	c.(1984-1986)GAC>TAC	p.D662Y	FERMT2_uc001xae.1_Missense_Mutation_p.D662Y|FERMT2_uc001xac.1_Missense_Mutation_p.D219Y	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	662					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)													0.292517	96.45426	102.13263	43	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52394904	52394904	6055	14	C	A	A	32	32	FERMT2	A	3	3
DDHD1	80821	broad.mit.edu	36	14	52599626	52599626	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:52599626G>T	uc001xai.1	-	c.1551C>A	c.(1549-1551)TTC>TTA	p.F517L	DDHD1_uc001xag.1_Missense_Mutation_p.F99L|DDHD1_uc001xah.1_Missense_Mutation_p.F517L|DDHD1_uc001xaj.1_Missense_Mutation_p.F524L|DDHD1_uc001xak.1_5'Flank	NM_030637	NP_085140	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	517					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(1)	1	Breast(41;0.037)													0.299065	149.592174	157.329314	64	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52599626	52599626	4497	14	G	T	T	33	33	DDHD1	T	3	3
SAMD4A	23034	broad.mit.edu	36	14	54238916	54238916	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:54238916G>A	uc001xbb.1	+	c.580G>A	c.(580-582)GAT>AAT	p.D194N	SAMD4A_uc001xba.2_Missense_Mutation_p.D194N|SAMD4A_uc001xbc.1_Missense_Mutation_p.D194N|SAMD4A_uc001xbf.1_Non-coding_Transcript|SAMD4A_uc001xbe.2_Missense_Mutation_p.D94N	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4	195					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0														0.10084	7.105335	26.038575	12	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54238916	54238916	14301	14	G	A	A	41	41	SAMD4A	A	2	2
SAMD4A	23034	broad.mit.edu	36	14	54296758	54296758	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:54296758C>T	uc001xbb.1	+	c.1303C>T	c.(1303-1305)CGT>TGT	p.R435C	SAMD4A_uc001xbc.1_Missense_Mutation_p.R347C|SAMD4A_uc001xbg.1_Missense_Mutation_p.R27C	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4	436					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0														0.209524	42.930254	51.105749	22	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54296758	54296758	14301	14	C	T	T	27	27	SAMD4A	T	1	1
SOCS4	122809	broad.mit.edu	36	14	54580659	54580659	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:54580659C>T	uc001xbo.1	+	c.1147C>T	c.(1147-1149)CGG>TGG	p.R383W	SOCS4_uc001xbp.1_Missense_Mutation_p.R383W|SOCS4_uc010aon.1_Missense_Mutation_p.R383W	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	383	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2														0.321839	143.324852	148.237626	56	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54580659	54580659	15416	14	C	T	T	31	31	SOCS4	T	1	1
LGALS3	3958	broad.mit.edu	36	14	54676789	54676789	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:54676789G>A	uc001xbr.1	+	c.386G>A	c.(385-387)CGC>CAC	p.R129H		NM_002306	NP_002297	P17931	LEG3_HUMAN	galectin 3	129	Galectin.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding				0														0.549296	115.625895	115.775495	39	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54676789	54676789	9068	14	G	A	A	38	38	LGALS3	A	1	1
FBXO34	55030	broad.mit.edu	36	14	54888690	54888690	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:54888690A>G	uc001xbu.1	+	c.1829A>G	c.(1828-1830)GAG>GGG	p.E610G	FBXO34_uc001xbv.2_Non-coding_Transcript|FBXO34_uc010aoo.1_Missense_Mutation_p.E610G	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	610	F-box.									lung(2)|ovary(1)|skin(1)	4														0.3	138.821688	144.179118	45	105	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54888690	54888690	5981	14	A	G	G	11	11	FBXO34	G	4	4
FBXO34	55030	broad.mit.edu	36	14	54888972	54888972	+	Missense_Mutation	SNP	G	A	A	rs10138395	by-cluster,by-frequency,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:54888972G>A	uc001xbu.1	+	c.2111G>A	c.(2110-2112)GGG>GAG	p.G704E	FBXO34_uc001xbv.2_Non-coding_Transcript|FBXO34_uc010aoo.1_Missense_Mutation_p.G704E	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	704										lung(2)|ovary(1)|skin(1)	4														0.209677	31.043855	35.877847	13	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54888972	54888972	5981	14	G	A	A	43	43	FBXO34	A	2	2
TBPL2	387332	broad.mit.edu	36	14	54976906	54976906	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:54976906C>A	uc001xby.1	-	c.111G>T	c.(109-111)GAG>GAT	p.E37D		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	37					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|RNA polymerase II transcription factor activity				0														0.558824	211.989217	212.396263	76	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54976906	54976906	16172	14	C	A	A	32	32	TBPL2	A	3	3
C14orf101	54916	broad.mit.edu	36	14	56155072	56155072	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:56155072G>A	uc001xcm.1	+	c.1064G>A	c.(1063-1065)CGA>CAA	p.R355Q	C14orf101_uc001xcj.1_Non-coding_Transcript|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.1_Non-coding_Transcript|C14orf101_uc001xco.1_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	355						integral to membrane				breast(1)	1														0.269939	105.330693	113.113693	44	119	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(311;0.226)	Missense_Mutation	SNP	56155072	56155072	1782	14	G	A	A	37	37	C14orf101	A	1	1
C14orf105	55195	broad.mit.edu	36	14	57017153	57017153	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:57017153C>A	uc001xcy.2	-	c.568G>T	c.(568-570)GCC>TCC	p.A190S	C14orf105_uc001xcz.2_Missense_Mutation_p.A189S|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.1_Non-coding_Transcript	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	190											0														0.280702	154.288167	164.154948	64	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57017153	57017153	1785	14	C	A	A	28	28	C14orf105	A	3	3
SLC35F4	341880	broad.mit.edu	36	14	57130532	57130532	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:57130532C>T	uc001xdb.1	-	c.275G>A	c.(274-276)GGC>GAC	p.G92D	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001080455	NP_001073924	A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	92					transport	integral to membrane				ovary(2)	2														0.42029	79.657818	80.041501	29	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57130532	57130532	15088	14	C	T	T	26	26	SLC35F4	T	2	2
ACTR10	55860	broad.mit.edu	36	14	57766941	57766941	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:57766941C>T	uc001xdf.1	+	c.860C>T	c.(859-861)TCC>TTC	p.S287F	ACTR10_uc001xdh.1_Missense_Mutation_p.S89F|ACTR10_uc001xdg.1_Missense_Mutation_p.S89F|ACTR10_uc010apb.1_Missense_Mutation_p.S89F|ACTR10_uc001xdi.1_5'UTR|ACTR10_uc010apc.1_Missense_Mutation_p.S77F	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	287						cytoplasm				central_nervous_system(1)	1														0.321678	124.300742	128.338744	46	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57766941	57766941	209	14	C	T	T	30	30	ACTR10	T	2	2
ACTR10	55860	broad.mit.edu	36	14	57768691	57768691	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:57768691G>A	uc001xdf.1	+	c.1025G>A	c.(1024-1026)CGA>CAA	p.R342Q	ACTR10_uc001xdh.1_Missense_Mutation_p.R144Q|ACTR10_uc001xdg.1_Missense_Mutation_p.R144Q|ACTR10_uc010apb.1_Missense_Mutation_p.R144Q|ACTR10_uc001xdi.1_Missense_Mutation_p.R65Q|ACTR10_uc010apc.1_Missense_Mutation_p.R132Q	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	342						cytoplasm				central_nervous_system(1)	1														0.233333	127.16924	142.79864	56	184	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57768691	57768691	209	14	G	A	A	37	37	ACTR10	A	1	1
PSMA3	5684	broad.mit.edu	36	14	57807465	57807465	+	Missense_Mutation	SNP	C	A	A	rs3208869	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:57807465C>A	uc001xdj.1	+	c.719C>A	c.(718-720)GCT>GAT	p.A240D	PSMA3_uc001xdk.1_Missense_Mutation_p.A233D	NM_002788	NP_002779	P25788	PSA3_HUMAN	proteasome alpha 3 subunit isoform 1	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0														0.189189	25.100299	31.795658	14	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57807465	57807465	13121	14	C	A	A	28	28	PSMA3	A	3	3
ARID4A	5926	broad.mit.edu	36	14	57901416	57901416	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:57901416C>T	uc001xdp.1	+	c.2856C>T	c.(2854-2856)ATC>ATT	p.I952I	ARID4A_uc001xdo.1_Silent_p.I952I|ARID4A_uc001xdq.1_Silent_p.I952I|ARID4A_uc010apg.1_Silent_p.I630I	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	952	Retinoblastoma protein binding (Potential).				chromatin assembly or disassembly|negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromatin|transcriptional repressor complex	chromatin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			ovary(3)|lung(1)	4														0.295918	138.949157	146.267786	58	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	57901416	57901416	934	14	C	T	T	31	31	ARID4A	T	1	1
TOMM20L	387990	broad.mit.edu	36	14	57939231	57939231	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:57939231A>G	uc001xdr.1	+	c.261A>G	c.(259-261)AGA>AGG	p.R87R		NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20	87	Cytoplasmic (Potential).				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex					0														0.241379	160.585906	174.739121	56	176	AA		KEEP	---	---	---	---	capture			Silent	SNP	57939231	57939231	16896	14	A	G	G	11	11	TOMM20L	G	4	4
KIAA0586	9786	broad.mit.edu	36	14	58002364	58002364	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:58002364G>T	uc001xdu.2	+	c.2073G>T	c.(2071-2073)AAG>AAT	p.K691N	KIAA0586_uc001xdt.2_Missense_Mutation_p.K662N|KIAA0586_uc001xdv.2_Missense_Mutation_p.K630N	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	630										ovary(1)	1														0.298507	95.435571	100.305927	40	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58002364	58002364	8493	14	G	T	T	33	33	KIAA0586	T	3	3
DACT1	51339	broad.mit.edu	36	14	58178193	58178193	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:58178193C>A	uc001xdw.1	+	c.609C>A	c.(607-609)CTC>CTA	p.L203L	DACT1_uc001xdx.1_Silent_p.L203L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	203					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.281385	148.348226	158.290958	65	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	58178193	58178193	4388	14	C	A	A	32	32	DACT1	A	3	3
DACT1	51339	broad.mit.edu	36	14	58182932	58182932	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:58182932G>A	uc001xdw.1	+	c.1838G>A	c.(1837-1839)CGC>CAC	p.R613H	DACT1_uc001xdx.1_Missense_Mutation_p.R576H	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	613					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.791667	55.733083	57.624379	19	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58182932	58182932	4388	14	G	A	A	38	38	DACT1	A	1	1
DAAM1	23002	broad.mit.edu	36	14	58859489	58859489	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:58859489G>A	uc001xdz.1	+	c.567G>A	c.(565-567)ATG>ATA	p.M189I	DAAM1_uc001xea.1_Missense_Mutation_p.M189I|DAAM1_uc001xeb.1_Missense_Mutation_p.M189I	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	189	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1														0.260163	71.408851	77.846859	32	91	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.165)	Missense_Mutation	SNP	58859489	58859489	4381	14	G	A	A	45	45	DAAM1	A	2	2
RTN1	6252	broad.mit.edu	36	14	59282218	59282218	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:59282218C>T	uc001xen.1	-	c.976G>A	c.(976-978)GAC>AAC	p.D326N		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	326					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4														0.291667	156.74346	165.138074	63	153	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	Missense_Mutation	SNP	59282218	59282218	14205	14	C	T	T	31	31	RTN1	T	1	1
C14orf135	64430	broad.mit.edu	36	14	59651812	59651812	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:59651812A>G	uc001xer.2	+	c.535A>G	c.(535-537)ATC>GTC	p.I179V	C14orf135_uc001xeq.2_Missense_Mutation_p.I179V|C14orf135_uc010apm.1_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	413						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)												0.260606	242.242626	259.333153	86	244	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.127)	Missense_Mutation	SNP	59651812	59651812	1793	14	A	G	G	16	16	C14orf135	G	4	4
C14orf135	64430	broad.mit.edu	36	14	59661093	59661093	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:59661093T>G	uc001xer.2	+	c.1749T>G	c.(1747-1749)ACT>ACG	p.T583T	C14orf135_uc001xeq.2_Silent_p.T583T|C14orf135_uc010apm.1_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	817						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)												0.285266	250.189994	263.393387	91	228	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.127)	Silent	SNP	59661093	59661093	1793	14	T	G	G	56	56	C14orf135	G	4	4
DHRS7	51635	broad.mit.edu	36	14	59690535	59690535	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:59690535C>A	uc001xeu.1	-	c.288G>T	c.(286-288)GAG>GAT	p.E96D	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xes.1_Missense_Mutation_p.E96D|DHRS7_uc001xet.1_Missense_Mutation_p.E46D	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	96					oxidation-reduction process		binding|oxidoreductase activity			ovary(1)	1														0.593023	146.526357	147.174167	51	35	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.121)	Missense_Mutation	SNP	59690535	59690535	4674	14	C	A	A	32	32	DHRS7	A	3	3
C14orf39	317761	broad.mit.edu	36	14	59973330	59973330	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:59973330A>G	uc001xez.2	-	c.1750T>C	c.(1750-1752)TTT>CTT	p.F584L	C14orf39_uc010apo.1_Missense_Mutation_p.F295L	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	584										ovary(2)	2														0.298165	207.09702	215.03069	65	153	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	Missense_Mutation	SNP	59973330	59973330	1822	14	A	G	G	2	2	C14orf39	G	4	4
C14orf39	317761	broad.mit.edu	36	14	59978555	59978555	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:59978555C>A	uc001xez.2	-	c.1551G>T	c.(1549-1551)GAG>GAT	p.E517D	C14orf39_uc010apo.1_Missense_Mutation_p.E228D	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	517										ovary(2)	2														0.298701	118.281665	123.864006	46	108	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	Missense_Mutation	SNP	59978555	59978555	1822	14	C	A	A	28	28	C14orf39	A	3	3
SIX4	51804	broad.mit.edu	36	14	60256861	60256861	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:60256861A>C	uc001xfc.2	-	c.919T>G	c.(919-921)TTA>GTA	p.L307V	SIX4_uc010app.1_Missense_Mutation_p.L299V	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	307						nucleus	transcription regulator activity			breast(3)|ovary(1)	4										127				0.288235	150.321651	157.146996	49	121	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	Missense_Mutation	SNP	60256861	60256861	14844	14	A	C	C	1	1	SIX4	C	4	4
TRMT5	57570	broad.mit.edu	36	14	60515837	60515837	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:60515837C>A	uc001xff.2	-	c.532G>T	c.(532-534)GAA>TAA	p.E178*	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA-(N1G37) methyltransferase	178						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3														0.554455	325.397017	325.91614	112	90	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	Nonsense_Mutation	SNP	60515837	60515837	17117	14	C	A	A	29	29	TRMT5	A	5	3
PRKCH	5583	broad.mit.edu	36	14	60858745	60858745	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:60858745G>A	uc001xfn.1	+	c.173G>A	c.(172-174)AGC>AAC	p.S58N		NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	58	C2.				intracellular signal transduction|platelet activation|protein phosphorylation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)	5						Melanoma(135;863 1779 8064 14443 26348)				381				0.323529	60.223097	62.104665	22	46	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	Missense_Mutation	SNP	60858745	60858745	12956	14	G	A	A	34	34	PRKCH	A	2	2
PRKCH	5583	broad.mit.edu	36	14	61084326	61084326	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:61084326G>A	uc001xfn.1	+	c.1874G>A	c.(1873-1875)CGC>CAC	p.R625H	PRKCH_uc001xfo.1_Non-coding_Transcript	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	625	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation|protein phosphorylation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)	5						Melanoma(135;863 1779 8064 14443 26348)				381				0.579235	587.888442	589.888015	212	154	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	Missense_Mutation	SNP	61084326	61084326	12956	14	G	A	A	38	38	PRKCH	A	1	1
HIF1A	3091	broad.mit.edu	36	14	61270627	61270627	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:61270627T>C	uc001xfs.1	+	c.902T>C	c.(901-903)GTC>GCC	p.V301A	HIF1A_uc001xfq.1_Missense_Mutation_p.V300A|HIF1A_uc001xfr.1_Missense_Mutation_p.V300A	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	300	Interaction with TSGA10 (By similarity).				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|mRNA transcription from RNA polymerase II promoter|oxygen homeostasis|positive regulation of angiogenesis|positive regulation of chemokine production|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription|positive regulation of glycolysis|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|promoter binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulator activity			kidney(3)|lung(1)	4										275				0.26087	84.705232	90.652167	30	85	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Missense_Mutation	SNP	61270627	61270627	7388	14	T	C	C	58	58	HIF1A	C	4	4
SYT16	83851	broad.mit.edu	36	14	61617395	61617395	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:61617395G>A	uc001xfu.1	+	c.1084G>A	c.(1084-1086)GCC>ACC	p.A362T		NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	362	C2 1.									central_nervous_system(1)	1														0.285714	14.538974	15.405957	6	15	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	Missense_Mutation	SNP	61617395	61617395	15993	14	G	A	A	34	34	SYT16	A	2	2
KCNH5	27133	broad.mit.edu	36	14	62338968	62338968	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:62338968G>A	uc001xfx.1	-	c.1654C>T	c.(1654-1656)CGA>TGA	p.R552*	KCNH5_uc001xfy.1_Nonsense_Mutation_p.R552*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.R494*	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	552	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|central_nervous_system(1)	5														0.297297	109.735427	115.177057	44	104	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	Nonsense_Mutation	SNP	62338968	62338968	8340	14	G	A	A	37	37	KCNH5	A	5	1
GPHB5	122876	broad.mit.edu	36	14	62854225	62854225	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:62854225C>T	uc010apu.1	-	c.92G>A	c.(91-93)CGC>CAC	p.R31H	GPHB5_uc001xgc.1_Missense_Mutation_p.R21H	NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	glycoprotein beta 5	31						extracellular region	hormone activity			breast(1)	1														0.6	103.60686	104.13221	36	24	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	Missense_Mutation	SNP	62854225	62854225	6883	14	C	T	T	27	27	GPHB5	T	1	1
SYNE2	23224	broad.mit.edu	36	14	63491312	63491312	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63491312A>G	uc001xgl.1	+	c.713A>G	c.(712-714)AAC>AGC	p.N238S	SYNE2_uc001xgk.2_Missense_Mutation_p.N238S|SYNE2_uc001xgm.1_Missense_Mutation_p.N238S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	238	Potential.|CH 2.|Cytoplasmic (Potential).|Actin-binding.				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														0.315789	130.111118	134.120398	42	91	AA		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63491312	63491312	15967	14	A	G	G	2	2	SYNE2	G	4	4
SYNE2	23224	broad.mit.edu	36	14	63498080	63498080	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63498080C>A	uc001xgl.1	+	c.872C>A	c.(871-873)ACT>AAT	p.T291N	SYNE2_uc001xgm.1_Missense_Mutation_p.T291N	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	291	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														0.349206	60.027078	61.292942	22	41	CC		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63498080	63498080	15967	14	C	A	A	20	20	SYNE2	A	3	3
SYNE2	23224	broad.mit.edu	36	14	63515421	63515421	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63515421T>C	uc001xgl.1	+	c.1505T>C	c.(1504-1506)TTG>TCG	p.L502S	SYNE2_uc001xgm.1_Missense_Mutation_p.L502S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	502	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														0.595628	376.108987	377.574073	109	74	TT		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63515421	63515421	15967	14	T	C	C	63	63	SYNE2	C	4	4
SYNE2	23224	broad.mit.edu	36	14	63522943	63522943	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63522943A>T	uc001xgl.1	+	c.2168A>T	c.(2167-2169)GAA>GTA	p.E723V	SYNE2_uc001xgm.1_Missense_Mutation_p.E723V	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	723	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														0.320988	61.91111	64.222622	26	55	AA		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63522943	63522943	15967	14	A	T	T	9	9	SYNE2	T	4	4
SYNE2	23224	broad.mit.edu	36	14	63543570	63543570	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63543570G>T	uc001xgl.1	+	c.4454G>T	c.(4453-4455)AGA>ATA	p.R1485I	SYNE2_uc001xgm.1_Missense_Mutation_p.R1485I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1485	Potential.|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														0.285124	159.352182	169.396955	69	173	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63543570	63543570	15967	14	G	T	T	33	33	SYNE2	T	3	3
SYNE2	23224	broad.mit.edu	36	14	63564161	63564161	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63564161C>T	uc001xgl.1	+	c.6611C>T	c.(6610-6612)TCT>TTT	p.S2204F	SYNE2_uc001xgm.1_Missense_Mutation_p.S2204F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2204	Potential.|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														0.644444	281.156833	283.638011	87	48	CC		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63564161	63564161	15967	14	C	T	T	32	32	SYNE2	T	2	2
SYNE2	23224	broad.mit.edu	36	14	63590052	63590052	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63590052C>T	uc001xgl.1	+	c.9668C>T	c.(9667-9669)GCG>GTG	p.A3223V	SYNE2_uc001xgm.1_Missense_Mutation_p.A3223V|SYNE2_uc010apw.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3223	Potential.|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														0.595238	216.5461	217.549547	75	51	CC		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63590052	63590052	15967	14	C	T	T	27	27	SYNE2	T	1	1
SYNE2	23224	broad.mit.edu	36	14	63617048	63617048	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63617048C>A	uc001xgl.1	+	c.11285C>A	c.(11284-11286)CCT>CAT	p.P3762H	SYNE2_uc001xgm.1_Missense_Mutation_p.P3762H|SYNE2_uc010apy.1_Missense_Mutation_p.P124H|SYNE2_uc010apx.1_Missense_Mutation_p.P154H	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3762	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														0.577381	280.375436	281.24954	97	71	CC		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63617048	63617048	15967	14	C	A	A	24	24	SYNE2	A	3	3
ESR2	2100	broad.mit.edu	36	14	63819145	63819145	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63819145C>T	uc001xha.1	-	c.312G>A	c.(310-312)AAG>AAA	p.K104K	ESR2_uc001xgv.1_Silent_p.K104K|ESR2_uc001xgw.1_Non-coding_Transcript|ESR2_uc001xgx.1_Silent_p.K104K|ESR2_uc001xgu.1_Silent_p.K104K|ESR2_uc001xgy.1_Silent_p.K104K|ESR2_uc001xgz.1_Silent_p.K104K|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Silent_p.K104K	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	104	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3					Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)					196				0.238636	103.654517	114.639495	42	134	CC		KEEP	---	---	---	---	capture		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Silent	SNP	63819145	63819145	5450	14	C	T	T	32	32	ESR2	T	2	2
ZBTB25	7597	broad.mit.edu	36	14	64024404	64024404	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64024404G>A	uc001xhf.1	-	c.298C>T	c.(298-300)CGA>TGA	p.R100*	ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.1_Nonsense_Mutation_p.R100*	NM_006977	NP_008908	P24278	ZBT25_HUMAN	zinc finger protein 46	100	BTB.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.622857	327.394017	329.708214	109	66	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	Nonsense_Mutation	SNP	64024404	64024404	18118	14	G	A	A	37	37	ZBTB25	A	5	1
ZBTB1	22890	broad.mit.edu	36	14	64059146	64059146	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64059146C>T	uc001xhh.2	+	c.1171C>T	c.(1171-1173)CGA>TGA	p.R391*	ZBTB1_uc010aqg.1_Nonsense_Mutation_p.R391*|ZBTB1_uc001xhi.2_Nonsense_Mutation_p.R391*	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)												0.597015	120.006154	120.556486	40	27	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	Nonsense_Mutation	SNP	64059146	64059146	18108	14	C	T	T	31	31	ZBTB1	T	5	1
HSPA2	3306	broad.mit.edu	36	14	64077528	64077528	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64077528G>A	uc001xhj.2	+	c.208G>A	c.(208-210)GAC>AAC	p.D70N	HSPA2_uc001xhk.2_Missense_Mutation_p.D70N	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	70					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1						Pancreas(136;1211 1835 24894 31984 38227)								0.408451	79.460752	79.980593	29	42	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	Missense_Mutation	SNP	64077528	64077528	7710	14	G	A	A	37	37	HSPA2	A	1	1
HSPA2	3306	broad.mit.edu	36	14	64077714	64077714	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64077714G>A	uc001xhj.2	+	c.394G>A	c.(394-396)GCG>ACG	p.A132T	HSPA2_uc001xhk.2_Missense_Mutation_p.A132T	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	132					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1						Pancreas(136;1211 1835 24894 31984 38227)								0.4375	74.885626	75.104091	28	36	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	Missense_Mutation	SNP	64077714	64077714	7710	14	G	A	A	38	38	HSPA2	A	1	1
HSPA2	3306	broad.mit.edu	36	14	64077824	64077824	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64077824C>T	uc001xhj.2	+	c.504C>T	c.(502-504)CTC>CTT	p.L168L	HSPA2_uc001xhk.2_Silent_p.L168L	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	168					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1						Pancreas(136;1211 1835 24894 31984 38227)								0.314607	64.127863	66.874337	28	61	CC		KEEP	---	---	---	---	capture		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	Silent	SNP	64077824	64077824	7710	14	C	T	T	29	29	HSPA2	T	2	2
HSPA2	3306	broad.mit.edu	36	14	64077983	64077983	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64077983G>T	uc001xhj.2	+	c.663G>T	c.(661-663)GAG>GAT	p.E221D	HSPA2_uc001xhk.2_Missense_Mutation_p.E221D	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	221					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1						Pancreas(136;1211 1835 24894 31984 38227)								0.287582	101.926025	108.125672	44	109	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	Missense_Mutation	SNP	64077983	64077983	7710	14	G	T	T	35	35	HSPA2	T	3	3
C14orf50	145376	broad.mit.edu	36	14	64087405	64087405	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64087405G>A	uc001xhl.1	+	c.83G>A	c.(82-84)CGA>CAA	p.R28Q		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	28											0														0.493506	111.545302	111.548156	38	39	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Missense_Mutation	SNP	64087405	64087405	1827	14	G	A	A	37	37	C14orf50	A	1	1
PLEKHG3	26030	broad.mit.edu	36	14	64268625	64268625	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64268625G>T	uc001xho.1	+	c.1185G>T	c.(1183-1185)GAG>GAT	p.E395D	PLEKHG3_uc001xhn.1_Missense_Mutation_p.E339D|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	395					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0														0.477064	133.291531	133.346481	52	57	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	Missense_Mutation	SNP	64268625	64268625	12496	14	G	T	T	33	33	PLEKHG3	T	3	3
SPTB	6710	broad.mit.edu	36	14	64315648	64315648	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64315648G>A	uc001xhr.1	-	c.4543C>T	c.(4543-4545)CTG>TTG	p.L1515L	SPTB_uc001xhs.1_Silent_p.L1515L|SPTB_uc001xht.1_Silent_p.L1515L|SPTB_uc001xhu.1_Silent_p.L1515L|SPTB_uc010aqi.1_Silent_p.L176L	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	1515	Spectrin 12.				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)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)												0.230769	28.872063	32.326948	12	40	GG		KEEP	---	---	---	---	capture		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	Silent	SNP	64315648	64315648	15632	14	G	A	A	36	36	SPTB	A	2	2
SPTB	6710	broad.mit.edu	36	14	64330020	64330020	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64330020G>A	uc001xhr.1	-	c.2114C>T	c.(2113-2115)GCG>GTG	p.A705V	SPTB_uc001xhs.1_Missense_Mutation_p.A705V|SPTB_uc001xht.1_Missense_Mutation_p.A705V|SPTB_uc001xhu.1_Missense_Mutation_p.A705V	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	705	Spectrin 4.				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)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)												0.356164	66.826545	68.158202	26	47	GG		KEEP	---	---	---	---	capture		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	Missense_Mutation	SNP	64330020	64330020	15632	14	G	A	A	38	38	SPTB	A	1	1
SPTB	6710	broad.mit.edu	36	14	64331960	64331960	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64331960G>A	uc001xhr.1	-	c.1492C>T	c.(1492-1494)CGC>TGC	p.R498C	SPTB_uc001xhs.1_Missense_Mutation_p.R498C|SPTB_uc001xht.1_Missense_Mutation_p.R498C|SPTB_uc001xhu.1_Missense_Mutation_p.R498C	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	498	Spectrin 2.				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)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)												0.265193	106.538558	115.547558	48	133	GG		KEEP	---	---	---	---	capture		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	Missense_Mutation	SNP	64331960	64331960	15632	14	G	A	A	38	38	SPTB	A	1	1
SPTB	6710	broad.mit.edu	36	14	64338730	64338730	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64338730G>A	uc001xhr.1	-	c.533C>T	c.(532-534)GCG>GTG	p.A178V	SPTB_uc001xhs.1_Missense_Mutation_p.A178V|SPTB_uc001xht.1_Missense_Mutation_p.A178V|SPTB_uc001xhu.1_Missense_Mutation_p.A178V	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	178	Actin-binding.|CH 2.				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)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)										OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.275	53.414179	57.062735	22	58	GG		KEEP	---	---	---	---	capture		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	Missense_Mutation	SNP	64338730	64338730	15632	14	G	A	A	38	38	SPTB	A	1	1
GPX2	2877	broad.mit.edu	36	14	64476030	64476030	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64476030G>A	uc001xhx.1	-	c.502C>T	c.(502-504)CGC>TGC	p.R168C	GPX2_uc001xhy.1_Non-coding_Transcript	NM_002083	NP_002074	P18283	GPX2_HUMAN	glutathione peroxidase 2	168					oxidation-reduction process|response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			ovary(1)	1					Glutathione(DB00143)									0.311828	205.034935	213.826186	87	192	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Missense_Mutation	SNP	64476030	64476030	7016	14	G	A	A	40	40	GPX2	A	1	1
RAB15	376267	broad.mit.edu	36	14	64488110	64488110	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64488110G>A	uc001xhz.1	-	c.210C>T	c.(208-210)TAC>TAT	p.Y70Y	RAB15_uc010aqk.1_Non-coding_Transcript	NM_198686	NP_941959	P59190	RAB15_HUMAN	RAB15, member RAS onocogene family	70					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)	1										368				0.225131	91.816662	105.082735	43	148	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	Silent	SNP	64488110	64488110	13360	14	G	A	A	44	44	RAB15	A	2	2
ARG2	384	broad.mit.edu	36	14	67184615	67184615	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:67184615G>A	uc001xjs.1	+	c.821G>A	c.(820-822)CGA>CAA	p.R274Q		NM_001172	NP_001163	P78540	ARGI2_HUMAN	arginase 2 precursor	274					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding				0					L-Arginine(DB00125)|L-Ornithine(DB00129)									0.555556	189.582162	189.897177	65	52	GG		KEEP	---	---	---	---	capture		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	Missense_Mutation	SNP	67184615	67184615	869	14	G	A	A	37	37	ARG2	A	1	1
ZFYVE26	23503	broad.mit.edu	36	14	67299162	67299162	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:67299162A>G	uc001xka.1	-	c.6139T>C	c.(6139-6141)TAC>CAC	p.Y2047H	ZFYVE26_uc001xkb.2_5'Flank|ZFYVE26_uc001xkc.2_Missense_Mutation_p.Y2047H	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2047					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(9)|breast(2)	11														0.263566	99.906534	106.417007	34	95	AA		KEEP	---	---	---	---	capture		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	Missense_Mutation	SNP	67299162	67299162	18258	14	A	G	G	14	14	ZFYVE26	G	4	4
ZFYVE26	23503	broad.mit.edu	36	14	67319490	67319490	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:67319490G>A	uc001xka.1	-	c.4132C>T	c.(4132-4134)CGA>TGA	p.R1378*	ZFYVE26_uc001xkc.2_Nonsense_Mutation_p.R1378*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1378					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(9)|breast(2)	11														0.184211	49.509048	63.735075	28	124	GG		KEEP	---	---	---	---	capture		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	Nonsense_Mutation	SNP	67319490	67319490	18258	14	G	A	A	38	38	ZFYVE26	A	5	1
DCAF5	8816	broad.mit.edu	36	14	68591006	68591006	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:68591006G>A	uc001xkp.1	-	c.2150C>T	c.(2149-2151)GCC>GTC	p.A717V	DCAF5_uc001xkq.1_Missense_Mutation_p.A716V	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	717					protein ubiquitination	CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2														0.259459	224.836948	244.225391	96	274	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68591006	68591006	4444	14	G	A	A	42	42	DCAF5	A	2	2
EXD2	55218	broad.mit.edu	36	14	68765521	68765521	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:68765521G>A	uc001xkv.1	+	c.569G>A	c.(568-570)CGA>CAA	p.R190Q	EXD2_uc001xkt.1_Missense_Mutation_p.R65Q|EXD2_uc001xku.1_5'UTR|EXD2_uc001xkw.1_Missense_Mutation_p.R65Q|EXD2_uc001xkx.2_Non-coding_Transcript|EXD2_uc010aqt.1_Missense_Mutation_p.R190Q|EXD2_uc001xky.1_Missense_Mutation_p.R65Q	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	65	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0														0.244094	66.756224	74.343311	31	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68765521	68765521	5491	14	G	A	A	37	37	EXD2	A	1	1
SMOC1	64093	broad.mit.edu	36	14	69559775	69559775	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:69559775G>T	uc001xlt.1	+	c.1149G>T	c.(1147-1149)GAG>GAT	p.E383D	SMOC1_uc001xls.1_Missense_Mutation_p.E383D	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	383	EF-hand 1.|1 (Potential).				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			pancreas(1)	1														0.276042	117.571073	126.256902	53	139	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	Missense_Mutation	SNP	69559775	69559775	15301	14	G	T	T	33	33	SMOC1	T	3	3
ADAM21	8747	broad.mit.edu	36	14	69994518	69994518	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:69994518A>C	uc001xmd.1	+	c.549A>C	c.(547-549)CAA>CAC	p.Q183H		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	183					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)	1														0.60452	364.645664	366.336762	107	70	AA		KEEP	---	---	---	---	capture		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	Missense_Mutation	SNP	69994518	69994518	244	14	A	C	C	2	2	ADAM21	C	4	4
ADAM20	8748	broad.mit.edu	36	14	70060376	70060376	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:70060376A>C	uc001xme.1	-	c.1002T>G	c.(1000-1002)AAT>AAG	p.N334K	ADAM20_uc010ard.1_Missense_Mutation_p.N334K	NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	284	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1														0.261438	117.534939	125.4114	40	113	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	Missense_Mutation	SNP	70060376	70060376	243	14	A	C	C	4	4	ADAM20	C	4	4
MED6	10001	broad.mit.edu	36	14	70127819	70127819	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:70127819C>T	uc001xmf.1	-	c.499G>A	c.(499-501)GAA>AAA	p.E167K		NM_005466	NP_005457	O75586	MED6_HUMAN	mediator of RNA polymerase II transcription,	167					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity|transcription coactivator activity				0														0.240506	94.964384	104.678046	38	120	CC		KEEP	---	---	---	---	capture		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	Missense_Mutation	SNP	70127819	70127819	9840	14	C	T	T	32	32	MED6	T	2	2
MED6	10001	broad.mit.edu	36	14	70134154	70134154	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:70134154G>T	uc001xmf.1	-	c.116C>A	c.(115-117)CCT>CAT	p.P39H	MED6_uc001xmg.1_Missense_Mutation_p.P39H	NM_005466	NP_005457	O75586	MED6_HUMAN	mediator of RNA polymerase II transcription,	39					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity|transcription coactivator activity				0														0.243421	80.889417	90.019515	37	115	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	Missense_Mutation	SNP	70134154	70134154	9840	14	G	T	T	35	35	MED6	T	3	3
PCNX	22990	broad.mit.edu	36	14	70514605	70514605	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:70514605G>A	uc001xmo.2	+	c.1798G>A	c.(1798-1800)GAA>AAA	p.E600K	PCNX_uc001xmn.2_Missense_Mutation_p.E600K|PCNX_uc010are.1_Missense_Mutation_p.E600K	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	600						integral to membrane				ovary(1)	1														0.52	265.418074	265.478448	91	84	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	Missense_Mutation	SNP	70514605	70514605	12011	14	G	A	A	37	37	PCNX	A	1	1
PCNX	22990	broad.mit.edu	36	14	70548000	70548000	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:70548000G>A	uc001xmo.2	+	c.2759G>A	c.(2758-2760)CGA>CAA	p.R920Q	PCNX_uc001xmn.2_3'UTR|PCNX_uc010are.1_Missense_Mutation_p.R814Q|PCNX_uc010arf.1_5'Flank	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	920						integral to membrane				ovary(1)	1														0.285714	74.102329	78.43197	30	75	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	Missense_Mutation	SNP	70548000	70548000	12011	14	G	A	A	37	37	PCNX	A	1	1
PCNX	22990	broad.mit.edu	36	14	70549630	70549630	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:70549630G>A	uc001xmo.2	+	c.2954G>A	c.(2953-2955)GGC>GAC	p.G985D	PCNX_uc010are.1_Missense_Mutation_p.G874D|PCNX_uc010arf.1_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	985						integral to membrane				ovary(1)	1														0.224638	136.491661	155.734405	62	214	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	Missense_Mutation	SNP	70549630	70549630	12011	14	G	A	A	42	42	PCNX	A	2	2
SIPA1L1	26037	broad.mit.edu	36	14	71155284	71155284	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:71155284G>A	uc001xms.1	+	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	SIPA1L1_uc001xmt.1_Missense_Mutation_p.R519Q|SIPA1L1_uc001xmu.1_Missense_Mutation_p.R519Q|SIPA1L1_uc001xmv.1_Missense_Mutation_p.R519Q	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	519					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4														0.273437	79.863367	85.790732	35	93	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	Missense_Mutation	SNP	71155284	71155284	14824	14	G	A	A	37	37	SIPA1L1	A	1	1
RGS6	9628	broad.mit.edu	36	14	71501333	71501333	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:71501333C>T	uc001xmy.2	+	c.72C>T	c.(70-72)ATC>ATT	p.I24I	RGS6_uc001xna.2_Silent_p.I24I|RGS6_uc001xmx.2_Silent_p.I24I	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	24					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)	2						Ovarian(143;1926 2468 21071 48641)								0.619048	191.790248	193.095998	65	40	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	71501333	71501333	13783	14	C	T	T	31	31	RGS6	T	1	1
RGS6	9628	broad.mit.edu	36	14	71994760	71994760	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:71994760C>T	uc001xmy.2	+	c.264C>T	c.(262-264)ATC>ATT	p.I88I	RGS6_uc001xna.2_Silent_p.I88I|RGS6_uc001xmx.2_Silent_p.I88I|RGS6_uc010arg.1_Non-coding_Transcript|RGS6_uc001xmz.1_5'Flank	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	88	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)	2						Ovarian(143;1926 2468 21071 48641)								0.268156	116.612312	125.304201	48	131	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	71994760	71994760	13783	14	C	T	T	31	31	RGS6	T	1	1
RGS6	9628	broad.mit.edu	36	14	72014746	72014746	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:72014746A>G	uc001xmy.2	+	c.810A>G	c.(808-810)GCA>GCG	p.A270A	RGS6_uc001xna.2_Silent_p.A270A|RGS6_uc001xmx.2_Silent_p.A270A|RGS6_uc001xmz.1_Silent_p.A131A	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	270	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)	2						Ovarian(143;1926 2468 21071 48641)								0.297872	36.53288	38.248889	14	33	AA		KEEP	---	---	---	---	capture		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)	Silent	SNP	72014746	72014746	13783	14	A	G	G	6	6	RGS6	G	4	4
DPF3	8110	broad.mit.edu	36	14	72260116	72260116	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:72260116C>T	uc001xnc.2	-	c.503G>A	c.(502-504)CGA>CAA	p.R168Q	DPF3_uc001xne.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.R168Q|DPF3_uc001xnd.1_Non-coding_Transcript	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	168					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1														0.280335	165.399148	175.785467	67	172	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	Missense_Mutation	SNP	72260116	72260116	4902	14	C	T	T	31	31	DPF3	T	1	1
DPF3	8110	broad.mit.edu	36	14	72308200	72308200	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:72308200C>A	uc001xnc.2	-	c.187G>T	c.(187-189)GGC>TGC	p.G63C	DPF3_uc001xne.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.G63C	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	63					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1														0.563492	205.322682	205.762949	71	55	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	Missense_Mutation	SNP	72308200	72308200	4902	14	C	A	A	24	24	DPF3	A	3	3
ZFYVE1	53349	broad.mit.edu	36	14	72534463	72534463	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:72534463C>T	uc001xnm.1	-	c.797G>A	c.(796-798)CGA>CAA	p.R266Q	ZFYVE1_uc010arj.1_Missense_Mutation_p.R266Q	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	266						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding				0		all_lung(585;1.33e-09)												0.342105	102.99812	105.505587	39	75	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	Missense_Mutation	SNP	72534463	72534463	18253	14	C	T	T	31	31	ZFYVE1	T	1	1
RBM25	58517	broad.mit.edu	36	14	72642716	72642716	+	Silent	SNP	T	G	G	rs3208311	unknown	TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:72642716T>G	uc001xno.1	+	c.1437T>G	c.(1435-1437)GCT>GCG	p.A479A	RBM25_uc001xnp.1_Silent_p.A274A	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	479	Necessary for nuclear speckle localization.|Glu-rich.|Arg-rich.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4														0.407407	65.340597	65.744685	22	32	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	Silent	SNP	72642716	72642716	13587	14	T	G	G	55	55	RBM25	G	4	4
PAPLN	89932	broad.mit.edu	36	14	72798953	72798953	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:72798953G>A	uc001xnw.2	+	c.2307G>A	c.(2305-2307)TCG>TCA	p.S769S	PAPLN_uc010arm.1_5'UTR|PAPLN_uc010arn.1_5'UTR	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	796	BPTI/Kunitz inhibitor.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.277778	13.767028	14.566931	5	13	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	Silent	SNP	72798953	72798953	11845	14	G	A	A	39	39	PAPLN	A	1	1
PAPLN	89932	broad.mit.edu	36	14	72800691	72800691	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:72800691G>A	uc001xnw.2	+	c.2800G>A	c.(2800-2802)GGA>AGA	p.G934R	PAPLN_uc010arm.1_Missense_Mutation_p.G160R|PAPLN_uc010arn.1_Missense_Mutation_p.G161R	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	961	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.233333	78.741992	88.516258	35	115	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	Missense_Mutation	SNP	72800691	72800691	11845	14	G	A	A	39	39	PAPLN	A	1	1
ACOT4	122970	broad.mit.edu	36	14	73132032	73132032	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73132032A>C	uc001xoo.1	+	c.1187A>C	c.(1186-1188)GAA>GCA	p.E396A		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	peroxisomal acyl-CoA thioesterase 2B	396					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0														0.27027	144.276125	153.078093	50	135	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00331)	Missense_Mutation	SNP	73132032	73132032	154	14	A	C	C	9	9	ACOT4	C	4	4
ACOT6	641372	broad.mit.edu	36	14	73156171	73156171	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73156171G>C	uc001xop.1	+	c.499G>C	c.(499-501)GCA>CCA	p.A167P		NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	167						cytosol	carboxylesterase activity				0														0.186916	48.351291	58.163646	20	87	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00331)	Missense_Mutation	SNP	73156171	73156171	155	14	G	C	C	42	42	ACOT6	C	3	3
FAM161B	145483	broad.mit.edu	36	14	73470729	73470729	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73470729G>T	uc001xpd.1	-	c.1927C>A	c.(1927-1929)CTC>ATC	p.L643I		NM_152445	NP_689658	Q96MY7	F161B_HUMAN	hypothetical protein LOC145483	643										ovary(1)	1														0.578059	392.873184	394.126852	137	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73470729	73470729	5677	14	G	T	T	33	33	FAM161B	T	3	3
COQ6	51004	broad.mit.edu	36	14	73495949	73495949	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73495949A>C	uc001xph.1	+	c.862A>C	c.(862-864)AAA>CAA	p.K288Q	ENTPD5_uc001xpi.2_3'UTR|COQ6_uc001xpe.1_Missense_Mutation_p.K213Q|COQ6_uc001xpf.1_Missense_Mutation_p.K213Q|COQ6_uc001xpg.1_Missense_Mutation_p.K288Q	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	288					oxidation-reduction process|ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide 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				0														0.567686	453.455844	454.368236	130	99	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00337)	Missense_Mutation	SNP	73495949	73495949	3887	14	A	C	C	1	1	COQ6	C	4	4
ALDH6A1	4329	broad.mit.edu	36	14	73597126	73597126	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73597126G>T	uc001xpo.1	-	c.1580C>A	c.(1579-1581)GCT>GAT	p.A527D	C14orf45_uc001xpl.2_Intron|C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.1_Missense_Mutation_p.A372D	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	527					oxidation-reduction process	mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0					NADH(DB00157)									0.169399	52.401583	71.345784	31	152	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00354)	Missense_Mutation	SNP	73597126	73597126	506	14	G	T	T	34	34	ALDH6A1	T	3	3
ABCD4	5826	broad.mit.edu	36	14	73823214	73823214	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73823214G>A	uc001xpr.1	-	c.1695C>T	c.(1693-1695)ATC>ATT	p.I565I	ABCD4_uc001xps.1_Silent_p.I406I|ABCD4_uc001xpt.1_Silent_p.I406I	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	565	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			large_intestine(1)	1														0.25	59.899475	65.809263	26	78	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00153)	Silent	SNP	73823214	73823214	64	14	G	A	A	37	37	ABCD4	A	1	1
TMEM90A	646658	broad.mit.edu	36	14	73945994	73945994	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73945994C>T	uc001xpx.2	-	c.207G>A	c.(205-207)CGG>CGA	p.R69R		NM_001105579	NP_001099049	A6NDD5	TM90A_HUMAN	transmembrane protein 90A	69					response to biotic stimulus	Golgi apparatus|integral to membrane					0														0.608696	121.414647	122.158428	42	27	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00159)	Silent	SNP	73945994	73945994	16758	14	C	T	T	26	26	TMEM90A	T	2	2
LTBP2	4053	broad.mit.edu	36	14	74058383	74058383	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74058383C>T	uc001xqa.1	-	c.2772G>A	c.(2770-2772)GCG>GCA	p.A924A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	924	EGF-like 5; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1														0.544	194.693891	194.903856	68	57	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	Silent	SNP	74058383	74058383	9450	14	C	T	T	31	31	LTBP2	T	1	1
KIAA0317	9870	broad.mit.edu	36	14	74212596	74212596	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74212596C>T	uc001xqb.1	-	c.832_splice	c.e7+1	p.E278_splice	KIAA0317_uc001xqc.1_Splice_Site_SNP_p.E278_splice	NM_001039479	NP_001034568			hypothetical protein LOC9870						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5														0.244898	51.145314	56.961133	24	74	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00404)	Splice_Site_SNP	SNP	74212596	74212596	8474	14	C	T	T	18	18	KIAA0317	T	5	2
KIAA0317	9870	broad.mit.edu	36	14	74219882	74219882	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74219882G>A	uc001xqb.1	-	c.351C>T	c.(349-351)GTC>GTT	p.V117V	KIAA0317_uc001xqc.1_Silent_p.V117V|KIAA0317_uc001xqd.1_Non-coding_Transcript	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	117	Filamin.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5														0.309609	229.016022	238.094217	87	194	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00404)	Silent	SNP	74219882	74219882	8474	14	G	A	A	41	41	KIAA0317	A	2	2
YLPM1	56252	broad.mit.edu	36	14	74300267	74300267	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74300267C>T	uc001xqj.2	+	c.322C>T	c.(322-324)CCC>TCC	p.P108S		NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	108	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3														0.321429	20.662138	21.45683	9	19	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	Missense_Mutation	SNP	74300267	74300267	18069	14	C	T	T	26	26	YLPM1	T	2	2
YLPM1	56252	broad.mit.edu	36	14	74335723	74335723	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74335723C>T	uc001xqj.2	+	c.3970C>T	c.(3970-3972)CGT>TGT	p.R1324C	YLPM1_uc001xql.2_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1129	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3														0.52381	158.619668	158.671005	55	50	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	Missense_Mutation	SNP	74335723	74335723	18069	14	C	T	T	31	31	YLPM1	T	1	1
YLPM1	56252	broad.mit.edu	36	14	74339090	74339090	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74339090A>G	uc001xqj.2	+	c.4479A>G	c.(4477-4479)GAA>GAG	p.E1493E	YLPM1_uc001xql.2_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3														0.637363	203.674186	205.186042	58	33	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	Silent	SNP	74339090	74339090	18069	14	A	G	G	4	4	YLPM1	G	4	4
PROX2	283571	broad.mit.edu	36	14	74394909	74394909	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74394909C>T	uc001xqr.1	-	c.1367G>A	c.(1366-1368)CGA>CAA	p.R456Q	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	456	Prospero-type homeobox.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0														0.2	7.992043	9.663923	4	16	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	Missense_Mutation	SNP	74394909	74394909	13004	14	C	T	T	31	31	PROX2	T	1	1
DLST	1743	broad.mit.edu	36	14	74430807	74430807	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74430807C>A	uc001xqv.1	+	c.712C>A	c.(712-714)CTG>ATG	p.L238M	DLST_uc001xqs.1_Non-coding_Transcript|DLST_uc001xqt.1_Missense_Mutation_p.L154M|DLST_uc001xqu.1_Missense_Mutation_p.L150M	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	238					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1														0.235808	109.512468	124.150075	54	175	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00698)	Missense_Mutation	SNP	74430807	74430807	4749	14	C	A	A	32	32	DLST	A	3	3
DLST	1743	broad.mit.edu	36	14	74438674	74438674	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74438674A>G	uc001xqv.1	+	c.1250A>G	c.(1249-1251)TAC>TGC	p.Y417C		NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	417					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1														0.464286	45.376515	45.407141	13	15	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00698)	Missense_Mutation	SNP	74438674	74438674	4749	14	A	G	G	14	14	DLST	G	4	4
RPS6KL1	83694	broad.mit.edu	36	14	74447726	74447726	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74447726G>T	uc001xqw.1	-	c.549C>A	c.(547-549)TTC>TTA	p.F183L	RPS6KL1_uc010asd.1_Non-coding_Transcript|RPS6KL1_uc001xqy.1_Missense_Mutation_p.F214L|RPS6KL1_uc001xqx.1_5'Flank	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	214	Protein kinase.				protein phosphorylation	ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)	1										524				0.322314	91.970845	95.369669	39	82	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00658)	Missense_Mutation	SNP	74447726	74447726	14139	14	G	T	T	41	41	RPS6KL1	T	3	3
MLH3	27030	broad.mit.edu	36	14	74583380	74583380	+	Nonsense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74583380A>T	uc001xrd.1	-	c.2732T>A	c.(2731-2733)TTG>TAG	p.L911*	MLH3_uc001xre.1_Nonsense_Mutation_p.L911*	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	911					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														0.297003	295.146673	308.661354	109	258	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00688)	Nonsense_Mutation	SNP	74583380	74583380	10008	14	A	T	T	5	5	MLH3	T	5	4
NEK9	91754	broad.mit.edu	36	14	74653732	74653732	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74653732C>T	uc001xrl.1	-	c.681G>A	c.(679-681)AAG>AAA	p.K227K	NEK9_uc001xrk.1_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	227	Protein kinase.				cell division|mitosis|protein phosphorylation	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3										359				0.349315	139.773969	142.702313	51	95	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00718)	Silent	SNP	74653732	74653732	10730	14	C	T	T	20	20	NEK9	T	2	2
VASH1	22846	broad.mit.edu	36	14	76312309	76312309	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:76312309C>T	uc001xst.2	+	c.852C>T	c.(850-852)CGC>CGT	p.R284R		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	284					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0														0.717949	82.893047	84.550058	28	11	CC		KEEP	---	---	---	---	capture	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	Silent	SNP	76312309	76312309	17690	14	C	T	T	26	26	VASH1	T	2	2
ANGEL1	23357	broad.mit.edu	36	14	76325469	76325469	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:76325469C>T	uc001xsv.1	-	c.1868G>A	c.(1867-1869)CGA>CAA	p.R623Q		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	623										ovary(2)|central_nervous_system(1)	3														0.282723	122.469264	130.574737	54	137	CC		KEEP	---	---	---	---	capture	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	Missense_Mutation	SNP	76325469	76325469	611	14	C	T	T	31	31	ANGEL1	T	1	1
POMT2	29954	broad.mit.edu	36	14	76821638	76821638	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:76821638G>A	uc001xti.1	-	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	POMT2_uc001xth.1_Missense_Mutation_p.R173C	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein O-mannosyltransferase	475	MIR 3.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1														0.328267	549.565623	566.777894	216	442	GG		KEEP	---	---	---	---	capture	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	Missense_Mutation	SNP	76821638	76821638	12675	14	G	A	A	37	37	POMT2	A	1	1
C14orf148	122945	broad.mit.edu	36	14	76942937	76942937	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:76942937G>A	uc001xtr.2	-	c.565C>T	c.(565-567)CGG>TGG	p.R189W	C14orf148_uc001xts.2_Missense_Mutation_p.R189W	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	189					oxidation-reduction process|proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0														0.652778	138.333561	139.815801	47	25	GG		KEEP	---	---	---	---	capture	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	Missense_Mutation	SNP	76942937	76942937	1799	14	G	A	A	38	38	C14orf148	A	1	1
VIPAR	63894	broad.mit.edu	36	14	76964549	76964549	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:76964549G>A	uc001xtt.1	-	c.1378C>T	c.(1378-1380)CGT>TGT	p.R460C	VIPAR_uc001xtu.1_Missense_Mutation_p.R460C|VIPAR_uc001xtv.1_Missense_Mutation_p.R460C	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	460					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1														0.236559	49.89943	55.802367	22	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76964549	76964549	17735	14	G	A	A	37	37	VIPAR	A	1	1
SPTLC2	9517	broad.mit.edu	36	14	77048394	77048394	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:77048394C>A	uc001xub.1	-	c.1675G>T	c.(1675-1677)GAA>TAA	p.E559*		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	559						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.336207	96.877668	99.636457	39	77	CC		KEEP	---	---	---	---	capture	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	Nonsense_Mutation	SNP	77048394	77048394	15638	14	C	A	A	32	32	SPTLC2	A	5	3
ADCK1	57143	broad.mit.edu	36	14	77467626	77467626	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:77467626C>T	uc001xui.1	+	c.1219C>T	c.(1219-1221)CGC>TGC	p.R407C	ADCK1_uc001xuj.1_Missense_Mutation_p.R339C|ADCK1_uc001xul.1_Missense_Mutation_p.R114C	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	414	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			ovary(1)	1										200				0.283186	77.74912	82.522781	32	81	CC		KEEP	---	---	---	---	capture	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	Missense_Mutation	SNP	77467626	77467626	289	14	C	T	T	31	31	ADCK1	T	1	1
NRXN3	9369	broad.mit.edu	36	14	78245668	78245668	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:78245668G>T	uc001xun.1	+	c.458G>T	c.(457-459)GGC>GTC	p.G153V	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G287V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	526	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)												0.275304	163.195941	174.425651	68	179	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	Missense_Mutation	SNP	78245668	78245668	11072	14	G	T	T	42	42	NRXN3	T	3	3
C14orf145	145508	broad.mit.edu	36	14	80329197	80329197	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:80329197C>T	uc001xux.1	-	c.1220G>A	c.(1219-1221)CGT>CAT	p.R407H	C14orf145_uc010asz.1_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CN145_HUMAN	hypothetical protein LOC145508	407	Potential.									central_nervous_system(1)	1										1				0.227586	71.301863	81.17672	33	112	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.0586)	Missense_Mutation	SNP	80329197	80329197	1797	14	C	T	T	19	19	C14orf145	T	1	1
C14orf145	145508	broad.mit.edu	36	14	80452556	80452556	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:80452556C>T	uc001xux.1	-	c.89G>A	c.(88-90)CGA>CAA	p.R30Q	C14orf145_uc001xva.1_Missense_Mutation_p.R30Q|C14orf145_uc001xuz.2_Missense_Mutation_p.R30Q|C14orf145_uc010ata.1_Missense_Mutation_p.R30Q	NM_152446	NP_689659	Q6ZU80	CN145_HUMAN	hypothetical protein LOC145508	30										central_nervous_system(1)	1										1				0.561905	351.359334	352.05892	118	92	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.0586)	Missense_Mutation	SNP	80452556	80452556	1797	14	C	T	T	31	31	C14orf145	T	1	1
TSHR	7253	broad.mit.edu	36	14	80491935	80491935	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:80491935G>A	uc001xvd.1	+	c.158G>A	c.(157-159)AGT>AAT	p.S53N	C14orf145_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.S53N|TSHR_uc001xvc.1_Missense_Mutation_p.S53N	NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	53	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)	298					Thyrotropin Alfa(DB00024)					868				0.275362	130.958907	140.38615	57	150	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.0402)	Missense_Mutation	SNP	80491935	80491935	17173	14	G	A	A	36	36	TSHR	A	2	2
TSHR	7253	broad.mit.edu	36	14	80679370	80679370	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:80679370C>T	uc001xvd.1	+	c.1215C>T	c.(1213-1215)TTC>TTT	p.F405F		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	405	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)	298					Thyrotropin Alfa(DB00024)					868				0.633858	478.905488	482.899296	161	93	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.0402)	Silent	SNP	80679370	80679370	17173	14	C	T	T	29	29	TSHR	T	2	2
GTF2A1	2957	broad.mit.edu	36	14	80728775	80728775	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:80728775C>T	uc001xvf.1	-	c.774G>A	c.(772-774)CCG>CCA	p.P258P	GTF2A1_uc010atb.1_Silent_p.P208P|GTF2A1_uc001xvg.1_Silent_p.P219P	NM_015859	NP_963889	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	258					general transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|general RNA polymerase II transcription factor activity|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1														0.292887	158.044719	167.232698	70	169	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.0287)	Silent	SNP	80728775	80728775	7132	14	C	T	T	27	27	GTF2A1	T	1	1
FLRT2	23768	broad.mit.edu	36	14	85159528	85159528	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:85159528C>T	uc001xvr.1	+	c.1917C>T	c.(1915-1917)TGC>TGT	p.C639C	FLRT2_uc010atd.1_Silent_p.C639C	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein	639	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)	3														0.326291	354.848877	366.2678	139	287	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.0319)	Silent	SNP	85159528	85159528	6181	14	C	T	T	26	26	FLRT2	T	2	2
GALC	2581	broad.mit.edu	36	14	87481749	87481749	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:87481749C>T	uc001xvt.1	-	c.1571G>A	c.(1570-1572)GGC>GAC	p.G524D		NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	524					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0														0.297468	118.349305	124.153208	47	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87481749	87481749	6465	14	C	T	T	26	26	GALC	T	2	2
GPR65	8477	broad.mit.edu	36	14	87547670	87547670	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:87547670T>C	uc001xvv.1	+	c.726T>C	c.(724-726)TTT>TTC	p.F242F	GPR65_uc010ate.1_Silent_p.F242F	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	242	Helical; Name=6; (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0														0.357798	130.702309	132.640334	39	70	TT		KEEP	---	---	---	---	capture			Silent	SNP	87547670	87547670	6981	14	T	C	C	62	62	GPR65	C	4	4
SPATA7	55812	broad.mit.edu	36	14	87974365	87974365	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:87974365A>G	uc001xwq.1	+	c.1646A>G	c.(1645-1647)AAG>AGG	p.K549R	SPATA7_uc001xwr.1_Missense_Mutation_p.K517R|SPATA7_uc001xws.1_Missense_Mutation_p.K485R|SPATA7_uc001xwt.1_Missense_Mutation_p.K443R|SPATA7_uc001xwu.2_Intron	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	549					response to stimulus|visual perception					ovary(1)	1														0.286822	114.022816	119.280725	37	92	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87974365	87974365	15524	14	A	G	G	3	3	SPATA7	G	4	4
ZC3H14	79882	broad.mit.edu	36	14	88147025	88147025	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:88147025G>A	uc001xww.1	+	c.2192G>A	c.(2191-2193)CGA>CAA	p.R731Q	ZC3H14_uc001xwx.1_Missense_Mutation_p.R574Q|ZC3H14_uc001xwy.1_Missense_Mutation_p.R566Q|ZC3H14_uc001xwz.1_Missense_Mutation_p.R575Q|ZC3H14_uc001xxa.1_Missense_Mutation_p.R276Q|ZC3H14_uc001xxb.1_Missense_Mutation_p.R301Q|ZC3H14_uc001xxc.1_Missense_Mutation_p.R275Q	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	731						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)	2														0.323944	59.697066	61.652189	23	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88147025	88147025	18154	14	G	A	A	37	37	ZC3H14	A	1	1
EML5	161436	broad.mit.edu	36	14	88157239	88157239	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:88157239T>C	uc001xxg.1	-	c.5173A>G	c.(5173-5175)ACA>GCA	p.T1725A	EML5_uc001xxd.1_5'Flank|EML5_uc001xxe.1_Missense_Mutation_p.T74A|EML5_uc001xxf.1_Missense_Mutation_p.T512A	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1717	WD 25.					cytoplasm|microtubule				ovary(3)	3														0.72973	185.310586	188.811978	54	20	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88157239	88157239	5292	14	T	C	C	58	58	EML5	C	4	4
EML5	161436	broad.mit.edu	36	14	88251226	88251226	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:88251226T>C	uc001xxg.1	-	c.1254A>G	c.(1252-1254)CCA>CCG	p.P418P	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	418	WD 8.					cytoplasm|microtubule				ovary(3)	3														0.176471	11.129626	14.483875	6	28	TT		KEEP	---	---	---	---	capture			Silent	SNP	88251226	88251226	5292	14	T	C	C	55	55	EML5	C	4	4
PSMC1	5700	broad.mit.edu	36	14	89799783	89799783	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:89799783C>A	uc001xyf.1	+	c.304C>A	c.(304-306)CTG>ATG	p.L102M	PSMC1_uc001xyg.1_Missense_Mutation_p.L29M|PSMC1_uc001xyh.1_Missense_Mutation_p.L29M	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)												0.403509	117.710481	118.642647	46	68	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.21)	Missense_Mutation	SNP	89799783	89799783	13138	14	C	A	A	32	32	PSMC1	A	3	3
C14orf102	55051	broad.mit.edu	36	14	89839164	89839164	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:89839164C>T	uc001xyi.1	-	c.1064G>A	c.(1063-1065)CGA>CAA	p.R355Q	C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.1_Missense_Mutation_p.R124Q	NM_017970	NP_950244	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	355	Potential.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)												0.488372	119.843387	119.853508	42	44	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.218)	Missense_Mutation	SNP	89839164	89839164	1783	14	C	T	T	31	31	C14orf102	T	1	1
C14orf159	80017	broad.mit.edu	36	14	90706133	90706133	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:90706133C>T	uc001xyw.2	+	c.291C>T	c.(289-291)TTC>TTT	p.F97F	C14orf159_uc010atv.1_Intron|C14orf159_uc001xyy.2_Silent_p.F97F|C14orf159_uc001xzb.2_Silent_p.F97F|C14orf159_uc001xyx.2_Silent_p.F97F|C14orf159_uc001xzc.2_Silent_p.F97F|C14orf159_uc001xza.2_Silent_p.F97F|C14orf159_uc001xyv.2_Silent_p.F97F|C14orf159_uc001xyz.2_Intron|C14orf159_uc001xze.2_Silent_p.F97F	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform b	97						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)												0.723164	389.765037	397.71615	128	49	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	Silent	SNP	90706133	90706133	1803	14	C	T	T	31	31	C14orf159	T	1	1
C14orf159	80017	broad.mit.edu	36	14	90717352	90717352	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:90717352C>T	uc001xyw.2	+	c.800C>T	c.(799-801)CCA>CTA	p.P267L	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.P267L|C14orf159_uc001xzb.2_Missense_Mutation_p.P262L|C14orf159_uc001xyx.2_Missense_Mutation_p.P250L|C14orf159_uc001xzc.2_Missense_Mutation_p.P262L|C14orf159_uc001xza.2_Missense_Mutation_p.P267L|C14orf159_uc001xyv.2_Missense_Mutation_p.P267L|C14orf159_uc001xyz.2_Missense_Mutation_p.P138L|C14orf159_uc001xze.2_Missense_Mutation_p.P262L	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform b	262						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)												0.75	110.697599	113.415168	36	12	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	Missense_Mutation	SNP	90717352	90717352	1803	14	C	T	T	21	21	C14orf159	T	2	2
CATSPERB	79820	broad.mit.edu	36	14	91157717	91157717	+	Missense_Mutation	SNP	G	A	A	rs45583931	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:91157717G>A	uc001xzs.1	-	c.2248C>T	c.(2248-2250)CGG>TGG	p.R750W	CATSPERB_uc010aub.1_Missense_Mutation_p.R272W	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	750					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|ovary(1)	3		all_cancers(154;0.0663)|all_epithelial(191;0.236)								637				0.767857	266.897179	274.25871	86	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91157717	91157717	2810	14	G	A	A	40	40	CATSPERB	A	1	1
TRIP11	9321	broad.mit.edu	36	14	91539662	91539662	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:91539662T>C	uc001xzy.2	-	c.4411A>G	c.(4411-4413)ACA>GCA	p.T1471A	TRIP11_uc010auf.1_Missense_Mutation_p.T1207A	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1471	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|kidney(2)|central_nervous_system(1)|breast(1)|skin(1)	11						Ovarian(84;609 1888 9852 42686)				1481				0.334375	347.551672	355.307672	107	213	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.223)	Missense_Mutation	SNP	91539662	91539662	17105	14	T	C	C	60	60	TRIP11	C	4	4
TRIP11	9321	broad.mit.edu	36	14	91542188	91542188	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:91542188G>A	uc001xzy.2	-	c.1885C>T	c.(1885-1887)CAG>TAG	p.Q629*	TRIP11_uc010auf.1_Nonsense_Mutation_p.Q365*	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	629	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|kidney(2)|central_nervous_system(1)|breast(1)|skin(1)	11						Ovarian(84;609 1888 9852 42686)				1481				0.311688	59.165557	61.60053	24	53	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.223)	Nonsense_Mutation	SNP	91542188	91542188	17105	14	G	A	A	46	46	TRIP11	A	5	2
TRIP11	9321	broad.mit.edu	36	14	91543918	91543918	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:91543918T>C	uc001xzy.2	-	c.1346A>G	c.(1345-1347)AAC>AGC	p.N449S	TRIP11_uc010auf.1_Missense_Mutation_p.N185S	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	449	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|kidney(2)|central_nervous_system(1)|breast(1)|skin(1)	11						Ovarian(84;609 1888 9852 42686)				1481				0.34375	70.227306	71.608969	22	42	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.223)	Missense_Mutation	SNP	91543918	91543918	17105	14	T	C	C	60	60	TRIP11	C	4	4
SLC24A4	123041	broad.mit.edu	36	14	91990137	91990137	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:91990137C>T	uc001yak.1	+	c.970C>T	c.(970-972)CGG>TGG	p.R324W	SLC24A4_uc001yai.1_Missense_Mutation_p.R277W|SLC24A4_uc001yaj.1_Missense_Mutation_p.R305W|SLC24A4_uc010auj.1_Missense_Mutation_p.R213W|SLC24A4_uc001yan.1_Missense_Mutation_p.R35W	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	324	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)				NSCLC(10;315 435 10383 28450 38798)								0.375	31.892866	32.331396	12	20	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	91990137	91990137	14965	14	C	T	T	19	19	SLC24A4	T	1	1
RIN3	79890	broad.mit.edu	36	14	92188715	92188715	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:92188715G>A	uc001yap.1	+	c.1568G>A	c.(1567-1569)AGC>AAC	p.S523N	RIN3_uc010auk.1_Missense_Mutation_p.S185N|RIN3_uc001yaq.1_Missense_Mutation_p.S448N|RIN3_uc001yar.1_Missense_Mutation_p.S185N|RIN3_uc001yas.1_Missense_Mutation_p.S185N	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	523					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding				0		all_cancers(154;0.0701)												0.744186	193.02005	197.662998	64	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92188715	92188715	13850	14	G	A	A	34	34	RIN3	A	2	2
LGMN	5641	broad.mit.edu	36	14	92248970	92248970	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:92248970C>A	uc001yav.1	-	c.544_splice	c.e9-1	p.M182_splice	LGMN_uc001yaw.1_Splice_Site_SNP_p.M182_splice|LGMN_uc001yax.1_Splice_Site_SNP_p.M182_splice|LGMN_uc010aul.1_Splice_Site_SNP_p.M63_splice|LGMN_uc001yay.1_Splice_Site_SNP_p.M182_splice|LGMN_uc001yat.1_Splice_Site_SNP_p.M182_splice|LGMN_uc001yau.1_Splice_Site_SNP_p.M182_splice	NM_001008530	NP_005597			legumain preproprotein						hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity				0		all_cancers(154;0.0706)												0.26	26.745474	29.358938	13	37	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.224)	Splice_Site_SNP	SNP	92248970	92248970	9081	14	C	A	A	32	32	LGMN	A	5	3
GOLGA5	9950	broad.mit.edu	36	14	92333554	92333554	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:92333554C>A	uc001yaz.1	+	c.19C>A	c.(19-21)CTT>ATT	p.L7I		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	7	Cytoplasmic (Potential).				Golgi organization|protein phosphorylation	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)								351				0.282828	63.247093	67.44926	28	71	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.222)	Missense_Mutation	SNP	92333554	92333554	6825	14	C	A	A	32	32	GOLGA5	A	3	3
GOLGA5	9950	broad.mit.edu	36	14	92333991	92333991	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:92333991C>T	uc001yaz.1	+	c.456C>T	c.(454-456)AGC>AGT	p.S152S		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	152	Cytoplasmic (Potential).				Golgi organization|protein phosphorylation	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)								351				0.410959	163.75823	164.772732	60	86	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.222)	Silent	SNP	92333991	92333991	6825	14	C	T	T	28	28	GOLGA5	T	2	2
UBR7	55148	broad.mit.edu	36	14	92756484	92756484	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:92756484G>T	uc001ybm.2	+	c.1097G>T	c.(1096-1098)AGA>ATA	p.R366I	UBR7_uc001ybn.2_Missense_Mutation_p.R290I|UBR7_uc010auq.1_Missense_Mutation_p.R215I	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin	366							ubiquitin-protein ligase activity|zinc ion binding				0														0.302469	115.911021	121.556326	49	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92756484	92756484	17464	14	G	T	T	33	33	UBR7	T	3	3
BTBD7	55727	broad.mit.edu	36	14	92778885	92778885	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:92778885T>C	uc001ybo.1	-	c.2886A>G	c.(2884-2886)AGA>AGG	p.R962R	BTBD7_uc010aur.1_Silent_p.R487R|BTBD7_uc001ybp.1_Silent_p.R611R	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	962										pancreas(1)	1		all_cancers(154;0.08)												0.796748	350.806926	360.865212	98	25	TT		KEEP	---	---	---	---	capture		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	Silent	SNP	92778885	92778885	1580	14	T	C	C	58	58	BTBD7	C	4	4
KIAA1409	57578	broad.mit.edu	36	14	93116289	93116289	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93116289C>T	uc001ybv.1	+	c.1944C>T	c.(1942-1944)CAC>CAT	p.H648H	KIAA1409_uc001ybs.1_Silent_p.H648H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	825						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)								1186				0.384615	143.077889	144.751105	55	88	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.188)	Silent	SNP	93116289	93116289	8539	14	C	T	T	17	17	KIAA1409	T	2	2
KIAA1409	57578	broad.mit.edu	36	14	93158934	93158934	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93158934G>A	uc001ybv.1	+	c.5137G>A	c.(5137-5139)GAT>AAT	p.D1713N	KIAA1409_uc001ybs.1_Missense_Mutation_p.D1691N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1868						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)								1186				0.318182	53.229285	55.181433	21	45	GG		KEEP	---	---	---	---	capture		Epithelial(152;0.188)	Missense_Mutation	SNP	93158934	93158934	8539	14	G	A	A	33	33	KIAA1409	A	2	2
OTUB2	78990	broad.mit.edu	36	14	93575109	93575109	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93575109G>A	uc001yci.1	+	c.147G>A	c.(145-147)GGG>GGA	p.G49G	OTUB2_uc001ych.2_Missense_Mutation_p.G2E	NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	49	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)												0.784861	609.965468	628.749406	197	54	GG		KEEP	---	---	---	---	capture		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)	Silent	SNP	93575109	93575109	11724	14	G	A	A	41	41	OTUB2	A	2	2
OTUB2	78990	broad.mit.edu	36	14	93580766	93580766	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93580766G>A	uc001yci.1	+	c.385G>A	c.(385-387)GAC>AAC	p.D129N		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	129	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)												0.115942	7.647046	17.67146	8	61	GG		KEEP	---	---	---	---	capture		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)	Missense_Mutation	SNP	93580766	93580766	11724	14	G	A	A	41	41	OTUB2	A	2	2
OTUB2	78990	broad.mit.edu	36	14	93580850	93580850	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93580850G>A	uc001yci.1	+	c.469G>A	c.(469-471)GAG>AAG	p.E157K		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	157	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)												0.363636	31.085317	31.62739	12	21	GG		KEEP	---	---	---	---	capture		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)	Missense_Mutation	SNP	93580850	93580850	11724	14	G	A	A	41	41	OTUB2	A	2	2
DDX24	57062	broad.mit.edu	36	14	93598540	93598540	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93598540T>C	uc001ycj.1	-	c.899A>G	c.(898-900)GAC>GGC	p.D300G		NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	300	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)												0.383562	184.374557	186.106903	56	90	TT		KEEP	---	---	---	---	capture		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	Missense_Mutation	SNP	93598540	93598540	4522	14	T	C	C	58	58	DDX24	C	4	4
PPP4R4	57718	broad.mit.edu	36	14	93712153	93712153	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93712153G>T	uc001ycs.1	+	c.127G>T	c.(127-129)GAA>TAA	p.E43*	PPP4R4_uc001ycr.1_Nonsense_Mutation_p.E43*	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	43						cytoplasm|protein serine/threonine phosphatase complex	protein binding				0														0.278571	90.553805	96.736593	39	101	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93712153	93712153	12841	14	G	T	T	33	33	PPP4R4	T	5	3
PPP4R4	57718	broad.mit.edu	36	14	93811570	93811570	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93811570G>A	uc001ycs.1	+	c.2556G>A	c.(2554-2556)AAG>AAA	p.K852K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	852						cytoplasm|protein serine/threonine phosphatase complex	protein binding				0														0.371041	226.978848	230.213366	82	139	GG		KEEP	---	---	---	---	capture			Silent	SNP	93811570	93811570	12841	14	G	A	A	33	33	PPP4R4	A	2	2
SERPINA6	866	broad.mit.edu	36	14	93850718	93850718	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93850718G>T	uc001ycv.1	-	c.21C>A	c.(19-21)ACC>ACA	p.T7T	SERPINA6_uc010auv.1_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	7					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(154;0.0482)|all_epithelial(191;0.166)			Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)									0.368421	162.869625	165.475542	63	108	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.211)	Silent	SNP	93850718	93850718	14581	14	G	T	T	35	35	SERPINA6	T	3	3
SERPINA11	256394	broad.mit.edu	36	14	93984347	93984347	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93984347G>T	uc001ydd.1	-	c.518C>A	c.(517-519)TCT>TAT	p.S173Y		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	173					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1														0.363636	215.312204	219.101142	84	147	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.211)	Missense_Mutation	SNP	93984347	93984347	14576	14	G	T	T	33	33	SERPINA11	T	3	3
SERPINA11	256394	broad.mit.edu	36	14	93984687	93984687	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93984687G>A	uc001ydd.1	-	c.178C>T	c.(178-180)CGT>TGT	p.R60C		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	60					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1														0.354839	252.899558	258.099199	99	180	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.211)	Missense_Mutation	SNP	93984687	93984687	14576	14	G	A	A	38	38	SERPINA11	A	1	1
SERPINA11	256394	broad.mit.edu	36	14	93984760	93984760	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93984760G>A	uc001ydd.1	-	c.105C>T	c.(103-105)CCC>CCT	p.P35P		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	35					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1														0.731844	425.166706	433.912052	131	48	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.211)	Silent	SNP	93984760	93984760	14576	14	G	A	A	43	43	SERPINA11	A	2	2
SERPINA9	327657	broad.mit.edu	36	14	94003411	94003411	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:94003411G>A	uc001ydf.1	-	c.744C>T	c.(742-744)GGC>GGT	p.G248G	SERPINA9_uc001yde.1_Silent_p.G148G|SERPINA9_uc010avc.1_Silent_p.G99G|SERPINA9_uc001ydg.1_Silent_p.G212G|SERPINA9_uc001ydh.1_Silent_p.G248G|SERPINA9_uc001ydi.1_Silent_p.G212G	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	230					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)												0.654762	160.433679	162.208509	55	29	GG		KEEP	---	---	---	---	capture		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	Silent	SNP	94003411	94003411	14583	14	G	A	A	38	38	SERPINA9	A	1	1
SERPINA12	145264	broad.mit.edu	36	14	94032487	94032487	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:94032487C>A	uc001ydj.1	-	c.881G>T	c.(880-882)AGA>ATA	p.R294I		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	294					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4										148				0.744565	404.41958	414.387363	137	47	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.235)	Missense_Mutation	SNP	94032487	94032487	14577	14	C	A	A	32	32	SERPINA12	A	3	3
SERPINA3	12	broad.mit.edu	36	14	94155449	94155449	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:94155449G>T	uc001ydo.2	+	c.883G>T	c.(883-885)GGC>TGC	p.G295C	SERPINA3_uc001ydr.1_Intron|SERPINA3_uc001ydq.1_Missense_Mutation_p.G270C|SERPINA3_uc001ydp.1_Missense_Mutation_p.G270C|SERPINA3_uc001yds.1_Missense_Mutation_p.G270C|SERPINA3_uc010avg.1_Missense_Mutation_p.G270C	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	270					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)	5		all_cancers(154;0.0525)|all_epithelial(191;0.179)												0.811765	207.507065	215.233247	69	16	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	Missense_Mutation	SNP	94155449	94155449	14578	14	G	T	T	35	35	SERPINA3	T	3	3
DICER1	23405	broad.mit.edu	36	14	94632449	94632449	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:94632449C>A	uc001ydw.2	-	c.4561G>T	c.(4561-4563)GAT>TAT	p.D1521Y	DICER1_uc010avh.1_Missense_Mutation_p.D419Y|DICER1_uc001ydv.2_Missense_Mutation_p.D1511Y|DICER1_uc001ydx.2_Missense_Mutation_p.D1521Y|DICER1_uc001ydy.1_Missense_Mutation_p.D373Y	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	dicer1	1521					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-microRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			ovary(1)|pancreas(1)|lung(1)|skin(1)	4		all_cancers(154;0.0621)|all_epithelial(191;0.223)								741				0.742187	282.359126	289.152754	95	33	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	Missense_Mutation	SNP	94632449	94632449	4700	14	C	A	A	32	32	DICER1	A	3	3
CLMN	79789	broad.mit.edu	36	14	94739734	94739734	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:94739734C>T	uc001yeg.1	-	c.1705G>A	c.(1705-1707)GAC>AAC	p.D569N		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	569						integral to membrane	actin binding				0														0.375	103.019061	104.43752	39	65	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.193)	Missense_Mutation	SNP	94739734	94739734	3680	14	C	T	T	31	31	CLMN	T	1	1
BDKRB2	624	broad.mit.edu	36	14	95773243	95773243	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:95773243G>A	uc010avm.1	+	c.46G>A	c.(46-48)GAC>AAC	p.D16N	BDKRB2_uc010avl.1_Silent_p.R75R|BDKRB2_uc001yfg.2_Missense_Mutation_p.D16N	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	16	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|inflammatory response|regulation of vascular permeability|regulation of vasoconstriction|smooth muscle contraction|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|kidney(1)	4		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)												0.395062	167.73135	169.300982	64	98	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.226)	Missense_Mutation	SNP	95773243	95773243	1415	14	G	A	A	41	41	BDKRB2	A	2	2
BDKRB2	624	broad.mit.edu	36	14	95777367	95777367	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:95777367G>A	uc010avm.1	+	c.949G>A	c.(949-951)GCC>ACC	p.A317T	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc001yfg.2_Missense_Mutation_p.A317T	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	317	Helical; Name=7; (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|inflammatory response|regulation of vascular permeability|regulation of vasoconstriction|smooth muscle contraction|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|kidney(1)	4		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)												0.84	123.963337	129.461121	42	8	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.226)	Missense_Mutation	SNP	95777367	95777367	1415	14	G	A	A	38	38	BDKRB2	A	1	1
ATG2B	55102	broad.mit.edu	36	14	95828187	95828187	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:95828187C>T	uc001yfi.1	-	c.5428G>A	c.(5428-5430)GAA>AAA	p.E1810K		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1810										ovary(1)|kidney(1)	2		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)												0.765957	369.468225	378.590738	108	33	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	Missense_Mutation	SNP	95828187	95828187	1113	14	C	T	T	32	32	ATG2B	T	2	2
BCL11B	64919	broad.mit.edu	36	14	98793784	98793784	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:98793784C>T	uc001yga.1	-	c.204G>A	c.(202-204)GGG>GGA	p.G68G	BCL11B_uc001ygb.1_Silent_p.G68G	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	68						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)	9		Melanoma(154;0.0866)|all_epithelial(191;0.241)								98				0.373737	105.837515	107.227758	37	62	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.103)	Silent	SNP	98793784	98793784	1385	14	C	T	T	22	22	BCL11B	T	2	2
SETD3	84193	broad.mit.edu	36	14	98935114	98935114	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:98935114C>T	uc001ygc.1	-	c.1440G>A	c.(1438-1440)AAG>AAA	p.K480K		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	480					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)												0.391509	242.568431	244.756682	83	129	CC		KEEP	---	---	---	---	capture			Silent	SNP	98935114	98935114	14621	14	C	T	T	32	32	SETD3	T	2	2
EML1	2009	broad.mit.edu	36	14	99472402	99472402	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:99472402C>T	uc001ygr.1	+	c.2130C>T	c.(2128-2130)TCC>TCT	p.S710S	EML1_uc001ygs.1_Silent_p.S691S	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	691	WD 9.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|ovary(1)|pancreas(1)	4		Melanoma(154;0.0879)|all_epithelial(191;0.216)												0.698413	140.620355	142.834791	44	19	CC		KEEP	---	---	---	---	capture			Silent	SNP	99472402	99472402	5288	14	C	T	T	23	23	EML1	T	1	1
YY1	7528	broad.mit.edu	36	14	99813677	99813677	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:99813677A>C	uc001ygy.1	+	c.1232A>C	c.(1231-1233)AAA>ACA	p.K411T		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	411					negative regulation of gene-specific transcription from RNA polymerase II promoter	nuclear matrix|plasma membrane	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding				0		Melanoma(154;0.152)												0.407407	72.042769	72.446483	22	32	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99813677	99813677	18090	14	A	C	C	1	1	YY1	C	4	4
WDR25	79446	broad.mit.edu	36	14	99917744	99917744	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:99917744G>T	uc010avx.1	+	c.730G>T	c.(730-732)GGC>TGC	p.G244C	WDR25_uc001yhm.1_Missense_Mutation_p.G236C|WDR25_uc001yhn.1_Missense_Mutation_p.G244C|WDR25_uc010avy.1_Non-coding_Transcript|WDR25_uc001yho.1_5'Flank	NM_024515	NP_078791	Q64LD2	WDR25_HUMAN	WD repeat domain 25	244	WD 1.										0		Melanoma(154;0.212)												0.76087	209.477759	215.186376	70	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99917744	99917744	17855	14	G	T	T	35	35	WDR25	T	3	3
TARSL2	123283	broad.mit.edu	36	15	100015577	100015577	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:100015577G>T	uc002bxm.1	-	c.2079C>A	c.(2077-2079)TTC>TTA	p.F693L	TARSL2_uc002bxl.1_Intron	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	693					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)													0.378378	34.435044	34.917267	14	23	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Missense_Mutation	SNP	100015577	100015577	16083	15	G	T	T	33	33	TARSL2	T	3	3
TARSL2	123283	broad.mit.edu	36	15	100043753	100043753	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:100043753G>T	uc002bxm.1	-	c.1356C>A	c.(1354-1356)CTC>CTA	p.L452L	TARSL2_uc002bxl.1_5'UTR	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	452					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)													0.437086	170.885247	171.412466	66	85	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Silent	SNP	100043753	100043753	16083	15	G	T	T	33	33	TARSL2	T	3	3
POTEB	339010	broad.mit.edu	36	15	19336150	19336150	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:19336150C>T	uc001ytu.1	-	c.151G>A	c.(151-153)GAC>AAC	p.D51N	POTEB_uc010axv.1_Non-coding_Transcript	NM_207355	NP_997238	Q6S5H4	POTEB_HUMAN	protein expressed in prostate, ovary, testis,	51											0														0.23913	166.928748	186.936272	77	245	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19336150	19336150	12691	15	C	T	T	31	31	POTEB	T	1	1
OR4N4	283694	broad.mit.edu	36	15	19884694	19884694	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:19884694T>G	uc001yuc.1	+	c.858T>G	c.(856-858)ATT>ATG	p.I286M	LOC727924_uc001yub.1_Non-coding_Transcript|OR4N4_uc001yue.2_Missense_Mutation_p.I286M	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4		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)												0.206767	136.226475	157.387413	55	211	TT		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	19884694	19884694	11488	15	T	G	G	64	64	OR4N4	G	4	4
TUBGCP5	114791	broad.mit.edu	36	15	20414427	20414427	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:20414427A>G	uc001yuq.2	+	c.2007A>G	c.(2005-2007)GTA>GTG	p.V669V	TUBGCP5_uc001yur.2_Silent_p.V669V|TUBGCP5_uc010axz.1_Silent_p.V256V	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	669					G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding				0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)												0.53125	867.081442	867.492567	255	225	AA		KEEP	---	---	---	---	capture		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	Silent	SNP	20414427	20414427	17324	15	A	G	G	16	16	TUBGCP5	G	4	4
MKRN3	7681	broad.mit.edu	36	15	21362728	21362728	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:21362728G>A	uc001ywh.2	+	c.706G>A	c.(706-708)GCT>ACT	p.A236T	MKRN3_uc010ayi.1_Missense_Mutation_p.A236T|MKRN3_uc001ywi.2_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	236						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)								79				0.289474	53.030733	56.043587	22	54	GG		KEEP	---	---	---	---	capture		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	Missense_Mutation	SNP	21362728	21362728	9998	15	G	A	A	42	42	MKRN3	A	2	2
MKRN3	7681	broad.mit.edu	36	15	21363005	21363005	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:21363005G>A	uc001ywh.2	+	c.983G>A	c.(982-984)CGC>CAC	p.R328H	MKRN3_uc010ayi.1_Missense_Mutation_p.R328H|MKRN3_uc001ywi.2_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	328	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)								79				0.261538	76.298051	82.984841	34	96	GG		KEEP	---	---	---	---	capture		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	Missense_Mutation	SNP	21363005	21363005	9998	15	G	A	A	38	38	MKRN3	A	1	1
C15orf2	23742	broad.mit.edu	36	15	22472305	22472305	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:22472305C>T	uc001ywo.1	+	c.198C>T	c.(196-198)GTC>GTT	p.V66V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	66					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		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)								443				0.361702	45.362961	46.153663	17	30	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	22472305	22472305	1834	15	C	T	T	31	31	C15orf2	T	1	1
C15orf2	23742	broad.mit.edu	36	15	22473882	22473882	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:22473882C>T	uc001ywo.1	+	c.1775C>T	c.(1774-1776)TCC>TTC	p.S592F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	592					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		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)							p.S592*(NCIH2110-Tumor)	443				0.426087	138.949974	139.499226	49	66	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	22473882	22473882	1834	15	C	T	T	30	30	C15orf2	T	2	2
C15orf2	23742	broad.mit.edu	36	15	22474720	22474720	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:22474720C>A	uc001ywo.1	+	c.2613C>A	c.(2611-2613)GTC>GTA	p.V871V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	871					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		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)								443				0.445312	149.240929	149.576541	57	71	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	22474720	22474720	1834	15	C	A	A	32	32	C15orf2	A	3	3
UBE3A	7337	broad.mit.edu	36	15	23166925	23166925	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:23166925G>A	uc001zaq.1	-	c.1498C>T	c.(1498-1500)CGC>TGC	p.R500C	UBE3A_uc001zar.1_Missense_Mutation_p.R477C|UBE3A_uc001zas.1_Missense_Mutation_p.R497C|UBE3A_uc001zat.1_Missense_Mutation_p.R477C	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	500	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity				0		all_cancers(20;3.47e-21)|Breast(32;0.00123)												0.436975	148.080538	148.492737	52	67	GG		KEEP	---	---	---	---	capture		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	Missense_Mutation	SNP	23166925	23166925	17437	15	G	A	A	37	37	UBE3A	A	1	1
UBE3A	7337	broad.mit.edu	36	15	23167177	23167177	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:23167177C>A	uc001zaq.1	-	c.1246G>T	c.(1246-1248)GAA>TAA	p.E416*	UBE3A_uc001zar.1_Nonsense_Mutation_p.E393*|UBE3A_uc001zas.1_Nonsense_Mutation_p.E413*|UBE3A_uc001zat.1_Nonsense_Mutation_p.E393*	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	416	E6-binding.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity				0		all_cancers(20;3.47e-21)|Breast(32;0.00123)												0.484848	86.787628	86.801142	32	34	CC		KEEP	---	---	---	---	capture		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	Nonsense_Mutation	SNP	23167177	23167177	17437	15	C	A	A	32	32	UBE3A	A	5	3
UBE3A	7337	broad.mit.edu	36	15	23167348	23167348	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:23167348G>A	uc001zaq.1	-	c.1075C>T	c.(1075-1077)CGA>TGA	p.R359*	UBE3A_uc001zar.1_Nonsense_Mutation_p.R336*|UBE3A_uc001zas.1_Nonsense_Mutation_p.R356*|UBE3A_uc001zat.1_Nonsense_Mutation_p.R336*	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	359				R -> RNLVNEFNSR (in Ref. 7; AA sequence).	brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity				0		all_cancers(20;3.47e-21)|Breast(32;0.00123)												0.4125	183.016548	184.086923	66	94	GG		KEEP	---	---	---	---	capture		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	Nonsense_Mutation	SNP	23167348	23167348	17437	15	G	A	A	37	37	UBE3A	A	5	1
ATP10A	57194	broad.mit.edu	36	15	23477140	23477140	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:23477140C>T	uc010ayu.1	-	c.3588G>A	c.(3586-3588)TCG>TCA	p.S1196S		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1196	Extracellular (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)								877				0.412214	148.633231	149.512214	54	77	CC		KEEP	---	---	---	---	capture		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	Silent	SNP	23477140	23477140	1135	15	C	T	T	31	31	ATP10A	T	1	1
ATP10A	57194	broad.mit.edu	36	15	23523457	23523457	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:23523457G>A	uc010ayu.1	-	c.790C>T	c.(790-792)CTG>TTG	p.L264L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	264	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)								877				0.345133	103.376079	105.77606	39	74	GG		KEEP	---	---	---	---	capture		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	Silent	SNP	23523457	23523457	1135	15	G	A	A	34	34	ATP10A	A	2	2
ATP10A	57194	broad.mit.edu	36	15	23658963	23658963	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:23658963C>A	uc010ayu.1	-	c.374G>T	c.(373-375)AGG>ATG	p.R125M	ATP10A_uc001zax.2_Non-coding_Transcript	NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	125	Helical; (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)								877				0.35	17.21705	17.614911	7	13	CC		KEEP	---	---	---	---	capture		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	Missense_Mutation	SNP	23658963	23658963	1135	15	C	A	A	24	24	ATP10A	A	3	3
GABRB3	2562	broad.mit.edu	36	15	24417724	24417724	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:24417724G>A	uc001zbb.1	-	c.459C>T	c.(457-459)CTC>CTT	p.L153L	GABRB3_uc001zaz.1_Silent_p.L97L|GABRB3_uc001zba.1_Silent_p.L97L|GABRB3_uc001zbc.2_Non-coding_Transcript	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	97	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			ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)			Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.494382	126.289951	126.292493	44	45	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	24417724	24417724	6419	15	G	A	A	37	37	GABRB3	A	1	1
GABRB3	2562	broad.mit.edu	36	15	24767143	24767143	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:24767143G>T	uc001zbb.1	-	c.187C>A	c.(187-189)CTC>ATC	p.L63I	GABRA5_uc001zbd.1_Intron	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	Error:Variant_position_missing_in_P28472_after_alignment					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(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)			Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.410448	147.385144	148.327376	55	79	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	24767143	24767143	6419	15	G	T	T	35	35	GABRB3	T	3	3
GABRA5	2558	broad.mit.edu	36	15	24771220	24771220	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:24771220C>T	uc001zbd.1	+	c.990C>T	c.(988-990)TTC>TTT	p.F330F		NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	330	Helical; (Potential).				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			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)			Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.4375	20.122116	20.176688	7	9	CC		KEEP	---	---	---	---	capture		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Silent	SNP	24771220	24771220	6415	15	C	T	T	31	31	GABRA5	T	1	1
OCA2	4948	broad.mit.edu	36	15	25937222	25937222	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:25937222C>T	uc001zbh.2	-	c.723G>A	c.(721-723)CCG>CCA	p.P241P	OCA2_uc010ayv.1_Silent_p.P241P	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	241	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)												0.833333	42.415462	44.305205	15	3	CC		KEEP	---	---	---	---	capture		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	Silent	SNP	25937222	25937222	11220	15	C	T	T	31	31	OCA2	T	1	1
OCA2	4948	broad.mit.edu	36	15	25950826	25950826	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:25950826C>A	uc001zbh.2	-	c.306G>T	c.(304-306)AGG>AGT	p.R102S	OCA2_uc010ayv.1_Missense_Mutation_p.R102S	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	102	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)												0.396226	164.246804	165.757364	63	96	CC		KEEP	---	---	---	---	capture		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	Missense_Mutation	SNP	25950826	25950826	11220	15	C	A	A	30	30	OCA2	A	3	3
OCA2	4948	broad.mit.edu	36	15	26000472	26000472	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26000472C>T	uc001zbh.2	-	c.144G>A	c.(142-144)TCG>TCA	p.S48S	OCA2_uc010ayv.1_Silent_p.S48S	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	48	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)												0.394737	37.9207	38.287481	15	23	CC		KEEP	---	---	---	---	capture		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	Silent	SNP	26000472	26000472	11220	15	C	T	T	27	27	OCA2	T	1	1
HERC2	8924	broad.mit.edu	36	15	26048942	26048942	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26048942G>A	uc001zbj.1	-	c.12764C>T	c.(12763-12765)GCC>GTC	p.A4255V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4255	WD 6.|RCC1 18.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.469767	291.725698	291.898772	101	114	GG		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26048942	26048942	7341	15	G	A	A	42	42	HERC2	A	2	2
HERC2	8924	broad.mit.edu	36	15	26049280	26049280	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26049280G>T	uc001zbj.1	-	c.12626C>A	c.(12625-12627)TCT>TAT	p.S4209Y		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4209	RCC1 17.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.306931	222.431482	232.520041	93	210	GG		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26049280	26049280	7341	15	G	T	T	33	33	HERC2	T	3	3
HERC2	8924	broad.mit.edu	36	15	26060572	26060572	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26060572G>A	uc001zbj.1	-	c.11716C>T	c.(11716-11718)CGT>TGT	p.R3906C		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3906					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)							p.R3906C(JHUEM7-Tumor)|p.R3906C(NCIH1568-Tumor)	1580				0.390756	254.207759	256.699686	93	145	GG		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26060572	26060572	7341	15	G	A	A	37	37	HERC2	A	1	1
HERC2	8924	broad.mit.edu	36	15	26071538	26071538	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26071538C>T	uc001zbj.1	-	c.10780G>A	c.(10780-10782)GAG>AAG	p.E3594K		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3594					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.714286	15.377203	15.66555	5	2	CC		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26071538	26071538	7341	15	C	T	T	31	31	HERC2	T	1	1
HERC2	8924	broad.mit.edu	36	15	26097905	26097905	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26097905A>G	uc001zbj.1	-	c.8997T>C	c.(8995-8997)GGT>GGC	p.G2999G		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2999	RCC1 6.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.28169	98.246053	104.324596	40	102	AA		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Silent	SNP	26097905	26097905	7341	15	A	G	G	6	6	HERC2	G	4	4
HERC2	8924	broad.mit.edu	36	15	26147977	26147977	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26147977C>T	uc001zbj.1	-	c.5231G>A	c.(5230-5232)CGA>CAA	p.R1744Q		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1744					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.379747	324.613356	328.625124	120	196	CC		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26147977	26147977	7341	15	C	T	T	31	31	HERC2	T	1	1
HERC2	8924	broad.mit.edu	36	15	26155797	26155797	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26155797C>A	uc001zbj.1	-	c.3910G>T	c.(3910-3912)GAC>TAC	p.D1304Y	HERC2_uc010ayw.1_Missense_Mutation_p.D119Y	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1304					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.318182	66.158003	68.749909	28	60	CC		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26155797	26155797	7341	15	C	A	A	32	32	HERC2	A	3	3
HERC2	8924	broad.mit.edu	36	15	26175856	26175856	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26175856C>T	uc001zbj.1	-	c.2463G>A	c.(2461-2463)CCG>CCA	p.P821P	HERC2_uc010ayw.1_Intron|HERC2_uc001zbl.1_Silent_p.P516P	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	821					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.270833	56.734824	61.267982	26	70	CC		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Silent	SNP	26175856	26175856	7341	15	C	T	T	27	27	HERC2	T	1	1
HERC2	8924	broad.mit.edu	36	15	26184410	26184410	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26184410C>T	uc001zbj.1	-	c.1819G>A	c.(1819-1821)GAT>AAT	p.D607N	HERC2_uc010ayw.1_Intron|HERC2_uc001zbl.1_Missense_Mutation_p.D302N	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	607	RCC1 2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.370787	88.146825	89.454296	33	56	CC		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26184410	26184410	7341	15	C	T	T	31	31	HERC2	T	1	1
HERC2	8924	broad.mit.edu	36	15	26188099	26188099	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26188099C>T	uc001zbj.1	-	c.1336G>A	c.(1336-1338)GAA>AAA	p.E446K	HERC2_uc010ayw.1_Intron|HERC2_uc001zbl.1_Missense_Mutation_p.E141K	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	446					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.482143	75.139384	75.15827	27	29	CC		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26188099	26188099	7341	15	C	T	T	31	31	HERC2	T	1	1
HERC2	8924	broad.mit.edu	36	15	26218179	26218179	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26218179C>A	uc001zbj.1	-	c.151G>T	c.(151-153)GAA>TAA	p.E51*	HERC2_uc010ayw.1_Intron|HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	51					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.4	88.321774	89.068146	34	51	CC		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Nonsense_Mutation	SNP	26218179	26218179	7341	15	C	A	A	32	32	HERC2	A	5	3
APBA2	321	broad.mit.edu	36	15	27133802	27133802	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:27133802G>A	uc001zck.1	+	c.423G>A	c.(421-423)TGG>TGA	p.W141*	APBA2_uc010azj.1_Nonsense_Mutation_p.W141*|APBA2_uc001zcl.1_Nonsense_Mutation_p.W141*	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	141					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)												0.405063	87.680335	88.303707	32	47	GG		KEEP	---	---	---	---	capture		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	Nonsense_Mutation	SNP	27133802	27133802	767	15	G	A	A	41	41	APBA2	A	5	2
APBA2	321	broad.mit.edu	36	15	27133926	27133926	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:27133926G>T	uc001zck.1	+	c.547G>T	c.(547-549)GAT>TAT	p.D183Y	APBA2_uc010azj.1_Missense_Mutation_p.D183Y|APBA2_uc001zcl.1_Missense_Mutation_p.D183Y	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	183				DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)												0.414634	44.462612	44.72461	17	24	GG		KEEP	---	---	---	---	capture		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	Missense_Mutation	SNP	27133926	27133926	767	15	G	T	T	33	33	APBA2	T	3	3
TJP1	7082	broad.mit.edu	36	15	27805875	27805875	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:27805875C>T	uc010azl.1	-	c.2376G>A	c.(2374-2376)AAG>AAA	p.K792K	TJP1_uc001zcq.1_Silent_p.K808K|TJP1_uc001zcr.1_Silent_p.K804K|TJP1_uc001zcs.1_Silent_p.K804K	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	804					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)				Melanoma(77;681 1843 6309 6570)								0.396825	78.925467	79.49162	25	38	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	27805875	27805875	16458	15	C	T	T	24	24	TJP1	T	2	2
TJP1	7082	broad.mit.edu	36	15	27807464	27807464	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:27807464C>T	uc010azl.1	-	c.2033G>A	c.(2032-2034)CGC>CAC	p.R678H	TJP1_uc001zcq.1_Missense_Mutation_p.R694H|TJP1_uc001zcr.1_Missense_Mutation_p.R690H|TJP1_uc001zcs.1_Missense_Mutation_p.R690H	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	690	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)				Melanoma(77;681 1843 6309 6570)								0.356322	79.095409	80.679639	31	56	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	27807464	27807464	16458	15	C	T	T	27	27	TJP1	T	1	1
MTMR10	54893	broad.mit.edu	36	15	29021012	29021012	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:29021012C>T	uc001zfh.1	-	c.2287G>A	c.(2287-2289)GGG>AGG	p.G763R	FAN1_uc001zfe.1_Intron|FAN1_uc001zff.1_Intron|MTMR10_uc001zfg.1_Missense_Mutation_p.G344R|MTMR10_uc010azx.1_Missense_Mutation_p.G515R|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	763							phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)												0.315789	14.541106	15.115745	6	13	CC		KEEP	---	---	---	---	capture		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	Missense_Mutation	SNP	29021012	29021012	10332	15	C	T	T	21	21	MTMR10	T	2	2
MTMR10	54893	broad.mit.edu	36	15	29021232	29021232	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:29021232G>A	uc001zfh.1	-	c.2067C>T	c.(2065-2067)GTC>GTT	p.V689V	FAN1_uc001zfe.1_3'UTR|FAN1_uc001zff.1_3'UTR|MTMR10_uc001zfg.1_Silent_p.V270V|MTMR10_uc010azx.1_Silent_p.V441V|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	689							phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)												0.348837	38.710583	39.578262	15	28	GG		KEEP	---	---	---	---	capture		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	Silent	SNP	29021232	29021232	10332	15	G	A	A	37	37	MTMR10	A	1	1
TRPM1	4308	broad.mit.edu	36	15	29105669	29105669	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:29105669C>T	uc001zfm.1	-	c.3528G>A	c.(3526-3528)TCG>TCA	p.S1176S	TRPM1_uc010azy.1_Silent_p.S1083S|TRPM1_uc001zfl.1_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1176	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)												0.371795	74.172876	75.291509	29	49	CC		KEEP	---	---	---	---	capture		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	Silent	SNP	29105669	29105669	17136	15	C	T	T	19	19	TRPM1	T	1	1
TRPM1	4308	broad.mit.edu	36	15	29107911	29107911	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:29107911C>T	uc001zfm.1	-	c.3143G>A	c.(3142-3144)GGC>GAC	p.G1048D	TRPM1_uc010azy.1_Missense_Mutation_p.G955D|TRPM1_uc001zfl.1_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1048	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)												0.422414	134.245423	134.856473	49	67	CC		KEEP	---	---	---	---	capture		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	Missense_Mutation	SNP	29107911	29107911	17136	15	C	T	T	26	26	TRPM1	T	2	2
TRPM1	4308	broad.mit.edu	36	15	29108865	29108865	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:29108865C>T	uc001zfm.1	-	c.3082_splice	c.e23+1	p.P1028_splice	TRPM1_uc010azy.1_Splice_Site_SNP_p.P935_splice|TRPM1_uc001zfl.1_Splice_Site_SNP	NM_002420	NP_002411			transient receptor potential cation channel,						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)												0.466667	59.068538	59.112182	21	24	CC		KEEP	---	---	---	---	capture		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	Splice_Site_SNP	SNP	29108865	29108865	17136	15	C	T	T	19	19	TRPM1	T	5	1
TRPM1	4308	broad.mit.edu	36	15	29146683	29146683	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:29146683C>A	uc001zfm.1	-	c.428_splice	c.e5-1	p.G143_splice	TRPM1_uc010azy.1_Splice_Site_SNP_p.G56_splice|TRPM1_uc001zfl.1_Splice_Site_SNP|MIR211_hsa-mir-211|MI0000287_5'Flank	NM_002420	NP_002411			transient receptor potential cation channel,						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)												0.415929	119.083233	119.78496	47	66	CC		KEEP	---	---	---	---	capture		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	Splice_Site_SNP	SNP	29146683	29146683	17136	15	C	A	A	24	24	TRPM1	A	5	3
CHRNA7	1139	broad.mit.edu	36	15	30247566	30247566	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:30247566C>T	uc001zft.1	+	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V	CHRNA7_uc010baf.1_Missense_Mutation_p.A194V|CHRNA7_uc010bak.1_Missense_Mutation_p.A290V	NM_000746	NP_683709	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	375	Cytoplasmic (Potential).			A -> G (in Ref. 1; CAA49778).	activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)			Nicotine(DB00184)|Varenicline(DB01273)	Esophageal Squamous(193;529 2900 40232 43193)								0.21875	25.840532	30.492039	14	50	CC		KEEP	---	---	---	---	capture		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Missense_Mutation	SNP	30247566	30247566	3522	15	C	T	T	27	27	CHRNA7	T	1	1
ARHGAP11A	9824	broad.mit.edu	36	15	30716781	30716781	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:30716781C>T	uc001zgy.1	+	c.2515C>T	c.(2515-2517)CGT>TGT	p.R839C		NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A isoform 1	839					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|urinary_tract(1)|skin(1)	4		all_lung(180;1.3e-11)				Colon(45;757 1134 30003 36652)								0.352941	174.980047	178.552023	66	121	CC		KEEP	---	---	---	---	capture		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Missense_Mutation	SNP	30716781	30716781	874	15	C	T	T	31	31	ARHGAP11A	T	1	1
GREM1	26585	broad.mit.edu	36	15	30810534	30810534	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:30810534C>A	uc001zhe.1	+	c.351C>A	c.(349-351)TTC>TTA	p.F117L	GREM1_uc001zhd.1_Missense_Mutation_p.F47L|GREM1_uc010baq.1_Missense_Mutation_p.F117L	NM_013372	NP_037504	O60565	GREM1_HUMAN	gremlin-1 precursor	117	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity				0		all_lung(180;1.49e-09)												0.395349	87.626333	88.451675	34	52	CC		KEEP	---	---	---	---	capture		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	Missense_Mutation	SNP	30810534	30810534	7039	15	C	A	A	32	32	GREM1	A	3	3
FMN1	342184	broad.mit.edu	36	15	30981449	30981449	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:30981449G>A	uc001zhf.2	-	c.2793C>T	c.(2791-2793)ATC>ATT	p.I931I		NM_001103184	NP_001096654	C9JFW6	C9JFW6_HUMAN	formin 1	Error:Variant_position_missing_in_C9JFW6_after_alignment										ovary(1)	1		all_lung(180;1.14e-07)												0.532258	91.750644	91.804926	33	29	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	30981449	30981449	6191	15	G	A	A	45	45	FMN1	A	2	2
RYR3	6263	broad.mit.edu	36	15	31742415	31742415	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31742415C>T	uc001zhi.1	+	c.5392C>T	c.(5392-5394)CGA>TGA	p.R1798*	RYR3_uc010bar.1_Nonsense_Mutation_p.R1798*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1798	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)												0.422414	263.521308	264.734076	98	134	CC		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Nonsense_Mutation	SNP	31742415	31742415	14250	15	C	T	T	31	31	RYR3	T	5	1
RYR3	6263	broad.mit.edu	36	15	31802338	31802338	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31802338C>T	uc001zhi.1	+	c.6750C>T	c.(6748-6750)ATC>ATT	p.I2250I	RYR3_uc010bar.1_Silent_p.I2250I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2250	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)												0.408046	205.079864	206.368304	71	103	CC		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Silent	SNP	31802338	31802338	14250	15	C	T	T	32	32	RYR3	T	2	2
RYR3	6263	broad.mit.edu	36	15	31811184	31811184	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31811184G>A	uc001zhi.1	+	c.7421G>A	c.(7420-7422)TGC>TAC	p.C2474Y	RYR3_uc010bar.1_Missense_Mutation_p.C2474Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2474	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)												0.384615	26.741927	27.046027	10	16	GG		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Missense_Mutation	SNP	31811184	31811184	14250	15	G	A	A	46	46	RYR3	A	2	2
RYR3	6263	broad.mit.edu	36	15	31817976	31817976	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31817976T>G	uc001zhi.1	+	c.7549T>G	c.(7549-7551)TAT>GAT	p.Y2517D	RYR3_uc010bar.1_Missense_Mutation_p.Y2517D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2517	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)										OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.390244	51.494188	51.925593	16	25	TT		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Missense_Mutation	SNP	31817976	31817976	14250	15	T	G	G	57	57	RYR3	G	4	4
RYR3	6263	broad.mit.edu	36	15	31821865	31821865	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31821865C>A	uc001zhi.1	+	c.7827C>A	c.(7825-7827)TCC>TCA	p.S2609S	RYR3_uc010bar.1_Silent_p.S2609S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2609	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				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)												0.388889	56.358117	56.943606	21	33	CC		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Silent	SNP	31821865	31821865	14250	15	C	A	A	24	24	RYR3	A	3	3
RYR3	6263	broad.mit.edu	36	15	31851538	31851538	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31851538C>T	uc001zhi.1	+	c.8942C>T	c.(8941-8943)ACG>ATG	p.T2981M	RYR3_uc010bar.1_Missense_Mutation_p.T2981M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2981	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)												0.321429	22.463967	23.257648	9	19	CC		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Missense_Mutation	SNP	31851538	31851538	14250	15	C	T	T	19	19	RYR3	T	1	1
RYR3	6263	broad.mit.edu	36	15	31918003	31918004	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31918003_31918004CG>TA	uc001zhi.1	+	c.12530_12531CG>TA	c.(12529-12531)GCG>GTA	p.A4177V	RYR3_uc010bar.1_Missense_Mutation_p.A4172V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4177					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)												0.411765	73.980559	74.444462	28	40	CC		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Missense_Mutation	DNP	31918003	31918004	14250	15	CG	TA	TA	27	27	RYR3	TA	1	1
RYR3	6263	broad.mit.edu	36	15	31927856	31927856	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31927856G>A	uc001zhi.1	+	c.13570G>A	c.(13570-13572)GAA>AAA	p.E4524K	RYR3_uc010bar.1_Missense_Mutation_p.E4519K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4524					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)												0.403509	126.02521	126.953383	46	68	GG		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Missense_Mutation	SNP	31927856	31927856	14250	15	G	A	A	37	37	RYR3	A	1	1
SLC12A6	9990	broad.mit.edu	36	15	32317780	32317780	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:32317780A>C	uc001zhw.1	-	c.2747T>G	c.(2746-2748)ATT>AGT	p.I916S	SLC12A6_uc001zhu.1_Missense_Mutation_p.I728S|SLC12A6_uc001zhv.1_Missense_Mutation_p.I865S|SLC12A6_uc001zhz.1_Non-coding_Transcript|SLC12A6_uc001zhx.1_Missense_Mutation_p.I901S|SLC12A6_uc001zhy.1_Non-coding_Transcript|SLC12A6_uc001zia.1_Missense_Mutation_p.I857S|SLC12A6_uc001zib.1_Missense_Mutation_p.I907S|SLC12A6_uc001zic.1_Missense_Mutation_p.I916S|SLC12A6_uc010bau.1_Missense_Mutation_p.I916S|SLC12A6_uc001zid.1_Missense_Mutation_p.I857S|SLC12A6_uc001zht.1_Non-coding_Transcript	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	916	Helical; (Potential).				angiogenesis|potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)	6		all_lung(180;2.78e-08)			Potassium Chloride(DB00761)									0.306122	93.118756	96.400574	30	68	AA		KEEP	---	---	---	---	capture		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Missense_Mutation	SNP	32317780	32317780	14882	15	A	C	C	4	4	SLC12A6	C	4	4
SLC12A6	9990	broad.mit.edu	36	15	32337153	32337153	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:32337153G>T	uc001zhw.1	-	c.672C>A	c.(670-672)GTC>GTA	p.V224V	SLC12A6_uc001zhu.1_Intron|SLC12A6_uc001zhv.1_Silent_p.V173V|SLC12A6_uc001zhz.1_Non-coding_Transcript|SLC12A6_uc001zhx.1_Silent_p.V209V|SLC12A6_uc001zhy.1_Non-coding_Transcript|SLC12A6_uc001zia.1_Silent_p.V165V|SLC12A6_uc001zib.1_Silent_p.V215V|SLC12A6_uc001zic.1_Silent_p.V224V|SLC12A6_uc010bau.1_Silent_p.V224V|SLC12A6_uc001zid.1_Silent_p.V165V	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	224	Helical; (Potential).				angiogenesis|potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)	6		all_lung(180;2.78e-08)			Potassium Chloride(DB00761)									0.290909	36.07201	38.230362	16	39	GG		KEEP	---	---	---	---	capture		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Silent	SNP	32337153	32337153	14882	15	G	T	T	41	41	SLC12A6	T	3	3
C15orf55	256646	broad.mit.edu	36	15	32434993	32434993	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:32434993C>T	uc001zif.1	+	c.1408C>T	c.(1408-1410)CGA>TGA	p.R470*		NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	470						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)								408				0.301724	84.576547	88.651532	35	81	CC		KEEP	---	---	---	---	capture		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	Nonsense_Mutation	SNP	32434993	32434993	1853	15	C	T	T	27	27	C15orf55	T	5	1
AQR	9716	broad.mit.edu	36	15	32989734	32989734	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:32989734G>A	uc001ziv.1	-	c.1557C>T	c.(1555-1557)GTC>GTT	p.V519V		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	519					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)												0.418182	188.907013	189.853927	69	96	GG		KEEP	---	---	---	---	capture		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	Silent	SNP	32989734	32989734	846	15	G	A	A	37	37	AQR	A	1	1
ZNF770	54989	broad.mit.edu	36	15	33061465	33061465	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:33061465G>A	uc001ziw.1	-	c.1463C>T	c.(1462-1464)TCC>TTC	p.S488F	ZNF770_uc010baz.1_Missense_Mutation_p.S488F	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	488	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)												0.455696	105.392117	105.5269	36	43	GG		KEEP	---	---	---	---	capture		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	Missense_Mutation	SNP	33061465	33061465	18741	15	G	A	A	41	41	ZNF770	A	2	2
TMCO5A	145942	broad.mit.edu	36	15	36015825	36015825	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:36015825C>A	uc001zjw.1	+	c.9C>A	c.(7-9)ATC>ATA	p.I3I	TMCO5A_uc001zjv.1_Silent_p.I3I|TMCO5A_uc010bbc.1_Silent_p.I3I	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	3						integral to membrane				central_nervous_system(1)	1														0.362832	103.625609	105.503637	41	72	CC		KEEP	---	---	---	---	capture			Silent	SNP	36015825	36015825	16529	15	C	A	A	32	32	TMCO5A	A	3	3
SPRED1	161742	broad.mit.edu	36	15	36419311	36419311	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:36419311A>C	uc001zka.2	+	c.505A>C	c.(505-507)AGA>CGA	p.R169R		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	169					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)	2		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)				Melanoma(196;2146 2959 7698 16532)								0.4375	104.614771	104.886714	35	45	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	Silent	SNP	36419311	36419311	15605	15	A	C	C	15	15	SPRED1	C	4	4
SPRED1	161742	broad.mit.edu	36	15	36419374	36419374	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:36419374A>C	uc001zka.2	+	c.568A>C	c.(568-570)AGC>CGC	p.S190R		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	190					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)	2		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)				Melanoma(196;2146 2959 7698 16532)								0.369048	82.282799	83.594405	31	53	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	Missense_Mutation	SNP	36419374	36419374	15605	15	A	C	C	3	3	SPRED1	C	4	4
C15orf53	400359	broad.mit.edu	36	15	36776166	36776166	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:36776166A>G	uc001zkf.1	+	c.66A>G	c.(64-66)GAA>GAG	p.E22E		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	hypothetical protein LOC400359	22											0		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)												0.364341	153.39753	155.482989	47	82	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)	Silent	SNP	36776166	36776166	1851	15	A	G	G	1	1	C15orf53	G	4	4
C15orf54	400360	broad.mit.edu	36	15	37331832	37331832	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:37331832C>T	uc001zkg.1	+	c.204C>T	c.(202-204)ATC>ATT	p.I68I	C15orf54_uc010bbh.1_Silent_p.I68I	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	68											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)												0.426752	372.401352	373.868934	134	180	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	Silent	SNP	37331832	37331832	1852	15	C	T	T	31	31	C15orf54	T	1	1
THBS1	7057	broad.mit.edu	36	15	37666925	37666925	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:37666925C>T	uc001zkh.1	+	c.1206C>T	c.(1204-1206)CGC>CGT	p.R402R	THBS1_uc010bbi.1_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	402	TSP type-1 1.				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 oxygen and reactive oxygen species metabolic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|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			central_nervous_system(3)|ovary(2)	5		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)			Becaplermin(DB00102)									0.419355	34.16931	34.345105	13	18	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Silent	SNP	37666925	37666925	16381	15	C	T	T	27	27	THBS1	T	1	1
EIF2AK4	440275	broad.mit.edu	36	15	38105481	38105481	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38105481C>T	uc001zkm.1	+	c.4401C>T	c.(4399-4401)TTC>TTT	p.F1467F	EIF2AK4_uc010bbj.1_Silent_p.F1168F|EIF2AK4_uc001zkn.1_Silent_p.F567F|EIF2AK4_uc001zko.1_Silent_p.F348F|EIF2AK4_uc010bbk.1_Intron	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1467	Histidyl-tRNA synthetase-like.				protein phosphorylation|translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)								876				0.328358	56.220689	57.974216	22	45	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	Silent	SNP	38105481	38105481	5188	15	C	T	T	31	31	EIF2AK4	T	1	1
PLCB2	5330	broad.mit.edu	36	15	38378115	38378115	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38378115C>T	uc001zld.1	-	c.937G>A	c.(937-939)GAC>AAC	p.D313N	PLCB2_uc010bbo.1_Missense_Mutation_p.D313N	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	313	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)								1073				0.375	30.891119	31.330274	12	20	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	Missense_Mutation	SNP	38378115	38378115	12454	15	C	T	T	31	31	PLCB2	T	1	1
C15orf52	388115	broad.mit.edu	36	15	38418113	38418113	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38418113T>C	uc001zlh.2	-	c.560A>G	c.(559-561)AAC>AGC	p.N187S	C15orf52_uc001zli.1_Missense_Mutation_p.N119S	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	187										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)										OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.477477	188.577249	188.62569	53	58	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	Missense_Mutation	SNP	38418113	38418113	1850	15	T	C	C	60	60	C15orf52	C	4	4
DISP2	85455	broad.mit.edu	36	15	38449089	38449089	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38449089C>T	uc001zlk.1	+	c.3484C>T	c.(3484-3486)CAA>TAA	p.Q1162*		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	1162					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)												0.362963	118.917707	121.156249	49	86	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	Nonsense_Mutation	SNP	38449089	38449089	4719	15	C	T	T	25	25	DISP2	T	5	2
C15orf23	90417	broad.mit.edu	36	15	38462351	38462351	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38462351C>A	uc001zll.1	+	c.23C>A	c.(22-24)CCC>CAC	p.P8H	C15orf23_uc001zlm.1_Non-coding_Transcript|C15orf23_uc001zln.1_Non-coding_Transcript|C15orf23_uc001zlo.1_Missense_Mutation_p.P8H	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	8						nucleus	protein binding			ovary(1)	1		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)												0.615385	23.000583	23.15179	8	5	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	Missense_Mutation	SNP	38462351	38462351	1835	15	C	A	A	22	22	C15orf23	A	3	3
C15orf23	90417	broad.mit.edu	36	15	38462449	38462449	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38462449G>A	uc001zll.1	+	c.121G>A	c.(121-123)GCC>ACC	p.A41T	C15orf23_uc001zlm.1_Non-coding_Transcript|C15orf23_uc001zln.1_Non-coding_Transcript|C15orf23_uc001zlo.1_Missense_Mutation_p.A41T	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	41						nucleus	protein binding			ovary(1)	1		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)												0.394366	153.977088	155.360724	56	86	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	Missense_Mutation	SNP	38462449	38462449	1835	15	G	A	A	42	42	C15orf23	A	2	2
C15orf23	90417	broad.mit.edu	36	15	38471465	38471465	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38471465G>T	uc001zll.1	+	c.771G>T	c.(769-771)GAG>GAT	p.E257D	C15orf23_uc001zlm.1_Non-coding_Transcript|C15orf23_uc001zln.1_Non-coding_Transcript|C15orf23_uc001zlo.1_Nonsense_Mutation_p.G237*	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	257	Potential.					nucleus	protein binding			ovary(1)	1		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)												0.274854	110.243583	118.05662	47	124	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	Missense_Mutation	SNP	38471465	38471465	1835	15	G	T	T	35	35	C15orf23	T	3	3
BAHD1	22893	broad.mit.edu	36	15	38539137	38539137	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38539137G>A	uc001zlu.2	+	c.1182G>A	c.(1180-1182)TCG>TCA	p.S394S	BAHD1_uc001zlt.2_Silent_p.S394S|BAHD1_uc010bbp.1_Silent_p.S394S|BAHD1_uc001zlv.2_Silent_p.S394S	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	394					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)												0.346939	76.555532	78.565726	34	64	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	Silent	SNP	38539137	38539137	1318	15	G	A	A	38	38	BAHD1	A	1	1
CASC5	57082	broad.mit.edu	36	15	38704530	38704530	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38704530G>T	uc010bbs.1	+	c.4854G>T	c.(4852-4854)AAG>AAT	p.K1618N	CASC5_uc001zme.2_Missense_Mutation_p.K1592N|CASC5_uc010bbt.1_Missense_Mutation_p.K1592N|CASC5_uc010bbu.1_Missense_Mutation_p.K1442N	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1618					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(1)|central_nervous_system(1)	2		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)								629				0.428571	128.252696	128.755935	48	64	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	Missense_Mutation	SNP	38704530	38704530	2782	15	G	T	T	35	35	CASC5	T	3	3
ZFYVE19	84936	broad.mit.edu	36	15	38893710	38893710	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38893710G>T	uc001zmt.1	+	c.1410G>T	c.(1408-1410)GAG>GAT	p.E470D	ZFYVE19_uc001zmu.1_Missense_Mutation_p.E402D|ZFYVE19_uc001zmv.1_Missense_Mutation_p.E295D|ZFYVE19_uc001zmw.1_Missense_Mutation_p.E295D|ZFYVE19_uc001zmx.1_3'UTR|ZFYVE19_uc010bcc.1_Missense_Mutation_p.E295D	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	470							zinc ion binding				0		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)												0.442623	77.91501	78.09024	27	34	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	Missense_Mutation	SNP	38893710	38893710	18255	15	G	T	T	34	34	ZFYVE19	T	3	3
PPP1R14D	54866	broad.mit.edu	36	15	38907921	38907921	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38907921C>T	uc001zmy.1	-	c.211G>A	c.(211-213)GAG>AAG	p.E71K	PPP1R14D_uc001zmz.1_Missense_Mutation_p.E71K	NM_017726	NP_060196	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory subunit 14D	71					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)												0.461078	216.71531	216.939074	77	90	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	Missense_Mutation	SNP	38907921	38907921	12797	15	C	T	T	30	30	PPP1R14D	T	2	2
CHAC1	79094	broad.mit.edu	36	15	39034936	39034936	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39034936G>A	uc001znh.1	+	c.341G>A	c.(340-342)CGA>CAA	p.R114Q		NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	156					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)												0.394531	272.9081	275.402346	101	155	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)	Missense_Mutation	SNP	39034936	39034936	3441	15	G	A	A	37	37	CHAC1	A	1	1
INO80	54617	broad.mit.edu	36	15	39153906	39153906	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39153906G>A	uc001zni.1	-	c.1281C>T	c.(1279-1281)ATC>ATT	p.I427I		NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	427					chromatin remodeling	nucleus	ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)	3														0.37551	250.7331	254.068128	92	153	GG		KEEP	---	---	---	---	capture			Silent	SNP	39153906	39153906	8047	15	G	A	A	37	37	INO80	A	1	1
NDUFAF1	51103	broad.mit.edu	36	15	39476378	39476378	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39476378C>T	uc001znx.1	-	c.172G>A	c.(172-174)GAT>AAT	p.D58N	NDUFAF1_uc010bcf.1_Non-coding_Transcript	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	58					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			ovary(1)	1		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)												0.413953	237.952497	239.359589	89	126	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	Missense_Mutation	SNP	39476378	39476378	10673	15	C	T	T	30	30	NDUFAF1	T	2	2
RTF1	23168	broad.mit.edu	36	15	39550779	39550779	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39550779T>G	uc001zny.1	+	c.768T>G	c.(766-768)ACT>ACG	p.T256T		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	381	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)												0.331034	143.056733	146.722049	48	97	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	Silent	SNP	39550779	39550779	14201	15	T	G	G	55	55	RTF1	G	4	4
LTK	4058	broad.mit.edu	36	15	39583917	39583917	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39583917C>T	uc001zoa.2	-	c.2261G>A	c.(2260-2262)CGC>CAC	p.R754H	LTK_uc010bcg.1_Missense_Mutation_p.R365H|LTK_uc001zob.2_Missense_Mutation_p.R693H	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	754	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)								314	TSP Lung(18;0.14)			0.314286	53.218364	55.370334	22	48	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	Missense_Mutation	SNP	39583917	39583917	9456	15	C	T	T	27	27	LTK	T	1	1
RPAP1	26015	broad.mit.edu	36	15	39600248	39600248	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39600248C>T	uc001zod.1	-	c.3428G>A	c.(3427-3429)CGC>CAC	p.R1143H	RPAP1_uc001zoc.1_Missense_Mutation_p.R162H	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1143	Leu-rich.					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)												0.507246	95.716509	95.719597	35	34	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	39600248	39600248	14020	15	C	T	T	27	27	RPAP1	T	1	1
MAPKBP1	23005	broad.mit.edu	36	15	39891596	39891596	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39891596C>T	uc001zok.2	+	c.477C>T	c.(475-477)ATC>ATT	p.I159I	MAPKBP1_uc001zoj.2_Silent_p.I159I|MAPKBP1_uc010bci.1_Silent_p.I159I|MAPKBP1_uc010bcj.1_5'UTR|MAPKBP1_uc010bck.1_5'UTR|MAPKBP1_uc010bcl.1_5'Flank	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	159	WD 2.									central_nervous_system(4)|breast(2)|pancreas(1)	7		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)								360		OREG0023077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.431818	215.107593	215.812403	76	100	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	Silent	SNP	39891596	39891596	9675	15	C	T	T	31	31	MAPKBP1	T	1	1
MAPKBP1	23005	broad.mit.edu	36	15	39895168	39895168	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39895168G>T	uc001zok.2	+	c.1390G>T	c.(1390-1392)GAG>TAG	p.E464*	MAPKBP1_uc001zoj.2_Nonsense_Mutation_p.E458*|MAPKBP1_uc010bci.1_Nonsense_Mutation_p.E458*|MAPKBP1_uc010bcj.1_5'UTR|MAPKBP1_uc010bck.1_5'UTR|MAPKBP1_uc010bcl.1_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	464										central_nervous_system(4)|breast(2)|pancreas(1)	7		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)								360				0.42	52.763242	53.041818	21	29	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	Nonsense_Mutation	SNP	39895168	39895168	9675	15	G	T	T	33	33	MAPKBP1	T	5	3
MAPKBP1	23005	broad.mit.edu	36	15	39896056	39896056	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39896056G>A	uc001zok.2	+	c.1519G>A	c.(1519-1521)GAA>AAA	p.E507K	MAPKBP1_uc001zoj.2_Missense_Mutation_p.E501K|MAPKBP1_uc010bci.1_Missense_Mutation_p.E501K|MAPKBP1_uc010bcj.1_Missense_Mutation_p.E8K|MAPKBP1_uc010bck.1_5'UTR|MAPKBP1_uc010bcl.1_Missense_Mutation_p.E8K	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	507	WD 7.									central_nervous_system(4)|breast(2)|pancreas(1)	7		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)								360				0.292308	45.39895	47.910201	19	46	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	Missense_Mutation	SNP	39896056	39896056	9675	15	G	A	A	37	37	MAPKBP1	A	1	1
JMJD7-PLA2G4B	8681	broad.mit.edu	36	15	39920374	39920374	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39920374G>T	uc001zoo.2	+	c.1023G>T	c.(1021-1023)GAG>GAT	p.E341D	JMJD7-PLA2G4B_uc010bcn.1_Missense_Mutation_p.E341D|JMJD7-PLA2G4B_uc001zoq.2_5'UTR|JMJD7-PLA2G4B_uc010bco.1_Missense_Mutation_p.E110D|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	JMJD7-PLA2G4B protein	110					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	p.E337_E341del(1)		large_intestine(1)	1														0.417722	86.552108	87.020839	33	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39920374	39920374	8259	15	G	T	T	33	33	JMJD7-PLA2G4B	T	3	3
SPTBN5	51332	broad.mit.edu	36	15	39972810	39972810	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39972810A>C	uc001zos.1	-	c.73T>G	c.(73-75)TTC>GTC	p.F25V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	60	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)												0.310811	68.401787	70.758562	23	51	AA		KEEP	---	---	---	---	capture		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	Missense_Mutation	SNP	39972810	39972810	15636	15	A	C	C	1	1	SPTBN5	C	4	4
EHD4	30844	broad.mit.edu	36	15	39980154	39980154	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39980154G>A	uc001zot.1	-	c.1607C>T	c.(1606-1608)TCC>TTC	p.S536F		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	536					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)												0.475	54.825429	54.846802	19	21	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	39980154	39980154	5169	15	G	A	A	41	41	EHD4	A	2	2
EHD4	30844	broad.mit.edu	36	15	40022592	40022592	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40022592C>T	uc001zot.1	-	c.476G>A	c.(475-477)GGC>GAC	p.G159D	EHD4_uc001zou.1_Missense_Mutation_p.G159D	NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	159					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)												0.214286	6.817075	7.872628	3	11	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	40022592	40022592	5169	15	C	T	T	26	26	EHD4	T	2	2
PLA2G4E	123745	broad.mit.edu	36	15	40065460	40065460	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40065460C>T	uc001zow.1	-	c.1984G>A	c.(1984-1986)GAG>AAG	p.E662K	PLA2G4E_uc001zov.1_Missense_Mutation_p.E315K	NM_001080490	NP_001073959	C9JK77	C9JK77_HUMAN	phospholipase A2, group IVE	662					phospholipid catabolic process						0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)												0.25	9.092228	10.001462	4	12	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	Missense_Mutation	SNP	40065460	40065460	12431	15	C	T	T	31	31	PLA2G4E	T	1	1
PLA2G4D	283748	broad.mit.edu	36	15	40151373	40151373	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40151373G>A	uc001zox.1	-	c.1464C>T	c.(1462-1464)GTC>GTT	p.V488V		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	488	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)	1		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)												0.423077	59.239398	59.508004	22	30	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	Silent	SNP	40151373	40151373	12430	15	G	A	A	37	37	PLA2G4D	A	1	1
VPS39	23339	broad.mit.edu	36	15	40247024	40247024	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40247024G>A	uc001zpd.1	-	c.1270C>T	c.(1270-1272)CGA>TGA	p.R424*	VPS39_uc001zpb.1_5'Flank|VPS39_uc001zpc.1_Nonsense_Mutation_p.R413*	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	424					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)	2		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)												0.43038	91.72583	92.061664	34	45	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;3.05e-06)	Nonsense_Mutation	SNP	40247024	40247024	17776	15	G	A	A	40	40	VPS39	A	5	1
GANC	2595	broad.mit.edu	36	15	40427592	40427592	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40427592G>T	uc001zpi.1	+	c.2305_splice	c.e21-1	p.I769_splice	CAPN3_uc001zpk.1_5'Flank|CAPN3_uc001zpl.1_5'Flank|CAPN3_uc001zpm.1_5'Flank	NM_198141	NP_937784			glucosidase, alpha; neutral C						carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)												0.350877	49.976112	51.097209	20	37	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;1.06e-06)	Splice_Site_SNP	SNP	40427592	40427592	6498	15	G	T	T	33	33	GANC	T	5	3
ZFP106	64397	broad.mit.edu	36	15	40516799	40516799	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40516799C>T	uc001zpw.1	-	c.4600G>A	c.(4600-4602)GTA>ATA	p.V1534I	ZFP106_uc001zpu.1_Missense_Mutation_p.V632I|ZFP106_uc001zpv.1_Missense_Mutation_p.V719I|ZFP106_uc001zpx.1_Missense_Mutation_p.V762I	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1534	WD 1.					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)												0.298246	125.887808	132.093688	51	120	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;8.6e-07)	Missense_Mutation	SNP	40516799	40516799	18225	15	C	T	T	19	19	ZFP106	T	1	1
ZFP106	64397	broad.mit.edu	36	15	40536458	40536458	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40536458C>A	uc001zpw.1	-	c.238G>T	c.(238-240)GAA>TAA	p.E80*	ZFP106_uc001zpv.1_Intron|ZFP106_uc001zpx.1_Intron|ZFP106_uc001zpy.1_Nonsense_Mutation_p.E103*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	80						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)												0.393939	34.164286	34.490291	13	20	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;8.6e-07)	Nonsense_Mutation	SNP	40536458	40536458	18225	15	C	A	A	32	32	ZFP106	A	5	3
SNAP23	8773	broad.mit.edu	36	15	40607852	40607852	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40607852A>G	uc001zpz.1	+	c.367A>G	c.(367-369)ACA>GCA	p.T123A	SNAP23_uc001zqa.1_Intron	NM_003825	NP_003816	O00161	SNP23_HUMAN	synaptosomal-associated protein 23 isoform	123					cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding				0		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)												0.414634	103.788004	104.319582	34	48	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;2.62e-06)	Missense_Mutation	SNP	40607852	40607852	15329	15	A	G	G	10	10	SNAP23	G	4	4
LRRC57	255252	broad.mit.edu	36	15	40624723	40624723	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40624723G>A	uc001zqc.1	-	c.522C>T	c.(520-522)TGC>TGT	p.C174C	LRRC57_uc001zqd.1_Silent_p.C174C	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	174	LRR 6.										0		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)												0.516129	91.295264	91.309085	32	30	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;6.87e-07)	Silent	SNP	40624723	40624723	9388	15	G	A	A	34	34	LRRC57	A	2	2
UBR1	197131	broad.mit.edu	36	15	41116053	41116053	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41116053C>T	uc001zqq.1	-	c.2053G>A	c.(2053-2055)GAA>AAA	p.E685K		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	685						cytosol	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)												0.375	131.941975	133.589377	45	75	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	Missense_Mutation	SNP	41116053	41116053	17459	15	C	T	T	32	32	UBR1	T	2	2
TMEM62	80021	broad.mit.edu	36	15	41226093	41226093	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41226093G>T	uc001zqr.1	+	c.587G>T	c.(586-588)AGA>ATA	p.R196I	TMEM62_uc010bda.1_Missense_Mutation_p.R66I	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	196						integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)												0.381323	250.142957	253.332307	98	159	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;4.23e-07)	Missense_Mutation	SNP	41226093	41226093	16728	15	G	T	T	33	33	TMEM62	T	3	3
CCNDBP1	23582	broad.mit.edu	36	15	41271080	41271080	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41271080C>T	uc001zqv.1	+	c.775C>T	c.(775-777)CGG>TGG	p.R259W	CCNDBP1_uc001zqu.1_Missense_Mutation_p.R131W|CCNDBP1_uc001zqw.1_Non-coding_Transcript|CCNDBP1_uc010bdb.1_Missense_Mutation_p.R131W|CCNDBP1_uc001zqx.1_Missense_Mutation_p.R131W|CCNDBP1_uc010bdc.1_Missense_Mutation_p.R259W|CCNDBP1_uc010bdd.1_Missense_Mutation_p.R131W|CCNDBP1_uc001zqy.1_Missense_Mutation_p.R131W	NM_012142	NP_411241	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1 isoform 1	259	Interaction with TCF3.|Interaction with RPLP0.				cell cycle	cytoplasm|nucleus	protein binding	p.R259R(1)		ovary(1)|kidney(1)	2		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)												0.442857	86.712459	86.911968	31	39	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;8.42e-07)	Missense_Mutation	SNP	41271080	41271080	3046	15	C	T	T	31	31	CCNDBP1	T	1	1
TP53BP1	7158	broad.mit.edu	36	15	41536309	41536309	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41536309C>A	uc001zrr.2	-	c.1789G>T	c.(1789-1791)GAC>TAC	p.D597Y	TP53BP1_uc001zrq.2_Missense_Mutation_p.D597Y|TP53BP1_uc001zrs.1_Missense_Mutation_p.D592Y	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	592					double-strand break repair via homologous recombination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore|cytoplasm|nucleoplasm	protein binding|transcription activator activity			ovary(2)|large_intestine(1)|pancreas(1)|kidney(1)|skin(1)	6		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)								421				0.355932	155.455288	158.700088	63	114	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;1.59e-06)	Missense_Mutation	SNP	41536309	41536309	16925	15	C	A	A	32	32	TP53BP1	A	3	3
STRC	161497	broad.mit.edu	36	15	41684783	41684783	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41684783C>T	uc001zsf.1	-	c.3901G>A	c.(3901-3903)GCC>ACC	p.A1301T	PPIP5K1_uc001zsa.2_Intron|STRC_uc010bdk.1_5'Flank|STRC_uc001zse.1_Intron|STRC_uc010bdl.1_Missense_Mutation_p.A528T	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	stereocilin	1301					sensory perception of sound	cell surface					0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)												0.611111	31.019918	31.212846	11	7	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;3.56e-07)	Missense_Mutation	SNP	41684783	41684783	15848	15	C	T	T	28	28	STRC	T	2	2
MFAP1	4236	broad.mit.edu	36	15	41892476	41892476	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41892476C>T	uc001zth.1	-	c.887_splice	c.e6+1	p.A296_splice		NM_005926	NP_005917			microfibrillar-associated protein 1							microfibril				skin(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)												0.369305	405.528625	411.792611	154	263	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;4.33e-07)	Splice_Site_SNP	SNP	41892476	41892476	9903	15	C	T	T	19	19	MFAP1	T	5	1
CTDSPL2	51496	broad.mit.edu	36	15	42570444	42570444	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:42570444G>T	uc001ztr.1	+	c.646G>T	c.(646-648)GAA>TAA	p.E216*	CTDSPL2_uc001zts.1_Nonsense_Mutation_p.E216*|CTDSPL2_uc001ztt.1_Nonsense_Mutation_p.E216*|CTDSPL2_uc010bdv.1_Intron	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	216							phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)												0.337838	122.740324	126.213711	50	98	GG		KEEP	---	---	---	---	capture		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	Nonsense_Mutation	SNP	42570444	42570444	4165	15	G	T	T	33	33	CTDSPL2	T	5	3
B2M	567	broad.mit.edu	36	15	42795005	42795005	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:42795005G>A	uc001zuc.1	+	c.160G>A	c.(160-162)GAC>AAC	p.D54N	B2M_uc010bdx.1_Missense_Mutation_p.D54N	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	54	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)	2		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)												0.371134	196.344812	199.17706	72	122	GG		KEEP	---	---	---	---	capture		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	Missense_Mutation	SNP	42795005	42795005	1265	15	G	A	A	37	37	B2M	A	1	1
TRIM69	140691	broad.mit.edu	36	15	42846917	42846917	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:42846917G>T	uc001zuf.2	+	c.1158G>T	c.(1156-1158)AAG>AAT	p.K386N	TRIM69_uc001zui.1_Missense_Mutation_p.K182N|TRIM69_uc010bdy.1_Missense_Mutation_p.K165N|TRIM69_uc001zug.1_Missense_Mutation_p.K386N|TRIM69_uc001zuh.1_Missense_Mutation_p.K227N	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	386	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)				Pancreas(84;519 1450 1802 20427 34706)								0.404412	140.979131	142.070208	55	81	GG		KEEP	---	---	---	---	capture		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	Missense_Mutation	SNP	42846917	42846917	17091	15	G	T	T	33	33	TRIM69	T	3	3
DUOX2	50506	broad.mit.edu	36	15	43177515	43177515	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:43177515G>T	uc010bea.1	-	c.3549C>A	c.(3547-3549)TTC>TTA	p.F1183L	DUOX2_uc001zun.1_Missense_Mutation_p.F1183L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1183	Extracellular (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|pancreas(1)	3		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)												0.318841	49.014356	51.033244	22	47	GG		KEEP	---	---	---	---	capture		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	Missense_Mutation	SNP	43177515	43177515	4986	15	G	T	T	33	33	DUOX2	T	3	3
DUOX2	50506	broad.mit.edu	36	15	43179239	43179239	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:43179239G>A	uc010bea.1	-	c.3328C>T	c.(3328-3330)CGA>TGA	p.R1110*	DUOX2_uc001zun.1_Nonsense_Mutation_p.R1110*	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1110	Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|pancreas(1)	3		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)												0.408333	129.847015	130.728689	49	71	GG		KEEP	---	---	---	---	capture		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	Nonsense_Mutation	SNP	43179239	43179239	4986	15	G	A	A	38	38	DUOX2	A	5	1
DUOX1	53905	broad.mit.edu	36	15	43224417	43224417	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:43224417G>A	uc001zus.1	+	c.2169G>A	c.(2167-2169)CAG>CAA	p.Q723Q	DUOX1_uc001zut.1_Silent_p.Q723Q|DUOX1_uc010bee.1_Silent_p.Q103Q|DUOX1_uc001zuu.2_5'Flank	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	723	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction 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)|breast(1)	6		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)												0.396648	211.678787	213.354158	71	108	GG		KEEP	---	---	---	---	capture		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	Silent	SNP	43224417	43224417	4985	15	G	A	A	35	35	DUOX1	A	2	2
SPATA5L1	79029	broad.mit.edu	36	15	43500624	43500624	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:43500624C>T	uc001zve.1	+	c.2186C>T	c.(2185-2187)TCG>TTG	p.S729L	SPATA5L1_uc001zvf.1_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	729						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(2)	2		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)												0.263889	45.39069	49.021451	19	53	CC		KEEP	---	---	---	---	capture		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	Missense_Mutation	SNP	43500624	43500624	15522	15	C	T	T	31	31	SPATA5L1	T	1	1
SLC12A1	6557	broad.mit.edu	36	15	46287623	46287623	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46287623G>A	uc001zwn.2	+	c.415G>A	c.(415-417)GCA>ACA	p.A139T	SLC12A1_uc010bem.1_Missense_Mutation_p.A139T	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	139	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)			Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.428571	128.375262	128.87447	48	64	GG		KEEP	---	---	---	---	capture		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Missense_Mutation	SNP	46287623	46287623	14877	15	G	A	A	38	38	SLC12A1	A	1	1
SLC12A1	6557	broad.mit.edu	36	15	46378764	46378764	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46378764G>T	uc001zwn.2	+	c.3096G>T	c.(3094-3096)AAG>AAT	p.K1032N	SLC12A1_uc001zwq.2_Missense_Mutation_p.K803N|SLC12A1_uc001zwr.2_Missense_Mutation_p.K759N	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	1032	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)			Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.375	24.067005	24.396969	9	15	GG		KEEP	---	---	---	---	capture		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Missense_Mutation	SNP	46378764	46378764	14877	15	G	T	T	35	35	SLC12A1	T	3	3
FBN1	2200	broad.mit.edu	36	15	46495248	46495248	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46495248C>T	uc001zwx.1	-	c.7828G>A	c.(7828-7830)GAA>AAA	p.E2610K	FBN1_uc010beo.1_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2610	EGF-like 46; calcium-binding.		E -> K (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)								2933				0.328571	115.012431	118.655185	46	94	CC		KEEP	---	---	---	---	capture		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	Missense_Mutation	SNP	46495248	46495248	5938	15	C	T	T	31	31	FBN1	T	1	1
FBN1	2200	broad.mit.edu	36	15	46507072	46507072	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46507072G>T	uc001zwx.1	-	c.7188C>A	c.(7186-7188)TTC>TTA	p.F2396L	FBN1_uc010beo.1_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2396					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)								2933				0.417391	131.675232	132.360938	48	67	GG		KEEP	---	---	---	---	capture		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	Missense_Mutation	SNP	46507072	46507072	5938	15	G	T	T	45	45	FBN1	T	3	3
FBN1	2200	broad.mit.edu	36	15	46547448	46547448	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46547448T>C	uc001zwx.1	-	c.4726A>G	c.(4726-4728)ATG>GTG	p.M1576V	FBN1_uc010beo.1_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1576	TB 6.		M -> T (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)								2933				0.408602	127.549088	128.223048	38	55	TT		KEEP	---	---	---	---	capture		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	Missense_Mutation	SNP	46547448	46547448	5938	15	T	C	C	50	50	FBN1	C	4	4
FBN1	2200	broad.mit.edu	36	15	46569561	46569561	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46569561C>T	uc001zwx.1	-	c.2861G>A	c.(2860-2862)CGC>CAC	p.R954H		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	954					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)								2933				0.475	54.423714	54.445245	19	21	CC		KEEP	---	---	---	---	capture		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	Missense_Mutation	SNP	46569561	46569561	5938	15	C	T	T	27	27	FBN1	T	1	1
ATP8B4	79895	broad.mit.edu	36	15	47945844	47945844	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:47945844G>A	uc001zxu.1	-	c.3157C>T	c.(3157-3159)CCA>TCA	p.P1053S	ATP8B4_uc010ber.1_Missense_Mutation_p.P926S|ATP8B4_uc001zxt.1_Missense_Mutation_p.P56S	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1053	Extracellular (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)												0.45	107.089554	107.26359	36	44	GG		KEEP	---	---	---	---	capture		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	Missense_Mutation	SNP	47945844	47945844	1216	15	G	A	A	41	41	ATP8B4	A	2	2
ATP8B4	79895	broad.mit.edu	36	15	47955931	47955931	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:47955931A>G	uc001zxu.1	-	c.2863T>C	c.(2863-2865)TTT>CTT	p.F955L	ATP8B4_uc010ber.1_Missense_Mutation_p.F828L|ATP8B4_uc001zxt.1_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	955	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)												0.380952	103.485286	104.527572	32	52	AA		KEEP	---	---	---	---	capture		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	Missense_Mutation	SNP	47955931	47955931	1216	15	A	G	G	4	4	ATP8B4	G	4	4
SLC27A2	11001	broad.mit.edu	36	15	48261953	48261953	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48261953C>A	uc001zxw.1	+	c.37C>A	c.(37-39)CTG>ATG	p.L13M	SLC27A2_uc010bes.1_Missense_Mutation_p.L13M	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	13	Helical; (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)	1		all_lung(180;0.00177)												0.384615	12.469987	12.622278	5	8	CC		KEEP	---	---	---	---	capture		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	Missense_Mutation	SNP	48261953	48261953	15023	15	C	A	A	28	28	SLC27A2	A	3	3
HDC	3067	broad.mit.edu	36	15	48342809	48342809	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48342809C>T	uc001zxz.1	-	c.119G>A	c.(118-120)CGA>CAA	p.R40Q	HDC_uc010bet.1_Missense_Mutation_p.R40Q|HDC_uc010beu.1_Missense_Mutation_p.R40Q	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	40					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|central_nervous_system(1)	3		all_lung(180;0.0138)			L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GBM(95;1627 1936 6910 9570)								0.342697	155.926819	159.815096	61	117	CC		KEEP	---	---	---	---	capture		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	Missense_Mutation	SNP	48342809	48342809	7298	15	C	T	T	31	31	HDC	T	1	1
USP50	373509	broad.mit.edu	36	15	48618310	48618310	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48618310C>T	uc001zyq.2	-	c.706G>A	c.(706-708)GCA>ACA	p.A236T		NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	ubiquitin specific protease 50	231					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity				0														0.340426	42.483413	43.542318	16	31	CC		KEEP	---	---	---	---	capture		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	Missense_Mutation	SNP	48618310	48618310	17646	15	C	T	T	27	27	USP50	T	1	1
TRPM7	54822	broad.mit.edu	36	15	48673122	48673122	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48673122G>A	uc001zyt.2	-	c.3592C>T	c.(3592-3594)CGT>TGT	p.R1198C	TRPM7_uc010bew.1_Missense_Mutation_p.R1198C	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1198	Cytoplasmic (Potential).|By similarity.				cell death|protein phosphorylation	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|breast(1)|central_nervous_system(1)	8										1796				0.385542	87.577001	88.5312	32	51	GG		KEEP	---	---	---	---	capture		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	Missense_Mutation	SNP	48673122	48673122	17142	15	G	A	A	37	37	TRPM7	A	1	1
TRPM7	54822	broad.mit.edu	36	15	48678620	48678620	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48678620C>A	uc001zyt.2	-	c.3154G>T	c.(3154-3156)GAA>TAA	p.E1052*	TRPM7_uc010bew.1_Nonsense_Mutation_p.E1052*	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1052					cell death|protein phosphorylation	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|breast(1)|central_nervous_system(1)	8									p.E1052K(JHUEM7-Tumor)	1796				0.384615	113.070921	114.286247	40	64	CC		KEEP	---	---	---	---	capture		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	Nonsense_Mutation	SNP	48678620	48678620	17142	15	C	A	A	31	31	TRPM7	A	5	3
TRPM7	54822	broad.mit.edu	36	15	48722899	48722899	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48722899C>T	uc001zyt.2	-	c.465G>A	c.(463-465)TTG>TTA	p.L155L	TRPM7_uc010bew.1_Silent_p.L155L	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	155	Cytoplasmic (Potential).				cell death|protein phosphorylation	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|breast(1)|central_nervous_system(1)	8										1796				0.36	158.45492	161.483303	63	112	CC		KEEP	---	---	---	---	capture		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	Silent	SNP	48722899	48722899	17142	15	C	T	T	25	25	TRPM7	T	2	2
AP4E1	23431	broad.mit.edu	36	15	49076927	49076927	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49076927C>T	uc001zyx.1	+	c.2459C>T	c.(2458-2460)TCT>TTT	p.S820F	AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	820					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0														0.336066	109.027581	111.933009	41	81	CC		KEEP	---	---	---	---	capture		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	Missense_Mutation	SNP	49076927	49076927	762	15	C	T	T	32	32	AP4E1	T	2	2
AP4E1	23431	broad.mit.edu	36	15	49078609	49078609	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49078609A>G	uc001zyx.1	+	c.2953A>G	c.(2953-2955)ACC>GCC	p.T985A	AP4E1_uc010bex.1_Intron	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	985					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0														0.311111	78.070815	80.92853	28	62	AA		KEEP	---	---	---	---	capture		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	Missense_Mutation	SNP	49078609	49078609	762	15	A	G	G	6	6	AP4E1	G	4	4
TNFAIP8L3	388121	broad.mit.edu	36	15	49137598	49137598	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49137598G>A	uc001zyy.1	-	c.651C>T	c.(649-651)TTC>TTT	p.F217F		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	217											0														0.28125	64.783002	68.912946	27	69	GG		KEEP	---	---	---	---	capture		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	Silent	SNP	49137598	49137598	16820	15	G	A	A	37	37	TNFAIP8L3	A	1	1
CYP19A1	1588	broad.mit.edu	36	15	49290442	49290442	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49290442C>A	uc001zyz.2	-	c.1367G>T	c.(1366-1368)AGA>ATA	p.R456I	CYP19A1_uc001zza.2_Missense_Mutation_p.R456I	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	456					estrogen biosynthetic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity				0					Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	Melanoma(142;1016 1807 39614 48966 51721)				147				0.432432	127.270038	127.714091	48	63	CC		KEEP	---	---	---	---	capture		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Missense_Mutation	SNP	49290442	49290442	4313	15	C	A	A	32	32	CYP19A1	A	3	3
CYP19A1	1588	broad.mit.edu	36	15	49298051	49298051	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49298051T>A	uc001zyz.2	-	c.722A>T	c.(721-723)TAC>TTC	p.Y241F	CYP19A1_uc001zza.2_Missense_Mutation_p.Y241F|CYP19A1_uc001zzb.2_Missense_Mutation_p.Y241F|CYP19A1_uc001zzc.1_5'Flank	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	241					estrogen biosynthetic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity				0					Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	Melanoma(142;1016 1807 39614 48966 51721)				147				0.432432	47.196068	47.342919	16	21	TT		KEEP	---	---	---	---	capture		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Missense_Mutation	SNP	49298051	49298051	4313	15	T	A	A	57	57	CYP19A1	A	4	4
DMXL2	23312	broad.mit.edu	36	15	49560414	49560414	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49560414C>T	uc002abf.1	-	c.6181G>A	c.(6181-6183)GGT>AGT	p.G2061S	DMXL2_uc002abd.1_Missense_Mutation_p.G131S|DMXL2_uc002abe.1_Missense_Mutation_p.G1194S|DMXL2_uc010bfa.1_Missense_Mutation_p.G1425S	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2061						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6														0.256281	133.53184	144.249955	51	148	CC		KEEP	---	---	---	---	capture		all cancers(107;0.00494)	Missense_Mutation	SNP	49560414	49560414	4777	15	C	T	T	24	24	DMXL2	T	2	2
DMXL2	23312	broad.mit.edu	36	15	49578224	49578224	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49578224T>G	uc002abf.1	-	c.4489A>C	c.(4489-4491)AAT>CAT	p.N1497H	DMXL2_uc002abe.1_Missense_Mutation_p.N630H|DMXL2_uc010bfa.1_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1497						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6														0.394118	215.918044	217.606311	67	103	TT		KEEP	---	---	---	---	capture		all cancers(107;0.00494)	Missense_Mutation	SNP	49578224	49578224	4777	15	T	G	G	64	64	DMXL2	G	4	4
DMXL2	23312	broad.mit.edu	36	15	49578523	49578523	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49578523C>T	uc002abf.1	-	c.4190G>A	c.(4189-4191)CGA>CAA	p.R1397Q	DMXL2_uc002abe.1_Missense_Mutation_p.R530Q|DMXL2_uc010bfa.1_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1397						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6														0.444759	447.918944	448.858457	157	196	CC		KEEP	---	---	---	---	capture		all cancers(107;0.00494)	Missense_Mutation	SNP	49578523	49578523	4777	15	C	T	T	31	31	DMXL2	T	1	1
DMXL2	23312	broad.mit.edu	36	15	49579027	49579027	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49579027C>A	uc002abf.1	-	c.3686G>T	c.(3685-3687)AGA>ATA	p.R1229I	DMXL2_uc002abe.1_Missense_Mutation_p.R362I|DMXL2_uc010bfa.1_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1229						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6														0.42	167.882118	168.723547	63	87	CC		KEEP	---	---	---	---	capture		all cancers(107;0.00494)	Missense_Mutation	SNP	49579027	49579027	4777	15	C	A	A	32	32	DMXL2	A	3	3
DMXL2	23312	broad.mit.edu	36	15	49579289	49579289	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49579289C>T	uc002abf.1	-	c.3424G>A	c.(3424-3426)GAC>AAC	p.D1142N	DMXL2_uc002abe.1_Missense_Mutation_p.D275N|DMXL2_uc010bfa.1_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1142						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6														0.42	115.226374	115.784498	42	58	CC		KEEP	---	---	---	---	capture		all cancers(107;0.00494)	Missense_Mutation	SNP	49579289	49579289	4777	15	C	T	T	31	31	DMXL2	T	1	1
DMXL2	23312	broad.mit.edu	36	15	49617896	49617896	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49617896C>T	uc002abf.1	-	c.1151G>A	c.(1150-1152)GGA>GAA	p.G384E	DMXL2_uc002abe.1_5'Flank|DMXL2_uc010bfa.1_Missense_Mutation_p.G384E	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	384						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6														0.453608	125.659809	125.844717	44	53	CC		KEEP	---	---	---	---	capture		all cancers(107;0.00494)	Missense_Mutation	SNP	49617896	49617896	4777	15	C	T	T	30	30	DMXL2	T	2	2
TMOD3	29766	broad.mit.edu	36	15	49942401	49942401	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49942401G>T	uc002abm.1	+	c.28G>T	c.(28-30)GAA>TAA	p.E10*		NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	10						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1						Colon(122;1837 2251 18387 22826)								0.37037	104.362474	105.960691	40	68	GG		KEEP	---	---	---	---	capture		all cancers(107;0.00194)	Nonsense_Mutation	SNP	49942401	49942401	16775	15	G	T	T	33	33	TMOD3	T	5	3
LEO1	123169	broad.mit.edu	36	15	50041953	50041953	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50041953C>T	uc002abo.1	-	c.844G>A	c.(844-846)GAA>AAA	p.E282K	LEO1_uc010bfd.1_Missense_Mutation_p.E282K	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	282	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0						Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)								0.362069	53.353782	54.326917	21	37	CC		KEEP	---	---	---	---	capture		all cancers(107;0.00264)	Missense_Mutation	SNP	50041953	50041953	9050	15	C	T	T	29	29	LEO1	T	2	2
LEO1	123169	broad.mit.edu	36	15	50045843	50045843	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50045843C>A	uc002abo.1	-	c.209G>T	c.(208-210)GGA>GTA	p.G70V	LEO1_uc010bfd.1_Missense_Mutation_p.G70V	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	70	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0						Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)								0.33427	293.075696	301.748983	119	237	CC		KEEP	---	---	---	---	capture		all cancers(107;0.00264)	Missense_Mutation	SNP	50045843	50045843	9050	15	C	A	A	30	30	LEO1	A	3	3
MAPK6	5597	broad.mit.edu	36	15	50140850	50140850	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50140850G>A	uc002abp.1	+	c.928G>A	c.(928-930)GCA>ACA	p.A310T		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	310	Protein kinase.				cell cycle|protein phosphorylation		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4										309				0.371257	170.899827	173.334028	62	105	GG		KEEP	---	---	---	---	capture		all cancers(107;0.0028)	Missense_Mutation	SNP	50140850	50140850	9664	15	G	A	A	34	34	MAPK6	A	2	2
MAPK6	5597	broad.mit.edu	36	15	50143910	50143910	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50143910C>A	uc002abp.1	+	c.1587C>A	c.(1585-1587)TCC>TCA	p.S529S		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	529					cell cycle|protein phosphorylation		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4										309				0.292683	29.180852	30.76051	12	29	CC		KEEP	---	---	---	---	capture		all cancers(107;0.0028)	Silent	SNP	50143910	50143910	9664	15	C	A	A	24	24	MAPK6	A	3	3
BCL2L10	10017	broad.mit.edu	36	15	50189390	50189390	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50189390G>T	uc002abq.1	-	c.562C>A	c.(562-564)CTG>ATG	p.L188M		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	178	Helical; (Potential).				activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding				0														0.441964	262.060009	262.722182	99	125	GG		KEEP	---	---	---	---	capture		all cancers(107;0.0148)	Missense_Mutation	SNP	50189390	50189390	1389	15	G	T	T	33	33	BCL2L10	T	3	3
MYO5C	55930	broad.mit.edu	36	15	50319330	50319330	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50319330G>A	uc010bff.1	-	c.2595C>T	c.(2593-2595)TAC>TAT	p.Y865Y		NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	865	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(1)	13														0.306818	64.588827	67.519274	27	61	GG		KEEP	---	---	---	---	capture		all cancers(107;0.0137)	Silent	SNP	50319330	50319330	10475	15	G	A	A	40	40	MYO5C	A	1	1
MYO5C	55930	broad.mit.edu	36	15	50332945	50332945	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50332945T>C	uc010bff.1	-	c.1397A>G	c.(1396-1398)CAT>CGT	p.H466R		NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	466	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(1)	13														0.373333	77.577748	78.63545	28	47	TT		KEEP	---	---	---	---	capture		all cancers(107;0.0137)	Missense_Mutation	SNP	50332945	50332945	10475	15	T	C	C	51	51	MYO5C	C	4	4
MYO5C	55930	broad.mit.edu	36	15	50355075	50355075	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50355075G>A	uc010bff.1	-	c.582C>T	c.(580-582)GTC>GTT	p.V194V		NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	194	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(1)	13														0.356164	134.925984	137.600427	52	94	GG		KEEP	---	---	---	---	capture		all cancers(107;0.0137)	Silent	SNP	50355075	50355075	10475	15	G	A	A	41	41	MYO5C	A	2	2
MYO5A	4644	broad.mit.edu	36	15	50451834	50451834	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50451834C>T	uc002aby.1	-	c.2596G>A	c.(2596-2598)GCA>ACA	p.A866T	MYO5A_uc002abx.2_Missense_Mutation_p.A866T	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	866	IQ 5.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4														0.392857	64.635937	65.199392	22	34	CC		KEEP	---	---	---	---	capture		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	Missense_Mutation	SNP	50451834	50451834	10473	15	C	T	T	28	28	MYO5A	T	2	2
KIAA1370	56204	broad.mit.edu	36	15	50679656	50679656	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50679656G>T	uc002acg.2	-	c.2609C>A	c.(2608-2610)GCT>GAT	p.A870D	KIAA1370_uc002ach.2_Non-coding_Transcript|KIAA1370_uc010bfg.1_Missense_Mutation_p.A782D	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	870											0														0.467532	101.532902	101.598711	36	41	GG		KEEP	---	---	---	---	capture		all cancers(107;0.0803)	Missense_Mutation	SNP	50679656	50679656	8535	15	G	T	T	34	34	KIAA1370	T	3	3
KIAA1370	56204	broad.mit.edu	36	15	50689067	50689067	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50689067G>A	uc002acg.2	-	c.1336C>T	c.(1336-1338)CGA>TGA	p.R446*	KIAA1370_uc002ach.2_Non-coding_Transcript|KIAA1370_uc010bfg.1_Nonsense_Mutation_p.R358*	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	446											0														0.384615	54.587577	55.194399	20	32	GG		KEEP	---	---	---	---	capture		all cancers(107;0.0803)	Nonsense_Mutation	SNP	50689067	50689067	8535	15	G	A	A	37	37	KIAA1370	A	5	1
WDR72	256764	broad.mit.edu	36	15	51785495	51785495	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:51785495G>T	uc002acj.2	-	c.1023C>A	c.(1021-1023)TTC>TTA	p.F341L	WDR72_uc010bfi.1_Missense_Mutation_p.F341L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	341	WD 4.									lung(1)	1														0.315789	57.96423	60.262914	24	52	GG		KEEP	---	---	---	---	capture		all cancers(107;0.0511)	Missense_Mutation	SNP	51785495	51785495	17895	15	G	T	T	33	33	WDR72	T	3	3
UNC13C	440279	broad.mit.edu	36	15	52093364	52093364	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:52093364A>G	uc002ack.1	+	c.972A>G	c.(970-972)TTA>TTG	p.L324L		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	324					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7										2691				0.297297	103.342415	107.413687	33	78	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	Silent	SNP	52093364	52093364	17544	15	A	G	G	13	13	UNC13C	G	4	4
DYX1C1	161582	broad.mit.edu	36	15	53529747	53529747	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:53529747C>A	uc002adc.1	-	c.748G>T	c.(748-750)GCT>TCT	p.A250S	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc002adb.1_Missense_Mutation_p.A250S|DYX1C1_uc002add.1_Missense_Mutation_p.A250S	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	250					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding				0														0.284314	73.327762	77.591001	29	73	CC		KEEP	---	---	---	---	capture		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	Missense_Mutation	SNP	53529747	53529747	5048	15	C	A	A	28	28	DYX1C1	A	3	3
PRTG	283659	broad.mit.edu	36	15	53718138	53718138	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:53718138G>T	uc002adg.1	-	c.2353C>A	c.(2353-2355)CTA>ATA	p.L785I		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin	785	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)	2														0.363636	82.967937	84.410828	32	56	GG		KEEP	---	---	---	---	capture		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	Missense_Mutation	SNP	53718138	53718138	13089	15	G	T	T	33	33	PRTG	T	3	3
NEDD4	4734	broad.mit.edu	36	15	53949146	53949146	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:53949146G>T	uc002adj.1	-	c.1687C>A	c.(1687-1689)CTG>ATG	p.L563M	NEDD4_uc002adl.1_Missense_Mutation_p.L144M|NEDD4_uc002adi.1_Intron|NEDD4_uc010bfm.1_Missense_Mutation_p.L546M|NEDD4_uc002adk.1_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	563					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3														0.3125	11.767497	12.269232	5	11	GG		KEEP	---	---	---	---	capture		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	Missense_Mutation	SNP	53949146	53949146	10709	15	G	T	T	33	33	NEDD4	T	3	3
MNS1	55329	broad.mit.edu	36	15	54522988	54522988	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:54522988C>A	uc002adr.1	-	c.943G>T	c.(943-945)GAT>TAT	p.D315Y	MNS1_uc010bfo.1_Missense_Mutation_p.D183Y|TEX9_uc002adp.1_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	315	Potential.|Glu-rich.				meiosis					ovary(1)	1														0.319149	73.808765	76.545387	30	64	CC		KEEP	---	---	---	---	capture		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	Missense_Mutation	SNP	54522988	54522988	10068	15	C	A	A	32	32	MNS1	A	3	3
ZNF280D	54816	broad.mit.edu	36	15	54761955	54761955	+	Missense_Mutation	SNP	C	A	A	rs35393354	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:54761955C>A	uc002adu.1	-	c.793G>T	c.(793-795)GAC>TAC	p.D265Y	ZNF280D_uc002adv.1_Missense_Mutation_p.D252Y|ZNF280D_uc010bfq.1_Missense_Mutation_p.D265Y|ZNF280D_uc002adw.1_Missense_Mutation_p.D293Y|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.1_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2														0.4375	37.142085	37.251495	14	18	CC		KEEP	---	---	---	---	capture		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	Missense_Mutation	SNP	54761955	54761955	18409	15	C	A	A	32	32	ZNF280D	A	3	3
ZNF280D	54816	broad.mit.edu	36	15	54768934	54768934	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:54768934T>C	uc002adu.1	-	c.526A>G	c.(526-528)AAA>GAA	p.K176E	ZNF280D_uc002adv.1_Missense_Mutation_p.K163E|ZNF280D_uc010bfq.1_Missense_Mutation_p.K176E|ZNF280D_uc002adw.1_Missense_Mutation_p.K204E|ZNF280D_uc010bfr.1_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2														0.3125	64.177892	66.180166	20	44	TT		KEEP	---	---	---	---	capture		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	Missense_Mutation	SNP	54768934	54768934	18409	15	T	C	C	64	64	ZNF280D	C	4	4
CGNL1	84952	broad.mit.edu	36	15	55518813	55518813	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:55518813C>T	uc002aeg.1	+	c.1324C>T	c.(1324-1326)CGC>TGC	p.R442C	CGNL1_uc010bfw.1_Missense_Mutation_p.R442C	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	442	Head.					myosin complex|tight junction	motor activity			ovary(4)|central_nervous_system(1)	5														0.477612	92.698433	92.7273	32	35	CC		KEEP	---	---	---	---	capture		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	Missense_Mutation	SNP	55518813	55518813	3437	15	C	T	T	23	23	CGNL1	T	1	1
CGNL1	84952	broad.mit.edu	36	15	55531733	55531733	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:55531733C>T	uc002aeg.1	+	c.2008C>T	c.(2008-2010)CAA>TAA	p.Q670*	CGNL1_uc010bfw.1_Nonsense_Mutation_p.Q670*	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	670	Potential.					myosin complex|tight junction	motor activity			ovary(4)|central_nervous_system(1)	5														0.297872	32.225665	33.946153	14	33	CC		KEEP	---	---	---	---	capture		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	Nonsense_Mutation	SNP	55531733	55531733	3437	15	C	T	T	25	25	CGNL1	T	5	2
ALDH1A2	8854	broad.mit.edu	36	15	56040747	56040747	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:56040747G>A	uc002aex.1	-	c.1289C>T	c.(1288-1290)ACG>ATG	p.T430M	ALDH1A2_uc002aey.1_Missense_Mutation_p.T392M|ALDH1A2_uc002aew.1_Missense_Mutation_p.T334M	NM_003888	NP_733798	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	430					negative regulation of cell proliferation|neural tube development|oxidation-reduction process|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)									0.516129	89.79517	89.809072	32	30	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Missense_Mutation	SNP	56040747	56040747	494	15	G	A	A	40	40	ALDH1A2	A	1	1
ALDH1A2	8854	broad.mit.edu	36	15	56043538	56043538	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:56043538G>A	uc002aex.1	-	c.923C>T	c.(922-924)GCC>GTC	p.A308V	ALDH1A2_uc002aey.1_Missense_Mutation_p.A270V|ALDH1A2_uc002aew.1_Missense_Mutation_p.A212V	NM_003888	NP_733798	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	308					negative regulation of cell proliferation|neural tube development|oxidation-reduction process|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)									0.363636	82.303307	83.731039	32	56	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Missense_Mutation	SNP	56043538	56043538	494	15	G	A	A	42	42	ALDH1A2	A	2	2
AQP9	366	broad.mit.edu	36	15	56263566	56263566	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:56263566C>A	uc002aez.2	+	c.828C>A	c.(826-828)GTC>GTA	p.V276V		NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	276	Cytoplasmic (Potential).				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1														0.402516	169.553177	170.878245	64	95	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(80;0.16)	Silent	SNP	56263566	56263566	844	15	C	A	A	32	32	AQP9	A	3	3
LIPC	3990	broad.mit.edu	36	15	56617847	56617847	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:56617847G>T	uc010bga.1	+	c.112G>T	c.(112-114)GCT>TCT	p.A38S	LIPC_uc010bfz.1_Missense_Mutation_p.A38S|LIPC_uc002afa.1_Missense_Mutation_p.A38S|LIPC_uc010bgb.1_Intron	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	38					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|reverse cholesterol transport|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)												0.538961	237.412995	237.614638	83	71	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	Missense_Mutation	SNP	56617847	56617847	9147	15	G	T	T	34	34	LIPC	T	3	3
ADAM10	102	broad.mit.edu	36	15	56758749	56758749	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:56758749C>T	uc002afd.1	-	c.350G>A	c.(349-351)GGG>GAG	p.G117E	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.1_Missense_Mutation_p.G117E	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	117	Extracellular (Potential).				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(1)	1										515				0.25	35.32229	38.504388	14	42	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(80;0.202)	Missense_Mutation	SNP	56758749	56758749	235	15	C	T	T	22	22	ADAM10	T	2	2
SLTM	79811	broad.mit.edu	36	15	57011896	57011896	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:57011896T>C	uc002afp.1	-	c.201A>G	c.(199-201)GAA>GAG	p.E67E	SLTM_uc002afo.1_Silent_p.E67E|SLTM_uc002afq.1_5'UTR|SLTM_uc010bgd.1_Intron|SLTM_uc002afr.1_Silent_p.E67E	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	67					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.43617	277.02851	277.695004	82	106	TT		KEEP	---	---	---	---	capture			Silent	SNP	57011896	57011896	15252	15	T	C	C	52	52	SLTM	C	4	4
RNF111	54778	broad.mit.edu	36	15	57110408	57110408	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:57110408G>A	uc002afw.1	+	c.95G>A	c.(94-96)AGT>AAT	p.S32N	RNF111_uc002afs.1_Missense_Mutation_p.S32N|RNF111_uc002aft.1_Missense_Mutation_p.S32N|RNF111_uc002afu.1_Missense_Mutation_p.S32N|RNF111_uc002afv.1_Missense_Mutation_p.S32N	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	32					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						NSCLC(72;983 1365 10746 34387 47081)								0.42	118.728765	119.288012	42	58	GG		KEEP	---	---	---	---	capture		all cancers(107;0.194)	Missense_Mutation	SNP	57110408	57110408	13902	15	G	A	A	36	36	RNF111	A	2	2
MYO1E	4643	broad.mit.edu	36	15	57216918	57216918	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:57216918G>A	uc002aga.1	-	c.3280C>T	c.(3280-3282)CGA>TGA	p.R1094*		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	1094	SH3.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3														0.438596	136.132699	136.506845	50	64	GG		KEEP	---	---	---	---	capture		all cancers(107;0.207)	Nonsense_Mutation	SNP	57216918	57216918	10467	15	G	A	A	40	40	MYO1E	A	5	1
GCNT3	9245	broad.mit.edu	36	15	57698384	57698384	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:57698384C>A	uc002agd.1	+	c.655C>A	c.(655-657)CCG>ACG	p.P219T	GCNT3_uc002age.1_Missense_Mutation_p.P219T|GCNT3_uc002agf.1_Missense_Mutation_p.P219T|GCNT3_uc010bgf.1_Missense_Mutation_p.P219T	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	219	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														0.384977	226.595126	229.066792	82	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57698384	57698384	6568	15	C	A	A	26	26	GCNT3	A	3	3
FOXB1	27023	broad.mit.edu	36	15	58084824	58084824	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:58084824G>A	uc002agj.1	+	c.370G>A	c.(370-372)GAC>AAC	p.D124N	FOXB1_uc010bgh.1_Intron|FOXB1_uc010bgi.1_Missense_Mutation_p.D124N	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	124					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2														0.647059	32.227217	32.550736	11	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58084824	58084824	6234	15	G	A	A	37	37	FOXB1	A	1	1
FOXB1	27023	broad.mit.edu	36	15	58084994	58084994	+	Nonsense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:58084994C>G	uc002agj.1	+	c.540C>G	c.(538-540)TAC>TAG	p.Y180*	FOXB1_uc010bgh.1_Intron|FOXB1_uc010bgi.1_Nonsense_Mutation_p.Y180*	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	180					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2														0.45	28.972497	29.016077	9	11	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	58084994	58084994	6234	15	C	G	G	17	17	FOXB1	G	5	3
ANXA2	302	broad.mit.edu	36	15	58435478	58435478	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:58435478C>T	uc002agm.1	-	c.514G>A	c.(514-516)GAT>AAT	p.D172N	ANXA2_uc002agk.1_Missense_Mutation_p.D154N|ANXA2_uc002agl.1_Missense_Mutation_p.D154N|ANXA2_uc002agn.1_Missense_Mutation_p.D154N|ANXA2_uc010bgj.1_Missense_Mutation_p.D154N	NM_001002858	NP_001002858	P07355	ANXA2_HUMAN	annexin A2 isoform 1	154	Annexin 2.				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)									0.415584	84.077134	84.558212	32	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58435478	58435478	726	15	C	T	T	29	29	ANXA2	T	2	2
NARG2	79664	broad.mit.edu	36	15	58515711	58515711	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:58515711G>A	uc002agp.1	-	c.2433C>T	c.(2431-2433)ATC>ATT	p.I811I	NARG2_uc002ago.1_Silent_p.I674I	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	811						nucleus				ovary(1)|lung(1)	2														0.5	41.748384	41.748384	14	14	GG		KEEP	---	---	---	---	capture			Silent	SNP	58515711	58515711	10565	15	G	A	A	37	37	NARG2	A	1	1
RORA	6095	broad.mit.edu	36	15	58590866	58590866	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:58590866T>C	uc002agv.1	-	c.770A>G	c.(769-771)GAC>GGC	p.D257G	RORA_uc002agx.1_Missense_Mutation_p.D224G|RORA_uc002agu.1_Missense_Mutation_p.D169G|RORA_uc002agw.1_Missense_Mutation_p.D249G	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	257	Hinge.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.408	159.472601	160.403069	51	74	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58590866	58590866	14007	15	T	C	C	58	58	RORA	C	4	4
VPS13C	54832	broad.mit.edu	36	15	59952793	59952793	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:59952793G>A	uc002agz.1	-	c.10522C>T	c.(10522-10524)CGA>TGA	p.R3508*	VPS13C_uc002aha.1_Nonsense_Mutation_p.R3465*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.R3508*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.R3465*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3508					protein localization					ovary(2)	2														0.461847	318.346394	318.666354	115	134	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	59952793	59952793	17758	15	G	A	A	37	37	VPS13C	A	5	1
VPS13C	54832	broad.mit.edu	36	15	60044265	60044265	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:60044265C>A	uc002agz.1	-	c.3139G>T	c.(3139-3141)GAT>TAT	p.D1047Y	VPS13C_uc002aha.1_Missense_Mutation_p.D1004Y|VPS13C_uc002ahb.1_Missense_Mutation_p.D1047Y|VPS13C_uc002ahc.1_Missense_Mutation_p.D1004Y	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1047					protein localization					ovary(2)	2														0.356589	117.899626	120.242706	46	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60044265	60044265	17758	15	C	A	A	29	29	VPS13C	A	3	3
VPS13C	54832	broad.mit.edu	36	15	60100015	60100015	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:60100015C>T	uc002agz.1	-	c.639G>A	c.(637-639)AAG>AAA	p.K213K	VPS13C_uc002aha.1_Silent_p.K170K|VPS13C_uc002ahb.1_Silent_p.K213K|VPS13C_uc002ahc.1_Silent_p.K170K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	213					protein localization					ovary(2)	2														0.447368	102.738187	102.92194	34	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	60100015	60100015	17758	15	C	T	T	28	28	VPS13C	T	2	2
VPS13C	54832	broad.mit.edu	36	15	60113010	60113010	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:60113010C>A	uc002agz.1	-	c.307G>T	c.(307-309)GAA>TAA	p.E103*	VPS13C_uc002aha.1_Nonsense_Mutation_p.E103*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E103*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E103*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	103					protein localization					ovary(2)	2														0.380952	42.686282	43.209632	16	26	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	60113010	60113010	17758	15	C	A	A	32	32	VPS13C	A	5	3
TLN2	83660	broad.mit.edu	36	15	60729587	60729587	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:60729587G>A	uc002alb.2	+	c.149G>A	c.(148-150)GGA>GAA	p.G50E		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	50					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.433333	188.108216	188.676703	65	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60729587	60729587	16478	15	G	A	A	41	41	TLN2	A	2	2
TLN2	83660	broad.mit.edu	36	15	60845862	60845862	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:60845862C>T	uc002alb.2	+	c.5145C>T	c.(5143-5145)ATC>ATT	p.I1715I	TLN2_uc002alc.2_Silent_p.I108I|TLN2_uc002ald.2_Silent_p.I108I	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1715					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.375	71.201906	72.191369	27	45	CC		KEEP	---	---	---	---	capture			Silent	SNP	60845862	60845862	16478	15	C	T	T	31	31	TLN2	T	1	1
TPM1	7168	broad.mit.edu	36	15	61138837	61138837	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:61138837C>T	uc002alm.1	+	c.523C>T	c.(523-525)CGA>TGA	p.R175*	TPM1_uc002alg.1_Nonsense_Mutation_p.R133*|TPM1_uc002alh.1_Nonsense_Mutation_p.R133*|TPM1_uc010bgn.1_Intron|TPM1_uc002ali.1_Nonsense_Mutation_p.R133*|TPM1_uc002alj.1_Nonsense_Mutation_p.R133*|TPM1_uc002alk.1_Nonsense_Mutation_p.R133*|TPM1_uc002all.1_Nonsense_Mutation_p.R133*|TPM1_uc002alo.2_Nonsense_Mutation_p.R133*|TPM1_uc002alp.1_Nonsense_Mutation_p.R133*|TPM1_uc002alr.1_Nonsense_Mutation_p.R97*|TPM1_uc002als.1_Nonsense_Mutation_p.R97*|TPM1_uc002alt.1_Nonsense_Mutation_p.R97*|TPM1_uc010bgp.1_Nonsense_Mutation_p.R7*	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	tropomyosin 1 alpha chain isoform 6	133	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														0.390476	112.449568	113.553135	41	64	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	61138837	61138837	16949	15	C	T	T	31	31	TPM1	T	5	1
CA12	771	broad.mit.edu	36	15	61425925	61425925	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:61425925G>A	uc002amc.1	-	c.143C>T	c.(142-144)CCG>CTG	p.P48L	CA12_uc002amd.1_Missense_Mutation_p.P48L|CA12_uc002ame.1_Intron	NM_001218	NP_001209	O43570	CAH12_HUMAN	carbonic anhydrase XII isoform 1 precursor	48	Extracellular (Potential).				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			ovary(1)	1					Acetazolamide(DB00819)									0.426471	171.624673	172.266141	58	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61425925	61425925	2629	15	G	A	A	39	39	CA12	A	1	1
HERC1	8925	broad.mit.edu	36	15	61705351	61705351	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:61705351C>T	uc002amp.1	-	c.13161G>A	c.(13159-13161)GGG>GGA	p.G4387G		NM_003922	NP_003913	Q15751	HERC1_HUMAN	guanine nucleotide exchange factor p532	4387					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(5)|central_nervous_system(2)|lung(1)|breast(1)	9														0.325	36.260694	37.347981	13	27	CC		KEEP	---	---	---	---	capture			Silent	SNP	61705351	61705351	7340	15	C	T	T	22	22	HERC1	T	2	2
HERC1	8925	broad.mit.edu	36	15	61804747	61804747	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:61804747T>C	uc002amp.1	-	c.3365A>G	c.(3364-3366)GAT>GGT	p.D1122G		NM_003922	NP_003913	Q15751	HERC1_HUMAN	guanine nucleotide exchange factor p532	1122					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(5)|central_nervous_system(2)|lung(1)|breast(1)	9														0.493151	247.89165	247.897609	72	74	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61804747	61804747	7340	15	T	C	C	50	50	HERC1	C	4	4
SNX1	6642	broad.mit.edu	36	15	62191826	62191826	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:62191826G>A	uc002amv.1	+	c.161G>A	c.(160-162)AGT>AAT	p.S54N	SNX1_uc010bgv.1_5'UTR|SNX1_uc002amw.1_Missense_Mutation_p.S54N|SNX1_uc002amx.1_Missense_Mutation_p.S54N|SNX1_uc002amy.1_5'UTR|SNX1_uc010bgw.1_5'UTR	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	54					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0														0.376344	102.69955	103.948727	35	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62191826	62191826	15380	15	G	A	A	36	36	SNX1	A	2	2
SNX1	6642	broad.mit.edu	36	15	62205438	62205438	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:62205438C>T	uc002amv.1	+	c.618C>T	c.(616-618)TTC>TTT	p.F206F	SNX1_uc010bgv.1_5'UTR|SNX1_uc002amw.1_Silent_p.F206F|SNX1_uc002amx.1_Silent_p.F141F|SNX1_uc002amy.1_Silent_p.F135F|SNX1_uc010bgw.1_Silent_p.F108F	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	206	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0														0.37234	91.199849	92.545537	35	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	62205438	62205438	15380	15	C	T	T	29	29	SNX1	T	2	2
CSNK1G1	53944	broad.mit.edu	36	15	62282382	62282382	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:62282382G>A	uc002anh.1	-	c.1059C>T	c.(1057-1059)AGC>AGT	p.S353S	CSNK1G1_uc002ane.1_Non-coding_Transcript|CSNK1G1_uc002anf.1_Silent_p.S353S|CSNK1G1_uc002ang.1_Silent_p.S353S|CSNK1G1_uc002anj.2_Silent_p.S335S	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	353					protein phosphorylation|Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0										222				0.476923	85.30983	85.340375	31	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	62282382	62282382	4095	15	G	A	A	42	42	CSNK1G1	A	2	2
CSNK1G1	53944	broad.mit.edu	36	15	62283809	62283809	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:62283809G>A	uc002anh.1	-	c.883C>T	c.(883-885)CGA>TGA	p.R295*	CSNK1G1_uc002ane.1_Non-coding_Transcript|CSNK1G1_uc002anf.1_Nonsense_Mutation_p.R295*|CSNK1G1_uc002ang.1_Nonsense_Mutation_p.R295*|CSNK1G1_uc002anj.2_Nonsense_Mutation_p.R277*	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	295	Protein kinase.				protein phosphorylation|Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0										222				0.373134	126.101151	128.000149	50	84	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	62283809	62283809	4095	15	G	A	A	38	38	CSNK1G1	A	5	1
OSTBETA	123264	broad.mit.edu	36	15	63130968	63130968	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63130968C>T	uc002aog.1	+	c.160C>T	c.(160-162)CTC>TTC	p.L54F	OSTBETA_uc002aoh.1_Missense_Mutation_p.L54F	NM_178859	NP_849190	Q86UW2	OSTB_HUMAN	organic solute transporter beta	54	Helical; (Potential).					integral to membrane|plasma membrane					0														0.245283	65.477084	71.761082	26	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63130968	63130968	11707	15	C	T	T	24	24	OSTBETA	T	2	2
CILP	8483	broad.mit.edu	36	15	63277788	63277788	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63277788C>T	uc002aon.2	-	c.1889G>A	c.(1888-1890)CGG>CAG	p.R630Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	630					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)	6														0.440909	277.652108	278.319015	97	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63277788	63277788	3563	15	C	T	T	23	23	CILP	T	1	1
PARP16	54956	broad.mit.edu	36	15	63340278	63340278	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63340278C>A	uc002aoq.1	-	c.831G>T	c.(829-831)AAG>AAT	p.K277N	PARP16_uc010bhh.1_Missense_Mutation_p.K226N|PARP16_uc002aoo.2_Missense_Mutation_p.K277N|PARP16_uc002aop.2_Missense_Mutation_p.K162N	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	277	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity				0						NSCLC(50;885 1163 13509 21242 41978)								0.400794	266.29952	268.474895	101	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63340278	63340278	11877	15	C	A	A	32	32	PARP16	A	3	3
IGDCC4	57722	broad.mit.edu	36	15	63481857	63481857	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63481857G>A	uc002aou.1	-	c.585C>T	c.(583-585)GGC>GGT	p.G195G		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	195	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2														0.375	6.720692	6.831205	3	5	GG		KEEP	---	---	---	---	capture			Silent	SNP	63481857	63481857	7870	15	G	A	A	38	38	IGDCC4	A	1	1
C15orf44	81556	broad.mit.edu	36	15	63684556	63684556	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63684556G>A	uc002apd.1	-	c.294C>T	c.(292-294)ATC>ATT	p.I98I	C15orf44_uc002ape.2_Silent_p.I98I|C15orf44_uc010bhl.1_Silent_p.I130I	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	98	VWFA.									ovary(1)	1														0.4	150.317503	151.499533	54	81	GG		KEEP	---	---	---	---	capture			Silent	SNP	63684556	63684556	1848	15	G	A	A	37	37	C15orf44	A	1	1
DENND4A	10260	broad.mit.edu	36	15	63743987	63743987	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63743987C>T	uc002api.1	-	c.5484G>A	c.(5482-5484)GAG>GAA	p.E1828E	DENND4A_uc002aph.1_Silent_p.E1785E	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|skin(1)	3														0.378788	72.156188	73.008056	25	41	CC		KEEP	---	---	---	---	capture			Silent	SNP	63743987	63743987	4612	15	C	T	T	32	32	DENND4A	T	2	2
DENND4A	10260	broad.mit.edu	36	15	63770886	63770886	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63770886G>T	uc002api.1	-	c.3097C>A	c.(3097-3099)CTC>ATC	p.L1033I	DENND4A_uc002aph.1_Missense_Mutation_p.L990I|DENND4A_uc002apj.2_Missense_Mutation_p.L990I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	990					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|skin(1)	3														0.391304	24.467957	24.706512	9	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63770886	63770886	4612	15	G	T	T	34	34	DENND4A	T	3	3
DENND4A	10260	broad.mit.edu	36	15	63818219	63818219	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63818219G>A	uc002api.1	-	c.680C>T	c.(679-681)CCG>CTG	p.P227L	DENND4A_uc002aph.1_Missense_Mutation_p.P227L|DENND4A_uc002apj.2_Missense_Mutation_p.P227L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	227	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|skin(1)	3														0.466667	89.093834	89.15197	28	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63818219	63818219	4612	15	G	A	A	39	39	DENND4A	A	1	1
RAB11A	8766	broad.mit.edu	36	15	63948988	63948988	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63948988G>A	uc002apk.1	+	c.11G>A	c.(10-12)CGC>CAC	p.R4H		NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A	4					cell cycle|cytokinesis|plasma membrane to endosome transport|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0														0.340426	120.6551	123.829374	48	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63948988	63948988	13350	15	G	A	A	38	38	RAB11A	A	1	1
MEGF11	84465	broad.mit.edu	36	15	63978193	63978193	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63978193C>T	uc002apm.2	-	c.2901G>A	c.(2899-2901)TCG>TCA	p.S967S	MEGF11_uc010bhn.1_Silent_p.S892S|MEGF11_uc002apl.2_Silent_p.S892S|MEGF11_uc002apn.1_Silent_p.S967S	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	967						basolateral plasma membrane|integral to membrane				pancreas(1)	1														0.404255	154.64263	155.773205	57	84	CC		KEEP	---	---	---	---	capture			Silent	SNP	63978193	63978193	9850	15	C	T	T	27	27	MEGF11	T	1	1
SMAD3	4088	broad.mit.edu	36	15	65145720	65145720	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:65145720G>T	uc002aqj.1	+	c.174G>T	c.(172-174)CAG>CAT	p.Q58H		NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	58	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|primary microRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|promoter binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|pancreas(1)	3										476				0.413793	29.888463	30.078031	12	17	GG		KEEP	---	---	---	---	capture		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	Missense_Mutation	SNP	65145720	65145720	15257	15	G	T	T	33	33	SMAD3	T	3	3
IQCH	64799	broad.mit.edu	36	15	65451858	65451858	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:65451858C>T	uc002aqo.1	+	c.1109C>T	c.(1108-1110)TCG>TTG	p.S370L	IQCH_uc002aqn.1_Missense_Mutation_p.S197L|IQCH_uc002aqq.1_Missense_Mutation_p.S118L|IQCH_uc002aqp.1_Missense_Mutation_p.S122L	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	370	IQ.									ovary(1)	1														0.544304	125.282741	125.428044	43	36	CC		KEEP	---	---	---	---	capture		Colorectal(3;0.0856)	Missense_Mutation	SNP	65451858	65451858	8114	15	C	T	T	31	31	IQCH	T	1	1
MAP2K5	5607	broad.mit.edu	36	15	65710285	65710285	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:65710285A>G	uc002aqu.1	+	c.551A>G	c.(550-552)TAT>TGT	p.Y184C	MAP2K5_uc002aqt.1_Missense_Mutation_p.Y184C|MAP2K5_uc002aqv.1_Missense_Mutation_p.Y184C|MAP2K5_uc002aqw.1_Missense_Mutation_p.Y24C	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	184	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)	2										724				0.383562	89.58812	90.45388	28	45	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65710285	65710285	9623	15	A	G	G	16	16	MAP2K5	G	4	4
PIAS1	8554	broad.mit.edu	36	15	66253136	66253136	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:66253136C>T	uc002aqz.1	+	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W	PIAS1_uc002ara.1_5'Flank	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	341	SP-RING-type.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1														0.355556	42.586549	43.414078	16	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66253136	66253136	12299	15	C	T	T	27	27	PIAS1	T	1	1
ITGA11	22801	broad.mit.edu	36	15	66390464	66390464	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:66390464C>T	uc010bib.1	-	c.3099G>A	c.(3097-3099)ACG>ACA	p.T1033T	ITGA11_uc002ari.1_Silent_p.T1032T	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	1032	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)									0.190476	7.787778	9.668876	4	17	CC		KEEP	---	---	---	---	capture			Silent	SNP	66390464	66390464	8178	15	C	T	T	19	19	ITGA11	T	1	1
ITGA11	22801	broad.mit.edu	36	15	66437878	66437878	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:66437878T>G	uc010bib.1	-	c.572A>C	c.(571-573)AAG>ACG	p.K191T	ITGA11_uc002ari.1_Missense_Mutation_p.K191T	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	191	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)									0.588235	30.651607	30.76697	10	7	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66437878	66437878	8178	15	T	G	G	56	56	ITGA11	G	4	4
ANP32A	8125	broad.mit.edu	36	15	66863867	66863867	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:66863867C>A	uc002arl.1	-	c.449G>T	c.(448-450)CGG>CTG	p.R150L		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	150	Necessary for tumor-suppressive function.|LRRCT.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding				0														0.47619	85.341068	85.372418	30	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66863867	66863867	713	15	C	A	A	23	23	ANP32A	A	3	3
KIF23	9493	broad.mit.edu	36	15	67516027	67516027	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:67516027C>T	uc002asb.1	+	c.1467C>T	c.(1465-1467)AAC>AAT	p.N489N	KIF23_uc002asc.1_Silent_p.N489N|KIF23_uc010bii.1_Silent_p.N379N	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	489					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0														0.410526	104.103322	104.768181	39	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	67516027	67516027	8602	15	C	T	T	19	19	KIF23	T	1	1
UACA	55075	broad.mit.edu	36	15	68747318	68747318	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:68747318G>A	uc002asr.1	-	c.2759C>T	c.(2758-2760)GCT>GTT	p.A920V	UACA_uc002asq.1_Missense_Mutation_p.A907V|UACA_uc010bin.1_Missense_Mutation_p.A895V	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	920	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)	3														0.551282	122.620983	122.798293	43	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68747318	68747318	17381	15	G	A	A	34	34	UACA	A	2	2
UACA	55075	broad.mit.edu	36	15	68748309	68748309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:68748309G>A	uc002asr.1	-	c.1768C>T	c.(1768-1770)CGA>TGA	p.R590*	UACA_uc002asq.1_Nonsense_Mutation_p.R577*|UACA_uc010bin.1_Nonsense_Mutation_p.R565*	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	590	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)	3														0.388393	232.759008	235.207718	87	137	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	68748309	68748309	17381	15	G	A	A	38	38	UACA	A	5	1
LARP6	55323	broad.mit.edu	36	15	68912476	68912476	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:68912476C>A	uc002ass.1	-	c.445G>T	c.(445-447)GCA>TCA	p.A149S		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	acheron isoform 1	149	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0														0.329545	74.640351	76.909218	29	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68912476	68912476	8955	15	C	A	A	28	28	LARP6	A	3	3
LRRC49	54839	broad.mit.edu	36	15	68984090	68984090	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:68984090G>T	uc002asw.1	+	c.442G>T	c.(442-444)GAA>TAA	p.E148*	LRRC49_uc002asu.1_Nonsense_Mutation_p.E138*|LRRC49_uc002asx.1_Nonsense_Mutation_p.E104*|LRRC49_uc002asy.1_5'UTR|LRRC49_uc002asz.1_Nonsense_Mutation_p.E120*	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	148	LRR 2.					cytoplasm|microtubule				ovary(1)	1														0.352423	205.713026	210.081177	80	147	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	68984090	68984090	9381	15	G	T	T	33	33	LRRC49	T	5	3
THSD4	79875	broad.mit.edu	36	15	69740057	69740057	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:69740057C>T	uc002atb.1	+	c.1287C>T	c.(1285-1287)CGC>CGT	p.R429R	THSD4_uc002atd.1_Silent_p.R103R|THSD4_uc002ate.1_Silent_p.R69R	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	429						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2														0.420168	128.119259	128.78219	50	69	CC		KEEP	---	---	---	---	capture			Silent	SNP	69740057	69740057	16406	15	C	T	T	27	27	THSD4	T	1	1
THSD4	79875	broad.mit.edu	36	15	69827887	69827887	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:69827887A>G	uc002atb.1	+	c.2315A>G	c.(2314-2316)GAC>GGC	p.D772G	THSD4_uc002ate.1_Missense_Mutation_p.D412G	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	772	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2														0.392405	100.219241	101.016148	31	48	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69827887	69827887	16406	15	A	G	G	10	10	THSD4	G	4	4
MYO9A	4649	broad.mit.edu	36	15	69906327	69906327	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:69906327G>A	uc002atl.2	-	c.7295C>T	c.(7294-7296)TCG>TTG	p.S2432L	MYO9A_uc002atj.1_Missense_Mutation_p.S363L|MYO9A_uc002atk.1_Missense_Mutation_p.S1227L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2432	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3														0.420168	137.92357	138.586373	50	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69906327	69906327	10479	15	G	A	A	37	37	MYO9A	A	1	1
MYO9A	4649	broad.mit.edu	36	15	69977771	69977771	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:69977771G>A	uc002atl.2	-	c.4127C>T	c.(4126-4128)GCC>GTC	p.A1376V	MYO9A_uc002atn.1_Missense_Mutation_p.A1357V|MYO9A_uc010biq.1_Missense_Mutation_p.A996V|MYO9A_uc002atk.1_Missense_Mutation_p.A100V|MYO9A_uc002atm.1_Missense_Mutation_p.A100V	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1376	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3														0.362069	169.988551	172.896734	63	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69977771	69977771	10479	15	G	A	A	42	42	MYO9A	A	2	2
MYO9A	4649	broad.mit.edu	36	15	69978053	69978053	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:69978053T>A	uc002atl.2	-	c.3845A>T	c.(3844-3846)CAA>CTA	p.Q1282L	MYO9A_uc002atn.1_Missense_Mutation_p.Q1263L|MYO9A_uc010biq.1_Missense_Mutation_p.Q902L|MYO9A_uc002atk.1_Missense_Mutation_p.Q6L|MYO9A_uc002atm.1_Missense_Mutation_p.Q6L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1282	Potential.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3														0.337931	130.027169	133.39684	49	96	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69978053	69978053	10479	15	T	A	A	63	63	MYO9A	A	4	4
MYO9A	4649	broad.mit.edu	36	15	69980596	69980596	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:69980596A>G	uc002atl.2	-	c.3140T>C	c.(3139-3141)GTT>GCT	p.V1047A	MYO9A_uc002atn.1_Missense_Mutation_p.V1028A|MYO9A_uc010biq.1_Missense_Mutation_p.V667A|MYO9A_uc002atk.1_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1047	IQ 2.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3														0.333333	52.686184	53.865922	16	32	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69980596	69980596	10479	15	A	G	G	2	2	MYO9A	G	4	4
MYO9A	4649	broad.mit.edu	36	15	70125149	70125149	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:70125149C>A	uc002atl.2	-	c.810G>T	c.(808-810)CAG>CAT	p.Q270H	MYO9A_uc002atn.1_Missense_Mutation_p.Q270H|MYO9A_uc010biq.1_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.Q270H	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	270	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3														0.322222	71.236058	73.765953	29	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70125149	70125149	10479	15	C	A	A	32	32	MYO9A	A	3	3
MYO9A	4649	broad.mit.edu	36	15	70125610	70125610	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:70125610G>T	uc002atl.2	-	c.349C>A	c.(349-351)CAT>AAT	p.H117N	MYO9A_uc002atn.1_Missense_Mutation_p.H117N|MYO9A_uc010biq.1_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.H117N	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	117					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3														0.367742	151.522735	153.910569	57	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70125610	70125610	10479	15	G	T	T	47	47	MYO9A	T	3	3
PARP6	56965	broad.mit.edu	36	15	70340987	70340987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:70340987G>A	uc002auc.1	-	c.511C>T	c.(511-513)CGA>TGA	p.R171*	PARP6_uc002aua.1_Nonsense_Mutation_p.R36*|PARP6_uc002aub.1_Non-coding_Transcript|PARP6_uc002aud.2_Non-coding_Transcript|PARP6_uc002auf.1_Nonsense_Mutation_p.R171*	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	171							NAD+ ADP-ribosyltransferase activity				0														0.456973	446.843966	447.381506	154	183	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	70340987	70340987	11881	15	G	A	A	39	39	PARP6	A	5	1
CELF6	60677	broad.mit.edu	36	15	70368001	70368001	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:70368001G>A	uc002auh.1	-	c.1106C>T	c.(1105-1107)TCG>TTG	p.S369L	CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc010biw.1_Missense_Mutation_p.S256L|CELF6_uc002aui.1_Missense_Mutation_p.S475L|CELF6_uc002auj.1_Missense_Mutation_p.S256L|CELF6_uc002auk.2_Intron	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	369					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1														0.276316	50.441826	53.865674	21	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70368001	70368001	3353	15	G	A	A	37	37	CELF6	A	1	1
ARIH1	25820	broad.mit.edu	36	15	70660169	70660169	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:70660169G>A	uc002aut.2	+	c.1259G>A	c.(1258-1260)CGC>CAC	p.R420H		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	ariadne ubiquitin-conjugating enzyme E2 binding	420					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	protein binding|small conjugating protein ligase activity|zinc ion binding				0														0.395062	85.525366	86.291329	32	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70660169	70660169	938	15	G	A	A	38	38	ARIH1	A	1	1
NEO1	4756	broad.mit.edu	36	15	71332797	71332797	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:71332797C>T	uc002avm.2	+	c.1898C>T	c.(1897-1899)CCC>CTC	p.P633L	NEO1_uc002avn.2_Missense_Mutation_p.P298L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1	633	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1														0.407407	67.039614	67.44418	22	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71332797	71332797	10735	15	C	T	T	22	22	NEO1	T	2	2
NEO1	4756	broad.mit.edu	36	15	71377757	71377757	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:71377757C>T	uc002avm.2	+	c.3917C>T	c.(3916-3918)ACC>ATC	p.T1306I	NEO1_uc002avn.2_Missense_Mutation_p.T944I	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1	1306	Cytoplasmic (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1														0.318681	71.337187	73.999354	29	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71377757	71377757	10735	15	C	T	T	18	18	NEO1	T	2	2
HCN4	10021	broad.mit.edu	36	15	71404511	71404511	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:71404511A>G	uc002avp.1	-	c.1816T>C	c.(1816-1818)TCC>CCC	p.S606P		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	606	Cytoplasmic (Potential).|cAMP.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6														0.43662	208.138293	208.633744	62	80	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;0.142)	Missense_Mutation	SNP	71404511	71404511	7281	15	A	G	G	10	10	HCN4	G	4	4
HCN4	10021	broad.mit.edu	36	15	71422894	71422894	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:71422894G>A	uc002avp.1	-	c.1094C>T	c.(1093-1095)TCG>TTG	p.S365L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	365	Extracellular (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6														0.425532	53.953402	54.164606	20	27	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;0.142)	Missense_Mutation	SNP	71422894	71422894	7281	15	G	A	A	37	37	HCN4	A	1	1
NPTN	27020	broad.mit.edu	36	15	71676445	71676445	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:71676445C>T	uc002avs.1	-	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	NPTN_uc002avt.1_Intron|NPTN_uc010bjc.1_Missense_Mutation_p.R137Q	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	137	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)								0.386364	44.461335	44.960319	17	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71676445	71676445	11006	15	C	T	T	31	31	NPTN	T	1	1
CD276	80381	broad.mit.edu	36	15	71787821	71787821	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:71787821C>T	uc002avv.1	+	c.1458C>T	c.(1456-1458)TTC>TTT	p.F486F	CD276_uc010bjd.1_Silent_p.F340F|CD276_uc002avu.1_Silent_p.F486F|CD276_uc002avw.1_Silent_p.F268F|CD276_uc002avx.2_Non-coding_Transcript	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	486	Helical; (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding				0														0.31746	50.178682	52.044507	20	43	CC		KEEP	---	---	---	---	capture			Silent	SNP	71787821	71787821	3120	15	C	T	T	31	31	CD276	T	1	1
LOXL1	4016	broad.mit.edu	36	15	72025861	72025861	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72025861G>A	uc002awc.1	+	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	LOXL1_uc002awd.1_5'Flank	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	421	Lysyl-oxidase like.				oxidation-reduction process|protein deamination	extracellular space	copper ion binding				0														0.3	26.378967	27.812182	12	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72025861	72025861	9272	15	G	A	A	38	38	LOXL1	A	1	1
STOML1	9399	broad.mit.edu	36	15	72063430	72063430	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72063430C>T	uc002awe.1	-	c.1098G>A	c.(1096-1098)GAG>GAA	p.E366E	STOML1_uc002awf.1_Silent_p.E365E|STOML1_uc010bje.1_Silent_p.E295E|STOML1_uc002awh.1_Silent_p.E316E|STOML1_uc002awg.1_Silent_p.E315E|STOML1_uc002awi.1_Silent_p.E278E	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	366	Cytoplasmic (Potential).|SCP2.					integral to membrane	sterol binding				0														0.466667	101.514709	101.58751	35	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	72063430	72063430	15833	15	C	T	T	28	28	STOML1	T	2	2
PML	5371	broad.mit.edu	36	15	72077575	72077575	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72077575G>A	uc002awv.1	+	c.307G>A	c.(307-309)GCC>ACC	p.A103T	PML_uc002awj.1_Missense_Mutation_p.A103T|PML_uc002awk.1_Missense_Mutation_p.A103T|PML_uc002awl.1_Missense_Mutation_p.A103T|PML_uc002awm.1_Missense_Mutation_p.A103T|PML_uc002awn.1_Missense_Mutation_p.A103T|PML_uc002awo.1_Missense_Mutation_p.A103T|PML_uc002awp.1_Missense_Mutation_p.A103T|PML_uc002awq.1_Missense_Mutation_p.A103T|PML_uc002awr.1_Missense_Mutation_p.A103T|PML_uc002aws.1_Missense_Mutation_p.A103T|PML_uc002awt.1_Missense_Mutation_p.A103T|PML_uc002awu.1_Missense_Mutation_p.A103T|PML_uc002aww.1_Missense_Mutation_p.A18T	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	103					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)	4										214				0.376623	67.951087	68.980516	29	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72077575	72077575	12561	15	G	A	A	38	38	PML	A	1	1
ISLR2	57611	broad.mit.edu	36	15	72212786	72212786	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72212786C>T	uc002axd.1	+	c.638C>T	c.(637-639)TCG>TTG	p.S213L	ISLR2_uc002axe.1_Missense_Mutation_p.S213L|ISLR2_uc010bjf.1_Missense_Mutation_p.S213L|ISLR2_uc002axf.1_Missense_Mutation_p.S213L|ISLR2_uc010bjg.1_Missense_Mutation_p.S213L	NM_020851	NP_065902	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	213	Extracellular (Potential).|LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0														0.37069	110.188209	111.894188	43	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72212786	72212786	8163	15	C	T	T	31	31	ISLR2	T	1	1
ISLR	3671	broad.mit.edu	36	15	72254299	72254299	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72254299C>A	uc002axg.1	+	c.47C>A	c.(46-48)GCT>GAT	p.A16D	ISLR_uc002axh.1_Missense_Mutation_p.A16D|ISLR_uc010bjh.1_Missense_Mutation_p.A16D	NM_005545	NP_958934	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	16					cell adhesion	extracellular region				large_intestine(1)|ovary(1)	2														0.376623	74.856341	75.884219	29	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72254299	72254299	8162	15	C	A	A	28	28	ISLR	A	3	3
STRA6	64220	broad.mit.edu	36	15	72261812	72261812	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72261812G>A	uc002axj.1	-	c.1460C>T	c.(1459-1461)GCC>GTC	p.A487V	STRA6_uc002axi.1_Missense_Mutation_p.A257V|STRA6_uc002axk.1_Missense_Mutation_p.A448V|STRA6_uc010bji.1_Missense_Mutation_p.A448V|STRA6_uc002axl.1_Missense_Mutation_p.A380V|STRA6_uc002axm.1_Missense_Mutation_p.A448V|STRA6_uc002axn.1_Missense_Mutation_p.A439V|STRA6_uc010bjj.1_Non-coding_Transcript	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	448	Helical; (Potential).				transport	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1														0.409091	22.767518	22.92709	9	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72261812	72261812	15842	15	G	A	A	42	42	STRA6	A	2	2
STRA6	64220	broad.mit.edu	36	15	72263360	72263360	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72263360C>T	uc002axj.1	-	c.1307G>A	c.(1306-1308)CGA>CAA	p.R436Q	STRA6_uc002axi.1_Missense_Mutation_p.R206Q|STRA6_uc002axk.1_Missense_Mutation_p.R397Q|STRA6_uc010bji.1_Missense_Mutation_p.R397Q|STRA6_uc002axl.1_Missense_Mutation_p.R329Q|STRA6_uc002axm.1_Missense_Mutation_p.R397Q|STRA6_uc002axn.1_Missense_Mutation_p.R388Q|STRA6_uc010bjj.1_Non-coding_Transcript	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	397	Extracellular (Potential).				transport	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1														0.461538	84.645017	84.728299	30	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72263360	72263360	15842	15	C	T	T	31	31	STRA6	T	1	1
CYP11A1	1583	broad.mit.edu	36	15	72423376	72423376	+	Silent	SNP	G	A	A	rs6160	by-cluster,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72423376G>A	uc002axt.2	-	c.636C>T	c.(634-636)AAC>AAT	p.N212N	CYP11A1_uc002axs.2_Silent_p.N54N|CYP11A1_uc010bjm.1_Silent_p.N54N|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Silent_p.N212N|CYP11A1_uc010bjp.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	cytochrome P450, subfamily XIA isoform a	212					C21-steroid hormone biosynthetic process|cholesterol metabolic process|oxidation-reduction process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	Esophageal Squamous(87;818 1337 4093 9268 37314)								0.425532	50.684894	50.91246	20	27	GG		KEEP	---	---	---	---	capture			Silent	SNP	72423376	72423376	4309	15	G	A	A	40	40	CYP11A1	A	1	1
CYP1A1	1543	broad.mit.edu	36	15	72801814	72801814	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72801814C>A	uc002ayp.2	-	c.678G>T	c.(676-678)GAG>GAT	p.E226D	CYP1A1_uc010bju.1_De_novo_Start_OutOfFrame|CYP1A1_uc010bjv.1_Intron|CYP1A1_uc010bjw.1_Intron|CYP1A1_uc010bjx.1_Intron|CYP1A1_uc002ayq.2_Missense_Mutation_p.E226D|CYP1A1_uc010bjy.1_Missense_Mutation_p.E226D|CYP1A1_uc010bjz.1_De_novo_Start_OutOfFrame	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	226					cellular lipid metabolic process|drug metabolic process|oxidation-reduction process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			breast(2)|ovary(1)|pancreas(1)	4					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)									0.346154	92.707394	94.862656	36	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72801814	72801814	4314	15	C	A	A	24	24	CYP1A1	A	3	3
CYP1A2	1544	broad.mit.edu	36	15	72829156	72829156	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72829156C>A	uc002ayr.1	+	c.24C>A	c.(22-24)CCC>CCA	p.P8P		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	8					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)					140				0.388571	356.87908	360.698754	136	214	CC		KEEP	---	---	---	---	capture			Silent	SNP	72829156	72829156	4315	15	C	A	A	24	24	CYP1A2	A	3	3
CYP1A2	1544	broad.mit.edu	36	15	72830603	72830603	+	Silent	SNP	G	A	A	rs56037745	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72830603G>A	uc002ayr.1	+	c.852G>A	c.(850-852)ACG>ACA	p.T284T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	284					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)				p.T284T(HSC2-Tumor)	140				0.376623	82.653802	83.683234	29	48	GG		KEEP	---	---	---	---	capture			Silent	SNP	72830603	72830603	4315	15	G	A	A	39	39	CYP1A2	A	1	1
CYP1A2	1544	broad.mit.edu	36	15	72834308	72834308	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72834308C>T	uc002ayr.1	+	c.1377C>T	c.(1375-1377)ATC>ATT	p.I459I		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	459					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)					140				0.311258	117.385964	122.167799	47	104	CC		KEEP	---	---	---	---	capture			Silent	SNP	72834308	72834308	4315	15	C	T	T	31	31	CYP1A2	T	1	1
LMAN1L	79748	broad.mit.edu	36	15	72892304	72892304	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72892304A>G	uc002ayt.1	+	c.56A>G	c.(55-57)GAC>GGC	p.D19G	LMAN1L_uc010bkd.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.D19G	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	19						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0														0.390863	229.417404	231.474109	77	120	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72892304	72892304	9166	15	A	G	G	10	10	LMAN1L	G	4	4
LMAN1L	79748	broad.mit.edu	36	15	72892404	72892404	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72892404C>A	uc002ayt.1	+	c.156C>A	c.(154-156)CCC>CCA	p.P52P	LMAN1L_uc010bkd.1_5'UTR|LMAN1L_uc010bke.1_Silent_p.P52P	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	52	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0														0.466019	127.880026	127.984146	48	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	72892404	72892404	9166	15	C	A	A	24	24	LMAN1L	A	3	3
C15orf39	56905	broad.mit.edu	36	15	73287776	73287776	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73287776T>G	uc002azp.2	+	c.2334T>G	c.(2332-2334)ATT>ATG	p.I778M	C15orf39_uc002azq.2_Missense_Mutation_p.I778M|C15orf39_uc002azr.2_Missense_Mutation_p.I176M	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	778											0														0.428571	20.849707	20.911582	6	8	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73287776	73287776	1843	15	T	G	G	64	64	C15orf39	G	4	4
NEIL1	79661	broad.mit.edu	36	15	73431519	73431519	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73431519G>A	uc002bae.1	+	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	NEIL1_uc002bad.1_Missense_Mutation_p.R150Q	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	150					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding				0														0.483333	82.868432	82.883038	29	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73431519	73431519	10717	15	G	A	A	37	37	NEIL1	A	1	1
PTPN9	5780	broad.mit.edu	36	15	73550178	73550178	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73550178C>T	uc002bal.1	-	c.1255G>A	c.(1255-1257)GAA>AAA	p.E419K		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	419	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2														0.412698	151.766995	152.607911	52	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73550178	73550178	13251	15	C	T	T	32	32	PTPN9	T	2	2
SNX33	257364	broad.mit.edu	36	15	73728624	73728624	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73728624G>T	uc002bau.1	+	c.126G>T	c.(124-126)CAG>CAT	p.Q42H	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.1_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	42	SH3.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1														0.550725	96.230569	96.383853	38	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73728624	73728624	15403	15	G	T	T	33	33	SNX33	T	3	3
SNX33	257364	broad.mit.edu	36	15	73729790	73729790	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73729790A>G	uc002bau.1	+	c.1292A>G	c.(1291-1293)GAC>GGC	p.D431G	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.1_Intron	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	431	BAR.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1														0.356164	158.417182	161.095303	52	94	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73729790	73729790	15403	15	A	G	G	10	10	SNX33	G	4	4
CSPG4	1464	broad.mit.edu	36	15	73772553	73772553	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73772553G>T	uc002baw.1	-	c.165C>A	c.(163-165)TTC>TTA	p.F55L		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	55	Extracellular (Potential).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3										549				0.45	23.569359	23.613286	9	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73772553	73772553	4101	15	G	T	T	33	33	CSPG4	T	3	3
ODF3L1	161753	broad.mit.edu	36	15	73805552	73805552	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73805552C>T	uc002bax.1	+	c.328C>T	c.(328-330)CGC>TGC	p.R110C		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	110											0														0.24	12.337993	13.88106	6	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73805552	73805552	11236	15	C	T	T	27	27	ODF3L1	T	1	1
UBE2Q2	92912	broad.mit.edu	36	15	73976450	73976450	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73976450G>T	uc002bbg.1	+	c.1089G>T	c.(1087-1089)GAG>GAT	p.E363D	UBE2Q2_uc002bbh.1_Missense_Mutation_p.E328D|UBE2Q2_uc002bbi.1_Intron	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	363					post-translational protein modification|protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			ovary(2)	2														0.317308	80.027288	83.119447	33	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73976450	73976450	17427	15	G	T	T	33	33	UBE2Q2	T	3	3
FBXO22	26263	broad.mit.edu	36	15	74009408	74009408	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:74009408G>T	uc002bbk.1	+	c.757G>T	c.(757-759)GGC>TGC	p.G253C	FBXO22_uc002bbj.1_Missense_Mutation_p.G253C|FBXO22_uc002bbl.1_Missense_Mutation_p.G149C	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	253					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0														0.386503	155.932102	157.788627	63	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74009408	74009408	5971	15	G	T	T	35	35	FBXO22	T	3	3
SCAPER	49855	broad.mit.edu	36	15	74433438	74433438	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:74433438G>A	uc002bby.1	-	c.3951C>T	c.(3949-3951)TTC>TTT	p.F1317F	SCAPER_uc010bkr.1_Silent_p.F576F|SCAPER_uc002bbx.1_Silent_p.F1072F	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S phase cyclin A-associated protein in the ER	1317						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3														0.333333	65.173665	66.946077	24	48	GG		KEEP	---	---	---	---	capture			Silent	SNP	74433438	74433438	14359	15	G	A	A	41	41	SCAPER	A	2	2
SCAPER	49855	broad.mit.edu	36	15	74782277	74782277	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:74782277C>T	uc002bby.1	-	c.2366G>A	c.(2365-2367)AGA>AAA	p.R789K	SCAPER_uc010bkr.1_Missense_Mutation_p.R98K|SCAPER_uc002bbx.1_Missense_Mutation_p.R544K|SCAPER_uc002bbz.1_Missense_Mutation_p.R661K|SCAPER_uc002bca.1_Missense_Mutation_p.R655K|SCAPER_uc002bcb.1_Missense_Mutation_p.R796K	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S phase cyclin A-associated protein in the ER	789						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3														0.32716	146.914551	151.209328	53	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74782277	74782277	14359	15	C	T	T	32	32	SCAPER	T	2	2
SCAPER	49855	broad.mit.edu	36	15	74808129	74808129	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:74808129C>T	uc002bby.1	-	c.2024G>A	c.(2023-2025)CGC>CAC	p.R675H	SCAPER_uc010bkr.1_5'UTR|SCAPER_uc002bbx.1_Missense_Mutation_p.R430H|SCAPER_uc002bbz.1_Missense_Mutation_p.R547H|SCAPER_uc002bca.1_Missense_Mutation_p.R541H|SCAPER_uc002bcb.1_Missense_Mutation_p.R682H	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S phase cyclin A-associated protein in the ER	675	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3														0.421053	66.490278	66.800083	24	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74808129	74808129	14359	15	C	T	T	27	27	SCAPER	T	1	1
RCN2	5955	broad.mit.edu	36	15	75023176	75023176	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:75023176G>A	uc002bce.1	+	c.524G>A	c.(523-525)CGA>CAA	p.R175Q	RCN2_uc002bcd.1_Missense_Mutation_p.R157Q|RCN2_uc010bks.1_Missense_Mutation_p.R56Q	NM_002902	NP_002893	Q14257	RCN2_HUMAN	reticulocalbin 2 precursor	157	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding				0														0.483871	87.245196	87.259264	30	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75023176	75023176	13649	15	G	A	A	37	37	RCN2	A	1	1
SGK269	79834	broad.mit.edu	36	15	75194053	75194053	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:75194053T>G	uc002bcm.2	-	c.4741A>C	c.(4741-4743)ATC>CTC	p.I1581L		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1581	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										217				0.307692	157.150598	162.715084	52	117	TT		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(199;0.124)	Missense_Mutation	SNP	75194053	75194053	14702	15	T	G	G	50	50	SGK269	G	4	4
SGK269	79834	broad.mit.edu	36	15	75258231	75258231	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:75258231C>A	uc002bcm.2	-	c.3093G>T	c.(3091-3093)AAG>AAT	p.K1031N	SGK269_uc002bcn.2_Missense_Mutation_p.K1031N	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1031					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										217				0.329897	74.249412	76.74624	32	65	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(199;0.124)	Missense_Mutation	SNP	75258231	75258231	14702	15	C	A	A	32	32	SGK269	A	3	3
SGK269	79834	broad.mit.edu	36	15	75259037	75259037	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:75259037C>A	uc002bcm.2	-	c.2287G>T	c.(2287-2289)GCA>TCA	p.A763S	SGK269_uc002bcn.2_Missense_Mutation_p.A763S	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	763					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										217				0.416	145.173672	145.94438	52	73	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(199;0.124)	Missense_Mutation	SNP	75259037	75259037	14702	15	C	A	A	28	28	SGK269	A	3	3
LINGO1	84894	broad.mit.edu	36	15	75693647	75693647	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:75693647C>T	uc002bct.1	-	c.1657G>A	c.(1657-1659)GAC>AAC	p.D553N	LINGO1_uc002bcu.1_Missense_Mutation_p.D547N	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	553	Extracellular (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2														0.380952	84.168065	85.215876	32	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75693647	75693647	9141	15	C	T	T	31	31	LINGO1	T	1	1
LINGO1	84894	broad.mit.edu	36	15	75693887	75693887	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:75693887G>A	uc002bct.1	-	c.1417C>T	c.(1417-1419)CGG>TGG	p.R473W	LINGO1_uc002bcu.1_Missense_Mutation_p.R467W	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	473	Extracellular (Potential).|Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2														0.6	43.024174	43.241857	15	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75693887	75693887	9141	15	G	A	A	38	38	LINGO1	A	1	1
TBC1D2B	23102	broad.mit.edu	36	15	76097338	76097338	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76097338T>C	uc002bcy.2	-	c.1487A>G	c.(1486-1488)TAC>TGC	p.Y496C	TBC1D2B_uc010bla.1_Missense_Mutation_p.Y496C|TBC1D2B_uc010bkz.1_Missense_Mutation_p.Y370C|TBC1D2B_uc002bda.2_5'Flank	NM_015079	NP_055894	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform b	496	Potential.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)|large_intestine(1)|breast(1)	3														0.235294	11.094084	12.181459	4	13	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76097338	76097338	16141	15	T	C	C	57	57	TBC1D2B	C	4	4
CIB2	10518	broad.mit.edu	36	15	76190665	76190665	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76190665G>A	uc002bdb.1	-	c.95C>T	c.(94-96)TCG>TTG	p.S32L	CIB2_uc002bdc.1_5'UTR	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	32							calcium ion binding				0														0.299065	79.855202	83.718075	32	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76190665	76190665	3555	15	G	A	A	37	37	CIB2	A	1	1
ACSBG1	23205	broad.mit.edu	36	15	76253793	76253793	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76253793G>A	uc002bdh.1	-	c.1831C>T	c.(1831-1833)CTC>TTC	p.L611F		NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	611					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1														0.379747	81.8265	82.830049	30	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76253793	76253793	174	15	G	A	A	34	34	ACSBG1	A	2	2
ACSBG1	23205	broad.mit.edu	36	15	76258108	76258108	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76258108C>A	uc002bdh.1	-	c.1605G>T	c.(1603-1605)AAG>AAT	p.K535N		NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	535					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1														0.305556	25.507302	26.723898	11	25	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76258108	76258108	174	15	C	A	A	32	32	ACSBG1	A	3	3
IREB2	3658	broad.mit.edu	36	15	76542432	76542432	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76542432A>C	uc002bdr.2	+	c.220A>C	c.(220-222)AGC>CGC	p.S74R	IREB2_uc002bdq.2_Missense_Mutation_p.S74R	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	74							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0						NSCLC(200;764 2208 35157 49871 50830)								0.334694	234.468421	240.395929	82	163	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	Missense_Mutation	SNP	76542432	76542432	8129	15	A	C	C	3	3	IREB2	C	4	4
CHRNA3	1136	broad.mit.edu	36	15	76680812	76680812	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76680812C>T	uc002bec.1	-	c.1227G>A	c.(1225-1227)AGG>AGA	p.R409R	CHRNA3_uc002bea.2_Non-coding_Transcript|CHRNA3_uc002beb.2_Silent_p.R409R	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	409	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4										173				0.322404	155.336184	160.474989	59	124	CC		KEEP	---	---	---	---	capture			Silent	SNP	76680812	76680812	3518	15	C	T	T	30	30	CHRNA3	T	2	2
CHRNA3	1136	broad.mit.edu	36	15	76681485	76681485	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76681485G>A	uc002bec.1	-	c.554C>T	c.(553-555)GCG>GTG	p.A185V	CHRNA3_uc002bea.2_Non-coding_Transcript|CHRNA3_uc002beb.2_Missense_Mutation_p.A185V	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	185	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4										173				0.352	113.456523	115.873752	44	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76681485	76681485	3518	15	G	A	A	38	38	CHRNA3	A	1	1
CHRNB4	1143	broad.mit.edu	36	15	76708850	76708850	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76708850G>A	uc002bed.1	-	c.852C>T	c.(850-852)ATC>ATT	p.I284I	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.I102I	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	284	Helical; (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									p.I284I(LOXIMVI-Tumor)	152				0.423077	91.360069	91.762934	33	45	GG		KEEP	---	---	---	---	capture			Silent	SNP	76708850	76708850	3527	15	G	A	A	37	37	CHRNB4	A	1	1
MORF4L1	10933	broad.mit.edu	36	15	76974257	76974257	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76974257G>T	uc002bel.1	+	c.960G>T	c.(958-960)GAG>GAT	p.E320D	MORF4L1_uc002bem.1_Missense_Mutation_p.E281D	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	320	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0														0.318966	90.324878	93.708592	37	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76974257	76974257	10097	15	G	T	T	33	33	MORF4L1	T	3	3
RASGRF1	5923	broad.mit.edu	36	15	77104785	77104785	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:77104785G>A	uc002beq.1	-	c.1468C>T	c.(1468-1470)CGA>TGA	p.R490*	RASGRF1_uc002bep.1_Nonsense_Mutation_p.R351*|RASGRF1_uc010blm.1_Nonsense_Mutation_p.R412*|RASGRF1_uc002ber.2_Nonsense_Mutation_p.R490*	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	490	PH 2.				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(2)|ovary(1)|central_nervous_system(1)	4										694				0.416107	166.513227	167.428557	62	87	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	77104785	77104785	13533	15	G	A	A	38	38	RASGRF1	A	5	1
RASGRF1	5923	broad.mit.edu	36	15	77111664	77111664	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:77111664G>A	uc002beq.1	-	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F	RASGRF1_uc002bep.1_Silent_p.F197F|RASGRF1_uc010blm.1_Silent_p.F258F|RASGRF1_uc002ber.2_Silent_p.F336F	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	336	DH.				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(2)|ovary(1)|central_nervous_system(1)	4										694				0.340426	40.382552	41.441839	16	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	77111664	77111664	13533	15	G	A	A	37	37	RASGRF1	A	1	1
KIAA1024	23251	broad.mit.edu	36	15	77536134	77536134	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:77536134C>T	uc002bew.1	+	c.590C>T	c.(589-591)GCC>GTC	p.A197V		NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	197						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4														0.458333	123.581095	123.726975	44	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77536134	77536134	8512	15	C	T	T	26	26	KIAA1024	T	2	2
KIAA1024	23251	broad.mit.edu	36	15	77536869	77536869	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:77536869C>T	uc002bew.1	+	c.1325C>T	c.(1324-1326)TCC>TTC	p.S442F		NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	442						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4														0.321429	71.893804	74.273761	27	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77536869	77536869	8512	15	C	T	T	30	30	KIAA1024	T	2	2
ZFAND6	54469	broad.mit.edu	36	15	78210650	78210650	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:78210650G>A	uc002bfe.1	+	c.438G>A	c.(436-438)AAG>AAA	p.K146K	ZFAND6_uc002bff.1_Silent_p.K146K|ZFAND6_uc002bfg.1_Silent_p.K134K|ZFAND6_uc002bfh.1_Silent_p.K146K|ZFAND6_uc002bfi.1_Silent_p.K146K	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	146	AN1-type.						DNA binding|zinc ion binding				0														0.403226	142.722181	143.738285	50	74	GG		KEEP	---	---	---	---	capture			Silent	SNP	78210650	78210650	18219	15	G	A	A	33	33	ZFAND6	A	2	2
FAH	2184	broad.mit.edu	36	15	78237479	78237479	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:78237479C>T	uc002bfj.1	+	c.104C>T	c.(103-105)GCC>GTC	p.A35V	FAH_uc002bfk.1_Missense_Mutation_p.A35V|FAH_uc002bfm.1_Missense_Mutation_p.A35V|FAH_uc002bfn.1_5'UTR|FAH_uc002bfl.1_Missense_Mutation_p.A35V	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase	35					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0														0.36478	147.093526	149.655756	58	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78237479	78237479	5568	15	C	T	T	26	26	FAH	T	2	2
FAH	2184	broad.mit.edu	36	15	78252535	78252535	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:78252535G>A	uc002bfj.1	+	c.831G>A	c.(829-831)CCG>CCA	p.P277P	FAH_uc002bfk.1_Silent_p.P277P|FAH_uc002bfm.1_Silent_p.P277P|FAH_uc002bfn.1_Silent_p.P207P	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase	277					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0												OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.400966	222.961028	224.741842	83	124	GG		KEEP	---	---	---	---	capture			Silent	SNP	78252535	78252535	5568	15	G	A	A	37	37	FAH	A	1	1
KIAA1199	57214	broad.mit.edu	36	15	78968153	78968153	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:78968153G>A	uc002bfw.1	+	c.925G>A	c.(925-927)GAA>AAA	p.E309K		NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199	309										ovary(1)	1														0.478261	189.936925	189.993751	66	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78968153	78968153	8521	15	G	A	A	37	37	KIAA1199	A	1	1
KIAA1199	57214	broad.mit.edu	36	15	79000450	79000450	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79000450G>A	uc002bfw.1	+	c.2026G>A	c.(2026-2028)GCC>ACC	p.A676T		NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199	676										ovary(1)	1														0.385965	60.034432	60.684755	22	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79000450	79000450	8521	15	G	A	A	42	42	KIAA1199	A	2	2
KIAA1199	57214	broad.mit.edu	36	15	79001457	79001457	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79001457G>A	uc002bfw.1	+	c.2126G>A	c.(2125-2127)GGA>GAA	p.G709E		NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199	709										ovary(1)	1														0.355556	129.669617	132.147791	48	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79001457	79001457	8521	15	G	A	A	41	41	KIAA1199	A	2	2
MESDC1	59274	broad.mit.edu	36	15	79082664	79082664	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79082664G>A	uc002bfz.1	+	c.997G>A	c.(997-999)GTG>ATG	p.V333M		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	333											0														0.315789	14.542609	15.11644	6	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79082664	79082664	9869	15	G	A	A	40	40	MESDC1	A	1	1
IL16	3603	broad.mit.edu	36	15	79371966	79371966	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79371966G>A	uc002bgh.2	+	c.1435G>A	c.(1435-1437)GAA>AAA	p.E479K	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.E479K|IL16_uc002bge.2_Non-coding_Transcript|IL16_uc002bgg.1_Missense_Mutation_p.E479K|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.1_5'UTR|IL16_uc002bgk.1_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	479					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.466019	139.392661	139.495739	48	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79371966	79371966	7934	15	G	A	A	41	41	IL16	A	2	2
IL16	3603	broad.mit.edu	36	15	79379653	79379653	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79379653G>A	uc002bgh.2	+	c.2931G>A	c.(2929-2931)ACG>ACA	p.T977T	IL16_uc010blq.1_Silent_p.T931T|IL16_uc002bge.2_Non-coding_Transcript|IL16_uc002bgg.1_Silent_p.T977T|IL16_uc002bgi.1_Silent_p.T367T|IL16_uc002bgj.1_Silent_p.T471T|IL16_uc002bgk.1_Silent_p.T276T|IL16_uc002bgl.1_Silent_p.T276T	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	977					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.40404	110.178812	110.975891	40	59	GG		KEEP	---	---	---	---	capture			Silent	SNP	79379653	79379653	7934	15	G	A	A	37	37	IL16	A	1	1
IL16	3603	broad.mit.edu	36	15	79382966	79382966	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79382966A>G	uc002bgh.2	+	c.3340A>G	c.(3340-3342)ACC>GCC	p.T1114A	IL16_uc010blq.1_Missense_Mutation_p.T1068A|IL16_uc002bge.2_Non-coding_Transcript|IL16_uc002bgg.1_Missense_Mutation_p.T1114A|IL16_uc002bgi.1_Missense_Mutation_p.T504A|IL16_uc002bgj.1_Missense_Mutation_p.T608A|IL16_uc002bgk.1_Missense_Mutation_p.T413A|IL16_uc002bgl.1_Missense_Mutation_p.T413A	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1114	PDZ 3.|Interaction with HTLV-1 tax.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.380952	45.792917	46.313771	16	26	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79382966	79382966	7934	15	A	G	G	6	6	IL16	G	4	4
STARD5	80765	broad.mit.edu	36	15	79402296	79402296	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79402296G>T	uc002bgm.1	-	c.148C>A	c.(148-150)CTG>ATG	p.L50M	STARD5_uc002bgn.1_Intron	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer protein 5	50	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			ovary(1)	1														0.444444	111.281081	111.524092	40	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79402296	79402296	15779	15	G	T	T	35	35	STARD5	T	3	3
STARD5	80765	broad.mit.edu	36	15	79403466	79403466	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79403466G>A	uc002bgm.1	-	c.30C>T	c.(28-30)AGC>AGT	p.S10S	STARD5_uc002bgn.1_5'UTR	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer protein 5	10	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			ovary(1)	1														0.363636	8.795576	8.975981	4	7	GG		KEEP	---	---	---	---	capture			Silent	SNP	79403466	79403466	15779	15	G	A	A	38	38	STARD5	A	1	1
MEX3B	84206	broad.mit.edu	36	15	80122639	80122639	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:80122639C>T	uc002bgq.1	-	c.1627G>A	c.(1627-1629)GCC>ACC	p.A543T		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	543	RING-type.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2														0.367347	92.874996	94.390336	36	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80122639	80122639	9900	15	C	T	T	27	27	MEX3B	T	1	1
AP3B2	8120	broad.mit.edu	36	15	81142409	81142409	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:81142409G>A	uc002bix.1	-	c.1524C>T	c.(1522-1524)ATC>ATT	p.I508I	AP3B2_uc002biw.1_Silent_p.I88I	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	508					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														0.323077	52.954383	54.759751	21	44	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.229)		Silent	SNP	81142409	81142409	755	15	G	A	A	37	37	AP3B2	A	1	1
TM6SF1	53346	broad.mit.edu	36	15	81596411	81596411	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:81596411G>T	uc002bjp.1	+	c.1096G>T	c.(1096-1098)GAA>TAA	p.E366*	TM6SF1_uc010bmq.1_Nonsense_Mutation_p.E335*|TM6SF1_uc002bjq.1_3'UTR|TM6SF1_uc010bmr.1_Non-coding_Transcript|TM6SF1_uc002bjr.1_Nonsense_Mutation_p.E218*	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	366						integral to membrane				ovary(1)	1														0.488	165.141279	165.157707	61	64	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	81596411	81596411	16502	15	G	T	T	33	33	TM6SF1	T	5	3
ADAMTSL3	57188	broad.mit.edu	36	15	82233370	82233370	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:82233370G>A	uc002bjz.2	+	c.281G>A	c.(280-282)GGA>GAA	p.G94E	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.G94E|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G94E|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G94E	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	94	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18										580				0.432836	78.858037	79.122542	29	38	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.211)		Missense_Mutation	SNP	82233370	82233370	277	15	G	A	A	41	41	ADAMTSL3	A	2	2
ADAMTSL3	57188	broad.mit.edu	36	15	82442447	82442447	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:82442447C>T	uc002bjz.2	+	c.3063C>T	c.(3061-3063)AGC>AGT	p.S1021S	ADAMTSL3_uc010bmt.1_Silent_p.S1021S|ADAMTSL3_uc010bmu.1_Silent_p.S1021S	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1021						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18										580				0.407767	111.426896	112.192892	42	61	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.211)		Silent	SNP	82442447	82442447	277	15	C	T	T	27	27	ADAMTSL3	T	1	1
ADAMTSL3	57188	broad.mit.edu	36	15	82496682	82496682	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:82496682A>G	uc002bjz.2	+	c.4908A>G	c.(4906-4908)AGA>AGG	p.R1636R	ADAMTSL3_uc010bmu.1_Silent_p.R1636R	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1636	TSP type-1 10.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18										580				0.372549	57.813251	58.577346	19	32	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.211)		Silent	SNP	82496682	82496682	277	15	A	G	G	10	10	ADAMTSL3	G	4	4
ZSCAN2	54993	broad.mit.edu	36	15	82965535	82965535	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:82965535G>A	uc002bkr.1	+	c.1105G>A	c.(1105-1107)GAA>AAA	p.E369K	ZSCAN2_uc010bmz.1_Missense_Mutation_p.E367K|ZSCAN2_uc010bna.1_Missense_Mutation_p.E219K	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	369	C2H2-type 6.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.413978	213.26315	214.457898	77	109	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	Missense_Mutation	SNP	82965535	82965535	18835	15	G	A	A	37	37	ZSCAN2	A	1	1
ZSCAN2	54993	broad.mit.edu	36	15	82966223	82966223	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:82966223G>T	uc002bkr.1	+	c.1793G>T	c.(1792-1794)AGC>ATC	p.S598I	ZSCAN2_uc010bmz.1_Missense_Mutation_p.S596I|ZSCAN2_uc010bna.1_Missense_Mutation_p.S448I	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	598	C2H2-type 14.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.342342	99.007268	101.449177	38	73	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	Missense_Mutation	SNP	82966223	82966223	18835	15	G	T	T	34	34	ZSCAN2	T	3	3
WDR73	84942	broad.mit.edu	36	15	82989941	82989941	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:82989941G>A	uc002bkw.1	-	c.648C>T	c.(646-648)AGC>AGT	p.S216S	WDR73_uc002bkv.1_Non-coding_Transcript|WDR73_uc002bkx.1_Non-coding_Transcript	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	216											0														0.45	26.284516	26.325887	9	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	82989941	82989941	17896	15	G	A	A	42	42	WDR73	A	2	2
SEC11A	23478	broad.mit.edu	36	15	83031956	83031956	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83031956C>T	uc002blb.1	-	c.215G>A	c.(214-216)CGA>CAA	p.R72Q	SEC11A_uc002blc.1_Missense_Mutation_p.R46Q	NM_014300	NP_055115	P67812	SC11A_HUMAN	SEC11-like 1	72	Lumenal (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1														0.405405	121.943896	122.813829	45	66	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.199)		Missense_Mutation	SNP	83031956	83031956	14464	15	C	T	T	31	31	SEC11A	T	1	1
ZNF592	9640	broad.mit.edu	36	15	83128520	83128520	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83128520C>A	uc002bld.1	+	c.1610C>A	c.(1609-1611)TCG>TAG	p.S537*		NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	537					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4														0.412371	106.248868	106.906557	40	57	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0587)		Nonsense_Mutation	SNP	83128520	83128520	18617	15	C	A	A	31	31	ZNF592	A	5	3
ALPK3	57538	broad.mit.edu	36	15	83161361	83161361	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83161361G>A	uc002ble.1	+	c.280G>A	c.(280-282)GCC>ACC	p.A94T		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	94					heart development|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	8										343				0.4	9.798263	9.885488	4	6	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0587)		Missense_Mutation	SNP	83161361	83161361	549	15	G	A	A	38	38	ALPK3	A	1	1
ALPK3	57538	broad.mit.edu	36	15	83201268	83201268	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83201268C>T	uc002ble.1	+	c.2901C>T	c.(2899-2901)TTC>TTT	p.F967F		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	967					heart development|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	8										343				0.432039	253.195047	254.012086	89	117	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0587)		Silent	SNP	83201268	83201268	549	15	C	T	T	30	30	ALPK3	T	2	2
ALPK3	57538	broad.mit.edu	36	15	83207786	83207786	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83207786G>T	uc002ble.1	+	c.5017_splice	c.e11-1	p.G1673_splice		NM_020778	NP_065829			alpha-kinase 3						heart development|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	8										343				0.25	24.60062	27.103114	11	33	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0587)		Splice_Site_SNP	SNP	83207786	83207786	549	15	G	T	T	35	35	ALPK3	T	5	3
ALPK3	57538	broad.mit.edu	36	15	83212394	83212394	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83212394C>T	uc002ble.1	+	c.5427C>T	c.(5425-5427)TTC>TTT	p.F1809F		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1809	Alpha-type protein kinase.				heart development|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	8										343				0.342975	208.854966	214.124245	83	159	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0587)		Silent	SNP	83212394	83212394	549	15	C	T	T	31	31	ALPK3	T	1	1
PDE8A	5151	broad.mit.edu	36	15	83411273	83411273	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83411273G>T	uc002blh.1	+	c.268G>T	c.(268-270)GAT>TAT	p.D90Y	PDE8A_uc002bli.1_Missense_Mutation_p.D90Y|PDE8A_uc010bnc.1_5'UTR|PDE8A_uc010bnd.1_5'UTR|PDE8A_uc002blj.1_5'UTR|PDE8A_uc002blk.1_5'UTR	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	90					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)	3	Colorectal(223;0.227)													0.366337	95.850842	97.436096	37	64	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0608)		Missense_Mutation	SNP	83411273	83411273	12074	15	G	T	T	33	33	PDE8A	T	3	3
PDE8A	5151	broad.mit.edu	36	15	83442222	83442222	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83442222G>A	uc002blh.1	+	c.892G>A	c.(892-894)GAT>AAT	p.D298N	PDE8A_uc002bli.1_Missense_Mutation_p.D252N|PDE8A_uc010bnc.1_Missense_Mutation_p.D51N|PDE8A_uc010bnd.1_Missense_Mutation_p.D51N|PDE8A_uc002blj.1_5'UTR|PDE8A_uc002blk.1_5'UTR	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	298	PAC.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)	3	Colorectal(223;0.227)													0.205128	17.876102	21.023304	8	31	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0608)		Missense_Mutation	SNP	83442222	83442222	12074	15	G	A	A	33	33	PDE8A	A	2	2
PDE8A	5151	broad.mit.edu	36	15	83467315	83467315	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83467315C>T	uc002blh.1	+	c.1972C>T	c.(1972-1974)CGC>TGC	p.R658C	PDE8A_uc002bli.1_Missense_Mutation_p.R612C|PDE8A_uc010bnc.1_Missense_Mutation_p.R411C|PDE8A_uc010bnd.1_Missense_Mutation_p.R411C|PDE8A_uc002blj.1_Missense_Mutation_p.R278C|PDE8A_uc002blk.1_Missense_Mutation_p.R278C|PDE8A_uc002bll.1_Missense_Mutation_p.R10C	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	658	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)	3	Colorectal(223;0.227)													0.384615	92.106383	93.166991	35	56	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0608)		Missense_Mutation	SNP	83467315	83467315	12074	15	C	T	T	27	27	PDE8A	T	1	1
AKAP13	11214	broad.mit.edu	36	15	83924531	83924531	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83924531G>A	uc002blu.1	+	c.2228G>A	c.(2227-2229)CGA>CAA	p.R743Q	AKAP13_uc002blt.1_Missense_Mutation_p.R743Q|AKAP13_uc002blv.1_Missense_Mutation_p.R743Q|AKAP13_uc010bne.1_5'Flank	NM_006738	NP_006729	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 1	743					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)|ovary(1)|liver(1)	8						Melanoma(94;603 1453 3280 32295 32951)								0.330357	97.337044	100.19366	37	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83924531	83924531	452	15	G	A	A	37	37	AKAP13	A	1	1
AKAP13	11214	broad.mit.edu	36	15	83990100	83990100	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83990100A>C	uc002blu.1	+	c.4285A>C	c.(4285-4287)AAA>CAA	p.K1429Q	AKAP13_uc002blt.1_Missense_Mutation_p.K1429Q|AKAP13_uc002blv.1_Missense_Mutation_p.K1429Q|AKAP13_uc010bne.1_Missense_Mutation_p.K82Q|AKAP13_uc010bnf.1_Missense_Mutation_p.K69Q	NM_006738	NP_006729	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 1	1429					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)|ovary(1)|liver(1)	8						Melanoma(94;603 1453 3280 32295 32951)								0.39779	232.96847	234.621112	72	109	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83990100	83990100	452	15	A	C	C	1	1	AKAP13	C	4	4
AKAP13	11214	broad.mit.edu	36	15	84087924	84087924	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:84087924G>A	uc002blu.1	+	c.8268G>A	c.(8266-8268)CAG>CAA	p.Q2756Q	AKAP13_uc002blv.1_Silent_p.Q2752Q|AKAP13_uc002blw.1_Silent_p.Q1217Q|AKAP13_uc002blx.1_Silent_p.Q997Q	NM_006738	NP_006729	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 1	2752	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)|ovary(1)|liver(1)	8						Melanoma(94;603 1453 3280 32295 32951)								0.375	132.853378	134.614396	48	80	GG		KEEP	---	---	---	---	capture			Silent	SNP	84087924	84087924	452	15	G	A	A	33	33	AKAP13	A	2	2
AKAP13	11214	broad.mit.edu	36	15	84088882	84088882	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:84088882A>G	uc002blu.1	+	c.8424A>G	c.(8422-8424)GTA>GTG	p.V2808V	AKAP13_uc002blv.1_Silent_p.V2804V|AKAP13_uc002blw.1_Silent_p.V1269V|AKAP13_uc002blx.1_Silent_p.V1049V	NM_006738	NP_006729	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 1	2804	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)|ovary(1)|liver(1)	8						Melanoma(94;603 1453 3280 32295 32951)								0.319588	191.603159	197.202292	62	132	AA		KEEP	---	---	---	---	capture			Silent	SNP	84088882	84088882	452	15	A	G	G	16	16	AKAP13	G	4	4
KLHL25	64410	broad.mit.edu	36	15	84112837	84112837	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:84112837G>A	uc002bly.1	-	c.1209C>T	c.(1207-1209)TTC>TTT	p.F403F	KLHL25_uc010bng.1_Silent_p.F403F	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	403	Kelch 3.					cytoplasm				ovary(2)	2														0.333333	69.194832	71.18909	27	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	84112837	84112837	8692	15	G	A	A	41	41	KLHL25	A	2	2
AGBL1	123624	broad.mit.edu	36	15	84592093	84592093	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:84592093G>T	uc002blz.1	+	c.576G>T	c.(574-576)GAG>GAT	p.E192D		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	192					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0														0.383929	107.082109	108.410211	43	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84592093	84592093	377	15	G	T	T	33	33	AGBL1	T	3	3
NTRK3	4916	broad.mit.edu	36	15	86284983	86284983	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:86284983G>A	uc002bme.1	-	c.1591C>T	c.(1591-1593)CAG>TAG	p.Q531*	NTRK3_uc002bmh.2_Nonsense_Mutation_p.Q523*|NTRK3_uc002bmf.1_Nonsense_Mutation_p.Q531*|NTRK3_uc010bnh.1_Nonsense_Mutation_p.Q523*	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	531	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259										506	TSP Lung(13;0.10)			0.395833	246.943795	249.230988	95	145	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.211)		Nonsense_Mutation	SNP	86284983	86284983	11113	15	G	A	A	46	46	NTRK3	A	5	2
NTRK3	4916	broad.mit.edu	36	15	86471456	86471456	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:86471456C>T	uc002bme.1	-	c.1234G>A	c.(1234-1236)GAA>AAA	p.E412K	NTRK3_uc002bmh.2_Missense_Mutation_p.E404K|NTRK3_uc002bmf.1_Missense_Mutation_p.E412K|NTRK3_uc010bnh.1_Missense_Mutation_p.E404K|NTRK3_uc002bmg.1_Missense_Mutation_p.E412K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	412	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259										506	TSP Lung(13;0.10)			0.318182	35.734799	37.027557	14	30	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.211)		Missense_Mutation	SNP	86471456	86471456	11113	15	C	T	T	31	31	NTRK3	T	1	1
NTRK3	4916	broad.mit.edu	36	15	86480802	86480802	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:86480802C>T	uc002bme.1	-	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	NTRK3_uc002bmh.2_Missense_Mutation_p.R222Q|NTRK3_uc002bmf.1_Missense_Mutation_p.R222Q|NTRK3_uc010bnh.1_Missense_Mutation_p.R222Q|NTRK3_uc002bmg.1_Missense_Mutation_p.R222Q	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	222	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259										506	TSP Lung(13;0.10)			0.557692	82.160973	82.309799	29	23	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.211)		Missense_Mutation	SNP	86480802	86480802	11113	15	C	T	T	31	31	NTRK3	T	1	1
NTRK3	4916	broad.mit.edu	36	15	86527671	86527671	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:86527671T>C	uc002bme.1	-	c.377A>G	c.(376-378)AAC>AGC	p.N126S	NTRK3_uc002bmh.2_Missense_Mutation_p.N126S|NTRK3_uc002bmf.1_Missense_Mutation_p.N126S|NTRK3_uc010bnh.1_Missense_Mutation_p.N126S|NTRK3_uc002bmg.1_Missense_Mutation_p.N126S	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	126	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259										506	TSP Lung(13;0.10)			0.384615	196.073047	197.890525	60	96	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.211)		Missense_Mutation	SNP	86527671	86527671	11113	15	T	C	C	60	60	NTRK3	C	4	4
ISG20	3669	broad.mit.edu	36	15	86983680	86983680	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:86983680C>T	uc002bmv.1	+	c.79C>T	c.(79-81)CGT>TGT	p.R27C	ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_Non-coding_Transcript	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease	27					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity				0	Lung NSC(78;0.0554)|all_lung(78;0.103)											OREG0023441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.491228	77.092578	77.096477	28	29	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.12)		Missense_Mutation	SNP	86983680	86983680	8158	15	C	T	T	31	31	ISG20	T	1	1
ACAN	176	broad.mit.edu	36	15	87201594	87201594	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87201594G>T	uc002bmy.1	+	c.4432G>T	c.(4432-4434)GGA>TGA	p.G1478*	ACAN_uc002bmz.1_Nonsense_Mutation_p.G1478*|ACAN_uc002bna.1_5'UTR	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)													0.431034	210.186214	210.910063	75	99	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.146)		Nonsense_Mutation	SNP	87201594	87201594	118	15	G	T	T	47	47	ACAN	T	5	3
ACAN	176	broad.mit.edu	36	15	87203166	87203166	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87203166G>A	uc002bmy.1	+	c.6004G>A	c.(6004-6006)GCC>ACC	p.A2002T	ACAN_uc002bmz.1_Missense_Mutation_p.A2002T|ACAN_uc002bna.1_Missense_Mutation_p.A246T	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)													0.377049	61.008495	61.818134	23	38	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.146)		Missense_Mutation	SNP	87203166	87203166	118	15	G	A	A	38	38	ACAN	A	1	1
ABHD2	11057	broad.mit.edu	36	15	87532509	87532509	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87532509C>T	uc002bnj.1	+	c.897C>T	c.(895-897)TCC>TCT	p.S299S	ABHD2_uc002bnk.1_Silent_p.S299S	NM_007011	NP_690888	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	299						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					Colon(11;252 417 24570 33239 41878)								0.315068	63.697749	65.919268	23	50	CC		KEEP	---	---	---	---	capture			Silent	SNP	87532509	87532509	83	15	C	T	T	22	22	ABHD2	T	2	2
FANCI	55215	broad.mit.edu	36	15	87650326	87650326	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87650326T>A	uc010bnp.1	+	c.3434T>A	c.(3433-3435)TTC>TAC	p.F1145Y	FANCI_uc002bnm.1_Missense_Mutation_p.F1085Y|FANCI_uc002bnn.1_Intron|FANCI_uc002bnp.1_Missense_Mutation_p.F905Y|FANCI_uc002bnq.1_Missense_Mutation_p.F558Y	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1145					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)									1164				0.40708	113.731554	114.580771	46	67	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87650326	87650326	5905	15	T	A	A	62	62	FANCI	A	4	4
POLG	5428	broad.mit.edu	36	15	87663189	87663189	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87663189C>T	uc002bns.2	-	c.3250G>A	c.(3250-3252)GAG>AAG	p.E1084K	POLG_uc002bnr.2_Missense_Mutation_p.E1084K	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA polymerase gamma	1084					base-excision repair, gap-filling|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					Colon(73;648 1203 11348 18386 27782)								0.31068	78.756283	82.048019	32	71	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(125;0.165)		Missense_Mutation	SNP	87663189	87663189	12628	15	C	T	T	30	30	POLG	T	2	2
C15orf42	90381	broad.mit.edu	36	15	87968154	87968154	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87968154G>A	uc002boe.1	+	c.3609G>A	c.(3607-3609)CCG>CCA	p.P1203P		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1203	Pro-rich.				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|response to ionizing radiation|S-M checkpoint	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)	6	Lung NSC(78;0.0237)|all_lung(78;0.0478)													0.416382	329.584566	331.374752	122	171	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.128)		Silent	SNP	87968154	87968154	1846	15	G	A	A	38	38	C15orf42	A	1	1
KIF7	374654	broad.mit.edu	36	15	87977938	87977938	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87977938G>A	uc002bof.1	-	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W		NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	859	Potential.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)													0.464286	35.770696	35.801885	13	15	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.128)		Missense_Mutation	SNP	87977938	87977938	8620	15	G	A	A	38	38	KIF7	A	1	1
PLIN1	5346	broad.mit.edu	36	15	88013795	88013795	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88013795C>A	uc002boh.1	-	c.711G>T	c.(709-711)ATG>ATT	p.M237I		NM_002666	NP_002657	O60240	PLIN1_HUMAN	perilipin	237					triglyceride catabolic process	lipid particle	lipid binding			central_nervous_system(1)|skin(1)	2														0.494505	126.453594	126.456175	45	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88013795	88013795	12515	15	C	A	A	21	21	PLIN1	A	3	3
MESP2	145873	broad.mit.edu	36	15	88121394	88121394	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88121394G>A	uc002bon.1	+	c.802G>A	c.(802-804)GAC>AAC	p.D268N	MESP2_uc002bom.1_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog	268					Notch signaling pathway	nucleus	DNA binding|transcription regulator activity				0	Lung NSC(78;0.0221)|all_lung(78;0.0448)													0.3125	24.53803	25.539824	10	22	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		Missense_Mutation	SNP	88121394	88121394	9872	15	G	A	A	37	37	MESP2	A	1	1
ANPEP	290	broad.mit.edu	36	15	88145788	88145788	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88145788G>A	uc002bop.2	-	c.1624C>T	c.(1624-1626)CGC>TGC	p.R542C		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	542	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)	3	Lung NSC(78;0.0221)|all_lung(78;0.0448)				Ezetimibe(DB00973)	NSCLC(30;827 977 2459 19669 26125)								0.448718	107.839041	108.013392	35	43	GG		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	88145788	88145788	718	15	G	A	A	39	39	ANPEP	A	1	1
ANPEP	290	broad.mit.edu	36	15	88150573	88150573	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88150573G>A	uc002bop.2	-	c.246C>T	c.(244-246)CCC>CCT	p.P82P		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	82	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)	3	Lung NSC(78;0.0221)|all_lung(78;0.0448)				Ezetimibe(DB00973)	NSCLC(30;827 977 2459 19669 26125)								0.378947	100.780484	102.000374	36	59	GG		KEEP	---	---	---	---	capture	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)		Silent	SNP	88150573	88150573	718	15	G	A	A	39	39	ANPEP	A	1	1
IDH2	3418	broad.mit.edu	36	15	88429267	88429267	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88429267C>A	uc002box.1	-	c.1148G>T	c.(1147-1149)GGG>GTG	p.G383V	IDH2_uc010bnu.1_Missense_Mutation_p.G274V	NM_002168	NP_002159	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+),	383					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			haematopoietic_and_lymphoid_tissue(445)|central_nervous_system(77)|skin(3)	525	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)									387				0.317365	127.314748	132.268341	53	114	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		Missense_Mutation	SNP	88429267	88429267	7795	15	C	A	A	22	22	IDH2	A	3	3
IDH2	3418	broad.mit.edu	36	15	88431737	88431737	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88431737C>A	uc002box.1	-	c.753G>T	c.(751-753)AAG>AAT	p.K251N	IDH2_uc010bnu.1_Missense_Mutation_p.K142N	NM_002168	NP_002159	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+),	251		Critical for catalysis (By similarity).			2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			haematopoietic_and_lymphoid_tissue(445)|central_nervous_system(77)|skin(3)	525	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)									387		OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.321053	145.489165	150.904122	61	129	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		Missense_Mutation	SNP	88431737	88431737	7795	15	C	A	A	32	32	IDH2	A	3	3
SEMA4B	10509	broad.mit.edu	36	15	88561704	88561704	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88561704G>A	uc002boy.1	+	c.187G>A	c.(187-189)GAA>AAA	p.E63K	SEMA4B_uc002boz.1_Missense_Mutation_p.E63K|SEMA4B_uc002bpa.1_5'Flank	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)													0.340909	36.807167	37.793453	15	29	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		Missense_Mutation	SNP	88561704	88561704	14518	15	G	A	A	37	37	SEMA4B	A	1	1
TTLL13	440307	broad.mit.edu	36	15	88601933	88601933	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88601933C>T	uc002bpd.1	+	c.910C>T	c.(910-912)CGG>TGG	p.R304W	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	304	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)													0.43038	98.722097	99.058249	34	45	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		Missense_Mutation	SNP	88601933	88601933	17281	15	C	T	T	23	23	TTLL13	T	1	1
IQGAP1	8826	broad.mit.edu	36	15	88798709	88798709	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88798709G>T	uc002bpl.1	+	c.1533G>T	c.(1531-1533)GAG>GAT	p.E511D		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	511					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)													0.353383	118.673215	121.199289	47	86	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		Missense_Mutation	SNP	88798709	88798709	8117	15	G	T	T	33	33	IQGAP1	T	3	3
IQGAP1	8826	broad.mit.edu	36	15	88817993	88817993	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88817993C>T	uc002bpl.1	+	c.2392C>T	c.(2392-2394)CGG>TGG	p.R798W		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	798	IQ 2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)													0.366667	58.432894	59.371142	22	38	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		Missense_Mutation	SNP	88817993	88817993	8117	15	C	T	T	31	31	IQGAP1	T	1	1
BLM	641	broad.mit.edu	36	15	89093802	89093802	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89093802G>T	uc002bpr.1	+	c.300G>T	c.(298-300)CAG>CAT	p.Q100H	BLM_uc010bnx.1_Missense_Mutation_p.Q100H	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	100					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)	3	Lung NSC(78;0.0875)|all_lung(78;0.109)									462				0.371795	73.545325	74.675037	29	49	GG		KEEP	---	---	---	---	capture	Lung(145;0.189)		Missense_Mutation	SNP	89093802	89093802	1470	15	G	T	T	33	33	BLM	T	3	3
BLM	641	broad.mit.edu	36	15	89107227	89107227	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89107227G>T	uc002bpr.1	+	c.1910G>T	c.(1909-1911)AGA>ATA	p.R637I	BLM_uc010bnx.1_Missense_Mutation_p.R637I|BLM_uc002bps.1_Missense_Mutation_p.R199I	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	637					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)	3	Lung NSC(78;0.0875)|all_lung(78;0.109)									462				0.5	104.865967	104.865967	37	37	GG		KEEP	---	---	---	---	capture	Lung(145;0.189)		Missense_Mutation	SNP	89107227	89107227	1470	15	G	T	T	33	33	BLM	T	3	3
BLM	641	broad.mit.edu	36	15	89113718	89113718	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89113718G>A	uc002bpr.1	+	c.2453G>A	c.(2452-2454)CGC>CAC	p.R818H	BLM_uc010bnx.1_Missense_Mutation_p.R818H|BLM_uc002bps.1_Missense_Mutation_p.R380H	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	818	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)	3	Lung NSC(78;0.0875)|all_lung(78;0.109)								p.R818H(PF382-Tumor)	462				0.428571	154.855001	155.445716	57	76	GG		KEEP	---	---	---	---	capture	Lung(145;0.189)		Missense_Mutation	SNP	89113718	89113718	1470	15	G	A	A	38	38	BLM	A	1	1
FURIN	5045	broad.mit.edu	36	15	89225922	89225922	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89225922T>C	uc002bpu.1	+	c.2195T>C	c.(2194-2196)GTC>GCC	p.V732A	FES_uc002bpv.1_5'Flank|FES_uc002bpw.1_5'Flank	NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	732	Helical; (Potential).				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|positive regulation of membrane protein ectodomain proteolysis|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)	4	Lung NSC(78;0.0771)|all_lung(78;0.137)									290				0.433333	214.965443	215.544037	65	85	TT		KEEP	---	---	---	---	capture	Lung(145;0.189)		Missense_Mutation	SNP	89225922	89225922	6350	15	T	C	C	58	58	FURIN	C	4	4
FES	2242	broad.mit.edu	36	15	89233668	89233668	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89233668G>A	uc002bpv.1	+	c.797G>A	c.(796-798)CGA>CAA	p.R266Q	FES_uc002bpw.1_Non-coding_Transcript|FES_uc002bpx.1_Missense_Mutation_p.R266Q|FES_uc002bpy.1_Missense_Mutation_p.R208Q|FES_uc002bpz.1_Missense_Mutation_p.R208Q|FES_uc010bny.1_Missense_Mutation_p.R208Q	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	266					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)									206				0.380435	93.105354	94.257458	35	57	GG		KEEP	---	---	---	---	capture	Lung(145;0.229)		Missense_Mutation	SNP	89233668	89233668	6057	15	G	A	A	37	37	FES	A	1	1
FES	2242	broad.mit.edu	36	15	89237549	89237549	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89237549G>A	uc002bpv.1	+	c.1946G>A	c.(1945-1947)CGC>CAC	p.R649H	FES_uc002bpw.1_Non-coding_Transcript|FES_uc002bpx.1_Missense_Mutation_p.R579H|FES_uc002bpy.1_Missense_Mutation_p.R591H|FES_uc002bpz.1_Missense_Mutation_p.R521H|FES_uc010bny.1_Missense_Mutation_p.R508H	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	649	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)									206				0.28125	21.163862	22.538814	9	23	GG		KEEP	---	---	---	---	capture	Lung(145;0.229)		Missense_Mutation	SNP	89237549	89237549	6057	15	G	A	A	38	38	FES	A	1	1
MAN2A2	4122	broad.mit.edu	36	15	89251669	89251669	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89251669G>A	uc010bnz.1	+	c.1136G>A	c.(1135-1137)CGC>CAC	p.R379H	MAN2A2_uc002bqa.1_Non-coding_Transcript|MAN2A2_uc002bqb.1_Non-coding_Transcript|MAN2A2_uc002bqc.1_Missense_Mutation_p.R379H|MAN2A2_uc010boa.1_Missense_Mutation_p.R421H	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	379	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)													0.393939	135.462249	136.764328	52	80	GG		KEEP	---	---	---	---	capture	Lung(145;0.229)		Missense_Mutation	SNP	89251669	89251669	9598	15	G	A	A	38	38	MAN2A2	A	1	1
MAN2A2	4122	broad.mit.edu	36	15	89256854	89256854	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89256854G>T	uc010bnz.1	+	c.2425G>T	c.(2425-2427)GAC>TAC	p.D809Y	MAN2A2_uc002bqa.1_Non-coding_Transcript|MAN2A2_uc002bqb.1_Non-coding_Transcript|MAN2A2_uc002bqc.1_Missense_Mutation_p.D809Y	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	809					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)													0.378378	69.088967	70.046052	28	46	GG		KEEP	---	---	---	---	capture	Lung(145;0.229)		Missense_Mutation	SNP	89256854	89256854	9598	15	G	T	T	33	33	MAN2A2	T	3	3
UNC45A	55898	broad.mit.edu	36	15	89279792	89279792	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89279792G>T	uc002bqg.1	+	c.66G>T	c.(64-66)GAG>GAT	p.E22D	UNC45A_uc002bqd.1_Missense_Mutation_p.E7D	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	22	TPR 1.				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)													0.109091	8.515131	25.174299	12	98	GG		KEEP	---	---	---	---	capture	Lung(145;0.189)		Missense_Mutation	SNP	89279792	89279792	17546	15	G	T	T	34	34	UNC45A	T	3	3
VPS33B	26276	broad.mit.edu	36	15	89343994	89343994	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89343994G>A	uc002bqp.1	-	c.1691C>T	c.(1690-1692)TCC>TTC	p.S564F	VPS33B_uc002bqq.1_Missense_Mutation_p.S473F	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	564					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			ovary(1)	1	Lung NSC(78;0.0987)|all_lung(78;0.175)													0.13913	65.985036	109.398228	48	297	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89343994	89343994	17769	15	G	A	A	41	41	VPS33B	A	2	2
SLCO3A1	28232	broad.mit.edu	36	15	90260558	90260558	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:90260558C>T	uc002bqx.1	+	c.512C>T	c.(511-513)ACG>ATG	p.T171M	SLCO3A1_uc002bqy.1_Missense_Mutation_p.T171M|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.T113M	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	171	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity				0	Lung NSC(78;0.0158)|all_lung(78;0.0255)													0.4375	16.913377	16.969187	7	9	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0841)		Missense_Mutation	SNP	90260558	90260558	15225	15	C	T	T	19	19	SLCO3A1	T	1	1
ST8SIA2	8128	broad.mit.edu	36	15	90782677	90782677	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:90782677C>T	uc002bra.1	+	c.381C>T	c.(379-381)TTC>TTT	p.F127F	ST8SIA2_uc002brb.1_Silent_p.F106F	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	127	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)													0.405738	272.36965	274.265921	99	145	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		Silent	SNP	90782677	90782677	15750	15	C	T	T	31	31	ST8SIA2	T	1	1
ST8SIA2	8128	broad.mit.edu	36	15	90782757	90782757	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:90782757T>G	uc002bra.1	+	c.461T>G	c.(460-462)TTT>TGT	p.F154C	ST8SIA2_uc002brb.1_Missense_Mutation_p.F133C	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	154	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)													0.451327	166.617047	166.849516	51	62	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		Missense_Mutation	SNP	90782757	90782757	15750	15	T	G	G	64	64	ST8SIA2	G	4	4
ST8SIA2	8128	broad.mit.edu	36	15	90808576	90808576	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:90808576G>T	uc002bra.1	+	c.1085G>T	c.(1084-1086)GGG>GTG	p.G362V	ST8SIA2_uc002brb.1_Missense_Mutation_p.G341V	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	362	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)													0.325581	137.127698	141.777286	56	116	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		Missense_Mutation	SNP	90808576	90808576	15750	15	G	T	T	43	43	ST8SIA2	T	3	3
C15orf32	145858	broad.mit.edu	36	15	90816665	90816665	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:90816665T>G	uc002brc.1	+	c.283T>G	c.(283-285)TTG>GTG	p.L95V	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	95										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)													0.39604	114.984091	115.964834	40	61	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		Missense_Mutation	SNP	90816665	90816665	1840	15	T	G	G	64	64	C15orf32	G	4	4
CHD2	1106	broad.mit.edu	36	15	91271543	91271543	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:91271543G>A	uc002bsp.1	+	c.360G>A	c.(358-360)TCG>TCA	p.S120S	CHD2_uc002bso.1_Silent_p.S120S|CHD2_uc002bsm.1_Silent_p.S120S|CHD2_uc002bsn.1_Silent_p.S120S	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	120					chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding			ovary(1)	1	Lung NSC(78;0.00976)|all_lung(78;0.016)													0.45	74.813705	74.944817	27	33	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		Silent	SNP	91271543	91271543	3459	15	G	A	A	38	38	CHD2	A	1	1
CHD2	1106	broad.mit.edu	36	15	91287289	91287289	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:91287289G>A	uc002bsp.1	+	c.1039G>A	c.(1039-1041)GAA>AAA	p.E347K	CHD2_uc002bso.1_Missense_Mutation_p.E347K|CHD2_uc002bsm.1_Missense_Mutation_p.E347K|CHD2_uc002bsn.1_Missense_Mutation_p.E347K|CHD2_uc010bof.1_Non-coding_Transcript	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	347	Chromo 1.				chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding			ovary(1)	1	Lung NSC(78;0.00976)|all_lung(78;0.016)													0.425	48.266337	48.463058	17	23	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		Missense_Mutation	SNP	91287289	91287289	3459	15	G	A	A	37	37	CHD2	A	1	1
CHD2	1106	broad.mit.edu	36	15	91311579	91311579	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:91311579T>A	uc002bsp.1	+	c.2021T>A	c.(2020-2022)TTT>TAT	p.F674Y	CHD2_uc002bso.1_Missense_Mutation_p.F674Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	674					chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding			ovary(1)	1	Lung NSC(78;0.00976)|all_lung(78;0.016)													0.474576	76.891635	76.924993	28	31	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		Missense_Mutation	SNP	91311579	91311579	3459	15	T	A	A	64	64	CHD2	A	4	4
CHD2	1106	broad.mit.edu	36	15	91346470	91346470	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:91346470G>A	uc002bsp.1	+	c.4197G>A	c.(4195-4197)GAG>GAA	p.E1399E	CHD2_uc002bso.1_Silent_p.E1399E	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1399					chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding			ovary(1)	1	Lung NSC(78;0.00976)|all_lung(78;0.016)													0.366906	142.68104	144.848742	51	88	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		Silent	SNP	91346470	91346470	3459	15	G	A	A	33	33	CHD2	A	2	2
RGMA	56963	broad.mit.edu	36	15	91396377	91396377	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:91396377G>T	uc002bss.1	-	c.495C>A	c.(493-495)CTC>CTA	p.L165L	RGMA_uc002bsq.1_Silent_p.L149L|RGMA_uc010boi.1_Silent_p.L56L|RGMA_uc002bsr.1_Silent_p.L56L	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A	165					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)													0.333333	16.715896	17.233561	7	14	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		Silent	SNP	91396377	91396377	13753	15	G	T	T	33	33	RGMA	T	3	3
MCTP2	55784	broad.mit.edu	36	15	92659844	92659844	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:92659844G>A	uc002btj.1	+	c.611G>A	c.(610-612)CGG>CAG	p.R204Q	MCTP2_uc002btg.2_Missense_Mutation_p.R204Q|MCTP2_uc002bth.2_Missense_Mutation_p.R204Q|MCTP2_uc002bti.1_Missense_Mutation_p.R204Q|MCTP2_uc010boj.1_5'UTR|MCTP2_uc010bok.1_Missense_Mutation_p.R204Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	204	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)	2	Lung NSC(78;0.0821)|all_lung(78;0.148)													0.410714	70.314567	70.704573	23	33	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		Missense_Mutation	SNP	92659844	92659844	9790	15	G	A	A	39	39	MCTP2	A	1	1
MCTP2	55784	broad.mit.edu	36	15	92700462	92700462	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:92700462G>T	uc002btj.1	+	c.1098G>T	c.(1096-1098)AAG>AAT	p.K366N	MCTP2_uc002bti.1_Missense_Mutation_p.K366N|MCTP2_uc010boj.1_Missense_Mutation_p.K95N|MCTP2_uc010bok.1_Missense_Mutation_p.K366N|MCTP2_uc002btl.1_5'UTR|MCTP2_uc002btk.2_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	366	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)	2	Lung NSC(78;0.0821)|all_lung(78;0.148)													0.456311	124.096156	124.269146	47	56	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		Missense_Mutation	SNP	92700462	92700462	9790	15	G	T	T	33	33	MCTP2	T	3	3
MCTP2	55784	broad.mit.edu	36	15	92743287	92743287	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:92743287T>C	uc002btj.1	+	c.1882T>C	c.(1882-1884)TAT>CAT	p.Y628H	MCTP2_uc010boj.1_Missense_Mutation_p.Y357H|MCTP2_uc010bok.1_Missense_Mutation_p.Y628H|MCTP2_uc002btl.1_Missense_Mutation_p.Y216H|MCTP2_uc002btk.2_Missense_Mutation_p.Y216H	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	628					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)	2	Lung NSC(78;0.0821)|all_lung(78;0.148)													0.460317	101.67945	101.764435	29	34	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		Missense_Mutation	SNP	92743287	92743287	9790	15	T	C	C	49	49	MCTP2	C	4	4
NR2F2	7026	broad.mit.edu	36	15	94681663	94681663	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:94681663C>T	uc002btq.1	+	c.1053C>T	c.(1051-1053)AGC>AGT	p.S351S	NR2F2_uc002btp.1_Silent_p.S218S	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	351	Interaction with ZFPM2 (By similarity).|Important for dimerization.|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of gene-specific transcription|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|promoter binding|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)	2	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)													0.132867	22.227413	40.946927	19	124	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		Silent	SNP	94681663	94681663	11033	15	C	T	T	26	26	NR2F2	T	2	2
SPATA8	145946	broad.mit.edu	36	15	95127896	95127896	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:95127896C>A	uc002bue.1	+	c.7C>A	c.(7-9)CCG>ACG	p.P3T		NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	3										ovary(1)	1	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)													0.347826	80.668497	82.550448	32	60	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		Missense_Mutation	SNP	95127896	95127896	15525	15	C	A	A	22	22	SPATA8	A	3	3
SPATA8	145946	broad.mit.edu	36	15	95129314	95129314	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:95129314G>T	uc002bue.1	+	c.281G>T	c.(280-282)AGG>ATG	p.R94M		NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	94										ovary(1)	1	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)													0.442953	180.915737	181.340295	66	83	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		Missense_Mutation	SNP	95129314	95129314	15525	15	G	T	T	35	35	SPATA8	T	3	3
IGF1R	3480	broad.mit.edu	36	15	97295618	97295618	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:97295618C>T	uc002bul.1	+	c.2999C>T	c.(2998-3000)ACC>ATC	p.T1000I	IGF1R_uc010bon.1_Missense_Mutation_p.T999I|IGF1R_uc010boo.1_Intron	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1000	Protein kinase.|Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	integral to plasma membrane|microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)					471				0.269663	54.490457	58.733499	24	65	CC		KEEP	---	---	---	---	capture	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Missense_Mutation	SNP	97295618	97295618	7872	15	C	T	T	18	18	IGF1R	T	2	2
PGPEP1L	145814	broad.mit.edu	36	15	97330205	97330205	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:97330205C>T	uc002bum.1	-	c.343G>A	c.(343-345)GAC>AAC	p.D115N	PGPEP1L_uc010bop.1_Missense_Mutation_p.D61N|PGPEP1L_uc002bun.1_Non-coding_Transcript	NM_001102612	NP_001096082	A6NFU8	PGPIL_HUMAN	hypothetical protein LOC145814	115					proteolysis		cysteine-type peptidase activity				0														0.416185	195.757349	196.820477	72	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97330205	97330205	12227	15	C	T	T	31	31	PGPEP1L	T	1	1
SYNM	23336	broad.mit.edu	36	15	97487157	97487157	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:97487157C>A	uc002bup.1	+	c.1069C>A	c.(1069-1071)CTA>ATA	p.L357I	SYNM_uc002buo.1_Missense_Mutation_p.L357I|SYNM_uc002buq.1_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	357	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						Pancreas(125;1071 1762 21750 40003 40381)								0.397321	227.895563	229.970551	89	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97487157	97487157	15976	15	C	A	A	32	32	SYNM	A	3	3
SYNM	23336	broad.mit.edu	36	15	97487355	97487355	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:97487355A>G	uc002bup.1	+	c.1267A>G	c.(1267-1269)ACC>GCC	p.T423A	SYNM_uc002buo.1_Missense_Mutation_p.T423A|SYNM_uc002buq.1_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	423	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						Pancreas(125;1071 1762 21750 40003 40381)								0.392405	197.227921	198.825379	62	96	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97487355	97487355	15976	15	A	G	G	2	2	SYNM	G	4	4
SYNM	23336	broad.mit.edu	36	15	97487734	97487734	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:97487734C>T	uc002bup.1	+	c.1646C>T	c.(1645-1647)GCG>GTG	p.A549V	SYNM_uc002buo.1_Missense_Mutation_p.A549V|SYNM_uc002buq.1_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	549	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						Pancreas(125;1071 1762 21750 40003 40381)								0.411765	36.339414	36.571577	14	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97487734	97487734	15976	15	C	T	T	27	27	SYNM	T	1	1
LYSMD4	145748	broad.mit.edu	36	15	98087348	98087348	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:98087348C>A	uc002bvl.1	-	c.397G>T	c.(397-399)GAA>TAA	p.E133*	LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvk.1_Nonsense_Mutation_p.E132*|LYSMD4_uc002bvm.1_3'UTR|LYSMD4_uc010bov.1_Nonsense_Mutation_p.E132*	NM_152449	NP_689662	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain	132	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)													0.438849	162.939104	163.394487	61	78	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		Nonsense_Mutation	SNP	98087348	98087348	9504	15	C	A	A	32	32	LYSMD4	A	5	3
ADAMTS17	170691	broad.mit.edu	36	15	98350899	98350899	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:98350899C>A	uc002bvv.1	-	c.2826G>T	c.(2824-2826)TGG>TGT	p.W942C		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	942	TSP type-1 4.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)													0.377049	115.104576	116.728344	46	76	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	Missense_Mutation	SNP	98350899	98350899	263	15	C	A	A	30	30	ADAMTS17	A	3	3
ALDH1A3	220	broad.mit.edu	36	15	99250281	99250281	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99250281T>G	uc002bwn.2	+	c.389T>G	c.(388-390)TTT>TGT	p.F130C	ALDH1A3_uc010bpb.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	130					oxidation-reduction process|retinal metabolic process	cytoplasm	protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)				NADH(DB00157)|Vitamin A(DB00162)									0.414474	204.520826	205.485248	63	89	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Missense_Mutation	SNP	99250281	99250281	495	15	T	G	G	64	64	ALDH1A3	G	4	4
LRRK1	79705	broad.mit.edu	36	15	99346467	99346467	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99346467C>T	uc002bwr.1	+	c.539C>T	c.(538-540)CCG>CTG	p.P180L	LRRK1_uc002bwq.1_Missense_Mutation_p.P180L	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	180	ANK 3.				protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)									1100				0.413462	119.507656	120.186837	43	61	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Missense_Mutation	SNP	99346467	99346467	9408	15	C	T	T	23	23	LRRK1	T	1	1
LRRK1	79705	broad.mit.edu	36	15	99383829	99383829	+	Missense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99383829C>G	uc002bwr.1	+	c.2369C>G	c.(2368-2370)GCC>GGC	p.A790G		NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	790	Roc.				protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)									1100				0.333333	61.718142	63.175455	20	40	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Missense_Mutation	SNP	99383829	99383829	9408	15	C	G	G	26	26	LRRK1	G	3	3
LRRK1	79705	broad.mit.edu	36	15	99409461	99409461	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99409461C>T	uc002bwr.1	+	c.3462C>T	c.(3460-3462)GAC>GAT	p.D1154D	LRRK1_uc002bws.1_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1154					protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)								p.D1154D(HEC6-Tumor)	1100				0.342105	65.423182	67.099033	26	50	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Silent	SNP	99409461	99409461	9408	15	C	T	T	19	19	LRRK1	T	1	1
LRRK1	79705	broad.mit.edu	36	15	99409599	99409599	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99409599G>T	uc002bwr.1	+	c.3600G>T	c.(3598-3600)CGG>CGT	p.R1200R	LRRK1_uc002bws.1_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1200					protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)									1100				0.383333	59.107394	59.824331	23	37	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Silent	SNP	99409599	99409599	9408	15	G	T	T	43	43	LRRK1	T	3	3
LRRK1	79705	broad.mit.edu	36	15	99414691	99414691	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99414691C>T	uc002bwr.1	+	c.4440C>T	c.(4438-4440)ATC>ATT	p.I1480I	LRRK1_uc002bws.1_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1480	Protein kinase.				protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)									1100				0.3125	109.713705	114.225918	45	99	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Silent	SNP	99414691	99414691	9408	15	C	T	T	30	30	LRRK1	T	2	2
LRRK1	79705	broad.mit.edu	36	15	99424382	99424382	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99424382T>C	uc002bwr.1	+	c.5783T>C	c.(5782-5784)GTT>GCT	p.V1928A	LRRK1_uc002bws.1_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1928					protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)									1100				0.478114	461.276047	461.401901	142	155	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Missense_Mutation	SNP	99424382	99424382	9408	15	T	C	C	60	60	LRRK1	C	4	4
CHSY1	22856	broad.mit.edu	36	15	99535983	99535983	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99535983G>A	uc002bwt.1	-	c.1542C>T	c.(1540-1542)CTC>CTT	p.L514L		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	carbohydrate (chondroitin) synthase 1	514	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)													0.380165	122.6133	124.139927	46	75	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Silent	SNP	99535983	99535983	3546	15	G	A	A	37	37	CHSY1	A	1	1
PCSK6	5046	broad.mit.edu	36	15	99665002	99665002	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99665002C>A	uc002bwy.1	-	c.2751G>T	c.(2749-2751)AGG>AGT	p.R917S	PCSK6_uc010bpd.1_Missense_Mutation_p.R713S|PCSK6_uc010bpe.1_Missense_Mutation_p.R904S	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	917	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)													0.414634	48.067795	48.328473	17	24	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Missense_Mutation	SNP	99665002	99665002	12025	15	C	A	A	18	18	PCSK6	A	3	3
GRIN2A	2903	broad.mit.edu	36	16	10181750	10181750	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10181750C>T	uc002czp.1	-	c.20G>A	c.(19-21)TGG>TAG	p.W7*	GRIN2A_uc002czq.1_Nonsense_Mutation_p.W7*|GRIN2A_uc002czr.2_Nonsense_Mutation_p.W7*|GRIN2A_uc010buk.1_Nonsense_Mutation_p.W7*	NM_000833	NP_000824	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	7					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			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.188679	17.822446	22.628674	10	43	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	10181750	10181750	7058	16	C	T	T	21	21	GRIN2A	T	5	2
ATF7IP2	80063	broad.mit.edu	36	16	10482267	10482267	+	Missense_Mutation	SNP	C	T	T	rs34834862	by-cluster,by-frequency	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10482267C>T	uc002czu.1	+	c.1580C>T	c.(1579-1581)TCG>TTG	p.S527L	ATF7IP2_uc002czv.1_Nonsense_Mutation_p.R505*|ATF7IP2_uc002czw.1_Missense_Mutation_p.S527L|ATF7IP2_uc010bul.1_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0														0.438247	313.606738	314.441879	110	141	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10482267	10482267	1107	16	C	T	T	31	31	ATF7IP2	T	1	1
TEKT5	146279	broad.mit.edu	36	16	10696145	10696145	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10696145C>T	uc002czz.1	-	c.87G>A	c.(85-87)GCG>GCA	p.A29A		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	29					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2														0.397849	96.757412	97.605161	37	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	10696145	10696145	16283	16	C	T	T	27	27	TEKT5	T	1	1
NUBP1	4682	broad.mit.edu	36	16	10762764	10762764	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10762764C>T	uc002daa.1	+	c.649C>T	c.(649-651)CGC>TGC	p.R217C	NUBP1_uc010bum.1_Missense_Mutation_p.R82C|NUBP1_uc002dab.1_Missense_Mutation_p.R206C|FAM18A_uc010bun.1_Non-coding_Transcript|FAM18A_uc002dad.2_Non-coding_Transcript	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	217					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)	1														0.416107	187.022136	187.937967	62	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10762764	10762764	11120	16	C	T	T	23	23	NUBP1	T	1	1
FAM18A	780776	broad.mit.edu	36	16	10776342	10776342	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10776342G>T	uc010buo.1	-	c.202C>A	c.(202-204)CTC>ATC	p.L68I	FAM18A_uc010bun.1_Non-coding_Transcript|FAM18A_uc002dad.2_Non-coding_Transcript|FAM18A_uc002dae.1_Missense_Mutation_p.L4I|FAM18A_uc002daf.1_Non-coding_Transcript	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	hypothetical protein LOC780776	68	Helical; (Potential).					integral to membrane					0														0.230769	26.269567	29.727191	12	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10776342	10776342	5729	16	G	T	T	34	34	FAM18A	T	3	3
FAM18A	780776	broad.mit.edu	36	16	10819463	10819463	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10819463G>T	uc010buo.1	-	c.87C>A	c.(85-87)ATC>ATA	p.I29I	FAM18A_uc010bun.1_Non-coding_Transcript|FAM18A_uc002dad.2_Intron|FAM18A_uc002daf.1_Non-coding_Transcript	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	hypothetical protein LOC780776	29						integral to membrane					0														0.227273	8.743999	10.269008	5	17	GG		KEEP	---	---	---	---	capture			Silent	SNP	10819463	10819463	5729	16	G	T	T	45	45	FAM18A	T	3	3
CIITA	4261	broad.mit.edu	36	16	10902882	10902882	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10902882G>T	uc002daj.2	+	c.450G>T	c.(448-450)GAG>GAT	p.E150D	CIITA_uc002dag.2_Missense_Mutation_p.E149D|CIITA_uc002dah.2_Missense_Mutation_p.E150D|CIITA_uc010bup.1_Missense_Mutation_p.E149D|CIITA_uc002dai.2_Missense_Mutation_p.E149D|CIITA_uc002dak.2_Missense_Mutation_p.E149D	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	149					interferon-gamma-mediated signaling pathway|negative regulation of collagen biosynthetic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of MHC class II biosynthetic process|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|promoter binding|protein C-terminus binding|protein complex binding|RNA polymerase II transcription factor activity|transcription activator activity|transcription coactivator activity|transcription repressor activity			central_nervous_system(1)	1										532				0.375	107.307499	108.848762	42	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10902882	10902882	3562	16	G	T	T	35	35	CIITA	T	3	3
CIITA	4261	broad.mit.edu	36	16	10904019	10904019	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10904019C>A	uc002daj.2	+	c.635C>A	c.(634-636)CCT>CAT	p.P212H	CIITA_uc002dag.2_Missense_Mutation_p.P211H|CIITA_uc002dah.2_Missense_Mutation_p.P163H|CIITA_uc010bup.1_Missense_Mutation_p.P211H|CIITA_uc002dai.2_Missense_Mutation_p.P211H|CIITA_uc002dak.2_Missense_Mutation_p.P162H	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	211					interferon-gamma-mediated signaling pathway|negative regulation of collagen biosynthetic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of MHC class II biosynthetic process|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|promoter binding|protein C-terminus binding|protein complex binding|RNA polymerase II transcription factor activity|transcription activator activity|transcription coactivator activity|transcription repressor activity			central_nervous_system(1)	1										532				0.194245	51.83658	63.968567	27	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10904019	10904019	3562	16	C	A	A	24	24	CIITA	A	3	3
CIITA	4261	broad.mit.edu	36	16	10917724	10917724	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10917724G>A	uc002daj.2	+	c.2973_splice	c.e15-1	p.D991_splice	CIITA_uc002dai.2_Splice_Site_SNP_p.D990_splice|CIITA_uc002dak.2_Splice_Site_SNP_p.D406_splice	NM_000246	NP_000237			class II transactivator						interferon-gamma-mediated signaling pathway|negative regulation of collagen biosynthetic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of MHC class II biosynthetic process|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|promoter binding|protein C-terminus binding|protein complex binding|RNA polymerase II transcription factor activity|transcription activator activity|transcription coactivator activity|transcription repressor activity			central_nervous_system(1)	1										532				0.19403	27.133874	32.988681	13	54	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	10917724	10917724	3562	16	G	A	A	34	34	CIITA	A	5	2
CLEC16A	23274	broad.mit.edu	36	16	11167831	11167831	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:11167831C>T	uc002dao.1	+	c.2727C>T	c.(2725-2727)AGC>AGT	p.S909S	CLEC16A_uc002dap.1_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	909	Ser-rich.									ovary(1)|central_nervous_system(1)	2														0.4	57.037286	57.518402	22	33	CC		KEEP	---	---	---	---	capture			Silent	SNP	11167831	11167831	3637	16	C	T	T	27	27	CLEC16A	T	1	1
PRM1	5619	broad.mit.edu	36	16	11282574	11282574	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:11282574C>T	uc002dav.1	-	c.23G>A	c.(22-24)CGC>CAC	p.R8H	C16orf75_uc002daq.1_Intron	NM_002761	NP_002752	P04553	HSP1_HUMAN	protamine 1	8					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding				0														0.198068	78.26554	95.833352	41	166	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11282574	11282574	12975	16	C	T	T	27	27	PRM1	T	1	1
ZC3H7A	29066	broad.mit.edu	36	16	11754034	11754034	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:11754034A>G	uc002dbk.1	-	c.2718T>C	c.(2716-2718)ATT>ATC	p.I906I	ZC3H7A_uc002dbl.1_Silent_p.I906I|ZC3H7A_uc002dbh.1_Silent_p.I46I|ZC3H7A_uc002dbi.1_Silent_p.I94I|ZC3H7A_uc002dbj.1_Non-coding_Transcript	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	906	C3H1-type 3.					nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)	3														0.186916	50.950415	60.762633	20	87	AA		KEEP	---	---	---	---	capture			Silent	SNP	11754034	11754034	18160	16	A	G	G	1	1	ZC3H7A	G	4	4
RSL1D1	26156	broad.mit.edu	36	16	11841116	11841116	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:11841116G>T	uc002dbp.1	-	c.1083C>A	c.(1081-1083)TCC>TCA	p.S361S	RSL1D1_uc010buv.1_Silent_p.S360S	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	361					regulation of protein localization|RNA processing|translation	nucleolus|ribosome	protein binding|RNA binding|structural constituent of ribosome				0														0.188679	215.566656	263.576273	100	430	GG		KEEP	---	---	---	---	capture			Silent	SNP	11841116	11841116	14180	16	G	T	T	39	39	RSL1D1	T	3	3
CACNA1H	8912	broad.mit.edu	36	16	1197806	1197806	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1197806G>T	uc002cks.1	+	c.3099G>T	c.(3097-3099)AAG>AAT	p.K1033N	CACNA1H_uc002ckt.1_Missense_Mutation_p.K1033N|CACNA1H_uc002cku.1_5'Flank|CACNA1H_uc010brj.1_5'Flank|CACNA1H_uc002ckv.1_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1033	Cytoplasmic (Potential).				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.235294	8.689983	9.7806	4	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1197806	1197806	2661	16	G	T	T	33	33	CACNA1H	T	3	3
RUNDC2A	84127	broad.mit.edu	36	16	12004394	12004394	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:12004394G>A	uc002dbw.1	+	c.115G>A	c.(115-117)GAC>AAC	p.D39N		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	39	RUN.									ovary(1)	1														0.222222	86.011706	98.786193	40	140	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12004394	12004394	14223	16	G	A	A	37	37	RUNDC2A	A	1	1
CACNA1H	8912	broad.mit.edu	36	16	1200616	1200616	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1200616C>A	uc002cks.1	+	c.4002C>A	c.(4000-4002)ATC>ATA	p.I1334I	CACNA1H_uc002ckt.1_Silent_p.I1334I|CACNA1H_uc002cku.1_Silent_p.I40I|CACNA1H_uc010brj.1_Silent_p.I40I|CACNA1H_uc002ckv.1_Silent_p.I40I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1334	Helical; Name=S2 of repeat III; (Potential).|III.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.404762	43.26204	43.596097	17	25	CC		KEEP	---	---	---	---	capture			Silent	SNP	1200616	1200616	2661	16	C	A	A	32	32	CACNA1H	A	3	3
CACNA1H	8912	broad.mit.edu	36	16	1200890	1200890	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1200890G>A	uc002cks.1	+	c.4141G>A	c.(4141-4143)GTG>ATG	p.V1381M	CACNA1H_uc002ckt.1_Missense_Mutation_p.V1381M|CACNA1H_uc002cku.1_Missense_Mutation_p.V87M|CACNA1H_uc010brj.1_Missense_Mutation_p.V87M|CACNA1H_uc002ckv.1_Missense_Mutation_p.V87M	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1381	Helical; Name=S3 of repeat III; (Potential).|III.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.218579	81.151521	94.475746	40	143	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1200890	1200890	2661	16	G	A	A	40	40	CACNA1H	A	1	1
CACNA1H	8912	broad.mit.edu	36	16	1201749	1201749	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1201749G>T	uc002cks.1	+	c.4509G>T	c.(4507-4509)AAG>AAT	p.K1503N	CACNA1H_uc002ckt.1_Missense_Mutation_p.K1503N|CACNA1H_uc002cku.1_Missense_Mutation_p.K209N|CACNA1H_uc010brj.1_Missense_Mutation_p.K209N|CACNA1H_uc002ckv.1_Missense_Mutation_p.K209N	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1503	Extracellular (Potential).|III.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.418803	130.830249	131.508381	49	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1201749	1201749	2661	16	G	T	T	35	35	CACNA1H	T	3	3
CACNA1H	8912	broad.mit.edu	36	16	1202131	1202131	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1202131G>T	uc002cks.1	+	c.4751G>T	c.(4750-4752)AGG>ATG	p.R1584M	CACNA1H_uc002ckt.1_Missense_Mutation_p.R1584M|CACNA1H_uc002cku.1_Missense_Mutation_p.R290M|CACNA1H_uc010brj.1_Missense_Mutation_p.R290M|CACNA1H_uc002ckv.1_Missense_Mutation_p.R290M	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1584	Cytoplasmic (Potential).|Poly-Arg.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.361702	44.157849	44.950692	17	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1202131	1202131	2661	16	G	T	T	35	35	CACNA1H	T	3	3
RUNDC2A	84127	broad.mit.edu	36	16	12047783	12047783	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:12047783G>T	uc002dbw.1	+	c.470G>T	c.(469-471)AGG>ATG	p.R157M		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	157	RUN.									ovary(1)	1														0.206522	38.673814	46.020264	19	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12047783	12047783	14223	16	G	T	T	35	35	RUNDC2A	T	3	3
CACNA1H	8912	broad.mit.edu	36	16	1205365	1205365	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1205365G>A	uc002cks.1	+	c.5162G>A	c.(5161-5163)CGC>CAC	p.R1721H	CACNA1H_uc002ckt.1_Missense_Mutation_p.R1715H|CACNA1H_uc002cku.1_Missense_Mutation_p.R427H|CACNA1H_uc010brj.1_Missense_Mutation_p.R432H|CACNA1H_uc002ckv.1_Missense_Mutation_p.R421H	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1721	Helical; Name=S4 of repeat IV; (Potential).|IV.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.227273	10.562592	12.065572	5	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1205365	1205365	2661	16	G	A	A	38	38	CACNA1H	A	1	1
TPSD1	23430	broad.mit.edu	36	16	1248163	1248163	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1248163G>T	uc002clb.1	+	c.623G>T	c.(622-624)AGC>ATC	p.S208I	TPSD1_uc010brm.1_Missense_Mutation_p.S137I	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	208	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)												0.257143	20.056007	21.929468	9	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1248163	1248163	16969	16	G	T	T	34	34	TPSD1	T	3	3
CPPED1	55313	broad.mit.edu	36	16	12706369	12706369	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:12706369G>A	uc002dca.2	-	c.328C>T	c.(328-330)CGA>TGA	p.R110*	CPPED1_uc002dcb.2_Intron|CPPED1_uc002dbz.2_Non-coding_Transcript	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	hypothetical protein LOC55313 isoform a	110							hydrolase activity|metal ion binding				0														0.509934	211.777861	211.791431	77	74	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	12706369	12706369	3960	16	G	A	A	38	38	CPPED1	A	5	1
ERCC4	2072	broad.mit.edu	36	16	13937055	13937055	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:13937055C>T	uc002dce.2	+	c.1765C>T	c.(1765-1767)CGG>TGG	p.R589W		NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	589					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(3)|pancreas(1)	4										153				0.472222	291.425549	291.570787	102	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13937055	13937055	5408	16	C	T	T	31	31	ERCC4	T	1	1
C16orf91	283951	broad.mit.edu	36	16	1409959	1409959	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1409959G>T	uc002cls.1	-	c.1057C>A	c.(1057-1059)CTT>ATT	p.L353I	C16orf91_uc002clr.2_3'UTR	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	hypothetical protein LOC283951	Error:Variant_position_missing_in_Q4G0I0_after_alignment						integral to membrane					0														0.178378	56.395718	74.391224	33	152	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1409959	1409959	1897	16	G	T	T	33	33	C16orf91	T	3	3
MKL2	57496	broad.mit.edu	36	16	14235559	14235559	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:14235559A>G	uc002dcg.1	+	c.749A>G	c.(748-750)GAT>GGT	p.D250G	MKL2_uc002dch.2_Missense_Mutation_p.D239G|MKL2_uc002dci.1_5'UTR	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	239					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5														0.449814	390.178443	390.762225	121	148	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14235559	14235559	9992	16	A	G	G	12	12	MKL2	G	4	4
CLCN7	1186	broad.mit.edu	36	16	1445235	1445235	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1445235G>T	uc002clv.2	-	c.999C>A	c.(997-999)ATC>ATA	p.I333I	CLCN7_uc002clw.2_Silent_p.I309I	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	333	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(1)	1		Hepatocellular(780;0.0893)												0.405941	212.183801	213.752368	82	120	GG		KEEP	---	---	---	---	capture			Silent	SNP	1445235	1445235	3604	16	G	T	T	33	33	CLCN7	T	3	3
CLCN7	1186	broad.mit.edu	36	16	1445733	1445733	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1445733G>A	uc002clv.2	-	c.981C>T	c.(979-981)ATC>ATT	p.I327I	CLCN7_uc002clw.2_Silent_p.I303I	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	327	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(1)	1		Hepatocellular(780;0.0893)												0.342105	67.330761	69.003008	26	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	1445733	1445733	3604	16	G	A	A	37	37	CLCN7	A	1	1
TELO2	9894	broad.mit.edu	36	16	1484474	1484474	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1484474G>A	uc002cly.1	+	c.191G>A	c.(190-192)AGA>AAA	p.R64K		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	64						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)										OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.400641	342.007006	344.700969	125	187	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1484474	1484474	16284	16	G	A	A	33	33	TELO2	A	2	2
PDXDC1	23042	broad.mit.edu	36	16	15017490	15017490	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:15017490C>T	uc002dda.2	+	c.731C>T	c.(730-732)ACG>ATG	p.T244M	PDXDC1_uc002ddc.2_Missense_Mutation_p.T244M|PDXDC1_uc002dcz.2_Missense_Mutation_p.T221M|PDXDC1_uc002ddb.2_Missense_Mutation_p.T217M	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	244					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)									0.144385	37.391834	60.168017	27	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15017490	15017490	12117	16	C	T	T	19	19	PDXDC1	T	1	1
IFT140	9742	broad.mit.edu	36	16	1510724	1510724	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1510724G>T	uc002cma.1	-	c.3540C>A	c.(3538-3540)TCC>TCA	p.S1180S	IFT140_uc002cmb.1_Silent_p.S1180S|IFT140_uc002clz.1_Silent_p.S390S	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1180										ovary(3)|pancreas(1)	4		Hepatocellular(780;0.219)												0.254545	30.218621	33.230319	14	41	GG		KEEP	---	---	---	---	capture			Silent	SNP	1510724	1510724	7857	16	G	T	T	35	35	IFT140	T	3	3
IFT140	9742	broad.mit.edu	36	16	1554110	1554110	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1554110G>A	uc002cma.1	-	c.1956C>T	c.(1954-1956)TTC>TTT	p.F652F	IFT140_uc002cmb.1_Silent_p.F652F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	652										ovary(3)|pancreas(1)	4		Hepatocellular(780;0.219)												0.413333	172.409755	173.39668	62	88	GG		KEEP	---	---	---	---	capture			Silent	SNP	1554110	1554110	7857	16	G	A	A	33	33	IFT140	A	2	2
IFT140	9742	broad.mit.edu	36	16	1558301	1558301	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1558301G>A	uc002cma.1	-	c.1688C>T	c.(1687-1689)GCG>GTG	p.A563V	IFT140_uc002cmb.1_Missense_Mutation_p.A563V	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	563										ovary(3)|pancreas(1)	4		Hepatocellular(780;0.219)												0.486486	99.922578	99.932826	36	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1558301	1558301	7857	16	G	A	A	38	38	IFT140	A	1	1
C16orf45	89927	broad.mit.edu	36	16	15584517	15584517	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:15584517G>A	uc002ddo.1	+	c.423G>A	c.(421-423)GAG>GAA	p.E141E	C16orf45_uc002ddp.1_Silent_p.E114E	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	hypothetical protein LOC89927 isoform 1	141										ovary(1)	1														0.411552	345.491254	347.38624	114	163	GG		KEEP	---	---	---	---	capture			Silent	SNP	15584517	15584517	1866	16	G	A	A	34	34	C16orf45	A	2	2
KIAA0430	9665	broad.mit.edu	36	16	15637432	15637432	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:15637432G>A	uc002ddr.1	-	c.413C>T	c.(412-414)TCG>TTG	p.S138L	KIAA0430_uc002ddq.1_Missense_Mutation_p.S137L	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	137						peroxisome	nucleotide binding|RNA binding				0														0.423977	398.398545	400.126117	145	197	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15637432	15637432	8484	16	G	A	A	37	37	KIAA0430	A	1	1
HBM	3042	broad.mit.edu	36	16	156473	156473	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:156473T>C	uc002cfu.1	+	c.297_splice	c.e2+2	p.P99_splice		NM_001003938	NP_001003938			hemoglobin mu chain							hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)												0.266667	10.394556	11.13145	4	11	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	156473	156473	7266	16	T	C	C	59	59	HBM	C	5	4
NDE1	54820	broad.mit.edu	36	16	15668643	15668643	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:15668643G>T	uc002ddt.1	+	c.84_splice	c.e2-1	p.R28_splice	NDE1_uc002dds.1_Splice_Site_SNP_p.R28_splice	NM_017668	NP_060138			nuclear distribution gene E homolog 1						cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1										8				0.383234	169.649671	171.649504	64	103	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	15668643	15668643	10642	16	G	T	T	35	35	NDE1	T	5	3
IFT140	9742	broad.mit.edu	36	16	1574270	1574270	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1574270G>A	uc002cma.1	-	c.1308C>T	c.(1306-1308)GTC>GTT	p.V436V	IFT140_uc002cmb.1_Silent_p.V436V	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	436										ovary(3)|pancreas(1)	4		Hepatocellular(780;0.219)												0.428571	90.660532	91.003255	33	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	1574270	1574270	7857	16	G	A	A	37	37	IFT140	A	1	1
MYH11	4629	broad.mit.edu	36	16	15743122	15743122	+	Missense_Mutation	SNP	G	A	A	rs35035518	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:15743122G>A	uc002ddx.1	-	c.2669C>T	c.(2668-2670)TCG>TTG	p.S890L	MYH11_uc002ddv.1_Missense_Mutation_p.S890L|MYH11_uc002ddw.1_Missense_Mutation_p.S883L|MYH11_uc002ddy.1_Missense_Mutation_p.S883L|MYH11_uc010bvg.1_Missense_Mutation_p.S715L	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	883	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.237792	247.755502	277.354936	112	359	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15743122	15743122	10426	16	G	A	A	37	37	MYH11	A	1	1
IFT140	9742	broad.mit.edu	36	16	1574349	1574349	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1574349G>A	uc002cma.1	-	c.1229C>T	c.(1228-1230)TCG>TTG	p.S410L	IFT140_uc002cmb.1_Missense_Mutation_p.S410L	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	410										ovary(3)|pancreas(1)	4		Hepatocellular(780;0.219)												0.203704	20.794509	25.197569	11	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1574349	1574349	7857	16	G	A	A	37	37	IFT140	A	1	1
ABCC1	4363	broad.mit.edu	36	16	16011140	16011140	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:16011140G>T	uc010bvi.1	+	c.232G>T	c.(232-234)GGA>TGA	p.G78*	ABCC1_uc010bvj.1_Nonsense_Mutation_p.G78*|ABCC1_uc010bvk.1_Nonsense_Mutation_p.G78*|ABCC1_uc010bvl.1_Nonsense_Mutation_p.G78*|ABCC1_uc010bvm.1_Nonsense_Mutation_p.G78*|ABCC1_uc002del.2_5'UTR	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	78	Helical; Name=2.				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)									0.233115	232.193347	262.127888	107	352	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	16011140	16011140	50	16	G	T	T	43	43	ABCC1	T	5	3
ABCC1	4363	broad.mit.edu	36	16	16112897	16112897	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:16112897G>A	uc010bvi.1	+	c.3036G>A	c.(3034-3036)ACG>ACA	p.T1012T	ABCC1_uc010bvj.1_Silent_p.T953T|ABCC1_uc010bvk.1_Silent_p.T956T|ABCC1_uc010bvl.1_Silent_p.T1012T|ABCC1_uc010bvm.1_Silent_p.T897T|ABCC1_uc002del.2_Silent_p.T906T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1012	Extracellular.|ABC transmembrane type-1 2.				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)									0.133333	14.433645	26.184745	12	78	GG		KEEP	---	---	---	---	capture			Silent	SNP	16112897	16112897	50	16	G	A	A	37	37	ABCC1	A	1	1
ABCC1	4363	broad.mit.edu	36	16	16135710	16135710	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:16135710C>T	uc010bvi.1	+	c.3969C>T	c.(3967-3969)GTC>GTT	p.V1323V	ABCC1_uc010bvj.1_Silent_p.V1264V|ABCC1_uc010bvk.1_Silent_p.V1267V|ABCC1_uc010bvl.1_Silent_p.V1323V|ABCC1_uc010bvm.1_Silent_p.V1208V|ABCC1_uc002del.2_Silent_p.V1217V	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1323	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)									0.19863	111.685053	136.380781	58	234	CC		KEEP	---	---	---	---	capture			Silent	SNP	16135710	16135710	50	16	C	T	T	31	31	ABCC1	T	1	1
ABCC6	368	broad.mit.edu	36	16	16160894	16160894	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:16160894C>A	uc002den.2	-	c.3681G>T	c.(3679-3681)GAG>GAT	p.E1227D	ABCC6_uc010bvo.1_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1227	Cytoplasmic (By similarity).|ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(1)	1														0.181102	38.437006	50.590429	23	104	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Missense_Mutation	SNP	16160894	16160894	58	16	C	A	A	32	32	ABCC6	A	3	3
ABCC6	368	broad.mit.edu	36	16	16210177	16210177	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:16210177C>A	uc002den.2	-	c.703G>T	c.(703-705)GAC>TAC	p.D235Y	ABCC6_uc010bvo.1_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	235	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(1)	1														0.263566	73.880592	80.41089	34	95	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Missense_Mutation	SNP	16210177	16210177	58	16	C	A	A	32	32	ABCC6	A	3	3
XYLT1	64131	broad.mit.edu	36	16	17142702	17142702	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:17142702G>A	uc002dfa.1	-	c.1396C>T	c.(1396-1398)CGG>TGG	p.R466W		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	466	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.272222	113.690164	122.115061	49	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17142702	17142702	18046	16	G	A	A	37	37	XYLT1	A	1	1
XYLT1	64131	broad.mit.edu	36	16	17260685	17260685	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:17260685G>T	uc002dfa.1	-	c.574C>A	c.(574-576)CTT>ATT	p.L192I		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	192	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.444724	490.39307	491.453398	177	221	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17260685	17260685	18046	16	G	T	T	34	34	XYLT1	T	3	3
MAPK8IP3	23162	broad.mit.edu	36	16	1757165	1757165	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1757165C>A	uc002cmk.1	+	c.3100C>A	c.(3100-3102)CTG>ATG	p.L1034M	MAPK8IP3_uc002cml.1_Missense_Mutation_p.L1028M	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1034					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			central_nervous_system(1)	1														0.374545	255.720153	259.532373	103	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1757165	1757165	9669	16	C	A	A	32	32	MAPK8IP3	A	3	3
MAPK8IP3	23162	broad.mit.edu	36	16	1758616	1758616	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1758616G>A	uc002cmk.1	+	c.3877G>A	c.(3877-3879)GAC>AAC	p.D1293N	MAPK8IP3_uc002cml.1_Missense_Mutation_p.D1287N	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1293					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			central_nervous_system(1)	1														0.416667	23.624677	23.773957	10	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1758616	1758616	9669	16	G	A	A	37	37	MAPK8IP3	A	1	1
HAGH	3029	broad.mit.edu	36	16	1809941	1809941	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1809941G>A	uc002cna.1	-	c.390C>T	c.(388-390)ATC>ATT	p.I130I	HAGH_uc002cmz.1_Silent_p.I82I|HAGH_uc002cnb.1_Silent_p.I82I|HAGH_uc010bry.1_Silent_p.I130I	NM_005326	NP_001035517	Q16775	GLO2_HUMAN	hydroxyacyl glutathione hydrolase isoform 1	130					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	Pancreas(55;1048 1176 25227 40124 41333)								0.214286	36.806826	43.138469	18	66	GG		KEEP	---	---	---	---	capture			Silent	SNP	1809941	1809941	7227	16	G	A	A	37	37	HAGH	A	1	1
SMG1	23049	broad.mit.edu	36	16	18761207	18761207	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:18761207G>T	uc002dfm.1	-	c.6290C>A	c.(6289-6291)CCA>CAA	p.P2097Q	SMG1_uc010bwa.1_Missense_Mutation_p.P828Q|SMG1_uc010bwb.1_Missense_Mutation_p.P1957Q|SMG1_uc002dfo.2_Missense_Mutation_p.P395Q	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2097					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.419847	149.291578	150.028304	55	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18761207	18761207	15293	16	G	T	T	47	47	SMG1	T	3	3
SMG1	23049	broad.mit.edu	36	16	18773695	18773695	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:18773695C>T	uc002dfm.1	-	c.4267G>A	c.(4267-4269)GAA>AAA	p.E1423K	SMG1_uc010bwa.1_Missense_Mutation_p.E154K|SMG1_uc010bwb.1_Missense_Mutation_p.E1283K	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1423	FAT.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.20332	102.218788	121.939758	49	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18773695	18773695	15293	16	C	T	T	30	30	SMG1	T	2	2
SMG1	23049	broad.mit.edu	36	16	18779524	18779524	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:18779524G>T	uc002dfm.1	-	c.3771C>A	c.(3769-3771)ATC>ATA	p.I1257I	SMG1_uc010bwa.1_5'UTR|SMG1_uc010bwb.1_Silent_p.I1117I	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1257	FAT.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.166667	6.883327	9.413414	4	20	GG		KEEP	---	---	---	---	capture			Silent	SNP	18779524	18779524	15293	16	G	T	T	45	45	SMG1	T	3	3
SMG1	23049	broad.mit.edu	36	16	18788724	18788724	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:18788724G>T	uc002dfm.1	-	c.2586C>A	c.(2584-2586)TTC>TTA	p.F862L	SMG1_uc010bwb.1_Missense_Mutation_p.F722L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	862					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.218182	23.265334	27.297064	12	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18788724	18788724	15293	16	G	T	T	33	33	SMG1	T	3	3
SMG1	23049	broad.mit.edu	36	16	18795105	18795105	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:18795105T>C	uc002dfm.1	-	c.1732A>G	c.(1732-1734)AAC>GAC	p.N578D	SMG1_uc010bwb.1_Missense_Mutation_p.N438D	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	578					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.44586	206.327139	206.727854	70	87	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18795105	18795105	15293	16	T	C	C	63	63	SMG1	C	4	4
SMG1	23049	broad.mit.edu	36	16	18801023	18801023	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:18801023G>A	uc002dfm.1	-	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W	SMG1_uc010bwb.1_Missense_Mutation_p.R280W	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	420					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.309524	32.557916	33.916561	13	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18801023	18801023	15293	16	G	A	A	37	37	SMG1	A	1	1
LUC7L	55692	broad.mit.edu	36	16	189119	189119	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:189119G>A	uc002cgc.1	-	c.630C>T	c.(628-630)TTC>TTT	p.F210F	LUC7L_uc002cga.1_Silent_p.F210F|LUC7L_uc002cgb.1_Silent_p.F124F|LUC7L_uc002cgd.1_Non-coding_Transcript|LUC7L_uc002cge.1_Silent_p.F210F	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	210	C2H2-type; atypical.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)												0.225941	117.018116	133.511745	54	185	GG		KEEP	---	---	---	---	capture			Silent	SNP	189119	189119	9458	16	G	A	A	37	37	LUC7L	A	1	1
TMC7	79905	broad.mit.edu	36	16	18940567	18940567	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:18940567G>A	uc002dfp.1	+	c.576G>A	c.(574-576)ACG>ACA	p.T192T	TMC7_uc002dfq.1_Silent_p.T192T	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	192	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1														0.391705	232.415294	234.647161	85	132	GG		KEEP	---	---	---	---	capture			Silent	SNP	18940567	18940567	16520	16	G	A	A	37	37	TMC7	A	1	1
ITPRIPL2	162073	broad.mit.edu	36	16	19034168	19034168	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:19034168G>A	uc002dfu.2	+	c.884G>A	c.(883-885)CGC>CAC	p.R295H	ITPRIPL2_uc002dft.1_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	295	Cytoplasmic (Potential).					integral to membrane					0												OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.25	110.127416	122.353996	54	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19034168	19034168	8229	16	G	A	A	38	38	ITPRIPL2	A	1	1
TMC5	79838	broad.mit.edu	36	16	19382628	19382628	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:19382628G>A	uc002dgc.2	+	c.1266G>A	c.(1264-1266)TCG>TCA	p.S422S	TMC5_uc002dgb.2_Silent_p.S422S|TMC5_uc002dgd.1_Silent_p.S176S|TMC5_uc002dge.2_Silent_p.S176S|TMC5_uc002dgf.2_Silent_p.S105S|TMC5_uc002dgg.2_Silent_p.S63S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	422	Extracellular (Potential).					integral to membrane					0														0.211538	72.988366	84.993167	33	123	GG		KEEP	---	---	---	---	capture			Silent	SNP	19382628	19382628	16518	16	G	A	A	39	39	TMC5	A	1	1
TMC5	79838	broad.mit.edu	36	16	19393073	19393073	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:19393073G>A	uc002dgc.2	+	c.2064G>A	c.(2062-2064)CGG>CGA	p.R688R	TMC5_uc002dgb.2_Silent_p.R688R|TMC5_uc002dgd.1_Silent_p.R442R|TMC5_uc002dge.2_Silent_p.R442R|TMC5_uc002dgf.2_Silent_p.R371R|TMC5_uc002dgg.2_Silent_p.R329R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	688	Cytoplasmic (Potential).					integral to membrane					0														0.219178	128.674119	149.879252	64	228	GG		KEEP	---	---	---	---	capture			Silent	SNP	19393073	19393073	16518	16	G	A	A	42	42	TMC5	A	2	2
RPL3L	6123	broad.mit.edu	36	16	1940897	1940897	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1940897G>A	uc002cnh.1	-	c.450C>T	c.(448-450)TTC>TTT	p.F150F		NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	150					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0														0.448718	271.078822	271.621417	105	129	GG		KEEP	---	---	---	---	capture			Silent	SNP	1940897	1940897	14073	16	G	A	A	37	37	RPL3L	A	1	1
C16orf62	57020	broad.mit.edu	36	16	19534967	19534967	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:19534967G>T	uc002dgn.1	+	c.1054G>T	c.(1054-1056)GAA>TAA	p.E352*	C16orf62_uc002dgm.1_Nonsense_Mutation_p.E352*|C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Nonsense_Mutation_p.E101*	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	352						integral to membrane				ovary(1)	1														0.185393	57.673425	74.194167	33	145	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19534967	19534967	1878	16	G	T	T	33	33	C16orf62	T	5	3
C16orf62	57020	broad.mit.edu	36	16	19547473	19547473	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:19547473G>A	uc002dgn.1	+	c.1397G>A	c.(1396-1398)CGA>CAA	p.R466Q	C16orf62_uc002dgo.1_Missense_Mutation_p.R399Q|C16orf62_uc002dgp.1_Missense_Mutation_p.R215Q	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	466						integral to membrane				ovary(1)	1														0.418919	436.548044	438.673434	155	215	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19547473	19547473	1878	16	G	A	A	37	37	C16orf62	A	1	1
C16orf88	400506	broad.mit.edu	36	16	19625930	19625930	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:19625930C>T	uc002dgq.1	-	c.1180G>A	c.(1180-1182)GCC>ACC	p.A394T		NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	394	Interaction with ZFP106 (By similarity).					nucleolus					0														0.481283	245.2209	245.278377	90	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19625930	19625930	1894	16	C	T	T	27	27	C16orf88	T	1	1
TBL3	10607	broad.mit.edu	36	16	1965434	1965434	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1965434G>A	uc002cnu.1	+	c.799G>A	c.(799-801)GAC>AAC	p.D267N	TBL3_uc002cnv.1_Missense_Mutation_p.D153N|TBL3_uc010bsb.1_Missense_Mutation_p.D56N|TBL3_uc010bsc.1_Missense_Mutation_p.D153N	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	267	WD 5.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						Melanoma(118;616 1651 35077 38081 48633)								0.451282	243.563593	243.96778	88	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1965434	1965434	16169	16	G	A	A	37	37	TBL3	A	1	1
TBL3	10607	broad.mit.edu	36	16	1968571	1968571	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1968571C>A	uc002cnu.1	+	c.2311C>A	c.(2311-2313)CTC>ATC	p.L771I	TBL3_uc002cnv.1_Missense_Mutation_p.L657I|TBL3_uc010bsc.1_Missense_Mutation_p.L638I|TBL3_uc002cnw.1_Non-coding_Transcript	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	771					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						Melanoma(118;616 1651 35077 38081 48633)								0.209677	53.085973	62.758232	26	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1968571	1968571	16169	16	C	A	A	28	28	TBL3	A	3	3
GFER	2671	broad.mit.edu	36	16	1974816	1974816	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1974816T>C	uc002cob.1	+	c.326T>C	c.(325-327)GTC>GCC	p.V109A	GFER_uc002coc.1_Missense_Mutation_p.V34A	NM_005262	NP_005253	P55789	ALR_HUMAN	erv1-like growth factor	109	ERV/ALR sulfhydryl oxidase.				cell proliferation|oxidation-reduction process|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity				0														0.267176	93.766763	100.192294	35	96	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1974816	1974816	6606	16	T	C	C	58	58	GFER	C	4	4
SYNGR3	9143	broad.mit.edu	36	16	1983002	1983002	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1983002G>T	uc002cod.1	+	c.618G>T	c.(616-618)GAG>GAT	p.E206D		NM_004209	NP_004200	O43761	SNG3_HUMAN	synaptogyrin 3	206					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle					0														0.309091	36.743355	38.53658	17	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1983002	1983002	15971	16	G	T	T	33	33	SYNGR3	T	3	3
UMOD	7369	broad.mit.edu	36	16	20262992	20262992	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20262992T>C	uc002dhb.1	-	c.1285A>G	c.(1285-1287)AAT>GAT	p.N429D	UMOD_uc002dgz.1_Missense_Mutation_p.N396D|UMOD_uc002dha.1_Missense_Mutation_p.N396D	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	396	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.15942	45.574979	60.817435	22	116	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20262992	20262992	17537	16	T	C	C	62	62	UMOD	C	4	4
UMOD	7369	broad.mit.edu	36	16	20267986	20267986	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20267986G>A	uc002dhb.1	-	c.237C>T	c.(235-237)GCC>GCT	p.A79A	UMOD_uc002dgz.1_Silent_p.A46A|UMOD_uc002dha.1_Silent_p.A46A	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	46	EGF-like 1.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.460526	104.515981	104.619129	35	41	GG		KEEP	---	---	---	---	capture			Silent	SNP	20267986	20267986	17537	16	G	A	A	39	39	UMOD	A	1	1
UMOD	7369	broad.mit.edu	36	16	20269514	20269514	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20269514G>A	uc002dhb.1	-	c.47C>T	c.(46-48)TCT>TTT	p.S16F	UMOD_uc002dgz.1_Missense_Mutation_p.S16F|UMOD_uc002dha.1_Missense_Mutation_p.S16F	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	16					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.33871	55.253089	56.680591	21	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20269514	20269514	17537	16	G	A	A	33	33	UMOD	A	2	2
PDILT	204474	broad.mit.edu	36	16	20293686	20293686	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20293686G>A	uc002dhc.1	-	c.640C>T	c.(640-642)CGT>TGT	p.R214C		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	214					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1														0.425856	301.12056	302.364042	112	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20293686	20293686	12095	16	G	A	A	38	38	PDILT	A	1	1
PDILT	204474	broad.mit.edu	36	16	20318007	20318007	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20318007G>A	uc002dhc.1	-	c.117C>T	c.(115-117)ATC>ATT	p.I39I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	39					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1														0.373541	266.404865	269.986606	96	161	GG		KEEP	---	---	---	---	capture			Silent	SNP	20318007	20318007	12095	16	G	A	A	41	41	PDILT	A	2	2
ACSM5	54988	broad.mit.edu	36	16	20349850	20349850	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20349850T>C	uc002dhe.1	+	c.1160T>C	c.(1159-1161)ATC>ACC	p.I387T		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member	387					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2														0.448669	791.757239	792.95997	236	290	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20349850	20349850	188	16	T	C	C	50	50	ACSM5	C	4	4
ACSM2A	123876	broad.mit.edu	36	16	20384544	20384544	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20384544C>T	uc010bwe.1	+	c.382C>T	c.(382-384)CGA>TGA	p.R128*	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc002dhf.2_Nonsense_Mutation_p.R128*|ACSM2A_uc002dhg.2_Nonsense_Mutation_p.R128*	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	128					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)	1														0.1875	34.297829	43.074819	18	78	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	20384544	20384544	184	16	C	T	T	31	31	ACSM2A	T	5	1
ACSM2A	123876	broad.mit.edu	36	16	20388501	20388501	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20388501G>A	uc010bwe.1	+	c.555G>A	c.(553-555)GAG>GAA	p.E185E	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc002dhf.2_Silent_p.E185E|ACSM2A_uc002dhg.2_Silent_p.E185E	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	185					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)	1														0.18	219.312101	277.115399	108	492	GG		KEEP	---	---	---	---	capture			Silent	SNP	20388501	20388501	184	16	G	A	A	33	33	ACSM2A	A	2	2
ACSM2B	348158	broad.mit.edu	36	16	20467246	20467246	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20467246G>A	uc002dhj.2	-	c.945C>T	c.(943-945)TAC>TAT	p.Y315Y	ACSM2B_uc002dhk.2_Silent_p.Y315Y|ACSM2B_uc010bwf.1_Silent_p.Y315Y	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	315					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.403941	232.00727	233.645128	82	121	GG		KEEP	---	---	---	---	capture			Silent	SNP	20467246	20467246	185	16	G	A	A	44	44	ACSM2B	A	2	2
ACSM2B	348158	broad.mit.edu	36	16	20474133	20474133	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20474133C>T	uc002dhj.2	-	c.555G>A	c.(553-555)GAG>GAA	p.E185E	ACSM2B_uc002dhk.2_Silent_p.E185E|ACSM2B_uc010bwf.1_Silent_p.E185E	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	185					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.165367	197.321643	265.45867	106	535	CC		KEEP	---	---	---	---	capture			Silent	SNP	20474133	20474133	185	16	C	T	T	32	32	ACSM2B	T	2	2
ACSM1	116285	broad.mit.edu	36	16	20546018	20546018	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20546018G>A	uc002dhm.1	-	c.1421C>T	c.(1420-1422)GCC>GTC	p.A474V	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.A474V	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	474					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)	1														0.448276	677.247816	678.468133	234	288	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20546018	20546018	183	16	G	A	A	42	42	ACSM1	A	2	2
ACSM1	116285	broad.mit.edu	36	16	20588717	20588717	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20588717G>T	uc002dhm.1	-	c.845C>A	c.(844-846)CCA>CAA	p.P282Q	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P282Q	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	282					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)	1														0.213235	57.78808	68.136786	29	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20588717	20588717	183	16	G	T	T	47	47	ACSM1	T	3	3
ACSM1	116285	broad.mit.edu	36	16	20604116	20604116	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20604116G>A	uc002dhm.1	-	c.303C>T	c.(301-303)GTC>GTT	p.V101V	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.V101V	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	101					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)	1														0.426966	333.891635	335.136507	114	153	GG		KEEP	---	---	---	---	capture			Silent	SNP	20604116	20604116	183	16	G	A	A	33	33	ACSM1	A	2	2
THUMPD1	55623	broad.mit.edu	36	16	20656717	20656717	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20656717G>A	uc002dho.1	-	c.469C>T	c.(469-471)CGA>TGA	p.R157*	THUMPD1_uc002dhp.1_Nonsense_Mutation_p.R157*	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	157	THUMP.										0														0.268139	200.525637	215.918196	85	232	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	20656717	20656717	16410	16	G	A	A	37	37	THUMPD1	A	5	1
THUMPD1	55623	broad.mit.edu	36	16	20657842	20657842	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20657842G>A	uc002dho.1	-	c.284C>T	c.(283-285)GCG>GTG	p.A95V	THUMPD1_uc002dhp.1_Missense_Mutation_p.A95V	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	95											0														0.471774	321.536478	321.709439	117	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20657842	20657842	16410	16	G	A	A	38	38	THUMPD1	A	1	1
ACSM3	6296	broad.mit.edu	36	16	20709458	20709458	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20709458A>G	uc002dhr.1	+	c.1273A>G	c.(1273-1275)ATT>GTT	p.I425V	ERI2_uc002dhs.1_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	425					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1														0.42268	415.703074	417.214721	123	168	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20709458	20709458	186	16	A	G	G	16	16	ACSM3	G	4	4
PKD1	5310	broad.mit.edu	36	16	2080319	2080319	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2080319G>A	uc002cos.1	-	c.12412C>T	c.(12412-12414)CGC>TGC	p.R4138C	PKD1_uc002cot.1_Missense_Mutation_p.R4137C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4138	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(1)	1														0.217778	98.880163	115.388723	49	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2080319	2080319	12387	16	G	A	A	38	38	PKD1	A	1	1
PKD1	5310	broad.mit.edu	36	16	2083649	2083649	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2083649G>A	uc002cos.1	-	c.10913C>T	c.(10912-10914)CCT>CTT	p.P3638L	PKD1_uc002cot.1_Missense_Mutation_p.P3637L|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3638	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(1)	1														0.3	23.261294	24.334686	9	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2083649	2083649	12387	16	G	A	A	35	35	PKD1	A	2	2
DNAH3	55567	broad.mit.edu	36	16	20878106	20878106	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20878106G>A	uc002did.1	-	c.10722C>T	c.(10720-10722)ACC>ACT	p.T3574T	DNAH3_uc002dic.1_Silent_p.T1009T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3574	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.4	406.475333	409.40746	134	201	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Silent	SNP	20878106	20878106	4786	16	G	A	A	35	35	DNAH3	A	2	2
DNAH3	55567	broad.mit.edu	36	16	20882141	20882141	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20882141A>C	uc002did.1	-	c.10566T>G	c.(10564-10566)ATT>ATG	p.I3522M	DNAH3_uc002dic.1_Missense_Mutation_p.I957M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3522	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.153153	35.003652	47.77655	17	94	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	20882141	20882141	4786	16	A	C	C	1	1	DNAH3	C	4	4
DNAH3	55567	broad.mit.edu	36	16	20882555	20882555	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20882555C>A	uc002did.1	-	c.10152G>T	c.(10150-10152)CAG>CAT	p.Q3384H	DNAH3_uc002dic.1_Missense_Mutation_p.Q819H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3384					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.22973	69.06004	78.98497	34	114	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	20882555	20882555	4786	16	C	A	A	32	32	DNAH3	A	3	3
DNAH3	55567	broad.mit.edu	36	16	20883075	20883075	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20883075G>A	uc002did.1	-	c.9632C>T	c.(9631-9633)GCG>GTG	p.A3211V	DNAH3_uc002dic.1_Missense_Mutation_p.A646V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3211	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.4375	367.030002	368.121364	140	180	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	20883075	20883075	4786	16	G	A	A	38	38	DNAH3	A	1	1
DNAH3	55567	broad.mit.edu	36	16	20883157	20883157	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20883157C>A	uc002did.1	-	c.9550G>T	c.(9550-9552)GAA>TAA	p.E3184*	DNAH3_uc002dic.1_Nonsense_Mutation_p.E619*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3184	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.230241	136.552652	155.985557	67	224	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Nonsense_Mutation	SNP	20883157	20883157	4786	16	C	A	A	32	32	DNAH3	A	5	3
DNAH3	55567	broad.mit.edu	36	16	20888713	20888713	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20888713G>A	uc002did.1	-	c.8360C>T	c.(8359-8361)TCG>TTG	p.S2787L	DNAH3_uc002dic.1_Missense_Mutation_p.S222L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2787	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.174242	75.493946	101.941802	46	218	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	20888713	20888713	4786	16	G	A	A	37	37	DNAH3	A	1	1
PKD1	5310	broad.mit.edu	36	16	2089692	2089692	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2089692G>A	uc002cos.1	-	c.10004C>T	c.(10003-10005)CCC>CTC	p.P3335L	PKD1_uc002cot.1_Missense_Mutation_p.P3335L|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3335	Helical; (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(1)	1														0.296296	22.090213	23.091765	8	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2089692	2089692	12387	16	G	A	A	43	43	PKD1	A	2	2
DNAH3	55567	broad.mit.edu	36	16	20906813	20906813	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20906813G>A	uc002did.1	-	c.6677C>T	c.(6676-6678)TCG>TTG	p.S2226L	DNAH3_uc002dic.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2226	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.430556	170.616021	171.223245	62	82	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	20906813	20906813	4786	16	G	A	A	37	37	DNAH3	A	1	1
DNAH3	55567	broad.mit.edu	36	16	20958733	20958733	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20958733C>A	uc002did.1	-	c.4672G>T	c.(4672-4674)GAT>TAT	p.D1558Y		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1558	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.436123	266.468727	267.279748	99	128	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	20958733	20958733	4786	16	C	A	A	32	32	DNAH3	A	3	3
DNAH3	55567	broad.mit.edu	36	16	20973281	20973281	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20973281G>A	uc002did.1	-	c.4000C>T	c.(4000-4002)CGA>TGA	p.R1334*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1334	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.433962	127.034437	127.436797	46	60	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Nonsense_Mutation	SNP	20973281	20973281	4786	16	G	A	A	37	37	DNAH3	A	5	1
PKD1	5310	broad.mit.edu	36	16	2098770	2098770	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2098770G>A	uc002cos.1	-	c.6399C>T	c.(6397-6399)TTC>TTT	p.F2133F	PKD1_uc002cot.1_Silent_p.F2133F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2133	PKD 17.|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(1)	1														0.222222	8.389892	9.668285	4	14	GG		KEEP	---	---	---	---	capture			Silent	SNP	2098770	2098770	12387	16	G	A	A	37	37	PKD1	A	1	1
DNAH3	55567	broad.mit.edu	36	16	21025360	21025360	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21025360C>A	uc002did.1	-	c.2236G>T	c.(2236-2238)GAT>TAT	p.D746Y	DNAH3_uc002die.1_Missense_Mutation_p.D686Y	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	746	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.254386	63.110146	69.360106	29	85	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	21025360	21025360	4786	16	C	A	A	32	32	DNAH3	A	3	3
DNAH3	55567	broad.mit.edu	36	16	21030601	21030601	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21030601C>A	uc002did.1	-	c.1946G>T	c.(1945-1947)AGA>ATA	p.R649I	DNAH3_uc002die.1_Missense_Mutation_p.R589I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	649	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.201681	45.431209	55.278646	24	95	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	21030601	21030601	4786	16	C	A	A	32	32	DNAH3	A	3	3
DNAH3	55567	broad.mit.edu	36	16	21036102	21036102	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21036102G>A	uc002did.1	-	c.1737C>T	c.(1735-1737)AAC>AAT	p.N579N	DNAH3_uc002die.1_Silent_p.N519N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	579	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.150442	23.710648	36.941256	17	96	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Silent	SNP	21036102	21036102	4786	16	G	A	A	40	40	DNAH3	A	1	1
DNAH3	55567	broad.mit.edu	36	16	21044027	21044027	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21044027C>A	uc002did.1	-	c.1374G>T	c.(1372-1374)GAG>GAT	p.E458D	DNAH3_uc002die.1_Missense_Mutation_p.E429D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	458	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.176471	63.560089	83.700815	36	168	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	21044027	21044027	4786	16	C	A	A	24	24	DNAH3	A	3	3
TMEM159	57146	broad.mit.edu	36	16	21092938	21092938	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21092938C>A	uc002dif.2	+	c.372C>A	c.(370-372)GTC>GTA	p.V124V	TMEM159_uc002dig.2_Non-coding_Transcript|TMEM159_uc002dih.2_Silent_p.V124V	NM_020422	NP_065155	Q96B96	TM159_HUMAN	transmembrane protein 159	124						integral to membrane				ovary(1)	1														0.255034	76.449553	84.590851	38	111	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0972)	Silent	SNP	21092938	21092938	16608	16	C	A	A	32	32	TMEM159	A	3	3
ZP2	7783	broad.mit.edu	36	16	21121073	21121073	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21121073G>A	uc010bwn.1	-	c.1257C>T	c.(1255-1257)GTC>GTT	p.V419V	ZP2_uc002dii.2_Silent_p.V380V	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	380	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			ovary(1)|central_nervous_system(1)	2														0.433071	151.783762	152.28303	55	72	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0573)	Silent	SNP	21121073	21121073	18820	16	G	A	A	37	37	ZP2	A	1	1
ANKS4B	257629	broad.mit.edu	36	16	21169212	21169212	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21169212T>C	uc010bwp.1	+	c.824T>C	c.(823-825)GTT>GCT	p.V275A	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	275										ovary(2)	2														0.528	232.358939	232.444294	66	59	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0565)	Missense_Mutation	SNP	21169212	21169212	699	16	T	C	C	60	60	ANKS4B	C	4	4
OTOA	146183	broad.mit.edu	36	16	21606244	21606244	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21606244G>T	uc002djh.1	+	c.409G>T	c.(409-411)GAC>TAC	p.D137Y		NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	137					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1														0.200772	97.242175	118.818817	52	207	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0414)	Missense_Mutation	SNP	21606244	21606244	11714	16	G	T	T	33	33	OTOA	T	3	3
OTOA	146183	broad.mit.edu	36	16	21606458	21606458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21606458C>T	uc002djh.1	+	c.623C>T	c.(622-624)GCC>GTC	p.A208V		NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	208					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1														0.173913	19.967606	26.891807	12	57	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0414)	Missense_Mutation	SNP	21606458	21606458	11714	16	C	T	T	26	26	OTOA	T	2	2
OTOA	146183	broad.mit.edu	36	16	21610441	21610441	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21610441C>T	uc002djh.1	+	c.671C>T	c.(670-672)TCG>TTG	p.S224L		NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	224					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1														0.163462	29.006217	40.201268	17	87	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0414)	Missense_Mutation	SNP	21610441	21610441	11714	16	C	T	T	31	31	OTOA	T	1	1
OTOA	146183	broad.mit.edu	36	16	21610496	21610496	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21610496C>A	uc002djh.1	+	c.726C>A	c.(724-726)TCC>TCA	p.S242S		NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	242					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1														0.25	55.019357	60.707189	25	75	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0414)	Silent	SNP	21610496	21610496	11714	16	C	A	A	24	24	OTOA	A	3	3
OTOA	146183	broad.mit.edu	36	16	21635770	21635770	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21635770A>G	uc002djh.1	+	c.1530A>G	c.(1528-1530)ATA>ATG	p.I510M	OTOA_uc002dji.1_Missense_Mutation_p.I186M	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	524					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1														0.404558	459.60096	462.388783	142	209	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0414)	Missense_Mutation	SNP	21635770	21635770	11714	16	A	G	G	14	14	OTOA	G	4	4
CASKIN1	57524	broad.mit.edu	36	16	2179060	2179060	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2179060C>T	uc010bsg.1	-	c.586G>A	c.(586-588)GCA>ACA	p.A196T		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	196	ANK 5.				signal transduction	cytoplasm					0														0.147059	27.517706	43.793028	20	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2179060	2179060	2785	16	C	T	T	27	27	CASKIN1	T	1	1
UQCRC2	7385	broad.mit.edu	36	16	21881632	21881632	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21881632C>T	uc002djx.1	+	c.439C>T	c.(439-441)CGT>TGT	p.R147C	UQCRC2_uc002djy.1_Missense_Mutation_p.R147C|UQCRC2_uc010bxa.1_Non-coding_Transcript|UQCRC2_uc002djz.1_Missense_Mutation_p.R14C	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein	147					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2						Colon(123;450 1645 12841 25393 45623)								0.454545	298.143964	298.559696	105	126	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0264)	Missense_Mutation	SNP	21881632	21881632	17581	16	C	T	T	31	31	UQCRC2	T	1	1
PDZD9	255762	broad.mit.edu	36	16	21903402	21903402	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21903402C>A	uc002dka.1	-	c.296G>T	c.(295-297)AGA>ATA	p.R99I		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	161										pancreas(1)	1														0.38835	207.630312	209.887066	80	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21903402	21903402	12127	16	C	A	A	32	32	PDZD9	A	3	3
PDZD9	255762	broad.mit.edu	36	16	21907513	21907513	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21907513T>C	uc002dka.1	-	c.126A>G	c.(124-126)CAA>CAG	p.Q42Q		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	104	PDZ.									pancreas(1)	1														0.135294	45.608891	67.517228	23	147	TT		KEEP	---	---	---	---	capture			Silent	SNP	21907513	21907513	12127	16	T	C	C	64	64	PDZD9	C	4	4
MLST8	64223	broad.mit.edu	36	16	2198300	2198300	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2198300G>A	uc002cpg.1	+	c.719G>A	c.(718-720)CGC>CAC	p.R240H	MLST8_uc002coy.2_Missense_Mutation_p.R221H|MLST8_uc002coz.1_Missense_Mutation_p.R221H|MLST8_uc002cpa.1_Missense_Mutation_p.R37H|MLST8_uc002cpb.1_Missense_Mutation_p.R220H|MLST8_uc002cpc.1_Missense_Mutation_p.R221H|MLST8_uc002cpd.1_Missense_Mutation_p.R155H|MLST8_uc002cpe.1_Missense_Mutation_p.R221H|MLST8_uc002cph.1_Intron|MLST8_uc002cpf.1_Missense_Mutation_p.R221H	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	221	WD 6.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0														0.433099	327.265869	328.375259	123	161	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2198300	2198300	10024	16	G	A	A	38	38	MLST8	A	1	1
VWA3A	146177	broad.mit.edu	36	16	22039893	22039893	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:22039893C>A	uc002dkf.2	+	c.641C>A	c.(640-642)TCT>TAT	p.S214Y	VWA3A_uc010bxc.1_Missense_Mutation_p.S394Y|VWA3A_uc010bxd.1_Non-coding_Transcript	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	407						extracellular region				skin(1)	1														0.438272	192.587227	193.127478	71	91	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0439)	Missense_Mutation	SNP	22039893	22039893	17809	16	C	A	A	32	32	VWA3A	A	3	3
EEF2K	29904	broad.mit.edu	36	16	22177445	22177445	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:22177445G>A	uc002dki.1	+	c.1159G>A	c.(1159-1161)GAC>AAC	p.D387N	EEF2K_uc002dkh.2_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	387					insulin receptor signaling pathway|protein phosphorylation|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1						NSCLC(195;1411 2157 20319 27471 51856)				274				0.142857	43.845334	72.227065	33	198	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0223)	Missense_Mutation	SNP	22177445	22177445	5117	16	G	A	A	37	37	EEF2K	A	1	1
EEF2K	29904	broad.mit.edu	36	16	22192536	22192536	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:22192536G>A	uc002dki.1	+	c.1853G>A	c.(1852-1854)CGA>CAA	p.R618Q	EEF2K_uc002dkh.2_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	618	Pseudosubstrate/autoinhibitory domain (Potential).				insulin receptor signaling pathway|protein phosphorylation|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1						NSCLC(195;1411 2157 20319 27471 51856)				274				0.522124	169.720497	169.768299	59	54	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0223)	Missense_Mutation	SNP	22192536	22192536	5117	16	G	A	A	37	37	EEF2K	A	1	1
E4F1	1877	broad.mit.edu	36	16	2224279	2224279	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2224279C>T	uc002cpm.1	+	c.1482C>T	c.(1480-1482)GGC>GGT	p.G494G	DNASE1L2_uc002cpn.1_5'Flank|DNASE1L2_uc002cpo.1_5'Flank|DNASE1L2_uc002cpp.1_5'Flank|DNASE1L2_uc002cpq.1_5'Flank|E4F1_uc010bsi.1_Silent_p.G494G|E4F1_uc010bsj.1_Intron	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	494	Mediates interaction with CDKN2A.|Interaction with BMI1.|C2H2-type 6.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth|regulation of transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1														0.205882	53.72079	64.636658	28	108	CC		KEEP	---	---	---	---	capture			Silent	SNP	2224279	2224279	5060	16	C	T	T	27	27	E4F1	T	1	1
SCNN1G	6340	broad.mit.edu	36	16	23111230	23111230	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23111230C>T	uc002dlm.1	+	c.675C>T	c.(673-675)GCC>GCT	p.A225A		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	225	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)|large_intestine(1)|pancreas(1)	4					Amiloride(DB00594)|Triamterene(DB00384)									0.151832	46.918621	69.075804	29	162	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0366)	Silent	SNP	23111230	23111230	14412	16	C	T	T	21	21	SCNN1G	T	2	2
SCNN1B	6338	broad.mit.edu	36	16	23286770	23286770	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23286770G>T	uc002dln.1	+	c.869G>T	c.(868-870)GGA>GTA	p.G290V		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	290	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7					Amiloride(DB00594)|Triamterene(DB00384)									0.436426	336.258052	337.286228	127	164	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0465)	Missense_Mutation	SNP	23286770	23286770	14410	16	G	T	T	41	41	SCNN1B	T	3	3
SCNN1B	6338	broad.mit.edu	36	16	23299593	23299593	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23299593C>T	uc002dln.1	+	c.1893C>T	c.(1891-1893)ATC>ATT	p.I631I		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	631	Cytoplasmic (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7					Amiloride(DB00594)|Triamterene(DB00384)									0.204724	99.056281	119.613984	52	202	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0465)	Silent	SNP	23299593	23299593	14410	16	C	T	T	31	31	SCNN1B	T	1	1
GGA2	23062	broad.mit.edu	36	16	23407506	23407506	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23407506T>C	uc002dlq.1	-	c.501A>G	c.(499-501)CTA>CTG	p.L167L	GGA2_uc010bxn.1_Silent_p.L167L|GGA2_uc010bxo.1_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	167					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2														0.452128	586.851428	587.595174	170	206	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0386)	Silent	SNP	23407506	23407506	6621	16	T	C	C	57	57	GGA2	C	4	4
GGA2	23062	broad.mit.edu	36	16	23410528	23410528	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23410528C>T	uc002dlq.1	-	c.446G>A	c.(445-447)CGA>CAA	p.R149Q	GGA2_uc010bxn.1_Missense_Mutation_p.R149Q|GGA2_uc010bxo.1_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	149	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2														0.207386	150.521459	178.422239	73	279	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0386)	Missense_Mutation	SNP	23410528	23410528	6621	16	C	T	T	31	31	GGA2	T	1	1
UBFD1	56061	broad.mit.edu	36	16	23478440	23478440	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23478440C>A	uc002dlv.1	+	c.506C>A	c.(505-507)GCT>GAT	p.A169D	EARS2_uc002dls.2_5'Flank|EARS2_uc002dlt.2_5'Flank|EARS2_uc002dlu.2_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	169											0						Melanoma(22;290 1069 22358 48158)								0.215827	63.269655	73.637419	30	109	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0331)	Missense_Mutation	SNP	23478440	23478440	17442	16	C	A	A	28	28	UBFD1	A	3	3
PALB2	79728	broad.mit.edu	36	16	23545063	23545063	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23545063C>T	uc002dlx.1	-	c.2743G>A	c.(2743-2745)GCA>ACA	p.A915T		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	915	Interaction with RAD51 and BRCA2.|WD 1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(2)|ovary(2)|lung(1)|skin(1)|kidney(1)|pancreas(1)	8										263				0.191304	39.676359	49.926444	22	93	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0167)	Missense_Mutation	SNP	23545063	23545063	11822	16	C	T	T	27	27	PALB2	T	1	1
PALB2	79728	broad.mit.edu	36	16	23548682	23548682	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23548682T>C	uc002dlx.1	-	c.2294A>G	c.(2293-2295)GAC>GGC	p.D765G		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	765					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(2)|ovary(2)|lung(1)|skin(1)|kidney(1)|pancreas(1)	8										263				0.221239	66.130712	74.199807	25	88	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0167)	Missense_Mutation	SNP	23548682	23548682	11822	16	T	C	C	58	58	PALB2	C	4	4
PLK1	5347	broad.mit.edu	36	16	23599745	23599745	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23599745G>T	uc002dlz.1	+	c.587G>T	c.(586-588)GGA>GTA	p.G196V		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase	196	Activation loop.|Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)	1						Colon(12;240 564 27038 33155)				206				0.361538	235.150232	239.54828	94	166	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0156)	Missense_Mutation	SNP	23599745	23599745	12520	16	G	T	T	41	41	PLK1	T	3	3
ERN2	10595	broad.mit.edu	36	16	23625581	23625581	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23625581C>T	uc002dma.2	-	c.626G>A	c.(625-627)CGA>CAA	p.R209Q	ERN2_uc010bxp.1_Missense_Mutation_p.R209Q|ERN2_uc010bxq.1_Missense_Mutation_p.R17Q	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	161	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|protein phosphorylation|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6										225				0.185	66.648355	85.271726	37	163	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0156)	Missense_Mutation	SNP	23625581	23625581	5431	16	C	T	T	31	31	ERN2	T	1	1
CHP2	63928	broad.mit.edu	36	16	23674700	23674700	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23674700G>A	uc002dmb.1	+	c.172G>A	c.(172-174)GCC>ACC	p.A58T		NM_022097	NP_071380	O43745	CHP2_HUMAN	hepatocellular carcinoma antigen gene 520	58	EF-hand 1.						calcium ion binding			central_nervous_system(1)	1														0.187097	51.978363	66.201687	29	126	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0144)	Missense_Mutation	SNP	23674700	23674700	3501	16	G	A	A	38	38	CHP2	A	1	1
CHP2	63928	broad.mit.edu	36	16	23676084	23676084	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23676084G>A	uc002dmb.1	+	c.476G>A	c.(475-477)CGC>CAC	p.R159H		NM_022097	NP_071380	O43745	CHP2_HUMAN	hepatocellular carcinoma antigen gene 520	159	EF-hand 4.						calcium ion binding			central_nervous_system(1)	1														0.209677	48.59132	58.263271	26	98	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0144)	Missense_Mutation	SNP	23676084	23676084	3501	16	G	A	A	38	38	CHP2	A	1	1
PRKCB	5579	broad.mit.edu	36	16	23954264	23954264	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23954264C>T	uc002dmc.1	+	c.424C>T	c.(424-426)CGC>TGC	p.R142C	PRKCB_uc002dmd.1_Missense_Mutation_p.R142C	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	142	Phorbol-ester/DAG-type 2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)					395				0.135266	32.37891	59.063842	28	179	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23954264	23954264	12951	16	C	T	T	27	27	PRKCB	T	1	1
PRKCB	5579	broad.mit.edu	36	16	24013089	24013089	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24013089C>A	uc002dmc.1	+	c.791C>A	c.(790-792)TCT>TAT	p.S264Y	PRKCB_uc002dmd.1_Missense_Mutation_p.S264Y	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	264					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)					395				0.203509	106.012462	129.374739	58	227	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24013089	24013089	12951	16	C	A	A	32	32	PRKCB	A	3	3
ITFG3	83986	broad.mit.edu	36	16	244643	244643	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:244643C>T	uc002cgf.1	+	c.230C>T	c.(229-231)GCG>GTG	p.A77V	ITFG3_uc010bqr.1_Intron|ITFG3_uc002cgg.1_Missense_Mutation_p.A77V|ITFG3_uc002cgh.1_Missense_Mutation_p.A77V	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	77	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)												0.443333	698.940918	700.596555	266	334	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	244643	244643	8175	16	C	T	T	27	27	ITFG3	T	1	1
RBBP6	5930	broad.mit.edu	36	16	24465021	24465021	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24465021C>A	uc002dmh.1	+	c.203C>A	c.(202-204)TCT>TAT	p.S68Y	RBBP6_uc002dmg.1_Missense_Mutation_p.S68Y|RBBP6_uc002dmi.1_Missense_Mutation_p.S68Y|RBBP6_uc010bxr.1_Missense_Mutation_p.S68Y	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	68	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4														0.465116	111.684815	111.776566	40	46	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0518)	Missense_Mutation	SNP	24465021	24465021	13564	16	C	A	A	32	32	RBBP6	A	3	3
RBBP6	5930	broad.mit.edu	36	16	24487785	24487785	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24487785C>T	uc002dmh.1	+	c.2273C>T	c.(2272-2274)TCA>TTA	p.S758L	RBBP6_uc002dmi.1_Missense_Mutation_p.S724L|RBBP6_uc010bxr.1_Intron|RBBP6_uc002dmk.1_Missense_Mutation_p.S591L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	758					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4														0.217617	85.332764	99.534946	42	151	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0518)	Missense_Mutation	SNP	24487785	24487785	13564	16	C	T	T	29	29	RBBP6	T	2	2
RBBP6	5930	broad.mit.edu	36	16	24489056	24489056	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24489056C>T	uc002dmh.1	+	c.3544C>T	c.(3544-3546)CGC>TGC	p.R1182C	RBBP6_uc002dmi.1_Missense_Mutation_p.R1148C|RBBP6_uc010bxr.1_Intron|RBBP6_uc002dmk.1_Missense_Mutation_p.R1015C	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1182					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4														0.254335	97.107449	106.592519	44	129	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0518)	Missense_Mutation	SNP	24489056	24489056	13564	16	C	T	T	27	27	RBBP6	T	1	1
TNRC6A	27327	broad.mit.edu	36	16	24709956	24709956	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24709956A>C	uc002dmm.1	+	c.2492A>C	c.(2491-2493)GAC>GCC	p.D831A	TNRC6A_uc010bxs.1_Missense_Mutation_p.D578A|TNRC6A_uc002dmn.1_Missense_Mutation_p.D578A|TNRC6A_uc002dmo.1_Missense_Mutation_p.D578A	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	831	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2														0.455882	103.924966	104.039157	31	37	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0394)	Missense_Mutation	SNP	24709956	24709956	16881	16	A	C	C	10	10	TNRC6A	C	4	4
TNRC6A	27327	broad.mit.edu	36	16	24723017	24723017	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24723017G>A	uc002dmm.1	+	c.3713G>A	c.(3712-3714)CGA>CAA	p.R1238Q	TNRC6A_uc010bxs.1_Missense_Mutation_p.R985Q|TNRC6A_uc002dmn.1_Missense_Mutation_p.R985Q|TNRC6A_uc002dmo.1_Missense_Mutation_p.R926Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1238	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2														0.177778	43.916482	57.119441	24	111	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0394)	Missense_Mutation	SNP	24723017	24723017	16881	16	G	A	A	37	37	TNRC6A	A	1	1
SLC5A11	115584	broad.mit.edu	36	16	24796142	24796142	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24796142C>T	uc002dmu.1	+	c.540C>T	c.(538-540)GCC>GCT	p.A180A	SLC5A11_uc002dms.1_Silent_p.A116A|SLC5A11_uc002dmt.1_Silent_p.A116A|SLC5A11_uc010bxt.1_Silent_p.A116A	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	180	Extracellular (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2														0.251969	364.143433	399.671888	160	475	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0365)	Silent	SNP	24796142	24796142	15160	16	C	T	T	21	21	SLC5A11	T	2	2
SLC5A11	115584	broad.mit.edu	36	16	24825938	24825938	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24825938G>A	uc002dmu.1	+	c.1206G>A	c.(1204-1206)ATG>ATA	p.M402I	SLC5A11_uc002dms.1_Missense_Mutation_p.M338I|SLC5A11_uc002dmt.1_Missense_Mutation_p.M246I|SLC5A11_uc010bxt.1_Missense_Mutation_p.M338I|SLC5A11_uc002dmv.1_Missense_Mutation_p.M25I	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	402	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2														0.188525	131.100954	164.430785	69	297	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0365)	Missense_Mutation	SNP	24825938	24825938	15160	16	G	A	A	47	47	SLC5A11	A	2	2
SLC5A11	115584	broad.mit.edu	36	16	24829176	24829176	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24829176G>A	uc002dmu.1	+	c.1699G>A	c.(1699-1701)GAA>AAA	p.E567K	SLC5A11_uc002dms.1_Missense_Mutation_p.E503K|SLC5A11_uc002dmt.1_Missense_Mutation_p.E411K|SLC5A11_uc010bxt.1_Missense_Mutation_p.E503K|SLC5A11_uc002dmv.1_Missense_Mutation_p.E190K	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	567	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2														0.352941	226.537847	231.072199	84	154	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0365)	Missense_Mutation	SNP	24829176	24829176	15160	16	G	A	A	41	41	SLC5A11	A	2	2
ARHGAP17	55114	broad.mit.edu	36	16	24849734	24849734	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24849734C>A	uc002dnb.1	-	c.2387G>T	c.(2386-2388)AGA>ATA	p.R796I	ARHGAP17_uc002dnc.1_Missense_Mutation_p.R718I|ARHGAP17_uc002dmw.1_Missense_Mutation_p.R58I|ARHGAP17_uc002dmx.1_Missense_Mutation_p.R58I|ARHGAP17_uc002dmy.1_Missense_Mutation_p.R241I|ARHGAP17_uc002dmz.1_Missense_Mutation_p.R320I|ARHGAP17_uc002dna.1_Missense_Mutation_p.R523I|ARHGAP17_uc002dne.1_Missense_Mutation_p.R58I	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	796	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0														0.23	135.252989	155.379742	69	231	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0407)	Missense_Mutation	SNP	24849734	24849734	878	16	C	A	A	32	32	ARHGAP17	A	3	3
TBC1D24	57465	broad.mit.edu	36	16	2486981	2486981	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2486981G>A	uc002cql.1	+	c.831G>A	c.(829-831)GCG>GCA	p.A277A	TBC1D24_uc002cqk.1_Silent_p.A277A|TBC1D24_uc002cqm.1_Silent_p.A277A|TBC1D24_uc010bsm.1_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	277					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0														0.195122	46.530604	57.192973	24	99	GG		KEEP	---	---	---	---	capture			Silent	SNP	2486981	2486981	16136	16	G	A	A	37	37	TBC1D24	A	1	1
AQP8	343	broad.mit.edu	36	16	25143210	25143210	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:25143210G>A	uc002doc.1	+	c.414G>A	c.(412-414)TGG>TGA	p.W138*		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	138	Extracellular (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			breast(1)|pancreas(1)	2														0.222222	39.009113	44.758405	18	63	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.044)	Nonsense_Mutation	SNP	25143210	25143210	843	16	G	A	A	41	41	AQP8	A	5	2
ZKSCAN2	342357	broad.mit.edu	36	16	25162904	25162904	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:25162904G>A	uc002dod.2	-	c.1684C>T	c.(1684-1686)CGC>TGC	p.R562C		NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	562					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4														0.213992	114.272458	132.628636	52	191	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0378)	Missense_Mutation	SNP	25162904	25162904	18278	16	G	A	A	39	39	ZKSCAN2	A	1	1
CEMP1	752014	broad.mit.edu	36	16	2520613	2520613	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2520613G>A	uc002cqr.2	-	c.463C>T	c.(463-465)CGC>TGC	p.R155C		NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	155						cytoplasm					0														0.227273	108.822306	125.335251	55	187	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2520613	2520613	3357	16	G	A	A	38	38	CEMP1	A	1	1
ITFG3	83986	broad.mit.edu	36	16	252437	252437	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:252437C>T	uc002cgf.1	+	c.855C>T	c.(853-855)TGC>TGT	p.C285C	ITFG3_uc010bqr.1_Non-coding_Transcript|ITFG3_uc002cgg.1_Silent_p.C285C|ITFG3_uc002cgh.1_Silent_p.C285C	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	285	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)												0.418803	131.155182	131.827489	49	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	252437	252437	8175	16	C	T	T	27	27	ITFG3	T	1	1
JMJD5	79831	broad.mit.edu	36	16	27128973	27128973	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27128973G>T	uc002doh.1	+	c.28G>T	c.(28-30)GAG>TAG	p.E10*	JMJD5_uc010bxw.1_Nonsense_Mutation_p.E10*|JMJD5_uc010bxv.1_Nonsense_Mutation_p.E10*	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	10					G2/M transition of mitotic cell cycle|oxidation-reduction process|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)	2														0.233962	119.573674	136.785943	62	203	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27128973	27128973	8256	16	G	T	T	33	33	JMJD5	T	5	3
IL4R	3566	broad.mit.edu	36	16	27274696	27274696	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27274696C>T	uc002don.1	+	c.737C>T	c.(736-738)GCC>GTC	p.A246V	IL4R_uc010bxy.1_Missense_Mutation_p.A246V|IL4R_uc002doo.1_Missense_Mutation_p.A86V	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	246	Helical; (Potential).				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2														0.215	90.608946	105.612637	43	157	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27274696	27274696	7999	16	C	T	T	26	26	IL4R	T	2	2
IL21R	50615	broad.mit.edu	36	16	27356314	27356314	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27356314G>T	uc002doq.1	+	c.157G>T	c.(157-159)GAC>TAC	p.D53Y	IL21R_uc002dor.1_Missense_Mutation_p.D53Y|IL21R_uc002dos.1_Missense_Mutation_p.D53Y	NM_181078	NP_851565	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	53	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)	2										423				0.160714	24.190875	36.46364	18	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27356314	27356314	7972	16	G	T	T	33	33	IL21R	T	3	3
IL21R	50615	broad.mit.edu	36	16	27367413	27367413	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27367413G>T	uc002doq.1	+	c.925G>T	c.(925-927)GAG>TAG	p.E309*	IL21R_uc002dor.1_Nonsense_Mutation_p.E309*|IL21R_uc002dos.1_Nonsense_Mutation_p.E309*	NM_181078	NP_851565	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	309	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)	2										423				0.26506	46.690277	50.84994	22	61	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27367413	27367413	7972	16	G	T	T	33	33	IL21R	T	5	3
IL21R	50615	broad.mit.edu	36	16	27367769	27367769	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27367769C>A	uc002doq.1	+	c.1281C>A	c.(1279-1281)TCC>TCA	p.S427S	IL21R_uc002dor.1_Silent_p.S427S|IL21R_uc002dos.1_Silent_p.S427S	NM_181078	NP_851565	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	427	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)	2										423				0.260116	96.174089	105.206216	45	128	CC		KEEP	---	---	---	---	capture			Silent	SNP	27367769	27367769	7972	16	C	A	A	24	24	IL21R	A	3	3
PDIA2	64714	broad.mit.edu	36	16	274457	274457	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:274457C>T	uc002cgn.1	+	c.269C>T	c.(268-270)GCC>GTC	p.A90V	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Missense_Mutation_p.A90V	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase-associated 2	90	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)	1		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)												0.4375	16.917447	16.972671	7	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	274457	274457	12089	16	C	T	T	26	26	PDIA2	T	2	2
PDIA2	64714	broad.mit.edu	36	16	274695	274695	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:274695C>T	uc002cgn.1	+	c.442C>T	c.(442-444)CGA>TGA	p.R148*	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Nonsense_Mutation_p.R148*	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase-associated 2	148	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)	1		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)												0.357143	13.385049	13.63053	5	9	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	274695	274695	12089	16	C	T	T	27	27	PDIA2	T	5	1
SRRM2	23524	broad.mit.edu	36	16	2752434	2752434	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2752434C>T	uc002crk.1	+	c.1904C>T	c.(1903-1905)TCT>TTT	p.S635F	SRRM2_uc002crj.1_Missense_Mutation_p.S539F|SRRM2_uc002crl.1_Missense_Mutation_p.S635F|SRRM2_uc010bsu.1_Missense_Mutation_p.S539F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	635	Arg-rich.|Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.460905	318.346816	318.67198	112	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2752434	2752434	15683	16	C	T	T	32	32	SRRM2	T	2	2
KIAA0556	23247	broad.mit.edu	36	16	27537252	27537252	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27537252C>T	uc002dow.1	+	c.69C>T	c.(67-69)TAC>TAT	p.Y23Y		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	23										ovary(4)|large_intestine(2)	6														0.227273	53.31518	60.827917	25	85	CC		KEEP	---	---	---	---	capture			Silent	SNP	27537252	27537252	8490	16	C	T	T	19	19	KIAA0556	T	1	1
SRRM2	23524	broad.mit.edu	36	16	2756658	2756658	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2756658G>A	uc002crk.1	+	c.6128G>A	c.(6127-6129)CGA>CAA	p.R2043Q	SRRM2_uc002crj.1_Missense_Mutation_p.R1947Q|SRRM2_uc002crl.1_Missense_Mutation_p.R2043Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R1947Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2043	Arg-rich.|Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.1875	32.326527	41.084041	18	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2756658	2756658	15683	16	G	A	A	37	37	SRRM2	A	1	1
GSG1L	146395	broad.mit.edu	36	16	27803383	27803383	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27803383C>T	uc002doz.2	-	c.475G>A	c.(475-477)GAG>AAG	p.E159K	GSG1L_uc010bxz.1_Missense_Mutation_p.E4K|GSG1L_uc002doy.2_Missense_Mutation_p.E4K|GSG1L_uc010bya.1_Intron	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	159						integral to membrane				ovary(1)	1														0.4	43.874832	44.197715	16	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27803383	27803383	7101	16	C	T	T	31	31	GSG1L	T	1	1
PRSS21	10942	broad.mit.edu	36	16	2807448	2807448	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2807448G>A	uc002crt.1	+	c.81G>A	c.(79-81)GCG>GCA	p.A27A	PRSS21_uc002crr.1_Silent_p.A27A|PRSS21_uc002crs.1_Silent_p.A27A	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	27					proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.514286	47.880766	47.888944	18	17	GG		KEEP	---	---	---	---	capture			Silent	SNP	2807448	2807448	13068	16	G	A	A	38	38	PRSS21	A	1	1
PRSS21	10942	broad.mit.edu	36	16	2811565	2811565	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2811565T>G	uc002crt.1	+	c.903T>G	c.(901-903)TTT>TTG	p.F301L	PRSS21_uc002crr.1_Missense_Mutation_p.F287L|PRSS21_uc002crs.1_Missense_Mutation_p.F299L	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	301					proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.150838	52.11528	73.024151	27	152	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2811565	2811565	13068	16	T	G	G	64	64	PRSS21	G	4	4
APOB48R	55911	broad.mit.edu	36	16	28415595	28415595	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28415595G>A	uc002dqb.1	+	c.1705G>A	c.(1705-1707)GAG>AAG	p.E569K	APOB48R_uc010byg.1_Missense_Mutation_p.E107K	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	569	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0														0.714286	14.87664	15.164601	5	2	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28415595	28415595	797	16	G	A	A	37	37	APOB48R	A	1	1
APOB48R	55911	broad.mit.edu	36	16	28416740	28416740	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28416740G>A	uc002dqb.1	+	c.2850G>A	c.(2848-2850)GCG>GCA	p.A950A	APOB48R_uc010byg.1_Silent_p.A488A	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	950	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0														0.606557	107.88023	108.485955	37	24	GG		KEEP	---	---	---	---	capture			Silent	SNP	28416740	28416740	797	16	G	A	A	38	38	APOB48R	A	1	1
IL27	246778	broad.mit.edu	36	16	28420945	28420945	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28420945A>G	uc002dqc.1	-	c.315T>C	c.(313-315)CGT>CGC	p.R105R		NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27	105					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0														0.285714	33.48757	35.215295	12	30	AA		KEEP	---	---	---	---	capture			Silent	SNP	28420945	28420945	7981	16	A	G	G	10	10	IL27	G	4	4
PRSS22	64063	broad.mit.edu	36	16	2843974	2843974	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2843974C>T	uc002cry.1	-	c.610G>A	c.(610-612)GAC>AAC	p.D204N	PRSS22_uc002crz.1_Missense_Mutation_p.D94N	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	204	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1														0.158333	30.76391	44.107327	19	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2843974	2843974	13069	16	C	T	T	31	31	PRSS22	T	1	1
ATXN2L	11273	broad.mit.edu	36	16	28742144	28742144	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28742144G>T	uc002dqy.1	+	c.63G>T	c.(61-63)CAG>CAT	p.Q21H	ATXN2L_uc010byl.1_Missense_Mutation_p.Q21H|ATXN2L_uc002drb.1_Missense_Mutation_p.Q21H|ATXN2L_uc002dqz.1_Missense_Mutation_p.Q21H|ATXN2L_uc002dra.1_Missense_Mutation_p.Q21H|ATXN2L_uc002drc.1_Missense_Mutation_p.Q21H|ATXN2L_uc002dre.1_Missense_Mutation_p.Q21H|ATXN2L_uc002drf.1_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform C	21	Pro-rich.					membrane				ovary(1)	1														0.609756	68.880705	69.316413	25	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28742144	28742144	1232	16	G	T	T	35	35	ATXN2L	T	3	3
TUFM	7284	broad.mit.edu	36	16	28764174	28764174	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28764174C>T	uc002drh.2	-	c.376G>A	c.(376-378)GCC>ACC	p.A126T	SH2B1_uc002dri.1_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	123						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1														0.184	160.805105	207.67907	92	408	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28764174	28764174	17326	16	C	T	T	27	27	TUFM	T	1	1
ATP2A1	487	broad.mit.edu	36	16	28806072	28806072	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28806072G>T	uc002dro.1	+	c.606G>T	c.(604-606)CAG>CAT	p.Q202H	ATP2A1_uc002drn.1_Missense_Mutation_p.Q202H|ATP2A1_uc002drp.1_Missense_Mutation_p.Q77H|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	202	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	calcium channel complex|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.361963	149.447402	152.193337	59	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28806072	28806072	1155	16	G	T	T	35	35	ATP2A1	T	3	3
ATP2A1	487	broad.mit.edu	36	16	28821688	28821688	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28821688C>T	uc002dro.1	+	c.2699C>T	c.(2698-2700)GCC>GTC	p.A900V	ATP2A1_uc002drn.1_Missense_Mutation_p.A900V|ATP2A1_uc002drp.1_Missense_Mutation_p.A775V	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	900	Helical; Name=8; (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	calcium channel complex|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.42623	68.642091	68.930343	26	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28821688	28821688	1155	16	C	T	T	26	26	ATP2A1	T	2	2
ATP2A1	487	broad.mit.edu	36	16	28822240	28822240	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28822240C>T	uc002dro.1	+	c.2958C>T	c.(2956-2958)TTC>TTT	p.F986F	ATP2A1_uc002drn.1_Silent_p.F986F|ATP2A1_uc002drp.1_Silent_p.F861F	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	986	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	calcium channel complex|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.192547	58.54999	72.751208	31	130	CC		KEEP	---	---	---	---	capture			Silent	SNP	28822240	28822240	1155	16	C	T	T	31	31	ATP2A1	T	1	1
RABEP2	79874	broad.mit.edu	36	16	28829799	28829799	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28829799G>T	uc002drq.1	-	c.1000C>A	c.(1000-1002)CTC>ATC	p.L334I	RABEP2_uc010byn.1_Missense_Mutation_p.L302I|RABEP2_uc002drr.2_Missense_Mutation_p.L334I	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	334	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)	2						Pancreas(66;639 1284 10093 31061 49099)								0.209877	34.318822	40.643206	17	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28829799	28829799	13421	16	G	T	T	34	34	RABEP2	T	3	3
CD19	930	broad.mit.edu	36	16	28851931	28851931	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28851931G>T	uc010byo.1	+	c.554G>T	c.(553-555)AGC>ATC	p.S185I	CD19_uc002drs.1_Missense_Mutation_p.S185I	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen	185	Extracellular (Potential).|Ig-like C2-type 2.				cellular defense response	integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3														0.509804	153.492656	153.50099	52	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28851931	28851931	3100	16	G	T	T	34	34	CD19	T	3	3
NFATC2IP	84901	broad.mit.edu	36	16	28873413	28873413	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28873413C>A	uc002dru.1	+	c.487C>A	c.(487-489)CTC>ATC	p.L163I	NFATC2IP_uc002drt.1_Intron|NFATC2IP_uc002drv.1_5'Flank	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	163						cytoplasm|nucleus				ovary(1)	1														0.455947	551.400926	552.175709	207	247	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28873413	28873413	10763	16	C	A	A	32	32	NFATC2IP	A	3	3
KREMEN2	79412	broad.mit.edu	36	16	2956207	2956207	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2956207G>A	uc002csg.1	+	c.335G>A	c.(334-336)CGC>CAC	p.R112H	KREMEN2_uc010bsw.1_Missense_Mutation_p.R112H|KREMEN2_uc002csi.2_Missense_Mutation_p.R112H|KREMEN2_uc002csh.1_Missense_Mutation_p.R112H|KREMEN2_uc010bsx.1_Missense_Mutation_p.R112H	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	kringle-containing transmembrane protein 2	112	Extracellular (Potential).|Kringle.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)	2														0.478261	270.136908	270.219093	99	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2956207	2956207	8758	16	G	A	A	38	38	KREMEN2	A	1	1
PKMYT1	9088	broad.mit.edu	36	16	2965358	2965358	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2965358G>A	uc002csn.1	-	c.835C>T	c.(835-837)CTG>TTG	p.L279L	PKMYT1_uc002csm.1_Silent_p.L279L|PKMYT1_uc002cso.1_Silent_p.L210L|PKMYT1_uc002csp.1_Silent_p.L270L|PKMYT1_uc002csq.1_Silent_p.L270L|PKMYT1_uc010bsy.1_Silent_p.L270L	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	279	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity				0										30				0.106667	8.043516	19.562671	8	67	GG		KEEP	---	---	---	---	capture			Silent	SNP	2965358	2965358	12403	16	G	A	A	34	34	PKMYT1	A	2	2
PKMYT1	9088	broad.mit.edu	36	16	2965572	2965572	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2965572C>A	uc002csn.1	-	c.621G>T	c.(619-621)GAG>GAT	p.E207D	PKMYT1_uc002csm.1_Missense_Mutation_p.E207D|PKMYT1_uc002cso.1_Missense_Mutation_p.E138D|PKMYT1_uc002csp.1_Missense_Mutation_p.E198D|PKMYT1_uc002csq.1_Missense_Mutation_p.E198D|PKMYT1_uc010bsy.1_Missense_Mutation_p.E198D	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	207	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity				0										30				0.211268	29.68307	35.160563	15	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2965572	2965572	12403	16	C	A	A	24	24	PKMYT1	A	3	3
PRRT2	112476	broad.mit.edu	36	16	29731942	29731942	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29731942C>T	uc002dud.2	+	c.66C>T	c.(64-66)GGC>GGT	p.G22G	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|PRRT2_uc002due.2_Silent_p.G22G|PRRT2_uc002duf.1_Silent_p.G22G	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	22	Extracellular (Potential).				response to biotic stimulus	integral to membrane					0														0.493333	196.494885	196.501324	74	76	CC		KEEP	---	---	---	---	capture			Silent	SNP	29731942	29731942	13059	16	C	T	T	27	27	PRRT2	T	1	1
MVP	9961	broad.mit.edu	36	16	29749839	29749839	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29749839G>A	uc002dui.1	+	c.265G>A	c.(265-267)GAG>AAG	p.E89K	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|MVP_uc010bzh.1_Non-coding_Transcript|MVP_uc002duj.1_Missense_Mutation_p.E89K	NM_005115	NP_059447	Q14764	MVP_HUMAN	major vault protein	89	MVP 2.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3														0.204918	50.131494	59.970561	25	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29749839	29749839	10390	16	G	A	A	37	37	MVP	A	1	1
MVP	9961	broad.mit.edu	36	16	29752847	29752847	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29752847G>A	uc002dui.1	+	c.536G>A	c.(535-537)CGC>CAC	p.R179H	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|MVP_uc010bzh.1_Non-coding_Transcript|MVP_uc002duj.1_Missense_Mutation_p.R179H	NM_005115	NP_059447	Q14764	MVP_HUMAN	major vault protein	179	MVP 4.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3														0.238462	66.264282	74.38535	31	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29752847	29752847	10390	16	G	A	A	38	38	MVP	A	1	1
MVP	9961	broad.mit.edu	36	16	29760845	29760845	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29760845C>T	uc002dui.1	+	c.1545C>T	c.(1543-1545)TGC>TGT	p.C515C	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|MVP_uc002duj.1_Silent_p.C515C	NM_005115	NP_059447	Q14764	MVP_HUMAN	major vault protein	515	MVP 9.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3														0.367647	67.353611	68.402086	25	43	CC		KEEP	---	---	---	---	capture			Silent	SNP	29760845	29760845	10390	16	C	T	T	26	26	MVP	T	2	2
ASPHD1	253982	broad.mit.edu	36	16	29820045	29820045	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29820045C>T	uc002dut.1	+	c.252C>T	c.(250-252)TTC>TTT	p.F84F	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|SEZ6L2_uc002dup.2_5'Flank|SEZ6L2_uc002duq.2_5'Flank|SEZ6L2_uc002dur.2_5'Flank|SEZ6L2_uc002dus.2_5'Flank|ASPHD1_uc002duu.2_Non-coding_Transcript|ASPHD1_uc010bzi.1_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	84	Helical; (Potential).				oxidation-reduction process|peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity				0														0.410377	238.765488	240.257234	87	125	CC		KEEP	---	---	---	---	capture			Silent	SNP	29820045	29820045	1073	16	C	T	T	31	31	ASPHD1	T	1	1
ASPHD1	253982	broad.mit.edu	36	16	29820629	29820629	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29820629G>A	uc002dut.1	+	c.836G>A	c.(835-837)CGA>CAA	p.R279Q	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|SEZ6L2_uc002dup.2_5'Flank|SEZ6L2_uc002duq.2_5'Flank|SEZ6L2_uc002dur.2_5'Flank|SEZ6L2_uc002dus.2_5'Flank|ASPHD1_uc002duu.2_Non-coding_Transcript|ASPHD1_uc010bzi.1_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	279	Lumenal (Potential).				oxidation-reduction process|peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity				0														0.166667	30.818612	43.475059	20	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29820629	29820629	1073	16	G	A	A	37	37	ASPHD1	A	1	1
KCTD13	253980	broad.mit.edu	36	16	29829809	29829809	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29829809C>A	uc002duv.1	-	c.744G>T	c.(742-744)AAG>AAT	p.K248N	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|ASPHD1_uc002duu.2_Intron|ASPHD1_uc010bzi.1_Intron|KCTD13_uc010bzj.1_Non-coding_Transcript	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	248					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0														0.210084	52.012948	61.267709	25	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29829809	29829809	8406	16	C	A	A	28	28	KCTD13	A	3	3
KCTD13	253980	broad.mit.edu	36	16	29844709	29844709	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29844709G>A	uc002duv.1	-	c.147C>T	c.(145-147)GGC>GGT	p.G49G	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|KCTD13_uc010bzj.1_Non-coding_Transcript	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	49	BTB.				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0														0.423358	161.428553	162.128882	58	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	29844709	29844709	8406	16	G	A	A	34	34	KCTD13	A	2	2
TAOK2	9344	broad.mit.edu	36	16	29905698	29905698	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29905698G>A	uc010bzm.1	+	c.2625G>A	c.(2623-2625)GGG>GGA	p.G875G	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|TAOK2_uc002dva.1_Silent_p.G868G|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc002dvd.1_Silent_p.G695G	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	868	Glu-rich.				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										143				0.488372	118.635777	118.646125	42	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	29905698	29905698	16069	16	G	A	A	41	41	TAOK2	A	2	2
TAOK2	9344	broad.mit.edu	36	16	29905867	29905867	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29905867G>A	uc010bzm.1	+	c.2794G>A	c.(2794-2796)GAC>AAC	p.D932N	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|TAOK2_uc002dva.1_Missense_Mutation_p.D925N|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc002dvd.1_Missense_Mutation_p.D752N	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	925					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										143				0.440385	628.423246	630.025387	229	291	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29905867	29905867	16069	16	G	A	A	37	37	TAOK2	A	1	1
TAOK2	9344	broad.mit.edu	36	16	29909609	29909609	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29909609C>T	uc002dvc.1	+	c.2449C>T	c.(2449-2451)CGG>TGG	p.R817W	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 1	696	Potential.				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										143				0.386667	151.407391	153.097938	58	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29909609	29909609	16069	16	C	T	T	27	27	TAOK2	T	1	1
DOC2A	8448	broad.mit.edu	36	16	29925121	29925121	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29925121C>T	uc002dvm.1	-	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|DOC2A_uc002dvl.1_Missense_Mutation_p.E362K|DOC2A_uc002dvn.1_Missense_Mutation_p.E364K|DOC2A_uc002dvo.1_Missense_Mutation_p.E364K|DOC2A_uc002dvp.1_Missense_Mutation_p.E364K|DOC2A_uc002dvq.1_Missense_Mutation_p.E364K	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	364	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2														0.481481	72.243394	72.259606	26	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29925121	29925121	4866	16	C	T	T	31	31	DOC2A	T	1	1
ALDOA	226	broad.mit.edu	36	16	29987684	29987684	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29987684G>A	uc002dwd.1	+	c.424G>A	c.(424-426)GGA>AGA	p.G142R	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|ALDOA_uc002dvw.1_Missense_Mutation_p.G142R|ALDOA_uc002dvx.1_Missense_Mutation_p.G142R|ALDOA_uc002dvy.1_Missense_Mutation_p.G142R|ALDOA_uc002dvz.1_Missense_Mutation_p.G142R|ALDOA_uc002dwa.2_Missense_Mutation_p.G142R|ALDOA_uc002dwb.1_Missense_Mutation_p.G142R|ALDOA_uc002dwc.1_Missense_Mutation_p.G142R	NM_184043	NP_908932	P04075	ALDOA_HUMAN	fructose-bisphosphate aldolase A	142					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			lung(1)	1												OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.377143	185.507271	187.824805	66	109	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29987684	29987684	510	16	G	A	A	39	39	ALDOA	A	1	1
TBX6	6911	broad.mit.edu	36	16	30007815	30007815	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30007815A>G	uc002dwj.1	-	c.571T>C	c.(571-573)TCT>CCT	p.S191P	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.S191P	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	191	T-box.				anatomical structure morphogenesis|mesoderm development|multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2														0.189024	59.309966	74.361144	31	133	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30007815	30007815	16188	16	A	G	G	10	10	TBX6	G	4	4
CLDN6	9074	broad.mit.edu	36	16	3005904	3005904	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3005904G>A	uc002csu.2	-	c.120C>T	c.(118-120)ATC>ATT	p.I40I	CLDN6_uc010bsz.1_Silent_p.I40I	NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	40	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.408451	237.673251	239.235436	87	126	GG		KEEP	---	---	---	---	capture			Silent	SNP	3005904	3005904	3626	16	G	A	A	37	37	CLDN6	A	1	1
CORO1A	11151	broad.mit.edu	36	16	30105482	30105482	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30105482C>T	uc002dww.1	+	c.261C>T	c.(259-261)ATC>ATT	p.I87I	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|CORO1A_uc010bzq.1_Silent_p.I87I|CORO1A_uc010bzr.1_Silent_p.I87I|CORO1A_uc002dwx.1_5'UTR|CORO1A_uc002dwy.1_5'Flank|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	87	WD 2.				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0														0.532258	93.372938	93.428901	33	29	CC		KEEP	---	---	---	---	capture			Silent	SNP	30105482	30105482	3891	16	C	T	T	31	31	CORO1A	T	1	1
TBC1D10B	26000	broad.mit.edu	36	16	30284328	30284328	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30284328G>A	uc002dxu.2	-	c.220C>T	c.(220-222)CGA>TGA	p.R74*		NM_015527	NP_056342	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	349						cytoplasm	Rab GTPase activator activity				0														0.417062	242.267981	243.532448	88	123	GG		KEEP	---	---	---	---	capture	Colorectal(24;0.193)		Nonsense_Mutation	SNP	30284328	30284328	16121	16	G	A	A	38	38	TBC1D10B	A	5	1
TBC1D10B	26000	broad.mit.edu	36	16	30288160	30288160	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30288160G>T	uc002dxu.2	-	c.21C>A	c.(19-21)TCC>TCA	p.S7S		NM_015527	NP_056342	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	282						cytoplasm	Rab GTPase activator activity				0														0.272727	13.738422	14.764108	6	16	GG		KEEP	---	---	---	---	capture	Colorectal(24;0.193)		Silent	SNP	30288160	30288160	16121	16	G	T	T	35	35	TBC1D10B	T	3	3
ITGAL	3683	broad.mit.edu	36	16	30415015	30415015	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30415015G>A	uc002dyi.2	+	c.1600G>A	c.(1600-1602)GAT>AAT	p.D534N	ITGAL_uc002dyj.2_Missense_Mutation_p.D451N	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	534	Potential.|FG-GAP 6.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(1)	7					Efalizumab(DB00095)	NSCLC(110;1462 1641 3311 33990 49495)								0.238462	203.690348	228.056092	93	297	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30415015	30415015	8190	16	G	A	A	37	37	ITGAL	A	1	1
ITGAL	3683	broad.mit.edu	36	16	30425544	30425544	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30425544G>A	uc002dyi.2	+	c.2374G>A	c.(2374-2376)GCC>ACC	p.A792T	ITGAL_uc002dyj.2_Missense_Mutation_p.A708T	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	792	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(1)	7					Efalizumab(DB00095)	NSCLC(110;1462 1641 3311 33990 49495)								0.176471	206.992928	272.357098	117	546	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30425544	30425544	8190	16	G	A	A	34	34	ITGAL	A	2	2
ITGAL	3683	broad.mit.edu	36	16	30429702	30429702	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30429702G>T	uc002dyi.2	+	c.2620_splice	c.e23-1	p.V874_splice	ITGAL_uc002dyj.2_Splice_Site_SNP_p.V790_splice	NM_002209	NP_002200			integrin alpha L isoform a precursor						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(1)	7					Efalizumab(DB00095)	NSCLC(110;1462 1641 3311 33990 49495)								0.3	115.723674	121.450568	48	112	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	30429702	30429702	8190	16	G	T	T	35	35	ITGAL	T	5	3
ZNF689	115509	broad.mit.edu	36	16	30523598	30523598	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30523598G>A	uc002dyx.1	-	c.991C>T	c.(991-993)CGC>TGC	p.R331C	ZNF689_uc010bzy.1_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	331	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.604651	76.340568	76.749796	26	17	GG		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Missense_Mutation	SNP	30523598	30523598	18689	16	G	A	A	37	37	ZNF689	A	1	1
IL32	9235	broad.mit.edu	36	16	3058199	3058199	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3058199C>T	uc002cto.1	+	c.297C>T	c.(295-297)GGC>GGT	p.G99G	IL32_uc002ctk.1_Silent_p.G53G|IL32_uc010btb.1_Silent_p.G43G|IL32_uc002ctl.1_Silent_p.G53G|IL32_uc002ctm.1_Silent_p.G53G|IL32_uc002ctn.1_Silent_p.G53G|IL32_uc010btc.1_3'UTR|IL32_uc002cts.2_Silent_p.G53G|IL32_uc002ctp.1_Silent_p.G33G|IL32_uc002ctq.1_Silent_p.G99G|IL32_uc002ctr.1_Silent_p.G33G|IL32_uc002ctt.1_Silent_p.G53G|IL32_uc002ctu.1_Silent_p.G44G	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	99					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1														0.529412	54.1518	54.177513	18	16	CC		KEEP	---	---	---	---	capture			Silent	SNP	3058199	3058199	7993	16	C	T	T	28	28	IL32	T	2	2
SRCAP	10847	broad.mit.edu	36	16	30629617	30629617	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30629617G>A	uc002dze.1	+	c.1176G>A	c.(1174-1176)CAG>CAA	p.Q392Q	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.Q249Q|SRCAP_uc010bzz.1_5'UTR	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	392	Glu-rich.				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)	3														0.2	33.887338	41.436298	18	72	GG		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Silent	SNP	30629617	30629617	15649	16	G	A	A	34	34	SRCAP	A	2	2
SRCAP	10847	broad.mit.edu	36	16	30639724	30639724	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30639724G>A	uc002dze.1	+	c.3177G>A	c.(3175-3177)CCG>CCA	p.P1059P	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.P916P|SRCAP_uc010bzz.1_Silent_p.P629P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1059	Pro-rich.				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)	3														0.184211	69.744675	91.070162	42	186	GG		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Silent	SNP	30639724	30639724	15649	16	G	A	A	38	38	SRCAP	A	1	1
SRCAP	10847	broad.mit.edu	36	16	30640089	30640089	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30640089C>A	uc002dze.1	+	c.3332C>A	c.(3331-3333)CCT>CAT	p.P1111H	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.P968H|SRCAP_uc010bzz.1_Missense_Mutation_p.P681H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1111	Pro-rich.				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)	3														0.411932	392.879591	395.271101	145	207	CC		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Missense_Mutation	SNP	30640089	30640089	15649	16	C	A	A	24	24	SRCAP	A	3	3
SRCAP	10847	broad.mit.edu	36	16	30655207	30655207	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30655207C>T	uc002dze.1	+	c.6915C>T	c.(6913-6915)CTC>CTT	p.L2305L	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.L2100L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2305	Glu-rich.				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)	3														0.153153	23.912296	36.684997	17	94	CC		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Silent	SNP	30655207	30655207	15649	16	C	T	T	31	31	SRCAP	T	1	1
SRCAP	10847	broad.mit.edu	36	16	30657030	30657030	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30657030G>A	uc002dze.1	+	c.8168G>A	c.(8167-8169)CGC>CAC	p.R2723H	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.R2518H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2723	Pro-rich.				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)	3														0.467949	198.865322	199.003356	73	83	GG		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Missense_Mutation	SNP	30657030	30657030	15649	16	G	A	A	38	38	SRCAP	A	1	1
C16orf93	90835	broad.mit.edu	36	16	30676408	30676408	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30676408G>T	uc002dzn.1	-	c.1081C>A	c.(1081-1083)CTG>ATG	p.L361M	C16orf93_uc002dzm.1_Missense_Mutation_p.L296M|C16orf93_uc002dzo.1_Missense_Mutation_p.L259M	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	296	Potential.										0														0.482993	404.069734	404.146102	142	152	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30676408	30676408	1899	16	G	T	T	34	34	C16orf93	T	3	3
ZSCAN10	84891	broad.mit.edu	36	16	3080104	3080104	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3080104G>A	uc002ctv.1	-	c.1167C>T	c.(1165-1167)CGC>CGT	p.R389R	ZSCAN10_uc002ctw.1_Silent_p.R307R|ZSCAN10_uc002ctx.1_Silent_p.R317R|ZSCAN10_uc002cty.1_Silent_p.R50R	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	389	C2H2-type 4.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(1)	1														0.40678	65.090275	65.537506	24	35	GG		KEEP	---	---	---	---	capture			Silent	SNP	3080104	3080104	18831	16	G	A	A	38	38	ZSCAN10	A	1	1
FBXL19	54620	broad.mit.edu	36	16	30849065	30849065	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30849065G>A	uc002eab.2	+	c.1020G>A	c.(1018-1020)TCG>TCA	p.S340S	FBXL19_uc002dzz.1_Silent_p.S28S|FBXL19_uc002eaa.1_Silent_p.S239S	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	340	Ser-rich.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.429825	129.081131	129.563829	49	65	GG		KEEP	---	---	---	---	capture			Silent	SNP	30849065	30849065	5952	16	G	A	A	38	38	FBXL19	A	1	1
STX1B	112755	broad.mit.edu	36	16	30919765	30919765	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30919765G>A	uc010cae.1	-	c.265C>T	c.(265-267)CGG>TGG	p.R89W	STX1B_uc002eaj.2_Missense_Mutation_p.R89W	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	89	Potential.|Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0														0.15528	36.050518	54.368205	25	136	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30919765	30919765	15864	16	G	A	A	37	37	STX1B	A	1	1
STX4	6810	broad.mit.edu	36	16	30957341	30957341	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30957341G>A	uc002eal.1	+	c.574G>A	c.(574-576)GAC>AAC	p.D192N	STX4_uc002eak.1_Missense_Mutation_p.D190N|STX4_uc002eam.1_Missense_Mutation_p.D114N	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	192	Cytoplasmic (Potential).|Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0														0.233577	72.941962	81.835124	32	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30957341	30957341	15867	16	G	A	A	41	41	STX4	A	2	2
ZNF668	79759	broad.mit.edu	36	16	30980631	30980631	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30980631G>A	uc010caf.1	-	c.1119C>T	c.(1117-1119)TTC>TTT	p.F373F	ZNF668_uc002eao.1_Silent_p.F373F	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	373	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						Colon(181;1111 1980 5060 10512 25785)				49				0.203704	106.568003	128.584153	55	215	GG		KEEP	---	---	---	---	capture			Silent	SNP	30980631	30980631	18670	16	G	A	A	37	37	ZNF668	A	1	1
ZNF668	79759	broad.mit.edu	36	16	30981051	30981051	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30981051G>T	uc010caf.1	-	c.699C>A	c.(697-699)TTC>TTA	p.F233L	ZNF668_uc002eao.1_Missense_Mutation_p.F233L	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	233	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						Colon(181;1111 1980 5060 10512 25785)				49				0.145833	8.896728	14.685739	7	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30981051	30981051	18670	16	G	T	T	33	33	ZNF668	T	3	3
ZNF668	79759	broad.mit.edu	36	16	30982768	30982768	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30982768C>T	uc010caf.1	-	c.514G>A	c.(514-516)GAC>AAC	p.D172N	ZNF668_uc002eao.1_Missense_Mutation_p.D172N|ZNF668_uc010cag.1_Missense_Mutation_p.D172N	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	172	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						Colon(181;1111 1980 5060 10512 25785)				49				0.48	31.089315	31.098404	12	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30982768	30982768	18670	16	C	T	T	31	31	ZNF668	T	1	1
ZNF646	9726	broad.mit.edu	36	16	30996515	30996515	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30996515A>G	uc002eap.1	+	c.1369A>G	c.(1369-1371)ACC>GCC	p.T457A		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2														0.125	10.872818	22.970042	11	77	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30996515	30996515	18657	16	A	G	G	6	6	ZNF646	G	4	4
ZNF646	9726	broad.mit.edu	36	16	31000022	31000022	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31000022G>A	uc002eap.1	+	c.4876G>A	c.(4876-4878)GCC>ACC	p.A1626T		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2														0.425743	119.316816	119.799948	43	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31000022	31000022	18657	16	G	A	A	34	34	ZNF646	A	2	2
BCKDK	10295	broad.mit.edu	36	16	31028544	31028544	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31028544G>A	uc002eaw.2	+	c.314G>A	c.(313-315)CGC>CAC	p.R105H	BCKDK_uc002eav.2_Missense_Mutation_p.R105H|BCKDK_uc010cah.1_Non-coding_Transcript|BCKDK_uc010cai.1_Missense_Mutation_p.R105H	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	105					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity				0										83				0.268519	66.45728	71.663554	29	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31028544	31028544	1382	16	G	A	A	38	38	BCKDK	A	1	1
MYST1	84148	broad.mit.edu	36	16	31048889	31048889	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31048889G>T	uc002eax.1	+	c.822G>T	c.(820-822)AAG>AAT	p.K274N	MYST1_uc002eay.1_Missense_Mutation_p.K274N|MYST1_uc002eaz.1_Missense_Mutation_p.K116N|MYST1_uc002eba.2_Missense_Mutation_p.K58N|MYST1_uc002ebb.1_Non-coding_Transcript	NM_182958	NP_892003	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 2	274					chromatin assembly or disassembly|histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|MLL1 complex|MSL complex	chromatin binding|histone acetyltransferase activity|metal ion binding|transcription factor binding			ovary(1)	1														0.408696	721.431286	726.497603	282	408	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31048889	31048889	10497	16	G	T	T	33	33	MYST1	T	3	3
PRSS36	146547	broad.mit.edu	36	16	31058088	31058088	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31058088G>A	uc002ebd.1	-	c.2440C>T	c.(2440-2442)CCC>TCC	p.P814S		NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36	814					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1														0.230769	44.72842	50.77468	21	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31058088	31058088	13075	16	G	A	A	42	42	PRSS36	A	2	2
PRSS36	146547	broad.mit.edu	36	16	31061639	31061639	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31061639G>A	uc002ebd.1	-	c.1277C>T	c.(1276-1278)TCG>TTG	p.S426L		NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36	426	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1														0.25	9.19247	10.101502	4	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31061639	31061639	13075	16	G	A	A	37	37	PRSS36	A	1	1
PRSS36	146547	broad.mit.edu	36	16	31064722	31064722	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31064722C>A	uc002ebd.1	-	c.609G>T	c.(607-609)GAG>GAT	p.E203D		NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36	203	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1														0.195876	30.952467	39.342883	19	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31064722	31064722	13075	16	C	A	A	24	24	PRSS36	A	3	3
ZNF205	7755	broad.mit.edu	36	16	3109310	3109310	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3109310G>A	uc002cub.1	+	c.648G>A	c.(646-648)GGG>GGA	p.G216G	ZNF205_uc002cua.1_Silent_p.G216G	NM_001042428	NP_003447	O95201	ZN205_HUMAN	zinc finger protein 205	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0														0.22807	85.3285	96.937332	39	132	GG		KEEP	---	---	---	---	capture			Silent	SNP	3109310	3109310	18355	16	G	A	A	41	41	ZNF205	A	2	2
PYDC1	260434	broad.mit.edu	36	16	31135692	31135692	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31135692G>A	uc002ebo.1	-	c.159C>T	c.(157-159)ACC>ACT	p.T53T	TRIM72_uc002ebn.1_Intron|PYDC1_uc010cal.1_Silent_p.T53T	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	53	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding				0														0.466667	141.76543	141.866513	49	56	GG		KEEP	---	---	---	---	capture			Silent	SNP	31135692	31135692	13316	16	G	A	A	39	39	PYDC1	A	1	1
ITGAM	3684	broad.mit.edu	36	16	31216399	31216399	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31216399C>A	uc002ebr.1	+	c.1420C>A	c.(1420-1422)CTG>ATG	p.L474M	ITGAM_uc002ebq.1_Missense_Mutation_p.L474M|ITGAM_uc010cam.1_Missense_Mutation_p.P77H|ITGAM_uc010can.1_De_novo_Start_InFrame	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M precursor	474	FG-GAP 5.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.456456	398.622905	399.174941	152	181	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31216399	31216399	8191	16	C	A	A	24	24	ITGAM	A	3	3
ITGAM	3684	broad.mit.edu	36	16	31240386	31240386	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31240386G>A	uc002ebr.1	+	c.1942G>A	c.(1942-1944)GAA>AAA	p.E648K	ITGAM_uc002ebq.1_Missense_Mutation_p.E647K|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.1_Missense_Mutation_p.E53K|ITGAM_uc002ebs.1_Missense_Mutation_p.E53K	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M precursor	647	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.187179	137.558948	173.305036	73	317	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31240386	31240386	8191	16	G	A	A	41	41	ITGAM	A	2	2
ZNF213	7760	broad.mit.edu	36	16	3127308	3127308	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3127308A>T	uc010btg.1	+	c.26A>T	c.(25-27)GAC>GTC	p.D9V	ZNF213_uc002cud.1_Non-coding_Transcript|ZNF213_uc010btf.1_Missense_Mutation_p.D9V|ZNF213_uc010bth.1_Missense_Mutation_p.D9V	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	9					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.495935	174.882849	174.88435	61	62	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3127308	3127308	18360	16	A	T	T	10	10	ZNF213	T	4	4
ITGAX	3687	broad.mit.edu	36	16	31279993	31279993	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31279993G>T	uc002ebt.2	+	c.970G>T	c.(970-972)GAT>TAT	p.D324Y	ITGAX_uc002ebu.1_Missense_Mutation_p.D324Y	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	324	VWFA.|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														0.193038	110.053306	137.898123	61	255	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31279993	31279993	8193	16	G	T	T	33	33	ITGAX	T	3	3
ITGAX	3687	broad.mit.edu	36	16	31282130	31282130	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31282130G>T	uc002ebt.2	+	c.1644G>T	c.(1642-1644)GAG>GAT	p.E548D	ITGAX_uc002ebu.1_Missense_Mutation_p.E548D	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	548	Extracellular (Potential).|FG-GAP 6.				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														0.195195	111.732557	140.656712	65	268	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31282130	31282130	8193	16	G	T	T	33	33	ITGAX	T	3	3
ITGAX	3687	broad.mit.edu	36	16	31290204	31290204	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31290204C>T	uc002ebt.2	+	c.1890C>T	c.(1888-1890)GCC>GCT	p.A630A	ITGAX_uc002ebu.1_Silent_p.A630A	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	630	FG-GAP 7.|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														0.186047	35.669309	43.597727	16	70	CC		KEEP	---	---	---	---	capture			Silent	SNP	31290204	31290204	8193	16	C	T	T	23	23	ITGAX	T	1	1
ZNF213	7760	broad.mit.edu	36	16	3131119	3131119	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3131119C>T	uc010btg.1	+	c.1150C>T	c.(1150-1152)CGC>TGC	p.R384C	ZNF213_uc002cud.1_Non-coding_Transcript|ZNF213_uc010btf.1_3'UTR|ZNF213_uc010bth.1_Missense_Mutation_p.R384C	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	384	C2H2-type 3.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.444444	129.383115	129.649786	44	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3131119	3131119	18360	16	C	T	T	23	23	ZNF213	T	1	1
ITGAD	3681	broad.mit.edu	36	16	31322417	31322417	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31322417C>T	uc010cap.1	+	c.654C>T	c.(652-654)ATC>ATT	p.I218I	ITGAD_uc002ebv.1_Silent_p.I218I|ITGAD_uc002ebw.1_Silent_p.I29I	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	218	Extracellular (Potential).|VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.445498	257.124923	257.669116	94	117	CC		KEEP	---	---	---	---	capture			Silent	SNP	31322417	31322417	8188	16	C	T	T	31	31	ITGAD	T	1	1
ITGAD	3681	broad.mit.edu	36	16	31329260	31329260	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31329260G>A	uc010cap.1	+	c.1127G>A	c.(1126-1128)GGA>GAA	p.G376E	ITGAD_uc002ebv.1_Missense_Mutation_p.G376E	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	376	Extracellular (Potential).|FG-GAP 3.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.208589	140.607679	166.260222	68	258	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31329260	31329260	8188	16	G	A	A	41	41	ITGAD	A	2	2
ITGAD	3681	broad.mit.edu	36	16	31329618	31329618	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31329618G>A	uc010cap.1	+	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	ITGAD_uc002ebv.1_Missense_Mutation_p.R425H	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	425	FG-GAP 4.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.197531	58.8649	72.631505	32	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31329618	31329618	8188	16	G	A	A	38	38	ITGAD	A	1	1
ITGAD	3681	broad.mit.edu	36	16	31336922	31336922	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31336922G>A	uc010cap.1	+	c.2528G>A	c.(2527-2529)CGC>CAC	p.R843H	ITGAD_uc002ebv.1_Missense_Mutation_p.R842H	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	842	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.235741	134.765695	151.529775	62	201	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31336922	31336922	8188	16	G	A	A	38	38	ITGAD	A	1	1
ARMC5	79798	broad.mit.edu	36	16	31381169	31381169	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31381169G>A	uc002ecc.1	+	c.800G>A	c.(799-801)CGA>CAA	p.R267Q	ARMC5_uc002ecb.1_Missense_Mutation_p.R267Q|ARMC5_uc002eca.2_Missense_Mutation_p.R267Q	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	267	ARM 3.						binding			pancreas(1)	1														0.43956	110.987704	111.27687	40	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31381169	31381169	972	16	G	A	A	37	37	ARMC5	A	1	1
TGFB1I1	7041	broad.mit.edu	36	16	31393042	31393042	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31393042G>T	uc002ecd.1	+	c.394G>T	c.(394-396)GAT>TAT	p.D132Y	TGFB1I1_uc002ece.1_Missense_Mutation_p.D115Y|TGFB1I1_uc010caq.1_Intron	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	132	Transcription activation (By similarity).|Interaction with PTK2 (By similarity).|Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0														0.173077	27.083743	37.591513	18	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31393042	31393042	16345	16	G	T	T	33	33	TGFB1I1	T	3	3
TGFB1I1	7041	broad.mit.edu	36	16	31393505	31393505	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31393505G>A	uc002ecd.1	+	c.640G>A	c.(640-642)GAC>AAC	p.D214N	TGFB1I1_uc002ece.1_Missense_Mutation_p.D197N|TGFB1I1_uc010caq.1_Missense_Mutation_p.D53N	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	214	LD motif 4.|Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0														0.35	52.753354	53.945939	21	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31393505	31393505	16345	16	G	A	A	37	37	TGFB1I1	A	1	1
ZNF267	10308	broad.mit.edu	36	16	31833371	31833371	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31833371G>A	uc002ecs.2	+	c.300G>A	c.(298-300)TCG>TCA	p.S100S		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	100					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3														0.196891	74.334156	90.861437	38	155	GG		KEEP	---	---	---	---	capture			Silent	SNP	31833371	31833371	18398	16	G	A	A	37	37	ZNF267	A	1	1
ZNF267	10308	broad.mit.edu	36	16	31833813	31833813	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31833813G>A	uc002ecs.2	+	c.742G>A	c.(742-744)GAA>AAA	p.E248K		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	248					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3														0.201754	48.048368	57.484904	23	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31833813	31833813	18398	16	G	A	A	33	33	ZNF267	A	2	2
ZNF267	10308	broad.mit.edu	36	16	31834954	31834954	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31834954G>A	uc002ecs.2	+	c.1883G>A	c.(1882-1884)GGC>GAC	p.G628D		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	628					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3														0.216667	56.181838	65.070846	26	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31834954	31834954	18398	16	G	A	A	42	42	ZNF267	A	2	2
ZNF200	7752	broad.mit.edu	36	16	3214046	3214046	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3214046G>A	uc002cuj.1	-	c.1035C>T	c.(1033-1035)TTC>TTT	p.F345F	ZNF200_uc002cui.1_Silent_p.F344F|ZNF200_uc002cuk.1_Silent_p.F345F|ZNF200_uc002cul.2_Silent_p.F344F|ZNF200_uc002cum.2_Silent_p.F344F|ZNF200_uc010bti.1_Silent_p.F344F	NM_003454	NP_932354	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	345	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0														0.231908	312.038552	352.091927	141	467	GG		KEEP	---	---	---	---	capture			Silent	SNP	3214046	3214046	18353	16	G	A	A	41	41	ZNF200	A	2	2
MEFV	4210	broad.mit.edu	36	16	3233193	3233193	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3233193C>T	uc002cun.1	-	c.2295G>A	c.(2293-2295)AAG>AAA	p.K765K		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	765	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5					Colchicine(DB01394)									0.206522	82.946862	97.64021	38	146	CC		KEEP	---	---	---	---	capture			Silent	SNP	3233193	3233193	9848	16	C	T	T	32	32	MEFV	T	2	2
MEFV	4210	broad.mit.edu	36	16	3234523	3234523	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3234523G>T	uc002cun.1	-	c.1677C>A	c.(1675-1677)CTC>CTA	p.L559L		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	559					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5					Colchicine(DB01394)									0.204225	108.174352	131.253726	58	226	GG		KEEP	---	---	---	---	capture			Silent	SNP	3234523	3234523	9848	16	G	T	T	41	41	MEFV	T	3	3
MEFV	4210	broad.mit.edu	36	16	3237235	3237235	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3237235C>A	uc002cun.1	-	c.1369G>T	c.(1369-1371)GCG>TCG	p.A457S		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	457					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5					Colchicine(DB01394)									0.343348	201.3029	206.366024	80	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3237235	3237235	9848	16	C	A	A	28	28	MEFV	A	3	3
ZNF263	10127	broad.mit.edu	36	16	3280106	3280106	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3280106C>T	uc002cuq.1	+	c.1599C>T	c.(1597-1599)CTC>CTT	p.L533L	ZNF263_uc002cur.1_5'Flank	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	533	C2H2-type 5.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.424528	124.958409	125.484413	45	61	CC		KEEP	---	---	---	---	capture			Silent	SNP	3280106	3280106	18395	16	C	T	T	31	31	ZNF263	T	1	1
TIGD7	91151	broad.mit.edu	36	16	3289679	3289679	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3289679G>A	uc002cus.1	-	c.937C>T	c.(937-939)CGA>TGA	p.R313*	ZNF263_uc002cur.1_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	313	DDE.					chromosome, centromeric region|nucleus	DNA binding				0														0.217391	62.673746	72.839821	30	108	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	3289679	3289679	16430	16	G	A	A	37	37	TIGD7	A	5	1
ZNF75A	7627	broad.mit.edu	36	16	3307427	3307427	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3307427C>T	uc002cut.2	+	c.448C>T	c.(448-450)CGT>TGT	p.R150C	ZNF75A_uc002cuv.2_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.455224	174.456587	174.690769	61	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3307427	3307427	18731	16	C	T	T	31	31	ZNF75A	T	1	1
ZNF75A	7627	broad.mit.edu	36	16	3307770	3307770	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3307770G>A	uc002cut.2	+	c.791G>A	c.(790-792)CGG>CAG	p.R264Q	ZNF75A_uc002cuv.2_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	264	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.259804	122.885046	133.543004	53	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3307770	3307770	18731	16	G	A	A	39	39	ZNF75A	A	1	1
OR2C1	4993	broad.mit.edu	36	16	3346306	3346306	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3346306G>A	uc002cuw.1	+	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.229358	50.924718	58.248997	25	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3346306	3346306	11398	16	G	A	A	38	38	OR2C1	A	1	1
ZNF174	7727	broad.mit.edu	36	16	3392277	3392277	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3392277T>G	uc002cvc.1	+	c.272T>G	c.(271-273)ATG>AGG	p.M91R	ZNF434_uc002cux.2_5'Flank|ZNF434_uc002cuy.2_5'Flank|ZNF434_uc002cuz.1_5'Flank|ZNF174_uc002cva.1_Missense_Mutation_p.M91R|ZNF174_uc002cvb.1_Missense_Mutation_p.M91R	NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	91	SCAN box.				negative regulation of gene-specific transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	promoter binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|zinc ion binding				0														0.233161	124.082209	136.666241	45	148	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3392277	3392277	18335	16	T	G	G	51	51	ZNF174	G	4	4
ZNF597	146434	broad.mit.edu	36	16	3426451	3426451	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3426451G>A	uc002cvd.1	-	c.1249C>T	c.(1249-1251)CGA>TGA	p.R417*		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	417	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.195312	49.200241	60.282366	25	103	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	3426451	3426451	18622	16	G	A	A	38	38	ZNF597	A	5	1
NAT15	79903	broad.mit.edu	36	16	3473507	3473507	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3473507C>T	uc002cvh.2	+	c.481C>T	c.(481-483)CTC>TTC	p.L161F	NAT15_uc010btk.1_Missense_Mutation_p.L96F|NAT15_uc010btl.1_Intron|NAT15_uc002cvf.2_Missense_Mutation_p.L161F|NAT15_uc010btm.1_Missense_Mutation_p.L161F|NAT15_uc002cvg.1_Missense_Mutation_p.L161F	NM_001083601	NP_001077070	Q9H7X0	NAT15_HUMAN	N-acetyltransferase 15	161	N-acetyltransferase.						N-acetyltransferase activity				0														0.150794	30.23501	44.965999	19	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3473507	3473507	10572	16	C	T	T	32	32	NAT15	T	2	2
NLRC3	197358	broad.mit.edu	36	16	3547643	3547643	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3547643T>G	uc010btn.1	-	c.2051A>C	c.(2050-2052)AAA>ACA	p.K684T	NLRC3_uc010bto.1_5'Flank	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	684	LRR 3.				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														0.28169	59.476562	62.512908	20	51	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3547643	3547643	10871	16	T	G	G	64	64	NLRC3	G	4	4
TRAP1	10131	broad.mit.edu	36	16	3652026	3652026	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3652026C>T	uc002cvt.2	-	c.1903G>A	c.(1903-1905)GCA>ACA	p.A635T	TRAP1_uc002cvs.1_Missense_Mutation_p.A426T	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	635					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding				0		Ovarian(90;0.0261)												0.455696	98.584784	98.720403	36	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3652026	3652026	16999	16	C	T	T	27	27	TRAP1	T	1	1
TRAP1	10131	broad.mit.edu	36	16	3664346	3664346	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3664346C>T	uc002cvt.2	-	c.1039G>A	c.(1039-1041)GAC>AAC	p.D347N	TRAP1_uc002cvs.1_Missense_Mutation_p.D138N	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	347					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding				0		Ovarian(90;0.0261)												0.217391	52.452567	60.894797	25	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3664346	3664346	16999	16	C	T	T	31	31	TRAP1	T	1	1
CREBBP	1387	broad.mit.edu	36	16	3718853	3718853	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3718853C>T	uc002cvv.1	-	c.6196G>A	c.(6196-6198)GCT>ACT	p.A2066T	CREBBP_uc002cvw.1_Missense_Mutation_p.A2028T	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2066					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			ovary(6)|skin(2)|pancreas(1)|lung(1)	10		Ovarian(90;0.0266)								748				0.290698	56.327012	59.713533	25	61	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	Missense_Mutation	SNP	3718853	3718853	4000	16	C	T	T	27	27	CREBBP	T	1	1
CREBBP	1387	broad.mit.edu	36	16	3768127	3768127	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3768127C>T	uc002cvv.1	-	c.1999G>A	c.(1999-2001)GAA>AAA	p.E667K	CREBBP_uc002cvw.1_Missense_Mutation_p.E629K	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	667					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			ovary(6)|skin(2)|pancreas(1)|lung(1)	10		Ovarian(90;0.0266)								748				0.177143	121.821036	156.215301	62	288	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	Missense_Mutation	SNP	3768127	3768127	4000	16	C	T	T	32	32	CREBBP	T	2	2
CREBBP	1387	broad.mit.edu	36	16	3840988	3840988	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3840988C>T	uc002cvv.1	-	c.109G>A	c.(109-111)GAA>AAA	p.E37K	CREBBP_uc002cvw.1_Missense_Mutation_p.E37K	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	37					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			ovary(6)|skin(2)|pancreas(1)|lung(1)	10		Ovarian(90;0.0266)								748				0.213953	101.524573	117.779916	46	169	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	Missense_Mutation	SNP	3840988	3840988	4000	16	C	T	T	30	30	CREBBP	T	2	2
ADCY9	115	broad.mit.edu	36	16	3956676	3956676	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3956676C>T	uc002cvx.1	-	c.3163G>A	c.(3163-3165)GAC>AAC	p.D1055N		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1055	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)	5														0.232558	213.783669	241.952127	100	330	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3956676	3956676	302	16	C	T	T	29	29	ADCY9	T	2	2
DECR2	26063	broad.mit.edu	36	16	396384	396384	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:396384C>T	uc002chb.1	+	c.187C>T	c.(187-189)CCG>TCG	p.P63S	DECR2_uc002chc.1_5'UTR|DECR2_uc010bqv.1_Intron|DECR2_uc002chd.1_5'UTR|DECR2_uc002che.1_5'Flank	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	63					oxidation-reduction process	peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)												0.392405	83.603148	84.405061	31	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	396384	396384	4554	16	C	T	T	26	26	DECR2	T	2	2
ADCY9	115	broad.mit.edu	36	16	3967594	3967594	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3967594G>A	uc002cvx.1	-	c.2718C>T	c.(2716-2718)GTC>GTT	p.V906V		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	906	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)	5														0.380952	19.19124	19.453193	8	13	GG		KEEP	---	---	---	---	capture			Silent	SNP	3967594	3967594	302	16	G	A	A	37	37	ADCY9	A	1	1
ADCY9	115	broad.mit.edu	36	16	4104023	4104023	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4104023C>A	uc002cvx.1	-	c.1422G>T	c.(1420-1422)GAG>GAT	p.E474D		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	474	Cytoplasmic (Potential).|Guanylate cyclase 1.				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)	5														0.23662	180.781864	203.333582	84	271	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4104023	4104023	302	16	C	A	A	28	28	ADCY9	A	3	3
TFAP4	7023	broad.mit.edu	36	16	4262686	4262686	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4262686C>T	uc002cwb.1	-	c.63G>A	c.(61-63)GAG>GAA	p.E21E		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	21					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of gene-specific transcription|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity			ovary(1)	1														0.19	38.389758	47.359366	19	81	CC		KEEP	---	---	---	---	capture			Silent	SNP	4262686	4262686	16320	16	C	T	T	32	32	TFAP4	T	2	2
CORO7	79585	broad.mit.edu	36	16	4378058	4378058	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4378058C>T	uc002cwf.1	-	c.715G>A	c.(715-717)GAA>AAA	p.E239K	CORO7_uc002cwe.1_Non-coding_Transcript|CORO7_uc002cwg.2_Missense_Mutation_p.E19K|CORO7_uc002cwh.2_Missense_Mutation_p.E239K|CORO7_uc002cwi.1_Missense_Mutation_p.E19K|CORO7_uc010btp.1_Missense_Mutation_p.E19K	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	239	WD 4.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0														0.225806	29.515917	33.799773	14	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4378058	4378058	3897	16	C	T	T	31	31	CORO7	T	1	1
NMRAL1	57407	broad.mit.edu	36	16	4456348	4456348	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4456348G>A	uc002cwp.1	-	c.444C>T	c.(442-444)AGC>AGT	p.S148S	NMRAL1_uc002cwm.1_Silent_p.S112S|NMRAL1_uc002cwn.1_Silent_p.S112S|NMRAL1_uc002cwo.1_Silent_p.S112S	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	112						nucleus|perinuclear region of cytoplasm	binding|catalytic activity			kidney(1)	1														0.173077	31.698449	42.187875	18	86	GG		KEEP	---	---	---	---	capture			Silent	SNP	4456348	4456348	10904	16	G	A	A	38	38	NMRAL1	A	1	1
HMOX2	3163	broad.mit.edu	36	16	4499506	4499506	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4499506T>C	uc002cws.2	+	c.951T>C	c.(949-951)CGT>CGC	p.R317R	HMOX2_uc010bts.1_Silent_p.R263R|HMOX2_uc002cwr.2_Silent_p.R263R|HMOX2_uc002cwq.2_Silent_p.R263R|HMOX2_uc010btt.1_Silent_p.R263R|HMOX2_uc002cwt.1_Silent_p.R263R	NM_002134	NP_002125	P30519	HMOX2_HUMAN	heme oxygenase (decyclizing) 2	263					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding				0					NADH(DB00157)									0.226843	325.495701	361.675062	120	409	TT		KEEP	---	---	---	---	capture			Silent	SNP	4499506	4499506	7536	16	T	C	C	57	57	HMOX2	C	4	4
MYLK3	91807	broad.mit.edu	36	16	45321037	45321037	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:45321037C>A	uc002eei.2	-	c.1632G>T	c.(1630-1632)AAG>AAT	p.K544N	MYLK3_uc002eej.1_Missense_Mutation_p.K203N	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	544	Protein kinase.	ATP (By similarity).			cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|protein phosphorylation|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)								207				0.461988	204.167401	204.385978	79	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45321037	45321037	10453	16	C	A	A	32	32	MYLK3	A	3	3
NETO2	81831	broad.mit.edu	36	16	45677729	45677729	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:45677729G>T	uc002eer.1	-	c.906C>A	c.(904-906)TTC>TTA	p.F302L	NETO2_uc002eeq.1_Intron|NETO2_uc002ees.1_Missense_Mutation_p.F295L	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	302	Extracellular (Potential).|LDL-receptor class A.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)												0.153846	26.099067	41.022402	20	110	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45677729	45677729	10739	16	G	T	T	33	33	NETO2	T	3	3
NETO2	81831	broad.mit.edu	36	16	45700922	45700922	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:45700922G>A	uc002eer.1	-	c.856C>T	c.(856-858)CGA>TGA	p.R286*	NETO2_uc002eeq.1_Nonsense_Mutation_p.R59*|NETO2_uc002ees.1_Nonsense_Mutation_p.R279*	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	286	Extracellular (Potential).|CUB 2.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)												0.423077	244.963958	246.037151	88	120	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	45700922	45700922	10739	16	G	A	A	37	37	NETO2	A	5	1
NETO2	81831	broad.mit.edu	36	16	45714319	45714319	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:45714319C>T	uc002eer.1	-	c.487G>A	c.(487-489)GAC>AAC	p.D163N	NETO2_uc002ees.1_Missense_Mutation_p.D163N	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	163	Extracellular (Potential).					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)												0.393939	313.35405	315.950022	104	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45714319	45714319	10739	16	C	T	T	32	32	NETO2	T	2	2
PHKB	5257	broad.mit.edu	36	16	46251934	46251934	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46251934C>T	uc002eev.2	+	c.1988C>T	c.(1987-1989)GCT>GTT	p.A663V	PHKB_uc002eeu.2_Missense_Mutation_p.A656V	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	663					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)												0.416667	272.267918	273.653813	95	133	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46251934	46251934	12269	16	C	T	T	28	28	PHKB	T	2	2
MGRN1	23295	broad.mit.edu	36	16	4640404	4640404	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4640404G>T	uc002cxb.1	+	c.126G>T	c.(124-126)GAG>GAT	p.E42D	MGRN1_uc002cwz.1_Missense_Mutation_p.E42D|MGRN1_uc010btw.1_Missense_Mutation_p.E42D|MGRN1_uc002cxa.1_Missense_Mutation_p.E42D|MGRN1_uc010btx.1_Missense_Mutation_p.E42D	NM_015246	NP_056061	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 1	42					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1														0.120275	28.302341	69.495295	35	256	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4640404	4640404	9949	16	G	T	T	33	33	MGRN1	T	3	3
ABCC12	94160	broad.mit.edu	36	16	46696704	46696704	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46696704G>A	uc002efc.1	-	c.2520C>T	c.(2518-2520)GGC>GGT	p.G840G	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	840	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2		all_cancers(37;0.0474)|all_lung(18;0.047)												0.526316	138.135992	138.192261	50	45	GG		KEEP	---	---	---	---	capture			Silent	SNP	46696704	46696704	53	16	G	A	A	38	38	ABCC12	A	1	1
ABCC12	94160	broad.mit.edu	36	16	46698763	46698763	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46698763G>A	uc002efc.1	-	c.2446C>T	c.(2446-2448)CTG>TTG	p.L816L	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	816	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2		all_cancers(37;0.0474)|all_lung(18;0.047)												0.219048	147.179066	170.059391	69	246	GG		KEEP	---	---	---	---	capture			Silent	SNP	46698763	46698763	53	16	G	A	A	34	34	ABCC12	A	2	2
ABCC12	94160	broad.mit.edu	36	16	46737785	46737785	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46737785G>A	uc002efc.1	-	c.52C>T	c.(52-54)CGG>TGG	p.R18W	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.R18W	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	18						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2		all_cancers(37;0.0474)|all_lung(18;0.047)												0.217391	79.812222	93.359849	40	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46737785	46737785	53	16	G	A	A	38	38	ABCC12	A	1	1
ABCC11	85320	broad.mit.edu	36	16	46766714	46766714	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46766714G>T	uc002eff.1	-	c.3654C>A	c.(3652-3654)CTC>CTA	p.L1218L	ABCC11_uc002efg.1_Silent_p.L1218L|ABCC11_uc002efh.1_Silent_p.L1218L|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1218	ABC transporter 2.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.425	133.89075	134.482336	51	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	46766714	46766714	52	16	G	T	T	33	33	ABCC11	T	3	3
ABCC11	85320	broad.mit.edu	36	16	46789412	46789412	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46789412G>A	uc002eff.1	-	c.2285C>T	c.(2284-2286)TCC>TTC	p.S762F	ABCC11_uc002efg.1_Missense_Mutation_p.S762F|ABCC11_uc002efh.1_Missense_Mutation_p.S762F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	762	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.450292	225.049692	225.418257	77	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46789412	46789412	52	16	G	A	A	41	41	ABCC11	A	2	2
ABCC11	85320	broad.mit.edu	36	16	46796911	46796911	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46796911G>A	uc002eff.1	-	c.1719C>T	c.(1717-1719)AGC>AGT	p.S573S	ABCC11_uc002efg.1_Silent_p.S573S|ABCC11_uc002efh.1_Silent_p.S573S	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	573	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.365942	255.174583	259.545494	101	175	GG		KEEP	---	---	---	---	capture			Silent	SNP	46796911	46796911	52	16	G	A	A	42	42	ABCC11	A	2	2
ABCC11	85320	broad.mit.edu	36	16	46815700	46815700	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46815700G>A	uc002eff.1	-	c.537C>T	c.(535-537)CTC>CTT	p.L179L	ABCC11_uc002efg.1_Silent_p.L179L|ABCC11_uc002efh.1_Silent_p.L179L	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	179	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.168675	49.098568	66.355827	28	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	46815700	46815700	52	16	G	A	A	37	37	ABCC11	A	1	1
ANKS3	124401	broad.mit.edu	36	16	4689152	4689152	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4689152G>A	uc002cxj.1	-	c.1311C>T	c.(1309-1311)ATC>ATT	p.I437I	ANKS3_uc002cxl.1_Silent_p.I264I|ANKS3_uc002cxk.1_Silent_p.I308I|ANKS3_uc002cxh.1_Non-coding_Transcript|ANKS3_uc002cxi.1_Silent_p.I364I	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	437	SAM.										0														0.511111	129.939105	129.948525	46	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	4689152	4689152	698	16	G	A	A	37	37	ANKS3	A	1	1
LONP2	83752	broad.mit.edu	36	16	46894674	46894674	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46894674T>C	uc002efi.1	+	c.1752T>C	c.(1750-1752)CAT>CAC	p.H584H	LONP2_uc002efj.1_Silent_p.H540H	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	584					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0														0.44358	372.540107	373.248441	114	143	TT		KEEP	---	---	---	---	capture			Silent	SNP	46894674	46894674	9265	16	T	C	C	49	49	LONP2	C	4	4
ANKS3	124401	broad.mit.edu	36	16	4691542	4691542	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4691542T>A	uc002cxj.1	-	c.1013A>T	c.(1012-1014)GAA>GTA	p.E338V	ANKS3_uc002cxl.1_Missense_Mutation_p.E165V|ANKS3_uc002cxk.1_Missense_Mutation_p.E209V|ANKS3_uc002cxm.1_Missense_Mutation_p.E132V|ANKS3_uc002cxh.1_5'Flank|ANKS3_uc002cxi.1_Missense_Mutation_p.E265V	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	338	Ser-rich.										0														0.261905	21.299431	23.459897	11	31	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4691542	4691542	698	16	T	A	A	62	62	ANKS3	A	4	4
C16orf71	146562	broad.mit.edu	36	16	4730338	4730338	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4730338C>T	uc002cxn.1	+	c.460C>T	c.(460-462)CTG>TTG	p.L154L		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	154										central_nervous_system(1)	1														0.216216	114.681378	131.173572	48	174	CC		KEEP	---	---	---	---	capture			Silent	SNP	4730338	4730338	1883	16	C	T	T	24	24	C16orf71	T	2	2
C16orf71	146562	broad.mit.edu	36	16	4737507	4737507	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4737507C>T	uc002cxn.1	+	c.1443C>T	c.(1441-1443)CTC>CTT	p.L481L		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	481										central_nervous_system(1)	1														0.3	73.088612	76.305773	27	63	CC		KEEP	---	---	---	---	capture			Silent	SNP	4737507	4737507	1883	16	C	T	T	32	32	C16orf71	T	2	2
ZNF500	26048	broad.mit.edu	36	16	4742888	4742888	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4742888G>A	uc002cxp.1	-	c.933C>T	c.(931-933)CCC>CCT	p.P311P	ZNF500_uc002cxo.1_Silent_p.P103P	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	311					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2														0.20354	40.943592	50.206437	23	90	GG		KEEP	---	---	---	---	capture			Silent	SNP	4742888	4742888	18542	16	G	A	A	43	43	ZNF500	A	2	2
SEPT12	124404	broad.mit.edu	36	16	4773731	4773731	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4773731A>G	uc002cxq.1	-	c.550T>C	c.(550-552)TGC>CGC	p.C184R	SEPT12_uc010bty.1_Non-coding_Transcript|SEPT12_uc002cxr.1_Missense_Mutation_p.C138R	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12	184					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity				0														0.356164	60.825046	62.198338	26	47	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4773731	4773731	14548	16	A	G	G	6	6	SEPT12	G	4	4
GLYR1	84656	broad.mit.edu	36	16	4822190	4822190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4822190G>A	uc002cxx.2	-	c.328C>T	c.(328-330)CGA>TGA	p.R110*	GLYR1_uc002cxy.2_Non-coding_Transcript|GLYR1_uc002cxz.1_Nonsense_Mutation_p.R41*|GLYR1_uc002cya.2_Nonsense_Mutation_p.R110*	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	110					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0														0.19544	117.28738	143.88641	60	247	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	4822190	4822190	6752	16	G	A	A	37	37	GLYR1	A	5	1
ZNF423	23090	broad.mit.edu	36	16	48227164	48227164	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48227164C>A	uc002efs.1	-	c.3400G>T	c.(3400-3402)GAC>TAC	p.D1134Y		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1134	C2H2-type 26.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.396226	214.704051	216.715782	84	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48227164	48227164	18491	16	C	A	A	32	32	ZNF423	A	3	3
ZNF423	23090	broad.mit.edu	36	16	48228121	48228121	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48228121C>T	uc002efs.1	-	c.2443G>A	c.(2443-2445)GCC>ACC	p.A815T		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	815	C2H2-type 20.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.387097	92.10017	93.130307	36	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48228121	48228121	18491	16	C	T	T	26	26	ZNF423	T	2	2
ZNF423	23090	broad.mit.edu	36	16	48228200	48228200	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48228200C>A	uc002efs.1	-	c.2364G>T	c.(2362-2364)GAG>GAT	p.E788D		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	788	C2H2-type 19.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.240602	67.427035	75.600784	32	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48228200	48228200	18491	16	C	A	A	32	32	ZNF423	A	3	3
ZNF423	23090	broad.mit.edu	36	16	48229922	48229922	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48229922C>A	uc002efs.1	-	c.642G>T	c.(640-642)AAG>AAT	p.K214N		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	214	C2H2-type 4.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.233766	71.704204	81.711387	36	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48229922	48229922	18491	16	C	A	A	32	32	ZNF423	A	3	3
TMEM188	255919	broad.mit.edu	36	16	48617063	48617063	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48617063C>T	uc002eft.1	+	c.26C>T	c.(25-27)GCC>GTC	p.A9V	TMEM188_uc002efu.1_Intron|TMEM188_uc002efv.1_Intron	NM_153261	NP_694993	Q8N9A8	TM188_HUMAN	transmembrane protein 188	8						integral to membrane					0														0.493151	99.778915	99.782136	36	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48617063	48617063	16644	16	C	T	T	26	26	TMEM188	T	2	2
HEATR3	55027	broad.mit.edu	36	16	48667057	48667057	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48667057C>A	uc002efw.1	+	c.697C>A	c.(697-699)CTG>ATG	p.L233M	HEATR3_uc002efx.1_Missense_Mutation_p.L147M	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	233							binding			ovary(1)	1														0.231231	169.833565	191.948893	77	256	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48667057	48667057	7312	16	C	A	A	28	28	HEATR3	A	3	3
HEATR3	55027	broad.mit.edu	36	16	48675625	48675625	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48675625C>T	uc002efw.1	+	c.1212C>T	c.(1210-1212)TGC>TGT	p.C404C	HEATR3_uc002efx.1_Silent_p.C318C	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	404							binding			ovary(1)	1														0.254144	102.164386	112.096224	46	135	CC		KEEP	---	---	---	---	capture			Silent	SNP	48675625	48675625	7312	16	C	T	T	27	27	HEATR3	T	1	1
PPL	5493	broad.mit.edu	36	16	4874870	4874870	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4874870C>T	uc002cyd.1	-	c.3787G>A	c.(3787-3789)GAA>AAA	p.E1263K		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1263	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4														0.167553	104.285376	143.680383	63	313	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4874870	4874870	12769	16	C	T	T	31	31	PPL	T	1	1
PPL	5493	broad.mit.edu	36	16	4874969	4874969	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4874969C>A	uc002cyd.1	-	c.3688G>T	c.(3688-3690)GAG>TAG	p.E1230*		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1230	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4														0.209581	65.023649	78.074307	35	132	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	4874969	4874969	12769	16	C	A	A	32	32	PPL	A	5	3
ADCY7	113	broad.mit.edu	36	16	48884828	48884828	+	Silent	SNP	C	T	T	rs1064447	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48884828C>T	uc002egd.1	+	c.750C>T	c.(748-750)ATC>ATT	p.I250I	ADCY7_uc002egb.1_Silent_p.I250I|ADCY7_uc002egc.1_Silent_p.I250I	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	250	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding				0		all_cancers(37;0.0127)			Bromocriptine(DB01200)									0.441026	240.918995	241.510093	86	109	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(240;0.195)	Silent	SNP	48884828	48884828	300	16	C	T	T	31	31	ADCY7	T	1	1
PPL	5493	broad.mit.edu	36	16	4890977	4890977	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4890977C>A	uc002cyd.1	-	c.553G>T	c.(553-555)GAC>TAC	p.D185Y		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	185					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4														0.218107	98.175012	115.966031	53	190	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4890977	4890977	12769	16	C	A	A	30	30	PPL	A	3	3
PPL	5493	broad.mit.edu	36	16	4893945	4893945	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4893945G>A	uc002cyd.1	-	c.260C>T	c.(259-261)GCG>GTG	p.A87V		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	87	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4														0.475936	232.328704	232.424424	89	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4893945	4893945	12769	16	G	A	A	38	38	PPL	A	1	1
BRD7	29117	broad.mit.edu	36	16	48959521	48959521	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48959521C>A	uc002ege.1	-	c.239G>T	c.(238-240)AGA>ATA	p.R80I	BRD7_uc002egf.1_Missense_Mutation_p.R80I	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	80	Nuclear localization signal.|Lys-rich.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|promoter binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding				0		all_cancers(37;0.0127)												0.16707	213.872393	300.744752	138	688	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48959521	48959521	1536	16	C	A	A	32	32	BRD7	A	3	3
NOD2	64127	broad.mit.edu	36	16	49323218	49323218	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:49323218G>T	uc002egm.1	+	c.3110G>T	c.(3109-3111)AGA>ATA	p.R1037I		NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	1037					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)	3		all_cancers(37;0.0156)												0.2	58.375428	72.199748	33	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49323218	49323218	10920	16	G	T	T	33	33	NOD2	T	3	3
CYLD	1540	broad.mit.edu	36	16	49341588	49341588	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:49341588G>A	uc002egp.1	+	c.478G>A	c.(478-480)GGA>AGA	p.G160R	CYLD_uc002egn.1_Missense_Mutation_p.G160R|CYLD_uc002ego.2_Missense_Mutation_p.G160R|CYLD_uc010cbs.1_Missense_Mutation_p.G160R|CYLD_uc002egq.1_Missense_Mutation_p.G160R|CYLD_uc002egr.1_Missense_Mutation_p.G160R|CYLD_uc002egs.1_Missense_Mutation_p.G160R	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	160	CAP-Gly 1.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)								247				0.188525	144.418417	177.717535	69	297	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49341588	49341588	4308	16	G	A	A	39	39	CYLD	A	1	1
CYLD	1540	broad.mit.edu	36	16	49343065	49343065	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:49343065A>C	uc002egp.1	+	c.554A>C	c.(553-555)CAG>CCG	p.Q185P	CYLD_uc002egn.1_Missense_Mutation_p.Q185P|CYLD_uc002ego.2_Missense_Mutation_p.Q185P|CYLD_uc010cbs.1_Missense_Mutation_p.Q185P|CYLD_uc002egq.1_Missense_Mutation_p.Q185P|CYLD_uc002egr.1_Missense_Mutation_p.Q185P|CYLD_uc002egs.1_Missense_Mutation_p.Q185P	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	185	CAP-Gly 1.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)								247				0.158311	113.862285	156.043882	60	319	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49343065	49343065	4308	16	A	C	C	7	7	CYLD	C	4	4
CYLD	1540	broad.mit.edu	36	16	49387842	49387842	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:49387842C>T	uc002egp.1	+	c.2793C>T	c.(2791-2793)ATC>ATT	p.I931I	CYLD_uc002egq.1_Silent_p.I928I|CYLD_uc002egr.1_Silent_p.I928I	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	931					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)								247				0.231183	99.922995	112.242858	43	143	CC		KEEP	---	---	---	---	capture			Silent	SNP	49387842	49387842	4308	16	C	T	T	30	30	CYLD	T	2	2
SALL1	6299	broad.mit.edu	36	16	49731962	49731962	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:49731962G>A	uc002egt.2	-	c.1672C>T	c.(1672-1674)CCG>TCG	p.P558S	SALL1_uc010cbt.1_Missense_Mutation_p.P461S|SALL1_uc010cbu.1_Missense_Mutation_p.P558S|SALL1_uc010cbv.1_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform b	558					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|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)				GBM(103;1352 1446 1855 4775 8890)								0.472603	191.851837	191.947774	69	77	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(2;0.24)		Missense_Mutation	SNP	49731962	49731962	14290	16	G	A	A	42	42	SALL1	A	2	2
SEC14L5	9717	broad.mit.edu	36	16	4980887	4980887	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4980887A>G	uc002cye.2	+	c.464A>G	c.(463-465)AAC>AGC	p.N155S		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	155	PRELI/MSF1.					integral to membrane|intracellular	transporter activity				0														0.192308	12.362415	14.65895	5	21	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4980887	4980887	14471	16	A	G	G	2	2	SEC14L5	G	4	4
SEC14L5	9717	broad.mit.edu	36	16	4990872	4990872	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4990872G>A	uc002cye.2	+	c.1075G>A	c.(1075-1077)GAG>AAG	p.E359K		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	359	CRAL-TRIO.					integral to membrane|intracellular	transporter activity				0														0.225806	14.310482	16.45051	7	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4990872	4990872	14471	16	G	A	A	37	37	SEC14L5	A	1	1
SEC14L5	9717	broad.mit.edu	36	16	4995935	4995935	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4995935A>G	uc002cye.2	+	c.1322A>G	c.(1321-1323)GAG>GGG	p.E441G		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	441	CRAL-TRIO.					integral to membrane|intracellular	transporter activity				0														0.466667	49.749671	49.77849	14	16	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4995935	4995935	14471	16	A	G	G	11	11	SEC14L5	G	4	4
ALG1	56052	broad.mit.edu	36	16	5067975	5067975	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:5067975G>A	uc002cyn.1	+	c.696G>A	c.(694-696)CGG>CGA	p.R232R	ALG1_uc002cyj.1_Silent_p.R121R|ALG1_uc002cym.1_Silent_p.R232R|ALG1_uc010bue.1_Silent_p.R121R	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	232	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			ovary(1)	1		Ovarian(90;0.0164)												0.21028	88.352183	104.981809	45	169	GG		KEEP	---	---	---	---	capture			Silent	SNP	5067975	5067975	513	16	G	A	A	42	42	ALG1	A	2	2
ALG1	56052	broad.mit.edu	36	16	5074792	5074792	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:5074792A>C	uc002cyn.1	+	c.1307A>C	c.(1306-1308)AAC>ACC	p.N436T	ALG1_uc002cyj.1_Missense_Mutation_p.N324T|ALG1_uc002cym.1_Missense_Mutation_p.N435T|ALG1_uc010bue.1_Missense_Mutation_p.N324T	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	435	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			ovary(1)	1		Ovarian(90;0.0164)												0.287582	125.340659	131.529795	44	109	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5074792	5074792	513	16	A	C	C	2	2	ALG1	C	4	4
TOX3	27324	broad.mit.edu	36	16	51031119	51031119	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:51031119C>A	uc002egv.1	-	c.1250G>T	c.(1249-1251)AGC>ATC	p.S417I	TOX3_uc002egw.1_Missense_Mutation_p.S379I	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	417					negative regulation of neuron apoptosis|positive regulation of anti-apoptosis	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity|transcription activator activity				0										182				0.382488	233.667357	236.297078	83	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51031119	51031119	16921	16	C	A	A	28	28	TOX3	A	3	3
TOX3	27324	broad.mit.edu	36	16	51031216	51031216	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:51031216G>A	uc002egv.1	-	c.1153C>T	c.(1153-1155)CCC>TCC	p.P385S	TOX3_uc002egw.1_Missense_Mutation_p.P347S	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	385					negative regulation of neuron apoptosis|positive regulation of anti-apoptosis	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity|transcription activator activity				0										182				0.186975	173.184249	216.886705	89	387	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51031216	51031216	16921	16	G	A	A	41	41	TOX3	A	2	2
CHD9	80205	broad.mit.edu	36	16	51847120	51847120	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:51847120C>T	uc002ehb.1	+	c.4137C>T	c.(4135-4137)ATC>ATT	p.I1379I	CHD9_uc002egy.1_Silent_p.I1379I|CHD9_uc002ehc.1_Silent_p.I1379I|CHD9_uc002ehf.1_Silent_p.I493I	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1379					cellular lipid metabolic process|chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleoplasm	ATP binding|chromatin binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)								1157				0.414966	338.078803	339.938392	122	172	CC		KEEP	---	---	---	---	capture			Silent	SNP	51847120	51847120	3466	16	C	T	T	31	31	CHD9	T	1	1
CHD9	80205	broad.mit.edu	36	16	51895296	51895296	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:51895296C>A	uc002ehb.1	+	c.5877C>A	c.(5875-5877)GTC>GTA	p.V1959V	CHD9_uc002egy.1_Silent_p.V1959V|CHD9_uc002ehc.1_Silent_p.V1959V|CHD9_uc002ehf.1_Silent_p.V1073V|CHD9_uc010cbw.1_Intron|CHD9_uc002ehg.1_De_novo_Start_OutOfFrame	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1959					cellular lipid metabolic process|chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleoplasm	ATP binding|chromatin binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)								1157				0.21875	69.625365	81.301337	35	125	CC		KEEP	---	---	---	---	capture			Silent	SNP	51895296	51895296	3466	16	C	A	A	32	32	CHD9	A	3	3
CHD9	80205	broad.mit.edu	36	16	51895793	51895793	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:51895793A>C	uc002ehb.1	+	c.6374A>C	c.(6373-6375)AAA>ACA	p.K2125T	CHD9_uc002egy.1_Missense_Mutation_p.K2125T|CHD9_uc002ehc.1_Missense_Mutation_p.K2125T|CHD9_uc002ehf.1_Missense_Mutation_p.K1239T|CHD9_uc010cbw.1_Intron|CHD9_uc002ehg.1_Missense_Mutation_p.K131T	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2125					cellular lipid metabolic process|chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleoplasm	ATP binding|chromatin binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)								1157				0.139535	11.623276	17.017525	6	37	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51895793	51895793	3466	16	A	C	C	1	1	CHD9	C	4	4
CHD9	80205	broad.mit.edu	36	16	51897690	51897690	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:51897690C>T	uc002ehb.1	+	c.6660C>T	c.(6658-6660)GTC>GTT	p.V2220V	CHD9_uc002egy.1_Silent_p.V2220V|CHD9_uc002ehc.1_Silent_p.V2221V|CHD9_uc002ehf.1_Silent_p.V1334V|CHD9_uc010cbw.1_Silent_p.V286V|CHD9_uc002ehg.1_Silent_p.V227V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2220					cellular lipid metabolic process|chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleoplasm	ATP binding|chromatin binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)								1157				0.3125	116.415441	120.926284	45	99	CC		KEEP	---	---	---	---	capture			Silent	SNP	51897690	51897690	3466	16	C	T	T	31	31	CHD9	T	1	1
RBL2	5934	broad.mit.edu	36	16	52034247	52034247	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:52034247G>A	uc002ehi.2	+	c.548G>A	c.(547-549)CGT>CAT	p.R183H		NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	183					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)	4										265				0.153846	32.856483	49.24558	22	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52034247	52034247	13571	16	G	A	A	40	40	RBL2	A	1	1
AKTIP	64400	broad.mit.edu	36	16	52085650	52085650	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:52085650T>G	uc002ehm.2	-	c.611A>C	c.(610-612)AAA>ACA	p.K204T	AKTIP_uc002ehk.1_Missense_Mutation_p.K204T|AKTIP_uc002ehl.1_Missense_Mutation_p.K204T	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	204					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|post-translational protein modification|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding				0		all_cancers(37;0.14)												0.271429	106.089082	112.684099	38	102	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52085650	52085650	485	16	T	G	G	64	64	AKTIP	G	4	4
AKTIP	64400	broad.mit.edu	36	16	52089989	52089989	+	Silent	SNP	C	T	T	rs61734118	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:52089989C>T	uc002ehm.2	-	c.63G>A	c.(61-63)AAG>AAA	p.K21K	AKTIP_uc002ehk.1_Silent_p.K21K|AKTIP_uc002ehl.1_Silent_p.K21K	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	21					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|post-translational protein modification|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding				0		all_cancers(37;0.14)												0.165919	71.822582	95.44178	37	186	CC		KEEP	---	---	---	---	capture			Silent	SNP	52089989	52089989	485	16	C	T	T	32	32	AKTIP	T	2	2
RPGRIP1L	23322	broad.mit.edu	36	16	52210606	52210606	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:52210606G>A	uc002ehp.1	-	c.3448C>T	c.(3448-3450)CGG>TGG	p.R1150W	RPGRIP1L_uc002ehn.1_Missense_Mutation_p.R519W|RPGRIP1L_uc002eho.2_Missense_Mutation_p.R1070W|RPGRIP1L_uc010cbx.1_Missense_Mutation_p.R1116W	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	1150					negative regulation of G-protein coupled receptor protein signaling pathway	centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)												0.193548	106.176923	130.643293	54	225	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52210606	52210606	14029	16	G	A	A	37	37	RPGRIP1L	A	1	1
RPGRIP1L	23322	broad.mit.edu	36	16	52232514	52232514	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:52232514G>T	uc002ehp.1	-	c.2890C>A	c.(2890-2892)CCA>ACA	p.P964T	RPGRIP1L_uc002ehn.1_Missense_Mutation_p.P379T|RPGRIP1L_uc002eho.2_Missense_Mutation_p.P964T|RPGRIP1L_uc010cbx.1_Missense_Mutation_p.P964T	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	964					negative regulation of G-protein coupled receptor protein signaling pathway	centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)												0.356061	135.583417	137.994774	47	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52232514	52232514	14029	16	G	T	T	44	44	RPGRIP1L	T	3	3
FTO	79068	broad.mit.edu	36	16	52471266	52471266	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:52471266G>T	uc002ehr.1	+	c.985G>T	c.(985-987)GGA>TGA	p.G329*		NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	329					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.218519	123.2593	142.992684	59	211	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	52471266	52471266	6337	16	G	T	T	35	35	FTO	T	5	3
FTO	79068	broad.mit.edu	36	16	52471380	52471380	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:52471380G>T	uc002ehr.1	+	c.1099G>T	c.(1099-1101)GGA>TGA	p.G367*		NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	367					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.238095	72.78496	81.97775	35	112	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	52471380	52471380	6337	16	G	T	T	35	35	FTO	T	5	3
FTO	79068	broad.mit.edu	36	16	52703273	52703273	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:52703273A>G	uc002ehr.1	+	c.1463A>G	c.(1462-1464)GAC>GGC	p.D488G	FTO_uc010cbz.1_Missense_Mutation_p.D89G|FTO_uc002ehs.1_Non-coding_Transcript	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	488					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.431871	608.260845	610.010682	187	246	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52703273	52703273	6337	16	A	G	G	10	10	FTO	G	4	4
IRX5	10265	broad.mit.edu	36	16	53524020	53524020	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:53524020C>T	uc002ehv.1	+	c.359C>T	c.(358-360)GCC>GTC	p.A120V	IRX5_uc010cca.1_Missense_Mutation_p.A172V|IRX5_uc002ehw.1_Missense_Mutation_p.A54V	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	120	Homeobox; TALE-type.				regulation of transcription, DNA-dependent|response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|vitamin D binding				0														0.443299	237.522023	238.064789	86	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53524020	53524020	8151	16	C	T	T	26	26	IRX5	T	2	2
MMP2	4313	broad.mit.edu	36	16	54080009	54080009	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:54080009C>A	uc002ehz.2	+	c.886C>A	c.(886-888)CGC>AGC	p.R296S	MMP2_uc010ccc.1_Missense_Mutation_p.R246S	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	296	Fibronectin type-II 2.|Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(3)|large_intestine(3)|lung(1)|central_nervous_system(1)|kidney(1)	9		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)			Marimastat(DB00786)|Sulindac(DB00605)					275				0.192308	21.41785	26.018208	10	42	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	54080009	54080009	10048	16	C	A	A	23	23	MMP2	A	3	3
LPCAT2	54947	broad.mit.edu	36	16	54174338	54174338	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:54174338A>T	uc002eib.1	+	c.1462A>T	c.(1462-1464)AGT>TGT	p.S488C	LPCAT2_uc002eic.1_Missense_Mutation_p.S218C|LPCAT2_uc002eie.2_5'Flank	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	488	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0														0.462121	167.051873	167.217485	61	71	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54174338	54174338	9284	16	A	T	T	3	3	LPCAT2	T	4	4
SLC6A2	6530	broad.mit.edu	36	16	54291600	54291600	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:54291600G>A	uc002eif.1	+	c.1639G>A	c.(1639-1641)GAC>AAC	p.D547N	SLC6A2_uc010ccd.1_Intron|SLC6A2_uc002eig.1_Missense_Mutation_p.D547N|SLC6A2_uc002eih.1_Missense_Mutation_p.D547N|SLC6A2_uc002eii.1_Missense_Mutation_p.D442N|SLC6A2_uc002eij.1_Missense_Mutation_p.D261N	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	547					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			ovary(2)|pancreas(2)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)									0.2	122.382604	148.331278	62	248	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Missense_Mutation	SNP	54291600	54291600	15180	16	G	A	A	37	37	SLC6A2	A	1	1
CES1	1066	broad.mit.edu	36	16	54412798	54412798	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:54412798C>T	uc002eil.1	-	c.676G>A	c.(676-678)GAA>AAA	p.E226K	CES1_uc002eim.1_Missense_Mutation_p.E225K|CES1_uc002ein.1_Missense_Mutation_p.E225K	NM_001025195	NP_001020366	P23141	EST1_HUMAN	carboxylesterase 1 isoform a precursor	225					regulation of synaptic transmission|response to toxin	endoplasmic reticulum lumen	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0					Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	NSCLC(162;1801 2756 42904 52896)								0.26087	59.554862	64.319072	24	68	CC		KEEP	---	---	---	---	capture		all cancers(182;0.13)|Epithelial(162;0.137)	Missense_Mutation	SNP	54412798	54412798	3402	16	C	T	T	32	32	CES1	T	2	2
AMFR	267	broad.mit.edu	36	16	54999379	54999379	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:54999379C>A	uc002eiy.1	-	c.664G>T	c.(664-666)GAG>TAG	p.E222*		NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	222	Helical; (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						Pancreas(2;144 323 39528)								0.2125	32.826144	38.943746	17	63	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	54999379	54999379	574	16	C	A	A	32	32	AMFR	A	5	3
NUDT21	11051	broad.mit.edu	36	16	55025787	55025787	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55025787C>A	uc002eja.1	-	c.619G>T	c.(619-621)GGA>TGA	p.G207*	NUDT21_uc002eiz.1_Nonsense_Mutation_p.G132*	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	207					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity				0														0.394737	123.144096	124.251578	45	69	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55025787	55025787	11143	16	C	A	A	24	24	NUDT21	A	5	3
NUDT21	11051	broad.mit.edu	36	16	55026198	55026198	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55026198C>A	uc002eja.1	-	c.516G>T	c.(514-516)AAG>AAT	p.K172N	NUDT21_uc002eiz.1_Missense_Mutation_p.K97N	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	172	Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity				0														0.201072	142.482455	173.498611	75	298	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55026198	55026198	11143	16	C	A	A	32	32	NUDT21	A	3	3
MT1B	4490	broad.mit.edu	36	16	55244000	55244000	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55244000C>T	uc002ejs.1	+	c.45C>T	c.(43-45)TGC>TGT	p.C15C		NM_005947	NP_005938	P07438	MT1B_HUMAN	metallothionein 1B	15	Beta.	Divalent metal cation; cluster B.				cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding				0														0.410138	237.031331	238.56149	89	128	CC		KEEP	---	---	---	---	capture			Silent	SNP	55244000	55244000	10291	16	C	T	T	27	27	MT1B	T	1	1
MT1F	4494	broad.mit.edu	36	16	55250561	55250561	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55250561G>A	uc002ejt.1	+	c.170G>A	c.(169-171)TGC>TAC	p.C57Y		NM_005949	NP_005940	P04733	MT1F_HUMAN	metallothionein 1F	57	Alpha.	Divalent metal cation; cluster A.				cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding				0						Colon(159;794 1866 3818 8748 33331)								0.475177	357.361732	357.508331	134	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55250561	55250561	10293	16	G	A	A	46	46	MT1F	A	2	2
C16orf11	146325	broad.mit.edu	36	16	553497	553497	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:553497C>A	uc002chk.1	+	c.202C>A	c.(202-204)CTG>ATG	p.L68M		NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	68										central_nervous_system(1)	1														0.259259	30.420306	33.258939	14	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	553497	553497	1862	16	C	A	A	28	28	C16orf11	A	3	3
NUP93	9688	broad.mit.edu	36	16	55430404	55430404	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55430404C>T	uc002eka.1	+	c.2058C>T	c.(2056-2058)GAC>GAT	p.D686D	NUP93_uc002ekb.1_Silent_p.D563D	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	686					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						Colon(33;610 796 1305 1705 38917)								0.237942	173.779718	193.303434	74	237	CC		KEEP	---	---	---	---	capture			Silent	SNP	55430404	55430404	11177	16	C	T	T	20	20	NUP93	T	2	2
SLC12A3	6559	broad.mit.edu	36	16	55461582	55461582	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55461582C>T	uc002ekd.2	+	c.675C>T	c.(673-675)TTC>TTT	p.F225F	SLC12A3_uc010ccm.1_Silent_p.F225F|SLC12A3_uc010ccn.1_Silent_p.F224F	NM_000339	NP_000330	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 1	225	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)									0.459821	282.73249	283.051402	103	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	55461582	55461582	14879	16	C	T	T	31	31	SLC12A3	T	1	1
CETP	1071	broad.mit.edu	36	16	55573590	55573590	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55573590T>C	uc002eki.2	+	c.1261T>C	c.(1261-1263)TCC>CCC	p.S421P	CETP_uc002ekj.2_Missense_Mutation_p.S361P	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	421					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|reverse cholesterol transport|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)	1														0.421875	167.391719	168.079408	54	74	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55573590	55573590	3410	16	T	C	C	58	58	CETP	C	4	4
NLRC5	84166	broad.mit.edu	36	16	55612283	55612283	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55612283G>T	uc002ekk.1	+	c.158G>T	c.(157-159)AGA>ATA	p.R53I	NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	53					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 gene-specific transcription from RNA polymerase II promoter|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|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)|breast(1)|skin(1)	6		all_neural(199;0.225)												0.367187	115.278541	117.267788	47	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55612283	55612283	10873	16	G	T	T	33	33	NLRC5	T	3	3
NLRC5	84166	broad.mit.edu	36	16	55633460	55633460	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55633460G>A	uc002ekk.1	+	c.3095G>A	c.(3094-3096)GGA>GAA	p.G1032E	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc002ekn.1_Missense_Mutation_p.G781E|NLRC5_uc002ekl.1_Missense_Mutation_p.G837E|NLRC5_uc002ekm.1_Missense_Mutation_p.G837E|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekp.1_Intron|NLRC5_uc002ekq.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1032	LRR 10.				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 gene-specific transcription from RNA polymerase II promoter|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|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)|breast(1)|skin(1)	6		all_neural(199;0.225)												0.44	61.439892	61.597228	22	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55633460	55633460	10873	16	G	A	A	41	41	NLRC5	A	2	2
NLRC5	84166	broad.mit.edu	36	16	55637985	55637985	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55637985C>A	uc002ekk.1	+	c.3269C>A	c.(3268-3270)TCT>TAT	p.S1090Y	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc002ekn.1_Intron|NLRC5_uc002ekl.1_Missense_Mutation_p.S895Y|NLRC5_uc002ekm.1_Intron|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekp.1_Missense_Mutation_p.S6Y|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.S6Y	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1090					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 gene-specific transcription from RNA polymerase II promoter|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|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)|breast(1)|skin(1)	6		all_neural(199;0.225)										OREG0023820	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.26087	92.562717	100.907455	42	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55637985	55637985	10873	16	C	A	A	32	32	NLRC5	A	3	3
RSPRY1	89970	broad.mit.edu	36	16	55800541	55800541	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55800541G>T	uc002elb.1	+	c.457G>T	c.(457-459)GAT>TAT	p.D153Y	RSPRY1_uc002elc.1_Missense_Mutation_p.D153Y|RSPRY1_uc002eld.1_Missense_Mutation_p.D153Y	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	153						extracellular region	zinc ion binding			ovary(1)	1														0.166348	138.954211	194.221207	87	436	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55800541	55800541	14193	16	G	T	T	33	33	RSPRY1	T	3	3
RSPRY1	89970	broad.mit.edu	36	16	55808406	55808406	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55808406C>T	uc002elb.1	+	c.859C>T	c.(859-861)CGT>TGT	p.R287C	RSPRY1_uc002elc.1_Missense_Mutation_p.R287C|RSPRY1_uc002eld.1_Missense_Mutation_p.R287C	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	287						extracellular region	zinc ion binding			ovary(1)	1														0.229572	123.999816	141.231652	59	198	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55808406	55808406	14193	16	C	T	T	19	19	RSPRY1	T	1	1
CCL22	6367	broad.mit.edu	36	16	55951899	55951899	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55951899C>T	uc002elh.1	+	c.123C>T	c.(121-123)GTC>GTT	p.V41V		NM_002990	NP_002981	O00626	CCL22_HUMAN	small inducible cytokine A22 precursor	41					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity				0														0.359477	144.750351	147.381462	55	98	CC		KEEP	---	---	---	---	capture			Silent	SNP	55951899	55951899	3019	16	C	T	T	30	30	CCL22	T	2	2
COQ9	57017	broad.mit.edu	36	16	56044276	56044276	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56044276G>A	uc002elq.1	+	c.305G>A	c.(304-306)CGC>CAC	p.R102H	COQ9_uc002elp.1_Missense_Mutation_p.R102H|COQ9_uc002elr.1_Missense_Mutation_p.R102H	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog	102					ubiquinone biosynthetic process	mitochondrion				breast(1)	1														0.189873	78.228181	99.565249	45	192	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56044276	56044276	3889	16	G	A	A	38	38	COQ9	A	1	1
GPR56	9289	broad.mit.edu	36	16	56247299	56247299	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56247299C>T	uc002emb.1	+	c.911C>T	c.(910-912)TCC>TTC	p.S304F	GPR56_uc002elz.1_Missense_Mutation_p.S134F|GPR56_uc002ema.1_Missense_Mutation_p.S129F|GPR56_uc002emc.1_Missense_Mutation_p.S304F|GPR56_uc002eme.1_Missense_Mutation_p.S304F|GPR56_uc002emd.1_Missense_Mutation_p.S304F|GPR56_uc002emf.1_Missense_Mutation_p.S304F|GPR56_uc002emg.2_Missense_Mutation_p.S304F	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	304	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0														0.422652	431.294274	433.187013	153	209	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56247299	56247299	6975	16	C	T	T	30	30	GPR56	T	2	2
GPR97	222487	broad.mit.edu	36	16	56269682	56269682	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56269682C>T	uc002emh.1	+	c.445C>T	c.(445-447)CGC>TGC	p.R149C	GPR97_uc010cdc.1_Missense_Mutation_p.R149C|GPR97_uc010cdd.1_Non-coding_Transcript|GPR97_uc010cde.1_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	149	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.229947	104.137436	116.633039	43	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56269682	56269682	6996	16	C	T	T	23	23	GPR97	T	1	1
CCDC135	84229	broad.mit.edu	36	16	56299029	56299029	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56299029G>A	uc002emi.1	+	c.1015G>A	c.(1015-1017)GAA>AAA	p.E339K	CCDC135_uc002emj.1_Missense_Mutation_p.E339K|CCDC135_uc002emk.1_Missense_Mutation_p.E274K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	339						cytoplasm				central_nervous_system(1)	1														0.166667	21.435455	29.648249	13	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56299029	56299029	2889	16	G	A	A	37	37	CCDC135	A	1	1
CCDC135	84229	broad.mit.edu	36	16	56309886	56309886	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56309886C>A	uc002emi.1	+	c.1204C>A	c.(1204-1206)CTG>ATG	p.L402M	CCDC135_uc002emj.1_Missense_Mutation_p.L402M|CCDC135_uc002emk.1_Missense_Mutation_p.L337M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	402						cytoplasm				central_nervous_system(1)	1														0.203966	137.770811	166.51769	72	281	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56309886	56309886	2889	16	C	A	A	32	32	CCDC135	A	3	3
CCDC135	84229	broad.mit.edu	36	16	56316196	56316196	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56316196G>A	uc002emi.1	+	c.1706G>A	c.(1705-1707)CGA>CAA	p.R569Q	CCDC135_uc002emj.1_Missense_Mutation_p.R569Q|CCDC135_uc002emk.1_Missense_Mutation_p.R504Q	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	569						cytoplasm				central_nervous_system(1)	1														0.323077	55.150419	56.957791	21	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56316196	56316196	2889	16	G	A	A	37	37	CCDC135	A	1	1
KATNB1	10300	broad.mit.edu	36	16	56342249	56342249	+	Missense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56342249C>G	uc002eml.1	+	c.299C>G	c.(298-300)ACA>AGA	p.T100R		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	100	WD 2.|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)												0.395683	181.396937	182.720445	55	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56342249	56342249	8291	16	C	G	G	17	17	KATNB1	G	3	3
KIFC3	3801	broad.mit.edu	36	16	56362999	56362999	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56362999C>T	uc002emp.1	-	c.482G>A	c.(481-483)CGC>CAC	p.R161H	KIFC3_uc002emm.1_Missense_Mutation_p.R22H|KIFC3_uc002emn.1_Non-coding_Transcript|KIFC3_uc002emo.2_Missense_Mutation_p.R22H|KIFC3_uc010cdf.1_Missense_Mutation_p.R22H|KIFC3_uc002emq.1_Missense_Mutation_p.R161H|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Non-coding_Transcript	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	161	Potential.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			ovary(1)|central_nervous_system(1)	2		all_neural(199;0.224)												0.253425	81.430824	89.474989	37	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56362999	56362999	8625	16	C	T	T	27	27	KIFC3	T	1	1
CNGB1	1258	broad.mit.edu	36	16	56523215	56523215	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56523215C>T	uc002emt.1	-	c.1441G>A	c.(1441-1443)GCA>ACA	p.A481T	CNGB1_uc010cdh.1_Missense_Mutation_p.A475T	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	481	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						Colon(156;1293 1853 16336 28962 38659)								0.493671	112.831969	112.834431	39	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56523215	56523215	3738	16	C	T	T	26	26	CNGB1	T	2	2
CNGB1	1258	broad.mit.edu	36	16	56548780	56548780	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56548780C>T	uc002emt.1	-	c.840G>A	c.(838-840)GAG>GAA	p.E280E	CNGB1_uc010cdh.1_Silent_p.E274E|CNGB1_uc002emu.1_Silent_p.E280E	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	280					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						Colon(156;1293 1853 16336 28962 38659)								0.464567	175.006287	175.145643	59	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	56548780	56548780	3738	16	C	T	T	28	28	CNGB1	T	2	2
MMP15	4324	broad.mit.edu	36	16	56636614	56636614	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56636614G>A	uc002ena.1	+	c.1773G>A	c.(1771-1773)GAG>GAA	p.E591E		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	591	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3														0.9	27.881053	29.375791	9	1	GG		KEEP	---	---	---	---	capture			Silent	SNP	56636614	56636614	10044	16	G	A	A	35	35	MMP15	A	2	2
GINS3	64785	broad.mit.edu	36	16	56994561	56994561	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56994561G>T	uc010cdj.1	+	c.362G>T	c.(361-363)CGG>CTG	p.R121L	GINS3_uc002enh.2_Missense_Mutation_p.R82L|GINS3_uc002enj.2_Intron|GINS3_uc002eni.2_Missense_Mutation_p.R82L	NM_001126129	NP_001119601	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 isoform a	82					DNA replication	nucleus					0														0.355263	222.019583	226.223768	81	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56994561	56994561	6657	16	G	T	T	39	39	GINS3	T	3	3
CNOT1	23019	broad.mit.edu	36	16	57129655	57129655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:57129655G>A	uc002env.1	-	c.5152C>T	c.(5152-5154)CGA>TGA	p.R1718*	CNOT1_uc002enw.1_Non-coding_Transcript|CNOT1_uc002enu.2_Nonsense_Mutation_p.R1713*	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1718					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														0.519608	155.569734	155.603453	53	49	GG		KEEP	---	---	---	---	capture		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	Nonsense_Mutation	SNP	57129655	57129655	3755	16	G	A	A	37	37	CNOT1	A	5	1
CNOT1	23019	broad.mit.edu	36	16	57133879	57133879	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:57133879G>T	uc002env.1	-	c.4529C>A	c.(4528-4530)ACT>AAT	p.T1510N	CNOT1_uc002enw.1_Non-coding_Transcript|CNOT1_uc002enu.2_Missense_Mutation_p.T1505N	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1510					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.T1510S(1)		ovary(4)|central_nervous_system(2)	6														0.214286	262.052177	303.233232	117	429	GG		KEEP	---	---	---	---	capture		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	Missense_Mutation	SNP	57133879	57133879	3755	16	G	T	T	36	36	CNOT1	T	3	3
CNOT1	23019	broad.mit.edu	36	16	57179257	57179257	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:57179257C>T	uc002env.1	-	c.237G>A	c.(235-237)GCG>GCA	p.A79A	CNOT1_uc002enw.1_Non-coding_Transcript|CNOT1_uc002enu.2_Silent_p.A79A|CNOT1_uc002enx.1_Silent_p.A79A|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	79					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														0.406452	174.116174	175.294492	63	92	CC		KEEP	---	---	---	---	capture		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	Silent	SNP	57179257	57179257	3755	16	C	T	T	19	19	CNOT1	T	1	1
CNOT1	23019	broad.mit.edu	36	16	57180220	57180220	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:57180220C>T	uc002env.1	-	c.194G>A	c.(193-195)GGC>GAC	p.G65D	CNOT1_uc002enw.1_Non-coding_Transcript|CNOT1_uc002enu.2_Missense_Mutation_p.G65D|CNOT1_uc002enx.1_Missense_Mutation_p.G65D|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	65					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														0.153846	14.605128	22.057209	10	55	CC		KEEP	---	---	---	---	capture		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	Missense_Mutation	SNP	57180220	57180220	3755	16	C	T	T	26	26	CNOT1	T	2	2
CDH8	1006	broad.mit.edu	36	16	60245051	60245051	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:60245051C>T	uc002eog.1	-	c.2362G>A	c.(2362-2364)GAA>AAA	p.E788K		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	788	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)												0.405797	233.464314	235.06769	84	123	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	Missense_Mutation	SNP	60245051	60245051	3245	16	C	T	T	31	31	CDH8	T	1	1
CDH8	1006	broad.mit.edu	36	16	60408979	60408979	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:60408979C>T	uc002eog.1	-	c.1182G>A	c.(1180-1182)CCG>CCA	p.P394P	CDH8_uc002eoh.2_Silent_p.P163P	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	394	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)												0.47644	258.827406	258.917759	91	100	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	Silent	SNP	60408979	60408979	3245	16	C	T	T	31	31	CDH8	T	1	1
RAB40C	57799	broad.mit.edu	36	16	617392	617392	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:617392C>T	uc002chr.1	+	c.615C>T	c.(613-615)CCC>CCT	p.P205P	RAB40C_uc002chq.1_Silent_p.P186P|WFIKKN1_uc002chs.1_5'Flank	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	205	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				Melanoma(123;1631 1690 28262 44104 44957)								0.536885	404.126447	404.415286	131	113	CC		KEEP	---	---	---	---	capture			Silent	SNP	617392	617392	13401	16	C	T	T	23	23	RAB40C	T	1	1
CDH11	1009	broad.mit.edu	36	16	63539358	63539358	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:63539358G>T	uc002eoi.1	-	c.2040C>A	c.(2038-2040)ACC>ACA	p.T680T	CDH11_uc010cdn.1_Non-coding_Transcript|CDH11_uc002eoj.1_3'UTR	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	680	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)								239	TSP Lung(24;0.17)			0.454802	446.702777	447.336104	161	193	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.205)	Silent	SNP	63539358	63539358	3226	16	G	T	T	43	43	CDH11	T	3	3
CMTM3	123920	broad.mit.edu	36	16	65201346	65201346	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65201346C>T	uc002epu.1	+	c.459C>T	c.(457-459)GAC>GAT	p.D153D	CMTM3_uc002epv.1_Silent_p.D153D|CMTM3_uc002epw.1_Silent_p.D153D|CMTM3_uc002epx.1_Silent_p.D153D|CMTM3_uc002epy.1_Non-coding_Transcript	NM_001048251	NP_853532	Q96MX0	CKLF3_HUMAN	chemokine-like factor superfamily 3	153	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			central_nervous_system(1)	1		Ovarian(137;0.0563)												0.217391	129.679675	151.744704	65	234	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)	Silent	SNP	65201346	65201346	3722	16	C	T	T	19	19	CMTM3	T	1	1
DYNC1LI2	1783	broad.mit.edu	36	16	65325708	65325708	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65325708G>A	uc002eqb.1	-	c.707C>T	c.(706-708)GCG>GTG	p.A236V		NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	236					transport	cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)	3		Ovarian(137;0.0563)												0.485714	93.852471	93.864412	34	36	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	Missense_Mutation	SNP	65325708	65325708	5031	16	G	A	A	38	38	DYNC1LI2	A	1	1
CA7	766	broad.mit.edu	36	16	65438581	65438581	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65438581A>G	uc002eqi.1	+	c.188A>G	c.(187-189)AAC>AGC	p.N63S	CA7_uc002eqj.1_Missense_Mutation_p.N7S	NM_005182	NP_001014435	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	63					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)												0.233766	48.519069	53.507482	18	59	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Missense_Mutation	SNP	65438581	65438581	2638	16	A	G	G	2	2	CA7	G	4	4
CDH16	1014	broad.mit.edu	36	16	65503399	65503399	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65503399T>C	uc002eql.1	-	c.1694A>G	c.(1693-1695)GAC>GGC	p.D565G	CDH16_uc010cdy.1_Missense_Mutation_p.D565G|CDH16_uc002eqm.1_Missense_Mutation_p.D468G	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	565	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2		Ovarian(137;0.0563)												0.241935	108.979522	120.291734	45	141	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	Missense_Mutation	SNP	65503399	65503399	3230	16	T	C	C	58	58	CDH16	C	4	4
CES2	8824	broad.mit.edu	36	16	65526989	65526989	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65526989G>A	uc002eqr.1	+	c.142G>A	c.(142-144)GGT>AGT	p.G48S	CES2_uc002eqq.1_Missense_Mutation_p.G48S|CES2_uc002eqs.1_5'UTR|FAM96B_uc002eqp.1_5'Flank	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	Error:Variant_position_missing_in_O00748_after_alignment					catabolic process|regulation of synaptic transmission	endoplasmic reticulum lumen	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)				Ovarian(70;1230 1691 37888 38351)								0.228426	102.423629	115.719387	45	152	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Missense_Mutation	SNP	65526989	65526989	3403	16	G	A	A	43	43	CES2	A	2	2
CES2	8824	broad.mit.edu	36	16	65531856	65531856	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65531856C>T	uc002eqr.1	+	c.765C>T	c.(763-765)CAC>CAT	p.H255H	CES2_uc002eqq.1_Silent_p.H255H|CES2_uc002eqs.1_Silent_p.H98H	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	191					catabolic process|regulation of synaptic transmission	endoplasmic reticulum lumen	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)				Ovarian(70;1230 1691 37888 38351)								0.418919	162.331122	163.176549	62	86	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Silent	SNP	65531856	65531856	3403	16	C	T	T	19	19	CES2	T	1	1
C16orf70	80262	broad.mit.edu	36	16	65725572	65725572	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65725572C>T	uc002erc.1	+	c.451C>T	c.(451-453)CCC>TCC	p.P151S	C16orf70_uc002erd.1_Missense_Mutation_p.P151S|C16orf70_uc002ere.1_Missense_Mutation_p.P226S	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	151										ovary(1)	1		Ovarian(137;0.192)												0.369697	163.622466	166.088017	61	104	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	Missense_Mutation	SNP	65725572	65725572	1882	16	C	T	T	26	26	C16orf70	T	2	2
B3GNT9	84752	broad.mit.edu	36	16	65740963	65740963	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65740963G>A	uc002erf.1	-	c.927C>T	c.(925-927)GTC>GTT	p.V309V		NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	309	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0														0.52381	30.320938	30.331051	11	10	GG		KEEP	---	---	---	---	capture			Silent	SNP	65740963	65740963	1285	16	G	A	A	37	37	B3GNT9	A	1	1
B3GNT9	84752	broad.mit.edu	36	16	65741205	65741205	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65741205C>T	uc002erf.1	-	c.685G>A	c.(685-687)GAC>AAC	p.D229N		NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	229	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0														0.132075	8.489372	15.46024	7	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65741205	65741205	1285	16	C	T	T	31	31	B3GNT9	T	1	1
KIAA0895L	653319	broad.mit.edu	36	16	65771568	65771568	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65771568G>A	uc002ert.1	-	c.447C>T	c.(445-447)GAC>GAT	p.D149D	KIAA0895L_uc002err.1_5'Flank|KIAA0895L_uc002ers.1_5'Flank|KIAA0895L_uc002eru.1_Silent_p.D149D|EXOC3L_uc002erv.1_Non-coding_Transcript	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	149											0														0.225352	103.52157	118.260538	48	165	GG		KEEP	---	---	---	---	capture			Silent	SNP	65771568	65771568	8505	16	G	A	A	44	44	KIAA0895L	A	2	2
EXOC3L	283849	broad.mit.edu	36	16	65778873	65778873	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65778873G>A	uc002erx.1	-	c.796C>T	c.(796-798)CTG>TTG	p.L266L	EXOC3L_uc002erv.1_Non-coding_Transcript|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Silent_p.L210L	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	266	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)												0.203704	23.09151	27.495435	11	43	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)	Silent	SNP	65778873	65778873	5497	16	G	A	A	34	34	EXOC3L	A	2	2
TMEM208	29100	broad.mit.edu	36	16	65820497	65820497	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65820497C>T	uc002esi.2	+	c.502C>T	c.(502-504)CGG>TGG	p.R168W	LRRC29_uc002ese.1_5'Flank|LRRC29_uc002esf.1_5'Flank|LRRC29_uc002esg.2_5'Flank|TMEM208_uc002esh.2_3'UTR|TMEM208_uc002esj.2_Non-coding_Transcript	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	HSPC171 protein	168						integral to membrane					0		Ovarian(137;0.0563)												0.392857	56.246755	56.805923	22	34	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	Missense_Mutation	SNP	65820497	65820497	16668	16	C	T	T	27	27	TMEM208	T	1	1
PLEKHG4	25894	broad.mit.edu	36	16	65876313	65876313	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65876313C>T	uc002eso.2	+	c.1889C>T	c.(1888-1890)GCG>GTG	p.A630V	PLEKHG4_uc002esp.2_Missense_Mutation_p.A437V|PLEKHG4_uc002esq.2_Missense_Mutation_p.A630V|PLEKHG4_uc010cef.1_Missense_Mutation_p.A630V|PLEKHG4_uc002ess.2_Missense_Mutation_p.A630V|PLEKHG4_uc010ceg.1_Missense_Mutation_p.A549V	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	630					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			pancreas(1)	1														0.5	87.302395	87.302395	32	32	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	Missense_Mutation	SNP	65876313	65876313	12497	16	C	T	T	27	27	PLEKHG4	T	1	1
PLEKHG4	25894	broad.mit.edu	36	16	65878209	65878209	+	Silent	SNP	T	C	C	rs36027306	unknown	TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65878209T>C	uc002eso.2	+	c.2811T>C	c.(2809-2811)ACT>ACC	p.T937T	PLEKHG4_uc002esp.2_Silent_p.T744T|PLEKHG4_uc002esq.2_Silent_p.T937T|PLEKHG4_uc010cef.1_Silent_p.T937T|PLEKHG4_uc002ess.2_Silent_p.T937T|PLEKHG4_uc010ceg.1_Silent_p.T856T	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	937	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			pancreas(1)	1														0.19685	60.922421	71.781209	25	102	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	Silent	SNP	65878209	65878209	12497	16	T	C	C	55	55	PLEKHG4	C	4	4
LRRC36	55282	broad.mit.edu	36	16	65958457	65958457	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65958457G>A	uc002esv.1	+	c.791G>A	c.(790-792)CGA>CAA	p.R264Q	LRRC36_uc002esw.1_Intron|LRRC36_uc010ceh.1_Intron|LRRC36_uc002esx.1_Missense_Mutation_p.R143Q|LRRC36_uc002esy.1_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	264											0		Ovarian(137;0.192)												0.430712	324.577887	325.696138	115	152	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	Missense_Mutation	SNP	65958457	65958457	9365	16	G	A	A	37	37	LRRC36	A	1	1
TPPP3	51673	broad.mit.edu	36	16	65981961	65981961	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65981961C>A	uc002esz.1	-	c.264G>T	c.(262-264)AAG>AAT	p.K88N	TPPP3_uc002eta.1_Missense_Mutation_p.K88N|TPPP3_uc002etb.1_Missense_Mutation_p.K88N	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	88				K -> G (in Ref. 2; AAD44478).|K -> Q (in Ref. 1; AAD27747).	microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)												0.196117	192.340115	236.706663	101	414	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	Missense_Mutation	SNP	65981961	65981961	16959	16	C	A	A	24	24	TPPP3	A	3	3
ATP6V0D1	9114	broad.mit.edu	36	16	66034530	66034530	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66034530G>A	uc002ete.1	-	c.534C>T	c.(532-534)ATC>ATT	p.I178I		NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	178					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)												0.457944	416.26756	416.76364	147	174	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	Silent	SNP	66034530	66034530	1192	16	G	A	A	37	37	ATP6V0D1	A	1	1
ATP6V0D1	9114	broad.mit.edu	36	16	66045039	66045039	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66045039C>T	uc002ete.1	-	c.211G>A	c.(211-213)GAT>AAT	p.D71N		NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	71					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)												0.388235	174.979721	176.849099	66	104	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	Missense_Mutation	SNP	66045039	66045039	1192	16	C	T	T	31	31	ATP6V0D1	T	1	1
FAM65A	79567	broad.mit.edu	36	16	66131746	66131746	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66131746G>A	uc010cej.1	+	c.619G>A	c.(619-621)GAG>AAG	p.E207K	FAM65A_uc010cei.1_Missense_Mutation_p.E46K|FAM65A_uc002eth.1_Missense_Mutation_p.E204K|FAM65A_uc002eti.1_Missense_Mutation_p.E167K|FAM65A_uc002etj.1_Missense_Mutation_p.E203K|FAM65A_uc002etk.1_Missense_Mutation_p.E203K	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	208						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)												0.370787	175.996916	178.610425	66	112	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	Missense_Mutation	SNP	66131746	66131746	5822	16	G	A	A	37	37	FAM65A	A	1	1
FAM65A	79567	broad.mit.edu	36	16	66132001	66132001	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66132001C>T	uc010cej.1	+	c.703C>T	c.(703-705)CGT>TGT	p.R235C	FAM65A_uc010cei.1_Missense_Mutation_p.R74C|FAM65A_uc002eth.1_Missense_Mutation_p.R232C|FAM65A_uc002eti.1_Missense_Mutation_p.R195C|FAM65A_uc002etj.1_Missense_Mutation_p.R231C|FAM65A_uc002etk.1_Missense_Mutation_p.R231C	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	236						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)												0.18894	69.436938	89.10377	41	176	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	Missense_Mutation	SNP	66132001	66132001	5822	16	C	T	T	27	27	FAM65A	T	1	1
RLTPR	146206	broad.mit.edu	36	16	66239286	66239286	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66239286C>T	uc002etn.1	+	c.995C>T	c.(994-996)GCC>GTC	p.A332V	RLTPR_uc010cel.1_Missense_Mutation_p.A332V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	332										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)												0.209302	18.251014	21.615636	9	34	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	Missense_Mutation	SNP	66239286	66239286	13871	16	C	T	T	26	26	RLTPR	T	2	2
GFOD2	81577	broad.mit.edu	36	16	66267418	66267418	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66267418G>A	uc002eub.1	-	c.299C>T	c.(298-300)TCG>TTG	p.S100L	GFOD2_uc002eua.1_Non-coding_Transcript|GFOD2_uc002euc.1_5'UTR	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	100					oxidation-reduction process	proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)	2		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)												0.388889	75.681456	76.460695	28	44	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	Missense_Mutation	SNP	66267418	66267418	6612	16	G	A	A	37	37	GFOD2	A	1	1
TSNAXIP1	55815	broad.mit.edu	36	16	66412318	66412318	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66412318C>T	uc002euj.1	+	c.61C>T	c.(61-63)CGA>TGA	p.R21*	TSNAXIP1_uc010cep.1_5'UTR|TSNAXIP1_uc002euf.2_Intron|TSNAXIP1_uc002eug.2_Intron|TSNAXIP1_uc002euh.2_Intron|TSNAXIP1_uc002eui.2_Intron|TSNAXIP1_uc002euk.1_5'Flank	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	21					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)												0.21982	257.189958	297.299521	122	433	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	Nonsense_Mutation	SNP	66412318	66412318	17183	16	C	T	T	31	31	TSNAXIP1	T	5	1
CENPT	80152	broad.mit.edu	36	16	66423876	66423876	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66423876G>A	uc002eun.2	-	c.184C>T	c.(184-186)CGT>TGT	p.R62C	CENPT_uc002eum.2_Missense_Mutation_p.R62C|CENPT_uc010ceq.1_5'UTR	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	62					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)												0.128	18.241572	35.080523	16	109	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	Missense_Mutation	SNP	66423876	66423876	3375	16	G	A	A	38	38	CENPT	A	1	1
THAP11	57215	broad.mit.edu	36	16	66434780	66434780	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66434780G>T	uc002euo.1	+	c.822G>T	c.(820-822)AAG>AAT	p.K274N	CENPT_uc002eun.2_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	274	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)												0.20059	122.180676	150.471753	68	271	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	Missense_Mutation	SNP	66434780	66434780	16371	16	G	T	T	33	33	THAP11	T	3	3
EDC4	23644	broad.mit.edu	36	16	66471011	66471011	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66471011G>A	uc002eur.1	+	c.1654G>A	c.(1654-1656)GAA>AAA	p.E552K	EDC4_uc010cer.1_Missense_Mutation_p.E171K|EDC4_uc010ces.1_Missense_Mutation_p.E340K|EDC4_uc002eus.1_Missense_Mutation_p.E282K|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	552					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)												0.439252	123.64617	123.981246	47	60	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Missense_Mutation	SNP	66471011	66471011	5095	16	G	A	A	37	37	EDC4	A	1	1
NRN1L	123904	broad.mit.edu	36	16	66477247	66477247	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66477247G>T	uc002euu.1	+	c.201G>T	c.(199-201)GAG>GAT	p.E67D	EDC4_uc002eut.1_3'UTR	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN	neuritin 1-like	67						anchored to membrane|plasma membrane				central_nervous_system(1)	1		Ovarian(137;0.192)												0.364641	160.951869	163.887525	66	115	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Missense_Mutation	SNP	66477247	66477247	11064	16	G	T	T	33	33	NRN1L	T	3	3
PSKH1	5681	broad.mit.edu	36	16	66500894	66500894	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66500894G>T	uc002euv.1	+	c.741G>T	c.(739-741)AAG>AAT	p.K247N	PSKH1_uc010cet.1_Missense_Mutation_p.K247N	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	247	Protein kinase.				protein phosphorylation	endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)								27				0.40566	110.695399	111.521789	43	63	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	Missense_Mutation	SNP	66500894	66500894	13117	16	G	T	T	33	33	PSKH1	T	3	3
SLC12A4	6560	broad.mit.edu	36	16	66536552	66536552	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66536552G>A	uc002euz.1	-	c.3105C>T	c.(3103-3105)GAC>GAT	p.D1035D	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.1_5'Flank|SLC12A4_uc002eva.1_Silent_p.D1035D	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride	1035	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.51417	360.244608	360.289325	127	120	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Silent	SNP	66536552	66536552	14880	16	G	A	A	40	40	SLC12A4	A	1	1
SLC12A4	6560	broad.mit.edu	36	16	66537465	66537465	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66537465G>A	uc002euz.1	-	c.2629C>T	c.(2629-2631)CGC>TGC	p.R877C	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.1_5'Flank|SLC12A4_uc002eva.1_Missense_Mutation_p.R877C|SLC12A4_uc010cev.1_Non-coding_Transcript	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride	877	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.470199	197.407707	197.524335	71	80	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Missense_Mutation	SNP	66537465	66537465	14880	16	G	A	A	38	38	SLC12A4	A	1	1
SLC12A4	6560	broad.mit.edu	36	16	66542455	66542455	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66542455G>A	uc002euz.1	-	c.1307C>T	c.(1306-1308)GCT>GTT	p.A436V	SLC12A4_uc002eva.1_Missense_Mutation_p.A436V|SLC12A4_uc002evb.1_Intron	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride	436					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.247253	108.283611	118.867498	45	137	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Missense_Mutation	SNP	66542455	66542455	14880	16	G	A	A	34	34	SLC12A4	A	2	2
DDX28	55794	broad.mit.edu	36	16	66613920	66613920	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66613920G>T	uc002evh.1	-	c.687C>A	c.(685-687)TCC>TCA	p.S229S	DUS2L_uc002evi.1_5'Flank|DUS2L_uc002evj.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	229	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)												0.147727	18.020492	28.507416	13	75	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	Silent	SNP	66613920	66613920	4526	16	G	T	T	35	35	DDX28	T	3	3
DDX28	55794	broad.mit.edu	36	16	66614309	66614309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66614309G>A	uc002evh.1	-	c.298C>T	c.(298-300)CGA>TGA	p.R100*	DUS2L_uc002evi.1_5'Flank|DUS2L_uc002evj.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	100						mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)												0.307692	9.795231	10.223797	4	9	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	Nonsense_Mutation	SNP	66614309	66614309	4526	16	G	A	A	37	37	DDX28	A	5	1
DUS2L	54920	broad.mit.edu	36	16	66665496	66665496	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66665496G>A	uc002evi.1	+	c.869G>A	c.(868-870)CGA>CAA	p.R290Q	DUS2L_uc002evj.1_Missense_Mutation_p.R290Q|DUS2L_uc010cez.1_Missense_Mutation_p.R203Q	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	290					oxidation-reduction process|tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)												0.384	128.376123	129.848084	48	77	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	Missense_Mutation	SNP	66665496	66665496	4991	16	G	A	A	37	37	DUS2L	A	1	1
DUS2L	54920	broad.mit.edu	36	16	66670259	66670259	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66670259C>T	uc002evi.1	+	c.1351C>T	c.(1351-1353)CGA>TGA	p.R451*	DUS2L_uc002evj.1_Nonsense_Mutation_p.R451*|DUS2L_uc010cez.1_Nonsense_Mutation_p.R364*	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	451					oxidation-reduction process|tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)												0.452703	179.22794	179.511772	67	81	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	Nonsense_Mutation	SNP	66670259	66670259	4991	16	C	T	T	27	27	DUS2L	T	5	1
NFATC3	4775	broad.mit.edu	36	16	66718014	66718014	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66718014G>T	uc002evo.1	+	c.1401G>T	c.(1399-1401)AAG>AAT	p.K467N	NFATC3_uc002evk.1_Missense_Mutation_p.K467N|NFATC3_uc002evl.1_Intron|NFATC3_uc002evn.1_Missense_Mutation_p.K467N|NFATC3_uc002evm.1_Missense_Mutation_p.K467N	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	467	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(137;0.0563)												0.20339	48.131237	57.774085	24	94	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	Missense_Mutation	SNP	66718014	66718014	10764	16	G	T	T	35	35	NFATC3	T	3	3
ESRP2	80004	broad.mit.edu	36	16	66823850	66823850	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66823850G>A	uc010cfa.1	-	c.909C>T	c.(907-909)ATC>ATT	p.I303I	ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Silent_p.I293I	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	303	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1														0.201258	64.305258	77.506462	32	127	GG		KEEP	---	---	---	---	capture			Silent	SNP	66823850	66823850	5452	16	G	A	A	41	41	ESRP2	A	2	2
ESRP2	80004	broad.mit.edu	36	16	66824100	66824100	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66824100G>A	uc010cfa.1	-	c.732C>T	c.(730-732)TGC>TGT	p.C244C	ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Intron	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	244					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1														0.503247	438.284628	438.287272	155	153	GG		KEEP	---	---	---	---	capture			Silent	SNP	66824100	66824100	5452	16	G	A	A	42	42	ESRP2	A	2	2
SLC7A6	9057	broad.mit.edu	36	16	66881800	66881800	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66881800G>A	uc002evt.1	+	c.650G>A	c.(649-651)GGA>GAA	p.G217E	SLC7A6_uc010cfb.1_Intron|SLC7A6_uc002evu.1_Missense_Mutation_p.G217E|SLC7A6_uc002evv.1_Intron|SLC7A6_uc010cfc.1_Intron	NM_001076785	NP_003974	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	217	Extracellular (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)												0.170455	53.835552	71.921973	30	146	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	Missense_Mutation	SNP	66881800	66881800	15198	16	G	A	A	41	41	SLC7A6	A	2	2
PRMT7	54496	broad.mit.edu	36	16	66920553	66920553	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66920553T>A	uc002evy.1	+	c.366T>A	c.(364-366)CAT>CAA	p.H122Q	PRMT7_uc002evx.1_Missense_Mutation_p.H122Q|PRMT7_uc002evz.1_Intron	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	122					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of protein binding|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone binding|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)										OREG0023899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.168142	34.462038	46.245972	19	94	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	Missense_Mutation	SNP	66920553	66920553	12984	16	T	A	A	52	52	PRMT7	A	4	4
PRMT7	54496	broad.mit.edu	36	16	66943675	66943675	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66943675G>A	uc002evy.1	+	c.1437G>A	c.(1435-1437)CCG>CCA	p.P479P	PRMT7_uc002evx.1_Silent_p.P405P|PRMT7_uc002evz.1_Silent_p.P251P|PRMT7_uc010cfd.1_5'UTR	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	479					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of protein binding|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone binding|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)												0.220859	71.109724	82.811341	36	127	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	Silent	SNP	66943675	66943675	12984	16	G	A	A	40	40	PRMT7	A	1	1
PRMT7	54496	broad.mit.edu	36	16	66944940	66944940	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66944940C>T	uc002evy.1	+	c.1620C>T	c.(1618-1620)TTC>TTT	p.F540F	PRMT7_uc002evz.1_Silent_p.F312F|PRMT7_uc010cfd.1_Silent_p.F32F	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	540					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of protein binding|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone binding|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)												0.219512	76.423421	88.302125	36	128	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	Silent	SNP	66944940	66944940	12984	16	C	T	T	31	31	PRMT7	T	1	1
SMPD3	55512	broad.mit.edu	36	16	66962536	66962536	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66962536G>A	uc002ewa.1	-	c.1050C>T	c.(1048-1050)TCC>TCT	p.S350S	SMPD3_uc010cfe.1_Silent_p.S350S	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral	350	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		Ovarian(137;0.0563)			Phosphatidylserine(DB00144)									0.392593	154.682527	156.033213	53	82	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Silent	SNP	66962536	66962536	15306	16	G	A	A	39	39	SMPD3	A	1	1
ZFP90	146198	broad.mit.edu	36	16	67155839	67155839	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67155839G>T	uc010cff.1	+	c.1648G>T	c.(1648-1650)GAG>TAG	p.E550*	ZFP90_uc002ewb.1_3'UTR|ZFP90_uc002ewc.1_3'UTR|ZFP90_uc002ewd.1_Nonsense_Mutation_p.E550*|ZFP90_uc002ewe.1_Nonsense_Mutation_p.E550*	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	550				E -> V (in Ref. 1; BAB71228).	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)												0.20073	103.647542	126.487307	55	219	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	Nonsense_Mutation	SNP	67155839	67155839	18243	16	G	T	T	33	33	ZFP90	T	5	3
CDH3	1001	broad.mit.edu	36	16	67283212	67283212	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67283212G>A	uc002ewf.2	+	c.1884G>A	c.(1882-1884)GAG>GAA	p.E628E		NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	628	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)	3		Ovarian(137;0.0564)								243				0.474138	324.918059	325.053883	110	122	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	Silent	SNP	67283212	67283212	3240	16	G	A	A	34	34	CDH3	A	2	2
CDH3	1001	broad.mit.edu	36	16	67287235	67287235	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67287235C>T	uc002ewf.2	+	c.2188C>T	c.(2188-2190)CTC>TTC	p.L730F		NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	730	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)	3		Ovarian(137;0.0564)								243				0.208122	86.459027	102.019467	41	156	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	Missense_Mutation	SNP	67287235	67287235	3240	16	C	T	T	32	32	CDH3	T	2	2
CDH1	999	broad.mit.edu	36	16	67400154	67400154	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67400154G>A	uc002ewg.1	+	c.589G>A	c.(589-591)GCT>ACT	p.A197T	CDH1_uc010cfg.1_Missense_Mutation_p.A197T	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	197	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|focal adhesion|integral to membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding|transcription activator activity			breast(136)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	231		all_neural(199;0.0189)|Ovarian(137;0.0563)								231				0.39	113.300712	114.361117	39	61	GG		KEEP	---	---	---	---	capture		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	Missense_Mutation	SNP	67400154	67400154	3224	16	G	A	A	34	34	CDH1	A	2	2
CDH1	999	broad.mit.edu	36	16	67413486	67413486	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67413486G>A	uc002ewg.1	+	c.1793G>A	c.(1792-1794)CGA>CAA	p.R598Q	CDH1_uc010cfg.1_Missense_Mutation_p.R537Q	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	598	Cadherin 5.|Extracellular (Potential).		R -> Q (in a gastric cancer sample).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|focal adhesion|integral to membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding|transcription activator activity	p.R598Q(1)		breast(136)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	231		all_neural(199;0.0189)|Ovarian(137;0.0563)								231				0.216606	126.542505	147.071818	60	217	GG		KEEP	---	---	---	---	capture		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	Missense_Mutation	SNP	67413486	67413486	3224	16	G	A	A	37	37	CDH1	A	1	1
CDH1	999	broad.mit.edu	36	16	67419630	67419630	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67419630G>A	uc002ewg.1	+	c.2217G>A	c.(2215-2217)GAG>GAA	p.E739E	CDH1_uc010cfg.1_Silent_p.E678E	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	739	Cytoplasmic (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|focal adhesion|integral to membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding|transcription activator activity			breast(136)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	231		all_neural(199;0.0189)|Ovarian(137;0.0563)								231				0.185668	107.284066	135.733203	57	250	GG		KEEP	---	---	---	---	capture		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	Silent	SNP	67419630	67419630	3224	16	G	A	A	34	34	CDH1	A	2	2
TMCO7	79613	broad.mit.edu	36	16	67675017	67675017	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67675017C>T	uc002ewi.2	+	c.3237C>T	c.(3235-3237)TTC>TTT	p.F1079F		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	1079						integral to membrane	binding				0		Ovarian(137;0.0568)												0.333333	10.195561	10.490988	4	8	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	Silent	SNP	67675017	67675017	16531	16	C	T	T	30	30	TMCO7	T	2	2
HAS3	3038	broad.mit.edu	36	16	67701223	67701223	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67701223G>A	uc010cfh.1	+	c.424G>A	c.(424-426)GGC>AGC	p.G142S	HAS3_uc002ewk.1_Missense_Mutation_p.G142S|HAS3_uc002ewl.1_Missense_Mutation_p.G142S	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	142	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)												0.483051	166.375328	166.40423	57	61	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	Missense_Mutation	SNP	67701223	67701223	7245	16	G	A	A	39	39	HAS3	A	1	1
WDR24	84219	broad.mit.edu	36	16	677684	677684	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:677684C>T	uc002ciz.1	-	c.538G>A	c.(538-540)GCC>ACC	p.A180T		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	253										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)												0.384615	65.695831	66.440873	25	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	677684	677684	17854	16	C	T	T	27	27	WDR24	T	1	1
SNTB2	6645	broad.mit.edu	36	16	67892273	67892273	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67892273T>G	uc002ewu.1	+	c.1568T>G	c.(1567-1569)TTT>TGT	p.F523C	SNTB2_uc010cfk.1_5'Flank	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	523	Calmodulin-binding (By similarity).|SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)				NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)								0.475	193.171898	193.236861	57	63	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.208)	Missense_Mutation	SNP	67892273	67892273	15373	16	T	G	G	64	64	SNTB2	G	4	4
COG8	84342	broad.mit.edu	36	16	67925960	67925960	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67925960C>A	uc002ewy.2	-	c.1378G>T	c.(1378-1380)GAT>TAT	p.D460Y	COG8_uc002ewz.2_Missense_Mutation_p.D460Y	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	460					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1														0.410256	120.963589	121.789655	48	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67925960	67925960	3802	16	C	A	A	30	30	COG8	A	3	3
COG8	84342	broad.mit.edu	36	16	67928097	67928097	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67928097C>T	uc002ewy.2	-	c.397G>A	c.(397-399)GAG>AAG	p.E133K	COG8_uc002ewz.2_Missense_Mutation_p.E133K|NIP7_uc002exa.1_5'Flank|NIP7_uc002exb.1_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	133					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1														0.359712	130.710942	133.119329	50	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67928097	67928097	3802	16	C	T	T	31	31	COG8	T	1	1
TMED6	146456	broad.mit.edu	36	16	67939295	67939295	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67939295G>T	uc002exc.1	-	c.386C>A	c.(385-387)TCT>TAT	p.S129Y		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain	129	Lumenal (Potential).|GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1														0.426637	501.146182	503.236615	189	254	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67939295	67939295	16538	16	G	T	T	33	33	TMED6	T	3	3
TERF2	7014	broad.mit.edu	36	16	67958275	67958275	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67958275C>T	uc002exd.1	-	c.1150G>A	c.(1150-1152)GCT>ACT	p.A384T		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	384					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere maintenance via telomerase|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				Ovarian(13;63 524 30420 31710 34037)								0.343284	56.6009	58.05618	23	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67958275	67958275	16289	16	C	T	T	27	27	TERF2	T	1	1
TERF2	7014	broad.mit.edu	36	16	67959790	67959790	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:67959790C>A	uc002exd.1	-	c.811G>T	c.(811-813)GAA>TAA	p.E271*		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	271					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere maintenance via telomerase|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				Ovarian(13;63 524 30420 31710 34037)								0.233333	57.527988	65.349238	28	92	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	67959790	67959790	16289	16	C	A	A	32	32	TERF2	A	5	3
NFAT5	10725	broad.mit.edu	36	16	68282473	68282473	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:68282473G>A	uc002exl.1	+	c.1904G>A	c.(1903-1905)AGA>AAA	p.R635K	NFAT5_uc002exi.2_Missense_Mutation_p.R541K|NFAT5_uc002exj.1_Missense_Mutation_p.R541K|NFAT5_uc002exk.1_Missense_Mutation_p.R541K|NFAT5_uc002exn.1_Missense_Mutation_p.R634K|NFAT5_uc002exm.1_Missense_Mutation_p.R617K|NFAT5_uc002exo.1_5'Flank	NM_138713	NP_619727	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform b	617					excretion|regulation of transcription, DNA-dependent|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.327044	139.252526	143.467528	52	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68282473	68282473	10760	16	G	A	A	33	33	NFAT5	A	2	2
NFAT5	10725	broad.mit.edu	36	16	68283509	68283509	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:68283509G>A	uc002exl.1	+	c.2280G>A	c.(2278-2280)CAG>CAA	p.Q760Q	NFAT5_uc002exi.2_Silent_p.Q666Q|NFAT5_uc002exj.1_Silent_p.Q666Q|NFAT5_uc002exk.1_Silent_p.Q666Q|NFAT5_uc002exn.1_Silent_p.Q759Q|NFAT5_uc002exm.1_Silent_p.Q742Q|NFAT5_uc002exo.1_5'Flank	NM_138713	NP_619727	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform b	742	Poly-Gln.				excretion|regulation of transcription, DNA-dependent|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.218935	82.069664	94.387509	37	132	GG		KEEP	---	---	---	---	capture			Silent	SNP	68283509	68283509	10760	16	G	A	A	34	34	NFAT5	A	2	2
NFAT5	10725	broad.mit.edu	36	16	68286556	68286556	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:68286556A>C	uc002exl.1	+	c.4431A>C	c.(4429-4431)TTA>TTC	p.L1477F	NFAT5_uc002exi.2_Missense_Mutation_p.L1383F|NFAT5_uc002exj.1_Missense_Mutation_p.L1383F|NFAT5_uc002exk.1_Missense_Mutation_p.L1383F|NFAT5_uc002exn.1_Missense_Mutation_p.L1476F|NFAT5_uc002exm.1_Missense_Mutation_p.L1459F|NFAT5_uc002exo.1_Intron	NM_138713	NP_619727	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform b	1459					excretion|regulation of transcription, DNA-dependent|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.20354	58.17555	67.383964	23	90	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68286556	68286556	10760	16	A	C	C	13	13	NFAT5	C	4	4
NFAT5	10725	broad.mit.edu	36	16	68286675	68286675	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:68286675C>A	uc002exl.1	+	c.4550C>A	c.(4549-4551)TCT>TAT	p.S1517Y	NFAT5_uc002exi.2_Missense_Mutation_p.S1423Y|NFAT5_uc002exj.1_Missense_Mutation_p.S1423Y|NFAT5_uc002exk.1_Missense_Mutation_p.S1423Y|NFAT5_uc002exn.1_Missense_Mutation_p.S1516Y|NFAT5_uc002exm.1_Missense_Mutation_p.S1499Y|NFAT5_uc002exo.1_Intron	NM_138713	NP_619727	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform b	1499					excretion|regulation of transcription, DNA-dependent|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.252174	120.197506	133.066504	58	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68286675	68286675	10760	16	C	A	A	32	32	NFAT5	A	3	3
WWP2	11060	broad.mit.edu	36	16	68463222	68463222	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:68463222C>T	uc002exu.1	+	c.590C>T	c.(589-591)TCG>TTG	p.S197L	WWP2_uc002ext.1_Missense_Mutation_p.S197L|WWP2_uc002exv.1_Missense_Mutation_p.S197L	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	197					entry of virus into host cell|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			skin(1)	1														0.157895	45.229648	66.448024	30	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68463222	68463222	17990	16	C	T	T	31	31	WWP2	T	1	1
PDPR	55066	broad.mit.edu	36	16	68744904	68744904	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:68744904T>C	uc002eyf.1	+	c.2159T>C	c.(2158-2160)TTC>TCC	p.F720S	CLEC18C_uc002exy.1_Intron|PDPR_uc002eyg.1_Intron|PDPR_uc002eyh.1_Missense_Mutation_p.F66S	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	721					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1														0.1125	12.820525	24.678478	9	71	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.124)	Missense_Mutation	SNP	68744904	68744904	12110	16	T	C	C	62	62	PDPR	C	4	4
AARS	16	broad.mit.edu	36	16	68863275	68863275	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:68863275C>T	uc002eyn.1	-	c.581G>A	c.(580-582)CGG>CAG	p.R194Q		NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	194					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)			L-Alanine(DB00160)									0.184332	83.483472	103.758787	40	177	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.161)	Missense_Mutation	SNP	68863275	68863275	20	16	C	T	T	23	23	AARS	T	1	1
FUK	197258	broad.mit.edu	36	16	69064474	69064474	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69064474G>T	uc010cft.1	+	c.1590G>T	c.(1588-1590)AGG>AGT	p.R530S	FUK_uc002eyy.1_Missense_Mutation_p.R498S|FUK_uc002eyz.1_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	498						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)												0.181818	10.427476	13.569365	6	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69064474	69064474	6347	16	G	T	T	43	43	FUK	T	3	3
COG4	25839	broad.mit.edu	36	16	69103662	69103662	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69103662G>A	uc002ezc.1	-	c.719C>T	c.(718-720)TCG>TTG	p.S240L	COG4_uc002ezb.1_5'Flank|COG4_uc010cfu.1_Non-coding_Transcript|COG4_uc002ezd.1_Missense_Mutation_p.S240L|COG4_uc002eze.1_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	236					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)												0.223602	76.856446	88.1378	36	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69103662	69103662	3798	16	G	A	A	37	37	COG4	A	1	1
COG4	25839	broad.mit.edu	36	16	69109050	69109050	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69109050G>A	uc002ezc.1	-	c.349C>T	c.(349-351)CGT>TGT	p.R117C	COG4_uc010cfu.1_Non-coding_Transcript|COG4_uc002ezd.1_Missense_Mutation_p.R117C|COG4_uc002eze.1_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	113	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)												0.214286	70.515329	82.107804	33	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69109050	69109050	3798	16	G	A	A	37	37	COG4	A	1	1
HYDIN	54768	broad.mit.edu	36	16	69399142	69399142	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69399142G>A	uc002ezr.1	-	c.15205C>T	c.(15205-15207)CGG>TGG	p.R5069W	HYDIN_uc010cfy.1_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5070										ovary(1)	1		Ovarian(137;0.0654)												0.257384	133.908277	146.529569	61	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69399142	69399142	7767	16	G	A	A	38	38	HYDIN	A	1	1
HYDIN	54768	broad.mit.edu	36	16	69454583	69454583	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69454583G>A	uc002ezr.1	-	c.11472C>T	c.(11470-11472)TTC>TTT	p.F3824F	HYDIN_uc010cfy.1_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3825										ovary(1)	1		Ovarian(137;0.0654)												0.145985	29.702069	46.218297	20	117	GG		KEEP	---	---	---	---	capture			Silent	SNP	69454583	69454583	7767	16	G	A	A	37	37	HYDIN	A	1	1
HYDIN	54768	broad.mit.edu	36	16	69465797	69465797	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69465797T>C	uc002ezr.1	-	c.10857A>G	c.(10855-10857)GGA>GGG	p.G3619G		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3620										ovary(1)	1		Ovarian(137;0.0654)												0.189394	114.513521	138.328344	50	214	TT		KEEP	---	---	---	---	capture			Silent	SNP	69465797	69465797	7767	16	T	C	C	58	58	HYDIN	C	4	4
HYDIN	54768	broad.mit.edu	36	16	69475400	69475400	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69475400G>A	uc002ezr.1	-	c.9900C>T	c.(9898-9900)ATC>ATT	p.I3300I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3301										ovary(1)	1		Ovarian(137;0.0654)												0.215789	83.761783	97.938141	41	149	GG		KEEP	---	---	---	---	capture			Silent	SNP	69475400	69475400	7767	16	G	A	A	37	37	HYDIN	A	1	1
HYDIN	54768	broad.mit.edu	36	16	69483209	69483209	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69483209G>A	uc002ezr.1	-	c.9494C>T	c.(9493-9495)TCC>TTC	p.S3165F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3166										ovary(1)	1		Ovarian(137;0.0654)												0.219653	83.768372	96.28577	38	135	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69483209	69483209	7767	16	G	A	A	41	41	HYDIN	A	2	2
HYDIN	54768	broad.mit.edu	36	16	69509747	69509747	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69509747C>T	uc002ezr.1	-	c.7869G>A	c.(7867-7869)CGG>CGA	p.R2623R	HYDIN_uc002ezs.1_Intron	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2624										ovary(1)	1		Ovarian(137;0.0654)												0.094862	8.439984	50.118352	24	229	CC		KEEP	---	---	---	---	capture			Silent	SNP	69509747	69509747	7767	16	C	T	T	26	26	HYDIN	T	2	2
HYDIN	54768	broad.mit.edu	36	16	69512480	69512480	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69512480G>A	uc002ezr.1	-	c.7297C>T	c.(7297-7299)CTT>TTT	p.L2433F	HYDIN_uc002ezs.1_Missense_Mutation_p.L38F|HYDIN_uc002ezt.1_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2434										ovary(1)	1		Ovarian(137;0.0654)												0.212815	424.644236	491.279076	186	688	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69512480	69512480	7767	16	G	A	A	33	33	HYDIN	A	2	2
HYDIN	54768	broad.mit.edu	36	16	69546893	69546893	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69546893C>T	uc002ezr.1	-	c.6199G>A	c.(6199-6201)GAC>AAC	p.D2067N	HYDIN_uc002ezt.1_Non-coding_Transcript|HYDIN_uc002ezu.1_Missense_Mutation_p.D370N	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2068										ovary(1)	1		Ovarian(137;0.0654)												0.236641	271.51575	304.758268	124	400	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69546893	69546893	7767	16	C	T	T	31	31	HYDIN	T	1	1
HYDIN	54768	broad.mit.edu	36	16	69609618	69609618	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69609618G>A	uc002ezr.1	-	c.3559C>T	c.(3559-3561)CGC>TGC	p.R1187C		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1187										ovary(1)	1		Ovarian(137;0.0654)												0.09816	14.961033	67.648593	32	294	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69609618	69609618	7767	16	G	A	A	37	37	HYDIN	A	1	1
HYDIN	54768	broad.mit.edu	36	16	69609712	69609712	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69609712G>A	uc002ezr.1	-	c.3465C>T	c.(3463-3465)AGC>AGT	p.S1155S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1155										ovary(1)	1		Ovarian(137;0.0654)												0.091075	12.766885	105.286913	50	499	GG		KEEP	---	---	---	---	capture			Silent	SNP	69609712	69609712	7767	16	G	A	A	42	42	HYDIN	A	2	2
HYDIN	54768	broad.mit.edu	36	16	69658761	69658761	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69658761C>T	uc002ezr.1	-	c.2008G>A	c.(2008-2010)GAG>AAG	p.E670K	HYDIN_uc010cfz.1_Missense_Mutation_p.E415K|HYDIN_uc002ezv.1_Missense_Mutation_p.E670K|HYDIN_uc002ezw.2_Missense_Mutation_p.E687K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	670										ovary(1)	1		Ovarian(137;0.0654)												0.093023	7.797966	57.937835	28	273	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69658761	69658761	7767	16	C	T	T	31	31	HYDIN	T	1	1
CALB2	794	broad.mit.edu	36	16	69981198	69981198	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69981198T>C	uc002faa.2	+	c.745T>C	c.(745-747)TCC>CCC	p.S249P	CALB2_uc002fab.2_3'UTR|CALB2_uc002fac.2_3'UTR	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	249	EF-hand 6.						calcium ion binding				0		Ovarian(137;0.125)												0.486425	729.223657	729.293583	215	227	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69981198	69981198	2690	16	T	C	C	58	58	CALB2	C	4	4
ZNF19	7567	broad.mit.edu	36	16	70066600	70066600	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70066600C>A	uc010cgc.1	-	c.1351G>T	c.(1351-1353)GAA>TAA	p.E451*	ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Nonsense_Mutation_p.E439*|ZNF19_uc002fal.1_Nonsense_Mutation_p.E439*|ZNF19_uc002fam.1_Nonsense_Mutation_p.E451*	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	451					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)												0.203125	23.13261	28.378062	13	51	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	Nonsense_Mutation	SNP	70066600	70066600	18346	16	C	A	A	32	32	ZNF19	A	5	3
ZNF19	7567	broad.mit.edu	36	16	70066737	70066737	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70066737C>A	uc010cgc.1	-	c.1214G>T	c.(1213-1215)AGA>ATA	p.R405I	ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.R393I|ZNF19_uc002fal.1_Missense_Mutation_p.R393I|ZNF19_uc002fam.1_Missense_Mutation_p.R405I	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	405	C2H2-type 9.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)												0.186441	57.16685	73.482612	33	144	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	Missense_Mutation	SNP	70066737	70066737	18346	16	C	A	A	32	32	ZNF19	A	3	3
AP1G1	164	broad.mit.edu	36	16	70337001	70337001	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70337001C>A	uc002fbb.1	-	c.1817G>T	c.(1816-1818)AGA>ATA	p.R606I	AP1G1_uc002fba.1_Missense_Mutation_p.R586I|AP1G1_uc010cgg.1_Missense_Mutation_p.R583I|AP1G1_uc002faz.1_5'UTR	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	583					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)												0.185185	123.907194	159.060362	70	308	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70337001	70337001	742	16	C	A	A	32	32	AP1G1	A	3	3
KIAA0174	9798	broad.mit.edu	36	16	70507105	70507105	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70507105C>T	uc002fbk.1	+	c.61C>T	c.(61-63)CGC>TGC	p.R21C	KIAA0174_uc002fbj.1_Missense_Mutation_p.R34C|KIAA0174_uc010cgh.1_Missense_Mutation_p.R34C|KIAA0174_uc002fbl.1_Missense_Mutation_p.R21C|KIAA0174_uc002fbm.1_Missense_Mutation_p.R21C|KIAA0174_uc002fbn.1_Intron|KIAA0174_uc010cgi.1_5'UTR|KIAA0174_uc010cgj.1_5'Flank	NM_014761	NP_055576	P53990	IST1_HUMAN	putative MAPK activating protein PM28	21	Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding			ovary(1)	1														0.382022	185.056236	187.228964	68	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70507105	70507105	8465	16	C	T	T	31	31	KIAA0174	T	1	1
DHODH	1723	broad.mit.edu	36	16	70603607	70603607	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70603607G>A	uc002fbp.1	+	c.179G>A	c.(178-180)CGC>CAC	p.R60H	DHODH_uc010cgk.1_Non-coding_Transcript	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	60	Mitochondrial intermembrane (By similarity).				'de novo' pyrimidine base biosynthetic process|oxidation-reduction process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)									0.165746	43.259588	62.441499	30	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70603607	70603607	4663	16	G	A	A	38	38	DHODH	A	1	1
DHODH	1723	broad.mit.edu	36	16	70612603	70612603	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70612603C>T	uc002fbp.1	+	c.597C>T	c.(595-597)CGC>CGT	p.R199R	DHODH_uc010cgk.1_Non-coding_Transcript	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	199	Mitochondrial intermembrane (By similarity).		R -> C (in POADS).		'de novo' pyrimidine base biosynthetic process|oxidation-reduction process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)									0.32	19.091274	19.810964	8	17	CC		KEEP	---	---	---	---	capture			Silent	SNP	70612603	70612603	4663	16	C	T	T	27	27	DHODH	T	1	1
HPR	3250	broad.mit.edu	36	16	70667972	70667972	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70667972C>A	uc002fby.1	+	c.538C>A	c.(538-540)CTA>ATA	p.L180I	TXNL4B_uc010cgl.1_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein	180	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)												0.426087	255.675552	256.778387	98	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70667972	70667972	7629	16	C	A	A	32	32	HPR	A	3	3
HPR	3250	broad.mit.edu	36	16	70668070	70668070	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70668070G>T	uc002fby.1	+	c.636G>T	c.(634-636)AAG>AAT	p.K212N	TXNL4B_uc010cgl.1_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein	212	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)												0.224409	115.81967	133.569914	57	197	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70668070	70668070	7629	16	G	T	T	33	33	HPR	T	3	3
HPR	3250	broad.mit.edu	36	16	70668158	70668158	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70668158A>G	uc002fby.1	+	c.724A>G	c.(724-726)ATG>GTG	p.M242V	TXNL4B_uc010cgl.1_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein	242	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)												0.23301	116.214359	129.644585	48	158	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70668158	70668158	7629	16	A	G	G	8	8	HPR	G	4	4
DHX38	9785	broad.mit.edu	36	16	70687607	70687607	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70687607A>G	uc002fcb.1	+	c.50A>G	c.(49-51)GAT>GGT	p.D17G	TXNL4B_uc010cgl.1_5'Flank|TXNL4B_uc002fca.1_5'Flank|DHX38_uc010cgn.1_5'Flank	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	17					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0		Ovarian(137;0.125)				Melanoma(97;711 1442 7855 13832 28836)								0.267606	163.001041	173.373947	57	156	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70687607	70687607	4690	16	A	G	G	12	12	DHX38	G	4	4
DHX38	9785	broad.mit.edu	36	16	70687855	70687855	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70687855G>A	uc002fcb.1	+	c.298G>A	c.(298-300)GCT>ACT	p.A100T	TXNL4B_uc010cgl.1_5'Flank|TXNL4B_uc002fca.1_5'Flank|DHX38_uc010cgn.1_5'Flank	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	100					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0		Ovarian(137;0.125)				Melanoma(97;711 1442 7855 13832 28836)								0.111111	6.683884	20.147248	10	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70687855	70687855	4690	16	G	A	A	42	42	DHX38	A	2	2
PMFBP1	83449	broad.mit.edu	36	16	70714322	70714322	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70714322G>A	uc002fcc.2	-	c.2775C>T	c.(2773-2775)GGC>GGT	p.G925G	PMFBP1_uc002fcd.1_Silent_p.G920G|PMFBP1_uc002fce.1_Non-coding_Transcript|PMFBP1_uc002fcf.1_Silent_p.G775G	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	925										ovary(1)	1		Ovarian(137;0.179)												0.263158	80.66138	87.412259	35	98	GG		KEEP	---	---	---	---	capture			Silent	SNP	70714322	70714322	12560	16	G	A	A	38	38	PMFBP1	A	1	1
PMFBP1	83449	broad.mit.edu	36	16	70716738	70716738	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70716738G>T	uc002fcc.2	-	c.2336C>A	c.(2335-2337)GCT>GAT	p.A779D	PMFBP1_uc002fcd.1_Missense_Mutation_p.A774D|PMFBP1_uc002fce.1_Non-coding_Transcript|PMFBP1_uc002fcf.1_Missense_Mutation_p.A629D|PMFBP1_uc010cgo.1_Missense_Mutation_p.A70D	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	779	Potential.									ovary(1)	1		Ovarian(137;0.179)										OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.435385	794.10048	796.46939	283	367	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70716738	70716738	12560	16	G	T	T	34	34	PMFBP1	T	3	3
PMFBP1	83449	broad.mit.edu	36	16	70742068	70742068	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70742068G>A	uc002fcc.2	-	c.576C>T	c.(574-576)ATC>ATT	p.I192I	PMFBP1_uc002fcd.1_Silent_p.I192I|PMFBP1_uc002fce.1_Non-coding_Transcript|PMFBP1_uc002fcf.1_Silent_p.I47I	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	192	Potential.									ovary(1)	1		Ovarian(137;0.179)												0.471774	668.699636	669.04361	234	262	GG		KEEP	---	---	---	---	capture			Silent	SNP	70742068	70742068	12560	16	G	A	A	37	37	PMFBP1	A	1	1
ZFHX3	463	broad.mit.edu	36	16	71379569	71379569	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71379569C>A	uc002fck.1	-	c.10107G>T	c.(10105-10107)CAG>CAT	p.Q3369H	ZFHX3_uc002fcl.1_Missense_Mutation_p.Q2455H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	3369					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.258929	59.816621	65.720706	29	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71379569	71379569	18222	16	C	A	A	32	32	ZFHX3	A	3	3
ZFHX3	463	broad.mit.edu	36	16	71379733	71379733	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71379733A>C	uc002fck.1	-	c.9943T>G	c.(9943-9945)TTT>GTT	p.F3315V	ZFHX3_uc002fcl.1_Missense_Mutation_p.F2401V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	3315					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.465517	251.15846	251.338404	81	93	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71379733	71379733	18222	16	A	C	C	3	3	ZFHX3	C	4	4
ZFHX3	463	broad.mit.edu	36	16	71386200	71386200	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71386200C>T	uc002fck.1	-	c.7882G>A	c.(7882-7884)GAA>AAA	p.E2628K	ZFHX3_uc002fcl.1_Missense_Mutation_p.E1714K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	2628					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.224138	389.590706	446.440877	182	630	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71386200	71386200	18222	16	C	T	T	31	31	ZFHX3	T	1	1
ZFHX3	463	broad.mit.edu	36	16	71386849	71386849	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71386849C>T	uc002fck.1	-	c.7233G>A	c.(7231-7233)GCG>GCA	p.A2411A	ZFHX3_uc002fcl.1_Silent_p.A1497A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	2411					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.170213	77.763231	101.936225	40	195	CC		KEEP	---	---	---	---	capture			Silent	SNP	71386849	71386849	18222	16	C	T	T	23	23	ZFHX3	T	1	1
CCDC78	124093	broad.mit.edu	36	16	714936	714936	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:714936C>T	uc002cjg.1	-	c.615G>A	c.(613-615)GGG>GGA	p.G205G	CCDC78_uc002cjf.1_Silent_p.G54G|CCDC78_uc002cjh.1_5'UTR|CCDC78_uc002cji.2_Missense_Mutation_p.G339D|CCDC78_uc002cjj.2_Missense_Mutation_p.G209D|CCDC78_uc010brb.1_Missense_Mutation_p.G339D|CCDC78_uc002cjk.1_Missense_Mutation_p.G254D|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	205										central_nervous_system(1)	1		Hepatocellular(780;0.0218)												0.571429	45.200725	45.32521	16	12	CC		KEEP	---	---	---	---	capture			Silent	SNP	714936	714936	2975	16	C	T	T	26	26	CCDC78	T	2	2
ZFHX3	463	broad.mit.edu	36	16	71542179	71542179	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71542179C>T	uc002fck.1	-	c.2906G>A	c.(2905-2907)CGC>CAC	p.R969H	ZFHX3_uc002fcl.1_Missense_Mutation_p.R55H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	969					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.224638	62.256297	71.87309	31	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71542179	71542179	18222	16	C	T	T	27	27	ZFHX3	T	1	1
ZFHX3	463	broad.mit.edu	36	16	71550862	71550862	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71550862C>T	uc002fck.1	-	c.684G>A	c.(682-684)CTG>CTA	p.L228L	ZFHX3_uc002fcl.1_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	228					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.178462	96.569452	128.199096	58	267	CC		KEEP	---	---	---	---	capture			Silent	SNP	71550862	71550862	18222	16	C	T	T	25	25	ZFHX3	T	2	2
HAGHL	84264	broad.mit.edu	36	16	719082	719082	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:719082C>T	uc002cjl.1	+	c.786C>T	c.(784-786)TGC>TGT	p.C262C	CCDC78_uc002cjg.1_5'Flank|CCDC78_uc002cjh.1_5'Flank|CCDC78_uc002cji.2_5'Flank|CCDC78_uc002cjj.2_5'Flank|CCDC78_uc010brb.1_5'Flank|CCDC78_uc002cjk.1_5'Flank|HAGHL_uc002cjm.1_3'UTR|HAGHL_uc002cjn.1_3'UTR|HAGHL_uc002cjo.1_Missense_Mutation_p.R225W	NM_207112	NP_996995	Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like isoform 1	262							hydrolase activity|metal ion binding				0		Hepatocellular(780;0.00335)				Pancreas(46;538 1326 12403 32360)								0.207547	18.586714	22.79853	11	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	719082	719082	7228	16	C	T	T	27	27	HAGHL	T	1	1
GLG1	2734	broad.mit.edu	36	16	73082441	73082441	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73082441G>A	uc002fcx.1	-	c.1408C>T	c.(1408-1410)CGA>TGA	p.R470*	GLG1_uc002fcy.2_Nonsense_Mutation_p.R470*|GLG1_uc002fcz.2_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	golgi apparatus protein 1	470	Extracellular (Potential).|Cys-rich GLG1 6.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2									p.R470*(DV90-Tumor)	1034				0.161616	50.400977	71.956471	32	166	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	73082441	73082441	6704	16	G	A	A	37	37	GLG1	A	5	1
RFWD3	55159	broad.mit.edu	36	16	73222225	73222225	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73222225C>T	uc002fda.1	-	c.1709G>A	c.(1708-1710)CGA>CAA	p.R570Q	RFWD3_uc010cgq.1_Missense_Mutation_p.R570Q	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	570	WD 2.				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding				0														0.414815	152.166564	153.023747	56	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73222225	73222225	13733	16	C	T	T	31	31	RFWD3	T	1	1
RFWD3	55159	broad.mit.edu	36	16	73240557	73240557	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73240557C>T	uc002fda.1	-	c.766G>A	c.(766-768)GAT>AAT	p.D256N	RFWD3_uc010cgq.1_Missense_Mutation_p.D256N	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	256					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding				0														0.132979	31.541581	56.136291	25	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73240557	73240557	13733	16	C	T	T	31	31	RFWD3	T	1	1
FA2H	79152	broad.mit.edu	36	16	73318726	73318726	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73318726G>A	uc002fde.1	-	c.423C>T	c.(421-423)TAC>TAT	p.Y141Y		NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	141					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0														0.5125	110.588509	110.600637	41	39	GG		KEEP	---	---	---	---	capture			Silent	SNP	73318726	73318726	5549	16	G	A	A	40	40	FA2H	A	1	1
WDR59	79726	broad.mit.edu	36	16	73501047	73501047	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73501047C>T	uc002fdh.1	-	c.1495G>A	c.(1495-1497)GAC>AAC	p.D499N	WDR59_uc002fdi.2_Missense_Mutation_p.D499N|WDR59_uc002fdg.1_Missense_Mutation_p.D91N	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	499										ovary(1)|breast(1)	2														0.17029	93.24481	121.635296	47	229	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73501047	73501047	17881	16	C	T	T	32	32	WDR59	T	2	2
WDR59	79726	broad.mit.edu	36	16	73515400	73515400	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73515400G>T	uc002fdh.1	-	c.654C>A	c.(652-654)TTC>TTA	p.F218L	WDR59_uc002fdi.2_Missense_Mutation_p.F218L|WDR59_uc002fdj.1_Missense_Mutation_p.F218L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	218	WD 4.									ovary(1)|breast(1)	2														0.333333	21.160327	21.827384	9	18	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73515400	73515400	17881	16	G	T	T	33	33	WDR59	T	3	3
LDHD	197257	broad.mit.edu	36	16	73706325	73706325	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73706325C>A	uc002fdm.1	-	c.370G>T	c.(370-372)GAG>TAG	p.E124*	LDHD_uc002fdn.1_Nonsense_Mutation_p.E124*	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	124	FAD-binding PCMH-type.				oxidation-reduction process		D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0														0.431953	192.320523	192.985121	73	96	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	73706325	73706325	9027	16	C	A	A	30	30	LDHD	A	5	3
ZFP1	162239	broad.mit.edu	36	16	73760699	73760699	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73760699G>A	uc002fdo.1	+	c.190G>A	c.(190-192)GAC>AAC	p.D64N	ZFP1_uc002fdp.1_Missense_Mutation_p.D9N|ZFP1_uc010cgs.1_Missense_Mutation_p.D9N|ZFP1_uc010cgt.1_Missense_Mutation_p.D31N|ZFP1_uc002fdq.1_Missense_Mutation_p.D64N	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						NSCLC(187;1429 2122 10143 20357 42217)								0.45	160.428408	160.690657	54	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73760699	73760699	18224	16	G	A	A	33	33	ZFP1	A	2	2
ZFP1	162239	broad.mit.edu	36	16	73761135	73761135	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73761135A>G	uc002fdo.1	+	c.626A>G	c.(625-627)GAA>GGA	p.E209G	ZFP1_uc002fdp.1_Missense_Mutation_p.E154G|ZFP1_uc010cgs.1_Missense_Mutation_p.E154G|ZFP1_uc010cgt.1_Missense_Mutation_p.E176G|ZFP1_uc002fdq.1_Missense_Mutation_p.E209G	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						NSCLC(187;1429 2122 10143 20357 42217)								0.455224	207.130306	207.367114	61	73	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73761135	73761135	18224	16	A	G	G	9	9	ZFP1	G	4	4
CHST6	4166	broad.mit.edu	36	16	74070409	74070409	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:74070409G>A	uc002fef.1	-	c.819C>T	c.(817-819)TTC>TTT	p.F273F	CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Silent_p.F273F|CHST6_uc010cgv.1_Silent_p.F273F	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	273	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0														0.39	101.194997	102.256725	39	61	GG		KEEP	---	---	---	---	capture			Silent	SNP	74070409	74070409	3542	16	G	A	A	37	37	CHST6	A	1	1
ADAT1	23536	broad.mit.edu	36	16	74203864	74203864	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:74203864G>A	uc002feo.1	-	c.821C>T	c.(820-822)CCG>CTG	p.P274L	ADAT1_uc002fep.1_Missense_Mutation_p.P125L	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	274	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)	1														0.295082	137.883192	144.756005	54	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74203864	74203864	285	16	G	A	A	39	39	ADAT1	A	1	1
TERF2IP	54386	broad.mit.edu	36	16	74239309	74239309	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:74239309G>T	uc002fet.1	+	c.28G>T	c.(28-30)GAC>TAC	p.D10Y	KARS_uc002feq.1_5'Flank|KARS_uc002fer.1_5'Flank|KARS_uc002fes.1_5'Flank|KARS_uc010cha.1_Intron	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	10					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1														0.148936	24.378528	41.069144	21	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74239309	74239309	16290	16	G	T	T	33	33	TERF2IP	T	3	3
TERF2IP	54386	broad.mit.edu	36	16	74247779	74247779	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:74247779G>T	uc002fet.1	+	c.969G>T	c.(967-969)GAG>GAT	p.E323D		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	323					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1														0.234694	190.96816	216.241066	92	300	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74247779	74247779	16290	16	G	T	T	33	33	TERF2IP	T	3	3
CNTNAP4	85445	broad.mit.edu	36	16	75090029	75090029	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:75090029G>T	uc002fex.1	+	c.2311G>T	c.(2311-2313)GAC>TAC	p.D771Y	CNTNAP4_uc002feu.1_Missense_Mutation_p.D768Y|CNTNAP4_uc002fev.1_Missense_Mutation_p.D632Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.D695Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	768	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.488372	111.931456	111.941969	42	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75090029	75090029	3787	16	G	T	T	33	33	CNTNAP4	T	3	3
CNTNAP4	85445	broad.mit.edu	36	16	75127073	75127073	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:75127073C>T	uc002fex.1	+	c.2895C>T	c.(2893-2895)TGC>TGT	p.C965C	CNTNAP4_uc002feu.1_Silent_p.C962C|CNTNAP4_uc002fev.1_Silent_p.C826C|CNTNAP4_uc010chb.1_Silent_p.C889C	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	962	Extracellular (Potential).|EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.221477	65.582584	76.234235	33	116	CC		KEEP	---	---	---	---	capture			Silent	SNP	75127073	75127073	3787	16	C	T	T	25	25	CNTNAP4	T	2	2
MSLN	10232	broad.mit.edu	36	16	752730	752730	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:752730G>A	uc002cjw.1	+	c.49G>A	c.(49-51)GCC>ACC	p.A17T	MSLN_uc002cjt.1_Missense_Mutation_p.A17T|MSLN_uc002cju.1_Missense_Mutation_p.A17T|MSLN_uc010brd.1_Missense_Mutation_p.A17T|MSLN_uc002cjv.1_Missense_Mutation_p.A17T|MSLN_uc002cjx.1_Missense_Mutation_p.A17T	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	17				TPAL -> DRP (in Ref. 2; AAC50348).	cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)												0.183183	89.590579	120.920072	61	272	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	752730	752730	10274	16	G	A	A	38	38	MSLN	A	1	1
MSLN	10232	broad.mit.edu	36	16	756451	756451	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:756451C>T	uc002cjw.1	+	c.1190C>T	c.(1189-1191)GCT>GTT	p.A397V	MSLN_uc002cjt.1_Missense_Mutation_p.A397V|MSLN_uc002cju.1_Missense_Mutation_p.A397V|MSLN_uc010brd.1_Missense_Mutation_p.A396V|MSLN_uc002cjv.1_Missense_Mutation_p.A397V|MSLN_uc002cjx.1_Missense_Mutation_p.A397V|MSLN_uc002cjy.1_Missense_Mutation_p.A62V	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	397					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)												0.169565	67.127362	90.867236	39	191	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	756451	756451	10274	16	C	T	T	28	28	MSLN	T	2	2
MON1B	22879	broad.mit.edu	36	16	75787036	75787036	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:75787036C>T	uc002fez.1	+	c.1399C>T	c.(1399-1401)CGC>TGC	p.R467C	MON1B_uc002ffa.1_Missense_Mutation_p.R347C	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	467							protein binding				0														0.254335	94.801112	104.292686	44	129	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75787036	75787036	10090	16	C	T	T	27	27	MON1B	T	1	1
MSLN	10232	broad.mit.edu	36	16	758693	758693	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:758693C>A	uc002cjw.1	+	c.1852C>A	c.(1852-1854)CTC>ATC	p.L618I	MSLN_uc002cjt.1_Missense_Mutation_p.L610I|MSLN_uc002cju.1_Missense_Mutation_p.L610I|MSLN_uc010brd.1_Missense_Mutation_p.L609I|MSLN_uc002cjv.1_Missense_Mutation_p.L600I|MSLN_uc002cjx.1_Missense_Mutation_p.L610I|MSLN_uc002cjy.1_Missense_Mutation_p.S302Y	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	618					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)												0.434783	181.297312	181.898715	70	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	758693	758693	10274	16	C	A	A	32	32	MSLN	A	3	3
ADAMTS18	170692	broad.mit.edu	36	16	75882742	75882742	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:75882742C>A	uc002ffc.2	-	c.3324G>T	c.(3322-3324)GAG>GAT	p.E1108D		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1108	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.420245	337.858885	339.676559	137	189	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75882742	75882742	264	16	C	A	A	32	32	ADAMTS18	A	3	3
ADAMTS18	170692	broad.mit.edu	36	16	75947362	75947362	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:75947362C>T	uc002ffc.2	-	c.1436G>A	c.(1435-1437)CGC>CAC	p.R479H	ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	479	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.179487	75.493051	98.047562	42	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75947362	75947362	264	16	C	T	T	27	27	ADAMTS18	T	1	1
ADAMTS18	170692	broad.mit.edu	36	16	75953574	75953574	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:75953574C>A	uc002ffc.2	-	c.1145G>T	c.(1144-1146)AGA>ATA	p.R382I	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R78I	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	382	Peptidase M12B.		R -> K (in a colorectal cancer sample; somatic mutation).		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R382K(1)		large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.206667	58.828559	70.80591	31	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75953574	75953574	264	16	C	A	A	32	32	ADAMTS18	A	3	3
ADAMTS18	170692	broad.mit.edu	36	16	76022984	76022984	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:76022984T>G	uc002ffc.2	-	c.204A>C	c.(202-204)GAA>GAC	p.E68D	ADAMTS18_uc002ffe.1_5'UTR	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	68					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.222846	296.241771	333.964887	119	415	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76022984	76022984	264	16	T	G	G	56	56	ADAMTS18	G	4	4
MSLNL	401827	broad.mit.edu	36	16	760890	760890	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:760890C>T	uc002cjz.1	-	c.2496G>A	c.(2494-2496)GAG>GAA	p.E832E		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	481	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4														0.315789	16.542711	17.116424	6	13	CC		KEEP	---	---	---	---	capture			Silent	SNP	760890	760890	10275	16	C	T	T	32	32	MSLNL	T	2	2
VAT1L	57687	broad.mit.edu	36	16	76416663	76416663	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:76416663C>T	uc002ffg.1	+	c.383C>T	c.(382-384)GCA>GTA	p.A128V		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	128					oxidation-reduction process		oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1														0.190476	53.883978	68.953889	32	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76416663	76416663	17695	16	C	T	T	25	25	VAT1L	T	2	2
VAT1L	57687	broad.mit.edu	36	16	76416727	76416727	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:76416727C>T	uc002ffg.1	+	c.447C>T	c.(445-447)ATC>ATT	p.I149I		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	149					oxidation-reduction process		oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1														0.225352	70.420126	80.265606	32	110	CC		KEEP	---	---	---	---	capture			Silent	SNP	76416727	76416727	17695	16	C	T	T	30	30	VAT1L	T	2	2
CLEC3A	10143	broad.mit.edu	36	16	76619524	76619524	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:76619524G>T	uc002ffh.2	+	c.135G>T	c.(133-135)AAG>AAT	p.K45N		NM_005752	NP_005743	O75596	CLC3A_HUMAN	C-type lectin domain family 3 member A	45					skeletal system development	extracellular region	sugar binding				0														0.214286	71.498982	84.173793	36	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76619524	76619524	3648	16	G	T	T	33	33	CLEC3A	T	3	3
DYNLRB2	83657	broad.mit.edu	36	16	79140913	79140913	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79140913A>G	uc002ffo.1	+	c.111A>G	c.(109-111)TCA>TCG	p.S37S	DYNLRB2_uc002ffp.1_Non-coding_Transcript|DYNLRB2_uc002ffq.1_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	37					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity				0														0.215909	41.579415	48.131864	19	69	AA		KEEP	---	---	---	---	capture			Silent	SNP	79140913	79140913	5037	16	A	G	G	5	5	DYNLRB2	G	4	4
C16orf61	56942	broad.mit.edu	36	16	79567531	79567531	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79567531C>T	uc002ffu.1	-	c.200G>A	c.(199-201)CGA>CAA	p.R67Q	C16orf61_uc002ffv.1_Non-coding_Transcript	NM_020188	NP_064573	Q9NRP2	CP061_HUMAN	hypothetical protein LOC56942	67											0														0.219512	55.229901	64.180562	27	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79567531	79567531	1877	16	C	T	T	31	31	C16orf61	T	1	1
CENPN	55839	broad.mit.edu	36	16	79608906	79608906	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79608906C>T	uc002ffy.2	+	c.320C>T	c.(319-321)TCG>TTG	p.S107L	CENPN_uc002ffw.2_Missense_Mutation_p.S107L|CENPN_uc002ffx.2_Missense_Mutation_p.S107L	NM_001100625	NP_001094095	Q96H22	CENPN_HUMAN	centromere protein N isoform 1	107					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0														0.35514	101.381901	103.333061	38	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79608906	79608906	3371	16	C	T	T	31	31	CENPN	T	1	1
ATMIN	23300	broad.mit.edu	36	16	79634423	79634423	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79634423C>T	uc002ffz.1	+	c.819C>T	c.(817-819)GAC>GAT	p.D273D	ATMIN_uc002fga.1_Silent_p.D115D|ATMIN_uc002fgb.1_Silent_p.D115D	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	273	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding				0														0.427386	293.925947	295.045188	103	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	79634423	79634423	1129	16	C	T	T	20	20	ATMIN	T	2	2
PKD1L2	114780	broad.mit.edu	36	16	79724779	79724779	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79724779C>T	uc002fgh.1	-	c.5747G>A	c.(5746-5748)AGA>AAA	p.R1916K	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1916	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.246914	47.960256	52.683005	20	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79724779	79724779	12389	16	C	T	T	32	32	PKD1L2	T	2	2
PKD1L2	114780	broad.mit.edu	36	16	79732603	79732603	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79732603C>T	uc002fgh.1	-	c.5217G>A	c.(5215-5217)GCG>GCA	p.A1739A	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1739	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.230769	11.729486	13.465909	6	20	CC		KEEP	---	---	---	---	capture			Silent	SNP	79732603	79732603	12389	16	C	T	T	23	23	PKD1L2	T	1	1
PKD1L2	114780	broad.mit.edu	36	16	79745360	79745360	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79745360C>T	uc002fgh.1	-	c.4210G>A	c.(4210-4212)GCA>ACA	p.A1404T	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1404	Cytoplasmic (Potential).|PLAT.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.2	17.748397	21.916565	10	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79745360	79745360	12389	16	C	T	T	26	26	PKD1L2	T	2	2
PKD1L2	114780	broad.mit.edu	36	16	79755827	79755827	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79755827C>T	uc002fgh.1	-	c.3268G>A	c.(3268-3270)GAC>AAC	p.D1090N	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1090	REJ.|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														0.452055	193.923301	194.216636	66	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79755827	79755827	12389	16	C	T	T	32	32	PKD1L2	T	2	2
PKD1L2	114780	broad.mit.edu	36	16	79762174	79762174	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79762174C>T	uc002fgh.1	-	c.2785G>A	c.(2785-2787)GAG>AAG	p.E929K	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.1_Missense_Mutation_p.E244K|PKD1L2_uc002fgj.1_Missense_Mutation_p.E929K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	929	REJ.|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														0.2	37.99257	45.532708	18	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79762174	79762174	12389	16	C	T	T	32	32	PKD1L2	T	2	2
PKD1L2	114780	broad.mit.edu	36	16	79781784	79781784	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79781784G>A	uc002fgh.1	-	c.1658C>T	c.(1657-1659)GCT>GTT	p.A553V	PKD1L2_uc002fgj.1_Missense_Mutation_p.A553V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	553	REJ.|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														0.189103	122.425917	150.656855	59	253	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79781784	79781784	12389	16	G	A	A	34	34	PKD1L2	A	2	2
BCMO1	53630	broad.mit.edu	36	16	79878486	79878486	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79878486C>T	uc002fgn.1	+	c.1388C>T	c.(1387-1389)GCG>GTG	p.A463V		NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15, 15'-monooxygenase 1	463					oxidation-reduction process|retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding				0														0.471204	250.030706	250.168245	90	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79878486	79878486	1405	16	C	T	T	27	27	BCMO1	T	1	1
GAN	8139	broad.mit.edu	36	16	79948082	79948082	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79948082C>T	uc002fgo.1	+	c.825C>T	c.(823-825)ATC>ATT	p.I275I		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	275	Kelch 1.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GBM(106;1239 1507 7582 9741 33976)								0.455598	334.017308	334.461703	118	141	CC		KEEP	---	---	---	---	capture			Silent	SNP	79948082	79948082	6496	16	C	T	T	31	31	GAN	T	1	1
CMIP	80790	broad.mit.edu	36	16	80300894	80300894	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80300894G>A	uc002fgp.1	+	c.2209G>A	c.(2209-2211)GAA>AAA	p.E737K	CMIP_uc002fgq.1_Missense_Mutation_p.E677K|CMIP_uc002fgr.1_Missense_Mutation_p.E618K	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	737						cytoplasm|nucleus					0														0.444444	85.779386	85.974383	32	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80300894	80300894	3716	16	G	A	A	37	37	CMIP	A	1	1
PLCG2	5336	broad.mit.edu	36	16	80445680	80445680	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80445680G>A	uc002fgt.1	+	c.324G>A	c.(322-324)ACG>ACA	p.T108T	PLCG2_uc010chg.1_Silent_p.T108T	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	108	PH.				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										1880				0.432787	357.162003	358.35917	132	173	GG		KEEP	---	---	---	---	capture			Silent	SNP	80445680	80445680	12462	16	G	A	A	38	38	PLCG2	A	1	1
PLCG2	5336	broad.mit.edu	36	16	80450263	80450263	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80450263G>T	uc002fgt.1	+	c.473G>T	c.(472-474)AGA>ATA	p.R158I	PLCG2_uc010chg.1_Missense_Mutation_p.R158I	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	158					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										1880				0.359375	116.499958	118.734579	46	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80450263	80450263	12462	16	G	T	T	33	33	PLCG2	T	3	3
PLCG2	5336	broad.mit.edu	36	16	80480308	80480308	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80480308C>T	uc002fgt.1	+	c.796C>T	c.(796-798)CGT>TGT	p.R266C	PLCG2_uc010chg.1_Missense_Mutation_p.R266C	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	266					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										1880				0.473684	55.947804	55.970661	18	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80480308	80480308	12462	16	C	T	T	23	23	PLCG2	T	1	1
PLCG2	5336	broad.mit.edu	36	16	80482586	80482586	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80482586G>A	uc002fgt.1	+	c.876G>A	c.(874-876)ACG>ACA	p.T292T	PLCG2_uc010chg.1_Silent_p.T292T	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	292					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										1880				0.241379	47.432622	52.741004	21	66	GG		KEEP	---	---	---	---	capture			Silent	SNP	80482586	80482586	12462	16	G	A	A	40	40	PLCG2	A	1	1
PLCG2	5336	broad.mit.edu	36	16	80496566	80496566	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80496566G>A	uc002fgt.1	+	c.1420G>A	c.(1420-1422)GAA>AAA	p.E474K	PLCG2_uc010chg.1_Missense_Mutation_p.E474K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	474					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										1880				0.139785	17.912932	29.569203	13	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80496566	80496566	12462	16	G	A	A	37	37	PLCG2	A	1	1
PLCG2	5336	broad.mit.edu	36	16	80527349	80527349	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80527349G>A	uc002fgt.1	+	c.2917G>A	c.(2917-2919)GAC>AAC	p.D973N		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	973	PI-PLC Y-box.				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										1880				0.452381	159.158784	159.407323	57	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80527349	80527349	12462	16	G	A	A	37	37	PLCG2	A	1	1
PLCG2	5336	broad.mit.edu	36	16	80531084	80531084	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80531084T>G	uc002fgt.1	+	c.3400T>G	c.(3400-3402)TTT>GTT	p.F1134V		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	1134	C2.				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										1880				0.201018	172.992474	205.659852	79	314	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80531084	80531084	12462	16	T	G	G	56	56	PLCG2	G	4	4
SDR42E1	93517	broad.mit.edu	36	16	80590307	80590307	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80590307C>T	uc002fgu.1	-	c.1092G>A	c.(1090-1092)TCG>TCA	p.S364S		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	NAD(P) dependent steroid dehydrogenase-like	364					oxidation-reduction process|steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding				0														0.263736	124.155958	133.321218	48	134	CC		KEEP	---	---	---	---	capture			Silent	SNP	80590307	80590307	14459	16	C	T	T	23	23	SDR42E1	T	1	1
CDH13	1012	broad.mit.edu	36	16	82339219	82339219	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82339219C>A	uc002fgx.1	+	c.1544C>A	c.(1543-1545)TCT>TAT	p.S515Y		NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	515	Cadherin 4.				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)												0.196544	171.113892	210.893103	91	372	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(5;0.0268)	Missense_Mutation	SNP	82339219	82339219	3228	16	C	A	A	32	32	CDH13	A	3	3
OSGIN1	29948	broad.mit.edu	36	16	82551692	82551692	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82551692C>T	uc002fha.1	+	c.471C>T	c.(469-471)TCC>TCT	p.S157S	OSGIN1_uc002fhb.1_Silent_p.S74S|OSGIN1_uc002fhc.1_Silent_p.S74S	NM_013370	NP_892026	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	157					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0														0.152778	39.783179	56.373324	22	122	CC		KEEP	---	---	---	---	capture			Silent	SNP	82551692	82551692	11700	16	C	T	T	23	23	OSGIN1	T	1	1
NECAB2	54550	broad.mit.edu	36	16	82581676	82581676	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82581676C>T	uc002fhd.1	+	c.536C>T	c.(535-537)TCG>TTG	p.S179L	NECAB2_uc002fhe.1_Missense_Mutation_p.S96L	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	179	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2														0.197531	60.86979	74.635058	32	130	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82581676	82581676	10704	16	C	T	T	31	31	NECAB2	T	1	1
MBTPS1	8720	broad.mit.edu	36	16	82650453	82650453	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82650453C>T	uc002fhi.1	-	c.2786G>A	c.(2785-2787)CGC>CAC	p.R929H	MBTPS1_uc002fhh.1_Missense_Mutation_p.R433H	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	929	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2														0.453846	161.81316	162.052319	59	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82650453	82650453	9750	16	C	T	T	27	27	MBTPS1	T	1	1
NPRL3	8131	broad.mit.edu	36	16	82654	82654	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82654C>A	uc002cfr.1	-	c.1101G>T	c.(1099-1101)AAG>AAT	p.K367N	NPRL3_uc002cfp.1_Non-coding_Transcript|NPRL3_uc002cfq.1_Missense_Mutation_p.K188N|NPRL3_uc002cfs.1_Missense_Mutation_p.K342N	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	367							protein binding			ovary(1)	1														0.303571	44.952146	46.8815	17	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82654	82654	11003	16	C	A	A	20	20	NPRL3	A	3	3
MBTPS1	8720	broad.mit.edu	36	16	82661032	82661032	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82661032C>T	uc002fhi.1	-	c.1895G>A	c.(1894-1896)CGC>CAC	p.R632H	MBTPS1_uc002fhh.1_Missense_Mutation_p.R136H	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	632	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2														0.444712	497.195416	498.304954	185	231	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82661032	82661032	9750	16	C	T	T	27	27	MBTPS1	T	1	1
HSDL1	83693	broad.mit.edu	36	16	82715780	82715780	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82715780G>T	uc002fhk.1	-	c.949C>A	c.(949-951)CTC>ATC	p.L317I		NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	317					oxidation-reduction process	mitochondrion	oxidoreductase activity|protein binding				0														0.493151	98.287339	98.290488	36	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82715780	82715780	7688	16	G	T	T	33	33	HSDL1	T	3	3
LRRC50	123872	broad.mit.edu	36	16	82756923	82756923	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82756923C>T	uc002fhl.2	+	c.897C>T	c.(895-897)TAC>TAT	p.Y299Y		NM_178452	NP_848547	Q8NEP3	LRC50_HUMAN	leucine rich repeat containing 50	299					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			ovary(4)|pancreas(1)	5														0.199234	95.843696	117.826913	52	209	CC		KEEP	---	---	---	---	capture			Silent	SNP	82756923	82756923	9384	16	C	T	T	19	19	LRRC50	T	1	1
CRISPLD2	83716	broad.mit.edu	36	16	83459965	83459965	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:83459965C>T	uc002fip.1	+	c.861C>T	c.(859-861)GTC>GTT	p.V287V	CRISPLD2_uc002fio.1_Silent_p.V286V|CRISPLD2_uc002fim.1_Silent_p.V287V|CRISPLD2_uc002fin.2_Silent_p.V287V	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	287	LCCL 1.					extracellular region|transport vesicle					0														0.121951	16.33295	33.558468	15	108	CC		KEEP	---	---	---	---	capture			Silent	SNP	83459965	83459965	4022	16	C	T	T	31	31	CRISPLD2	T	1	1
CRISPLD2	83716	broad.mit.edu	36	16	83471682	83471682	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:83471682C>A	uc002fip.1	+	c.1296C>A	c.(1294-1296)ATC>ATA	p.I432I	CRISPLD2_uc002fio.1_Silent_p.I431I|CRISPLD2_uc002fin.2_Silent_p.I432I	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	432	LCCL 2.					extracellular region|transport vesicle					0														0.172297	84.917371	114.980405	51	245	CC		KEEP	---	---	---	---	capture			Silent	SNP	83471682	83471682	4022	16	C	A	A	32	32	CRISPLD2	A	3	3
ZDHHC7	55625	broad.mit.edu	36	16	83573071	83573071	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:83573071C>A	uc002fiq.1	-	c.346G>T	c.(346-348)GAA>TAA	p.E116*	ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	116						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1														0.442424	384.757858	385.716664	146	184	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	83573071	83573071	18208	16	C	A	A	32	32	ZDHHC7	A	5	3
FAM92B	339145	broad.mit.edu	36	16	83693385	83693385	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:83693385G>A	uc010chm.1	-	c.587C>T	c.(586-588)GCG>GTG	p.A196V	FAM92B_uc010chn.1_Missense_Mutation_p.A196V	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	196										central_nervous_system(1)	1														0.211765	106.60954	126.203357	54	201	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83693385	83693385	5889	16	G	A	A	38	38	FAM92B	A	1	1
KIAA0182	23199	broad.mit.edu	36	16	84259293	84259293	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:84259293G>A	uc002fix.1	+	c.3177G>A	c.(3175-3177)ACG>ACA	p.T1059T	KIAA0182_uc002fiw.1_Silent_p.T955T|KIAA0182_uc002fiy.1_Silent_p.T986T|KIAA0182_uc002fiz.1_Silent_p.T201T|KIAA0182_uc010cho.1_Silent_p.T239T	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	1059							protein binding			large_intestine(3)|ovary(1)|skin(1)	5														0.202941	124.629704	152.482015	69	271	GG		KEEP	---	---	---	---	capture			Silent	SNP	84259293	84259293	8466	16	G	A	A	40	40	KIAA0182	A	1	1
COX4NB	10328	broad.mit.edu	36	16	84371540	84371540	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:84371540G>A	uc002fjd.1	-	c.419C>T	c.(418-420)ACG>ATG	p.T140M		NM_006067	NP_006058	O43402	CX4NB_HUMAN	COX4 neighbor isoform 1	140						mitochondrion|nucleus					0														0.515152	95.844527	95.85752	34	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84371540	84371540	3909	16	G	A	A	40	40	COX4NB	A	1	1
IRF8	3394	broad.mit.edu	36	16	84509792	84509792	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:84509792G>A	uc002fjh.1	+	c.870G>A	c.(868-870)AAG>AAA	p.K290K	IRF8_uc010chp.1_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	290					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)												0.236111	37.43448	42.022356	17	55	GG		KEEP	---	---	---	---	capture			Silent	SNP	84509792	84509792	8139	16	G	A	A	34	34	IRF8	A	2	2
FBXO31	79791	broad.mit.edu	36	16	85922567	85922567	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:85922567C>T	uc002fjw.1	-	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H	FBXO31_uc002fjv.1_Missense_Mutation_p.R375H	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	483					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1														0.270833	27.381006	29.639825	13	35	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0272)	Missense_Mutation	SNP	85922567	85922567	5978	16	C	T	T	27	27	FBXO31	T	1	1
FBXO31	79791	broad.mit.edu	36	16	85927352	85927352	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:85927352C>A	uc002fjw.1	-	c.752G>T	c.(751-753)AGG>ATG	p.R251M	FBXO31_uc002fjv.1_Missense_Mutation_p.R143M	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	251					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1														0.191011	57.334791	73.248502	34	144	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0272)	Missense_Mutation	SNP	85927352	85927352	5978	16	C	A	A	24	24	FBXO31	A	3	3
MAP1LC3B	81631	broad.mit.edu	36	16	85989951	85989951	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:85989951C>T	uc002fjx.1	+	c.70C>T	c.(70-72)CGA>TGA	p.R24*	MAP1LC3B_uc010chs.1_Non-coding_Transcript	NM_022818	NP_073729	Q9GZQ8	MLP3B_HUMAN	microtubule-associated proteins 1A/1B light	24					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding				0														0.423256	253.381713	254.487505	91	124	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0249)	Nonsense_Mutation	SNP	85989951	85989951	9614	16	C	T	T	31	31	MAP1LC3B	T	5	1
ZCCHC14	23174	broad.mit.edu	36	16	86003718	86003718	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86003718C>T	uc002fjz.1	-	c.1699G>A	c.(1699-1701)GCA>ACA	p.A567T	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.2_Missense_Mutation_p.A343T	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	567					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(1)	1														0.247525	50.312078	55.985471	25	76	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0285)	Missense_Mutation	SNP	86003718	86003718	18171	16	C	T	T	27	27	ZCCHC14	T	1	1
ZCCHC14	23174	broad.mit.edu	36	16	86010002	86010002	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86010002C>T	uc002fjz.1	-	c.641G>A	c.(640-642)GGC>GAC	p.G214D	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.2_5'UTR	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	214					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(1)	1														0.314286	58.320642	60.471164	22	48	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0285)	Missense_Mutation	SNP	86010002	86010002	18171	16	C	T	T	26	26	ZCCHC14	T	2	2
JPH3	57338	broad.mit.edu	36	16	86275260	86275260	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86275260C>A	uc002fkd.1	+	c.1172C>A	c.(1171-1173)TCT>TAT	p.S391Y		NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	391	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														0.461538	95.38141	95.482767	36	42	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0287)	Missense_Mutation	SNP	86275260	86275260	8266	16	C	A	A	32	32	JPH3	A	3	3
JPH3	57338	broad.mit.edu	36	16	86280799	86280799	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86280799C>T	uc002fkd.1	+	c.1332C>T	c.(1330-1332)ATC>ATT	p.I444I		NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	444	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														0.636364	84.007246	84.726575	28	16	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0287)	Silent	SNP	86280799	86280799	8266	16	C	T	T	31	31	JPH3	T	1	1
JPH3	57338	broad.mit.edu	36	16	86281511	86281511	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86281511C>T	uc002fkd.1	+	c.2044C>T	c.(2044-2046)CGG>TGG	p.R682W		NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	682	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														0.3	7.021111	7.378547	3	7	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0287)	Missense_Mutation	SNP	86281511	86281511	8266	16	C	T	T	27	27	JPH3	T	1	1
KLHDC4	54758	broad.mit.edu	36	16	86317878	86317878	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86317878C>T	uc002fki.1	-	c.753G>A	c.(751-753)TCG>TCA	p.S251S	KLHDC4_uc002fkj.1_Silent_p.S220S|KLHDC4_uc010cht.1_Silent_p.S70S|KLHDC4_uc002fkk.2_Silent_p.S70S|KLHDC4_uc002fkl.2_Silent_p.S194S|KLHDC4_uc010chu.1_Silent_p.S70S	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	251	Kelch 4.									pancreas(2)	2														0.46087	150.768631	150.920834	53	62	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0283)	Silent	SNP	86317878	86317878	8670	16	C	T	T	31	31	KLHDC4	T	1	1
CA5A	763	broad.mit.edu	36	16	86479262	86479262	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86479262C>T	uc002fkn.1	-	c.892G>A	c.(892-894)GCC>ACC	p.A298T		NM_001739	NP_001730	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial precursor	298					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding				0														0.197917	77.848076	94.157957	38	154	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0513)	Missense_Mutation	SNP	86479262	86479262	2635	16	C	T	T	26	26	CA5A	T	2	2
CA5A	763	broad.mit.edu	36	16	86527464	86527464	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86527464G>A	uc002fkn.1	-	c.94C>T	c.(94-96)CGA>TGA	p.R32*		NM_001739	NP_001730	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial precursor	32					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding				0														0.390681	283.087381	286.013483	109	170	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0513)	Nonsense_Mutation	SNP	86527464	86527464	2635	16	G	A	A	38	38	CA5A	A	5	1
BANP	54971	broad.mit.edu	36	16	86667706	86667706	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86667706G>T	uc002fkr.1	+	c.1495G>T	c.(1495-1497)GCC>TCC	p.A499S	BANP_uc002fkp.1_Missense_Mutation_p.A472S|BANP_uc002fkq.1_Missense_Mutation_p.A450S|BANP_uc002fks.2_Missense_Mutation_p.A446S	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	500					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0														0.245283	29.953699	33.082779	13	40	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.00551)	Missense_Mutation	SNP	86667706	86667706	1331	16	G	T	T	34	34	BANP	T	3	3
MVD	4597	broad.mit.edu	36	16	87252619	87252619	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87252619G>A	uc002flg.1	-	c.81C>T	c.(79-81)CGC>CGT	p.R27R	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	diphosphomevalonate decarboxylase	27					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity				0														0.1875	20.362068	26.217825	12	52	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0478)	Silent	SNP	87252619	87252619	10388	16	G	A	A	38	38	MVD	A	1	1
CTU2	348180	broad.mit.edu	36	16	87305575	87305575	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87305575G>A	uc010chz.1	+	c.314G>A	c.(313-315)CGC>CAC	p.R105H	CTU2_uc002flm.1_Missense_Mutation_p.R105H|CTU2_uc002fln.1_Missense_Mutation_p.R105H|CTU2_uc010cia.1_Missense_Mutation_p.R18H	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	hypothetical protein LOC348180 isoform 1	105					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1														0.528889	334.30517	334.467358	119	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87305575	87305575	4207	16	G	A	A	38	38	CTU2	A	1	1
PABPN1L	390748	broad.mit.edu	36	16	87459484	87459484	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87459484G>T	uc002fmh.1	-	c.447C>A	c.(445-447)GTC>GTA	p.V149V	PABPN1L_uc002fmi.1_Silent_p.V149V|PABPN1L_uc002fmj.1_Silent_p.V149V	NM_001080487	NP_001073956	A6NDY0	EPAB2_HUMAN	similar to poly(A)binding protein nuclear-like	149	RRM.					cytoplasm	nucleotide binding|RNA binding				0														0.4	36.340297	36.647013	14	21	GG		KEEP	---	---	---	---	capture			Silent	SNP	87459484	87459484	11785	16	G	T	T	33	33	PABPN1L	T	3	3
ABAT	18	broad.mit.edu	36	16	8747394	8747394	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:8747394G>A	uc002czc.2	+	c.106G>A	c.(106-108)GAC>AAC	p.D36N	ABAT_uc002czd.2_Missense_Mutation_p.D36N|ABAT_uc010buh.1_Intron|ABAT_uc010bui.1_Missense_Mutation_p.D36N	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	36					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding				0					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)									0.1875	54.52373	69.20837	30	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8747394	8747394	28	16	G	A	A	37	37	ABAT	A	1	1
CBFA2T3	863	broad.mit.edu	36	16	87485818	87485818	+	Silent	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87485818C>G	uc002fmm.1	-	c.684G>C	c.(682-684)CTG>CTC	p.L228L	CBFA2T3_uc002fmn.1_Silent_p.L203L|CBFA2T3_uc002fml.1_Silent_p.L142L|CBFA2T3_uc010cif.1_Silent_p.L167L	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	228	TAFH.|Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation|regulation of transcription, DNA-dependent	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)	3										305				0.108696	6.960379	13.921365	5	41	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0275)	Silent	SNP	87485818	87485818	2817	16	C	G	G	25	25	CBFA2T3	G	3	3
ACSF3	197322	broad.mit.edu	36	16	87706045	87706045	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87706045C>A	uc002fmp.2	+	c.867C>A	c.(865-867)GTC>GTA	p.V289V	ACSF3_uc010cig.1_Silent_p.V289V|ACSF3_uc010cih.1_Silent_p.V24V|ACSF3_uc002fmq.1_Non-coding_Transcript|ACSF3_uc010cii.1_Non-coding_Transcript|ACSF3_uc002fmr.1_Silent_p.V24V	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	289					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0														0.42539	499.088198	501.280154	191	258	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0281)	Silent	SNP	87706045	87706045	177	16	C	A	A	32	32	ACSF3	A	3	3
CDH15	1013	broad.mit.edu	36	16	87779192	87779192	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87779192G>A	uc002fmt.1	+	c.613G>A	c.(613-615)GAC>AAC	p.D205N	CDH15_uc010cij.1_Missense_Mutation_p.D205N	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	205	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding				0														0.485714	47.669984	47.676307	17	18	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0261)	Missense_Mutation	SNP	87779192	87779192	3229	16	G	A	A	37	37	CDH15	A	1	1
ANKRD11	29123	broad.mit.edu	36	16	87875270	87875270	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87875270G>A	uc002fmx.1	-	c.5181C>T	c.(5179-5181)TGC>TGT	p.C1727C	ANKRD11_uc002fmy.1_Silent_p.C1727C|ANKRD11_uc002fnc.1_Silent_p.C1727C|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.C1684C	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1727						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)												0.43318	241.671688	242.522561	94	123	GG		KEEP	---	---	---	---	capture		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	Silent	SNP	87875270	87875270	642	16	G	A	A	46	46	ANKRD11	A	2	2
ANKRD11	29123	broad.mit.edu	36	16	87875481	87875481	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87875481G>A	uc002fmx.1	-	c.4970C>T	c.(4969-4971)TCG>TTG	p.S1657L	ANKRD11_uc002fmy.1_Missense_Mutation_p.S1657L|ANKRD11_uc002fnc.1_Missense_Mutation_p.S1657L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.S1614L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1657						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)												0.208696	185.579595	221.72021	96	364	GG		KEEP	---	---	---	---	capture		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	Missense_Mutation	SNP	87875481	87875481	642	16	G	A	A	37	37	ANKRD11	A	1	1
ANKRD11	29123	broad.mit.edu	36	16	87878819	87878819	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87878819C>T	uc002fmx.1	-	c.1632G>A	c.(1630-1632)AAG>AAA	p.K544K	ANKRD11_uc002fmy.1_Silent_p.K544K|ANKRD11_uc002fnc.1_Silent_p.K544K|ANKRD11_uc002fnb.1_Silent_p.K501K	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	544	Ser-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)												0.436782	212.648958	213.25901	76	98	CC		KEEP	---	---	---	---	capture		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	Silent	SNP	87878819	87878819	642	16	C	T	T	28	28	ANKRD11	T	2	2
ANKRD11	29123	broad.mit.edu	36	16	87879238	87879238	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87879238G>A	uc002fmx.1	-	c.1213C>T	c.(1213-1215)CGT>TGT	p.R405C	ANKRD11_uc002fmy.1_Missense_Mutation_p.R405C|ANKRD11_uc002fnc.1_Missense_Mutation_p.R405C|ANKRD11_uc002fnb.1_Missense_Mutation_p.R362C	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	405						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)												0.486726	308.798269	308.833832	110	116	GG		KEEP	---	---	---	---	capture		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	Missense_Mutation	SNP	87879238	87879238	642	16	G	A	A	37	37	ANKRD11	A	1	1
TMEM186	25880	broad.mit.edu	36	16	8797801	8797801	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:8797801C>T	uc002cze.1	-	c.151G>A	c.(151-153)GCA>ACA	p.A51T	PMM2_uc002czf.2_5'Flank|PMM2_uc010buj.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	transmembrane protein 186	51						integral to membrane|mitochondrion				ovary(1)	1														0.21875	115.354538	134.025217	56	200	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8797801	8797801	16642	16	C	T	T	27	27	TMEM186	T	1	1
CDK10	8558	broad.mit.edu	36	16	88285786	88285786	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88285786C>A	uc010cio.1	+	c.407C>A	c.(406-408)TCG>TAG	p.S136*	CDK10_uc002foa.2_Nonsense_Mutation_p.S130*|CDK10_uc002fob.2_Nonsense_Mutation_p.S65*|CDK10_uc002fog.2_Nonsense_Mutation_p.S65*|CDK10_uc002foh.2_Nonsense_Mutation_p.S65*|CDK10_uc010cip.1_Nonsense_Mutation_p.S65*|CDK10_uc002fod.1_Nonsense_Mutation_p.S107*|CDK10_uc002fof.1_Nonsense_Mutation_p.S107*|CDK10_uc002foe.1_Nonsense_Mutation_p.S65*|CDK10_uc002foi.1_5'Flank	NM_052988	NP_443714	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10 isoform a	136	Protein kinase.				negative regulation of cell proliferation|protein phosphorylation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)								478				0.233577	81.035892	89.932057	32	105	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0276)	Nonsense_Mutation	SNP	88285786	88285786	3254	16	C	A	A	31	31	CDK10	A	5	3
SPATA2L	124044	broad.mit.edu	36	16	88295000	88295000	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88295000C>T	uc002foj.1	-	c.142G>A	c.(142-144)GCG>ACG	p.A48T	SPATA2L_uc002fok.1_Missense_Mutation_p.A48T	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	48											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)												0.529412	25.773263	25.785908	9	8	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0272)	Missense_Mutation	SNP	88295000	88295000	15518	16	C	T	T	26	26	SPATA2L	T	2	2
FANCA	2175	broad.mit.edu	36	16	88334724	88334724	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88334724G>T	uc002fou.1	-	c.3817C>A	c.(3817-3819)CTG>ATG	p.L1273M	ZNF276_uc010ciq.1_3'UTR|ZNF276_uc002foq.2_3'UTR|ZNF276_uc010cir.1_Non-coding_Transcript|ZNF276_uc002for.2_3'UTR|ZNF276_uc010cis.1_3'UTR|ZNF276_uc002fos.2_3'UTR|ZNF276_uc002fot.2_Non-coding_Transcript	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1273					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)								1099				0.255814	23.600447	25.929481	11	32	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.028)	Missense_Mutation	SNP	88334724	88334724	5898	16	G	T	T	33	33	FANCA	T	3	3
FANCA	2175	broad.mit.edu	36	16	88376801	88376801	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88376801G>A	uc002fou.1	-	c.1593C>T	c.(1591-1593)TAC>TAT	p.Y531Y		NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	531					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)								1099				0.192661	40.210101	49.827092	21	88	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.028)	Silent	SNP	88376801	88376801	5898	16	G	A	A	40	40	FANCA	A	1	1
TCF25	22980	broad.mit.edu	36	16	88492558	88492558	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88492558G>T	uc002fpb.1	+	c.1115G>T	c.(1114-1116)AGT>ATT	p.S372I	TCF25_uc002fpc.1_Missense_Mutation_p.S137I	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	372					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)												0.132653	31.303579	57.00503	26	170	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0288)	Missense_Mutation	SNP	88492558	88492558	16219	16	G	T	T	35	35	TCF25	T	3	3
TCF25	22980	broad.mit.edu	36	16	88504532	88504532	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88504532C>T	uc002fpb.1	+	c.1832C>T	c.(1831-1833)GCT>GTT	p.A611V	TCF25_uc002fpc.1_Silent_p.C415C	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	611					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)										OREG0024057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.481081	265.454419	265.512562	89	96	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0288)	Missense_Mutation	SNP	88504532	88504532	16219	16	C	T	T	28	28	TCF25	T	2	2
TUBB3	10381	broad.mit.edu	36	16	88514046	88514046	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88514046C>T	uc002fpf.2	+	c.879C>T	c.(877-879)ATC>ATT	p.I293I	MC1R_uc002fpe.2_Silent_p.I293I|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)												0.198529	52.559872	64.058056	27	109	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Silent	SNP	88514046	88514046	17312	16	C	T	T	31	31	TUBB3	T	1	1
TUBB3	10381	broad.mit.edu	36	16	88528948	88528948	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88528948G>A	uc002fpf.2	+	c.1629G>A	c.(1627-1629)ACG>ACA	p.T543T	TUBB3_uc010ciz.1_Silent_p.T124T|TUBB3_uc002fpg.1_Silent_p.T50T|TUBB3_uc002fph.1_Silent_p.T196T|TUBB3_uc002fpi.1_Silent_p.T124T|TUBB3_uc002fpj.1_Silent_p.T124T|TUBB3_uc010cjb.1_Silent_p.T50T|TUBB3_uc002fpk.1_Silent_p.T50T	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	196					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)												0.239044	143.613723	159.197785	60	191	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Silent	SNP	88528948	88528948	17312	16	G	A	A	39	39	TUBB3	A	1	1
DEF8	54849	broad.mit.edu	36	16	88557279	88557279	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88557279G>A	uc002fpn.1	+	c.1112G>A	c.(1111-1113)CGC>CAC	p.R371H	DEF8_uc002fpo.1_Missense_Mutation_p.R310H|DEF8_uc002fpp.1_Missense_Mutation_p.R300H|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	371					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)												0.315385	98.539095	102.475106	41	89	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0274)	Missense_Mutation	SNP	88557279	88557279	4558	16	G	A	A	38	38	DEF8	A	1	1
PRDM7	11105	broad.mit.edu	36	16	88655940	88655940	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88655940G>A	uc010cje.1	-	c.772C>T	c.(772-774)CTT>TTT	p.L258F	PRDM7_uc002fqo.1_Missense_Mutation_p.L52F|PRDM7_uc010cjf.1_Missense_Mutation_p.L141F|PRDM7_uc010cjg.1_Missense_Mutation_p.L52F|PRDM7_uc010cjh.1_Non-coding_Transcript	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	258	SET.					chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)												0.188482	66.896985	84.243834	36	155	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0278)	Missense_Mutation	SNP	88655940	88655940	12904	16	G	A	A	34	34	PRDM7	A	2	2
USP7	7874	broad.mit.edu	36	16	8899904	8899904	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:8899904T>G	uc002czl.2	-	c.2625A>C	c.(2623-2625)AAA>AAC	p.K875N	USP7_uc002czk.2_Missense_Mutation_p.K859N|USP7_uc002czj.2_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific protease 7	875					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3														0.206897	109.346046	125.499541	42	161	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8899904	8899904	17652	16	T	G	G	60	60	USP7	G	4	4
USP7	7874	broad.mit.edu	36	16	8901978	8901978	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:8901978G>A	uc002czl.2	-	c.2219C>T	c.(2218-2220)CCG>CTG	p.P740L	USP7_uc002czk.2_Missense_Mutation_p.P724L|USP7_uc002czj.2_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific protease 7	740	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3														0.180451	51.81105	64.590474	24	109	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8901978	8901978	17652	16	G	A	A	39	39	USP7	A	1	1
USP7	7874	broad.mit.edu	36	16	8906596	8906596	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:8906596G>A	uc002czl.2	-	c.1522C>T	c.(1522-1524)CGA>TGA	p.R508*	USP7_uc002czk.2_Nonsense_Mutation_p.R492*|USP7_uc002czj.2_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific protease 7	508					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3												OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.208145	93.320101	110.76651	46	175	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	8906596	8906596	17652	16	G	A	A	37	37	USP7	A	5	1
LMF1	64788	broad.mit.edu	36	16	944443	944443	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:944443C>T	uc002ckj.1	-	c.418G>A	c.(418-420)GTA>ATA	p.V140I	LMF1_uc010brh.1_5'UTR|LMF1_uc010bri.1_Intron|LMF1_uc002ckk.1_5'UTR	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	lipase maturation factor 1	140	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)												0.2	19.824124	24.008436	10	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	944443	944443	9174	16	C	T	T	19	19	LMF1	T	1	1
LMF1	64788	broad.mit.edu	36	16	944666	944666	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:944666G>A	uc002ckj.1	-	c.195C>T	c.(193-195)TTC>TTT	p.F65F	LMF1_uc010brh.1_5'UTR|LMF1_uc010bri.1_Intron|LMF1_uc002ckk.1_5'UTR	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	lipase maturation factor 1	65	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)												0.289474	55.715961	58.737108	22	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	944666	944666	9174	16	G	A	A	37	37	LMF1	A	1	1
GRIN2A	2903	broad.mit.edu	36	16	9764522	9764522	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:9764522G>A	uc002czp.1	-	c.4380C>T	c.(4378-4380)ATC>ATT	p.I1460I	GRIN2A_uc002czq.1_Silent_p.I1460I|GRIN2A_uc002czr.2_3'UTR|GRIN2A_uc002czo.2_5'Flank	NM_000833	NP_000824	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1460	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			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.162338	41.274422	57.975264	25	129	GG		KEEP	---	---	---	---	capture			Silent	SNP	9764522	9764522	7058	16	G	A	A	37	37	GRIN2A	A	1	1
GRIN2A	2903	broad.mit.edu	36	16	9765600	9765600	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:9765600A>G	uc002czp.1	-	c.3302T>C	c.(3301-3303)GTC>GCC	p.V1101A	GRIN2A_uc002czq.1_Missense_Mutation_p.V1101A|GRIN2A_uc002czr.2_Missense_Mutation_p.V1101A	NM_000833	NP_000824	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1101	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			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.225722	217.166539	243.607451	86	295	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9765600	9765600	7058	16	A	G	G	10	10	GRIN2A	G	4	4
GRIN2A	2903	broad.mit.edu	36	16	9939565	9939565	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:9939565G>T	uc002czp.1	-	c.759C>A	c.(757-759)TTC>TTA	p.F253L	GRIN2A_uc002czq.1_Missense_Mutation_p.F253L|GRIN2A_uc002czr.2_Missense_Mutation_p.F253L	NM_000833	NP_000824	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	253	Extracellular (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			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)				p.F253L(JHUEM7-Tumor)	324				0.19708	48.634407	60.359322	27	110	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9939565	9939565	7058	16	G	T	T	33	33	GRIN2A	T	3	3
MYH13	8735	broad.mit.edu	36	17	10147463	10147463	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10147463T>C	uc002gmk.1	-	c.5544A>G	c.(5542-5544)GAA>GAG	p.E1848E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1848	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.471125	529.086083	529.325295	155	174	TT		KEEP	---	---	---	---	capture			Silent	SNP	10147463	10147463	10427	17	T	C	C	60	60	MYH13	C	4	4
MYH13	8735	broad.mit.edu	36	17	10150614	10150614	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10150614G>A	uc002gmk.1	-	c.5353C>T	c.(5353-5355)CGG>TGG	p.R1785W		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1785	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.181495	80.454426	107.262572	51	230	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10150614	10150614	10427	17	G	A	A	38	38	MYH13	A	1	1
MYH13	8735	broad.mit.edu	36	17	10156736	10156736	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10156736G>A	uc002gmk.1	-	c.4245C>T	c.(4243-4245)TGC>TGT	p.C1415C		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1415	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.5	86.787475	86.787475	32	32	GG		KEEP	---	---	---	---	capture			Silent	SNP	10156736	10156736	10427	17	G	A	A	38	38	MYH13	A	1	1
MYH13	8735	broad.mit.edu	36	17	10157339	10157339	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10157339G>A	uc002gmk.1	-	c.4042C>T	c.(4042-4044)CGG>TGG	p.R1348W		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1348	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.207358	117.233395	140.937899	62	237	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10157339	10157339	10427	17	G	A	A	38	38	MYH13	A	1	1
MYH13	8735	broad.mit.edu	36	17	10164242	10164242	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10164242C>T	uc002gmk.1	-	c.3301G>A	c.(3301-3303)GAA>AAA	p.E1101K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1101	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.378378	37.338616	37.819637	14	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10164242	10164242	10427	17	C	T	T	31	31	MYH13	T	1	1
MYH13	8735	broad.mit.edu	36	17	10165573	10165573	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10165573C>T	uc002gmk.1	-	c.3111_splice	c.e24+1	p.D1037_splice		NM_003802	NP_003793			myosin, heavy polypeptide 13, skeletal muscle						muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.175532	57.148826	75.826268	33	155	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	10165573	10165573	10427	17	C	T	T	17	17	MYH13	T	5	2
MYH13	8735	broad.mit.edu	36	17	10174504	10174504	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10174504G>A	uc002gmk.1	-	c.2360C>T	c.(2359-2361)ACG>ATG	p.T787M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	787	IQ.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.222222	27.010766	31.490781	14	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10174504	10174504	10427	17	G	A	A	40	40	MYH13	A	1	1
MYH13	8735	broad.mit.edu	36	17	10176184	10176184	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10176184G>A	uc002gmk.1	-	c.2255C>T	c.(2254-2256)TCC>TTC	p.S752F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	752	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.199134	94.860548	114.288811	46	185	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10176184	10176184	10427	17	G	A	A	41	41	MYH13	A	2	2
MYH13	8735	broad.mit.edu	36	17	10208477	10208477	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10208477G>A	uc002gmk.1	-	c.96C>T	c.(94-96)TTC>TTT	p.F32F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	32	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.290909	38.273788	40.430822	16	39	GG		KEEP	---	---	---	---	capture			Silent	SNP	10208477	10208477	10427	17	G	A	A	37	37	MYH13	A	1	1
MYH8	4626	broad.mit.edu	36	17	10235960	10235960	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10235960C>T	uc002gmm.2	-	c.5628G>A	c.(5626-5628)GCG>GCA	p.A1876A		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1876	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.173397	130.303567	172.723762	73	348	CC		KEEP	---	---	---	---	capture			Silent	SNP	10235960	10235960	10436	17	C	T	T	31	31	MYH8	T	1	1
MYH8	4626	broad.mit.edu	36	17	10240618	10240618	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10240618C>A	uc002gmm.2	-	c.4505G>T	c.(4504-4506)AGA>ATA	p.R1502I		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1502	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.186813	27.809655	36.186618	17	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10240618	10240618	10436	17	C	A	A	32	32	MYH8	A	3	3
MYH8	4626	broad.mit.edu	36	17	10254878	10254878	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10254878C>T	uc002gmm.2	-	c.1528G>A	c.(1528-1530)GAG>AAG	p.E510K		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	510	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.46085	581.068614	581.66724	206	241	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10254878	10254878	10436	17	C	T	T	31	31	MYH8	T	1	1
MYH8	4626	broad.mit.edu	36	17	10256438	10256438	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10256438C>T	uc002gmm.2	-	c.1390G>A	c.(1390-1392)GAC>AAC	p.D464N		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	464	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.17552	135.23879	178.238042	76	357	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10256438	10256438	10436	17	C	T	T	30	30	MYH8	T	2	2
MYH4	4622	broad.mit.edu	36	17	10299238	10299238	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10299238G>A	uc002gmn.1	-	c.2274C>T	c.(2272-2274)ACC>ACT	p.T758T		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	758	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.436019	284.068997	284.82207	92	119	GG		KEEP	---	---	---	---	capture			Silent	SNP	10299238	10299238	10432	17	G	A	A	43	43	MYH4	A	2	2
MYH1	4619	broad.mit.edu	36	17	10346832	10346832	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10346832T>G	uc002gmo.1	-	c.3059A>C	c.(3058-3060)AAA>ACA	p.K1020T		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1020	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.443503	532.172887	533.149051	157	197	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10346832	10346832	10424	17	T	G	G	64	64	MYH1	G	4	4
MYH1	4619	broad.mit.edu	36	17	10349023	10349023	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10349023G>A	uc002gmo.1	-	c.2520C>T	c.(2518-2520)ATC>ATT	p.I840I		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	840						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.205128	95.853639	114.743998	48	186	GG		KEEP	---	---	---	---	capture			Silent	SNP	10349023	10349023	10424	17	G	A	A	45	45	MYH1	A	2	2
MYH1	4619	broad.mit.edu	36	17	10352438	10352438	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10352438G>T	uc002gmo.1	-	c.1864C>A	c.(1864-1866)CTC>ATC	p.L622I		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	622	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.42735	261.231754	262.31451	100	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10352438	10352438	10424	17	G	T	T	33	33	MYH1	T	3	3
MYH2	4620	broad.mit.edu	36	17	10367415	10367415	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10367415G>A	uc010coi.1	-	c.5512C>T	c.(5512-5514)CGT>TGT	p.R1838C	MYH2_uc002gmp.2_Missense_Mutation_p.R1838C|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1838	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)|lung(1)|kidney(1)	11														0.441048	274.625718	275.321281	101	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10367415	10367415	10430	17	G	A	A	38	38	MYH2	A	1	1
MYH2	4620	broad.mit.edu	36	17	10368572	10368572	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10368572C>A	uc010coi.1	-	c.5111G>T	c.(5110-5112)AGC>ATC	p.S1704I	MYH2_uc002gmp.2_Missense_Mutation_p.S1704I|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1704	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)|lung(1)|kidney(1)	11														0.225589	139.160405	159.721939	67	230	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10368572	10368572	10430	17	C	A	A	28	28	MYH2	A	3	3
MYH2	4620	broad.mit.edu	36	17	10369845	10369845	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10369845C>T	uc010coi.1	-	c.4261G>A	c.(4261-4263)GAA>AAA	p.E1421K	MYH2_uc002gmp.2_Missense_Mutation_p.E1421K|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1421	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)|lung(1)|kidney(1)	11														0.455446	259.574798	259.923559	92	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10369845	10369845	10430	17	C	T	T	31	31	MYH2	T	1	1
MYH2	4620	broad.mit.edu	36	17	10371841	10371841	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10371841G>A	uc010coi.1	-	c.3820C>T	c.(3820-3822)CGG>TGG	p.R1274W	MYH2_uc002gmp.2_Missense_Mutation_p.R1274W|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1274	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)|lung(1)|kidney(1)	11														0.194245	99.787363	124.044807	54	224	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10371841	10371841	10430	17	G	A	A	38	38	MYH2	A	1	1
MYH2	4620	broad.mit.edu	36	17	10372916	10372916	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10372916G>A	uc010coi.1	-	c.3560C>T	c.(3559-3561)GCC>GTC	p.A1187V	MYH2_uc002gmp.2_Missense_Mutation_p.A1187V|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1187	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)|lung(1)|kidney(1)	11														0.240506	156.414865	175.811187	76	240	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10372916	10372916	10430	17	G	A	A	42	42	MYH2	A	2	2
MYH2	4620	broad.mit.edu	36	17	10381803	10381803	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10381803G>A	uc010coi.1	-	c.1491C>T	c.(1489-1491)TTC>TTT	p.F497F	MYH2_uc002gmp.2_Silent_p.F497F|MYH2_uc010coj.1_Silent_p.F497F	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	497	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.498638	527.09941	527.100041	183	184	GG		KEEP	---	---	---	---	capture			Silent	SNP	10381803	10381803	10430	17	G	A	A	37	37	MYH2	A	1	1
MYH3	4621	broad.mit.edu	36	17	10479568	10479568	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10479568C>T	uc002gmq.1	-	c.4013G>A	c.(4012-4014)CGC>CAC	p.R1338H		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1338	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(1)|pancreas(1)	6														0.18	91.375067	120.276598	54	246	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10479568	10479568	10431	17	C	T	T	27	27	MYH3	T	1	1
MYH3	4621	broad.mit.edu	36	17	10482094	10482094	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10482094C>T	uc002gmq.1	-	c.3720G>A	c.(3718-3720)TCG>TCA	p.S1240S		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1240	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(1)|pancreas(1)	6														0.457143	360.153148	360.601845	128	152	CC		KEEP	---	---	---	---	capture			Silent	SNP	10482094	10482094	10431	17	C	T	T	31	31	MYH3	T	1	1
MYH3	4621	broad.mit.edu	36	17	10486927	10486927	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10486927C>T	uc002gmq.1	-	c.1522G>A	c.(1522-1524)GAG>AAG	p.E508K		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	508	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.216138	155.628937	181.438194	75	272	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10486927	10486927	10431	17	C	T	T	31	31	MYH3	T	1	1
C17orf48	56985	broad.mit.edu	36	17	10549219	10549219	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10549219A>C	uc002gmt.1	+	c.251A>C	c.(250-252)AAT>ACT	p.N84T	C17orf48_uc010cok.1_Missense_Mutation_p.N84T|C17orf48_uc002gmu.1_Non-coding_Transcript|C17orf48_uc002gmv.1_Non-coding_Transcript	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	hypothetical protein LOC56985	84							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0														0.244681	199.455376	216.187891	69	213	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10549219	10549219	1915	17	A	C	C	4	4	C17orf48	C	4	4
DNAH9	1770	broad.mit.edu	36	17	11455759	11455759	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11455759C>A	uc002gne.1	+	c.841C>A	c.(841-843)CTG>ATG	p.L281M	DNAH9_uc002gnd.1_Missense_Mutation_p.L281M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	281	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			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.430939	211.806433	212.561713	78	103	CC		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Missense_Mutation	SNP	11455759	11455759	4791	17	C	A	A	24	24	DNAH9	A	3	3
DNAH9	1770	broad.mit.edu	36	17	11533893	11533893	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11533893C>T	uc002gne.1	+	c.4029C>T	c.(4027-4029)ATC>ATT	p.I1343I	DNAH9_uc010coo.1_Silent_p.I637I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1343	Potential.|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			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.22807	29.142662	33.012107	13	44	CC		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Silent	SNP	11533893	11533893	4791	17	C	T	T	30	30	DNAH9	T	2	2
DNAH9	1770	broad.mit.edu	36	17	11588847	11588847	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11588847C>T	uc002gne.1	+	c.6120C>T	c.(6118-6120)TAC>TAT	p.Y2040Y	DNAH9_uc010coo.1_Silent_p.Y1334Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2040	AAA 1 (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			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.157534	34.733348	51.069172	23	123	CC		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Silent	SNP	11588847	11588847	4791	17	C	T	T	19	19	DNAH9	T	1	1
DNAH9	1770	broad.mit.edu	36	17	11589081	11589081	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11589081G>A	uc002gne.1	+	c.6354G>A	c.(6352-6354)GCG>GCA	p.A2118A	DNAH9_uc010coo.1_Silent_p.A1412A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2118	AAA 2 (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			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.259259	97.993496	106.486821	42	120	GG		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Silent	SNP	11589081	11589081	4791	17	G	A	A	37	37	DNAH9	A	1	1
DNAH9	1770	broad.mit.edu	36	17	11607616	11607616	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11607616C>T	uc002gne.1	+	c.7130C>T	c.(7129-7131)GCT>GTT	p.A2377V	DNAH9_uc010coo.1_Missense_Mutation_p.A1671V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2377					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.540741	229.972937	230.166623	73	62	CC		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Missense_Mutation	SNP	11607616	11607616	4791	17	C	T	T	28	28	DNAH9	T	2	2
DNAH9	1770	broad.mit.edu	36	17	11612635	11612635	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11612635C>T	uc002gne.1	+	c.7311C>T	c.(7309-7311)CCC>CCT	p.P2437P	DNAH9_uc010coo.1_Silent_p.P1731P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2437					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.185897	60.389261	74.809787	29	127	CC		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Silent	SNP	11612635	11612635	4791	17	C	T	T	22	22	DNAH9	T	2	2
DNAH9	1770	broad.mit.edu	36	17	11641828	11641828	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11641828C>T	uc002gne.1	+	c.8413C>T	c.(8413-8415)CGC>TGC	p.R2805C	DNAH9_uc010coo.1_Missense_Mutation_p.R2099C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2805	AAA 4 (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			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.42268	114.16075	114.665786	41	56	CC		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Missense_Mutation	SNP	11641828	11641828	4791	17	C	T	T	27	27	DNAH9	T	1	1
DNAH9	1770	broad.mit.edu	36	17	11698395	11698395	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11698395C>T	uc002gne.1	+	c.9858C>T	c.(9856-9858)CGC>CGT	p.R3286R	DNAH9_uc010coo.1_Silent_p.R2580R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3286	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			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.412214	306.335794	308.102295	108	154	CC		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Silent	SNP	11698395	11698395	4791	17	C	T	T	26	26	DNAH9	T	2	2
DNAH9	1770	broad.mit.edu	36	17	11727631	11727631	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11727631G>A	uc002gne.1	+	c.10810G>A	c.(10810-10812)GAT>AAT	p.D3604N	DNAH9_uc010coo.1_Missense_Mutation_p.D2898N|DNAH9_uc002gnf.1_5'UTR	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3604	AAA 5 (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			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.393443	196.856857	198.676386	72	111	GG		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Missense_Mutation	SNP	11727631	11727631	4791	17	G	A	A	37	37	DNAH9	A	1	1
DNAH9	1770	broad.mit.edu	36	17	11749851	11749851	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11749851G>A	uc002gne.1	+	c.11749G>A	c.(11749-11751)GGA>AGA	p.G3917R	DNAH9_uc010coo.1_Missense_Mutation_p.G3211R|DNAH9_uc002gnf.1_Missense_Mutation_p.G229R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3917	AAA 6 (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			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.409639	105.132153	105.724588	34	49	GG		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Missense_Mutation	SNP	11749851	11749851	4791	17	G	A	A	35	35	DNAH9	A	2	2
DNAH9	1770	broad.mit.edu	36	17	11778021	11778021	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11778021G>T	uc002gne.1	+	c.12397G>T	c.(12397-12399)GAA>TAA	p.E4133*	DNAH9_uc010coo.1_Nonsense_Mutation_p.E3351*|DNAH9_uc002gnf.1_Nonsense_Mutation_p.E445*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4133					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.199029	71.740961	89.130212	41	165	GG		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Nonsense_Mutation	SNP	11778021	11778021	4791	17	G	T	T	41	41	DNAH9	T	5	3
ZNF18	7566	broad.mit.edu	36	17	11836685	11836685	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11836685G>A	uc002gng.1	-	c.187C>T	c.(187-189)CGG>TGG	p.R63W	ZNF18_uc002gnh.1_Missense_Mutation_p.R63W|ZNF18_uc002gni.1_Missense_Mutation_p.R63W	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	63	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1														0.223464	85.507411	98.093883	40	139	GG		KEEP	---	---	---	---	capture		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	Missense_Mutation	SNP	11836685	11836685	18338	17	G	A	A	37	37	ZNF18	A	1	1
YWHAE	7531	broad.mit.edu	36	17	1214920	1214920	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1214920G>A	uc002fsj.1	-	c.247C>T	c.(247-249)CGG>TGG	p.R83W	YWHAE_uc002fsk.1_Missense_Mutation_p.R61W	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	83					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			ovary(1)	1														0.445916	573.086733	574.240486	202	251	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	Missense_Mutation	SNP	1214920	1214920	18085	17	G	A	A	37	37	YWHAE	A	1	1
MYOCD	93649	broad.mit.edu	36	17	12590084	12590084	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:12590084C>T	uc002gno.1	+	c.1095C>T	c.(1093-1095)GGC>GGT	p.G365G	MYOCD_uc002gnn.1_Silent_p.G365G|MYOCD_uc002gnp.1_Silent_p.G269G|MYOCD_uc002gnq.1_Silent_p.G84G	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin	365					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3														0.198142	127.51977	154.922775	64	259	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	Silent	SNP	12590084	12590084	10482	17	C	T	T	26	26	MYOCD	T	2	2
MYOCD	93649	broad.mit.edu	36	17	12596587	12596587	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:12596587G>A	uc002gno.1	+	c.1257G>A	c.(1255-1257)ACG>ACA	p.T419T	MYOCD_uc002gnn.1_Silent_p.T419T|MYOCD_uc002gnp.1_Silent_p.T323T|MYOCD_uc002gnq.1_Silent_p.T138T	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin	419					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3														0.183594	82.773568	106.836546	47	209	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	Silent	SNP	12596587	12596587	10482	17	G	A	A	37	37	MYOCD	A	1	1
CRK	1398	broad.mit.edu	36	17	1286883	1286883	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1286883G>A	uc002fsl.1	-	c.558C>T	c.(556-558)TAC>TAT	p.Y186Y	CRK_uc002fsm.1_Silent_p.Y186Y	NM_016823	NP_058431	P46108	CRK_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	186	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)	1														0.228571	96.93844	111.114858	48	162	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	Silent	SNP	1286883	1286883	4023	17	G	A	A	40	40	CRK	A	1	1
RPH3AL	9501	broad.mit.edu	36	17	131561	131561	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:131561C>A	uc002frd.1	-	c.436G>T	c.(436-438)GAG>TAG	p.E146*	RPH3AL_uc002fre.1_Nonsense_Mutation_p.E146*|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	146	RabBD.|FYVE-type.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding				0														0.429577	155.904965	156.527136	61	81	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)	Nonsense_Mutation	SNP	131561	131561	14031	17	C	A	A	32	32	RPH3AL	A	5	3
MYO1C	4641	broad.mit.edu	36	17	1322228	1322228	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1322228G>A	uc002fsp.1	-	c.1842C>T	c.(1840-1842)ATC>ATT	p.I614I	MYO1C_uc002fsn.1_Silent_p.I595I|MYO1C_uc002fso.1_Silent_p.I579I	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	myosin IC isoform a	614	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0														0.186667	50.190403	63.932418	28	122	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Silent	SNP	1322228	1322228	10465	17	G	A	A	41	41	MYO1C	A	2	2
HS3ST3A1	9955	broad.mit.edu	36	17	13444643	13444643	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:13444643C>A	uc002gob.1	-	c.529G>T	c.(529-531)GAC>TAC	p.D177Y		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	177	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)												0.192308	8.158884	10.460716	5	21	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	Missense_Mutation	SNP	13444643	13444643	7659	17	C	A	A	31	31	HS3ST3A1	A	3	3
PITPNA	5306	broad.mit.edu	36	17	1403064	1403064	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1403064T>C	uc002fst.2	-	c.181A>G	c.(181-183)ATC>GTC	p.I61V	PITPNA_uc010cjt.1_5'UTR|PITPNA_uc010cju.1_5'UTR	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	61					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			ovary(1)	1														0.171254	118.419643	151.817408	56	271	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	Missense_Mutation	SNP	1403064	1403064	12371	17	T	C	C	50	50	PITPNA	C	4	4
SCARF1	8578	broad.mit.edu	36	17	1495222	1495222	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1495222G>A	uc002fsz.1	-	c.163C>T	c.(163-165)CCC>TCC	p.P55S	SCARF1_uc002fsy.1_Missense_Mutation_p.P55S|SCARF1_uc002fta.1_Missense_Mutation_p.P55S|SCARF1_uc002ftb.1_Missense_Mutation_p.P55S|SCARF1_uc010cjv.1_Missense_Mutation_p.P55S	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	55	EGF-like 1.|Extracellular (Potential).				cell adhesion|cholesterol catabolic process|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity				0														0.337838	65.054541	66.774303	25	49	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Missense_Mutation	SNP	1495222	1495222	14364	17	G	A	A	39	39	SCARF1	A	1	1
RILP	83547	broad.mit.edu	36	17	1496515	1496515	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1496515G>T	uc002ftd.1	-	c.1177C>A	c.(1177-1179)CTG>ATG	p.L393M	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc002ftb.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	393					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1														0.211321	104.333758	124.781479	56	209	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Missense_Mutation	SNP	1496515	1496515	13835	17	G	T	T	33	33	RILP	T	3	3
PRPF8	10594	broad.mit.edu	36	17	1511337	1511337	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1511337C>T	uc002fte.1	-	c.4316G>A	c.(4315-4317)AGA>AAA	p.R1439K		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1439					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			ovary(2)|lung(1)	3														0.397297	419.920457	423.342762	147	223	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	Missense_Mutation	SNP	1511337	1511337	13018	17	C	T	T	32	32	PRPF8	T	2	2
TEKT3	64518	broad.mit.edu	36	17	15175232	15175232	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:15175232A>G	uc002gom.1	-	c.396T>C	c.(394-396)TAT>TAC	p.Y132Y	TEKT3_uc002gon.1_Silent_p.Y132Y	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	132					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2														0.45961	523.968362	524.472575	165	194	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	Silent	SNP	15175232	15175232	16281	17	A	G	G	12	12	TEKT3	G	4	4
PRPF8	10594	broad.mit.edu	36	17	1523901	1523901	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1523901C>T	uc002fte.1	-	c.3335G>A	c.(3334-3336)CGT>CAT	p.R1112H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1112					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			ovary(2)|lung(1)	3														0.203846	98.144083	119.311293	53	207	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	Missense_Mutation	SNP	1523901	1523901	13018	17	C	T	T	19	19	PRPF8	T	1	1
PRPF8	10594	broad.mit.edu	36	17	1527644	1527644	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1527644C>T	uc002fte.1	-	c.1949G>A	c.(1948-1950)CGA>CAA	p.R650Q		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	650					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			ovary(2)|lung(1)	3														0.481013	324.822434	324.897288	114	123	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	Missense_Mutation	SNP	1527644	1527644	13018	17	C	T	T	31	31	PRPF8	T	1	1
PRPF8	10594	broad.mit.edu	36	17	1532059	1532059	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1532059C>T	uc002fte.1	-	c.458G>A	c.(457-459)CGA>CAA	p.R153Q		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	153					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			ovary(2)|lung(1)	3														0.241935	65.070608	72.622979	30	94	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	Missense_Mutation	SNP	1532059	1532059	13018	17	C	T	T	31	31	PRPF8	T	1	1
PRPF8	10594	broad.mit.edu	36	17	1533623	1533623	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1533623C>A	uc002fte.1	-	c.223G>T	c.(223-225)GAC>TAC	p.D75Y		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	75					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			ovary(2)|lung(1)	3														0.165414	67.504326	95.802843	44	222	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	Missense_Mutation	SNP	1533623	1533623	13018	17	C	A	A	32	32	PRPF8	A	3	3
CDRT1	374286	broad.mit.edu	36	17	15433206	15433206	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:15433206G>A	uc002gov.2	-	c.2067C>T	c.(2065-2067)ATC>ATT	p.I689I	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	689											0														0.393701	273.94129	276.454249	100	154	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	Silent	SNP	15433206	15433206	3303	17	G	A	A	37	37	CDRT1	A	1	1
TRIM16	10626	broad.mit.edu	36	17	15442605	15442605	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:15442605C>T	uc002gor.1	-	c.2451G>A	c.(2449-2451)AGG>AGA	p.R817R	CDRT1_uc002gov.2_Silent_p.R507R|CDRT1_uc002gou.2_Silent_p.R115R|CDRT1_uc010cos.1_Silent_p.R7R			O95361	TRI16_HUMAN	Putative uncharacterized protein (Fragment).	Error:Variant_position_missing_in_O95361_after_alignment					histone H3 acetylation|histone H4 acetylation|positive regulation of gene-specific transcription|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|transcription activator activity|zinc ion binding			ovary(2)|skin(1)	3														0.430108	112.980141	113.377264	40	53	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	Silent	SNP	15442605	15442605	17035	17	C	T	T	26	26	TRIM16	T	2	2
TRIM16	10626	broad.mit.edu	36	17	15472799	15472799	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:15472799G>T	uc002gox.1	-	c.1550C>A	c.(1549-1551)ACT>AAT	p.T517N	TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.1_Missense_Mutation_p.T301N|TRIM16_uc002goy.1_Missense_Mutation_p.T387N	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	517	B30.2/SPRY.				histone H3 acetylation|histone H4 acetylation|positive regulation of gene-specific transcription|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|transcription activator activity|zinc ion binding			ovary(2)|skin(1)	3														0.462555	299.133526	299.412346	105	122	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	Missense_Mutation	SNP	15472799	15472799	17035	17	G	T	T	36	36	TRIM16	T	3	3
TTC19	54902	broad.mit.edu	36	17	15850577	15850577	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:15850577G>A	uc002gph.1	+	c.1009G>A	c.(1009-1011)GAA>AAA	p.E337K	TTC19_uc010cox.1_Non-coding_Transcript	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	216					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding				0														0.15566	53.233499	77.247996	33	179	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	Missense_Mutation	SNP	15850577	15850577	17240	17	G	A	A	33	33	TTC19	A	2	2
NCOR1	9611	broad.mit.edu	36	17	15912117	15912117	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:15912117C>T	uc002gpo.1	-	c.4557G>A	c.(4555-4557)TCG>TCA	p.S1519S	NCOR1_uc002gpn.1_Silent_p.S1535S|NCOR1_uc002gpm.1_Silent_p.S40S|NCOR1_uc010coy.1_Silent_p.S427S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1519	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of JNK cascade|regulation of fatty acid transport|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	spindle microtubule|transcriptional repressor complex	histone deacetylase binding|promoter binding|transcription corepressor activity			ovary(1)|kidney(1)	2														0.394231	111.667521	112.680286	41	63	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	Silent	SNP	15912117	15912117	10634	17	C	T	T	31	31	NCOR1	T	1	1
NCOR1	9611	broad.mit.edu	36	17	15945737	15945737	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:15945737C>A	uc002gpo.1	-	c.2242G>T	c.(2242-2244)GAA>TAA	p.E748*	NCOR1_uc002gpn.1_Nonsense_Mutation_p.E764*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.E655*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.E655*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	748					cellular lipid metabolic process|chromatin modification|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of JNK cascade|regulation of fatty acid transport|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	spindle microtubule|transcriptional repressor complex	histone deacetylase binding|promoter binding|transcription corepressor activity			ovary(1)|kidney(1)	2														0.439815	255.471216	256.156624	95	121	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	Nonsense_Mutation	SNP	15945737	15945737	10634	17	C	A	A	32	32	NCOR1	A	5	3
NCOR1	9611	broad.mit.edu	36	17	16016020	16016020	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16016020C>A	uc002gpo.1	-	c.257G>T	c.(256-258)AGA>ATA	p.R86I	NCOR1_uc002gpn.1_Missense_Mutation_p.R86I|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.R86I|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpa.1_Missense_Mutation_p.R86I|NCOR1_uc010cpb.1_Missense_Mutation_p.R86I|NCOR1_uc002gpu.2_Missense_Mutation_p.R86I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	86	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of JNK cascade|regulation of fatty acid transport|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	spindle microtubule|transcriptional repressor complex	histone deacetylase binding|promoter binding|transcription corepressor activity			ovary(1)|kidney(1)	2														0.22549	47.366378	54.432714	23	79	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	Missense_Mutation	SNP	16016020	16016020	10634	17	C	A	A	32	32	NCOR1	A	3	3
UBB	7314	broad.mit.edu	36	17	16225955	16225955	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16225955C>A	uc002gpx.1	+	c.9C>A	c.(7-9)ATC>ATA	p.I3I	UBB_uc010cpc.1_Silent_p.I3I	NM_018955	NP_061828	P0CG47	UBB_HUMAN	ubiquitin B precursor	3	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding				0						Melanoma(163;1126 3406 34901)								0.191781	24.601714	31.087694	14	59	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	Silent	SNP	16225955	16225955	17398	17	C	A	A	32	32	UBB	A	3	3
UBB	7314	broad.mit.edu	36	17	16226420	16226420	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16226420G>T	uc002gpx.1	+	c.474G>T	c.(472-474)AAG>AAT	p.K158N	UBB_uc010cpc.1_Missense_Mutation_p.K158N	NM_018955	NP_061828	P0CG47	UBB_HUMAN	ubiquitin B precursor	158	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding				0						Melanoma(163;1126 3406 34901)								0.40625	200.066652	201.552541	78	114	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	Missense_Mutation	SNP	16226420	16226420	17398	17	G	T	T	33	33	UBB	T	3	3
SERPINF1	5176	broad.mit.edu	36	17	1626641	1626641	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1626641G>T	uc002ftl.1	+	c.852G>T	c.(850-852)CAG>CAT	p.Q284H	SERPINF1_uc010cjw.1_Missense_Mutation_p.Q97H	NM_002615	NP_002606	P36955	PEDF_HUMAN	serine (or cysteine) proteinase inhibitor, clade	284					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			ovary(1)	1														0.463529	529.564371	530.062281	197	228	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1626641	1626641	14602	17	G	T	T	33	33	SERPINF1	T	3	3
TRPV2	51393	broad.mit.edu	36	17	16266712	16266712	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16266712C>T	uc002gpy.1	+	c.409C>T	c.(409-411)CCA>TCA	p.P137S	TRPV2_uc002gpz.1_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	137	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 2.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1														0.192308	27.373096	34.279166	15	63	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	Missense_Mutation	SNP	16266712	16266712	17147	17	C	T	T	26	26	TRPV2	T	2	2
C17orf76	388341	broad.mit.edu	36	17	16288158	16288158	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16288158G>T	uc010cph.1	-	c.504C>A	c.(502-504)GTC>GTA	p.V168V	NCRNA00188_uc010cpe.1_Intron|C17orf76_uc002gqg.1_3'UTR|C17orf76_uc002gqh.2_Missense_Mutation_p.P83T	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN	hypothetical protein LOC388341 isoform 1	168											0														0.342105	31.559688	32.39851	13	25	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	Silent	SNP	16288158	16288158	1939	17	G	T	T	41	41	C17orf76	T	3	3
ZNF287	57336	broad.mit.edu	36	17	16396524	16396524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16396524G>A	uc002gqi.1	-	c.1636C>T	c.(1636-1638)CGA>TGA	p.R546*		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	546	C2H2-type 7.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.454545	343.072006	343.545995	120	144	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	Nonsense_Mutation	SNP	16396524	16396524	18417	17	G	A	A	37	37	ZNF287	A	5	1
ZNF624	57547	broad.mit.edu	36	17	16467500	16467500	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16467500G>A	uc010cpi.1	-	c.1425C>T	c.(1423-1425)AAC>AAT	p.N475N		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	475	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2						NSCLC(186;1023 2134 13330 38202 39800)								0.174545	76.538977	104.030647	48	227	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	Silent	SNP	16467500	16467500	18643	17	G	A	A	40	40	ZNF624	A	1	1
ZNF624	57547	broad.mit.edu	36	17	16467892	16467892	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16467892A>C	uc010cpi.1	-	c.1033T>G	c.(1033-1035)TCA>GCA	p.S345A		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	345	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2						NSCLC(186;1023 2134 13330 38202 39800)								0.21345	195.403195	221.329633	73	269	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	Missense_Mutation	SNP	16467892	16467892	18643	17	A	C	C	9	9	ZNF624	C	4	4
ZNF624	57547	broad.mit.edu	36	17	16477933	16477933	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16477933G>A	uc010cpi.1	-	c.344C>T	c.(343-345)ACG>ATG	p.T115M		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	115	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2						NSCLC(186;1023 2134 13330 38202 39800)								0.245033	82.096629	91.043664	37	114	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	Missense_Mutation	SNP	16477933	16477933	18643	17	G	A	A	40	40	ZNF624	A	1	1
CCDC144A	9720	broad.mit.edu	36	17	16534718	16534718	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16534718C>T	uc002gqk.1	+	c.279C>T	c.(277-279)GTC>GTT	p.V93V		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	93											0														0.211618	207.809797	244.988856	102	380	CC		KEEP	---	---	---	---	capture			Silent	SNP	16534718	16534718	2897	17	C	T	T	30	30	CCDC144A	T	2	2
CCDC144A	9720	broad.mit.edu	36	17	16553176	16553176	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16553176A>G	uc002gqk.1	+	c.1080A>G	c.(1078-1080)ACA>ACG	p.T360T	LOC162632_uc010cpj.1_5'Flank|CCDC144A_uc002gql.1_Intron	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	360											0														0.189873	57.967307	72.175499	30	128	AA		KEEP	---	---	---	---	capture			Silent	SNP	16553176	16553176	2897	17	A	G	G	8	8	CCDC144A	G	4	4
CCDC144A	9720	broad.mit.edu	36	17	16608183	16608183	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16608183C>A	uc002gqk.1	+	c.4067C>A	c.(4066-4068)GCT>GAT	p.A1356D	LOC162632_uc010cpj.1_Non-coding_Transcript|CCDC144A_uc002gql.1_Missense_Mutation_p.A872D	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1356											0														0.206897	23.763848	28.385981	12	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16608183	16608183	2897	17	C	A	A	28	28	CCDC144A	A	3	3
TNFRSF13B	23495	broad.mit.edu	36	17	16792857	16792857	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16792857C>T	uc002gqs.1	-	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	TNFRSF13B_uc002gqt.1_Missense_Mutation_p.R76Q	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	122	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2										172				0.417062	530.127604	532.660858	176	246	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16792857	16792857	16828	17	C	T	T	23	23	TNFRSF13B	T	1	1
MPRIP	23164	broad.mit.edu	36	17	16922095	16922095	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16922095C>T	uc002gqv.1	+	c.247C>T	c.(247-249)CGC>TGC	p.R83C	MPRIP_uc002gqu.1_Missense_Mutation_p.R83C	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	83	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding				0														0.446494	333.567185	334.236365	121	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16922095	16922095	10135	17	C	T	T	27	27	MPRIP	T	1	1
PEMT	10400	broad.mit.edu	36	17	17366390	17366390	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17366390G>A	uc002grl.1	-	c.249C>T	c.(247-249)TTC>TTT	p.F83F	PEMT_uc002grj.1_Silent_p.F46F|PEMT_uc002grk.1_Silent_p.F46F	NM_148172	NP_680478	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	46	Helical; (Potential).				cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity				0														0.162162	17.590679	25.60255	12	62	GG		KEEP	---	---	---	---	capture		Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)	Silent	SNP	17366390	17366390	12147	17	G	A	A	37	37	PEMT	A	1	1
RAI1	10743	broad.mit.edu	36	17	17640304	17640304	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17640304C>T	uc002grm.1	+	c.3317C>T	c.(3316-3318)GCC>GTC	p.A1106V	RAI1_uc002grn.1_Missense_Mutation_p.A1106V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1106						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1														0.357143	49.494453	50.496425	20	36	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(1115;0.0276)	Missense_Mutation	SNP	17640304	17640304	13467	17	C	T	T	26	26	RAI1	T	2	2
RAI1	10743	broad.mit.edu	36	17	17653479	17653479	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17653479G>A	uc002grm.1	+	c.5709_splice	c.e5+1	p.K1903_splice		NM_030665	NP_109590			retinoic acid induced 1							cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1														0.200637	120.541964	146.717808	63	251	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(1115;0.0276)	Splice_Site_SNP	SNP	17653479	17653479	13467	17	G	A	A	44	44	RAI1	A	5	2
SREBF1	6720	broad.mit.edu	36	17	17657434	17657434	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17657434G>A	uc002grt.1	-	c.3277C>T	c.(3277-3279)CGG>TGG	p.R1093W	SREBF1_uc002grp.1_Missense_Mutation_p.R682W|SREBF1_uc002grq.1_Missense_Mutation_p.R582W|SREBF1_uc002grr.1_Missense_Mutation_p.R809W|SREBF1_uc002grs.1_Missense_Mutation_p.R1039W|SREBF1_uc002gru.1_Missense_Mutation_p.R1063W	NM_001005291	NP_001005291	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	1063	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|sterol response element binding				0														0.25641	21.732658	23.831243	10	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17657434	17657434	15655	17	G	A	A	38	38	SREBF1	A	1	1
LRRC48	83450	broad.mit.edu	36	17	17848449	17848449	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17848449G>T	uc002gsb.1	+	c.1047G>T	c.(1045-1047)AAG>AAT	p.K349N	LRRC48_uc002gsc.2_Non-coding_Transcript	NM_031294	NP_112584	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	349						cytoplasm				pancreas(1)	1	all_neural(463;0.228)													0.147059	6.650228	10.722548	5	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17848449	17848449	9380	17	G	T	T	33	33	LRRC48	T	3	3
ATPAF2	91647	broad.mit.edu	36	17	17870369	17870369	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17870369G>A	uc002gse.1	-	c.411C>T	c.(409-411)ACC>ACT	p.T137T	ATPAF2_uc002gsd.1_Non-coding_Transcript|ATPAF2_uc002gsf.1_Non-coding_Transcript|ATPAF2_uc010cps.1_Non-coding_Transcript	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	137					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)													0.211207	100.974181	118.853829	49	183	GG		KEEP	---	---	---	---	capture			Silent	SNP	17870369	17870369	1220	17	G	A	A	39	39	ATPAF2	A	1	1
MYO15A	51168	broad.mit.edu	36	17	17963932	17963932	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17963932G>A	uc010cpt.1	+	c.1093G>A	c.(1093-1095)GAT>AAT	p.D365N	MYO15A_uc010cpu.1_Missense_Mutation_p.D365N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	365	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.419118	311.587207	313.14278	114	158	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17963932	17963932	10458	17	G	A	A	37	37	MYO15A	A	1	1
MYO15A	51168	broad.mit.edu	36	17	17977405	17977405	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17977405G>A	uc010cpt.1	+	c.4462G>A	c.(4462-4464)GTC>ATC	p.V1488I	MYO15A_uc010cpu.1_Missense_Mutation_p.V1488I	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1488	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.164706	21.000354	30.073834	14	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17977405	17977405	10458	17	G	A	A	40	40	MYO15A	A	1	1
MYO15A	51168	broad.mit.edu	36	17	17982254	17982254	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17982254G>A	uc010cpt.1	+	c.4976G>A	c.(4975-4977)CGG>CAG	p.R1659Q	MYO15A_uc010cpu.1_Missense_Mutation_p.R1659Q	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1659	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.214286	86.214052	98.873932	36	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17982254	17982254	10458	17	G	A	A	39	39	MYO15A	A	1	1
MYO15A	51168	broad.mit.edu	36	17	17989961	17989961	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17989961C>A	uc010cpt.1	+	c.6324C>A	c.(6322-6324)ATC>ATA	p.I2108I	MYO15A_uc010cpu.1_Silent_p.I2108I	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2108	Tail.|MyTH4 1.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.232323	44.961404	51.470814	23	76	CC		KEEP	---	---	---	---	capture			Silent	SNP	17989961	17989961	10458	17	C	A	A	32	32	MYO15A	A	3	3
MYO15A	51168	broad.mit.edu	36	17	17994499	17994499	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17994499G>A	uc010cpt.1	+	c.7244G>A	c.(7243-7245)CGC>CAC	p.R2415H	MYO15A_uc010cpu.1_Missense_Mutation_p.R2415H	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2415	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.199153	87.184072	107.074845	47	189	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17994499	17994499	10458	17	G	A	A	38	38	MYO15A	A	1	1
MYO15A	51168	broad.mit.edu	36	17	18010542	18010542	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18010542G>A	uc010cpt.1	+	c.9930G>A	c.(9928-9930)GTG>GTA	p.V3310V	MYO15A_uc010cpu.1_Silent_p.V3310V|MYO15A_uc002gsl.1_Silent_p.V317V|MYO15A_uc010cpv.1_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3310	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.443182	212.001931	212.500275	78	98	GG		KEEP	---	---	---	---	capture			Silent	SNP	18010542	18010542	10458	17	G	A	A	45	45	MYO15A	A	2	2
MYO15A	51168	broad.mit.edu	36	17	18017863	18017863	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18017863G>A	uc010cpt.1	+	c.10394G>A	c.(10393-10395)CGG>CAG	p.R3465Q	MYO15A_uc010cpu.1_Missense_Mutation_p.R3465Q|MYO15A_uc002gsl.1_Silent_p.A497A|MYO15A_uc010cpv.1_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3465	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.169697	54.802645	71.834562	28	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18017863	18017863	10458	17	G	A	A	39	39	MYO15A	A	1	1
ALKBH5	54890	broad.mit.edu	36	17	18028616	18028616	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18028616T>C	uc010cpw.1	+	c.334T>C	c.(334-336)TCC>CCC	p.S112P	ALKBH5_uc010cpx.1_5'Flank	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5	112	Potential.				oxidation-reduction process	integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_neural(463;0.228)					Ovarian(166;154 1953 40235 46283 46309)								0.15122	56.536715	80.396862	31	174	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18028616	18028616	533	17	T	C	C	58	58	ALKBH5	C	4	4
LLGL1	3996	broad.mit.edu	36	17	18082213	18082213	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18082213G>A	uc002gsp.1	+	c.2012G>A	c.(2011-2013)CGT>CAT	p.R671H		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	671					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|ovary(1)|skin(1)	4	all_neural(463;0.228)													0.233766	38.710082	43.706588	18	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18082213	18082213	9162	17	G	A	A	40	40	LLGL1	A	1	1
FLII	2314	broad.mit.edu	36	17	18090823	18090823	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18090823T>C	uc002gsr.1	-	c.2861A>G	c.(2860-2862)GAC>GGC	p.D954G	FLII_uc002gsq.1_Missense_Mutation_p.D825G|FLII_uc010cpy.1_Missense_Mutation_p.D943G|FLII_uc002gss.1_Missense_Mutation_p.D953G	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	954	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)	1	all_neural(463;0.228)													0.39604	117.461981	118.420873	40	61	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18090823	18090823	6163	17	T	C	C	58	58	FLII	C	4	4
TOP3A	7156	broad.mit.edu	36	17	18122303	18122303	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18122303C>A	uc002gsx.1	-	c.2238G>T	c.(2236-2238)GAG>GAT	p.E746D	TOP3A_uc010cpz.1_Missense_Mutation_p.E198D|TOP3A_uc002gsw.1_Missense_Mutation_p.E198D	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	746					DNA topological change|DNA unwinding involved in replication|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(2)	2														0.457143	162.648883	162.875893	64	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18122303	18122303	16909	17	C	A	A	32	32	TOP3A	A	3	3
CCDC144B	284047	broad.mit.edu	36	17	18469438	18469438	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18469438C>T	uc002gub.1	-	c.48G>A	c.(46-48)CCG>CCA	p.P16P	CCDC144B_uc002gua.2_Non-coding_Transcript|CCDC144B_uc002guc.1_Silent_p.P16P	NM_182568	NP_872374			coiled-coil domain containing 144B											ovary(1)|skin(1)	2														0.164179	16.081521	23.266337	11	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	18469438	18469438	2898	17	C	T	T	31	31	CCDC144B	T	1	1
TBC1D28	254272	broad.mit.edu	36	17	18480632	18480632	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18480632C>T	uc002gud.2	-	c.501G>A	c.(499-501)CAG>CAA	p.Q167Q		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	167	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)	1														0.39404	348.146736	351.119047	119	183	CC		KEEP	---	---	---	---	capture			Silent	SNP	18480632	18480632	16139	17	C	T	T	28	28	TBC1D28	T	2	2
FBXW10	10517	broad.mit.edu	36	17	18602520	18602520	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18602520C>T	uc002gul.1	+	c.1497C>T	c.(1495-1497)AGC>AGT	p.S499S	FBXW10_uc002guk.2_Silent_p.S470S|FBXW10_uc010cqh.1_Silent_p.S470S|FBXW10_uc002guj.1_Silent_p.S470S|FBXW10_uc010cqi.1_Non-coding_Transcript	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	470	WD 3.									ovary(1)	1														0.15	27.871714	41.966747	18	102	CC		KEEP	---	---	---	---	capture			Silent	SNP	18602520	18602520	6000	17	C	T	T	27	27	FBXW10	T	1	1
FAM83G	644815	broad.mit.edu	36	17	18815454	18815454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18815454C>T	uc002guw.1	-	c.2415G>A	c.(2413-2415)TGG>TGA	p.W805*	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002guv.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	805										ovary(1)	1														0.493827	366.190308	366.198334	120	123	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	18815454	18815454	5865	17	C	T	T	22	22	FAM83G	T	5	2
FAM83G	644815	broad.mit.edu	36	17	18822741	18822741	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18822741C>T	uc002guw.1	-	c.963G>A	c.(961-963)CCG>CCA	p.P321P	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002guv.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	321										ovary(1)	1														0.179272	120.817673	155.349369	64	293	CC		KEEP	---	---	---	---	capture			Silent	SNP	18822741	18822741	5865	17	C	T	T	23	23	FAM83G	T	1	1
MAPK7	5598	broad.mit.edu	36	17	19226820	19226820	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19226820C>T	uc002gvn.1	+	c.2265C>T	c.(2263-2265)TTC>TTT	p.F755F	MAPK7_uc002gvo.1_Silent_p.F616F|MAPK7_uc002gvp.1_Silent_p.F755F|MAPK7_uc002gvq.1_Silent_p.F755F	NM_139033	NP_620601	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	755	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				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(3)|lung(1)|skin(1)	5	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)									176				0.487973	406.731869	406.768365	142	149	CC		KEEP	---	---	---	---	capture			Silent	SNP	19226820	19226820	9665	17	C	T	T	31	31	MAPK7	T	1	1
RNF112	7732	broad.mit.edu	36	17	19256431	19256431	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19256431G>A	uc002gvu.1	+	c.123G>A	c.(121-123)GAG>GAA	p.E41E	RNF112_uc010cqo.1_Silent_p.E41E|RNF112_uc002gvv.1_5'UTR	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	41							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2														0.378788	70.251153	71.104529	25	41	GG		KEEP	---	---	---	---	capture			Silent	SNP	19256431	19256431	13903	17	G	A	A	34	34	RNF112	A	2	2
SLC47A2	146802	broad.mit.edu	36	17	19525524	19525524	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19525524C>T	uc002gwe.2	-	c.1324G>A	c.(1324-1326)GCT>ACT	p.A442T	SLC47A2_uc002gwg.2_Missense_Mutation_p.A406T|SLC47A2_uc002gwf.2_Missense_Mutation_p.A420T|SLC47A2_uc002gwh.2_Non-coding_Transcript|SLC47A2_uc002gwi.1_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	442	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)													0.385965	112.86463	114.166261	44	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19525524	19525524	15145	17	C	T	T	27	27	SLC47A2	T	1	1
ALDH3A1	218	broad.mit.edu	36	17	19585038	19585038	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19585038A>G	uc010cqu.1	-	c.767T>C	c.(766-768)ATC>ACC	p.I256T	ALDH3A1_uc002gwj.1_Missense_Mutation_p.I256T|ALDH3A1_uc010cqv.1_Missense_Mutation_p.I256T|ALDH3A1_uc002gwk.1_Missense_Mutation_p.I373T|ALDH3A1_uc002gwl.1_Missense_Mutation_p.I183T	NM_000691	NP_000682	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	256					cellular aldehyde metabolic process|oxidation-reduction process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)				NADH(DB00157)									0.503759	214.746199	214.74723	67	66	AA		KEEP	---	---	---	---	capture		Colorectal(15;0.0829)	Missense_Mutation	SNP	19585038	19585038	500	17	A	G	G	12	12	ALDH3A1	G	4	4
ULK2	9706	broad.mit.edu	36	17	19648611	19648611	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19648611G>T	uc002gwm.2	-	c.1282C>A	c.(1282-1284)CAT>AAT	p.H428N	ULK2_uc002gwn.1_Missense_Mutation_p.H428N	NM_014683	NP_055498	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	428					protein phosphorylation|signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)									475				0.135135	28.290304	47.395861	20	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19648611	19648611	17534	17	G	T	T	48	48	ULK2	T	3	3
ULK2	9706	broad.mit.edu	36	17	19690758	19690758	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19690758G>A	uc002gwm.2	-	c.353C>T	c.(352-354)GCC>GTC	p.A118V	ULK2_uc002gwn.1_Missense_Mutation_p.A118V	NM_014683	NP_055498	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	118	Protein kinase.				protein phosphorylation|signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)									475				0.247525	167.562767	185.151126	75	228	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19690758	19690758	17534	17	G	A	A	42	42	ULK2	A	2	2
AKAP10	11216	broad.mit.edu	36	17	19801957	19801957	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19801957G>A	uc002gwo.1	-	c.839C>T	c.(838-840)GCT>GTT	p.A280V	AKAP10_uc002gwp.1_Missense_Mutation_p.A280V|AKAP10_uc010cqw.1_Missense_Mutation_p.A280V	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	280	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)													0.210526	132.64974	154.739887	60	225	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19801957	19801957	449	17	G	A	A	34	34	AKAP10	A	2	2
AKAP10	11216	broad.mit.edu	36	17	19802107	19802107	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19802107T>C	uc002gwo.1	-	c.689A>G	c.(688-690)AAC>AGC	p.N230S	AKAP10_uc002gwp.1_Missense_Mutation_p.N230S|AKAP10_uc010cqw.1_Missense_Mutation_p.N230S	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	230	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)													0.5	285.005308	285.005308	80	80	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19802107	19802107	449	17	T	C	C	60	60	AKAP10	C	4	4
AKAP10	11216	broad.mit.edu	36	17	19802179	19802179	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19802179C>A	uc002gwo.1	-	c.617G>T	c.(616-618)AGA>ATA	p.R206I	AKAP10_uc002gwp.1_Missense_Mutation_p.R206I|AKAP10_uc010cqw.1_Missense_Mutation_p.R206I	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	206	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)													0.475248	132.181725	132.236256	48	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19802179	19802179	449	17	C	A	A	32	32	AKAP10	A	3	3
AKAP10	11216	broad.mit.edu	36	17	19802382	19802382	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19802382G>T	uc002gwo.1	-	c.414C>A	c.(412-414)TAC>TAA	p.Y138*	AKAP10_uc002gwp.1_Nonsense_Mutation_p.Y138*|AKAP10_uc010cqw.1_Nonsense_Mutation_p.Y138*	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	138	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)													0.189744	78.553775	96.114244	37	158	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19802382	19802382	449	17	G	T	T	36	36	AKAP10	T	5	3
USP22	23326	broad.mit.edu	36	17	20848112	20848112	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:20848112G>A	uc002gym.2	-	c.1530C>T	c.(1528-1530)AGC>AGT	p.S510S	USP22_uc002gyn.2_Silent_p.S498S|USP22_uc002gyl.2_Silent_p.S405S	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin specific protease 22	510					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding				0														0.150794	28.044428	42.769145	19	107	GG		KEEP	---	---	---	---	capture			Silent	SNP	20848112	20848112	17617	17	G	A	A	38	38	USP22	A	1	1
DHRS7B	25979	broad.mit.edu	36	17	21034982	21034982	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:21034982G>A	uc002gyo.1	+	c.902G>A	c.(901-903)CGA>CAA	p.R301Q		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	301	Peroxisomal (Potential).				oxidation-reduction process	integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1														0.397059	440.772684	444.551123	162	246	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21034982	21034982	4675	17	G	A	A	37	37	DHRS7B	A	1	1
SMG6	23293	broad.mit.edu	36	17	2150408	2150408	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2150408C>T	uc002fub.1	-	c.389G>A	c.(388-390)CGT>CAT	p.R130H	SMG6_uc002fud.1_Missense_Mutation_p.R99H	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	130	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytoplasm|nucleolus|telomerase holoenzyme complex	endonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						Melanoma(59;28 1088 11621 25887 46638 50814)								0.420842	570.73306	573.467369	210	289	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2150408	2150408	15295	17	C	T	T	19	19	SMG6	T	1	1
TSR1	55720	broad.mit.edu	36	17	2182214	2182214	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2182214G>A	uc002fuj.1	-	c.1495C>T	c.(1495-1497)CGA>TGA	p.R499*	SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	499					ribosome assembly	nucleolus	protein binding			ovary(1)	1														0.198113	83.406731	101.340269	42	170	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	2182214	2182214	17217	17	G	A	A	37	37	TSR1	A	5	1
TSR1	55720	broad.mit.edu	36	17	2184767	2184767	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2184767G>T	uc002fuj.1	-	c.730C>A	c.(730-732)CTT>ATT	p.L244I	SGSM2_uc002fum.2_5'Flank|SGSM2_uc002fun.2_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	244					ribosome assembly	nucleolus	protein binding			ovary(1)	1														0.461538	369.272033	369.661325	138	161	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2184767	2184767	17217	17	G	T	T	33	33	TSR1	T	3	3
TSR1	55720	broad.mit.edu	36	17	2185737	2185737	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2185737C>T	uc002fuj.1	-	c.239G>A	c.(238-240)GGC>GAC	p.G80D	SGSM2_uc002fum.2_5'Flank|SGSM2_uc002fun.2_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	80					ribosome assembly	nucleolus	protein binding			ovary(1)	1														0.13245	24.596876	44.332391	20	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2185737	2185737	17217	17	C	T	T	26	26	TSR1	T	2	2
SGSM2	9905	broad.mit.edu	36	17	2187769	2187769	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2187769C>T	uc002fum.2	+	c.37C>T	c.(37-39)CTG>TTG	p.L13L	SGSM2_uc002fun.2_Silent_p.L13L|TSR1_uc002fuj.1_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 1	13						intracellular	Rab GTPase activator activity				0														0.363636	11.096914	11.276905	4	7	CC		KEEP	---	---	---	---	capture		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	Silent	SNP	2187769	2187769	14714	17	C	T	T	28	28	SGSM2	T	2	2
SGSM2	9905	broad.mit.edu	36	17	2225630	2225630	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2225630C>T	uc002fum.2	+	c.2195C>T	c.(2194-2196)CCG>CTG	p.P732L	SGSM2_uc002fun.2_Missense_Mutation_p.P687L|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.1_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 1	687	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0														0.410628	243.790746	245.217763	85	122	CC		KEEP	---	---	---	---	capture		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	Missense_Mutation	SNP	2225630	2225630	14714	17	C	T	T	23	23	SGSM2	T	1	1
WSB1	26118	broad.mit.edu	36	17	22654737	22654737	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:22654737C>A	uc002gzd.1	+	c.427C>A	c.(427-429)CTT>ATT	p.L143I	WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_Non-coding_Transcript	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	143	WD 2.				intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)													0.462312	501.411826	501.908445	184	214	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Missense_Mutation	SNP	22654737	22654737	17978	17	C	A	A	32	32	WSB1	A	3	3
METT10D	79066	broad.mit.edu	36	17	2270846	2270846	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2270846G>A	uc002fut.1	-	c.991C>T	c.(991-993)CTG>TTG	p.L331L	METT10D_uc002fuu.2_Non-coding_Transcript|METT10D_uc010cka.1_Non-coding_Transcript|METT10D_uc002fuv.2_Intron	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	331							methyltransferase activity	p.L331V(1)			0														0.226644	305.692199	345.37213	131	447	GG		KEEP	---	---	---	---	capture			Silent	SNP	2270846	2270846	9879	17	G	A	A	33	33	METT10D	A	2	2
LGALS9	3965	broad.mit.edu	36	17	22991786	22991786	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:22991786C>T	uc002gzp.1	+	c.193C>T	c.(193-195)CGG>TGG	p.R65W	LGALS9_uc002gzq.1_Missense_Mutation_p.R65W|LGALS9_uc002gzr.1_Intron|LGALS9_uc002gzs.1_Missense_Mutation_p.R65W	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long	65	Galectin 1.	Beta-galactoside 1.			positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)								0.196429	104.182889	128.222123	55	225	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	Missense_Mutation	SNP	22991786	22991786	9074	17	C	T	T	31	31	LGALS9	T	1	1
METT10D	79066	broad.mit.edu	36	17	2327829	2327829	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2327829G>T	uc002fut.1	-	c.229C>A	c.(229-231)CCC>ACC	p.P77T	METT10D_uc002fuu.2_Non-coding_Transcript|METT10D_uc010cka.1_Non-coding_Transcript|METT10D_uc002fuv.2_Missense_Mutation_p.P77T	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	77							methyltransferase activity				0														0.155882	75.192226	113.626034	53	287	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2327829	2327829	9879	17	G	T	T	41	41	METT10D	T	3	3
IFT20	90410	broad.mit.edu	36	17	23680423	23680423	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23680423C>T	uc002hau.1	-	c.338G>A	c.(337-339)CGG>CAG	p.R113Q	IFT20_uc002hav.1_Missense_Mutation_p.G100S|IFT20_uc002haw.1_Missense_Mutation_p.G74S|TNFAIP1_uc002hax.1_5'Flank	NM_174887	NP_777547	Q8IY31	IFT20_HUMAN	intraflagellar transport protein IFT20	Error:Variant_position_missing_in_Q8IY31_after_alignment					cell projection organization	centriole|cilium|Golgi apparatus|microtubule basal body	protein binding				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)													0.217712	128.71623	148.601216	59	212	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Missense_Mutation	SNP	23680423	23680423	7859	17	C	T	T	23	23	IFT20	T	1	1
SEBOX	645832	broad.mit.edu	36	17	23715776	23715776	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23715776C>T	uc002hbb.1	-	c.307G>A	c.(307-309)GCC>ACC	p.A103T	SEBOX_uc010crk.1_Missense_Mutation_p.A97T	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	SEBOX homeobox isoform 1	98	Homeobox.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(13;0.000354)|Lung NSC(42;0.00115)													0.165049	83.149722	116.078832	51	258	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Missense_Mutation	SNP	23715776	23715776	14463	17	C	T	T	26	26	SEBOX	T	2	2
SLC46A1	113235	broad.mit.edu	36	17	23755834	23755834	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23755834C>A	uc002hbf.1	-	c.1008G>T	c.(1006-1008)GAG>GAT	p.E336D	SLC46A1_uc002hbg.1_Missense_Mutation_p.E336D	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	336					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)				Folic Acid(DB00158)									0.434783	78.531366	78.788448	30	39	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Missense_Mutation	SNP	23755834	23755834	15141	17	C	A	A	32	32	SLC46A1	A	3	3
SLC46A1	113235	broad.mit.edu	36	17	23755968	23755968	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23755968C>A	uc002hbf.1	-	c.874G>T	c.(874-876)GAA>TAA	p.E292*	SLC46A1_uc002hbg.1_Nonsense_Mutation_p.E292*	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	292					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)				Folic Acid(DB00158)									0.142857	27.741977	46.683412	22	132	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Nonsense_Mutation	SNP	23755968	23755968	15141	17	C	A	A	29	29	SLC46A1	A	5	3
SLC13A2	9058	broad.mit.edu	36	17	23824911	23824911	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23824911C>T	uc002hbh.1	+	c.54C>T	c.(52-54)TTC>TTT	p.F18F	SLC13A2_uc002hbi.1_5'UTR	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent	18	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)				Succinic acid(DB00139)									0.111111	6.471895	19.9786	10	80	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Silent	SNP	23824911	23824911	14887	17	C	T	T	32	32	SLC13A2	T	2	2
SLC13A2	9058	broad.mit.edu	36	17	23841607	23841607	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23841607C>T	uc002hbh.1	+	c.240C>T	c.(238-240)GTC>GTT	p.V80V	SLC13A2_uc002hbi.1_Silent_p.V9V	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent	80						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)				Succinic acid(DB00139)									0.239899	207.928495	232.388854	95	301	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Silent	SNP	23841607	23841607	14887	17	C	T	T	31	31	SLC13A2	T	1	1
UNC119	9094	broad.mit.edu	36	17	23903603	23903603	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23903603C>A	uc002hbk.1	-	c.100G>T	c.(100-102)GAA>TAA	p.E34*	UNC119_uc002hbm.1_Nonsense_Mutation_p.E34*	NM_005148	NP_005139	Q13432	U119A_HUMAN	unc119 (C.elegans) homolog isoform a	34					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction					0	Lung NSC(42;0.00431)													0.315789	14.446353	15.018164	6	13	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	23903603	23903603	17540	17	C	A	A	30	30	UNC119	A	5	3
ALDOC	230	broad.mit.edu	36	17	23924998	23924998	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23924998C>T	uc002hbp.1	-	c.881G>A	c.(880-882)CGA>CAA	p.R294Q	PIGS_uc002hbn.1_5'Flank|PIGS_uc002hbo.1_5'Flank|ALDOC_uc010cro.1_Missense_Mutation_p.R266Q	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	294					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytoskeleton|cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)													0.408333	395.956607	398.597427	147	213	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23924998	23924998	512	17	C	T	T	31	31	ALDOC	T	1	1
ALDOC	230	broad.mit.edu	36	17	23925235	23925235	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23925235C>T	uc002hbp.1	-	c.776G>A	c.(775-777)CGC>CAC	p.R259H	PIGS_uc002hbn.1_5'Flank|PIGS_uc002hbo.1_5'Flank|ALDOC_uc010cro.1_Missense_Mutation_p.R231H	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	259					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytoskeleton|cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)													0.186975	156.510911	200.132471	89	387	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23925235	23925235	512	17	C	T	T	27	27	ALDOC	T	1	1
ALDOC	230	broad.mit.edu	36	17	23926369	23926369	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23926369C>T	uc002hbp.1	-	c.223G>A	c.(223-225)GGA>AGA	p.G75R	ALDOC_uc010cro.1_Missense_Mutation_p.G75R	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	75					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytoskeleton|cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.238095	79.037923	88.263723	35	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23926369	23926369	512	17	C	T	T	21	21	ALDOC	T	2	2
SPAG5	10615	broad.mit.edu	36	17	23943932	23943932	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23943932C>T	uc002hbq.1	-	c.457G>A	c.(457-459)GCA>ACA	p.A153T		NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	153					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)													0.201166	137.215065	165.675036	69	274	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23943932	23943932	15484	17	C	T	T	26	26	SPAG5	T	2	2
KIAA0100	9703	broad.mit.edu	36	17	23970813	23970813	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23970813C>T	uc002hbu.1	-	c.5628G>A	c.(5626-5628)CTG>CTA	p.L1876L	KIAA0100_uc002hbt.1_Silent_p.L205L	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703	1876	Potential.					extracellular region				ovary(2)|breast(1)	3	Lung NSC(42;0.00431)													0.375	115.832617	117.483114	45	75	CC		KEEP	---	---	---	---	capture			Silent	SNP	23970813	23970813	8461	17	C	T	T	29	29	KIAA0100	T	2	2
KIAA0100	9703	broad.mit.edu	36	17	23979537	23979537	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23979537C>A	uc002hbu.1	-	c.4467G>T	c.(4465-4467)AAG>AAT	p.K1489N		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703	1489						extracellular region				ovary(2)|breast(1)	3	Lung NSC(42;0.00431)													0.17284	69.580982	94.17112	42	201	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23979537	23979537	8461	17	C	A	A	24	24	KIAA0100	A	3	3
KIAA0100	9703	broad.mit.edu	36	17	23983369	23983369	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23983369C>T	uc002hbu.1	-	c.3821G>A	c.(3820-3822)CGA>CAA	p.R1274Q		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703	1274						extracellular region				ovary(2)|breast(1)	3	Lung NSC(42;0.00431)													0.441296	308.334966	309.077079	109	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23983369	23983369	8461	17	C	T	T	31	31	KIAA0100	T	1	1
KIAA0100	9703	broad.mit.edu	36	17	23984453	23984453	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23984453C>A	uc002hbu.1	-	c.3559G>T	c.(3559-3561)GAT>TAT	p.D1187Y		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703	1187						extracellular region				ovary(2)|breast(1)	3	Lung NSC(42;0.00431)													0.260563	154.495075	169.272149	74	210	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23984453	23984453	8461	17	C	A	A	30	30	KIAA0100	A	3	3
KIAA0100	9703	broad.mit.edu	36	17	23985694	23985694	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23985694C>T	uc002hbu.1	-	c.3038G>A	c.(3037-3039)CGA>CAA	p.R1013Q		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703	1013						extracellular region				ovary(2)|breast(1)	3	Lung NSC(42;0.00431)													0.425	286.90051	288.079888	102	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23985694	23985694	8461	17	C	T	T	31	31	KIAA0100	T	1	1
SUPT6H	6830	broad.mit.edu	36	17	24048008	24048008	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24048008C>T	uc002hby.1	+	c.3990C>T	c.(3988-3990)ATC>ATT	p.I1330I	SUPT6H_uc010crt.1_Silent_p.I1330I	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1330	SH2.				chromatin remodeling|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity|transcription elongation regulator activity			ovary(2)	2	Lung NSC(42;0.00431)													0.383784	184.366658	186.561175	71	114	CC		KEEP	---	---	---	---	capture			Silent	SNP	24048008	24048008	15920	17	C	T	T	31	31	SUPT6H	T	1	1
SUPT6H	6830	broad.mit.edu	36	17	24048873	24048873	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24048873C>T	uc002hby.1	+	c.4318C>T	c.(4318-4320)CGC>TGC	p.R1440C	SUPT6H_uc010crt.1_Missense_Mutation_p.R1440C	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1440					chromatin remodeling|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity|transcription elongation regulator activity			ovary(2)	2	Lung NSC(42;0.00431)													0.223684	36.532182	41.871587	17	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24048873	24048873	15920	17	C	T	T	23	23	SUPT6H	T	1	1
PROCA1	147011	broad.mit.edu	36	17	24055343	24055343	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24055343C>A	uc002hca.1	-	c.371G>T	c.(370-372)AGA>ATA	p.R124I	PROCA1_uc010cru.1_Missense_Mutation_p.R102I|PROCA1_uc010crv.1_Missense_Mutation_p.R52I	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	proline-rich cyclin A1-interacting protein	152					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)													0.15	24.474289	40.94352	21	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24055343	24055343	12989	17	C	A	A	32	32	PROCA1	A	3	3
PROCA1	147011	broad.mit.edu	36	17	24055917	24055917	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24055917C>T	uc002hca.1	-	c.163G>A	c.(163-165)GCC>ACC	p.A55T	PROCA1_uc010cru.1_Missense_Mutation_p.A33T|PROCA1_uc010crv.1_5'UTR|PROCA1_uc002hcb.2_Non-coding_Transcript	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	proline-rich cyclin A1-interacting protein	83					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)													0.202899	47.564581	58.867592	28	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24055917	24055917	12989	17	C	T	T	27	27	PROCA1	T	1	1
NEK8	284086	broad.mit.edu	36	17	24092591	24092591	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24092591G>A	uc002hcp.1	+	c.1925G>A	c.(1924-1926)CGA>CAA	p.R642Q	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.1_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	642	RCC1 5.				protein phosphorylation	cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|pancreas(1)|stomach(1)|liver(1)|skin(1)	5	Lung NSC(42;0.0158)					NSCLC(6;19 293 14866 25253 49845)				183				0.443182	109.213487	109.460602	39	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24092591	24092591	10729	17	G	A	A	37	37	NEK8	A	1	1
C17orf63	55731	broad.mit.edu	36	17	24109424	24109424	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24109424C>T	uc002hcu.1	-	c.1680G>A	c.(1678-1680)GGG>GGA	p.G560G	C17orf63_uc002hct.1_Silent_p.G359G|C17orf63_uc002hcv.1_Silent_p.G560G|C17orf63_uc002hcw.2_Silent_p.G359G	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	560										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)													0.142857	18.981252	31.032389	14	84	CC		KEEP	---	---	---	---	capture	Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)		Silent	SNP	24109424	24109424	1928	17	C	T	T	18	18	C17orf63	T	2	2
DHRS13	147015	broad.mit.edu	36	17	24249625	24249625	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24249625C>T	uc002hde.2	-	c.1094G>A	c.(1093-1095)CGA>CAA	p.R365Q	FLOT2_uc002hdc.1_5'Flank|DHRS13_uc002hdd.2_Missense_Mutation_p.R315Q	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	365					oxidation-reduction process	extracellular region	binding|oxidoreductase activity				0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)													0.473684	25.171849	25.183417	9	10	CC		KEEP	---	---	---	---	capture	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		Missense_Mutation	SNP	24249625	24249625	4668	17	C	T	T	31	31	DHRS13	T	1	1
SEZ6	124925	broad.mit.edu	36	17	24308232	24308232	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24308232C>T	uc002hdp.2	-	c.2649G>A	c.(2647-2649)GGG>GGA	p.G883G	SEZ6_uc010crx.1_Silent_p.G78G|SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.G883G|SEZ6_uc002hdq.1_Silent_p.G758G	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	883	Extracellular (Potential).|Sushi 5.					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)													0.150943	11.469605	17.654881	8	45	CC		KEEP	---	---	---	---	capture	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		Silent	SNP	24308232	24308232	14631	17	C	T	T	26	26	SEZ6	T	2	2
SEZ6	124925	broad.mit.edu	36	17	24311682	24311682	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24311682C>T	uc002hdp.2	-	c.1543G>A	c.(1543-1545)GGG>AGG	p.G515R	SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.G515R|SEZ6_uc002hdq.1_Missense_Mutation_p.G390R	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	515	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)													0.357143	13.870773	14.122561	5	9	CC		KEEP	---	---	---	---	capture	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		Missense_Mutation	SNP	24311682	24311682	14631	17	C	T	T	23	23	SEZ6	T	1	1
SEZ6	124925	broad.mit.edu	36	17	24320930	24320930	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24320930C>T	uc002hdp.2	-	c.1025G>A	c.(1024-1026)GGC>GAC	p.G342D	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.G342D|SEZ6_uc002hdq.1_Missense_Mutation_p.G217D|SEZ6_uc010crz.1_Missense_Mutation_p.G342D	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	342	Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)													0.314815	39.257157	40.904134	17	37	CC		KEEP	---	---	---	---	capture	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		Missense_Mutation	SNP	24320930	24320930	14631	17	C	T	T	26	26	SEZ6	T	2	2
PIPOX	51268	broad.mit.edu	36	17	24404197	24404197	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24404197C>T	uc002hdr.1	+	c.397C>T	c.(397-399)CGG>TGG	p.R133W		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	L-pipecolic acid oxidase	133					oxidation-reduction process|tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)				Glycine(DB00145)									0.242798	131.695324	146.363431	59	184	CC		KEEP	---	---	---	---	capture	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Missense_Mutation	SNP	24404197	24404197	12367	17	C	T	T	31	31	PIPOX	T	1	1
MYO18A	399687	broad.mit.edu	36	17	24517102	24517102	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24517102C>T	uc002hdt.1	-	c.983G>A	c.(982-984)CGC>CAC	p.R328H	MYO18A_uc010csa.1_Missense_Mutation_p.R328H|MYO18A_uc002hdu.1_Missense_Mutation_p.R328H	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	328					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0						Esophageal Squamous(182;472 2015 7001 15270 22562)								0.178571	24.082005	32.249068	15	69	CC		KEEP	---	---	---	---	capture	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Missense_Mutation	SNP	24517102	24517102	10460	17	C	T	T	27	27	MYO18A	T	1	1
ABHD15	116236	broad.mit.edu	36	17	24917556	24917556	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24917556G>A	uc002hed.1	-	c.555C>T	c.(553-555)GGC>GGT	p.G185G	TP53I13_uc002hee.1_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	hypothetical protein LOC116236	185						extracellular region	carboxylesterase activity				0														0.2	12.902732	15.835563	7	28	GG		KEEP	---	---	---	---	capture			Silent	SNP	24917556	24917556	82	17	G	A	A	34	34	ABHD15	A	2	2
TP53I13	90313	broad.mit.edu	36	17	24922740	24922740	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24922740G>T	uc002hee.1	+	c.189G>T	c.(187-189)GAG>GAT	p.E63D		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	63	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0														0.373494	159.79992	162.135393	62	104	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(3;0.236)	Missense_Mutation	SNP	24922740	24922740	16928	17	G	T	T	35	35	TP53I13	T	3	3
GIT1	28964	broad.mit.edu	36	17	24927487	24927487	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24927487G>A	uc002heg.2	-	c.1515C>T	c.(1513-1515)GGC>GGT	p.G505G	GIT1_uc002hef.2_Silent_p.G496G|GIT1_uc010csb.1_Silent_p.G496G	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	496					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						Colon(81;41 1719 20078 35068)								0.222642	119.207347	137.949728	59	206	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	Silent	SNP	24927487	24927487	6664	17	G	A	A	38	38	GIT1	A	1	1
ANKRD13B	124930	broad.mit.edu	36	17	24959222	24959222	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24959222G>A	uc002hei.1	+	c.343G>A	c.(343-345)GGC>AGC	p.G115S	ANKRD13B_uc002heh.1_Intron|ANKRD13B_uc002hej.2_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	115											0														0.384615	44.228871	44.679209	15	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24959222	24959222	645	17	G	A	A	43	43	ANKRD13B	A	2	2
ANKRD13B	124930	broad.mit.edu	36	17	24960525	24960525	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24960525G>A	uc002hei.1	+	c.782G>A	c.(781-783)CGC>CAC	p.R261H	ANKRD13B_uc002heh.1_Missense_Mutation_p.R129H|ANKRD13B_uc002hej.2_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	261											0														0.493671	109.617309	109.620108	39	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24960525	24960525	645	17	G	A	A	38	38	ANKRD13B	A	1	1
CORO6	84940	broad.mit.edu	36	17	24968107	24968107	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24968107G>A	uc002hel.1	-	c.833C>T	c.(832-834)TCC>TTC	p.S278F	CORO6_uc002hem.2_Missense_Mutation_p.S44F|CORO6_uc002hen.2_Missense_Mutation_p.S44F	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	278	WD 5.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0														0.221445	203.002938	233.638885	95	334	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24968107	24968107	3896	17	G	A	A	41	41	CORO6	A	2	2
CORO6	84940	broad.mit.edu	36	17	24970213	24970213	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24970213G>T	uc002hel.1	-	c.442C>A	c.(442-444)CTC>ATC	p.L148I	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	148	WD 2.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0														0.40625	108.612417	109.347591	39	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24970213	24970213	3896	17	G	T	T	34	34	CORO6	T	3	3
SSH2	85464	broad.mit.edu	36	17	24983776	24983776	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24983776G>T	uc002heo.1	-	c.2481C>A	c.(2479-2481)GGC>GGA	p.G827G		NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	827					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0														0.240291	219.38534	244.778924	99	313	GG		KEEP	---	---	---	---	capture			Silent	SNP	24983776	24983776	15701	17	G	T	T	34	34	SSH2	T	3	3
EFCAB5	374786	broad.mit.edu	36	17	25294795	25294795	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:25294795T>C	uc002het.1	+	c.190_splice	c.e3+2	p.E64_splice	EFCAB5_uc010csd.1_Splice_Site_SNP	NM_198529	NP_940931			EF-hand calcium binding domain 5 isoform a								calcium ion binding			ovary(1)|skin(1)	2														0.5625	32.379287	32.434305	9	7	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	25294795	25294795	5125	17	T	C	C	57	57	EFCAB5	C	5	4
EFCAB5	374786	broad.mit.edu	36	17	25385458	25385458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:25385458C>T	uc002het.1	+	c.1129C>T	c.(1129-1131)CGG>TGG	p.R377W	EFCAB5_uc010csd.1_Non-coding_Transcript|EFCAB5_uc010cse.1_Missense_Mutation_p.R256W|EFCAB5_uc010csf.1_Missense_Mutation_p.R256W	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	377							calcium ion binding			ovary(1)|skin(1)	2														0.516484	135.923602	135.945125	47	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25385458	25385458	5125	17	C	T	T	31	31	EFCAB5	T	1	1
EFCAB5	374786	broad.mit.edu	36	17	25410799	25410799	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:25410799C>A	uc002het.1	+	c.2691C>A	c.(2689-2691)CTC>CTA	p.L897L	EFCAB5_uc010csd.1_Non-coding_Transcript|EFCAB5_uc010cse.1_Intron|EFCAB5_uc010csf.1_Silent_p.L776L	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	897	EF-hand.						calcium ion binding			ovary(1)|skin(1)	2														0.228723	89.713002	102.416905	43	145	CC		KEEP	---	---	---	---	capture			Silent	SNP	25410799	25410799	5125	17	C	A	A	32	32	EFCAB5	A	3	3
EFCAB5	374786	broad.mit.edu	36	17	25432008	25432008	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:25432008C>A	uc002het.1	+	c.3309C>A	c.(3307-3309)TTC>TTA	p.F1103L	EFCAB5_uc010cse.1_Missense_Mutation_p.F858L|EFCAB5_uc010csf.1_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1103							calcium ion binding			ovary(1)|skin(1)	2														0.191304	38.772476	49.025102	22	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25432008	25432008	5125	17	C	A	A	30	30	EFCAB5	A	3	3
EFCAB5	374786	broad.mit.edu	36	17	25434081	25434081	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:25434081G>A	uc002het.1	+	c.3473G>A	c.(3472-3474)CGG>CAG	p.R1158Q	EFCAB5_uc010cse.1_Missense_Mutation_p.R913Q|EFCAB5_uc010csf.1_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1158							calcium ion binding			ovary(1)|skin(1)	2														0.200913	97.875449	116.088413	44	175	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25434081	25434081	5125	17	G	A	A	39	39	EFCAB5	A	1	1
KIAA0664	23277	broad.mit.edu	36	17	2545453	2545453	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2545453G>A	uc002fuy.1	-	c.2392C>T	c.(2392-2394)CGG>TGG	p.R798W	KIAA0664_uc002fux.1_Missense_Mutation_p.R731W|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	798							binding			breast(2)	2														0.396396	109.545583	110.59622	44	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2545453	2545453	8496	17	G	A	A	38	38	KIAA0664	A	1	1
KIAA0664	23277	broad.mit.edu	36	17	2546555	2546555	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2546555C>T	uc002fuy.1	-	c.2096G>A	c.(2095-2097)CGC>CAC	p.R699H	KIAA0664_uc002fux.1_Missense_Mutation_p.R632H|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	699							binding			breast(2)	2														0.461538	16.648277	16.665023	6	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2546555	2546555	8496	17	C	T	T	27	27	KIAA0664	T	1	1
KIAA0664	23277	broad.mit.edu	36	17	2551204	2551204	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2551204G>A	uc002fuy.1	-	c.891C>T	c.(889-891)TTC>TTT	p.F297F	KIAA0664_uc002fux.1_Silent_p.F229F	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	297							binding			breast(2)	2														0.418919	84.408746	84.833875	31	43	GG		KEEP	---	---	---	---	capture			Silent	SNP	2551204	2551204	8496	17	G	A	A	37	37	KIAA0664	A	1	1
CCDC55	84081	broad.mit.edu	36	17	25532146	25532146	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:25532146C>A	uc002heu.1	+	c.603C>A	c.(601-603)AGC>AGA	p.S201R	CCDC55_uc002hev.1_Missense_Mutation_p.S147R|CCDC55_uc002hex.1_Missense_Mutation_p.S147R	NM_032141	NP_115517	Q9H0G5	CCD55_HUMAN	coiled-coil domain containing 55 isoform 1	201						nuclear speck				ovary(1)	1														0.451327	280.689862	281.15938	102	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25532146	25532146	2948	17	C	A	A	28	28	CCDC55	A	3	3
CCDC55	84081	broad.mit.edu	36	17	25536115	25536115	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:25536115C>T	uc002heu.1	+	c.974C>T	c.(973-975)TCC>TTC	p.S325F	CCDC55_uc002hev.1_Missense_Mutation_p.S271F|CCDC55_uc002hex.1_Missense_Mutation_p.S271F	NM_032141	NP_115517	Q9H0G5	CCD55_HUMAN	coiled-coil domain containing 55 isoform 1	325						nuclear speck				ovary(1)	1														0.231481	56.31283	63.452407	25	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25536115	25536115	2948	17	C	T	T	30	30	CCDC55	T	2	2
BLMH	642	broad.mit.edu	36	17	25624027	25624027	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:25624027T>C	uc002hez.1	-	c.818A>G	c.(817-819)GAC>GGC	p.D273G		NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	273					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						Pancreas(127;628 1772 12912 33293 36203)								0.180488	92.065232	111.726765	37	168	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25624027	25624027	1471	17	T	C	C	58	58	BLMH	C	4	4
CPD	1362	broad.mit.edu	36	17	25795072	25795072	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:25795072C>A	uc002hfb.1	+	c.2500C>A	c.(2500-2502)CTC>ATC	p.L834I		NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	834	Extracellular (Potential).|Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)	1														0.232258	226.125493	256.686628	108	357	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25795072	25795072	3936	17	C	A	A	32	32	CPD	A	3	3
CRLF3	51379	broad.mit.edu	36	17	26135543	26135543	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26135543C>T	uc002hfr.2	-	c.1117G>A	c.(1117-1119)GCA>ACA	p.A373T		NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	373					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of JAK-STAT cascade	cytoplasm	transcription activator activity				0		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				Pancreas(30;346 881 29244 33464 41299)								0.464789	181.634604	181.787469	66	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26135543	26135543	4027	17	C	T	T	27	27	CRLF3	T	1	1
RAP1GAP2	23108	broad.mit.edu	36	17	2650595	2650595	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2650595G>A	uc010ckd.1	+	c.80_splice	c.e2+1	p.K27_splice	RAP1GAP2_uc010cke.1_Splice_Site_SNP_p.K27_splice	NM_015085	NP_055900			GTPase activating Rap/RanGAP domain-like 4						regulation of small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1														0.3	30.382424	31.81318	12	28	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	2650595	2650595	13498	17	G	A	A	36	36	RAP1GAP2	A	5	2
NF1	4763	broad.mit.edu	36	17	26616389	26616389	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26616389A>C	uc002hgg.1	+	c.4741A>C	c.(4741-4743)AAA>CAA	p.K1581Q	NF1_uc002hgh.1_Missense_Mutation_p.K1560Q|NF1_uc002hgi.1_Missense_Mutation_p.K593Q|NF1_uc010cso.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1581	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)								847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.237838	119.713635	131.323889	44	141	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Missense_Mutation	SNP	26616389	26616389	10756	17	A	C	C	1	1	NF1	C	4	4
OMG	4974	broad.mit.edu	36	17	26646834	26646834	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26646834G>T	uc002hgj.1	-	c.642C>A	c.(640-642)CTC>CTA	p.L214L	NF1_uc002hgg.1_Intron|NF1_uc002hgh.1_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.1_Intron|OMG_uc010csp.1_Silent_p.L214L	NM_002544	NP_002535	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	214					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.?(1)		ovary(1)|central_nervous_system(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)								26				0.432377	566.593531	568.549013	211	277	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)	Silent	SNP	26646834	26646834	11271	17	G	T	T	33	33	OMG	T	3	3
NF1	4763	broad.mit.edu	36	17	26677142	26677142	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26677142G>A	uc002hgg.1	+	c.5014G>A	c.(5014-5016)GAC>AAC	p.D1672N	NF1_uc002hgh.1_Missense_Mutation_p.D1651N|NF1_uc002hgi.1_Missense_Mutation_p.D684N|NF1_uc010cso.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1672	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)								847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.261029	166.515253	180.567315	71	201	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Missense_Mutation	SNP	26677142	26677142	10756	17	G	A	A	37	37	NF1	A	1	1
NF1	4763	broad.mit.edu	36	17	26678642	26678642	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26678642G>A	uc002hgg.1	+	c.5269_splice	c.e38-1	p.V1757_splice	NF1_uc002hgh.1_Splice_Site_SNP_p.V1736_splice|NF1_uc002hgi.1_Splice_Site_SNP_p.V769_splice|NF1_uc010cso.1_Splice_Site_SNP	NM_001042492	NP_001035957			neurofibromin isoform 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)								847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.186275	41.659985	51.070247	19	83	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Splice_Site_SNP	SNP	26678642	26678642	10756	17	G	A	A	35	35	NF1	A	5	2
NF1	4763	broad.mit.edu	36	17	26694154	26694154	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26694154G>A	uc002hgg.1	+	c.7064G>A	c.(7063-7065)AGT>AAT	p.S2355N	NF1_uc002hgh.1_Missense_Mutation_p.S2334N|NF1_uc010cso.1_Missense_Mutation_p.S543N	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2355					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)								847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.171271	55.888631	74.41917	31	150	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Missense_Mutation	SNP	26694154	26694154	10756	17	G	A	A	36	36	NF1	A	2	2
NF1	4763	broad.mit.edu	36	17	26701396	26701396	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26701396C>T	uc002hgg.1	+	c.7391C>T	c.(7390-7392)ACT>ATT	p.T2464I	NF1_uc002hgh.1_Missense_Mutation_p.T2443I|NF1_uc010cso.1_Missense_Mutation_p.T652I	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2464					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)								847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.409594	325.465251	327.402592	111	160	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Missense_Mutation	SNP	26701396	26701396	10756	17	C	T	T	20	20	NF1	T	2	2
NF1	4763	broad.mit.edu	36	17	26708480	26708480	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26708480C>T	uc002hgg.1	+	c.7937C>T	c.(7936-7938)GCC>GTC	p.A2646V	NF1_uc002hgh.1_Missense_Mutation_p.A2625V|NF1_uc010cso.1_Missense_Mutation_p.A834V	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2646					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)								847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.184713	54.698454	69.3302	29	128	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Missense_Mutation	SNP	26708480	26708480	10756	17	C	T	T	26	26	NF1	T	2	2
NF1	4763	broad.mit.edu	36	17	26709730	26709730	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26709730G>T	uc002hgg.1	+	c.8077G>T	c.(8077-8079)GAA>TAA	p.E2693*	NF1_uc002hgh.1_Nonsense_Mutation_p.E2672*|NF1_uc010cso.1_Nonsense_Mutation_p.E881*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2693					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)								847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.262295	70.732357	76.978691	32	90	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Nonsense_Mutation	SNP	26709730	26709730	10756	17	G	T	T	33	33	NF1	T	5	3
RAB11FIP4	84440	broad.mit.edu	36	17	26872439	26872439	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26872439C>T	uc002hgn.1	+	c.699C>T	c.(697-699)TGC>TGT	p.C233C	RAB11FIP4_uc002hgo.1_Silent_p.C131C	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	233	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|cytoplasmic membrane-bounded vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)												0.4	188.301286	189.833976	70	105	CC		KEEP	---	---	---	---	capture			Silent	SNP	26872439	26872439	13355	17	C	T	T	26	26	RAB11FIP4	T	2	2
RAB11FIP4	84440	broad.mit.edu	36	17	26875066	26875066	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26875066G>T	uc002hgn.1	+	c.1065G>T	c.(1063-1065)GAG>GAT	p.E355D	RAB11FIP4_uc002hgo.1_Missense_Mutation_p.E253D	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	355	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|cytoplasmic membrane-bounded vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)												0.157895	9.423194	13.666936	6	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26875066	26875066	13355	17	G	T	T	33	33	RAB11FIP4	T	3	3
UTP6	55813	broad.mit.edu	36	17	27237158	27237158	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:27237158G>A	uc002hgr.1	-	c.657C>T	c.(655-657)GGC>GGT	p.G219G	UTP6_uc002hgq.1_Silent_p.G35G|UTP6_uc010cst.1_Silent_p.G68G	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	219					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)												0.155303	57.282733	87.291855	41	223	GG		KEEP	---	---	---	---	capture			Silent	SNP	27237158	27237158	17667	17	G	A	A	38	38	UTP6	A	1	1
LRRC37B	114659	broad.mit.edu	36	17	27372358	27372358	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:27372358C>T	uc002hgu.1	+	c.80C>T	c.(79-81)CCT>CTT	p.P27L	LRRC37B_uc010csu.1_Missense_Mutation_p.P27L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	27						integral to membrane				ovary(1)	1		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)												0.171642	92.40231	119.70536	46	222	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27372358	27372358	9369	17	C	T	T	24	24	LRRC37B	T	2	2
LRRC37B	114659	broad.mit.edu	36	17	27372620	27372620	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:27372620C>A	uc002hgu.1	+	c.342C>A	c.(340-342)TTC>TTA	p.F114L	LRRC37B_uc010csu.1_Missense_Mutation_p.F114L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	114	Extracellular (Potential).					integral to membrane				ovary(1)	1		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)												0.424324	417.272749	419.12923	157	213	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27372620	27372620	9369	17	C	A	A	32	32	LRRC37B	A	3	3
LRRC37B	114659	broad.mit.edu	36	17	27373907	27373907	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:27373907C>T	uc002hgu.1	+	c.1629C>T	c.(1627-1629)CGC>CGT	p.R543R	LRRC37B_uc010csu.1_Silent_p.R543R	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	543	Extracellular (Potential).					integral to membrane				ovary(1)	1		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)												0.174342	96.304409	126.720522	53	251	CC		KEEP	---	---	---	---	capture			Silent	SNP	27373907	27373907	9369	17	C	T	T	26	26	LRRC37B	T	2	2
RHBDL3	162494	broad.mit.edu	36	17	27645529	27645529	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:27645529G>A	uc002hhe.1	+	c.623G>A	c.(622-624)CGA>CAA	p.R208Q	RHBDL3_uc010csw.1_Missense_Mutation_p.R200Q|RHBDL3_uc010csx.1_Missense_Mutation_p.R208Q|RHBDL3_uc010csy.1_Missense_Mutation_p.R110Q|RHBDL3_uc002hhf.1_Missense_Mutation_p.R110Q	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3	208						integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)												0.489899	277.133379	277.151656	97	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27645529	27645529	13798	17	G	A	A	37	37	RHBDL3	A	1	1
ZNF207	7756	broad.mit.edu	36	17	27716465	27716465	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:27716465T>G	uc002hhj.2	+	c.674T>G	c.(673-675)ATG>AGG	p.M225R	ZNF207_uc002hhh.2_Missense_Mutation_p.M209R|ZNF207_uc002hhi.2_Missense_Mutation_p.M225R|ZNF207_uc010csz.1_Missense_Mutation_p.M228R|ZNF207_uc002hhk.1_Missense_Mutation_p.M225R|ZNF207_uc002hhl.1_Non-coding_Transcript	NM_001098507	NP_001091977	O43670	ZN207_HUMAN	zinc finger protein 207 isoform c	209					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)												0.216216	112.2151	125.946265	40	145	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.239)		Missense_Mutation	SNP	27716465	27716465	18356	17	T	G	G	51	51	ZNF207	G	4	4
ZNF207	7756	broad.mit.edu	36	17	27717828	27717828	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:27717828C>T	uc002hhj.2	+	c.860C>T	c.(859-861)GCT>GTT	p.A287V	ZNF207_uc002hhh.2_Missense_Mutation_p.A271V|ZNF207_uc002hhi.2_Intron|ZNF207_uc010csz.1_Missense_Mutation_p.A290V|ZNF207_uc002hhk.1_Missense_Mutation_p.A287V|ZNF207_uc002hhl.1_Non-coding_Transcript	NM_001098507	NP_001091977	O43670	ZN207_HUMAN	zinc finger protein 207 isoform c	271					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)												0.235537	134.952218	150.431417	57	185	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.239)		Missense_Mutation	SNP	27717828	27717828	18356	17	C	T	T	28	28	ZNF207	T	2	2
PSMD11	5717	broad.mit.edu	36	17	27825938	27825938	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:27825938C>T	uc010cta.1	+	c.832C>T	c.(832-834)CGG>TGG	p.R278W	PSMD11_uc002hhm.1_Missense_Mutation_p.R278W	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	278	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)				Ovarian(130;1038 1716 9294 11987 19279)								0.163842	48.961463	67.964629	29	148	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.109)		Missense_Mutation	SNP	27825938	27825938	13147	17	C	T	T	31	31	PSMD11	T	1	1
MYO1D	4642	broad.mit.edu	36	17	28072305	28072305	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:28072305G>A	uc002hho.1	-	c.1762C>T	c.(1762-1764)CGT>TGT	p.R588C	MYO1D_uc002hhp.1_Missense_Mutation_p.R588C	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	588	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.180467	155.875376	201.112052	85	386	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0362)		Missense_Mutation	SNP	28072305	28072305	10466	17	G	A	A	37	37	MYO1D	A	1	1
MYO1D	4642	broad.mit.edu	36	17	28096416	28096416	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:28096416G>A	uc002hho.1	-	c.1539C>T	c.(1537-1539)GTC>GTT	p.V513V	MYO1D_uc002hhp.1_Silent_p.V513V	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	513	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.403509	64.509628	64.974673	23	34	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0362)		Silent	SNP	28096416	28096416	10466	17	G	A	A	34	34	MYO1D	A	2	2
MYO1D	4642	broad.mit.edu	36	17	28131873	28131873	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:28131873G>A	uc002hho.1	-	c.138C>T	c.(136-138)GTC>GTT	p.V46V	MYO1D_uc002hhp.1_Silent_p.V46V	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	46	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.471831	189.071021	189.171777	67	75	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0362)		Silent	SNP	28131873	28131873	10466	17	G	A	A	37	37	MYO1D	A	1	1
TMEM98	26022	broad.mit.edu	36	17	28282763	28282763	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:28282763G>A	uc002hhq.1	+	c.104G>A	c.(103-105)CGA>CAA	p.R35Q	TMEM98_uc002hhr.1_Missense_Mutation_p.R35Q	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	35						endoplasmic reticulum|integral to membrane					0		Ovarian(249;0.182)|Breast(31;0.244)												0.555556	14.47513	14.49926	5	4	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0769)		Missense_Mutation	SNP	28282763	28282763	16765	17	G	A	A	37	37	TMEM98	A	1	1
RAP1GAP2	23108	broad.mit.edu	36	17	2835033	2835033	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2835033C>A	uc010ckd.1	+	c.736C>A	c.(736-738)CAA>AAA	p.Q246K	RAP1GAP2_uc010cke.1_Missense_Mutation_p.Q231K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	GTPase activating Rap/RanGAP domain-like 4	246					regulation of small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1														0.245146	229.685331	254.054716	101	311	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2835033	2835033	13498	17	C	A	A	21	21	RAP1GAP2	A	3	3
ACCN1	40	broad.mit.edu	36	17	28375038	28375038	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:28375038C>T	uc002hht.1	-	c.1303G>A	c.(1303-1305)GCC>ACC	p.A435T	ACCN1_uc002hhu.1_Missense_Mutation_p.A384T	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	384	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)			Amiloride(DB00594)									0.221719	103.864213	119.611122	49	172	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Missense_Mutation	SNP	28375038	28375038	129	17	C	T	T	28	28	ACCN1	T	2	2
ACCN1	40	broad.mit.edu	36	17	28642678	28642678	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:28642678T>C	uc002hht.1	-	c.569A>G	c.(568-570)GAC>GGC	p.D190G	ACCN1_uc002hhu.1_Intron	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	142	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)			Amiloride(DB00594)									0.25	28.615326	31.319095	12	36	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Missense_Mutation	SNP	28642678	28642678	129	17	T	C	C	58	58	ACCN1	C	4	4
OR1D2	4991	broad.mit.edu	36	17	2942187	2942187	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2942187T>C	uc002fvb.1	-	c.854A>G	c.(853-855)AAT>AGT	p.N285S		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	285	Helical; Name=7; (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1														0.437931	435.103756	436.074023	127	163	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2942187	2942187	11359	17	T	C	C	52	52	OR1D2	C	4	4
CCL7	6354	broad.mit.edu	36	17	29622389	29622389	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:29622389C>A	uc002hhz.1	+	c.188C>A	c.(187-189)GCT>GAT	p.A63D	CCL7_uc010ctf.1_Intron	NM_006273	NP_006264	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7 precursor	63					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			ovary(1)	1	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)												0.175115	63.738213	85.335285	38	179	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.155)	Missense_Mutation	SNP	29622389	29622389	3033	17	C	A	A	28	28	CCL7	A	3	3
OR1G1	8390	broad.mit.edu	36	17	2976969	2976969	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2976969A>G	uc002fvc.1	-	c.627T>C	c.(625-627)ATT>ATC	p.I209I		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Colon(127;1481 1654 8243 19426 50557)								0.236994	120.095373	131.024524	41	132	AA		KEEP	---	---	---	---	capture			Silent	SNP	2976969	2976969	11363	17	A	G	G	1	1	OR1G1	G	4	4
CCT6B	10693	broad.mit.edu	36	17	30290342	30290342	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30290342G>A	uc002hig.1	-	c.1186C>T	c.(1186-1188)CGT>TGT	p.R396C	CCT6B_uc010ctg.1_Missense_Mutation_p.R359C	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	396					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)												0.198529	160.942886	195.467178	81	327	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30290342	30290342	3085	17	G	A	A	37	37	CCT6B	A	1	1
CCT6B	10693	broad.mit.edu	36	17	30293987	30293987	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30293987C>A	uc002hig.1	-	c.666G>T	c.(664-666)AAG>AAT	p.K222N	CCT6B_uc010ctg.1_Intron	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	222					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)												0.202703	29.277718	35.358071	15	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30293987	30293987	3085	17	C	A	A	32	32	CCT6B	A	3	3
RFFL	117584	broad.mit.edu	36	17	30368688	30368688	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30368688G>A	uc010cti.1	-	c.660C>T	c.(658-660)AGC>AGT	p.S220S	RFFL_uc002hin.1_Silent_p.S214S|RFFL_uc002hip.1_Intron|RFFL_uc002hio.1_Silent_p.S214S|RFFL_uc002hiq.1_Intron|RFFL_uc002him.1_Silent_p.S214S	NM_057178	NP_476519	Q8WZ73	RFFL_HUMAN	rififylin	214					apoptosis	membrane	ligase activity|zinc ion binding				0		Ovarian(249;0.17)												0.163265	13.168108	18.449435	8	41	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	Silent	SNP	30368688	30368688	13721	17	G	A	A	38	38	RFFL	A	1	1
RAD51L3	5892	broad.mit.edu	36	17	30457569	30457569	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30457569G>T	uc002hir.1	-	c.525C>A	c.(523-525)ATC>ATA	p.I175I	RFFL_uc002hiq.1_Silent_p.I16I|RAD51L3_uc010ctj.1_5'UTR|RAD51L3_uc010ctk.1_Silent_p.I56I|RAD51L3_uc002hit.1_Silent_p.I56I|RAD51L3_uc002hiu.1_5'UTR|RAD51L3_uc002his.1_Silent_p.I63I|RAD51L3_uc002hiv.1_Non-coding_Transcript|RAD51L3_uc002hiw.1_Non-coding_Transcript|RAD51L3_uc010ctl.1_Non-coding_Transcript|RAD51L3_uc010ctm.1_Non-coding_Transcript	NM_002878	NP_002869	O75771	RA51D_HUMAN	RAD51-like 3 isoform 1	175					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3		Ovarian(249;0.17)												0.2	28.247797	34.953377	16	64	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	Silent	SNP	30457569	30457569	13450	17	G	T	T	33	33	RAD51L3	T	3	3
FNDC8	54752	broad.mit.edu	36	17	30481480	30481480	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30481480C>T	uc002hix.1	+	c.889C>T	c.(889-891)CGC>TGC	p.R297C		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	297										ovary(2)	2		Ovarian(249;0.17)												0.276119	88.548917	94.577041	37	97	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)	Missense_Mutation	SNP	30481480	30481480	6216	17	C	T	T	27	27	FNDC8	T	1	1
UNC45B	146862	broad.mit.edu	36	17	30504086	30504086	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30504086A>C	uc002hja.1	+	c.443A>C	c.(442-444)GAA>GCA	p.E148A	UNC45B_uc002hjb.1_Missense_Mutation_p.E148A|UNC45B_uc002hjc.1_Missense_Mutation_p.E148A|UNC45B_uc010cto.1_Missense_Mutation_p.E148A	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	148					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.446809	420.296956	420.992249	126	156	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30504086	30504086	17547	17	A	C	C	9	9	UNC45B	C	4	4
UNC45B	146862	broad.mit.edu	36	17	30510594	30510594	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30510594C>T	uc002hja.1	+	c.896C>T	c.(895-897)GCG>GTG	p.A299V	UNC45B_uc002hjb.1_Missense_Mutation_p.A299V|UNC45B_uc002hjc.1_Missense_Mutation_p.A299V|UNC45B_uc010cto.1_Missense_Mutation_p.A299V	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	299					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.463768	540.978334	541.447713	192	222	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30510594	30510594	17547	17	C	T	T	27	27	UNC45B	T	1	1
UNC45B	146862	broad.mit.edu	36	17	30521281	30521281	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30521281G>A	uc002hja.1	+	c.1583G>A	c.(1582-1584)CGA>CAA	p.R528Q	UNC45B_uc002hjb.1_Missense_Mutation_p.R528Q|UNC45B_uc002hjc.1_Missense_Mutation_p.R528Q|UNC45B_uc010cto.1_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	528					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.4	231.391569	233.275594	86	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30521281	30521281	17547	17	G	A	A	37	37	UNC45B	A	1	1
UNC45B	146862	broad.mit.edu	36	17	30522583	30522583	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30522583G>A	uc002hja.1	+	c.1825G>A	c.(1825-1827)GAA>AAA	p.E609K	UNC45B_uc002hjb.1_Missense_Mutation_p.E607K|UNC45B_uc002hjc.1_Missense_Mutation_p.E607K|UNC45B_uc010cto.1_Missense_Mutation_p.E528K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	609					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)										OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.253676	156.594155	171.551879	69	203	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30522583	30522583	17547	17	G	A	A	41	41	UNC45B	A	2	2
AMAC1	146861	broad.mit.edu	36	17	30545351	30545351	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30545351C>T	uc002hjd.1	-	c.89G>A	c.(88-90)CGC>CAC	p.R30H		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	30						integral to membrane					0														0.25641	87.037899	95.426955	40	116	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0917)	Missense_Mutation	SNP	30545351	30545351	562	17	C	T	T	27	27	AMAC1	T	1	1
AMAC1	146861	broad.mit.edu	36	17	30545431	30545431	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30545431G>A	uc002hjd.1	-	c.9C>T	c.(7-9)GGC>GGT	p.G3G		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	3						integral to membrane					0														0.321429	61.78579	64.170289	27	57	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0917)	Silent	SNP	30545431	30545431	562	17	G	A	A	46	46	AMAC1	A	2	2
SLFN5	162394	broad.mit.edu	36	17	30615623	30615623	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30615623G>A	uc002hjf.2	+	c.1447G>A	c.(1447-1449)GGC>AGC	p.G483S		NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	483					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)	2		Ovarian(249;0.17)												0.423963	268.453698	269.54986	92	125	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	Missense_Mutation	SNP	30615623	30615623	15235	17	G	A	A	39	39	SLFN5	A	1	1
SLFN11	91607	broad.mit.edu	36	17	30714714	30714714	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30714714C>A	uc010ctp.1	-	c.226G>T	c.(226-228)GAT>TAT	p.D76Y	SLFN11_uc010ctq.1_Missense_Mutation_p.D76Y|SLFN11_uc002hjh.2_Missense_Mutation_p.D76Y|SLFN11_uc002hjg.2_Missense_Mutation_p.D76Y|SLFN11_uc010ctr.1_Missense_Mutation_p.D76Y	NM_001104588	NP_689483	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	76						nucleus	ATP binding			large_intestine(1)|ovary(1)	2		Ovarian(249;0.17)												0.394286	356.747353	360.178037	138	212	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Missense_Mutation	SNP	30714714	30714714	15230	17	C	A	A	30	30	SLFN11	A	3	3
SLFN12	55106	broad.mit.edu	36	17	30762665	30762665	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30762665C>T	uc002hji.2	-	c.1542G>A	c.(1540-1542)TCG>TCA	p.S514S	SLFN12_uc002hjj.2_Silent_p.S514S|SLFN12_uc010cts.1_Silent_p.S514S	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	514							ATP binding				0		Ovarian(249;0.17)												0.242537	143.932971	160.140665	65	203	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Silent	SNP	30762665	30762665	15231	17	C	T	T	27	27	SLFN12	T	1	1
SLFN13	146857	broad.mit.edu	36	17	30795897	30795897	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30795897C>A	uc002hjk.1	-	c.916G>T	c.(916-918)GAG>TAG	p.E306*	SLFN13_uc002hjl.1_Nonsense_Mutation_p.E306*|SLFN13_uc010ctt.1_Intron|SLFN13_uc002hjm.1_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	306						intracellular	ATP binding			ovary(1)|breast(1)	2														0.24147	191.066964	214.339871	92	289	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	Nonsense_Mutation	SNP	30795897	30795897	15233	17	C	A	A	32	32	SLFN13	A	5	3
AP2B1	163	broad.mit.edu	36	17	30959485	30959485	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30959485C>A	uc002hjq.1	+	c.491C>A	c.(490-492)TCT>TAT	p.S164Y	AP2B1_uc002hjr.1_Missense_Mutation_p.S164Y|AP2B1_uc002hjs.1_Missense_Mutation_p.S107Y|AP2B1_uc002hjt.1_Missense_Mutation_p.S164Y|AP2B1_uc010ctv.1_Missense_Mutation_p.S164Y	NM_001030006	NP_001025177	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	164					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)												0.380952	293.405873	297.068235	112	182	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	Missense_Mutation	SNP	30959485	30959485	751	17	C	A	A	32	32	AP2B1	A	3	3
AP2B1	163	broad.mit.edu	36	17	31060376	31060376	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31060376C>T	uc002hjq.1	+	c.2475C>T	c.(2473-2475)ATC>ATT	p.I825I	AP2B1_uc002hjr.1_Silent_p.I811I|AP2B1_uc002hjs.1_Silent_p.I754I|AP2B1_uc002hjt.1_Silent_p.I825I|AP2B1_uc010ctv.1_Silent_p.I825I	NM_001030006	NP_001025177	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	811					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)												0.384615	106.184497	107.394316	40	64	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	Silent	SNP	31060376	31060376	751	17	C	T	T	31	31	AP2B1	T	1	1
MMP28	79148	broad.mit.edu	36	17	31117744	31117744	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31117744C>T	uc002hjy.1	-	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	484	Hemopexin-like 4.				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)												0.347826	39.304928	40.236288	16	30	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	Missense_Mutation	SNP	31117744	31117744	10056	17	C	T	T	27	27	MMP28	T	1	1
TAF15	8148	broad.mit.edu	36	17	31160690	31160690	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31160690T>C	uc002hkd.1	+	c.4T>C	c.(4-6)TCG>CCG	p.S2P	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.1_Missense_Mutation_p.S2P|TAF15_uc002hkb.2_Non-coding_Transcript	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	2	Gln/Gly/Ser/Tyr-rich.					cytoplasm|nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|skin(1)	34		Ovarian(249;0.17)								696				0.179487	29.564724	37.176694	14	64	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	Missense_Mutation	SNP	31160690	31160690	16039	17	T	C	C	58	58	TAF15	C	4	4
TAF15	8148	broad.mit.edu	36	17	31195972	31195972	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31195972G>A	uc002hkd.1	+	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	TAF15_uc002hkc.1_Missense_Mutation_p.R516Q	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	519	Arg/Gly-rich.|15.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.					cytoplasm|nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|skin(1)	34		Ovarian(249;0.17)								696				0.457627	147.53389	147.718155	54	64	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	Missense_Mutation	SNP	31195972	31195972	16039	17	G	A	A	37	37	TAF15	A	1	1
C17orf66	256957	broad.mit.edu	36	17	31206271	31206271	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31206271G>A	uc002hke.1	-	c.1622C>T	c.(1621-1623)TCG>TTG	p.S541L		NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	541							binding			breast(2)	2		Ovarian(249;0.17)												0.251678	171.788432	188.480505	75	223	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	Missense_Mutation	SNP	31206271	31206271	1931	17	G	A	A	37	37	C17orf66	A	1	1
C17orf66	256957	broad.mit.edu	36	17	31206387	31206387	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31206387G>A	uc002hke.1	-	c.1506C>T	c.(1504-1506)AAC>AAT	p.N502N		NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	502							binding			breast(2)	2		Ovarian(249;0.17)												0.423729	410.359155	412.161557	150	204	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	Silent	SNP	31206387	31206387	1931	17	G	A	A	44	44	C17orf66	A	2	2
C17orf66	256957	broad.mit.edu	36	17	31206509	31206509	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31206509G>A	uc002hke.1	-	c.1384C>T	c.(1384-1386)CTT>TTT	p.L462F		NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	462							binding			breast(2)	2		Ovarian(249;0.17)												0.22	78.029263	88.938558	33	117	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	Missense_Mutation	SNP	31206509	31206509	1931	17	G	A	A	35	35	C17orf66	A	2	2
C17orf66	256957	broad.mit.edu	36	17	31209336	31209336	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31209336G>A	uc002hke.1	-	c.1133C>T	c.(1132-1134)ACG>ATG	p.T378M		NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	378							binding			breast(2)	2		Ovarian(249;0.17)												0.210526	177.275886	209.683462	88	330	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	Missense_Mutation	SNP	31209336	31209336	1931	17	G	A	A	40	40	C17orf66	A	1	1
CCL5	6352	broad.mit.edu	36	17	31223535	31223535	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31223535T>C	uc002hkf.1	-	c.235A>G	c.(235-237)AAA>GAA	p.K79E		NM_002985	NP_002976	P13501	CCL5_HUMAN	small inducible cytokine A5 precursor	79					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity				0		Ovarian(249;0.17)								333				0.466899	459.419503	459.693065	134	153	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)	Missense_Mutation	SNP	31223535	31223535	3032	17	T	C	C	62	62	CCL5	C	4	4
OR3A2	4995	broad.mit.edu	36	17	3128169	3128169	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3128169G>T	uc002fvg.1	-	c.811C>A	c.(811-813)CTG>ATG	p.L271M		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	271	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)								0.188482	72.277971	89.634827	36	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3128169	3128169	11444	17	G	T	T	36	36	OR3A2	T	3	3
CCL15	6359	broad.mit.edu	36	17	31335010	31335010	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31335010G>T	uc002hko.1	-	c.270C>A	c.(268-270)GTC>GTA	p.V90V	CCL16_uc002hkl.1_5'Flank|CCL16_uc002hkm.1_5'Flank|CCL14_uc002hkn.1_Non-coding_Transcript|CCL14_uc002hkp.1_Silent_p.V74V	NM_032962	NP_116738	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 14 isoform 2	92					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			ovary(1)	1		Ovarian(249;0.17)												0.179641	48.231584	64.379154	30	137	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Silent	SNP	31335010	31335010	3011	17	G	T	T	33	33	CCL15	T	3	3
ZNHIT3	9326	broad.mit.edu	36	17	31925195	31925195	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31925195T>C	uc002hms.1	+	c.302T>C	c.(301-303)TTA>TCA	p.L101S	ZNHIT3_uc002hmt.1_Non-coding_Transcript|ZNHIT3_uc010cut.1_Intron	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	thyroid hormone receptor interactor 3	101					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding				0		Breast(25;0.00957)|Ovarian(249;0.17)				Pancreas(89;112 2361 26810)								0.230415	140.953144	155.395841	50	167	TT		KEEP	---	---	---	---	capture	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)	Missense_Mutation	SNP	31925195	31925195	18812	17	T	C	C	61	61	ZNHIT3	C	4	4
GGNBP2	79893	broad.mit.edu	36	17	32016464	32016464	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32016464C>T	uc002hnb.1	+	c.1448C>T	c.(1447-1449)TCG>TTG	p.S483L	GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.S312L	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	483					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)												0.432353	408.566965	409.923435	147	193	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	Missense_Mutation	SNP	32016464	32016464	6627	17	C	T	T	31	31	GGNBP2	T	1	1
GGNBP2	79893	broad.mit.edu	36	17	32017579	32017579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32017579C>T	uc002hnb.1	+	c.1681C>T	c.(1681-1683)CGA>TGA	p.R561*		NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	561					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)												0.215054	42.045398	49.019838	20	73	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	Nonsense_Mutation	SNP	32017579	32017579	6627	17	C	T	T	31	31	GGNBP2	T	5	1
GGNBP2	79893	broad.mit.edu	36	17	32017770	32017770	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32017770G>A	uc002hnb.1	+	c.1872G>A	c.(1870-1872)AAG>AAA	p.K624K		NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	624					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)												0.43487	650.489222	652.336663	217	282	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	Silent	SNP	32017770	32017770	6627	17	G	A	A	33	33	GGNBP2	A	2	2
DHRS11	79154	broad.mit.edu	36	17	32030218	32030218	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32030218C>A	uc002hnd.1	+	c.588C>A	c.(586-588)ATC>ATA	p.I196I	MRM1_uc002hne.1_5'Flank|MRM1_uc002hnf.1_5'Flank	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	short-chain dehydrogenase/reductase	196					oxidation-reduction process	extracellular region	binding|oxidoreductase activity				0														0.193237	68.276226	86.474619	40	167	CC		KEEP	---	---	---	---	capture			Silent	SNP	32030218	32030218	4666	17	C	A	A	32	32	DHRS11	A	3	3
AATF	26574	broad.mit.edu	36	17	32384489	32384489	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32384489G>T	uc002hni.1	+	c.474G>T	c.(472-474)GAG>GAT	p.E158D	AATF_uc002hnj.1_Non-coding_Transcript	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	158	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				NSCLC(49;901 1159 19183 41572 46244)								0.182432	45.922336	59.956902	27	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32384489	32384489	26	17	G	T	T	33	33	AATF	T	3	3
AATF	26574	broad.mit.edu	36	17	32450423	32450423	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32450423C>T	uc002hni.1	+	c.1405C>T	c.(1405-1407)CGA>TGA	p.R469*	AATF_uc002hnj.1_Non-coding_Transcript	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	469	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				NSCLC(49;901 1159 19183 41572 46244)								0.408497	347.198407	349.44143	125	181	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	32450423	32450423	26	17	C	T	T	31	31	AATF	T	5	1
ACACA	31	broad.mit.edu	36	17	32638730	32638730	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32638730G>A	uc002hno.1	-	c.3805C>T	c.(3805-3807)CGG>TGG	p.R1269W	ACACA_uc002hnk.1_Missense_Mutation_p.R1154W|ACACA_uc002hnl.1_Missense_Mutation_p.R1174W|ACACA_uc002hnm.1_Missense_Mutation_p.R1232W|ACACA_uc002hnn.1_Missense_Mutation_p.R1232W	NM_198834	NP_942135	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	1232					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)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)				742				0.434783	164.508733	165.012928	60	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32638730	32638730	107	17	G	A	A	38	38	ACACA	A	1	1
ACACA	31	broad.mit.edu	36	17	32715929	32715929	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32715929C>A	uc002hno.1	-	c.394G>T	c.(394-396)GAT>TAT	p.D132Y	ACACA_uc002hnk.1_Missense_Mutation_p.D17Y|ACACA_uc002hnl.1_Missense_Mutation_p.D37Y|ACACA_uc002hnm.1_Missense_Mutation_p.D95Y|ACACA_uc002hnn.1_Missense_Mutation_p.D95Y|ACACA_uc010cuz.1_Missense_Mutation_p.D95Y|ACACA_uc002hnq.2_Missense_Mutation_p.D17Y|ACACA_uc002hnp.1_Non-coding_Transcript	NM_198834	NP_942135	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	95					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)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)				742				0.17377	86.161067	116.837595	53	252	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32715929	32715929	107	17	C	A	A	32	32	ACACA	A	3	3
OR1E2	8388	broad.mit.edu	36	17	3283537	3283537	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3283537C>T	uc002fvl.1	-	c.349G>A	c.(349-351)GCC>ACC	p.A117T		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.204301	38.472644	46.020673	19	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3283537	3283537	11361	17	C	T	T	26	26	OR1E2	T	2	2
TADA2A	6871	broad.mit.edu	36	17	32901718	32901718	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32901718A>G	uc002hnt.1	+	c.871A>G	c.(871-873)ACA>GCA	p.T291A	TADA2A_uc002hnv.1_Missense_Mutation_p.T291A|TADA2A_uc002hnw.1_Missense_Mutation_p.T190A|TADA2A_uc010cvb.1_Missense_Mutation_p.T87A	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2-like isoform a	291					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)	3														0.282828	81.962387	86.153953	28	71	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32901718	32901718	16031	17	A	G	G	10	10	TADA2A	G	4	4
SYNRG	11276	broad.mit.edu	36	17	32970220	32970220	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32970220C>T	uc002hoa.1	-	c.3640G>A	c.(3640-3642)GGC>AGC	p.G1214S	SYNRG_uc002hob.1_Missense_Mutation_p.G1214S|SYNRG_uc002hoc.1_Missense_Mutation_p.G1135S|SYNRG_uc002hod.1_Missense_Mutation_p.G1091S|SYNRG_uc002hoe.1_Missense_Mutation_p.G1136S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	AP1 gamma subunit binding protein 1 isoform 1	1214					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2														0.254777	98.72848	107.293252	40	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32970220	32970220	15981	17	C	T	T	23	23	SYNRG	T	1	1
SYNRG	11276	broad.mit.edu	36	17	33030425	33030425	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33030425C>A	uc002hoa.1	-	c.198G>T	c.(196-198)ATG>ATT	p.M66I	SYNRG_uc002hob.1_Missense_Mutation_p.M66I|SYNRG_uc002hoc.1_Missense_Mutation_p.M65I|SYNRG_uc002hod.1_Missense_Mutation_p.M66I|SYNRG_uc002hoe.1_Missense_Mutation_p.M66I|SYNRG_uc002hog.1_Missense_Mutation_p.M99I	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	AP1 gamma subunit binding protein 1 isoform 1	66					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2														0.138554	28.700386	49.682878	23	143	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33030425	33030425	15981	17	C	A	A	29	29	SYNRG	A	3	3
HNF1B	6928	broad.mit.edu	36	17	33165747	33165747	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33165747C>T	uc002hok.2	-	c.997G>A	c.(997-999)GGC>AGC	p.G333S	HNF1B_uc010cve.1_Missense_Mutation_p.G141S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	transcription factor 2	333					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)				Colon(71;102 1179 9001 27917 43397)				411				0.433735	105.480363	105.799128	36	47	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(1;0.0142)		Missense_Mutation	SNP	33165747	33165747	7544	17	C	T	T	23	23	HNF1B	T	1	1
HNF1B	6928	broad.mit.edu	36	17	33167710	33167710	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33167710C>T	uc002hok.2	-	c.762G>A	c.(760-762)AAG>AAA	p.K254K	HNF1B_uc010cve.1_Silent_p.K62K	NM_000458	NP_000449	P35680	HNF1B_HUMAN	transcription factor 2	254	Homeobox; HNF1-type.				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)				Colon(71;102 1179 9001 27917 43397)				411				0.177546	138.757721	176.272502	68	315	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(1;0.0142)		Silent	SNP	33167710	33167710	7544	17	C	T	T	32	32	HNF1B	T	2	2
TBC1D3	729873	broad.mit.edu	36	17	33600843	33600843	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33600843C>A	uc002hpr.2	-	c.46G>T	c.(46-48)GAG>TAG	p.E16*	TBC1D3_uc002hpo.2_Nonsense_Mutation_p.E16*|TBC1D3_uc002hpq.2_Non-coding_Transcript|TBC1D3_uc010cvj.1_Nonsense_Mutation_p.E16*|TBC1D3_uc010cvk.1_Nonsense_Mutation_p.E16*|TBC1D3_uc002hpp.2_Nonsense_Mutation_p.E16*	NM_001123390	NP_001116862	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3H	16						intracellular	Rab GTPase activator activity				0	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)												0.140461	78.875625	138.462635	67	410	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Nonsense_Mutation	SNP	33600843	33600843	16142	17	C	A	A	32	32	TBC1D3	A	5	3
GPR179	440435	broad.mit.edu	36	17	33736214	33736214	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33736214C>T	uc002hpz.1	-	c.6764G>A	c.(6763-6765)GGC>GAC	p.G2255D		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1	2255	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)												0.49115	317.920696	317.935647	111	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33736214	33736214	6949	17	C	T	T	26	26	GPR179	T	2	2
GPR179	440435	broad.mit.edu	36	17	33736371	33736371	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33736371C>A	uc002hpz.1	-	c.6607G>T	c.(6607-6609)GAA>TAA	p.E2203*		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1	2203	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)												0.43578	252.868699	253.656227	95	123	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	33736371	33736371	6949	17	C	A	A	32	32	GPR179	A	5	3
GPR179	440435	broad.mit.edu	36	17	33736786	33736786	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33736786C>A	uc002hpz.1	-	c.6192G>T	c.(6190-6192)GAG>GAT	p.E2064D		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1	2064	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)												0.201835	120.629572	147.684379	66	261	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33736786	33736786	6949	17	C	A	A	32	32	GPR179	A	3	3
GPR179	440435	broad.mit.edu	36	17	33738400	33738400	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33738400C>A	uc002hpz.1	-	c.4578G>T	c.(4576-4578)CAG>CAT	p.Q1526H		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1	1526	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)												0.239787	286.894605	321.737355	135	428	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33738400	33738400	6949	17	C	A	A	32	32	GPR179	A	3	3
GPR179	440435	broad.mit.edu	36	17	33739536	33739536	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33739536C>A	uc002hpz.1	-	c.3442G>T	c.(3442-3444)GAT>TAT	p.D1148Y		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1	1148	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)												0.424501	431.588052	433.313164	149	202	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33739536	33739536	6949	17	C	A	A	31	31	GPR179	A	3	3
GPR179	440435	broad.mit.edu	36	17	33740294	33740294	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33740294C>T	uc002hpz.1	-	c.2684G>A	c.(2683-2685)CGA>CAA	p.R895Q		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1	895	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)												0.428571	22.259989	22.355196	9	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33740294	33740294	6949	17	C	T	T	31	31	GPR179	T	1	1
GPR179	440435	broad.mit.edu	36	17	33740579	33740579	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33740579C>T	uc002hpz.1	-	c.2399G>A	c.(2398-2400)CGA>CAA	p.R800Q		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1	800	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)												0.631579	71.706563	72.284792	24	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33740579	33740579	6949	17	C	T	T	31	31	GPR179	T	1	1
TRPV3	162514	broad.mit.edu	36	17	3380233	3380233	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3380233G>T	uc002fvr.2	-	c.1080C>A	c.(1078-1080)ATC>ATA	p.I360I	TRPV3_uc002fvt.1_Silent_p.I360I|TRPV3_uc002fvu.2_Silent_p.I360I|TRPV3_uc002fvs.1_Non-coding_Transcript	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	360	ANK 3.|Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)									0.215054	37.038858	44.022187	20	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	3380233	3380233	17148	17	G	T	T	41	41	TRPV3	T	3	3
SRCIN1	80725	broad.mit.edu	36	17	33961794	33961794	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33961794C>T	uc002hqd.1	-	c.2581G>A	c.(2581-2583)GAA>AAA	p.E861K	SRCIN1_uc002hqe.1_5'Flank|SRCIN1_uc002hqf.1_Missense_Mutation_p.E733K|SRCIN1_uc002hqg.2_Missense_Mutation_p.E167K	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	733					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0														0.26178	114.981095	124.779899	50	141	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33961794	33961794	15650	17	C	T	T	31	31	SRCIN1	T	1	1
MLLT6	4302	broad.mit.edu	36	17	34129604	34129604	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34129604G>A	uc002hqi.2	+	c.2085G>A	c.(2083-2085)CCG>CCA	p.P695P	MLLT6_uc002hqj.2_Silent_p.P130P|MLLT6_uc002hqk.2_Silent_p.P26P	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	695					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			skin(1)	1	Breast(7;4.43e-21)									439				0.545455	75.101056	75.179893	24	20	GG		KEEP	---	---	---	---	capture			Silent	SNP	34129604	34129604	10020	17	G	A	A	39	39	MLLT6	A	1	1
PIP4K2B	8396	broad.mit.edu	36	17	34209136	34209136	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34209136G>A	uc002hqs.1	-	c.68C>T	c.(67-69)ACC>ATC	p.T23I	PIP4K2B_uc002hqt.2_Missense_Mutation_p.T23I	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	23					cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1										165				0.28	31.445187	33.611612	14	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34209136	34209136	12361	17	G	A	A	44	44	PIP4K2B	A	2	2
FBXO47	494188	broad.mit.edu	36	17	34353465	34353465	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34353465G>T	uc002hrc.1	-	c.844C>A	c.(844-846)CTG>ATG	p.L282M		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	282											0														0.418919	165.408702	166.261217	62	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34353465	34353465	5993	17	G	T	T	33	33	FBXO47	T	3	3
TRPV1	7442	broad.mit.edu	36	17	3441354	3441354	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3441354G>A	uc002fvv.1	-	c.327C>T	c.(325-327)ACC>ACT	p.T109T	TRPV1_uc010ckh.1_Non-coding_Transcript|TRPV1_uc010cki.1_Non-coding_Transcript|TRPV1_uc002fvw.1_Silent_p.T109T|TRPV1_uc002fvx.1_Silent_p.T109T|TRPV1_uc002fvy.1_Silent_p.T109T	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	109	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					Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	Melanoma(38;962 1762 15789)								0.113402	11.165533	25.461199	11	86	GG		KEEP	---	---	---	---	capture		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Silent	SNP	3441354	3441354	17146	17	G	A	A	43	43	TRPV1	A	2	2
TRPV1	7442	broad.mit.edu	36	17	3442355	3442355	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3442355C>T	uc002fvv.1	-	c.39G>A	c.(37-39)GCG>GCA	p.A13A	TRPV1_uc010ckh.1_Non-coding_Transcript|TRPV1_uc010cki.1_Non-coding_Transcript|TRPV1_uc002fvw.1_Silent_p.A13A|TRPV1_uc002fvx.1_Silent_p.A13A|TRPV1_uc002fvy.1_Silent_p.A13A	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	13	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					Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	Melanoma(38;962 1762 15789)								0.464286	39.572453	39.6035	13	15	CC		KEEP	---	---	---	---	capture		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Silent	SNP	3442355	3442355	17146	17	C	T	T	23	23	TRPV1	T	1	1
PLXDC1	57125	broad.mit.edu	36	17	34477705	34477705	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34477705G>A	uc002hrg.1	-	c.1417C>T	c.(1417-1419)CGC>TGC	p.R473C	PLXDC1_uc010cvr.1_Missense_Mutation_p.R169C|PLXDC1_uc002hrh.1_Non-coding_Transcript|PLXDC1_uc002hri.1_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	473	Cytoplasmic (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)	2														0.431373	181.032035	181.657908	66	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34477705	34477705	12543	17	G	A	A	37	37	PLXDC1	A	1	1
PLXDC1	57125	broad.mit.edu	36	17	34519028	34519028	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34519028G>A	uc002hrg.1	-	c.398C>T	c.(397-399)TCG>TTG	p.S133L	PLXDC1_uc002hrh.1_Non-coding_Transcript|PLXDC1_uc002hri.1_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	133	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)	2														0.304348	17.219145	18.003205	7	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34519028	34519028	12543	17	G	A	A	37	37	PLXDC1	A	1	1
SHPK	23729	broad.mit.edu	36	17	3460827	3460827	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3460827C>A	uc002fvz.1	-	c.1213G>T	c.(1213-1215)GGC>TGC	p.G405C	TRPV1_uc002fvy.1_5'Flank	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	carbohydrate kinase-like	405					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			ovary(1)	1														0.239203	154.135137	172.843471	72	229	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(5;0.0828)	Missense_Mutation	SNP	3460827	3460827	14785	17	C	A	A	24	24	SHPK	A	3	3
RPL19	6143	broad.mit.edu	36	17	34611034	34611034	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34611034C>T	uc002hrq.1	+	c.48C>T	c.(46-48)CGC>CGT	p.R16R	RPL19_uc002hrr.1_Silent_p.R14R	NM_000981	NP_000972	P84098	RL19_HUMAN	ribosomal protein L19	16					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0														0.230415	122.335414	136.791928	50	167	CC		KEEP	---	---	---	---	capture			Silent	SNP	34611034	34611034	14045	17	C	T	T	28	28	RPL19	T	2	2
FBXL20	84961	broad.mit.edu	36	17	34706906	34706906	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34706906G>A	uc002hrt.1	-	c.398C>T	c.(397-399)GCT>GTT	p.A133V	FBXL20_uc010cvu.1_Missense_Mutation_p.A133V	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	133	LRR 3.					cytoplasm				ovary(1)	1														0.382022	90.726513	91.813334	34	55	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(14;0.146)		Missense_Mutation	SNP	34706906	34706906	5954	17	G	A	A	38	38	FBXL20	A	1	1
MED1	5469	broad.mit.edu	36	17	34819116	34819116	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34819116C>A	uc002hrv.2	-	c.2884G>T	c.(2884-2886)GAC>TAC	p.D962Y	MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	962	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|kidney(1)	2		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)				Pancreas(21;279 768 2492 4877 24026)								0.285714	65.991671	70.329006	30	75	CC		KEEP	---	---	---	---	capture	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	Missense_Mutation	SNP	34819116	34819116	9814	17	C	A	A	30	30	MED1	A	3	3
MED1	5469	broad.mit.edu	36	17	34820099	34820099	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34820099G>A	uc002hrv.2	-	c.1901C>T	c.(1900-1902)TCG>TTG	p.S634L	MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	634	Interaction with PPARGC1A and THRA.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|kidney(1)	2		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)				Pancreas(21;279 768 2492 4877 24026)								0.215909	79.988591	93.072876	38	138	GG		KEEP	---	---	---	---	capture	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	Missense_Mutation	SNP	34820099	34820099	9814	17	G	A	A	37	37	MED1	A	1	1
CDK12	51755	broad.mit.edu	36	17	34872311	34872311	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34872311C>T	uc010cvv.1	+	c.461C>T	c.(460-462)TCG>TTG	p.S154L	CDK12_uc002hrw.2_Missense_Mutation_p.S154L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	154					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity|RNA polymerase II transcription factor activity			ovary(8)|lung(2)|large_intestine(1)	11										277	TCGA Ovarian(9;0.13)			0.221311	58.261481	66.982475	27	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34872311	34872311	3257	17	C	T	T	31	31	CDK12	T	1	1
CDK12	51755	broad.mit.edu	36	17	34927307	34927307	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34927307C>T	uc010cvv.1	+	c.2935C>T	c.(2935-2937)CGA>TGA	p.R979*	CDK12_uc002hrw.2_Nonsense_Mutation_p.R979*	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	979	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity|RNA polymerase II transcription factor activity			ovary(8)|lung(2)|large_intestine(1)	11									p.R979*(HS936.T-Tumor)	277	TCGA Ovarian(9;0.13)			0.174359	59.335558	78.848789	34	161	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	34927307	34927307	3257	17	C	T	T	31	31	CDK12	T	5	1
CDK12	51755	broad.mit.edu	36	17	34940908	34940908	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:34940908C>T	uc010cvv.1	+	c.4286C>T	c.(4285-4287)TCT>TTT	p.S1429F	CDK12_uc002hrw.2_Missense_Mutation_p.S1420F	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1429					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity|RNA polymerase II transcription factor activity			ovary(8)|lung(2)|large_intestine(1)	11										277	TCGA Ovarian(9;0.13)			0.172566	75.174821	98.074067	39	187	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34940908	34940908	3257	17	C	T	T	32	32	CDK12	T	2	2
PNMT	5409	broad.mit.edu	36	17	35079776	35079776	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35079776C>T	uc002hsi.1	+	c.457C>T	c.(457-459)CGG>TGG	p.R153W		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	153					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)								p.R153W(COLO792-Tumor)	49				0.40566	103.164461	103.996498	43	63	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		Missense_Mutation	SNP	35079776	35079776	12586	17	C	T	T	19	19	PNMT	T	1	1
ERBB2	2064	broad.mit.edu	36	17	35125303	35125303	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35125303G>A	uc002hso.1	+	c.1301G>A	c.(1300-1302)CGA>CAA	p.R434Q	ERBB2_uc002hsl.2_Missense_Mutation_p.R404Q|ERBB2_uc002hsm.1_Missense_Mutation_p.R404Q|ERBB2_uc002hsp.1_Missense_Mutation_p.R237Q|ERBB2_uc010cwb.1_Missense_Mutation_p.R434Q	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	erbB-2 isoform a	434	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(71)|central_nervous_system(16)|ovary(13)|stomach(12)|breast(5)|upper_aerodigestive_tract(4)|large_intestine(3)|liver(3)|endometrium(2)|pancreas(1)	130	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)			Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)			1		271	TCGA GBM(5;<1E-8)			0.387387	119.39617	120.630685	43	68	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Missense_Mutation	SNP	35125303	35125303	5399	17	G	A	A	37	37	ERBB2	A	1	1
ERBB2	2064	broad.mit.edu	36	17	35126094	35126094	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35126094G>A	uc002hso.1	+	c.1528G>A	c.(1528-1530)GCC>ACC	p.A510T	ERBB2_uc002hsl.2_Missense_Mutation_p.A480T|ERBB2_uc002hsm.1_Missense_Mutation_p.A480T|ERBB2_uc002hsp.1_Missense_Mutation_p.A313T|ERBB2_uc010cwb.1_Missense_Mutation_p.A510T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	erbB-2 isoform a	510	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(71)|central_nervous_system(16)|ovary(13)|stomach(12)|breast(5)|upper_aerodigestive_tract(4)|large_intestine(3)|liver(3)|endometrium(2)|pancreas(1)	130	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)			Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)			1		271	TCGA GBM(5;<1E-8)			0.733333	68.76058	70.235543	22	8	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Missense_Mutation	SNP	35126094	35126094	5399	17	G	A	A	42	42	ERBB2	A	2	2
ERBB2	2064	broad.mit.edu	36	17	35135578	35135578	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35135578C>T	uc002hso.1	+	c.2818C>T	c.(2818-2820)CGG>TGG	p.R940W	ERBB2_uc002hsm.1_Missense_Mutation_p.R910W|ERBB2_uc002hsp.1_Missense_Mutation_p.R743W|ERBB2_uc010cwb.1_Missense_Mutation_p.R940W	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	erbB-2 isoform a	940	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(71)|central_nervous_system(16)|ovary(13)|stomach(12)|breast(5)|upper_aerodigestive_tract(4)|large_intestine(3)|liver(3)|endometrium(2)|pancreas(1)	130	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)			Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)			1		271	TCGA GBM(5;<1E-8)			0.189189	42.191619	55.619617	28	120	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Missense_Mutation	SNP	35135578	35135578	5399	17	C	T	T	27	27	ERBB2	T	1	1
ZPBP2	124626	broad.mit.edu	36	17	35285042	35285042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35285042C>T	uc002hte.1	+	c.718C>T	c.(718-720)CGA>TGA	p.R240*	ZPBP2_uc002htf.1_Nonsense_Mutation_p.R218*	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2 isoform 2	240					binding of sperm to zona pellucida	extracellular region				ovary(1)	1	Colorectal(19;0.000442)													0.190789	57.780265	71.370178	29	123	CC		KEEP	---	---	---	---	capture	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		Nonsense_Mutation	SNP	35285042	35285042	18824	17	C	T	T	31	31	ZPBP2	T	5	1
GSDMA	284110	broad.mit.edu	36	17	35376074	35376074	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35376074A>G	uc002htl.1	+	c.250A>G	c.(250-252)ATG>GTG	p.M84V	GSDMA_uc002htm.1_Missense_Mutation_p.M84V	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	84					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0														0.430769	283.891342	284.70171	84	111	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35376074	35376074	7096	17	A	G	G	16	16	GSDMA	G	4	4
P2RX5	5026	broad.mit.edu	36	17	3540496	3540496	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3540496G>A	uc002fwh.1	-	c.507C>T	c.(505-507)TGC>TGT	p.C169C	P2RX5_uc002fwd.1_Non-coding_Transcript|P2RX5_uc002fwi.1_Silent_p.C169C|P2RX5_uc002fwj.1_Silent_p.C145C|P2RX5_uc002fwk.1_Silent_p.C169C|P2RX5_uc002fwl.1_Silent_p.C145C|P2RX5_uc002fwm.1_Silent_p.C169C	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	169	Extracellular (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0														0.265625	39.466257	42.63108	17	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	3540496	3540496	11756	17	G	A	A	42	42	P2RX5	A	2	2
THRA	7067	broad.mit.edu	36	17	35484270	35484270	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35484270G>A	uc002htw.1	+	c.3G>A	c.(1-3)ATG>ATA	p.M1I	THRA_uc010cwp.1_Missense_Mutation_p.M1I|THRA_uc002htv.1_Missense_Mutation_p.M1I|THRA_uc002htx.2_Missense_Mutation_p.M1I	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	1	Modulating.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	promoter binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription initiation factor antagonist activity|transcription repressor activity|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)									0.133333	16.869849	30.583076	14	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35484270	35484270	16401	17	G	A	A	47	47	THRA	A	2	2
RAPGEFL1	51195	broad.mit.edu	36	17	35602414	35602414	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35602414G>T	uc010cwu.1	+	c.1069G>T	c.(1069-1071)GAA>TAA	p.E357*		NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	563	Ras-GEF.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)	2						Esophageal Squamous(28;274 750 6870 14218 42203)								0.40367	565.894411	570.340172	220	325	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	35602414	35602414	13509	17	G	T	T	33	33	RAPGEFL1	T	5	3
GSG2	83903	broad.mit.edu	36	17	3575957	3575957	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3575957C>T	uc002fwp.1	+	c.1979C>T	c.(1978-1980)ACC>ATC	p.T660I	ITGAE_uc002fwn.2_5'Flank|ITGAE_uc002fwo.2_Intron	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	660	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity				0										41				0.257384	132.76034	145.41461	61	176	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3575957	3575957	7102	17	C	T	T	18	18	GSG2	T	2	2
RARA	5914	broad.mit.edu	36	17	35762204	35762204	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35762204C>T	uc002hum.1	+	c.726C>T	c.(724-726)TTC>TTT	p.F242F	RARA_uc002huk.1_Silent_p.F242F|RARA_uc002hul.2_Silent_p.F242F|RARA_uc002hun.1_Silent_p.F237F	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	242	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene-specific transcription|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cell surface|cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2		Breast(137;0.00328)			Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)					272				0.2375	83.289193	93.351423	38	122	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.00143)		Silent	SNP	35762204	35762204	13512	17	C	T	T	31	31	RARA	T	1	1
TOP2A	7153	broad.mit.edu	36	17	35826537	35826537	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35826537G>T	uc002huq.1	-	c.158C>A	c.(157-159)TCT>TAT	p.S53Y		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	53					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)			Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)					636				0.19802	188.680764	231.593763	100	405	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.00183)		Missense_Mutation	SNP	35826537	35826537	16907	17	G	T	T	33	33	TOP2A	T	3	3
CCR7	1236	broad.mit.edu	36	17	35968688	35968688	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35968688G>T	uc002huw.1	-	c.43C>A	c.(43-45)CTC>ATC	p.L15I		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	15					activation of Rho GTPase activity|cell maturation|establishment of T cell polarity|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding				0		Breast(137;0.000496)												0.22449	43.495349	50.336476	22	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35968688	35968688	3073	17	G	T	T	33	33	CCR7	T	3	3
ITGAE	3682	broad.mit.edu	36	17	3600465	3600465	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3600465C>A	uc002fwo.2	-	c.1954G>T	c.(1954-1956)GGC>TGC	p.G652C		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	652	FG-GAP 7.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4						NSCLC(182;635 2928 8995 38788)				37				0.299213	89.697583	94.275677	38	89	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	Missense_Mutation	SNP	3600465	3600465	8189	17	C	A	A	21	21	ITGAE	A	3	3
KRT222	125113	broad.mit.edu	36	17	36066319	36066319	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36066319C>T	uc002hvc.2	-	c.749G>A	c.(748-750)CGA>CAA	p.R250Q	KRT222_uc002hvb.2_Missense_Mutation_p.R210Q	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	truncated type I keratin KA21	250						intermediate filament	structural molecule activity			central_nervous_system(1)	1														0.20398	79.685303	96.02134	41	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36066319	36066319	8774	17	C	T	T	31	31	KRT222	T	1	1
KRT25	147183	broad.mit.edu	36	17	36161049	36161049	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36161049G>A	uc002hve.1	-	c.725C>T	c.(724-726)GCA>GTA	p.A242V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	242	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)												0.20625	63.675006	76.487283	33	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36161049	36161049	8777	17	G	A	A	46	46	KRT25	A	2	2
KRT25	147183	broad.mit.edu	36	17	36163777	36163777	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36163777G>A	uc002hve.1	-	c.530C>T	c.(529-531)GCT>GTT	p.A177V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	177	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)												0.252101	142.588533	155.87309	60	178	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36163777	36163777	8777	17	G	A	A	34	34	KRT25	A	2	2
KRT25	147183	broad.mit.edu	36	17	36164202	36164202	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36164202G>A	uc002hve.1	-	c.474C>T	c.(472-474)ATC>ATT	p.I158I		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	158	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)												0.474227	267.078851	267.191364	92	102	GG		KEEP	---	---	---	---	capture			Silent	SNP	36164202	36164202	8777	17	G	A	A	37	37	KRT25	A	1	1
KRT28	162605	broad.mit.edu	36	17	36202258	36202258	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36202258C>A	uc002hvh.1	-	c.1342G>T	c.(1342-1344)GAA>TAA	p.E448*		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	448	Tail.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				Melanoma(19;789 869 15380 26882 39836)								0.254237	65.884151	72.360519	30	88	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	36202258	36202258	8780	17	C	A	A	32	32	KRT28	A	5	3
KRT28	162605	broad.mit.edu	36	17	36206812	36206812	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36206812G>A	uc002hvh.1	-	c.860C>T	c.(859-861)TCG>TTG	p.S287L		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	287	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				Melanoma(19;789 869 15380 26882 39836)								0.246753	83.182098	92.170285	38	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36206812	36206812	8780	17	G	A	A	37	37	KRT28	A	1	1
KRT10	3858	broad.mit.edu	36	17	36231836	36231836	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36231836G>A	uc002hvi.1	-	c.528C>T	c.(526-528)GGC>GGT	p.G176G	KRT10_uc010cxd.1_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	176	Coil 1A.|Rod.|Gly-rich.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)												0.415459	443.264868	445.860996	172	242	GG		KEEP	---	---	---	---	capture			Silent	SNP	36231836	36231836	8763	17	G	A	A	46	46	KRT10	A	2	2
KRT10	3858	broad.mit.edu	36	17	36232117	36232117	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36232117C>A	uc002hvi.1	-	c.247G>T	c.(247-249)GGT>TGT	p.G83C	KRT10_uc010cxd.1_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	83	Head.|Gly-rich.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)												0.224806	177.99315	204.953602	87	300	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36232117	36232117	8763	17	C	A	A	24	24	KRT10	A	3	3
ITGAE	3682	broad.mit.edu	36	17	3627703	3627703	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3627703C>T	uc002fwo.2	-	c.35G>A	c.(34-36)AGC>AAC	p.S12N		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	12					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4						NSCLC(182;635 2928 8995 38788)				37				0.409722	167.720139	168.738346	59	85	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	Missense_Mutation	SNP	3627703	3627703	8189	17	C	T	T	26	26	ITGAE	T	2	2
KRT20	54474	broad.mit.edu	36	17	36294619	36294619	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36294619G>A	uc002hvl.1	-	c.345C>T	c.(343-345)CGC>CGT	p.R115R		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	115	Rod.|Linker 1.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)	2		Breast(137;0.000301)|Ovarian(249;0.15)												0.489051	188.309326	188.323822	67	70	GG		KEEP	---	---	---	---	capture			Silent	SNP	36294619	36294619	8773	17	G	A	A	38	38	KRT20	A	1	1
KRT23	25984	broad.mit.edu	36	17	36334258	36334258	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36334258C>A	uc002hvm.1	-	c.1166G>T	c.(1165-1167)AGC>ATC	p.S389I	KRT23_uc010cxf.1_Missense_Mutation_p.S176I	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	389	Rod-like helical tail.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)												0.157895	30.770417	43.499386	18	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36334258	36334258	8775	17	C	A	A	28	28	KRT23	A	3	3
KRT23	25984	broad.mit.edu	36	17	36338257	36338257	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36338257C>A	uc002hvm.1	-	c.765G>T	c.(763-765)AAG>AAT	p.K255N	KRT23_uc010cxf.1_Missense_Mutation_p.K42N|KRT23_uc010cxg.1_Missense_Mutation_p.K255N|KRT23_uc002hvn.1_Missense_Mutation_p.K255N	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	255	Rod.|Coil 2.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)												0.165165	183.805574	254.724217	110	556	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36338257	36338257	8775	17	C	A	A	28	28	KRT23	A	3	3
KRT23	25984	broad.mit.edu	36	17	36346379	36346379	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36346379C>A	uc002hvm.1	-	c.3G>T	c.(1-3)ATG>ATT	p.M1I	KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.1_Missense_Mutation_p.M1I|KRT23_uc002hvn.1_Missense_Mutation_p.M1I	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	1	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)												0.381443	98.945226	100.14318	37	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36346379	36346379	8775	17	C	A	A	29	29	KRT23	A	3	3
KRTAP4-4	84616	broad.mit.edu	36	17	36570416	36570416	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36570416C>A	uc002hwc.1	-	c.54G>T	c.(52-54)GAG>GAT	p.E18D		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	18	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament					0		Breast(137;0.000496)												0.214286	84.857006	100.700175	45	165	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(17;0.000449)		Missense_Mutation	SNP	36570416	36570416	8875	17	C	A	A	32	32	KRTAP4-4	A	3	3
KRTAP4-2	85291	broad.mit.edu	36	17	36587928	36587928	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36587928A>G	uc002hwd.1	-	c.15T>C	c.(13-15)TGT>TGC	p.C5C		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	5	1.|20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament					0		Breast(137;0.000496)												0.191781	101.936302	121.360153	42	177	AA		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(17;0.000449)		Silent	SNP	36587928	36587928	8873	17	A	G	G	2	2	KRTAP4-2	G	4	4
C17orf85	55421	broad.mit.edu	36	17	3663230	3663230	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3663230C>T	uc010ckl.1	-	c.1720G>A	c.(1720-1722)GAC>AAC	p.D574N	C17orf85_uc002fwr.2_Missense_Mutation_p.D284N|C17orf85_uc002fwq.2_Missense_Mutation_p.D294N	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	574							nucleotide binding				0														0.42735	417.978894	419.596752	150	201	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	Missense_Mutation	SNP	3663230	3663230	1946	17	C	T	T	31	31	C17orf85	T	1	1
KRT33B	3884	broad.mit.edu	36	17	36774999	36774999	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36774999C>T	uc002hwl.1	-	c.830G>A	c.(829-831)CGC>CAC	p.R277H		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	277	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)												0.246057	171.449093	190.030778	78	239	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36774999	36774999	8785	17	C	T	T	27	27	KRT33B	T	1	1
KRT33B	3884	broad.mit.edu	36	17	36775241	36775241	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36775241C>T	uc002hwl.1	-	c.679G>A	c.(679-681)GAG>AAG	p.E227K		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	227	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)												0.233083	66.354058	75.035324	31	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36775241	36775241	8785	17	C	T	T	31	31	KRT33B	T	1	1
KRT34	3885	broad.mit.edu	36	17	36789510	36789510	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36789510C>T	uc002hwm.1	-	c.715_splice	c.e4-1	p.E239_splice		NM_021013	NP_066293			keratin 34						epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)												0.170455	30.467729	39.509101	15	73	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	36789510	36789510	8786	17	C	T	T	24	24	KRT34	T	5	2
KRT31	3881	broad.mit.edu	36	17	36806982	36806982	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36806982C>A	uc002hwn.1	-	c.336G>T	c.(334-336)GAG>GAT	p.E112D	KRT31_uc010cxn.1_Missense_Mutation_p.E112D	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	112	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)												0.418803	137.149255	137.823547	49	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36806982	36806982	8782	17	C	A	A	28	28	KRT31	A	3	3
KRT37	8688	broad.mit.edu	36	17	36831959	36831959	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36831959C>T	uc002hwp.1	-	c.908G>A	c.(907-909)AGC>AAC	p.S303N		NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	303	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.000496)												0.413502	266.310503	267.855896	98	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36831959	36831959	8789	17	C	T	T	28	28	KRT37	T	2	2
KRT37	8688	broad.mit.edu	36	17	36834218	36834218	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36834218G>A	uc002hwp.1	-	c.84C>T	c.(82-84)ATC>ATT	p.I28I		NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	28	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.000496)												0.403141	201.128037	202.695311	77	114	GG		KEEP	---	---	---	---	capture			Silent	SNP	36834218	36834218	8789	17	G	A	A	37	37	KRT37	A	1	1
KRT38	8687	broad.mit.edu	36	17	36849996	36849996	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36849996G>A	uc002hwq.1	-	c.518C>T	c.(517-519)GCC>GTC	p.A173V		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	173	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.000496)												0.477273	119.336821	119.376764	42	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36849996	36849996	8790	17	G	A	A	42	42	KRT38	A	2	2
KRT32	3882	broad.mit.edu	36	17	36875667	36875667	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36875667C>T	uc002hwr.1	-	c.592G>A	c.(592-594)GAC>AAC	p.D198N		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	198	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)												0.395062	167.355109	168.917561	64	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36875667	36875667	8783	17	C	T	T	31	31	KRT32	T	1	1
KRT36	8689	broad.mit.edu	36	17	36897385	36897385	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36897385C>T	uc002hwt.1	-	c.830G>A	c.(829-831)CGC>CAC	p.R277H		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	277	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)												0.231076	125.038547	141.662235	58	193	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36897385	36897385	8788	17	C	T	T	27	27	KRT36	T	1	1
KRT9	3857	broad.mit.edu	36	17	36978013	36978013	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36978013G>T	uc002hxe.2	-	c.1321C>A	c.(1321-1323)CTC>ATC	p.L441I		NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	441	Rod.|Coil 2.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)												0.157895	43.720238	62.803965	27	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36978013	36978013	8816	17	G	T	T	34	34	KRT9	T	3	3
KRT9	3857	broad.mit.edu	36	17	36978123	36978123	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36978123C>T	uc002hxe.2	-	c.1211G>A	c.(1210-1212)CGC>CAC	p.R404H		NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	404	Rod.|Coil 2.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)												0.270642	130.30928	140.670572	59	159	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36978123	36978123	8816	17	C	T	T	27	27	KRT9	T	1	1
KRT9	3857	broad.mit.edu	36	17	36978382	36978382	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36978382A>G	uc002hxe.2	-	c.1074T>C	c.(1072-1074)AGT>AGC	p.S358S		NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	358	Rod.|Coil 2.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)												0.432258	1118.581325	1121.666408	335	440	AA		KEEP	---	---	---	---	capture			Silent	SNP	36978382	36978382	8816	17	A	G	G	14	14	KRT9	G	4	4
KRT14	3861	broad.mit.edu	36	17	36996504	36996504	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36996504C>T	uc002hxf.1	-	c.109G>A	c.(109-111)GGA>AGA	p.G37R	KRT14_uc010cxp.1_Missense_Mutation_p.G37R	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	37	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)												0.5625	25.278582	25.334085	9	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36996504	36996504	8766	17	C	T	T	23	23	KRT14	T	1	1
KRT16	3868	broad.mit.edu	36	17	37020315	37020315	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37020315C>A	uc002hxg.2	-	c.1074G>T	c.(1072-1074)GAG>GAT	p.E358D		NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	358	Rod.|Coil 2.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000307)												0.237805	81.328288	91.642395	39	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37020315	37020315	8768	17	C	A	A	32	32	KRT16	A	3	3
KRT16	3868	broad.mit.edu	36	17	37021269	37021269	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37021269C>T	uc002hxg.2	-	c.625G>A	c.(625-627)GAA>AAA	p.E209K		NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	209	Coil 1B.|Rod.			HELA -> ARTG (in Ref. 1; AAA59460).	cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000307)												0.472441	165.166955	165.25198	60	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37021269	37021269	8768	17	C	T	T	29	29	KRT16	T	2	2
FKBP10	60681	broad.mit.edu	36	17	37231483	37231483	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37231483C>T	uc002hxv.2	+	c.1451C>T	c.(1450-1452)TCC>TTC	p.S484F	FKBP10_uc002hxw.1_Missense_Mutation_p.S248F	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	484	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)												0.404878	226.572665	228.196723	83	122	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.148)	Missense_Mutation	SNP	37231483	37231483	6140	17	C	T	T	30	30	FKBP10	T	2	2
KLHL10	317719	broad.mit.edu	36	17	37251770	37251770	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37251770A>G	uc010cxr.1	+	c.364A>G	c.(364-366)ATG>GTG	p.M122V		NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	122						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)												0.242718	123.156171	135.587368	50	156	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37251770	37251770	8678	17	A	G	G	8	8	KLHL10	G	4	4
ACLY	47	broad.mit.edu	36	17	37278869	37278869	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37278869G>A	uc002hyi.1	-	c.3249C>T	c.(3247-3249)ATC>ATT	p.I1083I	ACLY_uc002hyg.1_Silent_p.I1029I|ACLY_uc002hyh.1_Silent_p.I1019I	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	1029					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				Colon(64;807 1396 15971 30971)								0.219277	194.460379	224.63576	91	324	GG		KEEP	---	---	---	---	capture			Silent	SNP	37278869	37278869	144	17	G	A	A	37	37	ACLY	A	1	1
ACLY	47	broad.mit.edu	36	17	37281605	37281605	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37281605G>A	uc002hyi.1	-	c.2962C>T	c.(2962-2964)CGG>TGG	p.R988W	ACLY_uc002hyg.1_Missense_Mutation_p.R934W|ACLY_uc002hyh.1_Missense_Mutation_p.R924W	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	934					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				Colon(64;807 1396 15971 30971)								0.40708	122.116577	122.971733	46	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37281605	37281605	144	17	G	A	A	37	37	ACLY	A	1	1
TTC25	83538	broad.mit.edu	36	17	37348461	37348461	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37348461G>A	uc002hyj.2	+	c.751G>A	c.(751-753)GAC>AAC	p.D251N	TTC25_uc010cxt.1_Non-coding_Transcript|TTC25_uc010cxs.1_Intron	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	251						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)												0.214744	136.545553	159.99873	67	245	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37348461	37348461	17247	17	G	A	A	41	41	TTC25	A	2	2
DNAJC7	7266	broad.mit.edu	36	17	37402776	37402776	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37402776A>G	uc002hyo.1	-	c.144T>C	c.(142-144)TGT>TGC	p.C48C	DNAJC7_uc010cxu.1_Silent_p.C2C|DNAJC7_uc010cxv.1_Silent_p.C2C|DNAJC7_uc002hyp.1_Silent_p.C2C|DNAJC7_uc010cxw.1_Non-coding_Transcript	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	58	TPR 1.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				Colon(63;618 1117 8600 10857 19751)								0.5	75.453146	75.453146	22	22	AA		KEEP	---	---	---	---	capture			Silent	SNP	37402776	37402776	4837	17	A	G	G	10	10	DNAJC7	G	4	4
DHX58	79132	broad.mit.edu	36	17	37507841	37507841	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37507841G>A	uc002hyw.2	-	c.1770C>T	c.(1768-1770)GTC>GTT	p.V590V	DHX58_uc002hyv.2_Non-coding_Transcript	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	590	RNA-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)										OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.449275	347.813451	348.438178	124	152	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.126)	Silent	SNP	37507841	37507841	4693	17	G	A	A	33	33	DHX58	A	2	2
DHX58	79132	broad.mit.edu	36	17	37516377	37516377	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37516377C>T	uc002hyw.2	-	c.451G>A	c.(451-453)GAA>AAA	p.E151K	DHX58_uc002hyv.2_Non-coding_Transcript	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	151	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)												0.26087	132.959566	143.672269	54	153	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.126)	Missense_Mutation	SNP	37516377	37516377	4693	17	C	T	T	32	32	DHX58	T	2	2
P2RX1	5023	broad.mit.edu	36	17	3754443	3754443	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3754443C>T	uc002fww.1	-	c.358_splice	c.e4-1	p.H120_splice		NM_002558	NP_002549			purinergic receptor P2X1						platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			ovary(1)	1														0.313725	43.680084	45.255737	16	35	CC		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	Splice_Site_SNP	SNP	3754443	3754443	11752	17	C	T	T	28	28	P2RX1	T	5	2
KCNH4	23415	broad.mit.edu	36	17	37569283	37569283	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37569283G>T	uc002hzb.1	-	c.2344C>A	c.(2344-2346)CTG>ATG	p.L782M		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	782	Cytoplasmic (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)				NSCLC(117;707 1703 2300 21308 31858)								0.525	59.973353	59.994976	21	19	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.126)	Missense_Mutation	SNP	37569283	37569283	8339	17	G	T	T	35	35	KCNH4	T	3	3
KCNH4	23415	broad.mit.edu	36	17	37575023	37575023	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37575023C>T	uc002hzb.1	-	c.1588G>A	c.(1588-1590)GAG>AAG	p.E530K		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	530	Cytoplasmic (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)				NSCLC(117;707 1703 2300 21308 31858)								0.360465	77.691589	79.169212	31	55	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.126)	Missense_Mutation	SNP	37575023	37575023	8339	17	C	T	T	31	31	KCNH4	T	1	1
KCNH4	23415	broad.mit.edu	36	17	37581667	37581667	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37581667C>T	uc002hzb.1	-	c.760G>A	c.(760-762)GAT>AAT	p.D254N		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	254	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)				NSCLC(117;707 1703 2300 21308 31858)								0.424125	288.389468	289.687062	109	148	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.126)	Missense_Mutation	SNP	37581667	37581667	8339	17	C	T	T	31	31	KCNH4	T	1	1
STAT5B	6777	broad.mit.edu	36	17	37622718	37622718	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37622718C>A	uc002hzh.1	-	c.1366G>T	c.(1366-1368)GTT>TTT	p.V456F		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	456					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)	5		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)			Dasatinib(DB01254)					288				0.19403	28.045292	33.891905	13	54	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.135)	Missense_Mutation	SNP	37622718	37622718	15789	17	C	A	A	18	18	STAT5B	A	3	3
STAT5A	6776	broad.mit.edu	36	17	37713174	37713174	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37713174G>A	uc002hzj.1	+	c.1813G>A	c.(1813-1815)GAC>AAC	p.D605N	STAT5A_uc010cya.1_Missense_Mutation_p.D605N|STAT5A_uc010cyb.1_Missense_Mutation_p.D574N|STAT5A_uc010cyc.1_Missense_Mutation_p.D575N|STAT5A_uc010cyd.1_Missense_Mutation_p.D93N|STAT5A_uc010cye.1_Missense_Mutation_p.D93N	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	605	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)								465				0.211538	45.723346	53.704294	22	82	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.128)	Missense_Mutation	SNP	37713174	37713174	15788	17	G	A	A	37	37	STAT5A	A	1	1
STAT5A	6776	broad.mit.edu	36	17	37713722	37713722	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37713722C>T	uc002hzj.1	+	c.1907C>T	c.(1906-1908)CCG>CTG	p.P636L	STAT5A_uc010cya.1_Missense_Mutation_p.P636L|STAT5A_uc010cyb.1_Missense_Mutation_p.P605L|STAT5A_uc010cyc.1_Missense_Mutation_p.P606L|STAT5A_uc010cyd.1_Missense_Mutation_p.P124L|STAT5A_uc010cye.1_Missense_Mutation_p.P124L	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	636	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)								465				0.439024	97.191749	97.456176	36	46	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.128)	Missense_Mutation	SNP	37713722	37713722	15788	17	C	T	T	27	27	STAT5A	T	1	1
ATP2A3	489	broad.mit.edu	36	17	3785291	3785291	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3785291C>T	uc002fwy.1	-	c.2554G>A	c.(2554-2556)GCC>ACC	p.A852T	ATP2A3_uc002fwx.1_Missense_Mutation_p.A852T|ATP2A3_uc002fwz.1_Missense_Mutation_p.A852T|ATP2A3_uc002fxa.1_Missense_Mutation_p.A852T|ATP2A3_uc002fxb.1_Missense_Mutation_p.A852T|ATP2A3_uc002fxc.1_Missense_Mutation_p.A852T|ATP2A3_uc002fxd.1_Missense_Mutation_p.A852T	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform e	852	Lumenal (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						GBM(32;29 774 15719 37967)						OREG0024094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.135802	10.378185	20.798102	11	70	CC		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	Missense_Mutation	SNP	3785291	3785291	1157	17	C	T	T	27	27	ATP2A3	T	1	1
ATP6V0A1	535	broad.mit.edu	36	17	37906758	37906758	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37906758C>A	uc002hzs.1	+	c.1935C>A	c.(1933-1935)TTC>TTA	p.F645L	ATP6V0A1_uc002hzq.1_Missense_Mutation_p.F638L|ATP6V0A1_uc002hzr.1_Missense_Mutation_p.F638L|ATP6V0A1_uc010cyg.1_Missense_Mutation_p.F284L	NM_005177	NP_005168	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	638	Helical; (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)												0.188406	45.756755	58.311303	26	112	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.137)	Missense_Mutation	SNP	37906758	37906758	1187	17	C	A	A	30	30	ATP6V0A1	A	3	3
HSD17B1	3292	broad.mit.edu	36	17	37959393	37959393	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37959393C>T	uc010cyi.1	+	c.594C>T	c.(592-594)TGC>TGT	p.C198C	HSD17B1_uc002hzw.1_Silent_p.C167C|HSD17B1_uc002hzx.1_Silent_p.C167C	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	167					estrogen biosynthetic process|oxidation-reduction process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)			NADH(DB00157)									0.425926	62.515241	62.773647	23	31	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.129)	Silent	SNP	37959393	37959393	7673	17	C	T	T	27	27	HSD17B1	T	1	1
COASY	80347	broad.mit.edu	36	17	37968805	37968805	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37968805C>T	uc010cyj.1	+	c.726C>T	c.(724-726)GTC>GTT	p.V242V	COASY_uc002hzz.1_Silent_p.V213V|COASY_uc002iaa.1_Silent_p.V213V|COASY_uc002iab.1_5'UTR|COASY_uc002iad.1_Silent_p.V213V|COASY_uc002iac.1_Silent_p.V213V|COASY_uc002iae.1_5'Flank	NM_025233	NP_079509	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	213	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)												0.478022	244.603382	244.680179	87	95	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.13)	Silent	SNP	37968805	37968805	3790	17	C	T	T	31	31	COASY	T	1	1
ATP2A3	489	broad.mit.edu	36	17	3797444	3797444	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3797444G>A	uc002fwy.1	-	c.1085C>T	c.(1084-1086)TCT>TTT	p.S362F	ATP2A3_uc002fwx.1_Missense_Mutation_p.S362F|ATP2A3_uc002fwz.1_Missense_Mutation_p.S362F|ATP2A3_uc002fxa.1_Missense_Mutation_p.S362F|ATP2A3_uc002fxb.1_Missense_Mutation_p.S362F|ATP2A3_uc002fxc.1_Missense_Mutation_p.S362F|ATP2A3_uc002fxd.1_Missense_Mutation_p.S362F	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform e	362	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						GBM(32;29 774 15719 37967)								0.206897	53.029688	62.271172	24	92	GG		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	Missense_Mutation	SNP	3797444	3797444	1157	17	G	A	A	33	33	ATP2A3	A	2	2
ATP2A3	489	broad.mit.edu	36	17	3797766	3797766	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3797766C>T	uc002fwy.1	-	c.763G>A	c.(763-765)GAG>AAG	p.E255K	ATP2A3_uc002fwx.1_Missense_Mutation_p.E255K|ATP2A3_uc002fwz.1_Missense_Mutation_p.E255K|ATP2A3_uc002fxa.1_Missense_Mutation_p.E255K|ATP2A3_uc002fxb.1_Missense_Mutation_p.E255K|ATP2A3_uc002fxc.1_Missense_Mutation_p.E255K|ATP2A3_uc002fxd.1_Missense_Mutation_p.E255K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform e	255	Helical; Name=3; (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						GBM(32;29 774 15719 37967)								0.412371	108.981563	109.631774	40	57	CC		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	Missense_Mutation	SNP	3797766	3797766	1157	17	C	T	T	31	31	ATP2A3	T	1	1
TUBG1	7283	broad.mit.edu	36	17	38016102	38016102	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38016102G>T	uc002ian.1	+	c.298G>T	c.(298-300)GCT>TCT	p.A100S	FAM134C_uc002ial.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_5'UTR	NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	100					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)				Colon(20;114 698 11420 22864)								0.348101	140.667386	143.889253	55	103	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.129)	Missense_Mutation	SNP	38016102	38016102	17319	17	G	T	T	34	34	TUBG1	T	3	3
ATP2A3	489	broad.mit.edu	36	17	3801705	3801705	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3801705G>A	uc002fwy.1	-	c.243C>T	c.(241-243)GGC>GGT	p.G81G	ATP2A3_uc002fwx.1_Silent_p.G81G|ATP2A3_uc002fwz.1_Silent_p.G81G|ATP2A3_uc002fxa.1_Silent_p.G81G|ATP2A3_uc002fxb.1_Silent_p.G81G|ATP2A3_uc002fxc.1_Silent_p.G81G|ATP2A3_uc002fxd.1_Silent_p.G81G	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform e	81	Lumenal (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						GBM(32;29 774 15719 37967)								0.1875	9.635544	12.561412	6	26	GG		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	Silent	SNP	3801705	3801705	1157	17	G	A	A	38	38	ATP2A3	A	1	1
TUBG1	7283	broad.mit.edu	36	17	38018047	38018047	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38018047A>G	uc002ian.1	+	c.476A>G	c.(475-477)GAC>GGC	p.D159G	FAM134C_uc010cyk.1_5'Flank	NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	159					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)				Colon(20;114 698 11420 22864)								0.438017	516.906231	518.114979	159	204	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.129)	Missense_Mutation	SNP	38018047	38018047	17319	17	A	G	G	10	10	TUBG1	G	4	4
CNTNAP1	8506	broad.mit.edu	36	17	38093381	38093381	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38093381C>T	uc002iay.1	+	c.1162C>T	c.(1162-1164)CGC>TGC	p.R388C		NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	388	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)	2		Breast(137;0.000143)												0.247573	113.23544	125.175782	51	155	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.143)	Missense_Mutation	SNP	38093381	38093381	3784	17	C	T	T	31	31	CNTNAP1	T	1	1
CNTNAP1	8506	broad.mit.edu	36	17	38094441	38094441	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38094441G>A	uc002iay.1	+	c.1478G>A	c.(1477-1479)CGA>CAA	p.R493Q		NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	493	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)	2		Breast(137;0.000143)												0.395973	154.386221	155.798685	59	90	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.143)	Missense_Mutation	SNP	38094441	38094441	3784	17	G	A	A	37	37	CNTNAP1	A	1	1
EZH1	2145	broad.mit.edu	36	17	38115456	38115456	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38115456G>A	uc002iaz.1	-	c.1427C>T	c.(1426-1428)TCA>TTA	p.S476L	EZH1_uc002iba.1_Missense_Mutation_p.S467L|EZH1_uc010cyp.1_Missense_Mutation_p.S377L|EZH1_uc010cyq.1_Missense_Mutation_p.S393L|EZH1_uc010cyo.1_Missense_Mutation_p.S139L|EZH1_uc010cyr.1_Missense_Mutation_p.S128L	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	476					anatomical structure morphogenesis|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)												0.233766	117.326042	132.318571	54	177	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0784)	Missense_Mutation	SNP	38115456	38115456	5527	17	G	A	A	45	45	EZH1	A	2	2
EZH1	2145	broad.mit.edu	36	17	38134402	38134402	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38134402T>G	uc002iaz.1	-	c.84A>C	c.(82-84)CAA>CAC	p.Q28H	EZH1_uc002iba.1_Missense_Mutation_p.Q28H|EZH1_uc010cyp.1_5'UTR|EZH1_uc010cyq.1_Missense_Mutation_p.Q28H|EZH1_uc010cys.1_Missense_Mutation_p.Q28H	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	28					anatomical structure morphogenesis|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)												0.154386	88.06637	120.71803	44	241	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0784)	Missense_Mutation	SNP	38134402	38134402	5527	17	T	G	G	60	60	EZH1	G	4	4
WNK4	65266	broad.mit.edu	36	17	38199166	38199166	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38199166C>T	uc002ibj.1	+	c.2188C>T	c.(2188-2190)CGA>TGA	p.R730*	WNK4_uc002ibk.1_Nonsense_Mutation_p.R502*	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	730					intracellular protein kinase cascade|protein phosphorylation	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)				Esophageal Squamous(6;201 374 4964 23855 42828)				263				0.485915	188.448233	188.473333	69	73	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0749)	Nonsense_Mutation	SNP	38199166	38199166	17954	17	C	T	T	27	27	WNK4	T	5	1
CNTD1	124817	broad.mit.edu	36	17	38211329	38211329	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38211329G>T	uc002ibm.2	+	c.481G>T	c.(481-483)GAA>TAA	p.E161*		NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	161	Cyclin N-terminal.										0		Breast(137;0.00104)												0.204301	69.210235	84.351184	38	148	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0749)	Nonsense_Mutation	SNP	38211329	38211329	3773	17	G	T	T	33	33	CNTD1	T	5	3
CNTD1	124817	broad.mit.edu	36	17	38214936	38214936	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38214936G>T	uc002ibm.2	+	c.850G>T	c.(850-852)GGT>TGT	p.G284C		NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	284											0		Breast(137;0.00104)												0.177215	101.38924	132.42477	56	260	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0749)	Missense_Mutation	SNP	38214936	38214936	3773	17	G	T	T	47	47	CNTD1	T	3	3
AOC2	314	broad.mit.edu	36	17	38254841	38254841	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38254841A>G	uc002ibu.1	+	c.1801A>G	c.(1801-1803)ATC>GTC	p.I601V	AOC2_uc002ibt.1_Intron|AOC3_uc002ibv.1_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	601					catecholamine metabolic process|oxidation-reduction process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)												0.18806	154.154666	184.647335	63	272	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.156)	Missense_Mutation	SNP	38254841	38254841	737	17	A	G	G	4	4	AOC2	G	4	4
AOC3	8639	broad.mit.edu	36	17	38256903	38256903	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38256903T>C	uc002ibv.1	+	c.17T>C	c.(16-18)ATC>ACC	p.I6T		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	6	Helical; Signal-anchor for type II membrane protein; (Potential).				amine metabolic process|cell adhesion|inflammatory response|oxidation-reduction process	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)	3		Breast(137;0.000143)			Hydralazine(DB01275)|Phenelzine(DB00780)	NSCLC(3;192 220 10664 11501 16477)								0.480892	489.723512	489.821651	151	163	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.156)	Missense_Mutation	SNP	38256903	38256903	738	17	T	C	C	50	50	AOC3	C	4	4
G6PC	2538	broad.mit.edu	36	17	38316553	38316553	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38316553G>A	uc002icb.1	+	c.658G>A	c.(658-660)GCC>ACC	p.A220T		NM_000151	NP_000142	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	220	Helical; (Potential).				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			ovary(1)|breast(1)|kidney(1)	3		Breast(137;0.000143)												0.260638	107.636481	117.360683	49	139	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.113)	Missense_Mutation	SNP	38316553	38316553	6394	17	G	A	A	38	38	G6PC	A	1	1
AARSD1	80755	broad.mit.edu	36	17	38369714	38369714	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38369714C>A	uc002icf.1	-	c.628G>T	c.(628-630)GAA>TAA	p.E210*	AARSD1_uc002icc.1_Nonsense_Mutation_p.E36*|AARSD1_uc002icd.1_Nonsense_Mutation_p.E149*|AARSD1_uc002ice.1_Nonsense_Mutation_p.E119*|AARSD1_uc010cyu.1_Nonsense_Mutation_p.E36*	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	36					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)												0.195876	64.711223	81.473844	38	156	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.161)	Nonsense_Mutation	SNP	38369714	38369714	22	17	C	A	A	32	32	AARSD1	A	5	3
RUNDC1	146923	broad.mit.edu	36	17	38394893	38394893	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38394893G>T	uc002ici.1	+	c.667G>T	c.(667-669)GAT>TAT	p.D223Y		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	223	Potential.										0		Breast(137;0.00499)												0.181818	39.468597	50.986979	22	99	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.161)	Missense_Mutation	SNP	38394893	38394893	14222	17	G	T	T	33	33	RUNDC1	T	3	3
BRCA1	672	broad.mit.edu	36	17	38500371	38500371	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38500371T>C	uc002ict.1	-	c.703A>G	c.(703-705)AAT>GAT	p.N235D	BRCA1_uc002ico.1_Missense_Mutation_p.N235D|BRCA1_uc002icp.2_Missense_Mutation_p.N164D|BRCA1_uc002icq.1_Missense_Mutation_p.N235D|BRCA1_uc002icr.1_Missense_Mutation_p.N235D|BRCA1_uc002ics.1_5'UTR|BRCA1_uc002icu.1_Missense_Mutation_p.N235D|BRCA1_uc010cyx.1_Missense_Mutation_p.N188D|BRCA1_uc002icw.1_Missense_Mutation_p.N235D|BRCA1_uc002icv.1_Missense_Mutation_p.N235D|BRCA1_uc002icx.1_Intron|BRCA1_uc002icy.1_Missense_Mutation_p.N194D|BRCA1_uc002icz.1_Intron|BRCA1_uc002ida.1_Missense_Mutation_p.N194D|BRCA1_uc002idb.1_Missense_Mutation_p.N235D|BRCA1_uc002idc.1_Missense_Mutation_p.N234D|BRCA1_uc002idd.2_Missense_Mutation_p.N235D|BRCA1_uc002ide.1_Missense_Mutation_p.N66D|BRCA1_uc010cyy.1_Missense_Mutation_p.N235D|BRCA1_uc010cyz.1_Missense_Mutation_p.N188D|BRCA1_uc010cza.1_Missense_Mutation_p.N209D	NM_007296	NP_009227	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	235					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of protein ubiquitination|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription activator activity|transcription coactivator activity|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(17)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)	45		Breast(137;0.000717)								296	TCGA Ovarian(2;0.000030)			0.288136	52.553614	54.926456	17	42	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.126)	Missense_Mutation	SNP	38500371	38500371	1529	17	T	C	C	64	64	BRCA1	C	4	4
NBR1	4077	broad.mit.edu	36	17	38596173	38596173	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38596173C>A	uc002idj.1	+	c.717C>A	c.(715-717)ATC>ATA	p.I239I	NBR1_uc002idk.1_Silent_p.I239I|NBR1_uc002idl.1_Silent_p.I239I|NBR1_uc010czd.1_5'Flank|NBR1_uc002idm.1_Silent_p.I48I	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	239	ZZ-type.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)												0.269231	15.711	16.962412	7	19	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0934)	Silent	SNP	38596173	38596173	10599	17	C	A	A	32	32	NBR1	A	3	3
ZZEF1	23140	broad.mit.edu	36	17	3867962	3867962	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3867962G>A	uc002fxe.1	-	c.7558C>T	c.(7558-7560)CGG>TGG	p.R2520W	ZZEF1_uc002fxg.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2520					regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	calcium ion binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.248521	94.480656	104.195568	42	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3867962	3867962	18861	17	G	A	A	38	38	ZZEF1	A	1	1
DHX8	1659	broad.mit.edu	36	17	38917052	38917052	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38917052C>T	uc002idu.1	+	c.121C>T	c.(121-123)CAC>TAC	p.H41Y		NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	41					nuclear mRNA splicing, via spliceosome	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)				NSCLC(56;1548 1661 49258 49987)						OREG0024434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.168539	74.587651	102.394589	45	222	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.08)	Missense_Mutation	SNP	38917052	38917052	4694	17	C	T	T	29	29	DHX8	T	2	2
DHX8	1659	broad.mit.edu	36	17	38923301	38923301	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38923301A>G	uc002idu.1	+	c.251A>G	c.(250-252)AAC>AGC	p.N84S		NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	84					nuclear mRNA splicing, via spliceosome	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)				NSCLC(56;1548 1661 49258 49987)								0.389831	154.635628	155.886127	46	72	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.08)	Missense_Mutation	SNP	38923301	38923301	4694	17	A	G	G	2	2	DHX8	G	4	4
DHX8	1659	broad.mit.edu	36	17	38956657	38956657	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38956657G>T	uc002idu.1	+	c.3579G>T	c.(3577-3579)AAG>AAT	p.K1193N		NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1193					nuclear mRNA splicing, via spliceosome	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)				NSCLC(56;1548 1661 49258 49987)								0.183673	44.626525	58.446663	27	120	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.08)	Missense_Mutation	SNP	38956657	38956657	4694	17	G	T	T	33	33	DHX8	T	3	3
SOST	50964	broad.mit.edu	36	17	39191583	39191583	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39191583A>C	uc002iec.1	-	c.53T>G	c.(52-54)TTC>TGC	p.F18C		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	18					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding				0		Breast(137;0.00725)								17				0.158192	56.199606	75.904796	28	149	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	Missense_Mutation	SNP	39191583	39191583	15438	17	A	C	C	9	9	SOST	C	4	4
MPP3	4356	broad.mit.edu	36	17	39264487	39264487	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39264487A>C	uc002ieh.1	-	c.185T>G	c.(184-186)GTT>GGT	p.V62G	MPP3_uc002iei.2_Missense_Mutation_p.V37G|MPP3_uc002iej.1_Non-coding_Transcript|MPP3_uc010czi.1_Missense_Mutation_p.V37G|MPP3_uc010czj.1_Missense_Mutation_p.V37G	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	37	L27 1.			V -> D (in Ref. 1; AAB36964).	signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)	1		Breast(137;0.00394)												0.36646	193.302909	195.819162	59	102	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.119)	Missense_Mutation	SNP	39264487	39264487	10127	17	A	C	C	2	2	MPP3	C	4	4
CD300LG	146894	broad.mit.edu	36	17	39286836	39286836	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39286836C>T	uc002iem.1	+	c.617C>T	c.(616-618)GCG>GTG	p.A206V	CD300LG_uc002iel.1_Intron|CD300LG_uc010czk.1_Missense_Mutation_p.A206V|CD300LG_uc010czl.1_Intron	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	206	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity				0		Breast(137;0.0199)												0.144509	34.110096	55.116827	25	148	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.115)	Missense_Mutation	SNP	39286836	39286836	3130	17	C	T	T	27	27	CD300LG	T	1	1
CD300LG	146894	broad.mit.edu	36	17	39286935	39286935	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39286935C>T	uc002iem.1	+	c.716C>T	c.(715-717)CCC>CTC	p.P239L	CD300LG_uc002iel.1_Missense_Mutation_p.P154L|CD300LG_uc010czk.1_Missense_Mutation_p.P239L|CD300LG_uc010czl.1_Missense_Mutation_p.P154L	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	239	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity				0		Breast(137;0.0199)												0.197368	27.977443	34.467856	15	61	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.115)	Missense_Mutation	SNP	39286935	39286935	3130	17	C	T	T	22	22	CD300LG	T	2	2
CD300LG	146894	broad.mit.edu	36	17	39294787	39294787	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39294787G>A	uc002iem.1	+	c.981G>A	c.(979-981)TCG>TCA	p.S327S		NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	327	Cytoplasmic (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity				0		Breast(137;0.0199)												0.2	15.97477	19.325537	8	32	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.115)	Silent	SNP	39294787	39294787	3130	17	G	A	A	37	37	CD300LG	A	1	1
MPP2	4355	broad.mit.edu	36	17	39315245	39315245	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39315245C>T	uc002ien.1	-	c.665G>A	c.(664-666)CGC>CAC	p.R222H	MPP2_uc002ieo.1_Missense_Mutation_p.R205H|MPP2_uc010czm.1_Missense_Mutation_p.R188H	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	229	PDZ.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)												0.217105	65.709351	76.919155	33	119	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.12)	Missense_Mutation	SNP	39315245	39315245	10126	17	C	T	T	27	27	MPP2	T	1	1
G6PC3	92579	broad.mit.edu	36	17	39507928	39507928	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39507928G>A	uc002iex.1	+	c.482G>A	c.(481-483)CGA>CAA	p.R161Q	G6PC3_uc002iey.1_Missense_Mutation_p.R36Q|G6PC3_uc010czo.1_Missense_Mutation_p.R17Q|G6PC3_uc002iez.1_Missense_Mutation_p.R36Q|G6PC3_uc002ifb.1_Missense_Mutation_p.R36Q|G6PC3_uc002ifc.1_Intron	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN	glucose-6-phosphatase catalytic subunit 3	161	Helical; (Potential).	Substrate (Potential).			gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity				0		Breast(137;0.00637)|Prostate(33;0.0313)												0.20274	138.807417	168.749144	74	291	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.113)	Missense_Mutation	SNP	39507928	39507928	6396	17	G	A	A	37	37	G6PC3	A	1	1
HDAC5	10014	broad.mit.edu	36	17	39520513	39520513	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39520513C>T	uc002iff.1	-	c.1680G>A	c.(1678-1680)CAG>CAA	p.Q560Q	HDAC5_uc002ifd.1_Silent_p.Q559Q|HDAC5_uc002ife.1_Silent_p.Q559Q|HDAC5_uc010czp.1_Silent_p.Q559Q|HDAC5_uc002ifg.1_5'Flank|HDAC5_uc002ifh.1_Silent_p.Q215Q	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 3	559					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of myotube differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)												0.459584	566.03495	566.65476	199	234	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.118)	Silent	SNP	39520513	39520513	7293	17	C	T	T	28	28	HDAC5	T	2	2
HDAC5	10014	broad.mit.edu	36	17	39526062	39526062	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39526062C>T	uc002iff.1	-	c.568G>A	c.(568-570)GAA>AAA	p.E190K	HDAC5_uc002ifd.1_Missense_Mutation_p.E189K|HDAC5_uc002ife.1_Missense_Mutation_p.E189K|HDAC5_uc010czp.1_Missense_Mutation_p.E189K|HDAC5_uc002ifh.1_5'Flank	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 3	189					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of myotube differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)												0.446809	119.275171	119.499417	42	52	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.118)	Missense_Mutation	SNP	39526062	39526062	7293	17	C	T	T	30	30	HDAC5	T	2	2
ZZEF1	23140	broad.mit.edu	36	17	3954832	3954832	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3954832C>A	uc002fxe.1	-	c.1417G>T	c.(1417-1419)GAA>TAA	p.E473*	ZZEF1_uc002fxk.1_Nonsense_Mutation_p.E473*	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	473					regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	calcium ion binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.417476	112.900345	113.513434	43	60	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	3954832	3954832	18861	17	C	A	A	32	32	ZZEF1	A	5	3
C17orf53	78995	broad.mit.edu	36	17	39580818	39580818	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39580818C>T	uc002ifi.1	+	c.121C>T	c.(121-123)CGC>TGC	p.R41C	C17orf53_uc010czq.1_Missense_Mutation_p.R41C|C17orf53_uc002ifj.1_Missense_Mutation_p.R41C|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	41											0		Breast(137;0.0364)|Prostate(33;0.0376)												0.425837	229.434327	230.435415	89	120	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.114)	Missense_Mutation	SNP	39580818	39580818	1919	17	C	T	T	27	27	C17orf53	T	1	1
C17orf53	78995	broad.mit.edu	36	17	39583936	39583936	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39583936G>T	uc002ifi.1	+	c.1306G>T	c.(1306-1308)GAG>TAG	p.E436*	C17orf53_uc010czq.1_Nonsense_Mutation_p.E436*|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	436											0		Breast(137;0.0364)|Prostate(33;0.0376)												0.352113	61.94554	63.318562	25	46	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.114)	Nonsense_Mutation	SNP	39583936	39583936	1919	17	G	T	T	33	33	C17orf53	T	5	3
TMUB2	79089	broad.mit.edu	36	17	39622155	39622155	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39622155G>A	uc002ifo.1	+	c.275G>A	c.(274-276)GGC>GAC	p.G92D	C17orf65_uc002ifn.1_5'Flank|TMUB2_uc002ifp.1_Missense_Mutation_p.G72D|TMUB2_uc002ifq.1_Missense_Mutation_p.G92D|TMUB2_uc002ifr.1_Missense_Mutation_p.G72D|TMUB2_uc002ifs.1_Intron|TMUB2_uc002ift.1_Missense_Mutation_p.G72D|TMUB2_uc002ifu.1_Missense_Mutation_p.G72D|TMUB2_uc002ifv.1_Missense_Mutation_p.G72D|TMUB2_uc002ifw.1_Missense_Mutation_p.G72D|TMUB2_uc002ifx.1_Missense_Mutation_p.G72D|TMUB2_uc002ify.1_Non-coding_Transcript	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain	92						integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)												0.379182	258.147188	261.565871	102	167	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.113)	Missense_Mutation	SNP	39622155	39622155	16806	17	G	A	A	42	42	TMUB2	A	2	2
ATXN7L3	56970	broad.mit.edu	36	17	39627553	39627553	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39627553G>A	uc002ifz.1	-	c.774C>T	c.(772-774)GTC>GTT	p.V258V	ATXN7L3_uc002iga.1_Silent_p.V251V	NM_020218	NP_064603	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform a	251	SCA7.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)												0.394231	111.689523	112.694863	41	63	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.113)	Silent	SNP	39627553	39627553	1238	17	G	A	A	37	37	ATXN7L3	A	1	1
ATXN7L3	56970	broad.mit.edu	36	17	39630604	39630604	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39630604G>A	uc002ifz.1	-	c.72C>T	c.(70-72)TAC>TAT	p.Y24Y	ATXN7L3_uc002iga.1_Silent_p.Y24Y	NM_020218	NP_064603	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform a	24					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)												0.222749	95.813912	110.7382	47	164	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.113)	Silent	SNP	39630604	39630604	1238	17	G	A	A	40	40	ATXN7L3	A	1	1
UBTF	7343	broad.mit.edu	36	17	39649450	39649450	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39649450C>T	uc002igb.1	-	c.207G>A	c.(205-207)AAG>AAA	p.K69K	UBTF_uc002igc.1_Silent_p.K69K|UBTF_uc010czs.1_Silent_p.K69K|UBTF_uc002igd.1_Silent_p.K69K|UBTF_uc010czt.1_Silent_p.K69K|UBTF_uc002ige.2_Silent_p.K69K	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	69					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding|RNA polymerase I transcription factor activity				0		Breast(137;0.00765)|Prostate(33;0.0181)												0.448598	704.674671	705.913356	240	295	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.114)	Silent	SNP	39649450	39649450	17467	17	C	T	T	28	28	UBTF	T	2	2
SLC4A1	6521	broad.mit.edu	36	17	39686044	39686044	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39686044C>T	uc002igf.2	-	c.2279G>A	c.(2278-2280)CGG>CAG	p.R760Q		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	760	Membrane (anion exchange).		R -> Q (in SPH4; Prague II).|R -> W (in SPH4; Hradec Kralove).		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)												0.45977	245.787935	246.032217	80	94	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.115)	Missense_Mutation	SNP	39686044	39686044	15147	17	C	T	T	23	23	SLC4A1	T	1	1
SLC4A1	6521	broad.mit.edu	36	17	39690671	39690671	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39690671G>A	uc002igf.2	-	c.1313C>T	c.(1312-1314)TCG>TTG	p.S438L	SLC4A1_uc002igg.2_Missense_Mutation_p.S438L	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	438	Membrane (anion exchange).|Helical; (Potential).				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)												0.507812	177.943247	177.949631	65	63	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.115)	Missense_Mutation	SNP	39690671	39690671	15147	17	G	A	A	37	37	SLC4A1	A	1	1
GRN	2896	broad.mit.edu	36	17	39783201	39783201	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39783201C>T	uc002igp.1	+	c.429C>T	c.(427-429)GTC>GTT	p.V143V	GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'Flank	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	143					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|ovary(1)	3		Prostate(33;0.0181)												0.199052	165.663251	201.233783	84	338	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.189)	Silent	SNP	39783201	39783201	7083	17	C	T	T	31	31	GRN	T	1	1
ITGA2B	3674	broad.mit.edu	36	17	39817229	39817229	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39817229G>T	uc002igt.1	-	c.867C>A	c.(865-867)CCC>CCA	p.P289P		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	289	Extracellular (Potential).|FG-GAP 4.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)			Tirofiban(DB00775)									0.394161	144.511732	145.857435	54	83	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.191)	Silent	SNP	39817229	39817229	8180	17	G	T	T	47	47	ITGA2B	T	3	3
GPATCH8	23131	broad.mit.edu	36	17	39831484	39831484	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39831484C>A	uc002igw.1	-	c.3487G>T	c.(3487-3489)GAG>TAG	p.E1163*	GPATCH8_uc002igv.1_Nonsense_Mutation_p.E1085*	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1163						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)	3		Prostate(33;0.0181)												0.208589	190.198935	228.752541	102	387	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.206)	Nonsense_Mutation	SNP	39831484	39831484	6868	17	C	A	A	32	32	GPATCH8	A	5	3
FZD2	2535	broad.mit.edu	36	17	39991376	39991376	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39991376C>T	uc002igx.1	+	c.794C>T	c.(793-795)ACG>ATG	p.T265M		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2	265	Helical; Name=1; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of transcription regulator activity|positive regulation of transcription, DNA-dependent|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)	2		Prostate(33;0.0181)												0.160428	46.932123	67.464161	30	157	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.189)	Missense_Mutation	SNP	39991376	39991376	6381	17	C	T	T	19	19	FZD2	T	1	1
CYB5D2	124936	broad.mit.edu	36	17	4000002	4000002	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4000002G>A	uc002fxm.2	+	c.319G>A	c.(319-321)GAC>AAC	p.D107N	CYB5D2_uc010cko.1_5'UTR|CYB5D2_uc002fxl.2_5'UTR	NM_144611	NP_653212	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	107	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			large_intestine(2)|ovary(1)	3														0.440367	260.074916	260.74536	96	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4000002	4000002	4290	17	G	A	A	37	37	CYB5D2	A	1	1
CCDC43	124808	broad.mit.edu	36	17	40113478	40113478	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40113478C>T	uc002ihc.2	-	c.487_splice	c.e4+1	p.L163_splice	C17orf104_uc002ihb.1_Intron|CCDC43_uc010czw.1_Intron	NM_144609	NP_653210			coiled-coil domain containing 43 isoform 1												0		Prostate(33;0.0322)												0.239544	137.986188	154.282836	63	200	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	40113478	40113478	2938	17	C	T	T	19	19	CCDC43	T	5	1
ADAM11	4185	broad.mit.edu	36	17	40208161	40208161	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40208161C>A	uc002ihh.1	+	c.1276C>A	c.(1276-1278)CTG>ATG	p.L426M	ADAM11_uc002ihi.1_5'Flank	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	426	Extracellular (Potential).|Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)										OREG0024464	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.237668	108.46019	122.490146	53	170	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40208161	40208161	236	17	C	A	A	32	32	ADAM11	A	3	3
EFTUD2	9343	broad.mit.edu	36	17	40305448	40305448	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40305448C>A	uc002ihn.1	-	c.886G>T	c.(886-888)GAG>TAG	p.E296*		NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	296					nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				Ovarian(10;65 485 10258 29980 30707)								0.446886	341.18458	341.858552	122	151	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	40305448	40305448	5150	17	C	A	A	29	29	EFTUD2	A	5	3
ANKFY1	51479	broad.mit.edu	36	17	4033484	4033484	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4033484C>T	uc002fxn.1	-	c.2036G>A	c.(2035-2037)AGC>AAC	p.S679N	ANKFY1_uc002fxo.1_Missense_Mutation_p.S637N|ANKFY1_uc002fxp.1_Missense_Mutation_p.S636N|ANKFY1_uc010ckp.1_Missense_Mutation_p.S578N|ANKFY1_uc002fxq.1_Missense_Mutation_p.S637N	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	637	ANK 9.					endosome membrane	protein binding|zinc ion binding			ovary(2)	2														0.427778	210.352857	211.168766	77	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4033484	4033484	629	17	C	T	T	28	28	ANKFY1	T	2	2
CCDC103	388389	broad.mit.edu	36	17	40335310	40335310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40335310C>T	uc002iho.1	+	c.328C>T	c.(328-330)CGA>TGA	p.R110*	CCDC103_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	110										kidney(1)	1		Prostate(33;0.109)												0.193878	105.123392	130.827603	57	237	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	40335310	40335310	2858	17	C	T	T	27	27	CCDC103	T	5	1
CCDC103	388389	broad.mit.edu	36	17	40335647	40335647	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40335647C>A	uc002iho.1	+	c.665C>A	c.(664-666)TCT>TAT	p.S222Y	CCDC103_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	222										kidney(1)	1		Prostate(33;0.109)												0.194444	11.701656	14.841041	7	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40335647	40335647	2858	17	C	A	A	32	32	CCDC103	A	3	3
KIF18B	146909	broad.mit.edu	36	17	40367459	40367459	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40367459C>T	uc002ihu.1	-	c.629G>A	c.(628-630)CGC>CAC	p.R210H	KIF18B_uc002iht.1_5'Flank	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)												0.220339	27.049584	31.294996	13	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40367459	40367459	8592	17	C	T	T	27	27	KIF18B	T	1	1
KIF18B	146909	broad.mit.edu	36	17	40368969	40368969	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40368969C>T	uc002ihu.1	-	c.270G>A	c.(268-270)ACG>ACA	p.T90T		NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)												0.325301	64.991456	67.241833	27	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	40368969	40368969	8592	17	C	T	T	27	27	KIF18B	T	1	1
PLCD3	113026	broad.mit.edu	36	17	40546448	40546448	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40546448C>T	uc002iib.1	-	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	627	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)									0.571429	11.400442	11.431609	4	3	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40546448	40546448	12458	17	C	T	T	27	27	PLCD3	T	1	1
ACBD4	79777	broad.mit.edu	36	17	40570827	40570827	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40570827G>A	uc002iic.1	+	c.595G>A	c.(595-597)GCA>ACA	p.A199T	ACBD4_uc002iid.1_Silent_p.Q195Q|ACBD4_uc002iie.1_Silent_p.Q211Q|ACBD4_uc002iif.1_Missense_Mutation_p.A199T|ACBD4_uc010dae.1_Silent_p.Q133Q	NM_024722	NP_078998	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	199							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2														0.353982	106.066805	108.190499	40	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40570827	40570827	125	17	G	A	A	34	34	ACBD4	A	2	2
HEXIM2	124790	broad.mit.edu	36	17	40602267	40602267	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40602267G>T	uc010daf.1	+	c.235G>T	c.(235-237)GAT>TAT	p.D79Y	HEXIM2_uc002iih.1_Missense_Mutation_p.D57Y|HEXIM2_uc002iii.1_Missense_Mutation_p.D57Y|HEXIM2_uc002iij.1_Missense_Mutation_p.D57Y	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	hexamthylene bis-acetamide inducible 2	57					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding|transcription repressor activity				0														0.457275	520.436609	521.131263	198	235	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40602267	40602267	7360	17	G	T	T	33	33	HEXIM2	T	3	3
HEXIM2	124790	broad.mit.edu	36	17	40602672	40602672	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40602672G>T	uc010daf.1	+	c.640G>T	c.(640-642)GAC>TAC	p.D214Y	HEXIM2_uc002iih.1_Missense_Mutation_p.D192Y|HEXIM2_uc002iii.1_Missense_Mutation_p.D192Y|HEXIM2_uc002iij.1_Missense_Mutation_p.D192Y	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	hexamthylene bis-acetamide inducible 2	192					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding|transcription repressor activity				0														0.409091	21.963772	22.124227	9	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40602672	40602672	7360	17	G	T	T	41	41	HEXIM2	T	3	3
FMNL1	752	broad.mit.edu	36	17	40667283	40667283	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40667283C>T	uc002iin.1	+	c.547C>T	c.(547-549)CAG>TAG	p.Q183*	FMNL1_uc002iio.2_Nonsense_Mutation_p.Q128*	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	183	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GBM(164;1247 1997 8702 11086 51972)								0.182482	40.601804	53.573657	25	112	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	40667283	40667283	6193	17	C	T	T	25	25	FMNL1	T	5	2
FMNL1	752	broad.mit.edu	36	17	40677356	40677356	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40677356T>C	uc002iin.1	+	c.2479T>C	c.(2479-2481)TCC>CCC	p.S827P	FMNL1_uc002iiq.1_Missense_Mutation_p.S405P|FMNL1_uc010dag.1_Non-coding_Transcript	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	827	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GBM(164;1247 1997 8702 11086 51972)								0.244898	33.880787	36.781726	12	37	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40677356	40677356	6193	17	T	C	C	58	58	FMNL1	C	4	4
C17orf46	124783	broad.mit.edu	36	17	40688449	40688449	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40688449T>C	uc002iis.1	-	c.883A>G	c.(883-885)ACC>GCC	p.T295A	LOC100133991_uc010dah.1_Intron	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	295										large_intestine(1)|ovary(1)	2														0.193717	168.243786	201.714352	74	308	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40688449	40688449	1913	17	T	C	C	58	58	C17orf46	C	4	4
MAP3K14	9020	broad.mit.edu	36	17	40697870	40697870	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40697870G>A	uc002iiw.1	-	c.2760C>T	c.(2758-2760)ATC>ATT	p.I920I	LOC100133991_uc010dah.1_Intron|C17orf46_uc002iis.1_5'Flank|LOC100133991_uc002iit.2_Intron|LOC100133991_uc010dai.1_Intron|MAP3K14_uc002iiu.1_Silent_p.I450I|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Silent_p.I504I	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	920					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein phosphorylation|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|ovary(1)|lung(1)	5									p.I450I(IM95-Tumor)	697				0.346154	45.43312	46.520225	18	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	40697870	40697870	9631	17	G	A	A	37	37	MAP3K14	A	1	1
ARHGAP27	201176	broad.mit.edu	36	17	40829267	40829267	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40829267C>A	uc002iix.1	-	c.1229_splice	c.e15-1	p.D410_splice	ARHGAP27_uc010dak.1_Splice_Site_SNP_p.D383_splice	NM_199282	NP_954976			Rho GTPase activating protein 27						positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)													0.375	174.405131	176.937633	69	115	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	40829267	40829267	888	17	C	A	A	32	32	ARHGAP27	A	5	3
ANKFY1	51479	broad.mit.edu	36	17	4085933	4085933	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4085933C>T	uc002fxn.1	-	c.331G>A	c.(331-333)GAT>AAT	p.D111N	ANKFY1_uc002fxo.1_Missense_Mutation_p.D69N|ANKFY1_uc002fxp.1_Missense_Mutation_p.D69N|ANKFY1_uc010ckp.1_Intron|ANKFY1_uc002fxq.1_Missense_Mutation_p.D69N|ANKFY1_uc002fxr.1_Missense_Mutation_p.D69N	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	69	BTB.					endosome membrane	protein binding|zinc ion binding			ovary(2)	2														0.432432	359.638477	360.818669	128	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4085933	4085933	629	17	C	T	T	31	31	ANKFY1	T	1	1
PLEKHM1	9842	broad.mit.edu	36	17	40886534	40886534	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40886534C>A	uc002ija.1	-	c.2467G>T	c.(2467-2469)GGC>TGC	p.G823C	PLEKHM1_uc002ijb.1_Missense_Mutation_p.G298C|PLEKHM1_uc002ijc.2_Missense_Mutation_p.G277C	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	823					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)													0.434783	80.427507	80.684653	30	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40886534	40886534	12506	17	C	A	A	24	24	PLEKHM1	A	3	3
CRHR1	1394	broad.mit.edu	36	17	41263699	41263699	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:41263699T>G	uc010dap.1	+	c.778T>G	c.(778-780)TTC>GTC	p.F260V	CRHR1_uc002ijm.1_Missense_Mutation_p.F231V|CRHR1_uc010dao.1_Missense_Mutation_p.F130V|CRHR1_uc010daq.1_Missense_Mutation_p.F56V|CRHR1_uc002ijn.1_Missense_Mutation_p.F191V|CRHR1_uc010dar.1_Missense_Mutation_p.F231V|CRHR1_uc002ijp.1_5'Flank	NM_004382	NP_004373	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	260	Helical; Name=4; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity				0	Colorectal(2;0.0416)					Ovarian(110;57 1568 10207 38216 49865)								0.351779	251.059248	255.978547	89	164	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.161)	Missense_Mutation	SNP	41263699	41263699	4010	17	T	G	G	60	60	CRHR1	G	4	4
CRHR1	1394	broad.mit.edu	36	17	41267793	41267793	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:41267793G>T	uc010dap.1	+	c.1217G>T	c.(1216-1218)AGG>ATG	p.R406M	CRHR1_uc002ijm.1_Missense_Mutation_p.R377M|CRHR1_uc010dao.1_Missense_Mutation_p.R276M|CRHR1_uc010daq.1_Missense_Mutation_p.R202M|CRHR1_uc002ijn.1_Missense_Mutation_p.R337M|CRHR1_uc010dar.1_Missense_Mutation_p.R363M|CRHR1_uc002ijp.1_Missense_Mutation_p.G57C	NM_004382	NP_004373	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	406	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity				0	Colorectal(2;0.0416)					Ovarian(110;57 1568 10207 38216 49865)								0.201835	41.686209	50.695086	22	87	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.161)	Missense_Mutation	SNP	41267793	41267793	4010	17	G	T	T	35	35	CRHR1	T	3	3
VPS53	55275	broad.mit.edu	36	17	412713	412713	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:412713G>A	uc010cjo.1	-	c.1336C>T	c.(1336-1338)CGG>TGG	p.R446W	VPS53_uc002frk.2_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.R417W|VPS53_uc002frn.2_Missense_Mutation_p.R446W|VPS53_uc002fro.2_Missense_Mutation_p.R248W|VPS53_uc010cjp.1_Missense_Mutation_p.R169W	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 1	446					protein transport	endosome membrane|Golgi apparatus					0														0.195946	57.289832	70.045256	29	119	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	Missense_Mutation	SNP	412713	412713	17782	17	G	A	A	37	37	VPS53	A	1	1
NSF	4905	broad.mit.edu	36	17	42184064	42184064	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42184064G>A	uc002iku.2	+	c.2072G>A	c.(2071-2073)CGC>CAC	p.R691H		NM_006178	NP_006169	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	691					protein transport|proteolysis|synaptic transmission	cytosol	ATP binding|ATP-dependent peptidase activity|metal ion binding|serine-type endopeptidase activity			ovary(1)	1		Melanoma(429;0.203)				Ovarian(25;472 742 1472 36813 50223)								0.393443	66.085508	66.692139	24	37	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	Missense_Mutation	SNP	42184064	42184064	11076	17	G	A	A	38	38	NSF	A	1	1
NSF	4905	broad.mit.edu	36	17	42184134	42184134	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42184134C>T	uc002iku.2	+	c.2142C>T	c.(2140-2142)ATC>ATT	p.I714I		NM_006178	NP_006169	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	714					protein transport|proteolysis|synaptic transmission	cytosol	ATP binding|ATP-dependent peptidase activity|metal ion binding|serine-type endopeptidase activity			ovary(1)	1		Melanoma(429;0.203)				Ovarian(25;472 742 1472 36813 50223)								0.320755	42.553653	44.067824	17	36	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	Silent	SNP	42184134	42184134	11076	17	C	T	T	31	31	NSF	T	1	1
WNT9B	7484	broad.mit.edu	36	17	42305049	42305049	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42305049C>T	uc002ikw.1	+	c.245C>T	c.(244-246)GCG>GTG	p.A82V	WNT9B_uc002ikx.1_Missense_Mutation_p.A82V	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	82					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding				0														0.144444	16.121542	27.074189	13	77	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0257)		Missense_Mutation	SNP	42305049	42305049	17973	17	C	T	T	27	27	WNT9B	T	1	1
WNT9B	7484	broad.mit.edu	36	17	42308905	42308905	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42308905G>A	uc002ikw.1	+	c.896G>A	c.(895-897)GGC>GAC	p.G299D	WNT9B_uc002ikx.1_Missense_Mutation_p.G299D	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	299					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding				0														0.48951	201.63658	201.650394	70	73	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0257)		Missense_Mutation	SNP	42308905	42308905	17973	17	G	A	A	42	42	WNT9B	A	2	2
WNT9B	7484	broad.mit.edu	36	17	42309029	42309029	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42309029C>T	uc002ikw.1	+	c.1020C>T	c.(1018-1020)TAC>TAT	p.Y340Y	WNT9B_uc002ikx.1_Intron	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	340					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding				0														0.220339	55.389205	63.886503	26	92	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0257)		Silent	SNP	42309029	42309029	17973	17	C	T	T	19	19	WNT9B	T	1	1
GOSR2	9570	broad.mit.edu	36	17	42361933	42361933	+	Missense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42361933C>G	uc002ikz.1	+	c.78C>G	c.(76-78)GAC>GAG	p.D26E	GOSR2_uc002iky.1_Missense_Mutation_p.D26E|GOSR2_uc002ila.1_Missense_Mutation_p.D26E	NM_054022	NP_473363	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2 isoform B	26	Cytoplasmic (Potential).				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			ovary(1)	1														0.206897	64.337439	73.569994	24	92	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.102)		Missense_Mutation	SNP	42361933	42361933	6851	17	C	G	G	17	17	GOSR2	G	3	3
MYL4	4635	broad.mit.edu	36	17	42652349	42652349	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42652349C>T	uc010day.1	+	c.244C>T	c.(244-246)CTG>TTG	p.L82L	MYL4_uc002ilg.1_Silent_p.L82L|MYL4_uc002ilh.1_Silent_p.L82L	NM_002476	NP_002467	P12829	MYL4_HUMAN	atrial/embryonic alkali myosin light chain	82	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|motor activity|myosin II heavy chain binding|structural constituent of muscle			ovary(2)	2														0.568627	89.977978	90.18681	29	22	CC		KEEP	---	---	---	---	capture			Silent	SNP	42652349	42652349	10444	17	C	T	T	20	20	MYL4	T	2	2
C17orf57	124989	broad.mit.edu	36	17	42776575	42776575	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42776575G>T	uc002iln.1	+	c.352G>T	c.(352-354)GAA>TAA	p.E118*	C17orf57_uc002ilm.2_Nonsense_Mutation_p.E118*|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Nonsense_Mutation_p.E118*	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	118							calcium ion binding			breast(1)|central_nervous_system(1)	2														0.228	117.31012	134.319002	57	193	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	42776575	42776575	1922	17	G	T	T	33	33	C17orf57	T	5	3
C17orf57	124989	broad.mit.edu	36	17	42836926	42836926	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42836926G>A	uc002iln.1	+	c.2162_splice	c.e20-1	p.E721_splice	C17orf57_uc002ilm.2_Splice_Site_SNP_p.E625_splice	NM_152347	NP_689560			hypothetical protein LOC124989								calcium ion binding			breast(1)|central_nervous_system(1)	2														0.431655	181.873531	182.440753	60	79	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	42836926	42836926	1922	17	G	A	A	33	33	C17orf57	A	5	2
SPNS3	201305	broad.mit.edu	36	17	4284159	4284159	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4284159G>A	uc002fxt.1	+	c.148G>A	c.(148-150)GTC>ATC	p.V50I	SPNS3_uc002fxu.1_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	50	Helical; (Potential).				lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1														0.454545	236.781033	237.136106	90	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4284159	4284159	15589	17	G	A	A	40	40	SPNS3	A	1	1
OSBPL7	114881	broad.mit.edu	36	17	43247690	43247690	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43247690C>T	uc002ilx.1	-	c.1147G>A	c.(1147-1149)GAG>AAG	p.E383K	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	383					lipid transport		lipid binding				0														0.291667	48.145357	50.945548	21	51	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43247690	43247690	11693	17	C	T	T	31	31	OSBPL7	T	1	1
SCRN2	90507	broad.mit.edu	36	17	43272708	43272708	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43272708C>T	uc002imc.1	-	c.228G>A	c.(226-228)TCG>TCA	p.S76S	SCRN2_uc002imd.1_Silent_p.S68S|SCRN2_uc002ime.1_Non-coding_Transcript|SCRN2_uc002imf.1_Silent_p.S68S	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	secernin 2 isoform 1	68					proteolysis		dipeptidase activity			ovary(1)	1														0.465753	192.020246	192.16467	68	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	43272708	43272708	14421	17	C	T	T	31	31	SCRN2	T	1	1
SPNS3	201305	broad.mit.edu	36	17	4337882	4337882	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4337882G>A	uc002fxt.1	+	c.1483G>A	c.(1483-1485)GAC>AAC	p.D495N	SPNS3_uc002fxu.1_Missense_Mutation_p.D368N|SPNS3_uc002fxv.1_Missense_Mutation_p.D146N	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	495					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1														0.411765	426.86692	429.412804	154	220	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4337882	4337882	15589	17	G	A	A	37	37	SPNS3	A	1	1
SNX11	29916	broad.mit.edu	36	17	43551433	43551433	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43551433G>A	uc002inf.1	+	c.425G>A	c.(424-426)CGA>CAA	p.R142Q	SNX11_uc002ing.1_Missense_Mutation_p.R142Q|SNX11_uc002inh.1_Missense_Mutation_p.R142Q	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	142					cell communication|protein transport	membrane	phosphatidylinositol binding				0														0.220588	125.452282	145.008991	60	212	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43551433	43551433	15382	17	G	A	A	37	37	SNX11	A	1	1
HOXB1	3211	broad.mit.edu	36	17	43962791	43962791	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43962791G>T	uc002ink.1	-	c.475C>A	c.(475-477)CTC>ATC	p.L159I		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	159						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.212389	44.026139	52.680013	24	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43962791	43962791	7591	17	G	T	T	33	33	HOXB1	T	3	3
HOXB2	3212	broad.mit.edu	36	17	43976098	43976098	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43976098T>G	uc002inm.1	-	c.402A>C	c.(400-402)GGA>GGC	p.G134G		NM_002145	NP_002136	P14652	HXB2_HUMAN	homeobox B2	134					blood circulation|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.196721	25.965515	31.195065	12	49	TT		KEEP	---	---	---	---	capture			Silent	SNP	43976098	43976098	7593	17	T	G	G	58	58	HOXB2	G	4	4
HOXB3	3213	broad.mit.edu	36	17	43983085	43983085	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43983085G>A	uc002inn.1	-	c.906C>T	c.(904-906)TAC>TAT	p.Y302Y	HOXB3_uc002ino.1_Silent_p.Y302Y|HOXB3_uc010dbf.1_Silent_p.Y302Y|HOXB3_uc010dbg.1_Silent_p.Y302Y	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	302					angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0												OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.451163	260.223375	260.671935	97	118	GG		KEEP	---	---	---	---	capture			Silent	SNP	43983085	43983085	7594	17	G	A	A	40	40	HOXB3	A	1	1
MYBBP1A	10514	broad.mit.edu	36	17	4402306	4402306	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4402306G>T	uc002fxz.2	-	c.768C>A	c.(766-768)TCC>TCA	p.S256S	MYBBP1A_uc002fyb.2_Silent_p.S256S	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 1	256	Nuclear export signal 1 (By similarity).|Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2														0.474576	147.871298	147.938626	56	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	4402306	4402306	10403	17	G	T	T	35	35	MYBBP1A	T	3	3
HOXB5	3215	broad.mit.edu	36	17	44024741	44024741	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44024741G>A	uc002inr.1	-	c.639C>T	c.(637-639)TTC>TTT	p.F213F	HOXB3_uc010dbf.1_5'Flank|HOXB3_uc010dbg.1_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	213	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|transcription regulator activity				0														0.496212	364.265474	364.270042	131	133	GG		KEEP	---	---	---	---	capture			Silent	SNP	44024741	44024741	7596	17	G	A	A	41	41	HOXB5	A	2	2
HOXB8	3218	broad.mit.edu	36	17	44046844	44046844	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44046844G>A	uc002inw.1	-	c.222C>T	c.(220-222)TGC>TGT	p.C74C		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	74					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.470085	138.406493	138.49718	55	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	44046844	44046844	7599	17	G	A	A	38	38	HOXB8	A	1	1
HOXB9	3219	broad.mit.edu	36	17	44058386	44058386	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44058386A>G	uc002inx.1	-	c.245T>C	c.(244-246)ATC>ACC	p.I82T		NM_024017	NP_076922	P17482	HXB9_HUMAN	homeobox B9	82					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity				0														0.375	7.718505	7.829176	3	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44058386	44058386	7600	17	A	G	G	12	12	HOXB9	G	4	4
HOXB13	10481	broad.mit.edu	36	17	44159362	44159362	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44159362C>T	uc002ioa.1	-	c.644G>A	c.(643-645)CGC>CAC	p.R215H		NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	215					angiogenesis|epidermis development|regulation of transcription, DNA-dependent|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.18932	68.967066	87.529556	39	167	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44159362	44159362	7592	17	C	T	T	27	27	HOXB13	T	1	1
CALCOCO2	10241	broad.mit.edu	36	17	44274206	44274206	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44274206G>A	uc002iof.1	+	c.138G>A	c.(136-138)CAG>CAA	p.Q46Q		NM_005831	NP_005822	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	46					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			ovary(1)	1														0.457831	225.972338	226.230494	76	90	GG		KEEP	---	---	---	---	capture			Silent	SNP	44274206	44274206	2694	17	G	A	A	34	34	CALCOCO2	A	2	2
UBE2Z	65264	broad.mit.edu	36	17	44355242	44355242	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44355242G>A	uc002ioi.2	+	c.838G>A	c.(838-840)GAC>AAC	p.D280N		NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	280					apoptosis|post-translational protein modification	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity				0														0.545455	87.141571	87.239338	30	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44355242	44355242	17436	17	G	A	A	37	37	UBE2Z	A	1	1
SMTNL2	342527	broad.mit.edu	36	17	4442433	4442433	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4442433C>T	uc002fyf.1	+	c.428C>T	c.(427-429)TCG>TTG	p.S143L	SMTNL2_uc002fye.2_5'UTR	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	143											0														0.391304	166.180364	167.848266	63	98	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(115;0.0325)	Missense_Mutation	SNP	4442433	4442433	15316	17	C	T	T	31	31	SMTNL2	T	1	1
IGF2BP1	10642	broad.mit.edu	36	17	44477385	44477385	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44477385C>T	uc002iom.1	+	c.1354C>T	c.(1354-1356)CGT>TGT	p.R452C	IGF2BP1_uc010dbj.1_Missense_Mutation_p.R313C	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	452	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.416149	374.779563	376.758552	134	188	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44477385	44477385	7874	17	C	T	T	31	31	IGF2BP1	T	1	1
ABI3	51225	broad.mit.edu	36	17	44650141	44650141	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44650141C>T	uc002iop.1	+	c.327C>T	c.(325-327)ATC>ATT	p.I109I	ABI3_uc002ioq.1_Silent_p.I103I	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	NESH protein isoform 1	109					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding				0														0.427536	157.909918	158.538262	59	79	CC		KEEP	---	---	---	---	capture	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		Silent	SNP	44650141	44650141	91	17	C	T	T	31	31	ABI3	T	1	1
ZNF652	22834	broad.mit.edu	36	17	44749762	44749762	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44749762C>A	uc002iov.2	-	c.325G>T	c.(325-327)GAA>TAA	p.E109*	ZNF652_uc002iou.2_Non-coding_Transcript|ZNF652_uc002iow.1_Nonsense_Mutation_p.E109*	NM_014897	NP_055712	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	109	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)													0.230539	159.181739	181.430599	77	257	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		Nonsense_Mutation	SNP	44749762	44749762	18660	17	C	A	A	32	32	ZNF652	A	5	3
ALOX15	246	broad.mit.edu	36	17	4485809	4485809	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4485809G>T	uc002fyh.1	-	c.1155C>A	c.(1153-1155)ATC>ATA	p.I385I		NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	385	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process|oxidation-reduction process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)|lung(1)|skin(1)	3					Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)									0.217822	42.392118	49.812171	22	79	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(115;0.0327)	Silent	SNP	4485809	4485809	541	17	G	T	T	33	33	ALOX15	T	3	3
ALOX15	246	broad.mit.edu	36	17	4489595	4489595	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4489595C>A	uc002fyh.1	-	c.216G>T	c.(214-216)AAG>AAT	p.K72N		NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	72	PLAT.				inflammatory response|leukotriene biosynthetic process|oxidation-reduction process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)|lung(1)|skin(1)	3					Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)									0.401961	107.541	108.401729	41	61	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(115;0.0327)	Missense_Mutation	SNP	4489595	4489595	541	17	C	A	A	24	24	ALOX15	A	3	3
ALOX15	246	broad.mit.edu	36	17	4491661	4491661	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4491661G>A	uc002fyh.1	-	c.35C>T	c.(34-36)GCC>GTC	p.A12V		NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	12	PLAT.				inflammatory response|leukotriene biosynthetic process|oxidation-reduction process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)|lung(1)|skin(1)	3					Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)									0.389474	99.946044	100.964768	37	58	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(115;0.0327)	Missense_Mutation	SNP	4491661	4491661	541	17	G	A	A	42	42	ALOX15	A	2	2
NGFR	4804	broad.mit.edu	36	17	44938738	44938738	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44938738C>T	uc002ioz.2	+	c.287C>T	c.(286-288)TCG>TTG	p.S96L		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	96	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)	1	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)									46				0.45283	64.586638	64.689946	24	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44938738	44938738	10796	17	C	T	T	31	31	NGFR	T	1	1
PELP1	27043	broad.mit.edu	36	17	4521804	4521804	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4521804C>A	uc002fyi.2	-	c.3231G>T	c.(3229-3231)CAG>CAT	p.Q1077H		NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	1077	Glu-rich.|Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2														0.191489	31.083999	39.458188	18	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4521804	4521804	12146	17	C	A	A	28	28	PELP1	A	3	3
DLX4	1748	broad.mit.edu	36	17	45406105	45406105	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45406105G>T	uc002ipv.1	+	c.522G>T	c.(520-522)AAG>AAT	p.K174N	DLX4_uc002ipw.1_Missense_Mutation_p.K102N	NM_138281	NP_612138	Q92988	DLX4_HUMAN	distal-less homeobox 4 isoform a	174	Homeobox.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.2	211.078807	255.036568	105	420	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45406105	45406105	4753	17	G	T	T	34	34	DLX4	T	3	3
PELP1	27043	broad.mit.edu	36	17	4540939	4540939	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4540939A>G	uc002fyi.2	-	c.413T>C	c.(412-414)GTG>GCG	p.V138A		NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	138					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2														0.40708	124.904964	125.762441	46	67	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4540939	4540939	12146	17	A	G	G	6	6	PELP1	G	4	4
ITGA3	3675	broad.mit.edu	36	17	45488940	45488940	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45488940G>A	uc010dbm.1	+	c.138G>A	c.(136-138)GGG>GGA	p.G46G	ITGA3_uc010dbl.1_Silent_p.G46G	NM_005501	NP_005492	P26006	ITA3_HUMAN	integrin alpha 3 isoform b precursor	46	FG-GAP 1.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3														0.363636	21.29262	21.653074	8	14	GG		KEEP	---	---	---	---	capture			Silent	SNP	45488940	45488940	8181	17	G	A	A	41	41	ITGA3	A	2	2
ITGA3	3675	broad.mit.edu	36	17	45503849	45503849	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45503849C>T	uc010dbm.1	+	c.927C>T	c.(925-927)AGC>AGT	p.S309S	ITGA3_uc010dbl.1_Silent_p.S309S	NM_005501	NP_005492	P26006	ITA3_HUMAN	integrin alpha 3 isoform b precursor	309	FG-GAP 5.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3														0.52459	89.995256	90.027111	32	29	CC		KEEP	---	---	---	---	capture			Silent	SNP	45503849	45503849	8181	17	C	T	T	27	27	ITGA3	T	1	1
COL1A1	1277	broad.mit.edu	36	17	45619156	45619156	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45619156C>T	uc002iqm.1	-	c.3658G>A	c.(3658-3660)GAT>AAT	p.D1220N		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1220					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|transcription activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|breast(1)|pancreas(1)	381					Collagenase(DB00048)|Palifermin(DB00039)					504				0.438095	474.289732	475.714625	184	236	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45619156	45619156	3815	17	C	T	T	29	29	COL1A1	T	2	2
COL1A1	1277	broad.mit.edu	36	17	45619867	45619867	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45619867C>T	uc002iqm.1	-	c.3400G>A	c.(3400-3402)GCC>ACC	p.A1134T		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1134	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|transcription activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|breast(1)|pancreas(1)	381					Collagenase(DB00048)|Palifermin(DB00039)					504				0.348485	122.704065	125.381005	46	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45619867	45619867	3815	17	C	T	T	28	28	COL1A1	T	2	2
COL1A1	1277	broad.mit.edu	36	17	45625359	45625359	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45625359C>T	uc002iqm.1	-	c.1816G>A	c.(1816-1818)GCT>ACT	p.A606T		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	606	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|transcription activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|breast(1)|pancreas(1)	381					Collagenase(DB00048)|Palifermin(DB00039)					504				0.166667	13.458468	19.136742	9	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45625359	45625359	3815	17	C	T	T	27	27	COL1A1	T	1	1
COL1A1	1277	broad.mit.edu	36	17	45627410	45627410	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45627410C>T	uc002iqm.1	-	c.1350G>A	c.(1348-1350)GAG>GAA	p.E450E		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	450	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|transcription activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|breast(1)|pancreas(1)	381					Collagenase(DB00048)|Palifermin(DB00039)					504				0.134831	33.93247	56.900062	24	154	CC		KEEP	---	---	---	---	capture			Silent	SNP	45627410	45627410	3815	17	C	T	T	28	28	COL1A1	T	2	2
EME1	146956	broad.mit.edu	36	17	45808164	45808164	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45808164C>T	uc010dbp.1	+	c.596C>T	c.(595-597)ACC>ATC	p.T199I	MRPL27_uc002iqq.1_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc002iqs.1_Missense_Mutation_p.T199I	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	199					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)													0.430556	154.096527	154.702015	62	82	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		Missense_Mutation	SNP	45808164	45808164	5280	17	C	T	T	18	18	EME1	T	2	2
EME1	146956	broad.mit.edu	36	17	45808501	45808501	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45808501C>T	uc010dbp.1	+	c.851C>T	c.(850-852)GCG>GTG	p.A284V	MRPL27_uc002iqq.1_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc002iqs.1_Missense_Mutation_p.A284V	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	284					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)													0.436782	205.966545	206.573201	76	98	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		Missense_Mutation	SNP	45808501	45808501	5280	17	C	T	T	27	27	EME1	T	1	1
CHAD	1101	broad.mit.edu	36	17	45901082	45901082	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45901082C>T	uc010dbr.1	-	c.92G>A	c.(91-93)AGC>AAC	p.S31N	ACSF2_uc002iqu.2_Intron|CHAD_uc010dbs.1_Missense_Mutation_p.S31N|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	31	LRRNT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)													0.47619	63.196858	63.217635	20	22	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		Missense_Mutation	SNP	45901082	45901082	3443	17	C	T	T	28	28	CHAD	T	2	2
ACSF2	80221	broad.mit.edu	36	17	45904789	45904789	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45904789C>T	uc002iqu.2	+	c.1325C>T	c.(1324-1326)GCC>GTC	p.A442V	ACSF2_uc010dbt.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	442					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)													0.380282	66.195441	67.092094	27	44	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		Missense_Mutation	SNP	45904789	45904789	176	17	C	T	T	26	26	ACSF2	T	2	2
ACSF2	80221	broad.mit.edu	36	17	45906124	45906124	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45906124C>T	uc002iqu.2	+	c.1575C>T	c.(1573-1575)CTC>CTT	p.L525L	ACSF2_uc010dbt.1_Silent_p.L29L	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	525					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)													0.213376	141.559001	165.39	67	247	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		Silent	SNP	45906124	45906124	176	17	C	T	T	31	31	ACSF2	T	1	1
ZMYND15	84225	broad.mit.edu	36	17	4593493	4593493	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4593493C>T	uc002fyu.1	+	c.1291C>T	c.(1291-1293)CGC>TGC	p.R431C	ZMYND15_uc002fyt.1_Missense_Mutation_p.R431C|ZMYND15_uc002fyv.1_Missense_Mutation_p.R431C	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	431							zinc ion binding				0														0.477169	586.428161	586.625825	209	229	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4593493	4593493	18299	17	C	T	T	31	31	ZMYND15	T	1	1
MYCBPAP	84073	broad.mit.edu	36	17	45949033	45949033	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45949033C>A	uc002iqy.1	+	c.198C>A	c.(196-198)GCC>GCA	p.A66A	MYCBPAP_uc002iqx.1_Silent_p.A103A|MYCBPAP_uc002iqz.1_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	66					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|ovary(1)|pancreas(1)	4	Breast(11;1.23e-18)													0.394231	110.033687	111.057077	41	63	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		Silent	SNP	45949033	45949033	10414	17	C	A	A	21	21	MYCBPAP	A	3	3
ZMYND15	84225	broad.mit.edu	36	17	4594953	4594953	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4594953G>T	uc002fyu.1	+	c.1901G>T	c.(1900-1902)AGG>ATG	p.R634M	ZMYND15_uc002fyt.1_Missense_Mutation_p.R587M|ZMYND15_uc002fyv.1_Missense_Mutation_p.R626M	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	587							zinc ion binding				0														0.206452	63.00076	75.39819	32	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4594953	4594953	18299	17	G	T	T	35	35	ZMYND15	T	3	3
MYCBPAP	84073	broad.mit.edu	36	17	45951385	45951385	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45951385A>G	uc002iqy.1	+	c.722A>G	c.(721-723)TAC>TGC	p.Y241C	MYCBPAP_uc002iqx.1_Missense_Mutation_p.Y278C|MYCBPAP_uc002iqz.1_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	241					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|ovary(1)|pancreas(1)	4	Breast(11;1.23e-18)													0.238095	83.700829	91.584969	30	96	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		Missense_Mutation	SNP	45951385	45951385	10414	17	A	G	G	14	14	MYCBPAP	G	4	4
ZMYND15	84225	broad.mit.edu	36	17	4595376	4595376	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4595376C>T	uc002fyu.1	+	c.2038C>T	c.(2038-2040)CGC>TGC	p.R680C	ZMYND15_uc002fyt.1_Missense_Mutation_p.R633C|ZMYND15_uc002fyv.1_Missense_Mutation_p.R672C	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	633							zinc ion binding				0														0.44358	316.199182	316.911908	114	143	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4595376	4595376	18299	17	C	T	T	23	23	ZMYND15	T	1	1
MYCBPAP	84073	broad.mit.edu	36	17	45955464	45955464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45955464C>T	uc002iqy.1	+	c.1441C>T	c.(1441-1443)CGA>TGA	p.R481*	MYCBPAP_uc002iqz.1_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	481					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|ovary(1)|pancreas(1)	4	Breast(11;1.23e-18)													0.191919	71.044918	88.596773	38	160	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		Nonsense_Mutation	SNP	45955464	45955464	10414	17	C	T	T	27	27	MYCBPAP	T	5	1
EPN3	55040	broad.mit.edu	36	17	45969331	45969331	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45969331C>T	uc002ira.2	+	c.415C>T	c.(415-417)CGG>TGG	p.R139W	EPN3_uc002irb.2_Missense_Mutation_p.R83W	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	139	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)													0.269841	38.248074	41.259334	17	46	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		Missense_Mutation	SNP	45969331	45969331	5380	17	C	T	T	27	27	EPN3	T	1	1
SPATA20	64847	broad.mit.edu	36	17	45980965	45980965	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45980965G>A	uc002ird.1	+	c.348G>A	c.(346-348)CCG>CCA	p.P116P	SPATA20_uc002irc.1_5'UTR|SPATA20_uc002ire.1_Silent_p.P56P|SPATA20_uc002irf.1_Silent_p.P100P|SPATA20_uc002irg.1_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	100					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)													0.639344	116.332001	117.372801	39	22	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		Silent	SNP	45980965	45980965	15514	17	G	A	A	37	37	SPATA20	A	1	1
CACNA1G	8913	broad.mit.edu	36	17	46028952	46028952	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46028952G>A	uc002irk.1	+	c.3010G>A	c.(3010-3012)GAT>AAT	p.D1004N	CACNA1G_uc002iri.1_Missense_Mutation_p.D1004N|CACNA1G_uc002irj.1_Missense_Mutation_p.D981N|CACNA1G_uc002irl.1_Missense_Mutation_p.D981N|CACNA1G_uc002irm.1_Missense_Mutation_p.D981N|CACNA1G_uc002irn.1_Missense_Mutation_p.D981N|CACNA1G_uc002iro.1_Missense_Mutation_p.D981N|CACNA1G_uc002irp.1_Missense_Mutation_p.D1004N|CACNA1G_uc002irq.1_Missense_Mutation_p.D981N|CACNA1G_uc002irr.1_Missense_Mutation_p.D1004N|CACNA1G_uc002irs.1_Missense_Mutation_p.D1004N|CACNA1G_uc002irt.1_Missense_Mutation_p.D1004N|CACNA1G_uc002irv.1_Missense_Mutation_p.D1004N|CACNA1G_uc002irw.1_Missense_Mutation_p.D981N|CACNA1G_uc002iru.1_Missense_Mutation_p.D981N|CACNA1G_uc002irx.1_Missense_Mutation_p.D917N|CACNA1G_uc002iry.1_Missense_Mutation_p.D917N|CACNA1G_uc002irz.1_Missense_Mutation_p.D917N|CACNA1G_uc002isa.1_Missense_Mutation_p.D917N|CACNA1G_uc002isb.1_Missense_Mutation_p.D917N|CACNA1G_uc002isc.1_Missense_Mutation_p.D917N|CACNA1G_uc002isd.1_Missense_Mutation_p.D917N|CACNA1G_uc002ise.1_Missense_Mutation_p.D917N|CACNA1G_uc002isf.1_Missense_Mutation_p.D917N|CACNA1G_uc002isg.1_Missense_Mutation_p.D917N|CACNA1G_uc002ish.1_Missense_Mutation_p.D917N|CACNA1G_uc002isi.1_Missense_Mutation_p.D894N|CACNA1G_uc002isj.2_5'Flank	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1004	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)				Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.166667	26.738522	36.85556	16	80	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Missense_Mutation	SNP	46028952	46028952	2660	17	G	A	A	37	37	CACNA1G	A	1	1
CACNA1G	8913	broad.mit.edu	36	17	46040355	46040355	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46040355C>T	uc002irk.1	+	c.4681C>T	c.(4681-4683)CGA>TGA	p.R1561*	CACNA1G_uc002irj.1_Nonsense_Mutation_p.R1538*|CACNA1G_uc002irl.1_Nonsense_Mutation_p.R1538*|CACNA1G_uc002irm.1_Nonsense_Mutation_p.R1538*|CACNA1G_uc002irn.1_Nonsense_Mutation_p.R1538*|CACNA1G_uc002iro.1_Nonsense_Mutation_p.R1538*|CACNA1G_uc002irp.1_Nonsense_Mutation_p.R1561*|CACNA1G_uc002irq.1_Nonsense_Mutation_p.R1538*|CACNA1G_uc002irr.1_Nonsense_Mutation_p.R1561*|CACNA1G_uc002irs.1_Nonsense_Mutation_p.R1561*|CACNA1G_uc002irt.1_Nonsense_Mutation_p.R1561*|CACNA1G_uc002irv.1_Nonsense_Mutation_p.R1561*|CACNA1G_uc002irw.1_Nonsense_Mutation_p.R1538*|CACNA1G_uc002iru.1_Nonsense_Mutation_p.R1538*|CACNA1G_uc002irx.1_Nonsense_Mutation_p.R1474*|CACNA1G_uc002iry.1_Nonsense_Mutation_p.R1474*|CACNA1G_uc002irz.1_Nonsense_Mutation_p.R1474*|CACNA1G_uc002isa.1_Nonsense_Mutation_p.R1440*|CACNA1G_uc002isb.1_Nonsense_Mutation_p.R1474*|CACNA1G_uc002isc.1_Nonsense_Mutation_p.R1474*|CACNA1G_uc002isd.1_Nonsense_Mutation_p.R1474*|CACNA1G_uc002ise.1_Nonsense_Mutation_p.R1440*|CACNA1G_uc002isf.1_Nonsense_Mutation_p.R1474*|CACNA1G_uc002isg.1_Nonsense_Mutation_p.R1440*|CACNA1G_uc002ish.1_Nonsense_Mutation_p.R1440*|CACNA1G_uc002isi.1_Nonsense_Mutation_p.R1417*	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1561	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)				Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.478261	29.723207	29.732581	11	12	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Nonsense_Mutation	SNP	46040355	46040355	2660	17	C	T	T	19	19	CACNA1G	T	5	1
CACNA1G	8913	broad.mit.edu	36	17	46051304	46051304	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46051304C>A	uc002irk.1	+	c.5717C>A	c.(5716-5718)CCT>CAT	p.P1906H	CACNA1G_uc002irj.1_Missense_Mutation_p.P1872H|CACNA1G_uc002irl.1_Missense_Mutation_p.P1883H|CACNA1G_uc002irm.1_Missense_Mutation_p.P1872H|CACNA1G_uc002irn.1_Missense_Mutation_p.P1865H|CACNA1G_uc002iro.1_Missense_Mutation_p.P1872H|CACNA1G_uc002irp.1_Missense_Mutation_p.P1906H|CACNA1G_uc002irq.1_Missense_Mutation_p.P1883H|CACNA1G_uc002irr.1_Missense_Mutation_p.P1906H|CACNA1G_uc002irs.1_Missense_Mutation_p.P1895H|CACNA1G_uc002irt.1_Missense_Mutation_p.P1888H|CACNA1G_uc002irv.1_Missense_Mutation_p.P1895H|CACNA1G_uc002irw.1_Missense_Mutation_p.P1883H|CACNA1G_uc002iru.1_Missense_Mutation_p.P1872H|CACNA1G_uc002irx.1_Missense_Mutation_p.P1819H|CACNA1G_uc002iry.1_Missense_Mutation_p.P1808H|CACNA1G_uc002irz.1_Missense_Mutation_p.P1812H|CACNA1G_uc002isa.1_Missense_Mutation_p.P1785H|CACNA1G_uc002isb.1_Missense_Mutation_p.P1826H|CACNA1G_uc002isc.1_Missense_Mutation_p.P1808H|CACNA1G_uc002isd.1_Missense_Mutation_p.P1794H|CACNA1G_uc002ise.1_Missense_Mutation_p.P1774H|CACNA1G_uc002isf.1_Missense_Mutation_p.P1801H|CACNA1G_uc002isg.1_Missense_Mutation_p.P1767H|CACNA1G_uc002ish.1_Missense_Mutation_p.P1774H|CACNA1G_uc002isi.1_Missense_Mutation_p.P1762H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1906	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)				Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.290323	21.560112	22.782973	9	22	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Missense_Mutation	SNP	46051304	46051304	2660	17	C	A	A	24	24	CACNA1G	A	3	3
ABCC3	8714	broad.mit.edu	36	17	46108086	46108086	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46108086C>T	uc002isl.1	+	c.2810C>T	c.(2809-2811)GCG>GTG	p.A937V		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	937	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			central_nervous_system(1)	1					Glibenclamide(DB01016)				p.A937V(LS180-Tumor)	438				0.294118	11.566782	12.212697	5	12	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Missense_Mutation	SNP	46108086	46108086	55	17	C	T	T	27	27	ABCC3	T	1	1
ABCC3	8714	broad.mit.edu	36	17	46108730	46108730	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46108730C>T	uc002isl.1	+	c.3160C>T	c.(3160-3162)CGC>TGC	p.R1054C	ABCC3_uc002isn.1_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1054	Cytoplasmic (By similarity).|ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			central_nervous_system(1)	1					Glibenclamide(DB01016)				p.R1054C(SNU1079-Tumor)	438				0.423174	450.051433	452.087762	168	229	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Missense_Mutation	SNP	46108730	46108730	55	17	C	T	T	19	19	ABCC3	T	1	1
ABCC3	8714	broad.mit.edu	36	17	46116406	46116406	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46116406G>A	uc002isl.1	+	c.4052G>A	c.(4051-4053)GGC>GAC	p.G1351D	ABCC3_uc002isn.1_Missense_Mutation_p.G105D	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1351	Cytoplasmic (By similarity).|ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			central_nervous_system(1)	1					Glibenclamide(DB01016)					438				0.513158	110.619317	110.630742	39	37	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Missense_Mutation	SNP	46116406	46116406	55	17	G	A	A	42	42	ABCC3	A	2	2
ANKRD40	91369	broad.mit.edu	36	17	46133050	46133050	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46133050C>T	uc002iso.1	-	c.161G>A	c.(160-162)CGA>CAA	p.R54Q		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	54	ANK 2.										0														0.257009	129.200523	140.608013	55	159	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		Missense_Mutation	SNP	46133050	46133050	677	17	C	T	T	31	31	ANKRD40	T	1	1
TM4SF5	9032	broad.mit.edu	36	17	4622048	4622048	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4622048C>T	uc002fyw.1	+	c.82C>T	c.(82-84)CTG>TTG	p.L28L		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	28	Helical; (Potential).					integral to plasma membrane				ovary(1)	1														0.20712	145.125955	169.692232	64	245	CC		KEEP	---	---	---	---	capture			Silent	SNP	4622048	4622048	16501	17	C	T	T	24	24	TM4SF5	T	2	2
WFIKKN2	124857	broad.mit.edu	36	17	46272429	46272429	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46272429C>T	uc002isv.2	+	c.781C>T	c.(781-783)CGT>TGT	p.R261C	WFIKKN2_uc010dbu.1_Missense_Mutation_p.R168C	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	261	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)	2														0.167832	35.604462	50.592175	24	119	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		Missense_Mutation	SNP	46272429	46272429	17933	17	C	T	T	27	27	WFIKKN2	T	1	1
TOB1	10140	broad.mit.edu	36	17	46296233	46296233	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46296233G>T	uc002isw.1	-	c.145C>A	c.(145-147)CCA>ACA	p.P49T	TOB1_uc002isx.1_Missense_Mutation_p.P49T|TOB1_uc010dbv.1_Missense_Mutation_p.P49T	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	49					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1						NSCLC(144;643 1919 24513 29423 40686)								0.175141	115.516714	150.774717	62	292	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		Missense_Mutation	SNP	46296233	46296233	16888	17	G	T	T	42	42	TOB1	T	3	3
SPAG9	9043	broad.mit.edu	36	17	46414904	46414904	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46414904G>A	uc002itc.1	-	c.3217C>T	c.(3217-3219)CCA>TCA	p.P1073S	SPAG9_uc002ita.1_Missense_Mutation_p.P408S|SPAG9_uc002itb.1_Missense_Mutation_p.P1059S|SPAG9_uc002itd.1_Missense_Mutation_p.P1063S	NM_003971	NP_003962	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 3	1073					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(1)	1														0.188791	126.205518	156.93354	64	275	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		Missense_Mutation	SNP	46414904	46414904	15488	17	G	A	A	42	42	SPAG9	A	2	2
NME1-NME2	654364	broad.mit.edu	36	17	46588031	46588031	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46588031G>A	uc002itk.1	+	c.92G>A	c.(91-93)CGT>CAT	p.R31H	NME1_uc010dbx.1_Missense_Mutation_p.R31H|NME1_uc002ith.1_Missense_Mutation_p.R31H|NME1_uc002iti.1_Missense_Mutation_p.R6H|NME1-NME2_uc002itj.1_Missense_Mutation_p.R6H	NM_002512	NP_002503	P22392	NDKB_HUMAN	non-metastatic cells 2, protein (NM23B)	6	Interaction with AKAP13.				cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|regulation of transcription, DNA-dependent|UTP biosynthetic process	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity				0														0.406897	158.884344	159.985255	59	86	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Missense_Mutation	SNP	46588031	46588031	10893	17	G	A	A	40	40	NME1-NME2	A	1	1
SLC25A11	8402	broad.mit.edu	36	17	4782072	4782072	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4782072C>A	uc002fzo.1	-	c.780G>T	c.(778-780)AAG>AAT	p.K260N	SLC25A11_uc002fzp.1_Missense_Mutation_p.K256N|RNF167_uc002fzq.1_5'Flank|RNF167_uc002fzr.1_5'Flank|RNF167_uc002fzs.1_5'Flank|RNF167_uc002fzt.1_5'Flank|RNF167_uc002fzu.1_5'Flank|RNF167_uc002fzv.1_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.1_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier;	260	Solcar 3.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						Esophageal Squamous(144;1178 2388 18010 48797)								0.189189	126.490719	163.351264	77	330	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4782072	4782072	14970	17	C	A	A	32	32	SLC25A11	A	3	3
SLC25A11	8402	broad.mit.edu	36	17	4783121	4783121	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4783121C>T	uc002fzo.1	-	c.227G>A	c.(226-228)GGC>GAC	p.G76D	SLC25A11_uc002fzp.1_Missense_Mutation_p.G44D|RNF167_uc002fzq.1_5'Flank|RNF167_uc002fzr.1_5'Flank|RNF167_uc002fzs.1_5'Flank|RNF167_uc002fzt.1_5'Flank|RNF167_uc002fzu.1_5'Flank|RNF167_uc002fzv.1_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.1_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier;	76	Solcar 1.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						Esophageal Squamous(144;1178 2388 18010 48797)								0.417391	272.259976	273.602179	96	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4783121	4783121	14970	17	C	T	T	26	26	SLC25A11	T	2	2
RNF167	26001	broad.mit.edu	36	17	4786478	4786478	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4786478G>A	uc002fzq.1	+	c.263G>A	c.(262-264)CGA>CAA	p.R88Q	SLC25A11_uc002fzo.1_5'Flank|SLC25A11_uc002fzp.1_5'Flank|RNF167_uc002fzr.1_Missense_Mutation_p.R88Q|RNF167_uc002fzs.1_Missense_Mutation_p.R88Q|RNF167_uc002fzt.1_Missense_Mutation_p.R88Q|RNF167_uc002fzu.1_Missense_Mutation_p.R88Q|RNF167_uc002fzv.1_Missense_Mutation_p.R53Q|RNF167_uc002fzw.1_Missense_Mutation_p.R53Q|RNF167_uc002fzx.1_Missense_Mutation_p.R53Q|RNF167_uc002fzy.2_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167	88	PA.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0														0.174888	68.901888	91.131054	39	184	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4786478	4786478	13935	17	G	A	A	37	37	RNF167	A	1	1
ENO3	2027	broad.mit.edu	36	17	4800149	4800149	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4800149G>A	uc002gab.2	+	c.1054G>A	c.(1054-1056)GAA>AAA	p.E352K	ENO3_uc002gac.2_Missense_Mutation_p.E352K	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	352					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1														0.410526	104.602643	105.267757	39	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4800149	4800149	5316	17	G	A	A	37	37	ENO3	A	1	1
KIF1C	10749	broad.mit.edu	36	17	4846788	4846788	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4846788G>A	uc002gan.1	+	c.647G>A	c.(646-648)CGT>CAT	p.R216H		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	216	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						Melanoma(96;1023 1447 10250 19259 33730)								0.314286	100.494604	104.767959	44	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4846788	4846788	8596	17	G	A	A	40	40	KIF1C	A	1	1
KIF1C	10749	broad.mit.edu	36	17	4867670	4867670	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4867670C>T	uc002gan.1	+	c.2812C>T	c.(2812-2814)CGT>TGT	p.R938C		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	938					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						Melanoma(96;1023 1447 10250 19259 33730)								0.20202	37.847259	46.015133	20	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4867670	4867670	8596	17	C	T	T	31	31	KIF1C	T	1	1
KIF2B	84643	broad.mit.edu	36	17	49255579	49255579	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:49255579G>T	uc002iua.2	+	c.186G>T	c.(184-186)GAG>GAT	p.E62D		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	62					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.216867	99.509738	117.936059	54	195	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49255579	49255579	8609	17	G	T	T	33	33	KIF2B	T	3	3
KIF2B	84643	broad.mit.edu	36	17	49255822	49255822	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:49255822G>T	uc002iua.2	+	c.429G>T	c.(427-429)AAG>AAT	p.K143N		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	143					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.177914	48.694671	64.609662	29	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49255822	49255822	8609	17	G	T	T	34	34	KIF2B	T	3	3
ZFP3	124961	broad.mit.edu	36	17	4936077	4936077	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4936077G>A	uc002gaq.1	+	c.554G>A	c.(553-555)CGA>CAA	p.R185Q	ZFP3_uc010cky.1_Missense_Mutation_p.R185Q	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	zinc finger protein-3	185	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.218182	127.953865	148.086353	60	215	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4936077	4936077	18231	17	G	A	A	37	37	ZFP3	A	1	1
USP6	9098	broad.mit.edu	36	17	4982143	4982143	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4982143G>A	uc002gau.1	+	c.929G>A	c.(928-930)CGC>CAC	p.R310H	USP6_uc002gav.1_Missense_Mutation_p.R310H|USP6_uc010ckz.1_5'UTR	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	310					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1										464				0.447552	178.618722	178.953994	64	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4982143	4982143	17650	17	G	A	A	38	38	USP6	A	1	1
USP6	9098	broad.mit.edu	36	17	4982252	4982252	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4982252G>A	uc002gau.1	+	c.1038G>A	c.(1036-1038)ACG>ACA	p.T346T	USP6_uc002gav.1_Silent_p.T346T|USP6_uc010ckz.1_5'UTR	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	346					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1										464				0.431884	416.770367	418.1725	149	196	GG		KEEP	---	---	---	---	capture			Silent	SNP	4982252	4982252	17650	17	G	A	A	37	37	USP6	A	1	1
USP6	9098	broad.mit.edu	36	17	4983590	4983590	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4983590C>T	uc002gau.1	+	c.1395C>T	c.(1393-1395)GGC>GGT	p.G465G	USP6_uc002gav.1_Silent_p.G465G|USP6_uc010ckz.1_Silent_p.G148G	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	465					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1										464				0.234177	72.783589	82.949354	37	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	4983590	4983590	17650	17	C	T	T	26	26	USP6	T	2	2
USP6	9098	broad.mit.edu	36	17	4988781	4988781	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4988781C>T	uc002gau.1	+	c.1891C>T	c.(1891-1893)CTC>TTC	p.L631F	USP6_uc002gav.1_Missense_Mutation_p.L631F|USP6_uc010ckz.1_Missense_Mutation_p.L314F	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	631					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1										464				0.430769	416.94557	418.304494	140	185	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4988781	4988781	17650	17	C	T	T	32	32	USP6	T	2	2
USP6	9098	broad.mit.edu	36	17	5012047	5012047	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5012047G>T	uc002gau.1	+	c.3133G>T	c.(3133-3135)GAG>TAG	p.E1045*	USP6_uc002gav.1_Nonsense_Mutation_p.E1045*|USP6_uc010ckz.1_Nonsense_Mutation_p.E728*	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	1045					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1										464				0.404669	272.11971	274.168916	104	153	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	5012047	5012047	17650	17	G	T	T	33	33	USP6	T	5	3
MMD	23531	broad.mit.edu	36	17	50843628	50843628	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:50843628C>A	uc002iui.1	-	c.258G>T	c.(256-258)AAG>AAT	p.K86N		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	86	Cytoplasmic (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0														0.164286	35.835433	50.824946	23	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50843628	50843628	10033	17	C	A	A	32	32	MMD	A	3	3
MMD	23531	broad.mit.edu	36	17	50843761	50843761	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:50843761G>A	uc002iui.1	-	c.125C>T	c.(124-126)GCC>GTC	p.A42V		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	42	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0														0.371134	96.569269	97.986622	36	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50843761	50843761	10033	17	G	A	A	42	42	MMD	A	2	2
TMEM100	55273	broad.mit.edu	36	17	51153224	51153224	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:51153224G>A	uc002iuj.2	-	c.207C>T	c.(205-207)ATC>ATT	p.I69I	TMEM100_uc002iuk.2_Silent_p.I69I|TMEM100_uc010dcf.1_Silent_p.I69I	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	69	Helical; (Potential).					integral to membrane					0														0.229665	102.289952	116.298735	48	161	GG		KEEP	---	---	---	---	capture			Silent	SNP	51153224	51153224	16545	17	G	A	A	37	37	TMEM100	A	1	1
RABEP1	9135	broad.mit.edu	36	17	5176028	5176028	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5176028G>A	uc002gbm.2	+	c.224G>A	c.(223-225)CGA>CAA	p.R75Q	RABEP1_uc002gbj.2_Missense_Mutation_p.R75Q|RABEP1_uc002gbk.2_Missense_Mutation_p.R75Q|RABEP1_uc010clc.1_Missense_Mutation_p.R75Q|RABEP1_uc010cld.1_Missense_Mutation_p.R32Q|RABEP1_uc002gbl.2_Missense_Mutation_p.R75Q	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	75	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|cytoplasmic membrane-bounded vesicle|early endosome|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2									p.R75Q(JHUEM7-Tumor)	903				0.43949	195.449266	195.950474	69	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5176028	5176028	13420	17	G	A	A	37	37	RABEP1	A	1	1
RABEP1	9135	broad.mit.edu	36	17	5179311	5179311	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5179311G>T	uc002gbm.2	+	c.476G>T	c.(475-477)AGA>ATA	p.R159I	RABEP1_uc002gbj.2_Missense_Mutation_p.R159I|RABEP1_uc002gbk.2_Missense_Mutation_p.R159I|RABEP1_uc010clc.1_Missense_Mutation_p.R159I|RABEP1_uc010cld.1_Missense_Mutation_p.R116I|RABEP1_uc002gbl.2_Missense_Mutation_p.R159I	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	159	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|cytoplasmic membrane-bounded vesicle|early endosome|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2										903				0.387931	115.133939	116.414938	45	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5179311	5179311	13420	17	G	T	T	33	33	RABEP1	T	3	3
RABEP1	9135	broad.mit.edu	36	17	5205297	5205297	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5205297C>T	uc002gbm.2	+	c.1166C>T	c.(1165-1167)CCT>CTT	p.P389L	RABEP1_uc010clc.1_Missense_Mutation_p.P382L|RABEP1_uc010cld.1_Missense_Mutation_p.P346L|RABEP1_uc002gbl.2_Missense_Mutation_p.P389L|NUP88_uc002gbn.2_Non-coding_Transcript	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	389					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|cytoplasmic membrane-bounded vesicle|early endosome|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2										903				0.384058	156.537723	158.165758	53	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5205297	5205297	13420	17	C	T	T	24	24	RABEP1	T	2	2
RABEP1	9135	broad.mit.edu	36	17	5221263	5221263	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5221263T>C	uc002gbm.2	+	c.2154T>C	c.(2152-2154)TGT>TGC	p.C718C	RABEP1_uc010clc.1_Silent_p.C711C|RABEP1_uc010cld.1_Silent_p.C675C|RABEP1_uc002gbl.2_Silent_p.C718C|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	718	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|cytoplasmic membrane-bounded vesicle|early endosome|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2										903				0.106599	29.334322	59.591896	21	176	TT		KEEP	---	---	---	---	capture			Silent	SNP	5221263	5221263	13420	17	T	C	C	60	60	RABEP1	C	4	4
DGKE	8526	broad.mit.edu	36	17	52267163	52267163	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:52267163C>T	uc002iur.1	+	c.8C>T	c.(7-9)GCG>GTG	p.A3V	DGKE_uc002ius.1_Missense_Mutation_p.A3V|C17orf67_uc002iuq.1_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	3					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)													0.409091	585.775596	589.737935	225	325	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52267163	52267163	4647	17	C	T	T	27	27	DGKE	T	1	1
TRIM25	7706	broad.mit.edu	36	17	52324180	52324180	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:52324180G>A	uc002iut.1	-	c.1773C>T	c.(1771-1773)TTC>TTT	p.F591F	TRIM25_uc010dcj.1_Silent_p.F383F	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	591	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)													0.262136	62.47545	67.750733	27	76	GG		KEEP	---	---	---	---	capture			Silent	SNP	52324180	52324180	17043	17	G	A	A	37	37	TRIM25	A	1	1
NUP88	4927	broad.mit.edu	36	17	5232873	5232873	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5232873C>T	uc002gbo.1	-	c.1616G>A	c.(1615-1617)CGT>CAT	p.R539H	NUP88_uc010cle.1_Missense_Mutation_p.R538H|NUP88_uc002gbn.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	539					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1										6				0.186992	40.947828	52.243342	23	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5232873	5232873	11176	17	C	T	T	19	19	NUP88	T	1	1
TRIM25	7706	broad.mit.edu	36	17	52333809	52333809	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:52333809C>T	uc002iut.1	-	c.1057G>A	c.(1057-1059)GGG>AGG	p.G353R	TRIM25_uc010dcj.1_Missense_Mutation_p.G145R	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	353	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)													0.201107	247.757915	292.780259	109	433	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52333809	52333809	17043	17	C	T	T	23	23	TRIM25	T	1	1
COIL	8161	broad.mit.edu	36	17	52382058	52382058	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:52382058C>A	uc002iuu.1	-	c.1423G>T	c.(1423-1425)GAA>TAA	p.E475*		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	475	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)													0.20155	47.575953	58.259961	26	103	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	52382058	52382058	3803	17	C	A	A	32	32	COIL	A	5	3
NUP88	4927	broad.mit.edu	36	17	5238952	5238952	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5238952C>T	uc002gbo.1	-	c.1365G>A	c.(1363-1365)ACG>ACA	p.T455T	NUP88_uc010cle.1_Silent_p.T454T	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	455					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1										6				0.173913	49.097883	65.263087	28	133	CC		KEEP	---	---	---	---	capture			Silent	SNP	5238952	5238952	11176	17	C	T	T	31	31	NUP88	T	1	1
MSI2	124540	broad.mit.edu	36	17	52694543	52694543	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:52694543G>A	uc002iuz.1	+	c.303G>A	c.(301-303)GCG>GCA	p.A101A	MSI2_uc002iva.1_Silent_p.A97A|MSI2_uc002ivb.2_Non-coding_Transcript	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	musashi 2 isoform a	101	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1	Breast(9;1.78e-08)									94				0.201878	86.800799	104.396513	43	170	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;0.0025)	Silent	SNP	52694543	52694543	10269	17	G	A	A	38	38	MSI2	A	1	1
C1QBP	708	broad.mit.edu	36	17	5278944	5278944	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5278944C>T	uc002gby.1	-	c.450G>A	c.(448-450)TCG>TCA	p.S150S		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding	150					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				ovary(1)	1														0.432927	195.487032	196.132353	71	93	CC		KEEP	---	---	---	---	capture			Silent	SNP	5278944	5278944	2023	17	C	T	T	27	27	C1QBP	T	1	1
DHX33	56919	broad.mit.edu	36	17	5300063	5300063	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5300063C>T	uc002gca.1	-	c.1013G>A	c.(1012-1014)CGA>CAA	p.R338Q	DHX33_uc002gbz.1_Missense_Mutation_p.R109Q|DHX33_uc002gcb.1_Missense_Mutation_p.R165Q|DHX33_uc010clf.1_Silent_p.P151P	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	338	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2														0.27381	53.000682	56.866588	23	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5300063	5300063	4685	17	C	T	T	31	31	DHX33	T	1	1
DHX33	56919	broad.mit.edu	36	17	5306566	5306566	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5306566C>T	uc002gca.1	-	c.475G>A	c.(475-477)GAT>AAT	p.D159N	DHX33_uc002gbz.1_5'Flank|DHX33_uc002gcb.1_5'UTR|DHX33_uc010clf.1_Intron	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	159	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2														0.151316	67.030062	102.4603	46	258	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5306566	5306566	4685	17	C	T	T	29	29	DHX33	T	2	2
CUEDC1	404093	broad.mit.edu	36	17	53306039	53306039	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53306039C>A	uc002ivd.1	-	c.503G>T	c.(502-504)AGA>ATA	p.R168I	CUEDC1_uc002ive.1_Missense_Mutation_p.R168I	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	168											0														0.18125	46.5578	61.866011	29	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53306039	53306039	4212	17	C	A	A	32	32	CUEDC1	A	3	3
MIS12	79003	broad.mit.edu	36	17	5333245	5333245	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5333245T>G	uc002gcd.1	+	c.339T>G	c.(337-339)GAT>GAG	p.D113E	MIS12_uc002gce.1_Missense_Mutation_p.D113E|MIS12_uc010clg.1_Missense_Mutation_p.D113E	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	MIS12 homolog	113	Potential.				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding				0														0.217949	90.477617	101.907568	34	122	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5333245	5333245	9984	17	T	G	G	52	52	MIS12	G	4	4
MIS12	79003	broad.mit.edu	36	17	5333503	5333503	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5333503G>A	uc002gcd.1	+	c.597G>A	c.(595-597)TCG>TCA	p.S199S	MIS12_uc002gce.1_Silent_p.S199S|MIS12_uc010clg.1_Silent_p.S199S	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	MIS12 homolog	199	Potential.				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding				0														0.444444	259.466127	260.023144	92	115	GG		KEEP	---	---	---	---	capture			Silent	SNP	5333503	5333503	9984	17	G	A	A	37	37	MIS12	A	1	1
DYNLL2	140735	broad.mit.edu	36	17	53519579	53519579	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53519579G>T	uc002ivl.1	+	c.129G>T	c.(127-129)AAG>AAT	p.K43N		NM_080677	NP_542408	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	43					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity				0														0.141304	16.106611	27.536328	13	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53519579	53519579	5035	17	G	T	T	33	33	DYNLL2	T	3	3
NLRP1	22861	broad.mit.edu	36	17	5361912	5361912	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5361912C>T	uc002gci.1	-	c.3935G>A	c.(3934-3936)CGA>CAA	p.R1312Q	NLRP1_uc002gcg.1_Missense_Mutation_p.R1316Q|NLRP1_uc002gch.2_Missense_Mutation_p.R1268Q|NLRP1_uc002gck.1_Missense_Mutation_p.R1268Q|NLRP1_uc002gcj.1_Missense_Mutation_p.R1282Q|NLRP1_uc002gcl.1_Missense_Mutation_p.R1238Q	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1312					activation of caspase activity|defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|regulation of inflammatory response|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)								431				0.448529	172.257551	172.570994	61	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5361912	5361912	10874	17	C	T	T	31	31	NLRP1	T	1	1
EPX	8288	broad.mit.edu	36	17	53629332	53629332	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53629332C>T	uc002ivq.2	+	c.835C>T	c.(835-837)CGT>TGT	p.R279C		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase	279					hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.22293	142.47953	164.658069	70	244	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53629332	53629332	5393	17	C	T	T	27	27	EPX	T	1	1
EPX	8288	broad.mit.edu	36	17	53629408	53629408	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53629408C>T	uc002ivq.2	+	c.911C>T	c.(910-912)GCG>GTG	p.A304V		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase	304					hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.386473	421.419784	426.088212	160	254	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53629408	53629408	5393	17	C	T	T	27	27	EPX	T	1	1
NLRP1	22861	broad.mit.edu	36	17	5365571	5365571	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5365571C>T	uc002gci.1	-	c.3780G>A	c.(3778-3780)CGG>CGA	p.R1260R	NLRP1_uc002gcg.1_Silent_p.R1264R|NLRP1_uc002gch.2_Silent_p.R1260R|NLRP1_uc002gck.1_Silent_p.R1260R|NLRP1_uc002gcj.1_Silent_p.R1230R|NLRP1_uc002gcl.1_Silent_p.R1230R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1260					activation of caspase activity|defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|regulation of inflammatory response|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)								431				0.420213	224.487066	225.532507	79	109	CC		KEEP	---	---	---	---	capture			Silent	SNP	5365571	5365571	10874	17	C	T	T	30	30	NLRP1	T	2	2
MPO	4353	broad.mit.edu	36	17	53703183	53703183	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53703183G>A	uc002ivu.1	-	c.2071C>T	c.(2071-2073)CGA>TGA	p.R691*		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	691					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling|oxidation-reduction process	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)									0.51634	226.916642	226.951962	79	74	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	53703183	53703183	10124	17	G	A	A	38	38	MPO	A	5	1
MPO	4353	broad.mit.edu	36	17	53704125	53704125	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53704125G>A	uc002ivu.1	-	c.1920C>T	c.(1918-1920)ATC>ATT	p.I640I		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	640					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling|oxidation-reduction process	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)									0.25	70.786392	78.313065	33	99	GG		KEEP	---	---	---	---	capture			Silent	SNP	53704125	53704125	10124	17	G	A	A	37	37	MPO	A	1	1
BZRAP1	9256	broad.mit.edu	36	17	53741051	53741051	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53741051G>T	uc002ivx.2	-	c.4581C>A	c.(4579-4581)GCC>GCA	p.A1527A	BZRAP1_uc010dcs.1_Silent_p.A1467A	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1527						mitochondrion	benzodiazepine receptor binding				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.158537	18.631918	27.742224	13	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	53741051	53741051	1611	17	G	T	T	35	35	BZRAP1	T	3	3
BZRAP1	9256	broad.mit.edu	36	17	53744641	53744641	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53744641T>C	uc002ivx.2	-	c.2540A>G	c.(2539-2541)AAC>AGC	p.N847S	BZRAP1_uc010dcs.1_Missense_Mutation_p.N787S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	847	Fibronectin type-III 1.					mitochondrion	benzodiazepine receptor binding				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.438596	78.550523	78.739705	25	32	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53744641	53744641	1611	17	T	C	C	60	60	BZRAP1	C	4	4
BZRAP1	9256	broad.mit.edu	36	17	53760190	53760190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53760190G>A	uc002ivx.2	-	c.91C>T	c.(91-93)CGA>TGA	p.R31*	BZRAP1_uc010dcs.1_Nonsense_Mutation_p.R31*	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	31						mitochondrion	benzodiazepine receptor binding				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.413462	112.948873	113.615352	43	61	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	53760190	53760190	1611	17	G	A	A	37	37	BZRAP1	A	5	1
SEPT4	5414	broad.mit.edu	36	17	53954002	53954002	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53954002C>T	uc002iwm.1	-	c.920G>A	c.(919-921)CGG>CAG	p.R307Q	SEPT4_uc002iwk.1_Missense_Mutation_p.R160Q|SEPT4_uc002iwl.1_Missense_Mutation_p.R160Q|SEPT4_uc002iwn.1_Missense_Mutation_p.R208Q|SEPT4_uc002iwo.1_Missense_Mutation_p.R288Q|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010dcy.1_3'UTR	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	307					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.201954	128.277488	153.620407	62	245	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53954002	53954002	14552	17	C	T	T	23	23	SEPT4	T	1	1
NLRP1	22861	broad.mit.edu	36	17	5397535	5397535	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5397535C>T	uc002gci.1	-	c.2423G>A	c.(2422-2424)AGA>AAA	p.R808K	NLRP1_uc002gcg.1_Missense_Mutation_p.R808K|NLRP1_uc002gch.2_Missense_Mutation_p.R808K|NLRP1_uc002gck.1_Missense_Mutation_p.R808K|NLRP1_uc002gcj.1_Missense_Mutation_p.R808K|NLRP1_uc002gcl.1_Missense_Mutation_p.R808K|NLRP1_uc010clh.1_Missense_Mutation_p.R808K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	808					activation of caspase activity|defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|regulation of inflammatory response|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)								431				0.449541	141.156395	141.398631	49	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5397535	5397535	10874	17	C	T	T	32	32	NLRP1	T	2	2
NLRP1	22861	broad.mit.edu	36	17	5402454	5402454	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5402454G>A	uc002gci.1	-	c.2286C>T	c.(2284-2286)CGC>CGT	p.R762R	NLRP1_uc002gcg.1_Silent_p.R762R|NLRP1_uc002gch.2_Silent_p.R762R|NLRP1_uc002gck.1_Silent_p.R762R|NLRP1_uc002gcj.1_Silent_p.R762R|NLRP1_uc002gcl.1_Silent_p.R762R|NLRP1_uc010clh.1_Silent_p.R762R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	762					activation of caspase activity|defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|regulation of inflammatory response|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)								431				0.457143	268.644096	268.983257	96	114	GG		KEEP	---	---	---	---	capture			Silent	SNP	5402454	5402454	10874	17	G	A	A	42	42	NLRP1	A	2	2
NLRP1	22861	broad.mit.edu	36	17	5403432	5403432	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5403432C>T	uc002gci.1	-	c.1308G>A	c.(1306-1308)GCG>GCA	p.A436A	NLRP1_uc002gcg.1_Silent_p.A436A|NLRP1_uc002gch.2_Silent_p.A436A|NLRP1_uc002gck.1_Silent_p.A436A|NLRP1_uc002gcj.1_Silent_p.A436A|NLRP1_uc002gcl.1_Silent_p.A436A|NLRP1_uc010clh.1_Silent_p.A436A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	436	NACHT.				activation of caspase activity|defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|regulation of inflammatory response|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A436A(1)		lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)								431				0.209877	38.531318	44.840878	17	64	CC		KEEP	---	---	---	---	capture			Silent	SNP	5403432	5403432	10874	17	C	T	T	23	23	NLRP1	T	1	1
TEX14	56155	broad.mit.edu	36	17	54043629	54043629	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54043629C>A	uc010dcz.1	-	c.1094G>T	c.(1093-1095)AGA>ATA	p.R365I	TEX14_uc002iwr.1_Missense_Mutation_p.R359I|TEX14_uc002iws.1_Missense_Mutation_p.R359I|TEX14_uc010dda.1_Missense_Mutation_p.R139I	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	365	Protein kinase.				protein phosphorylation	cytoplasm	ATP binding|protein kinase activity			stomach(4)|ovary(3)|large_intestine(1)|lung(1)|skin(1)|pancreas(1)	11	Medulloblastoma(34;0.127)|all_neural(34;0.237)									598				0.231293	139.422601	158.897201	68	226	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54043629	54043629	16305	17	C	A	A	32	32	TEX14	A	3	3
TEX14	56155	broad.mit.edu	36	17	54055249	54055249	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54055249C>T	uc010dcz.1	-	c.375G>A	c.(373-375)CCG>CCA	p.P125P	TEX14_uc002iwr.1_Silent_p.P125P|TEX14_uc002iws.1_Silent_p.P125P|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	125					protein phosphorylation	cytoplasm	ATP binding|protein kinase activity			stomach(4)|ovary(3)|large_intestine(1)|lung(1)|skin(1)|pancreas(1)	11	Medulloblastoma(34;0.127)|all_neural(34;0.237)									598				0.455882	259.849482	260.194759	93	111	CC		KEEP	---	---	---	---	capture			Silent	SNP	54055249	54055249	16305	17	C	T	T	31	31	TEX14	T	1	1
TEX14	56155	broad.mit.edu	36	17	54062838	54062838	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54062838G>A	uc010dcz.1	-	c.213C>T	c.(211-213)TTC>TTT	p.F71F	TEX14_uc002iwr.1_Silent_p.F71F|TEX14_uc002iws.1_Silent_p.F71F|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	71	ANK 2.				protein phosphorylation	cytoplasm	ATP binding|protein kinase activity			stomach(4)|ovary(3)|large_intestine(1)|lung(1)|skin(1)|pancreas(1)	11	Medulloblastoma(34;0.127)|all_neural(34;0.237)								p.F71F(DV90-Tumor)	598				0.423077	152.130516	152.793756	55	75	GG		KEEP	---	---	---	---	capture			Silent	SNP	54062838	54062838	16305	17	G	A	A	37	37	TEX14	A	1	1
RAD51C	5889	broad.mit.edu	36	17	54127467	54127467	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54127467G>A	uc002iwu.1	+	c.322G>A	c.(322-324)GAT>AAT	p.D108N	RAD51C_uc010ddc.1_Non-coding_Transcript|RAD51C_uc002iwv.1_Non-coding_Transcript|RAD51C_uc002iww.1_Non-coding_Transcript|RAD51C_uc002iwt.1_Missense_Mutation_p.D108N	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	108					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.266667	89.232307	95.876377	36	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54127467	54127467	13448	17	G	A	A	33	33	RAD51C	A	2	2
PPM1E	22843	broad.mit.edu	36	17	54412260	54412260	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54412260G>A	uc002iwx.1	+	c.1354G>A	c.(1354-1356)GAC>AAC	p.D452N	PPM1E_uc010ddd.1_Missense_Mutation_p.D215N	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	461	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)									128				0.224719	41.550424	47.75169	20	69	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		Missense_Mutation	SNP	54412260	54412260	12773	17	G	A	A	37	37	PPM1E	A	1	1
PPM1E	22843	broad.mit.edu	36	17	54413056	54413056	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54413056G>T	uc002iwx.1	+	c.2150G>T	c.(2149-2151)AGA>ATA	p.R717I	PPM1E_uc010ddd.1_Missense_Mutation_p.R480I	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	726					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)									128				0.455	245.380408	245.735443	91	109	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		Missense_Mutation	SNP	54413056	54413056	12773	17	G	T	T	33	33	PPM1E	T	3	3
TRIM37	4591	broad.mit.edu	36	17	54460765	54460765	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54460765C>T	uc002iwy.2	-	c.2050G>A	c.(2050-2052)GAA>AAA	p.E684K	TRIM37_uc002iwz.2_Missense_Mutation_p.E684K|TRIM37_uc002ixa.2_Missense_Mutation_p.E562K	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	684	Potential.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|skin(1)	4	Medulloblastoma(34;0.0922)|all_neural(34;0.101)									422				0.405286	253.745745	255.527846	92	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54460765	54460765	17055	17	C	T	T	31	31	TRIM37	T	1	1
TRIM37	4591	broad.mit.edu	36	17	54479869	54479869	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54479869C>A	uc002iwy.2	-	c.1624G>T	c.(1624-1626)GCA>TCA	p.A542S	TRIM37_uc002iwz.2_Missense_Mutation_p.A542S|TRIM37_uc002ixa.2_Missense_Mutation_p.A420S	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	542						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|skin(1)	4	Medulloblastoma(34;0.0922)|all_neural(34;0.101)									422				0.206897	50.234094	59.472331	24	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54479869	54479869	17055	17	C	A	A	28	28	TRIM37	A	3	3
PRR11	55771	broad.mit.edu	36	17	54601941	54601941	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54601941G>A	uc002ixf.1	+	c.46G>A	c.(46-48)GAA>AAA	p.E16K	PRR11_uc002ixg.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	16										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													0.444444	157.99561	158.331596	56	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54601941	54601941	13026	17	G	A	A	37	37	PRR11	A	1	1
PRR11	55771	broad.mit.edu	36	17	54627488	54627488	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54627488G>A	uc002ixf.1	+	c.759G>A	c.(757-759)CCG>CCA	p.P253P	PRR11_uc002ixg.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	253										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													0.19697	51.479036	62.769736	26	106	GG		KEEP	---	---	---	---	capture			Silent	SNP	54627488	54627488	13026	17	G	A	A	37	37	PRR11	A	1	1
C17orf71	55181	broad.mit.edu	36	17	54645174	54645174	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54645174C>T	uc002ixi.1	+	c.2208C>T	c.(2206-2208)TTC>TTT	p.F736F		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	hypothetical protein LOC55181	736					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			ovary(3)	3	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)													0.415094	296.677218	298.349888	110	155	CC		KEEP	---	---	---	---	capture			Silent	SNP	54645174	54645174	1935	17	C	T	T	31	31	C17orf71	T	1	1
C17orf71	55181	broad.mit.edu	36	17	54645529	54645529	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54645529C>T	uc002ixi.1	+	c.2563C>T	c.(2563-2565)CGA>TGA	p.R855*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	hypothetical protein LOC55181	855					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			ovary(3)	3	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)													0.204082	121.334608	145.234001	60	234	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	54645529	54645529	1935	17	C	T	T	31	31	C17orf71	T	5	1
DHX40	79665	broad.mit.edu	36	17	55002741	55002741	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55002741G>T	uc002ixn.1	+	c.361G>T	c.(361-363)GAA>TAA	p.E121*	DHX40_uc002ixo.1_Nonsense_Mutation_p.E22*	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	121	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.219512	105.725374	123.554981	54	192	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55002741	55002741	4691	17	G	T	T	33	33	DHX40	T	5	3
DHX40	79665	broad.mit.edu	36	17	55037313	55037313	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55037313C>A	uc002ixn.1	+	c.1957C>A	c.(1957-1959)CAT>AAT	p.H653N		NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	653							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.468254	166.700333	166.811938	59	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55037313	55037313	4691	17	C	A	A	29	29	DHX40	A	3	3
CLTC	1213	broad.mit.edu	36	17	55076563	55076563	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55076563C>T	uc002ixr.1	+	c.187C>T	c.(187-189)CGA>TGA	p.R63*	CLTC_uc002ixp.2_Nonsense_Mutation_p.R63*|CLTC_uc002ixq.1_Nonsense_Mutation_p.R63*	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	63	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)	47	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)									397				0.227642	59.234644	67.610793	28	95	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55076563	55076563	3704	17	C	T	T	31	31	CLTC	T	5	1
CLTC	1213	broad.mit.edu	36	17	55117846	55117846	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55117846C>T	uc002ixr.1	+	c.4734C>T	c.(4732-4734)TAC>TAT	p.Y1578Y	CLTC_uc002ixp.2_Silent_p.Y1574Y|CLTC_uc002ixq.1_Silent_p.Y1574Y	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1574	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				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)	47	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)									397				0.450479	389.235068	389.90252	141	172	CC		KEEP	---	---	---	---	capture			Silent	SNP	55117846	55117846	3704	17	C	T	T	19	19	CLTC	T	1	1
TMEM49	81671	broad.mit.edu	36	17	55205902	55205902	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55205902C>T	uc002ixu.2	+	c.588C>T	c.(586-588)ATC>ATT	p.I196I		NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	transmembrane protein 49	196	Extracellular (Potential).					endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane					0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.190217	63.640067	80.14081	35	149	CC		KEEP	---	---	---	---	capture	Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)		Silent	SNP	55205902	55205902	16712	17	C	T	T	31	31	TMEM49	T	1	1
TUBD1	51174	broad.mit.edu	36	17	55310257	55310257	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55310257C>T	uc002ixw.1	-	c.758G>A	c.(757-759)CGA>CAA	p.R253Q	TUBD1_uc010ddf.1_Missense_Mutation_p.R253Q|TUBD1_uc010ddg.1_Missense_Mutation_p.R218Q|TUBD1_uc010ddh.1_Missense_Mutation_p.R134Q|TUBD1_uc002ixx.1_Missense_Mutation_p.R253Q|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	253					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.4375	156.473973	156.926707	56	72	CC		KEEP	---	---	---	---	capture	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Missense_Mutation	SNP	55310257	55310257	17317	17	C	T	T	31	31	TUBD1	T	1	1
TUBD1	51174	broad.mit.edu	36	17	55313225	55313225	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55313225C>A	uc002ixw.1	-	c.349G>T	c.(349-351)GAA>TAA	p.E117*	TUBD1_uc010ddf.1_Nonsense_Mutation_p.E117*|TUBD1_uc010ddg.1_Nonsense_Mutation_p.E82*|TUBD1_uc010ddh.1_5'UTR|TUBD1_uc002ixx.1_Nonsense_Mutation_p.E117*|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	117					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.448148	330.120317	330.754974	121	149	CC		KEEP	---	---	---	---	capture	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Nonsense_Mutation	SNP	55313225	55313225	17317	17	C	A	A	32	32	TUBD1	A	5	3
TUBD1	51174	broad.mit.edu	36	17	55318332	55318332	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55318332C>A	uc002ixw.1	-	c.214G>T	c.(214-216)GTT>TTT	p.V72F	TUBD1_uc010ddf.1_Missense_Mutation_p.V72F|TUBD1_uc010ddg.1_Missense_Mutation_p.V37F|TUBD1_uc010ddh.1_5'UTR|TUBD1_uc002ixx.1_Missense_Mutation_p.V72F|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	72					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.203488	69.917166	83.96865	35	137	CC		KEEP	---	---	---	---	capture	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Missense_Mutation	SNP	55318332	55318332	17317	17	C	A	A	20	20	TUBD1	A	3	3
RPS6KB1	6198	broad.mit.edu	36	17	55344929	55344929	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55344929T>C	uc002ixy.1	+	c.294T>C	c.(292-294)GGT>GGC	p.G98G	RPS6KB1_uc010ddj.1_Silent_p.G98G	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	98	ATP (By similarity).|Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)									182				0.417495	706.888307	709.868982	210	293	TT		KEEP	---	---	---	---	capture	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		Silent	SNP	55344929	55344929	14136	17	T	C	C	57	57	RPS6KB1	C	4	4
HEATR6	63897	broad.mit.edu	36	17	55504393	55504393	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55504393T>G	uc002iyk.1	-	c.664A>C	c.(664-666)AAA>CAA	p.K222Q		NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	222							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.241135	96.78858	105.401411	34	107	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		Missense_Mutation	SNP	55504393	55504393	7316	17	T	G	G	64	64	HEATR6	G	4	4
USP32	84669	broad.mit.edu	36	17	55612754	55612754	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55612754G>A	uc002iyo.1	-	c.4575C>T	c.(4573-4575)GGC>GGT	p.G1525G	USP32_uc002iyn.1_Silent_p.G1195G	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1525					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.409396	162.028797	163.101466	61	88	GG		KEEP	---	---	---	---	capture	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		Silent	SNP	55612754	55612754	17627	17	G	A	A	42	42	USP32	A	2	2
USP32	84669	broad.mit.edu	36	17	55615382	55615382	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55615382G>A	uc002iyo.1	-	c.4049C>T	c.(4048-4050)TCG>TTG	p.S1350L	USP32_uc002iyn.1_Missense_Mutation_p.S1020L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1350					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.215247	97.08801	113.775653	48	175	GG		KEEP	---	---	---	---	capture	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		Missense_Mutation	SNP	55615382	55615382	17627	17	G	A	A	37	37	USP32	A	1	1
USP32	84669	broad.mit.edu	36	17	55615580	55615580	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55615580C>T	uc002iyo.1	-	c.3851G>A	c.(3850-3852)CGA>CAA	p.R1284Q	USP32_uc002iyn.1_Missense_Mutation_p.R954Q	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1284					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.172566	69.579459	92.477673	39	187	CC		KEEP	---	---	---	---	capture	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		Missense_Mutation	SNP	55615580	55615580	17627	17	C	T	T	31	31	USP32	T	1	1
USP32	84669	broad.mit.edu	36	17	55630492	55630492	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55630492C>A	uc002iyo.1	-	c.3345G>T	c.(3343-3345)AAG>AAT	p.K1115N	USP32_uc002iyn.1_Missense_Mutation_p.K785N	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1115					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.441558	366.560209	367.474476	136	172	CC		KEEP	---	---	---	---	capture	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		Missense_Mutation	SNP	55630492	55630492	17627	17	C	A	A	32	32	USP32	A	3	3
USP32	84669	broad.mit.edu	36	17	55651932	55651932	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55651932T>C	uc002iyo.1	-	c.1750_splice	c.e16-1	p.V584_splice	USP32_uc002iyn.1_Splice_Site_SNP_p.V254_splice	NM_032582	NP_115971			ubiquitin specific protease 32						protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.482353	144.679685	144.702238	41	44	TT		KEEP	---	---	---	---	capture	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		Splice_Site_SNP	SNP	55651932	55651932	17627	17	T	C	C	53	53	USP32	C	5	4
USP32	84669	broad.mit.edu	36	17	55668370	55668370	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55668370G>A	uc002iyo.1	-	c.1150C>T	c.(1150-1152)CGA>TGA	p.R384*	USP32_uc002iyn.1_Nonsense_Mutation_p.R54*	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	384	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.477193	364.924881	365.05649	136	149	GG		KEEP	---	---	---	---	capture	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		Nonsense_Mutation	SNP	55668370	55668370	17627	17	G	A	A	40	40	USP32	A	5	1
C17orf64	124773	broad.mit.edu	36	17	55863386	55863386	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55863386G>T	uc002iyq.1	+	c.358G>T	c.(358-360)GAA>TAA	p.E120*		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	hypothetical protein LOC124773	230										breast(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.162791	11.295197	15.945935	7	36	GG		KEEP	---	---	---	---	capture	Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)		Nonsense_Mutation	SNP	55863386	55863386	1929	17	G	T	T	33	33	C17orf64	T	5	3
PPM1D	8493	broad.mit.edu	36	17	56055665	56055665	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56055665G>A	uc002iyt.1	+	c.474G>A	c.(472-474)GCG>GCA	p.A158A	PPM1D_uc010ddm.1_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	158	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.226695	243.990928	276.352907	107	365	GG		KEEP	---	---	---	---	capture	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		Silent	SNP	56055665	56055665	12772	17	G	A	A	39	39	PPM1D	A	1	1
PPM1D	8493	broad.mit.edu	36	17	56095450	56095450	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56095450G>T	uc002iyt.1	+	c.1573G>T	c.(1573-1575)GAA>TAA	p.E525*	PPM1D_uc010ddm.1_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	525					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	0.205556	70.759516	85.248629	37	143	GG		KEEP	---	---	---	---	capture	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		Nonsense_Mutation	SNP	56095450	56095450	12772	17	G	T	T	33	33	PPM1D	T	5	3
BCAS3	54828	broad.mit.edu	36	17	56800629	56800629	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56800629C>T	uc002iyv.2	+	c.2630C>T	c.(2629-2631)TCC>TTC	p.S877F	BCAS3_uc002iyu.2_Missense_Mutation_p.S862F|BCAS3_uc002iyw.2_Missense_Mutation_p.S858F|BCAS3_uc002iyy.2_Missense_Mutation_p.S633F|BCAS3_uc002iyz.2_Missense_Mutation_p.S431F|BCAS3_uc002iza.2_Missense_Mutation_p.S416F|BCAS3_uc002izb.2_Non-coding_Transcript|BCAS3_uc002izc.2_Non-coding_Transcript|BCAS3_uc002izd.2_5'UTR	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	877						nucleus				ovary(2)|central_nervous_system(2)	4														0.195122	33.468935	40.564474	16	66	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		Missense_Mutation	SNP	56800629	56800629	1373	17	C	T	T	30	30	BCAS3	T	2	2
TBX2	6909	broad.mit.edu	36	17	56837598	56837598	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56837598G>A	uc002izf.1	+	c.1275G>A	c.(1273-1275)GGG>GGA	p.G425G	TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.1_Silent_p.G281G	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	435					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding|transcription repressor activity				0						GBM(3;187 253 11467 14965 23079)								0.384615	12.270036	12.422344	5	8	GG		KEEP	---	---	---	---	capture			Silent	SNP	56837598	56837598	16181	17	G	A	A	42	42	TBX2	A	2	2
C17orf82	388407	broad.mit.edu	36	17	56844219	56844219	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56844219C>T	uc002izh.1	+	c.101C>T	c.(100-102)TCC>TTC	p.S34F		NM_203425	NP_982249	Q86X59	CQ082_HUMAN	hypothetical protein LOC388407	34											0												OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.328767	58.132192	60.053013	24	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56844219	56844219	1945	17	C	T	T	30	30	C17orf82	T	2	2
TBX4	9496	broad.mit.edu	36	17	56912237	56912237	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56912237G>T	uc010ddo.1	+	c.796G>T	c.(796-798)GAA>TAA	p.E266*	TBX4_uc002izi.1_Nonsense_Mutation_p.E266*	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	266					leg morphogenesis|regulation of transcription, DNA-dependent|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1														0.216216	107.138828	126.408741	56	203	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	56912237	56912237	16186	17	G	T	T	33	33	TBX4	T	5	3
TBX4	9496	broad.mit.edu	36	17	56915076	56915076	+	Missense_Mutation	SNP	G	A	A	rs61739275	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56915076G>A	uc010ddo.1	+	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q	TBX4_uc002izi.1_Missense_Mutation_p.R352Q	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	352					leg morphogenesis|regulation of transcription, DNA-dependent|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1														0.132353	10.628196	19.558187	9	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56915076	56915076	16186	17	G	A	A	37	37	TBX4	A	1	1
INTS2	57508	broad.mit.edu	36	17	57313255	57313255	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:57313255C>T	uc002izn.1	-	c.2173G>A	c.(2173-2175)GAT>AAT	p.D725N	INTS2_uc002izm.1_Missense_Mutation_p.D717N	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	725					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3														0.258065	78.637627	85.217979	32	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57313255	57313255	8079	17	C	T	T	30	30	INTS2	T	2	2
MED13	9969	broad.mit.edu	36	17	57416909	57416909	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:57416909C>T	uc002izo.1	-	c.2576G>A	c.(2575-2577)AGT>AAT	p.S859N		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	859					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			large_intestine(1)|ovary(1)	2														0.164179	40.058663	54.417133	22	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57416909	57416909	9819	17	C	T	T	20	20	MED13	T	2	2
TLK2	11011	broad.mit.edu	36	17	58039164	58039164	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58039164A>C	uc010ddp.1	+	c.2068A>C	c.(2068-2070)ATC>CTC	p.I690L	TLK2_uc002izx.2_Missense_Mutation_p.I516L|TLK2_uc002izz.2_Missense_Mutation_p.I668L|TLK2_uc002jaa.2_Missense_Mutation_p.I636L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	690	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|protein phosphorylation|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2										505				0.218045	80.316281	90.052493	29	104	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58039164	58039164	16474	17	A	C	C	8	8	TLK2	C	4	4
MRC2	9902	broad.mit.edu	36	17	58109710	58109710	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58109710T>G	uc002jad.1	+	c.2166T>G	c.(2164-2166)TTT>TTG	p.F722L	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.1_5'Flank|MRC2_uc002jaf.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	722	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.385542	101.039079	102.004758	32	51	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58109710	58109710	10150	17	T	G	G	63	63	MRC2	G	4	4
MARCH10	162333	broad.mit.edu	36	17	58167756	58167756	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58167756G>A	uc010dds.1	-	c.1319C>T	c.(1318-1320)TCG>TTG	p.S440L	MARCH10_uc010ddr.1_Missense_Mutation_p.S402L|MARCH10_uc002jag.2_Missense_Mutation_p.S402L|MARCH10_uc002jah.2_Missense_Mutation_p.S401L	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	ring finger protein 190	402							ligase activity|zinc ion binding				0														0.438163	343.849027	344.79236	124	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58167756	58167756	9682	17	G	A	A	37	37	MARCH10	A	1	1
FAM57A	79850	broad.mit.edu	36	17	588026	588026	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:588026C>T	uc002frp.1	+	c.397C>T	c.(397-399)CCA>TCA	p.P133S	FAM57A_uc002frq.1_Missense_Mutation_p.P133S|FAM57A_uc002frr.1_Missense_Mutation_p.P43S	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	133	TLC.|Helical; (Potential).					integral to membrane|plasma membrane					0														0.245399	94.17594	103.762276	40	123	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	Missense_Mutation	SNP	588026	588026	5810	17	C	T	T	26	26	FAM57A	T	2	2
TANC2	26115	broad.mit.edu	36	17	58829919	58829919	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58829919C>A	uc002jal.2	+	c.3021C>A	c.(3019-3021)GTC>GTA	p.V1007V	TANC2_uc002jao.2_Silent_p.V108V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1007	ANK 5.						binding			ovary(2)	2														0.28	16.212992	17.301948	7	18	CC		KEEP	---	---	---	---	capture			Silent	SNP	58829919	58829919	16066	17	C	A	A	32	32	TANC2	A	3	3
TANC2	26115	broad.mit.edu	36	17	58836254	58836254	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58836254G>A	uc002jal.2	+	c.3149G>A	c.(3148-3150)TGC>TAC	p.C1050Y	TANC2_uc002jao.2_Missense_Mutation_p.C151Y	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1050	ANK 6.						binding			ovary(2)	2														0.18	13.936051	18.765406	9	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58836254	58836254	16066	17	G	A	A	46	46	TANC2	A	2	2
CYB561	1534	broad.mit.edu	36	17	58867156	58867156	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58867156C>T	uc002jaq.1	-	c.430G>A	c.(430-432)GCC>ACC	p.A144T	CYB561_uc002jap.1_Missense_Mutation_p.A98T|CYB561_uc002jar.1_Missense_Mutation_p.A98T|CYB561_uc002jas.1_Missense_Mutation_p.A98T|CYB561_uc010ddt.1_Missense_Mutation_p.A98T|CYB561_uc002jat.1_Missense_Mutation_p.A98T	NM_001915	NP_001906	P49447	CY561_HUMAN	cytochrome b-561	98	Helical; (Potential).|Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			ovary(1)	1														0.205674	54.525306	65.83673	29	112	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(1115;0.0689)	Missense_Mutation	SNP	58867156	58867156	4284	17	C	T	T	27	27	CYB561	T	1	1
ACE	1636	broad.mit.edu	36	17	58912770	58912770	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58912770G>A	uc002jau.1	+	c.1057G>A	c.(1057-1059)GAC>AAC	p.D353N	ACE_uc010ddu.1_Missense_Mutation_p.D170N	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme isoform 1	353	Extracellular (Potential).|Peptidase M2 1.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	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)|pancreas(1)	3					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)									0.421053	173.875015	174.700518	64	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58912770	58912770	137	17	G	A	A	37	37	ACE	A	1	1
ACE	1636	broad.mit.edu	36	17	58913576	58913576	+	Missense_Mutation	SNP	G	A	A	rs13306085	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58913576G>A	uc002jau.1	+	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	ACE_uc010ddu.1_Missense_Mutation_p.R196Q|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc002jaw.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme isoform 1	379	Extracellular (Potential).|Peptidase M2 1.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	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)|pancreas(1)	3					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)									0.478261	127.902674	127.939652	44	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58913576	58913576	137	17	G	A	A	39	39	ACE	A	1	1
ACE	1636	broad.mit.edu	36	17	58914976	58914976	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58914976C>T	uc002jau.1	+	c.1621C>T	c.(1621-1623)CAT>TAT	p.H541Y	ACE_uc010ddu.1_Missense_Mutation_p.H358Y|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc002jaw.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme isoform 1	541	Extracellular (Potential).|Peptidase M2 1.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	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)|pancreas(1)	3					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)									0.194757	96.537502	119.754915	52	215	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58914976	58914976	137	17	C	T	T	21	21	ACE	T	2	2
ACE	1636	broad.mit.edu	36	17	58919782	58919782	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58919782C>A	uc002jau.1	+	c.2347C>A	c.(2347-2349)CTG>ATG	p.L783M	ACE_uc002jav.1_Missense_Mutation_p.L209M|ACE_uc010ddv.1_Missense_Mutation_p.L10M|ACE_uc002jaw.1_Non-coding_Transcript	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme isoform 1	783	Extracellular (Potential).|Peptidase M2 2.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	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)|pancreas(1)	3					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)									0.301887	152.019589	159.450504	64	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58919782	58919782	137	17	C	A	A	24	24	ACE	A	3	3
ACE	1636	broad.mit.edu	36	17	58922443	58922443	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58922443G>A	uc002jau.1	+	c.2881G>A	c.(2881-2883)GCC>ACC	p.A961T	ACE_uc002jav.1_Missense_Mutation_p.A387T|ACE_uc010ddv.1_Missense_Mutation_p.A188T|ACE_uc002jaw.1_Non-coding_Transcript	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme isoform 1	961	Extracellular (Potential).|Peptidase M2 2.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	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)|pancreas(1)	3					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)									0.40113	188.378256	189.893143	71	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58922443	58922443	137	17	G	A	A	42	42	ACE	A	2	2
KCNH6	81033	broad.mit.edu	36	17	58955421	58955421	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58955421C>A	uc002jay.1	+	c.266C>A	c.(265-267)GCT>GAT	p.A89D	KCNH6_uc002jax.1_Missense_Mutation_p.A89D|KCNH6_uc002jaz.1_Missense_Mutation_p.A89D	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	89	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction						0					Ibutilide(DB00308)									0.179487	46.092369	61.189319	28	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58955421	58955421	8341	17	C	A	A	28	28	KCNH6	A	3	3
KCNH6	81033	broad.mit.edu	36	17	58965360	58965360	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58965360G>A	uc002jay.1	+	c.1057G>A	c.(1057-1059)GCC>ACC	p.A353T	KCNH6_uc002jax.1_Missense_Mutation_p.A353T|KCNH6_uc002jaz.1_Missense_Mutation_p.A353T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	353	Helical; Name=Segment S3; (Potential).				regulation of transcription, DNA-dependent|signal transduction						0					Ibutilide(DB00308)									0.148352	33.965426	55.536264	27	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58965360	58965360	8341	17	G	A	A	38	38	KCNH6	A	1	1
TACO1	51204	broad.mit.edu	36	17	59035708	59035708	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59035708G>A	uc002jbd.1	+	c.363G>A	c.(361-363)ACG>ACA	p.T121T		NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN	coiled-coil domain containing 44	121					regulation of translation	mitochondrion					0														0.162602	67.230903	93.867067	40	206	GG		KEEP	---	---	---	---	capture			Silent	SNP	59035708	59035708	16025	17	G	A	A	37	37	TACO1	A	1	1
MAP3K3	4215	broad.mit.edu	36	17	59077147	59077147	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59077147G>A	uc002jbe.1	+	c.241G>A	c.(241-243)GAG>AAG	p.E81K	MAP3K3_uc002jbf.1_Missense_Mutation_p.E81K|MAP3K3_uc002jbg.1_Missense_Mutation_p.E50K|MAP3K3_uc002jbh.1_Missense_Mutation_p.E81K|MAP3K3_uc002jbi.1_Missense_Mutation_p.E40K	NM_203351	NP_976226	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	50	OPR.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|large_intestine(1)	4										183				0.141304	17.811022	29.234609	13	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59077147	59077147	9634	17	G	A	A	37	37	MAP3K3	A	1	1
MAP3K3	4215	broad.mit.edu	36	17	59098125	59098125	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59098125G>A	uc002jbe.1	+	c.568G>A	c.(568-570)GAG>AAG	p.E190K	MAP3K3_uc002jbf.1_Missense_Mutation_p.E190K|MAP3K3_uc002jbg.1_Missense_Mutation_p.E159K|MAP3K3_uc002jbh.1_Missense_Mutation_p.E190K|MAP3K3_uc002jbi.1_Missense_Mutation_p.E149K	NM_203351	NP_976226	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	159					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|large_intestine(1)	4										183				0.397059	221.236132	223.12547	81	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59098125	59098125	9634	17	G	A	A	37	37	MAP3K3	A	1	1
MAP3K3	4215	broad.mit.edu	36	17	59116633	59116633	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59116633G>T	uc002jbe.1	+	c.754G>T	c.(754-756)GAA>TAA	p.E252*	MAP3K3_uc002jbf.1_Nonsense_Mutation_p.E252*|MAP3K3_uc002jbg.1_Nonsense_Mutation_p.E221*|MAP3K3_uc002jbh.1_Nonsense_Mutation_p.E252*|MAP3K3_uc002jbi.1_Nonsense_Mutation_p.E211*	NM_203351	NP_976226	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	221					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|large_intestine(1)	4										183				0.131868	22.430909	46.551643	24	158	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	59116633	59116633	9634	17	G	T	T	33	33	MAP3K3	T	5	3
MAP3K3	4215	broad.mit.edu	36	17	59120722	59120722	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59120722G>A	uc002jbe.1	+	c.1051G>A	c.(1051-1053)GAG>AAG	p.E351K	MAP3K3_uc002jbf.1_Missense_Mutation_p.E351K|MAP3K3_uc002jbg.1_Missense_Mutation_p.E320K|MAP3K3_uc002jbh.1_Missense_Mutation_p.E347K|MAP3K3_uc002jbi.1_Missense_Mutation_p.E306K	NM_203351	NP_976226	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	320					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|large_intestine(1)	4										183				0.5	83.570534	83.570534	29	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59120722	59120722	9634	17	G	A	A	37	37	MAP3K3	A	1	1
STRADA	92335	broad.mit.edu	36	17	59138488	59138488	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59138488G>T	uc002jbm.1	-	c.604C>A	c.(604-606)CTG>ATG	p.L202M	STRADA_uc002jbn.1_Missense_Mutation_p.L144M|STRADA_uc002jbo.1_Missense_Mutation_p.L165M|STRADA_uc002jbp.1_Missense_Mutation_p.L165M|STRADA_uc002jbq.1_Missense_Mutation_p.L144M|STRADA_uc010ddw.1_Missense_Mutation_p.L173M|STRADA_uc002jbr.2_Missense_Mutation_p.L144M	NM_001003787	NP_001003788	Q7RTN6	STRAA_HUMAN	protein kinase LYK5 isoform 1	202	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|protein phosphorylation|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1										345				0.398551	147.784728	149.030419	55	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59138488	59138488	15844	17	G	T	T	35	35	STRADA	T	3	3
DDX42	11325	broad.mit.edu	36	17	59218355	59218355	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59218355G>T	uc002jbu.1	+	c.214G>T	c.(214-216)GAA>TAA	p.E72*	DDX42_uc002jbv.1_Nonsense_Mutation_p.E72*	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	72					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|large_intestine(1)	3														0.237037	66.420025	74.962675	32	103	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	59218355	59218355	4533	17	G	T	T	33	33	DDX42	T	5	3
WSCD1	23302	broad.mit.edu	36	17	5924753	5924753	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5924753C>T	uc010cli.1	+	c.51C>T	c.(49-51)TTC>TTT	p.F17F	WSCD1_uc002gcn.1_Silent_p.F17F|WSCD1_uc002gco.1_Silent_p.F17F|WSCD1_uc010clj.1_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	17	Helical; (Potential).					integral to membrane	sulfotransferase activity				0														0.518519	164.693477	164.725284	56	52	CC		KEEP	---	---	---	---	capture			Silent	SNP	5924753	5924753	17980	17	C	T	T	30	30	WSCD1	T	2	2
DDX42	11325	broad.mit.edu	36	17	59249137	59249137	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59249137G>T	uc002jbu.1	+	c.2464G>T	c.(2464-2466)GGA>TGA	p.G822*	DDX42_uc002jbv.1_Nonsense_Mutation_p.G822*|DDX42_uc002jbx.1_Nonsense_Mutation_p.G558*|DDX42_uc002jby.1_Nonsense_Mutation_p.G368*	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	822	Gly-rich.|His-rich.|Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|large_intestine(1)	3														0.221429	69.779837	79.7597	31	109	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	59249137	59249137	4533	17	G	T	T	39	39	DDX42	T	5	3
FTSJ3	117246	broad.mit.edu	36	17	59253098	59253098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59253098G>A	uc002jbz.1	-	c.1453C>T	c.(1453-1455)CAG>TAG	p.Q485*	FTSJ3_uc002jca.1_Nonsense_Mutation_p.Q485*	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	485					rRNA methylation	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1														0.245342	167.515101	186.583949	79	243	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	59253098	59253098	6340	17	G	A	A	45	45	FTSJ3	A	5	2
GH2	2689	broad.mit.edu	36	17	59311817	59311817	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59311817G>A	uc002jcl.1	-	c.503C>T	c.(502-504)TCC>TTC	p.S168F	GH2_uc002jcj.1_Intron|CSH2_uc002jck.1_Intron|GH2_uc002jcm.1_Intron|GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Intron	NM_022557	NP_072051	P01242	SOM2_HUMAN	growth hormone 2 isoform 2	Error:Variant_position_missing_in_P01242_after_alignment						extracellular region	hormone activity			pancreas(1)	1														0.454259	410.956472	411.533673	144	173	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59311817	59311817	6636	17	G	A	A	41	41	GH2	A	2	2
TEX2	55852	broad.mit.edu	36	17	59581959	59581959	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59581959C>A	uc002jed.1	-	c.3256G>T	c.(3256-3258)GAG>TAG	p.E1086*	TEX2_uc002jec.1_Nonsense_Mutation_p.E1079*|TEX2_uc002jee.1_Nonsense_Mutation_p.E1079*	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	1079					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1														0.473684	391.850329	392.025209	144	160	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	Nonsense_Mutation	SNP	59581959	59581959	16308	17	C	A	A	32	32	TEX2	A	5	3
TEX2	55852	broad.mit.edu	36	17	59584137	59584137	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59584137C>T	uc002jed.1	-	c.3061G>A	c.(3061-3063)GAA>AAA	p.E1021K	TEX2_uc002jec.1_Missense_Mutation_p.E1014K|TEX2_uc002jee.1_Missense_Mutation_p.E1014K	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	1014					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1														0.174157	51.915355	69.761029	31	147	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	Missense_Mutation	SNP	59584137	59584137	16308	17	C	T	T	31	31	TEX2	T	1	1
TEX2	55852	broad.mit.edu	36	17	59619361	59619361	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59619361C>T	uc002jed.1	-	c.2344G>A	c.(2344-2346)GAC>AAC	p.D782N	TEX2_uc002jec.1_Missense_Mutation_p.D775N|TEX2_uc002jee.1_Missense_Mutation_p.D775N	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	775					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1														0.176991	63.689203	85.912568	40	186	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	Missense_Mutation	SNP	59619361	59619361	16308	17	C	T	T	31	31	TEX2	T	1	1
TEX2	55852	broad.mit.edu	36	17	59624727	59624727	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59624727C>T	uc002jed.1	-	c.2100G>A	c.(2098-2100)TGG>TGA	p.W700*	TEX2_uc002jec.1_Nonsense_Mutation_p.W700*|TEX2_uc002jee.1_Nonsense_Mutation_p.W700*	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	700					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1														0.151365	96.291991	143.231444	61	342	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	Nonsense_Mutation	SNP	59624727	59624727	16308	17	C	T	T	18	18	TEX2	T	5	2
TEX2	55852	broad.mit.edu	36	17	59624865	59624865	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59624865C>A	uc002jed.1	-	c.1962G>T	c.(1960-1962)GAG>GAT	p.E654D	TEX2_uc002jec.1_Missense_Mutation_p.E654D|TEX2_uc002jee.1_Missense_Mutation_p.E654D	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	654					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1														0.480392	391.25438	391.359082	147	159	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	Missense_Mutation	SNP	59624865	59624865	16308	17	C	A	A	32	32	TEX2	A	3	3
PECAM1	5175	broad.mit.edu	36	17	59801908	59801908	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59801908C>A	uc002jeg.1	-	c.669G>T	c.(667-669)AAG>AAT	p.K223N		NM_000442	NP_000433	P16284	PECA1_HUMAN	platelet/endothelial cell adhesion molecule	223	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell recognition|diapedesis|phagocytosis|platelet activation|platelet degranulation|signal transduction	cell junction|extracellular space|integral to membrane|platelet alpha granule membrane	protein binding				0														0.306122	69.600145	72.893309	30	68	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;1.28e-12)		Missense_Mutation	SNP	59801908	59801908	12136	17	C	A	A	32	32	PECAM1	A	3	3
C17orf60	284021	broad.mit.edu	36	17	59887405	59887405	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59887405G>T	uc002jeh.2	+	c.658G>T	c.(658-660)GAC>TAC	p.D220Y		NM_001085423	NP_001078892	Q7Z6M3	MCA32_HUMAN	hypothetical protein LOC284021	220	Extracellular (Potential).					integral to membrane|plasma membrane					0	Breast(5;6.43e-14)													0.255725	142.558918	156.777409	67	195	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;2.18e-12)		Missense_Mutation	SNP	59887405	59887405	1925	17	G	T	T	33	33	C17orf60	T	3	3
C17orf60	284021	broad.mit.edu	36	17	59893024	59893024	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59893024G>T	uc002jeh.2	+	c.858G>T	c.(856-858)GAG>GAT	p.E286D		NM_001085423	NP_001078892	Q7Z6M3	MCA32_HUMAN	hypothetical protein LOC284021	286	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	Breast(5;6.43e-14)													0.387755	49.809193	50.351512	19	30	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;2.18e-12)		Missense_Mutation	SNP	59893024	59893024	1925	17	G	T	T	35	35	C17orf60	T	3	3
DDX5	1655	broad.mit.edu	36	17	59930839	59930839	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59930839C>A	uc010deh.1	-	c.270G>T	c.(268-270)CCG>CCT	p.P90P	DDX5_uc002jek.1_Silent_p.P90P|DDX5_uc002jel.1_5'Flank|CCDC45_uc002jem.1_5'Flank|CCDC45_uc002jen.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	90					cell growth|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)					NSCLC(22;406 813 4871 19580 40307)								0.370732	218.048422	221.057495	76	129	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		Silent	SNP	59930839	59930839	4538	17	C	A	A	31	31	DDX5	A	3	3
CCDC45	90799	broad.mit.edu	36	17	59953755	59953755	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59953755G>A	uc002jem.1	+	c.1217G>A	c.(1216-1218)GGA>GAA	p.G406E	CCDC45_uc002jen.1_Non-coding_Transcript	NM_138363	NP_612372	Q96GE4	CCD45_HUMAN	coiled-coil domain containing 45	406							protein binding			ovary(1)	1	Breast(5;1.32e-14)													0.188889	33.717983	41.87282	17	73	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		Missense_Mutation	SNP	59953755	59953755	2939	17	G	A	A	41	41	CCDC45	A	2	2
CCDC45	90799	broad.mit.edu	36	17	59961240	59961240	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59961240C>T	uc002jem.1	+	c.1993C>T	c.(1993-1995)CGT>TGT	p.R665C	CCDC45_uc002jen.1_Non-coding_Transcript|CCDC45_uc002jeo.1_Missense_Mutation_p.R97C	NM_138363	NP_612372	Q96GE4	CCD45_HUMAN	coiled-coil domain containing 45	665							protein binding			ovary(1)	1	Breast(5;1.32e-14)													0.294118	60.440308	63.666295	25	60	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		Missense_Mutation	SNP	59961240	59961240	2939	17	C	T	T	31	31	CCDC45	T	1	1
LRRC37A3	374819	broad.mit.edu	36	17	60322698	60322698	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:60322698C>T	uc002jey.1	-	c.1140G>A	c.(1138-1140)CAG>CAA	p.Q380Q		NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	380	Extracellular (Potential).					integral to membrane					0														0.335017	580.182393	594.519363	199	395	CC		KEEP	---	---	---	---	capture			Silent	SNP	60322698	60322698	9368	17	C	T	T	24	24	LRRC37A3	T	2	2
GNA13	10672	broad.mit.edu	36	17	60441260	60441260	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:60441260G>A	uc002jfc.1	-	c.711C>T	c.(709-711)TTC>TTT	p.F237F		NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	237					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0														0.172589	60.124607	80.080662	34	163	GG		KEEP	---	---	---	---	capture			Silent	SNP	60441260	60441260	6770	17	G	A	A	37	37	GNA13	A	1	1
RGS9	8787	broad.mit.edu	36	17	60615882	60615882	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:60615882C>A	uc002jfe.1	+	c.671C>A	c.(670-672)GCT>GAT	p.A224D	RGS9_uc010dem.1_Missense_Mutation_p.A221D|RGS9_uc002jfd.1_Missense_Mutation_p.A221D|RGS9_uc002jff.1_Non-coding_Transcript|RGS9_uc002jfg.1_De_novo_Start_OutOfFrame	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	224	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)	2														0.368421	134.532347	136.559386	49	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60615882	60615882	13787	17	C	A	A	28	28	RGS9	A	3	3
CCDC46	201134	broad.mit.edu	36	17	61328840	61328840	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:61328840G>A	uc002jfl.1	-	c.2055C>T	c.(2053-2055)AGC>AGT	p.S685S	CCDC46_uc010deo.1_Silent_p.S427S|CCDC46_uc010dep.1_Silent_p.S643S	NM_145036	NP_659473	Q8N8E3	CCD46_HUMAN	coiled-coil domain containing 46 isoform a	685	Potential.										0														0.240964	90.423767	100.584091	40	126	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		Silent	SNP	61328840	61328840	2940	17	G	A	A	42	42	CCDC46	A	2	2
CCDC46	201134	broad.mit.edu	36	17	61454931	61454931	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:61454931A>G	uc002jfl.1	-	c.1558T>C	c.(1558-1560)TTA>CTA	p.L520L	CCDC46_uc010deo.1_Silent_p.L262L|CCDC46_uc010dep.1_Silent_p.L478L|CCDC46_uc002jfm.1_Silent_p.L520L	NM_145036	NP_659473	Q8N8E3	CCD46_HUMAN	coiled-coil domain containing 46 isoform a	520	Potential.										0														0.437768	352.83104	353.61524	102	131	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		Silent	SNP	61454931	61454931	2940	17	A	G	G	2	2	CCDC46	G	4	4
CCDC46	201134	broad.mit.edu	36	17	61556348	61556348	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:61556348C>T	uc002jfl.1	-	c.620G>A	c.(619-621)CGC>CAC	p.R207H	CCDC46_uc010dep.1_Missense_Mutation_p.R207H|CCDC46_uc002jfm.1_Missense_Mutation_p.R207H	NM_145036	NP_659473	Q8N8E3	CCD46_HUMAN	coiled-coil domain containing 46 isoform a	207											0														0.380488	205.594407	208.164027	78	127	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		Missense_Mutation	SNP	61556348	61556348	2940	17	C	T	T	27	27	CCDC46	T	1	1
CCDC46	201134	broad.mit.edu	36	17	61609861	61609861	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:61609861C>A	uc002jfl.1	-	c.19G>T	c.(19-21)GAA>TAA	p.E7*	CCDC46_uc010dep.1_Nonsense_Mutation_p.E7*|CCDC46_uc002jfm.1_Nonsense_Mutation_p.E7*	NM_145036	NP_659473	Q8N8E3	CCD46_HUMAN	coiled-coil domain containing 46 isoform a	7											0														0.431655	159.360443	159.929679	60	79	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		Nonsense_Mutation	SNP	61609861	61609861	2940	17	C	A	A	32	32	CCDC46	A	5	3
APOH	350	broad.mit.edu	36	17	61655898	61655898	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:61655898C>T	uc002jfn.2	-	c.62G>A	c.(61-63)CGG>CAG	p.R21Q		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	21	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0						Melanoma(155;624 1882 16869 48804 51309)								0.451613	89.393443	89.519846	28	34	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		Missense_Mutation	SNP	61655898	61655898	815	17	C	T	T	23	23	APOH	T	1	1
PRKCA	5578	broad.mit.edu	36	17	61729545	61729545	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:61729545A>T	uc002jfp.1	+	c.114A>T	c.(112-114)AAA>AAT	p.K38N	PRKCA_uc002jfo.1_5'UTR	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	38	Phorbol-ester/DAG-type 1.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|ovary(1)	7					Phosphatidylserine(DB00144)|Vitamin E(DB00163)					554				0.174528	61.956824	83.066501	37	175	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Missense_Mutation	SNP	61729545	61729545	12950	17	A	T	T	4	4	PRKCA	T	4	4
PRKCA	5578	broad.mit.edu	36	17	62159347	62159347	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62159347G>A	uc002jfp.1	+	c.998G>A	c.(997-999)CGA>CAA	p.R333Q	PRKCA_uc002jfo.1_Missense_Mutation_p.R204Q	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	333					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|ovary(1)	7					Phosphatidylserine(DB00144)|Vitamin E(DB00163)					554				0.498753	580.763189	580.763822	200	201	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Missense_Mutation	SNP	62159347	62159347	12950	17	G	A	A	37	37	PRKCA	A	1	1
PRKCA	5578	broad.mit.edu	36	17	62165347	62165347	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62165347C>A	uc002jfp.1	+	c.1234C>A	c.(1234-1236)CGG>AGG	p.R412R	PRKCA_uc002jfo.1_Silent_p.R283R	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	412	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|ovary(1)	7					Phosphatidylserine(DB00144)|Vitamin E(DB00163)					554				0.359155	135.677554	138.160973	51	91	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Silent	SNP	62165347	62165347	12950	17	C	A	A	31	31	PRKCA	A	3	3
PRKCA	5578	broad.mit.edu	36	17	62213535	62213535	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62213535C>A	uc002jfp.1	+	c.1694C>A	c.(1693-1695)GCT>GAT	p.A565D		NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	565	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|ovary(1)	7					Phosphatidylserine(DB00144)|Vitamin E(DB00163)					554				0.529762	260.765078	260.893238	89	79	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Missense_Mutation	SNP	62213535	62213535	12950	17	C	A	A	28	28	PRKCA	A	3	3
CACNG1	786	broad.mit.edu	36	17	62471431	62471431	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62471431G>A	uc002jfu.1	+	c.193G>A	c.(193-195)GAC>AAC	p.D65N		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	65					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)									0.39759	87.446915	88.211341	33	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62471431	62471431	2672	17	G	A	A	37	37	CACNG1	A	1	1
HELZ	9931	broad.mit.edu	36	17	62534177	62534177	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62534177A>C	uc002jfx.2	-	c.4811T>G	c.(4810-4812)CTT>CGT	p.L1604R	HELZ_uc002jfv.2_Non-coding_Transcript	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)													0.455729	506.160202	506.817728	175	209	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62534177	62534177	7332	17	A	C	C	3	3	HELZ	C	4	4
HELZ	9931	broad.mit.edu	36	17	62549641	62549641	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62549641G>A	uc002jfx.2	-	c.3537C>T	c.(3535-3537)AGC>AGT	p.S1179S	HELZ_uc002jfv.2_Non-coding_Transcript	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)													0.482234	265.401108	265.455439	95	102	GG		KEEP	---	---	---	---	capture			Silent	SNP	62549641	62549641	7332	17	G	A	A	42	42	HELZ	A	2	2
HELZ	9931	broad.mit.edu	36	17	62616235	62616235	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62616235G>A	uc002jfx.2	-	c.796C>T	c.(796-798)CCT>TCT	p.P266S	HELZ_uc002jfv.2_Non-coding_Transcript	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)													0.222222	123.35455	141.25434	56	196	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62616235	62616235	7332	17	G	A	A	41	41	HELZ	A	2	2
PSMD12	5718	broad.mit.edu	36	17	62773973	62773973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62773973G>A	uc002jfy.1	-	c.601C>T	c.(601-603)CGA>TGA	p.R201*	PSMD12_uc002jfz.1_Nonsense_Mutation_p.R142*|PSMD12_uc002jga.1_Nonsense_Mutation_p.R181*|PSMD12_uc010det.1_Nonsense_Mutation_p.R201*	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)													0.253886	114.677641	125.293492	49	144	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	62773973	62773973	13148	17	G	A	A	37	37	PSMD12	A	5	1
PSMD12	5718	broad.mit.edu	36	17	62783918	62783918	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62783918A>C	uc002jfy.1	-	c.260T>G	c.(259-261)ATT>AGT	p.I87S	PSMD12_uc002jfz.1_Missense_Mutation_p.I28S|PSMD12_uc002jga.1_Missense_Mutation_p.I67S|PSMD12_uc010det.1_Missense_Mutation_p.I87S	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)													0.214286	68.761842	78.255317	27	99	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62783918	62783918	13148	17	A	C	C	4	4	PSMD12	C	4	4
PSMD12	5718	broad.mit.edu	36	17	62793016	62793016	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:62793016G>T	uc002jfy.1	-	c.82C>A	c.(82-84)CTA>ATA	p.L28I	PSMD12_uc002jfz.1_5'UTR|PSMD12_uc002jga.1_Missense_Mutation_p.L28I|PSMD12_uc010det.1_Missense_Mutation_p.L28I	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)													0.173913	13.078611	17.691918	8	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62793016	62793016	13148	17	G	T	T	35	35	PSMD12	T	3	3
NOL11	25926	broad.mit.edu	36	17	63144614	63144614	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63144614A>G	uc002jgd.1	+	c.89A>G	c.(88-90)AAA>AGA	p.K30R	NOL11_uc010deu.1_5'Flank	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	30						nucleolus					0	all_cancers(12;1.54e-10)											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.429577	212.765235	213.376867	61	81	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		Missense_Mutation	SNP	63144614	63144614	10924	17	A	G	G	1	1	NOL11	G	4	4
NOL11	25926	broad.mit.edu	36	17	63163659	63163659	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63163659G>A	uc002jgd.1	+	c.1154G>A	c.(1153-1155)CGA>CAA	p.R385Q	NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	385						nucleolus					0	all_cancers(12;1.54e-10)													0.455224	174.98528	175.214824	61	73	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		Missense_Mutation	SNP	63163659	63163659	10924	17	G	A	A	37	37	NOL11	A	1	1
PITPNM3	83394	broad.mit.edu	36	17	6327651	6327651	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6327651C>T	uc002gdd.2	-	c.497G>A	c.(496-498)CGA>CAA	p.R166Q	PITPNM3_uc002gdc.2_5'Flank|PITPNM3_uc010cln.1_Missense_Mutation_p.R130Q	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	166					phosphatidylinositol metabolic process|response to stimulus|visual perception	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4														0.491667	166.095151	166.102837	59	61	CC		KEEP	---	---	---	---	capture		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	Missense_Mutation	SNP	6327651	6327651	12376	17	C	T	T	31	31	PITPNM3	T	1	1
PITPNM3	83394	broad.mit.edu	36	17	6327727	6327727	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6327727C>A	uc002gdd.2	-	c.421G>T	c.(421-423)GAC>TAC	p.D141Y	PITPNM3_uc002gdc.2_5'Flank|PITPNM3_uc010cln.1_Missense_Mutation_p.D105Y	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	141					phosphatidylinositol metabolic process|response to stimulus|visual perception	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4														0.38255	142.019751	143.828052	57	92	CC		KEEP	---	---	---	---	capture		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	Missense_Mutation	SNP	6327727	6327727	12376	17	C	A	A	30	30	PITPNM3	A	3	3
BPTF	2186	broad.mit.edu	36	17	63281161	63281161	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63281161A>G	uc002jgf.1	+	c.1257A>G	c.(1255-1257)CCA>CCG	p.P419P	BPTF_uc002jge.1_Silent_p.P419P	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	419	PHD-type 1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)													0.171429	108.990535	141.11236	54	261	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		Silent	SNP	63281161	63281161	1523	17	A	G	G	6	6	BPTF	G	4	4
BPTF	2186	broad.mit.edu	36	17	63301547	63301547	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63301547G>T	uc002jgf.1	+	c.1813G>T	c.(1813-1815)GAC>TAC	p.D605Y	BPTF_uc002jge.1_Missense_Mutation_p.D605Y	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	718	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)													0.398907	189.724844	191.36348	73	110	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		Missense_Mutation	SNP	63301547	63301547	1523	17	G	T	T	33	33	BPTF	T	3	3
RNMTL1	55178	broad.mit.edu	36	17	633174	633174	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:633174C>A	uc002frw.1	+	c.416C>A	c.(415-417)GCT>GAT	p.A139D	GLOD4_uc002fru.1_5'Flank|GLOD4_uc002frv.1_5'Flank	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	139					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1														0.177419	38.854972	50.949691	22	102	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	Missense_Mutation	SNP	633174	633174	13986	17	C	A	A	28	28	RNMTL1	A	3	3
BPTF	2186	broad.mit.edu	36	17	63338041	63338041	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63338041C>A	uc002jgf.1	+	c.3579C>A	c.(3577-3579)GTC>GTA	p.V1193V	BPTF_uc002jge.1_Silent_p.V1319V	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1319					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)													0.295918	69.128075	72.784463	29	69	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		Silent	SNP	63338041	63338041	1523	17	C	A	A	32	32	BPTF	A	3	3
BPTF	2186	broad.mit.edu	36	17	63338310	63338310	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63338310C>A	uc002jgf.1	+	c.3848C>A	c.(3847-3849)TCT>TAT	p.S1283Y	BPTF_uc002jge.1_Missense_Mutation_p.S1409Y	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1409					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)													0.168627	69.645837	96.186986	43	212	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		Missense_Mutation	SNP	63338310	63338310	1523	17	C	A	A	32	32	BPTF	A	3	3
BPTF	2186	broad.mit.edu	36	17	63386408	63386408	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63386408A>G	uc002jgf.1	+	c.8216A>G	c.(8215-8217)GAC>GGC	p.D2739G	BPTF_uc002jge.1_Missense_Mutation_p.D2722G|BPTF_uc002jgg.1_Missense_Mutation_p.D396G|BPTF_uc002jgh.2_Missense_Mutation_p.D198G	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2865					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)													0.434109	189.691069	190.177352	56	73	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		Missense_Mutation	SNP	63386408	63386408	1523	17	A	G	G	10	10	BPTF	G	4	4
PITPNM3	83394	broad.mit.edu	36	17	6369453	6369453	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6369453G>A	uc002gdd.2	-	c.173C>T	c.(172-174)TCC>TTC	p.S58F	PITPNM3_uc010cln.1_Intron	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	58					phosphatidylinositol metabolic process|response to stimulus|visual perception	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4														0.371901	242.304009	245.785182	90	152	GG		KEEP	---	---	---	---	capture		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	Missense_Mutation	SNP	6369453	6369453	12376	17	G	A	A	41	41	PITPNM3	A	2	2
ARSG	22901	broad.mit.edu	36	17	63851422	63851422	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63851422G>T	uc002jhc.2	+	c.301G>T	c.(301-303)GGA>TGA	p.G101*	ARSG_uc002jhb.1_5'UTR	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G	101					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1														0.183206	42.615828	54.966084	24	107	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		Nonsense_Mutation	SNP	63851422	63851422	1010	17	G	T	T	47	47	ARSG	T	5	3
WIPI1	55062	broad.mit.edu	36	17	63943381	63943381	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63943381G>A	uc010dey.1	-	c.596C>T	c.(595-597)TCC>TTC	p.S199F	WIPI1_uc002jhd.2_Non-coding_Transcript|WIPI1_uc002jhe.2_Non-coding_Transcript	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting	199	WD 1.				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding				0												OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.407273	317.549986	319.614507	112	163	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63943381	63943381	17944	17	G	A	A	41	41	WIPI1	A	2	2
KIAA0753	9851	broad.mit.edu	36	17	6434638	6434638	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6434638G>A	uc002gde.2	-	c.2477C>T	c.(2476-2478)TCT>TTT	p.S826F	KIAA0753_uc010clo.1_Missense_Mutation_p.S527F	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	826											0														0.176471	55.6367	72.416972	30	140	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(228;0.157)	Missense_Mutation	SNP	6434638	6434638	8498	17	G	A	A	33	33	KIAA0753	A	2	2
ABCA8	10351	broad.mit.edu	36	17	64388925	64388925	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64388925T>C	uc002jhq.1	-	c.3969A>G	c.(3967-3969)GGA>GGG	p.G1323G	ABCA8_uc002jhp.1_Silent_p.G1283G	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1283	ABC transporter 2.|ATP 2 (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.207792	84.021306	96.195628	32	122	TT		KEEP	---	---	---	---	capture			Silent	SNP	64388925	64388925	39	17	T	C	C	58	58	ABCA8	C	4	4
ABCA8	10351	broad.mit.edu	36	17	64389618	64389618	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64389618G>T	uc002jhq.1	-	c.3927C>A	c.(3925-3927)GTC>GTA	p.V1309V	ABCA8_uc002jhp.1_Silent_p.V1269V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1269	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.445344	291.684389	292.331559	110	137	GG		KEEP	---	---	---	---	capture			Silent	SNP	64389618	64389618	39	17	G	T	T	33	33	ABCA8	T	3	3
KIAA0753	9851	broad.mit.edu	36	17	6440220	6440220	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6440220G>A	uc002gde.2	-	c.2340C>T	c.(2338-2340)CGC>CGT	p.R780R	KIAA0753_uc010clo.1_Silent_p.R481R	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	780											0														0.224599	182.99756	209.074461	84	290	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(228;0.157)	Silent	SNP	6440220	6440220	8498	17	G	A	A	42	42	KIAA0753	A	2	2
ABCA8	10351	broad.mit.edu	36	17	64436911	64436911	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64436911G>A	uc002jhq.1	-	c.999C>T	c.(997-999)GTC>GTT	p.V333V	ABCA8_uc002jhp.1_Silent_p.V333V|ABCA8_uc002jhr.1_Silent_p.V14V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	333	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.439655	143.204964	143.573476	51	65	GG		KEEP	---	---	---	---	capture			Silent	SNP	64436911	64436911	39	17	G	A	A	37	37	ABCA8	A	1	1
ABCA9	10350	broad.mit.edu	36	17	64541581	64541581	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64541581G>T	uc002jhu.1	-	c.1157C>A	c.(1156-1158)TCT>TAT	p.S386Y	ABCA9_uc010dez.1_Missense_Mutation_p.S386Y	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	386					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|central_nervous_system(1)	5	Breast(10;1.47e-12)													0.404531	333.084432	335.554014	125	184	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64541581	64541581	40	17	G	T	T	33	33	ABCA9	T	3	3
ABCA9	10350	broad.mit.edu	36	17	64558776	64558776	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64558776C>A	uc002jhu.1	-	c.87G>T	c.(85-87)CAG>CAT	p.Q29H	ABCA9_uc010dez.1_Missense_Mutation_p.Q29H|ABCA9_uc002jhv.1_Missense_Mutation_p.Q29H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	29					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|central_nervous_system(1)	5	Breast(10;1.47e-12)													0.1875	36.61085	46.855693	21	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64558776	64558776	40	17	C	A	A	32	32	ABCA9	A	3	3
KIAA0753	9851	broad.mit.edu	36	17	6472381	6472381	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6472381G>A	uc002gde.2	-	c.498C>T	c.(496-498)ATC>ATT	p.I166I	KIAA0753_uc010clo.1_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	166											0														0.207048	100.986743	119.052632	47	180	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(228;0.157)	Silent	SNP	6472381	6472381	8498	17	G	A	A	33	33	KIAA0753	A	2	2
ABCA5	23461	broad.mit.edu	36	17	64758248	64758248	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64758248C>A	uc002jif.1	-	c.4645G>T	c.(4645-4647)GAA>TAA	p.E1549*	ABCA5_uc002jib.1_Nonsense_Mutation_p.E515*|ABCA5_uc002jic.1_Nonsense_Mutation_p.E772*|ABCA5_uc002jid.1_Nonsense_Mutation_p.E466*|ABCA5_uc002jie.1_Non-coding_Transcript|ABCA5_uc002jig.1_Nonsense_Mutation_p.E1549*	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1549					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation|reverse cholesterol transport	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;3.72e-11)													0.252688	97.586407	107.964136	47	139	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	64758248	64758248	36	17	C	A	A	32	32	ABCA5	A	5	3
ABCA5	23461	broad.mit.edu	36	17	64762190	64762190	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64762190C>T	uc002jif.1	-	c.4105G>A	c.(4105-4107)GAT>AAT	p.D1369N	ABCA5_uc002jib.1_Missense_Mutation_p.D335N|ABCA5_uc002jic.1_Missense_Mutation_p.D592N|ABCA5_uc002jid.1_Missense_Mutation_p.D286N|ABCA5_uc002jie.1_Non-coding_Transcript|ABCA5_uc002jig.1_Missense_Mutation_p.D1369N	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1369	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation|reverse cholesterol transport	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;3.72e-11)													0.481675	291.288759	291.34471	92	99	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64762190	64762190	36	17	C	T	T	32	32	ABCA5	T	2	2
NXN	64359	broad.mit.edu	36	17	651001	651001	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:651001C>T	uc002fsa.1	-	c.1246G>A	c.(1246-1248)GCC>ACC	p.A416T	NXN_uc002fry.1_Missense_Mutation_p.A167T|NXN_uc002frz.1_Missense_Mutation_p.A167T	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	416					cell differentiation|cell redox homeostasis|multicellular organismal development|oxidation-reduction process|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4														0.414474	164.076936	165.0514	63	89	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	Missense_Mutation	SNP	651001	651001	11192	17	C	T	T	27	27	NXN	T	1	1
SLC13A5	284111	broad.mit.edu	36	17	6550686	6550686	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6550686G>A	uc002gdj.1	-	c.367C>T	c.(367-369)CGG>TGG	p.R123W	SLC13A5_uc002gdk.1_Missense_Mutation_p.R123C|SLC13A5_uc010clq.1_Missense_Mutation_p.R80W|SLC13A5_uc002gdl.1_5'Flank	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	123						integral to membrane	citrate transmembrane transporter activity				0														0.442623	72.913586	73.088637	27	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6550686	6550686	14890	17	G	A	A	40	40	SLC13A5	A	1	1
KCNJ16	3773	broad.mit.edu	36	17	65640714	65640714	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:65640714C>T	uc002jiq.1	+	c.987C>T	c.(985-987)AGC>AGT	p.S329S	KCNJ16_uc002jin.1_Silent_p.S297S|KCNJ16_uc002jio.1_Silent_p.S297S|KCNJ16_uc002jip.1_Silent_p.S297S|KCNJ16_uc010dff.1_Silent_p.S297S	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	297	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)	2	Breast(10;2.96e-09)													0.215152	164.433546	189.157895	71	259	CC		KEEP	---	---	---	---	capture			Silent	SNP	65640714	65640714	8355	17	C	T	T	28	28	KCNJ16	T	2	2
KCNJ2	3759	broad.mit.edu	36	17	65682983	65682983	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:65682983G>A	uc010dfg.1	+	c.208G>A	c.(208-210)GCA>ACA	p.A70T	KCNJ2_uc002jir.1_Missense_Mutation_p.A70T|KCNJ2_uc010dfh.1_Missense_Mutation_p.A70T	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	70	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)													0.429825	267.102447	268.083163	98	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65682983	65682983	8356	17	G	A	A	38	38	KCNJ2	A	1	1
FBXO39	162517	broad.mit.edu	36	17	6624181	6624181	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6624181G>A	uc002gds.1	+	c.270G>A	c.(268-270)GAG>GAA	p.E90E		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	90										ovary(1)	1														0.22905	189.044981	213.165948	82	276	GG		KEEP	---	---	---	---	capture			Silent	SNP	6624181	6624181	5984	17	G	A	A	34	34	FBXO39	A	2	2
FBXO39	162517	broad.mit.edu	36	17	6630948	6630948	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6630948G>A	uc002gds.1	+	c.1149G>A	c.(1147-1149)GAG>GAA	p.E383E	FBXO39_uc010cls.1_Non-coding_Transcript	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	383										ovary(1)	1														0.432099	310.569703	311.538664	105	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	6630948	6630948	5984	17	G	A	A	34	34	FBXO39	A	2	2
TEKT1	83659	broad.mit.edu	36	17	6644255	6644255	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6644255C>T	uc002gdt.1	-	c.1072G>A	c.(1072-1074)GCT>ACT	p.A358T		NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	358	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)	1		Myeloproliferative disorder(207;0.0255)												0.274882	153.850438	163.486539	58	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6644255	6644255	16279	17	C	T	T	28	28	TEKT1	T	2	2
SOX9	6662	broad.mit.edu	36	17	67629286	67629286	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:67629286C>A	uc002jiw.1	+	c.159C>A	c.(157-159)TTC>TTA	p.F53L		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	53					negative regulation of gene-specific transcription|positive regulation of branching involved in ureteric bud morphogenesis|renal vesicle induction|signal transduction	nucleus	specific RNA polymerase II transcription factor activity|transcription repressor activity				0		Colorectal(1115;0.245)				Pancreas(42;83 1041 2320 35205 39456)								0.233333	14.107184	16.062623	7	23	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(260;0.119)		Missense_Mutation	SNP	67629286	67629286	15458	17	C	A	A	30	30	SOX9	A	3	3
BCL6B	255877	broad.mit.edu	36	17	6871601	6871601	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6871601G>A	uc010clt.1	+	c.1382G>A	c.(1381-1383)CGC>CAC	p.R461H	BCL6B_uc002geg.2_Missense_Mutation_p.R460H	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	460	C2H2-type 5.					nucleus	zinc ion binding			skin(1)	1														0.428571	206.398752	207.199022	81	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6871601	6871601	1398	17	G	A	A	38	38	BCL6B	A	1	1
C17orf80	55028	broad.mit.edu	36	17	68744299	68744299	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:68744299G>A	uc002jjm.2	+	c.1083G>A	c.(1081-1083)ACG>ACA	p.T361T	C17orf80_uc010dfj.1_Silent_p.T361T|C17orf80_uc002jjk.1_Silent_p.T361T|C17orf80_uc002jjl.2_Silent_p.T361T	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	361	Extracellular (Potential).					integral to membrane					0														0.449367	203.438436	203.78501	71	87	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(166;0.197)		Silent	SNP	68744299	68744299	1943	17	G	A	A	37	37	C17orf80	A	1	1
SDK2	54549	broad.mit.edu	36	17	68858463	68858463	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:68858463G>A	uc010dfm.1	-	c.4692C>T	c.(4690-4692)GGC>GGT	p.G1564G	SDK2_uc002jjt.2_Silent_p.G1080G			Q58EX2	SDK2_HUMAN	Uncharacterized protein SDK2.	1940	Helical; (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.449393	318.920654	319.465997	111	136	GG		KEEP	---	---	---	---	capture			Silent	SNP	68858463	68858463	14455	17	G	A	A	42	42	SDK2	A	2	2
SDK2	54549	broad.mit.edu	36	17	68865825	68865825	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:68865825C>T	uc010dfm.1	-	c.4453G>A	c.(4453-4455)GCC>ACC	p.A1485T	SDK2_uc010dfn.1_Missense_Mutation_p.A1485T|SDK2_uc002jjt.2_Missense_Mutation_p.A1001T			Q58EX2	SDK2_HUMAN	Uncharacterized protein SDK2.	1861	Fibronectin type-III 13.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.457064	460.285986	460.85504	165	196	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68865825	68865825	14455	17	C	T	T	26	26	SDK2	T	2	2
SDK2	54549	broad.mit.edu	36	17	68886998	68886998	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:68886998G>A	uc010dfm.1	-	c.3765C>T	c.(3763-3765)GTC>GTT	p.V1255V	SDK2_uc010dfn.1_Silent_p.V1255V|SDK2_uc002jjt.2_Silent_p.V771V			Q58EX2	SDK2_HUMAN	Uncharacterized protein SDK2.	1631	Fibronectin type-III 11.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.272727	6.719301	7.232129	3	8	GG		KEEP	---	---	---	---	capture			Silent	SNP	68886998	68886998	14455	17	G	A	A	37	37	SDK2	A	1	1
ASGR2	433	broad.mit.edu	36	17	6958265	6958265	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:6958265C>A	uc002gep.2	-	c.19G>T	c.(19-21)GAT>TAT	p.D7Y	ASGR2_uc002gem.1_5'UTR|ASGR2_uc002gen.1_Missense_Mutation_p.D7Y|ASGR2_uc002geo.1_Missense_Mutation_p.D7Y|ASGR2_uc002ger.2_Missense_Mutation_p.D7Y|ASGR2_uc002geq.2_Missense_Mutation_p.D7Y|ASGR2_uc010clw.1_Missense_Mutation_p.D7Y	NM_001181	NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2 isoform a	7	Endocytosis signal (Potential).|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			ovary(1)	1					Antihemophilic Factor(DB00025)									0.505952	230.764575	230.768365	85	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6958265	6958265	1059	17	C	A	A	32	32	ASGR2	A	3	3
TTYH2	94015	broad.mit.edu	36	17	69738655	69738655	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69738655C>T	uc002jkc.1	+	c.336C>T	c.(334-336)AGC>AGT	p.S112S		NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	112	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4														0.402439	172.127436	173.487581	66	98	CC		KEEP	---	---	---	---	capture			Silent	SNP	69738655	69738655	17295	17	C	T	T	27	27	TTYH2	T	1	1
TTYH2	94015	broad.mit.edu	36	17	69751736	69751736	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69751736C>T	uc002jkc.1	+	c.757C>T	c.(757-759)CTG>TTG	p.L253L		NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	253	Helical; Name=4; (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4														0.222222	59.055829	66.712406	24	84	CC		KEEP	---	---	---	---	capture			Silent	SNP	69751736	69751736	17295	17	C	T	T	24	24	TTYH2	T	2	2
TTYH2	94015	broad.mit.edu	36	17	69757717	69757717	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69757717C>T	uc002jkc.1	+	c.978C>T	c.(976-978)GTC>GTT	p.V326V	TTYH2_uc002jkd.1_Silent_p.V5V	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	326	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4														0.455598	324.943964	325.383372	118	141	CC		KEEP	---	---	---	---	capture			Silent	SNP	69757717	69757717	17295	17	C	T	T	31	31	TTYH2	T	1	1
TTYH2	94015	broad.mit.edu	36	17	69759979	69759979	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69759979C>T	uc002jkc.1	+	c.1128C>T	c.(1126-1128)GAC>GAT	p.D376D	TTYH2_uc002jkd.1_Silent_p.D55D	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	376	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4														0.192453	90.262157	113.687774	51	214	CC		KEEP	---	---	---	---	capture			Silent	SNP	69759979	69759979	17295	17	C	T	T	19	19	TTYH2	T	1	1
KIF19	124602	broad.mit.edu	36	17	69852014	69852014	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69852014C>T	uc002jkm.2	+	c.514C>T	c.(514-516)CGG>TGG	p.R172W	KIF19_uc002jkj.2_Missense_Mutation_p.R172W|KIF19_uc002jkk.2_Intron|KIF19_uc002jkl.2_Intron	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	172	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.460784	130.810705	130.947418	47	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69852014	69852014	8593	17	C	T	T	27	27	KIF19	T	1	1
KIF19	124602	broad.mit.edu	36	17	69852660	69852660	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69852660G>A	uc002jkm.2	+	c.748G>A	c.(748-750)GAC>AAC	p.D250N	KIF19_uc002jkj.2_Missense_Mutation_p.D250N|KIF19_uc002jkk.2_Missense_Mutation_p.D208N|KIF19_uc002jkl.2_Missense_Mutation_p.D208N	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	250	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.516129	43.393721	43.400509	16	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69852660	69852660	8593	17	G	A	A	37	37	KIF19	A	1	1
KIF19	124602	broad.mit.edu	36	17	69858184	69858184	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69858184G>T	uc002jkm.2	+	c.1263G>T	c.(1261-1263)CAG>CAT	p.Q421H	KIF19_uc002jkj.2_Missense_Mutation_p.Q421H|KIF19_uc002jkk.2_Missense_Mutation_p.Q379H|KIF19_uc002jkl.2_Missense_Mutation_p.Q379H	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	421					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.45	22.645187	22.691132	9	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69858184	69858184	8593	17	G	T	T	34	34	KIF19	T	3	3
GPR142	350383	broad.mit.edu	36	17	69875330	69875330	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69875330T>C	uc010dfq.1	+	c.82T>C	c.(82-84)TAT>CAT	p.Y28H	GPR142_uc002jko.1_Missense_Mutation_p.Y31H	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	31	Extracellular (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3														0.449367	240.823681	241.173603	71	87	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69875330	69875330	6924	17	T	C	C	49	49	GPR142	C	4	4
GPR142	350383	broad.mit.edu	36	17	69878337	69878337	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69878337C>T	uc010dfq.1	+	c.432C>T	c.(430-432)ATC>ATT	p.I144I	GPR142_uc002jko.1_Silent_p.I147I	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	147	Extracellular (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3														0.215385	57.027602	66.750743	28	102	CC		KEEP	---	---	---	---	capture			Silent	SNP	69878337	69878337	6924	17	C	T	T	31	31	GPR142	T	1	1
CD300E	342510	broad.mit.edu	36	17	70124888	70124888	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70124888C>T	uc002jlb.1	-	c.352G>A	c.(352-354)GAT>AAT	p.D118N		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	CD300e molecule	118	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|ovary(1)	2														0.313364	171.597637	178.339263	68	149	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70124888	70124888	3126	17	C	T	T	31	31	CD300E	T	1	1
TMEM104	54868	broad.mit.edu	36	17	70343990	70343990	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70343990C>T	uc002jls.2	+	c.1060C>T	c.(1060-1062)CGC>TGC	p.R354C	TMEM104_uc010dfx.1_Missense_Mutation_p.R354C	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	354	Extracellular (Potential).					integral to membrane					0	all_lung(278;0.23)													0.439394	549.421188	550.883879	203	259	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70343990	70343990	16548	17	C	T	T	27	27	TMEM104	T	1	1
GRIN2C	2905	broad.mit.edu	36	17	70359876	70359876	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70359876C>T	uc002jlt.1	-	c.869G>A	c.(868-870)CGC>CAC	p.R290H	GRIN2C_uc002jlu.1_Missense_Mutation_p.R290H|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	290	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)									0.625	15.077356	15.187737	5	3	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70359876	70359876	7060	17	C	T	T	27	27	GRIN2C	T	1	1
FADS6	283985	broad.mit.edu	36	17	70386191	70386191	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70386191A>C	uc002jmd.1	-	c.917T>G	c.(916-918)GTG>GGG	p.V306G		NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	fatty acid desaturase domain family, member 6	312					fatty acid biosynthetic process|oxidation-reduction process	integral to membrane	oxidoreductase activity				0	all_lung(278;0.172)|Lung NSC(278;0.207)													0.194175	48.450489	57.437709	20	83	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70386191	70386191	5565	17	A	C	C	6	6	FADS6	C	4	4
DLG4	1742	broad.mit.edu	36	17	7040282	7040282	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7040282T>C	uc002get.2	-	c.1411A>G	c.(1411-1413)AAA>GAA	p.K471E	DLG4_uc010cly.1_Missense_Mutation_p.K425E	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	428	SH3.				axon guidance|learning|protein complex assembly|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2														0.257812	94.128398	100.923208	33	95	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7040282	7040282	4737	17	T	C	C	63	63	DLG4	C	4	4
OTOP2	92736	broad.mit.edu	36	17	70438140	70438140	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70438140C>T	uc002jmg.1	+	c.815C>T	c.(814-816)ACC>ATC	p.T272I		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	272						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)													0.144654	51.583957	90.397108	46	272	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70438140	70438140	11718	17	C	T	T	18	18	OTOP2	T	2	2
OTOP2	92736	broad.mit.edu	36	17	70438716	70438716	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70438716C>T	uc002jmg.1	+	c.1391C>T	c.(1390-1392)CCC>CTC	p.P464L		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	464						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)													0.159851	76.237039	105.906101	43	226	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70438716	70438716	11718	17	C	T	T	22	22	OTOP2	T	2	2
OTOP3	347741	broad.mit.edu	36	17	70451303	70451303	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70451303C>A	uc002jmh.1	+	c.694C>A	c.(694-696)CTG>ATG	p.L232M		NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	232	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)													0.23301	51.440765	58.168648	24	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70451303	70451303	11719	17	C	A	A	24	24	OTOP3	A	3	3
C17orf28	283987	broad.mit.edu	36	17	70460033	70460033	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70460033C>T	uc002jmj.2	-	c.2070G>A	c.(2068-2070)TCG>TCA	p.S690S	C17orf28_uc002jmi.1_Silent_p.S92S	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	690						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)													0.212766	20.434122	24.011208	10	37	CC		KEEP	---	---	---	---	capture			Silent	SNP	70460033	70460033	1909	17	C	T	T	31	31	C17orf28	T	1	1
ICT1	3396	broad.mit.edu	36	17	70520549	70520549	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70520549C>T	uc002jmm.1	+	c.173C>T	c.(172-174)GCC>GTC	p.A58V		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	58					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)	1	all_lung(278;0.226)											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.197183	28.534779	34.58085	14	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70520549	70520549	7788	17	C	T	T	26	26	ICT1	T	2	2
ATP5H	10476	broad.mit.edu	36	17	70549933	70549933	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70549933C>T	uc002jmn.1	-	c.157G>A	c.(157-159)GAC>AAC	p.D53N	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.1_Intron|ATP5H_uc002jmo.1_Missense_Mutation_p.D53N	NM_006356	NP_006347	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	53					ATP catabolic process|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity				0	all_lung(278;0.226)													0.155556	33.499259	48.790418	21	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70549933	70549933	1175	17	C	T	T	31	31	ATP5H	T	1	1
SLC16A5	9121	broad.mit.edu	36	17	70605756	70605756	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70605756C>T	uc002jmr.1	+	c.228C>T	c.(226-228)CGC>CGT	p.R76R	SLC16A5_uc002jms.1_Silent_p.R76R|SLC16A5_uc002jmt.1_Silent_p.R76R|SLC16A5_uc002jmu.1_Silent_p.R76R	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	76	Cytoplasmic (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)				Pyruvic acid(DB00119)									0.5	308.912199	308.912199	111	111	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Silent	SNP	70605756	70605756	14907	17	C	T	T	28	28	SLC16A5	T	2	2
SLC16A5	9121	broad.mit.edu	36	17	70608040	70608040	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70608040C>T	uc002jmr.1	+	c.687C>T	c.(685-687)TTC>TTT	p.F229F	SLC16A5_uc002jms.1_Silent_p.F229F|SLC16A5_uc002jmt.1_Silent_p.F229F|SLC16A5_uc002jmu.1_Silent_p.F229F	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	229	Cytoplasmic (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)				Pyruvic acid(DB00119)									0.367442	206.654324	209.980789	79	136	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Silent	SNP	70608040	70608040	14907	17	C	T	T	31	31	SLC16A5	T	1	1
HN1	51155	broad.mit.edu	36	17	70643768	70643768	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70643768C>T	uc002jnb.1	-	c.470G>A	c.(469-471)CGT>CAT	p.R157H	HN1_uc010dgb.1_Non-coding_Transcript|HN1_uc002jmz.1_3'UTR|HN1_uc002jna.1_3'UTR|HN1_uc010dgc.1_Non-coding_Transcript|HN1_uc002jnc.1_Non-coding_Transcript|HN1_uc002jnd.1_3'UTR	NM_001002032	NP_001002032	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	Error:Variant_position_missing_in_Q9UK76_after_alignment						nucleus					0	all_lung(278;0.14)|Lung NSC(278;0.168)													0.486111	288.648184	288.684677	105	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70643768	70643768	7541	17	C	T	T	19	19	HN1	T	1	1
DVL2	1856	broad.mit.edu	36	17	7071262	7071262	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7071262G>A	uc002gez.1	-	c.1414C>T	c.(1414-1416)CGG>TGG	p.R472W		NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	472	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	nucleus	frizzled binding|identical protein binding|signal transducer activity			kidney(1)	1														0.207237	115.325161	139.438462	63	241	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7071262	7071262	5022	17	G	A	A	38	38	DVL2	A	1	1
NUP85	79902	broad.mit.edu	36	17	70719689	70719689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70719689C>T	uc002jng.1	+	c.298C>T	c.(298-300)CGA>TGA	p.R100*	NUP85_uc010dgd.1_Nonsense_Mutation_p.R100*	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	100					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)													0.490566	74.444153	74.448343	26	27	CC		KEEP	---	---	---	---	capture	all cancers(21;3.45e-06)		Nonsense_Mutation	SNP	70719689	70719689	11175	17	C	T	T	31	31	NUP85	T	5	1
GGA3	23163	broad.mit.edu	36	17	70747061	70747061	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70747061C>T	uc002jni.1	-	c.1770G>A	c.(1768-1770)TCG>TCA	p.S590S	GGA3_uc002jnj.1_Silent_p.S557S|GGA3_uc002jnk.1_Silent_p.S518S	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	590	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2												OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.197531	32.054009	38.956085	16	65	CC		KEEP	---	---	---	---	capture	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		Silent	SNP	70747061	70747061	6622	17	C	T	T	31	31	GGA3	T	1	1
GGA3	23163	broad.mit.edu	36	17	70748690	70748690	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70748690C>T	uc002jni.1	-	c.990G>A	c.(988-990)GCG>GCA	p.A330A	GGA3_uc002jnj.1_Silent_p.A297A|GGA3_uc002jnk.1_Silent_p.A258A	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	330	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2												OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.222222	91.231321	103.990862	40	140	CC		KEEP	---	---	---	---	capture	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		Silent	SNP	70748690	70748690	6622	17	C	T	T	23	23	GGA3	T	1	1
PHF23	79142	broad.mit.edu	36	17	7080425	7080425	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7080425T>C	uc002gfa.1	-	c.545A>G	c.(544-546)GAC>GGC	p.D182G	DVL2_uc002gez.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010cma.1_Missense_Mutation_p.D52G	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	182							zinc ion binding				0														0.401826	284.561453	286.405119	88	131	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7080425	7080425	12258	17	T	C	C	58	58	PHF23	C	4	4
KIAA0195	9772	broad.mit.edu	36	17	70997942	70997942	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70997942C>A	uc002jnz.2	+	c.987C>A	c.(985-987)CTC>CTA	p.L329L	KIAA0195_uc002joa.2_5'UTR	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	329	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)													0.214521	121.084841	143.918758	65	238	CC		KEEP	---	---	---	---	capture	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		Silent	SNP	70997942	70997942	8467	17	C	A	A	32	32	KIAA0195	A	3	3
KIAA0195	9772	broad.mit.edu	36	17	71000180	71000180	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71000180G>A	uc002jnz.2	+	c.1627G>A	c.(1627-1629)GAA>AAA	p.E543K	KIAA0195_uc002joa.2_Missense_Mutation_p.E183K	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	543					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)													0.408451	158.407788	159.450853	58	84	GG		KEEP	---	---	---	---	capture	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71000180	71000180	8467	17	G	A	A	37	37	KIAA0195	A	1	1
CASKIN2	57513	broad.mit.edu	36	17	71011967	71011967	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71011967C>T	uc002joc.1	-	c.1391G>A	c.(1390-1392)CGC>CAC	p.R464H		NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	464						cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)													0.45	24.071141	24.114723	9	11	CC		KEEP	---	---	---	---	capture	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71011967	71011967	2786	17	C	T	T	27	27	CASKIN2	T	1	1
CLDN7	1366	broad.mit.edu	36	17	7104697	7104697	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7104697G>T	uc002gfm.2	-	c.461C>A	c.(460-462)CCT>CAT	p.P154H	CLDN7_uc010cmc.1_Intron|CLDN7_uc002gfn.2_Missense_Mutation_p.P154H	NM_001307	NP_001298	O95471	CLD7_HUMAN	claudin 7	154	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1														0.40625	103.796276	104.536251	39	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7104697	7104697	3627	17	G	T	T	35	35	CLDN7	T	3	3
LLGL2	3993	broad.mit.edu	36	17	71076271	71076271	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71076271G>A	uc002joh.1	+	c.1156G>A	c.(1156-1158)GCC>ACC	p.A386T	LLGL2_uc002joi.1_Missense_Mutation_p.A386T|LLGL2_uc010dgg.1_Missense_Mutation_p.A386T|LLGL2_uc002joj.1_Missense_Mutation_p.A375T	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	386					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)													0.219048	45.269197	52.909448	23	82	GG		KEEP	---	---	---	---	capture	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		Missense_Mutation	SNP	71076271	71076271	9163	17	G	A	A	38	38	LLGL2	A	1	1
RECQL5	9400	broad.mit.edu	36	17	71136083	71136083	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71136083C>T	uc010dgl.1	-	c.2615G>A	c.(2614-2616)CGC>CAC	p.R872H	RECQL5_uc010dgk.1_Missense_Mutation_p.R845H|RECQL5_uc002jot.2_Missense_Mutation_p.R68H	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	872					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)													0.118012	16.857936	39.911232	19	142	CC		KEEP	---	---	---	---	capture	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		Missense_Mutation	SNP	71136083	71136083	13672	17	C	T	T	27	27	RECQL5	T	1	1
SAP30BP	29115	broad.mit.edu	36	17	71212477	71212477	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71212477G>T	uc002jpe.1	+	c.648G>T	c.(646-648)AAG>AAT	p.K216N	SAP30BP_uc002jpc.1_Non-coding_Transcript|SAP30BP_uc002jpf.1_Missense_Mutation_p.K200N|SAP30BP_uc010dgn.1_Non-coding_Transcript	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein	216					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)													0.211765	74.797282	87.86466	36	134	GG		KEEP	---	---	---	---	capture	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71212477	71212477	14315	17	G	T	T	35	35	SAP30BP	T	3	3
ITGB4	3691	broad.mit.edu	36	17	71248054	71248054	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71248054C>T	uc002jpg.1	+	c.2467C>T	c.(2467-2469)CGC>TGC	p.R823C	ITGB4_uc002jph.1_Missense_Mutation_p.R823C|ITGB4_uc010dgo.1_Missense_Mutation_p.R823C|ITGB4_uc002jpi.2_Missense_Mutation_p.R823C|ITGB4_uc010dgp.1_Missense_Mutation_p.R823C|ITGB4_uc002jpj.1_Missense_Mutation_p.R823C	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	823	Cytoplasmic (Potential).				cell communication|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development	integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)									754				0.478261	90.176066	90.203704	33	36	CC		KEEP	---	---	---	---	capture	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71248054	71248054	8201	17	C	T	T	27	27	ITGB4	T	1	1
ITGB4	3691	broad.mit.edu	36	17	71260196	71260196	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71260196G>A	uc002jpg.1	+	c.4051G>A	c.(4051-4053)GAT>AAT	p.D1351N	ITGB4_uc002jph.1_Missense_Mutation_p.D1351N|ITGB4_uc002jpi.2_Missense_Mutation_p.D1351N|ITGB4_uc002jpj.1_Missense_Mutation_p.D1351N	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1351	Cytoplasmic (Potential).				cell communication|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development	integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)									754				0.206081	120.409162	144.125557	61	235	GG		KEEP	---	---	---	---	capture	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71260196	71260196	8201	17	G	A	A	37	37	ITGB4	A	1	1
ITGB4	3691	broad.mit.edu	36	17	71264193	71264193	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71264193C>T	uc002jpg.1	+	c.4797C>T	c.(4795-4797)CGC>CGT	p.R1599R	ITGB4_uc002jph.1_Silent_p.R1529R|ITGB4_uc002jpi.2_Silent_p.R1529R|ITGB4_uc002jpj.1_Silent_p.R1582R	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1599	Cytoplasmic (Potential).|Fibronectin type-III 3.				cell communication|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development	integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)									754				0.192727	96.669242	121.003146	53	222	CC		KEEP	---	---	---	---	capture	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		Silent	SNP	71264193	71264193	8201	17	C	T	T	27	27	ITGB4	T	1	1
ITGB4	3691	broad.mit.edu	36	17	71264420	71264420	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71264420G>A	uc002jpg.1	+	c.4938G>A	c.(4936-4938)CCG>CCA	p.P1646P	ITGB4_uc002jph.1_Silent_p.P1576P|ITGB4_uc002jpi.2_Silent_p.P1576P|ITGB4_uc002jpj.1_Silent_p.P1629P	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1646	Fibronectin type-III 4.|Cytoplasmic (Potential).				cell communication|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development	integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)									754				0.455696	196.681447	196.950682	72	86	GG		KEEP	---	---	---	---	capture	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		Silent	SNP	71264420	71264420	8201	17	G	A	A	38	38	ITGB4	A	1	1
SLC2A4	6517	broad.mit.edu	36	17	7127849	7127849	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7127849C>A	uc002gfp.1	+	c.392C>A	c.(391-393)GCT>GAT	p.A131D	SLC2A4_uc002gfo.1_Missense_Mutation_p.A131D|SLC2A4_uc010cmd.1_Non-coding_Transcript	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	131	Helical; Name=3; (Potential).				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0														0.415254	132.144835	132.886573	49	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7127849	7127849	15043	17	C	A	A	28	28	SLC2A4	A	3	3
UNK	85451	broad.mit.edu	36	17	71292540	71292540	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71292540G>T	uc002jpm.1	+	c.212G>T	c.(211-213)AGG>ATG	p.R71M	UNK_uc002jpn.2_Non-coding_Transcript|UNK_uc002jpo.2_Non-coding_Transcript	NM_001080419	NP_001073888			zinc finger CCCH-type domain containing 5												0														0.48	33.195803	33.204616	12	13	GG		KEEP	---	---	---	---	capture	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71292540	71292540	17559	17	G	T	T	35	35	UNK	T	3	3
SLC2A4	6517	broad.mit.edu	36	17	7129751	7129751	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7129751C>T	uc002gfp.1	+	c.1126C>T	c.(1126-1128)CGA>TGA	p.R376*	SLC2A4_uc002gfo.1_Nonsense_Mutation_p.R376*|SLC2A4_uc010cmd.1_Non-coding_Transcript	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	376	Extracellular (Potential).				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0														0.127451	11.10434	24.91801	13	89	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	7129751	7129751	15043	17	C	T	T	27	27	SLC2A4	T	5	1
SLC2A4	6517	broad.mit.edu	36	17	7130518	7130518	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7130518G>A	uc002gfp.1	+	c.1376G>A	c.(1375-1377)GGC>GAC	p.G459D	SLC2A4_uc010cmd.1_Non-coding_Transcript	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	459	Helical; Name=12; (Potential).				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0														0.217443	380.650752	442.242038	182	655	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7130518	7130518	15043	17	G	A	A	42	42	SLC2A4	A	2	2
UNK	85451	broad.mit.edu	36	17	71327404	71327404	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71327404G>A	uc002jpm.1	+	c.1819G>A	c.(1819-1821)GCC>ACC	p.A607T		NM_001080419	NP_001073888			zinc finger CCCH-type domain containing 5												0														0.235294	75.635995	85.434996	36	117	GG		KEEP	---	---	---	---	capture	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71327404	71327404	17559	17	G	A	A	38	38	UNK	A	1	1
UNC13D	201294	broad.mit.edu	36	17	71336558	71336558	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71336558A>G	uc002jpp.1	-	c.3056T>C	c.(3055-3057)TTC>TCC	p.F1019S		NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	1019	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding				0														0.266667	7.393828	8.133752	4	11	AA		KEEP	---	---	---	---	capture	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71336558	71336558	17545	17	A	G	G	9	9	UNC13D	G	4	4
YBX2	51087	broad.mit.edu	36	17	7134088	7134088	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7134088C>A	uc002gfq.2	-	c.771G>T	c.(769-771)GAG>GAT	p.E257D		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	257	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding				0														0.246377	72.273451	80.363567	34	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7134088	7134088	18053	17	C	A	A	32	32	YBX2	A	3	3
TRIM65	201292	broad.mit.edu	36	17	71398720	71398720	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71398720T>C	uc002jpx.1	-	c.1289A>G	c.(1288-1290)GAC>GGC	p.D430G		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	430	B30.2/SPRY.					intracellular	zinc ion binding				0														0.305556	20.160662	21.4083	11	25	TT		KEEP	---	---	---	---	capture	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71398720	71398720	17087	17	T	C	C	58	58	TRIM65	C	4	4
FBF1	85302	broad.mit.edu	36	17	71433094	71433094	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71433094G>A	uc002jqc.2	-	c.855C>T	c.(853-855)GAC>GAT	p.D285D	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc002jqd.1_Silent_p.D285D	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	285											0														0.18	13.941005	18.762669	9	41	GG		KEEP	---	---	---	---	capture			Silent	SNP	71433094	71433094	5931	17	G	A	A	36	36	FBF1	A	2	2
CDK3	1018	broad.mit.edu	36	17	71509802	71509802	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71509802C>A	uc002jqg.2	+	c.299C>A	c.(298-300)CCC>CAC	p.P100H	CDK3_uc010dgt.1_Missense_Mutation_p.P100H	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	100	Protein kinase.				cell division|cell proliferation|mitosis|protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1										155				0.225131	88.516132	101.784642	43	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71509802	71509802	3269	17	C	A	A	22	22	CDK3	A	3	3
CDK3	1018	broad.mit.edu	36	17	71510931	71510931	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71510931C>T	uc002jqg.2	+	c.649C>T	c.(649-651)CGT>TGT	p.R217C	CDK3_uc010dgt.1_Missense_Mutation_p.R217C	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	217	Protein kinase.				cell division|cell proliferation|mitosis|protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1										155				0.228935	312.206711	354.5847	144	485	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71510931	71510931	3269	17	C	T	T	31	31	CDK3	T	1	1
EIF5A	1984	broad.mit.edu	36	17	7151120	7151120	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7151120A>G	uc002gfr.1	+	c.31A>G	c.(31-33)ACA>GCA	p.T11A	EIF5A_uc002gfs.1_5'Flank|EIF5A_uc002gft.1_5'Flank|EIF5A_uc002gfu.1_5'Flank	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	Error:Variant_position_missing_in_P63241_after_alignment					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0										31				0.333333	29.268965	29.9317	9	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7151120	7151120	5232	17	A	G	G	10	10	EIF5A	G	4	4
EVPL	2125	broad.mit.edu	36	17	71515418	71515418	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71515418A>G	uc002jqi.2	-	c.5463T>C	c.(5461-5463)GGT>GGC	p.G1821G		NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1821	Globular 2.|Plectin 3.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.136364	82.234174	132.908007	54	342	AA		KEEP	---	---	---	---	capture			Silent	SNP	71515418	71515418	5485	17	A	G	G	6	6	EVPL	G	4	4
EVPL	2125	broad.mit.edu	36	17	71516274	71516274	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71516274C>T	uc002jqi.2	-	c.4607G>A	c.(4606-4608)CGG>CAG	p.R1536Q		NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1536	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.323529	89.136662	91.958129	33	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71516274	71516274	5485	17	C	T	T	23	23	EVPL	T	1	1
EVPL	2125	broad.mit.edu	36	17	71526135	71526135	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71526135C>T	uc002jqi.2	-	c.1426G>A	c.(1426-1428)GCC>ACC	p.A476T		NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	476	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.322581	23.435487	24.303946	10	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71526135	71526135	5485	17	C	T	T	26	26	EVPL	T	2	2
GPS2	2874	broad.mit.edu	36	17	7158346	7158346	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7158346C>T	uc002gfv.1	-	c.305G>A	c.(304-306)CGA>CAA	p.R102Q	GPS2_uc010cme.1_5'UTR|GPS2_uc002gfw.1_Missense_Mutation_p.R64Q|GPS2_uc002gfx.1_Missense_Mutation_p.R102Q|NEURL4_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_Missense_Mutation_p.R102Q	NM_004489	NP_004480	Q13227	GPS2_HUMAN	G protein pathway suppressor 2	102					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of JNK cascade	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			ovary(2)|pancreas(1)	3		Prostate(122;0.157)												0.457055	420.314628	420.840429	149	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7158346	7158346	7009	17	C	T	T	31	31	GPS2	T	1	1
GALR2	8811	broad.mit.edu	36	17	71584678	71584678	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71584678C>A	uc002jqm.1	+	c.735C>A	c.(733-735)TTC>TTA	p.F245L	ZACN_uc002jqn.1_5'Flank|ZACN_uc002jqo.1_5'Flank|ZACN_uc010dgu.1_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	245	Helical; Name=6; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0														0.455556	108.352722	108.508768	41	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71584678	71584678	6492	17	C	A	A	32	32	GALR2	A	3	3
ZACN	353174	broad.mit.edu	36	17	71589581	71589581	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71589581C>A	uc002jqn.1	+	c.901C>A	c.(901-903)CTG>ATG	p.L301M	ZACN_uc002jqo.1_Non-coding_Transcript|ZACN_uc010dgu.1_Non-coding_Transcript|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqq.1_3'UTR|EXOC7_uc002jqr.1_3'UTR|EXOC7_uc002jqs.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	302	Helical; Name=3; (Potential).|Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity|zinc ion binding				0														0.436508	153.897618	154.341862	55	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71589581	71589581	18093	17	C	A	A	28	28	ZACN	A	3	3
EXOC7	23265	broad.mit.edu	36	17	71591734	71591734	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71591734G>A	uc002jqs.1	-	c.2053C>T	c.(2053-2055)CGC>TGC	p.R685C	EXOC7_uc002jqp.1_Silent_p.F146F|EXOC7_uc010dgv.1_Missense_Mutation_p.R559C|EXOC7_uc002jqq.1_Missense_Mutation_p.R634C|EXOC7_uc002jqr.1_Missense_Mutation_p.R603C	NM_015219	NP_001013861	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 2	685					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0														0.447761	85.046234	85.204384	30	37	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(166;0.187)		Missense_Mutation	SNP	71591734	71591734	5503	17	G	A	A	37	37	EXOC7	A	1	1
RNF157	114804	broad.mit.edu	36	17	71660082	71660082	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71660082C>T	uc002jqz.1	-	c.1870G>A	c.(1870-1872)GCA>ACA	p.A624T	RNF157_uc002jra.1_Missense_Mutation_p.A602T	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	624							zinc ion binding			ovary(1)	1						GBM(186;507 2120 27388 27773 52994)								0.380531	229.583734	232.416984	86	140	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(166;0.187)		Missense_Mutation	SNP	71660082	71660082	13931	17	C	T	T	27	27	RNF157	T	1	1
NEURL4	84461	broad.mit.edu	36	17	7168196	7168196	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7168196C>T	uc002gga.1	-	c.2017G>A	c.(2017-2019)GAT>AAT	p.D673N	NEURL4_uc002ggb.1_Missense_Mutation_p.D673N|NEURL4_uc002ggc.1_Missense_Mutation_p.D19N	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	673	NHR 3.						protein binding			ovary(1)	1												OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.24812	143.927576	159.280508	66	200	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7168196	7168196	10747	17	C	T	T	31	31	NEURL4	T	1	1
QRICH2	84074	broad.mit.edu	36	17	71798758	71798758	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71798758C>A	uc002jrd.1	-	c.3147G>T	c.(3145-3147)AAG>AAT	p.K1049N	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1049							protein binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4														0.146179	57.876468	94.136685	44	257	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71798758	71798758	13338	17	C	A	A	24	24	QRICH2	A	3	3
ACAP1	9744	broad.mit.edu	36	17	7186322	7186322	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7186322G>A	uc002ggd.1	+	c.236G>A	c.(235-237)TGT>TAT	p.C79Y		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	79	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3														0.165644	41.411748	58.716697	27	136	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7186322	7186322	119	17	G	A	A	48	48	ACAP1	A	2	2
SPHK1	8877	broad.mit.edu	36	17	71894154	71894154	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71894154C>T	uc002jrj.1	+	c.602C>T	c.(601-603)GCG>GTG	p.A201V	SPHK1_uc002jrf.1_Missense_Mutation_p.A115V|SPHK1_uc002jrg.1_Missense_Mutation_p.A64V|SPHK1_uc002jrh.1_Missense_Mutation_p.A129V|SPHK1_uc002jri.1_Missense_Mutation_p.A115V|SPHK1_uc002jrk.2_Missense_Mutation_p.A115V	NM_182965	NP_892010	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 2	115	DAGKc.			NA -> KP (in Ref. 4; CAB92131).	'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GBM(90;966 1307 27369 33775 44498)						OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.418367	111.56053	112.129302	41	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71894154	71894154	15558	17	C	T	T	27	27	SPHK1	T	1	1
KCTD11	147040	broad.mit.edu	36	17	7197253	7197253	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7197253C>A	uc002gge.2	+	c.268C>A	c.(268-270)CTC>ATC	p.L90I	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	90					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)												0.407407	122.466208	123.278238	44	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7197253	7197253	8404	17	C	A	A	28	28	KCTD11	A	3	3
AANAT	15	broad.mit.edu	36	17	71976454	71976454	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71976454C>T	uc002jro.1	+	c.31C>T	c.(31-33)CCT>TCT	p.P11S		NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	11					circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0														0.212766	20.229285	23.810054	10	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71976454	71976454	19	17	C	T	T	18	18	AANAT	T	2	2
RHBDF2	79651	broad.mit.edu	36	17	71982182	71982182	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71982182G>T	uc002jrq.1	-	c.1419C>A	c.(1417-1419)TTC>TTA	p.F473L	RHBDF2_uc002jrp.1_Missense_Mutation_p.F444L|RHBDF2_uc002jrr.1_Missense_Mutation_p.F325L	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	473	Lumenal (Potential).				negative regulation of protein secretion	endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity				0														0.196532	60.53687	75.399822	34	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71982182	71982182	13795	17	G	T	T	33	33	RHBDF2	T	3	3
CYGB	114757	broad.mit.edu	36	17	72038685	72038685	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72038685G>A	uc002jru.1	-	c.510C>T	c.(508-510)GGC>GGT	p.G170G	CYGB_uc002jrv.1_Silent_p.G105G|PRCD_uc002jrw.1_Intron	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	cytoglobin	170					response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity				0														0.275862	41.573163	44.197776	16	42	GG		KEEP	---	---	---	---	capture			Silent	SNP	72038685	72038685	4304	17	G	A	A	34	34	CYGB	A	2	2
ST6GALNAC1	55808	broad.mit.edu	36	17	72133078	72133078	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72133078G>A	uc002jsh.1	-	c.1732C>T	c.(1732-1734)CGG>TGG	p.R578W	ST6GALNAC1_uc002jsi.1_Missense_Mutation_p.R446W|ST6GALNAC1_uc002jsj.1_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	GalNAc alpha-2, 6-sialyltransferase I	578	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0														0.206186	38.148944	45.913338	20	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72133078	72133078	15741	17	G	A	A	38	38	ST6GALNAC1	A	1	1
MXRA7	439921	broad.mit.edu	36	17	72192835	72192835	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72192835G>A	uc002jsk.1	-	c.414C>T	c.(412-414)GGC>GGT	p.G138G	MXRA7_uc002jsl.1_Silent_p.G138G|MXRA7_uc002jsm.1_Silent_p.G138G	NM_001008528	NP_001008528	P84157	MXRA7_HUMAN	transmembrane anchor protein 1 isoform 1	138						integral to membrane					0														0.168919	71.86695	102.617517	50	246	GG		KEEP	---	---	---	---	capture			Silent	SNP	72192835	72192835	10398	17	G	A	A	34	34	MXRA7	A	2	2
MFSD11	79157	broad.mit.edu	36	17	72284126	72284126	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72284126G>T	uc002jta.1	+	c.1093G>T	c.(1093-1095)GAC>TAC	p.D365Y	MFSD11_uc002jtb.1_Missense_Mutation_p.D365Y|MFSD11_uc010dha.1_Missense_Mutation_p.D313Y|MFSD11_uc002jtc.1_Missense_Mutation_p.D365Y|MFSD11_uc002jtd.2_Missense_Mutation_p.D365Y|MFSD11_uc010dhb.1_Missense_Mutation_p.D313Y|MFSD11_uc002jte.1_Missense_Mutation_p.D365Y	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	365	Helical; (Potential).					integral to membrane				ovary(1)	1														0.508621	493.023477	493.044941	177	171	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72284126	72284126	9919	17	G	T	T	33	33	MFSD11	T	3	3
MFSD11	79157	broad.mit.edu	36	17	72285896	72285896	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72285896G>A	uc002jta.1	+	c.1217G>A	c.(1216-1218)AGC>AAC	p.S406N	MFSD11_uc002jtb.1_Missense_Mutation_p.S406N|MFSD11_uc010dha.1_Missense_Mutation_p.S354N|MFSD11_uc002jtc.1_Missense_Mutation_p.S406N|MFSD11_uc002jtd.2_Missense_Mutation_p.S406N|MFSD11_uc010dhb.1_Missense_Mutation_p.S354N|MFSD11_uc002jte.1_Missense_Mutation_p.S406N	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	406						integral to membrane				ovary(1)	1														0.454545	256.854667	257.190805	85	102	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72285896	72285896	9919	17	G	A	A	34	34	MFSD11	A	2	2
MGAT5B	146664	broad.mit.edu	36	17	72445809	72445809	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72445809C>T	uc002jti.1	+	c.1600C>T	c.(1600-1602)CGC>TGC	p.R534C	MGAT5B_uc002jth.1_Missense_Mutation_p.R523C	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	beta(1,6)-N-acetylglucosaminyltransferase V	525	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)	2														0.373016	118.767538	120.521836	47	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72445809	72445809	9939	17	C	T	T	27	27	MGAT5B	T	1	1
MGAT5B	146664	broad.mit.edu	36	17	72448430	72448430	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72448430G>A	uc002jti.1	+	c.1780G>A	c.(1780-1782)GCG>ACG	p.A594T	MGAT5B_uc002jth.1_Missense_Mutation_p.A583T	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	beta(1,6)-N-acetylglucosaminyltransferase V	585	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)	2														0.471698	335.524954	335.710941	125	140	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72448430	72448430	9939	17	G	A	A	38	38	MGAT5B	A	1	1
NLGN2	57555	broad.mit.edu	36	17	7258466	7258466	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7258466C>T	uc002ggt.1	+	c.588C>T	c.(586-588)TTC>TTT	p.F196F		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	196	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|regulation of synaptic transmission|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	carboxylesterase activity|neurexin binding			central_nervous_system(1)	1		Prostate(122;0.157)												0.218978	60.216228	70.159717	30	107	CC		KEEP	---	---	---	---	capture			Silent	SNP	7258466	7258466	10865	17	C	T	T	31	31	NLGN2	T	1	1
NLGN2	57555	broad.mit.edu	36	17	7259707	7259707	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7259707C>T	uc002ggt.1	+	c.1191C>T	c.(1189-1191)AGC>AGT	p.S397S		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	397	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|regulation of synaptic transmission|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	carboxylesterase activity|neurexin binding			central_nervous_system(1)	1		Prostate(122;0.157)												0.182456	87.023668	114.034181	52	233	CC		KEEP	---	---	---	---	capture			Silent	SNP	7259707	7259707	10865	17	C	T	T	27	27	NLGN2	T	1	1
SEC14L1	6397	broad.mit.edu	36	17	72713974	72713974	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72713974C>T	uc010dhc.1	+	c.1238C>T	c.(1237-1239)GCG>GTG	p.A413V	SEC14L1_uc002jtm.1_Missense_Mutation_p.A413V|SEC14L1_uc002jtn.1_Non-coding_Transcript|SEC14L1_uc002jto.1_Missense_Mutation_p.A413V|SEC14L1_uc002jtp.1_Missense_Mutation_p.A413V|SEC14L1_uc002jtr.1_5'Flank	NM_001039573	NP_001034662	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform b	413	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2														0.487395	158.4595	158.4749	58	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72713974	72713974	14467	17	C	T	T	27	27	SEC14L1	T	1	1
TMEM102	284114	broad.mit.edu	36	17	7281366	7281366	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7281366G>A	uc002ggx.1	+	c.1344G>A	c.(1342-1344)GGG>GGA	p.G448G	TMEM102_uc002ggy.1_Silent_p.G448G|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.1_5'Flank|FGF11_uc002ggz.1_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	448					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)												0.212121	15.469187	17.95277	7	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	7281366	7281366	16547	17	G	A	A	41	41	TMEM102	A	2	2
CHRNB1	1140	broad.mit.edu	36	17	7290937	7290937	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7290937G>A	uc002ghb.1	+	c.305G>A	c.(304-306)CGC>CAC	p.R102H		NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	102	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)												0.50495	139.02086	139.023089	51	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7290937	7290937	3524	17	G	A	A	38	38	CHRNB1	A	1	1
ZBTB4	57659	broad.mit.edu	36	17	7306198	7306198	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7306198C>T	uc002ghc.2	-	c.2827G>A	c.(2827-2829)GCT>ACT	p.A943T	ZBTB4_uc002ghd.2_Missense_Mutation_p.A943T	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	943					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)												0.471767	708.090753	708.46738	259	290	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	Missense_Mutation	SNP	7306198	7306198	18127	17	C	T	T	27	27	ZBTB4	T	1	1
POLR2A	5430	broad.mit.edu	36	17	7341756	7341756	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7341756C>T	uc002ghf.2	+	c.1045C>T	c.(1045-1047)CGG>TGG	p.R349W	POLR2A_uc002ghe.2_Missense_Mutation_p.R349W	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA directed RNA polymerase II polypeptide A	349					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)												0.364341	131.095763	133.180966	47	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7341756	7341756	12642	17	C	T	T	23	23	POLR2A	T	1	1
TNRC6C	57690	broad.mit.edu	36	17	73556970	73556970	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73556970A>C	uc002jud.1	+	c.232A>C	c.(232-234)ATT>CTT	p.I78L	TNRC6C_uc002jue.1_5'Flank|TNRC6C_uc002juf.1_5'Flank	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	78	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2														0.450237	333.324772	333.776045	95	116	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		Missense_Mutation	SNP	73556970	73556970	16883	17	A	C	C	12	12	TNRC6C	C	4	4
TNRC6C	57690	broad.mit.edu	36	17	73557049	73557049	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73557049C>T	uc002jud.1	+	c.311C>T	c.(310-312)GCC>GTC	p.A104V	TNRC6C_uc002jue.1_5'Flank|TNRC6C_uc002juf.1_5'Flank	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	104	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2														0.311111	71.169557	74.028071	28	62	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		Missense_Mutation	SNP	73557049	73557049	16883	17	C	T	T	26	26	TNRC6C	T	2	2
TNRC6C	57690	broad.mit.edu	36	17	73557997	73557997	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73557997G>A	uc002jud.1	+	c.1259G>A	c.(1258-1260)CGA>CAA	p.R420Q	TNRC6C_uc002jue.1_5'Flank|TNRC6C_uc002juf.1_5'Flank	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	420	Sufficient for interaction with argonaute family proteins.|Gly-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2														0.445344	310.40679	311.050801	110	137	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		Missense_Mutation	SNP	73557997	73557997	16883	17	G	A	A	37	37	TNRC6C	A	1	1
TNRC6C	57690	broad.mit.edu	36	17	73558068	73558068	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73558068C>A	uc002jud.1	+	c.1330C>A	c.(1330-1332)CTG>ATG	p.L444M	TNRC6C_uc002jue.1_5'Flank|TNRC6C_uc002juf.1_5'Flank	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	444	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2														0.46281	303.047603	303.34159	112	130	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		Missense_Mutation	SNP	73558068	73558068	16883	17	C	A	A	32	32	TNRC6C	A	3	3
TNRC6C	57690	broad.mit.edu	36	17	73558755	73558755	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73558755G>T	uc002jud.1	+	c.2017G>T	c.(2017-2019)GAC>TAC	p.D673Y	TNRC6C_uc002jue.1_5'UTR|TNRC6C_uc002juf.1_5'UTR	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	673	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2														0.189189	10.691342	14.053595	7	30	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		Missense_Mutation	SNP	73558755	73558755	16883	17	G	T	T	33	33	TNRC6C	T	3	3
TNRC6C	57690	broad.mit.edu	36	17	73606116	73606116	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73606116T>C	uc002jud.1	+	c.4404T>C	c.(4402-4404)AGT>AGC	p.S1468S	TNRC6C_uc002juf.1_Silent_p.S783S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1468	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2														0.375758	173.654096	175.907074	62	103	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		Silent	SNP	73606116	73606116	16883	17	T	C	C	57	57	TNRC6C	C	4	4
TMC6	11322	broad.mit.edu	36	17	73634481	73634481	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73634481C>T	uc002juj.1	-	c.28G>A	c.(28-30)GAT>AAT	p.D10N	TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Missense_Mutation_p.D10N|TMC6_uc010dhg.1_Missense_Mutation_p.D10N|TMC6_uc002jul.1_Missense_Mutation_p.D10N|TMC6_uc002jum.2_5'Flank|TMC6_uc002jun.2_Missense_Mutation_p.D10N|TMC6_uc002juo.2_Intron	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	10	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0														0.166667	19.010995	25.943405	11	55	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		Missense_Mutation	SNP	73634481	73634481	16519	17	C	T	T	31	31	TMC6	T	1	1
AFMID	125061	broad.mit.edu	36	17	73713157	73713157	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73713157G>A	uc002juz.2	+	c.607G>A	c.(607-609)GTG>ATG	p.V203M	AFMID_uc002jva.2_Missense_Mutation_p.V203M|AFMID_uc002jvb.2_Intron	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase	203						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2														0.220903	191.536845	221.743098	93	328	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		Missense_Mutation	SNP	73713157	73713157	363	17	G	A	A	40	40	AFMID	A	1	1
AFMID	125061	broad.mit.edu	36	17	73713667	73713667	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73713667G>A	uc002juz.2	+	c.841G>A	c.(841-843)GAT>AAT	p.D281N	AFMID_uc002jva.2_Missense_Mutation_p.D276N|AFMID_uc002jvb.2_Silent_p.T83T	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase	276						cytosol|nucleus	arylformamidase activity	p.D281V(1)		large_intestine(1)|pancreas(1)	2														0.246154	36.066765	39.881779	16	49	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		Missense_Mutation	SNP	73713667	73713667	363	17	G	A	A	37	37	AFMID	A	1	1
PGS1	9489	broad.mit.edu	36	17	73904043	73904043	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73904043T>C	uc002jvm.1	+	c.393T>C	c.(391-393)GGT>GGC	p.G131G	PGS1_uc010dho.1_5'Flank|PGS1_uc002jvn.1_5'Flank|PGS1_uc002jvo.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	131	ATP (Potential).				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0						Esophageal Squamous(45;182 1126 10685 43198)								0.348837	87.590363	89.339082	30	56	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		Silent	SNP	73904043	73904043	12231	17	T	C	C	58	58	PGS1	C	4	4
SENP3	26168	broad.mit.edu	36	17	7409030	7409030	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7409030G>A	uc002ghm.1	+	c.986G>A	c.(985-987)GGC>GAC	p.G329D	SENP3_uc002ghn.1_Missense_Mutation_p.G144D|EIF4A1_uc002gho.1_5'UTR	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	329					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)												0.152941	18.010992	27.820952	13	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7409030	7409030	14534	17	G	A	A	42	42	SENP3	A	2	2
SENP3	26168	broad.mit.edu	36	17	7409083	7409083	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7409083T>C	uc002ghm.1	+	c.1039T>C	c.(1039-1041)TTC>CTC	p.F347L	SENP3_uc002ghn.1_Missense_Mutation_p.F162L|EIF4A1_uc002gho.1_5'UTR	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	347					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)												0.227848	52.21257	57.577884	18	61	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7409083	7409083	14534	17	T	C	C	64	64	SENP3	C	4	4
SENP3	26168	broad.mit.edu	36	17	7414509	7414509	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7414509C>T	uc002ghm.1	+	c.1453C>T	c.(1453-1455)CGT>TGT	p.R485C	EIF4A1_uc002gho.1_5'UTR|EIF4A1_uc002ghr.1_5'Flank|EIF4A1_uc002ghq.1_5'Flank|EIF4A1_uc002ghp.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	485	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)												0.5	46.972108	46.972108	17	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7414509	7414509	14534	17	C	T	T	27	27	SENP3	T	1	1
CYTH1	9267	broad.mit.edu	36	17	74206614	74206614	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:74206614G>T	uc010dhq.1	-	c.582C>A	c.(580-582)ATC>ATA	p.I194I	CYTH1_uc002jvw.1_Silent_p.I194I	NM_004762	NP_004753	Q15438	CYH1_HUMAN	cytohesin 1 isoform 1	194	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1														0.201818	211.669524	257.158703	111	439	GG		KEEP	---	---	---	---	capture			Silent	SNP	74206614	74206614	4368	17	G	T	T	45	45	CYTH1	T	3	3
EIF4A1	1973	broad.mit.edu	36	17	7421501	7421501	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7421501G>A	uc002gho.1	+	c.740G>A	c.(739-741)CGC>CAC	p.R247H	EIF4A1_uc002ghr.1_Missense_Mutation_p.R247H|EIF4A1_uc002ghq.1_Missense_Mutation_p.R247H|EIF4A1_uc002ghp.1_Missense_Mutation_p.R247H|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.1_5'Flank|CD68_uc002ghu.1_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	247	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						Melanoma(120;278 1668 15796 27423 46368)				115				0.242424	67.345592	75.32702	32	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7421501	7421501	5215	17	G	A	A	38	38	EIF4A1	A	1	1
EIF4A1	1973	broad.mit.edu	36	17	7421893	7421893	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7421893C>T	uc002gho.1	+	c.931C>T	c.(931-933)CGA>TGA	p.R311*	EIF4A1_uc002ghr.1_Nonsense_Mutation_p.R311*|EIF4A1_uc002ghq.1_Nonsense_Mutation_p.R311*|EIF4A1_uc002ghp.1_Nonsense_Mutation_p.R311*|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.1_5'Flank|CD68_uc002ghu.1_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	311	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						Melanoma(120;278 1668 15796 27423 46368)				115				0.354167	131.879576	134.580401	51	93	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	7421893	7421893	5215	17	C	T	T	19	19	EIF4A1	T	5	1
CANT1	124583	broad.mit.edu	36	17	74501248	74501248	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:74501248G>A	uc002jwj.1	-	c.1185C>T	c.(1183-1185)TAC>TAT	p.Y395Y	CANT1_uc002jwk.1_Silent_p.Y395Y|CANT1_uc002jwl.1_Intron|CANT1_uc002jwm.1_Non-coding_Transcript|CANT1_uc002jwn.1_Silent_p.Y395Y	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	395	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0												OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.464286	178.421713	178.579942	65	75	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		Silent	SNP	74501248	74501248	2734	17	G	A	A	40	40	CANT1	A	1	1
C1QTNF1	114897	broad.mit.edu	36	17	74555679	74555679	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:74555679G>A	uc002jwt.1	+	c.1054G>A	c.(1054-1056)GAA>AAA	p.E352K	C1QTNF1_uc002jwp.1_Missense_Mutation_p.E254K|C1QTNF1_uc002jwq.1_Missense_Mutation_p.E172K|C1QTNF1_uc002jwr.2_Missense_Mutation_p.E264K|C1QTNF1_uc002jws.1_Missense_Mutation_p.E254K	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	254	C1q.					collagen				ovary(1)	1														0.227273	52.118126	59.629605	25	85	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		Missense_Mutation	SNP	74555679	74555679	2029	17	G	A	A	37	37	C1QTNF1	A	1	1
SAT2	112483	broad.mit.edu	36	17	7470509	7470509	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7470509C>A	uc002gic.1	-	c.494G>T	c.(493-495)AGA>ATA	p.R165I	SHBG_uc010cmo.1_Intron|SHBG_uc010cmp.1_Intron|SHBG_uc010cmq.1_Intron|SHBG_uc010cmr.1_Intron|SHBG_uc010cms.1_Intron|SHBG_uc010cmt.1_Intron|SHBG_uc010cmu.1_Intron|SAT2_uc002gib.1_Non-coding_Transcript	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family	165	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.0?(1)|p.?(1)			0					Spermine(DB00127)									0.425868	357.729628	359.257423	135	182	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(115;0.166)	Missense_Mutation	SNP	7470509	7470509	14333	17	C	A	A	32	32	SAT2	A	3	3
SHBG	6462	broad.mit.edu	36	17	7476794	7476794	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7476794G>T	uc002gie.1	+	c.853_splice	c.e7-1	p.K285_splice	SHBG_uc010cmo.1_Splice_Site_SNP_p.K173_splice|SHBG_uc010cmp.1_Intron|SHBG_uc010cmq.1_Intron|SHBG_uc010cmr.1_Intron|SHBG_uc010cms.1_Intron|SHBG_uc010cmt.1_Splice_Site_SNP_p.K227_splice|SHBG_uc010cmu.1_Intron|SHBG_uc010cmv.1_Intron|SHBG_uc010cmw.1_Intron|SHBG_uc010cmx.1_Intron|SHBG_uc010cmy.1_Splice_Site_SNP_p.K227_splice|SHBG_uc002gid.2_Intron|SHBG_uc010cmz.1_Intron|SHBG_uc010cna.1_Intron|SHBG_uc010cnb.1_Intron|SHBG_uc010cnc.1_Intron|SHBG_uc010cnd.1_Intron	NM_001040	NP_001031			sex hormone-binding globulin						hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)			0		all_cancers(10;0.0867)			Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)							OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.197183	78.425915	96.626733	42	171	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(115;0.168)	Splice_Site_SNP	SNP	7476794	7476794	14761	17	G	T	T	33	33	SHBG	T	5	3
TP53	7157	broad.mit.edu	36	17	7518937	7518937	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518937G>A	uc002gim.2	-	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.1_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R213*(178)|p.0?(6)|p.R213fs*34(3)|p.R213G(2)|p.D208fs*1(1)|p.R213fs*2(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.R213fs*32(1)|p.R213*33(1)|p.R213R(1)|p.R209fs*6(1)|p.R213W(1)|p.D208_V216delDRNTFRHSV(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	p.R213*(TE14-Tumor)|p.R213*(HEC251-Tumor)|p.R213*(DMS114-Tumor)|p.R213*(MOLT13-Tumor)|p.R213*(SUPT11-Tumor)|p.R213*(TC71-Tumor)|p.R213*(SNU81-Tumor)|p.R213*(IPC298-Tumor)|p.R213*(RERFGC1B-Tumor)|p.R213*(JHOM1-Tumor)|p.R213*(ESS1-Tumor)|p.R213*(HT115-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.961538	331.55558	339.807675	100	4	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Nonsense_Mutation	SNP	7518937	7518937	16923	17	G	A	A	37	37	TP53	A	5	1
ENPP7	339221	broad.mit.edu	36	17	75323495	75323495	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75323495C>T	uc002jxa.1	+	c.458C>T	c.(457-459)GCT>GTT	p.A153V		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	153					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3														0.188889	28.522869	36.680791	17	73	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		Missense_Mutation	SNP	75323495	75323495	5328	17	C	T	T	28	28	ENPP7	T	2	2
CBX2	84733	broad.mit.edu	36	17	75373406	75373406	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75373406C>T	uc002jxc.1	+	c.1569C>T	c.(1567-1569)AGC>AGT	p.S523S		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	523					cell differentiation|chromatin assembly or disassembly|chromatin modification|development of primary sexual characteristics|transcription, DNA-dependent		DNA binding|transcription repressor activity				0														0.210227	73.581678	87.256511	37	139	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		Silent	SNP	75373406	75373406	2837	17	C	T	T	27	27	CBX2	T	1	1
CCDC40	55036	broad.mit.edu	36	17	75646949	75646949	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75646949C>T	uc010dht.1	+	c.1221C>T	c.(1219-1221)ATC>ATT	p.I407I	CCDC40_uc002jxm.2_Silent_p.I190I	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	407	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.M404_D408del(1)		ovary(3)	3	all_neural(118;0.167)													0.210084	50.91051	60.1668	25	94	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		Silent	SNP	75646949	75646949	2934	17	C	T	T	31	31	CCDC40	T	1	1
CCDC40	55036	broad.mit.edu	36	17	75670037	75670037	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75670037A>G	uc010dht.1	+	c.1660A>G	c.(1660-1662)ATC>GTC	p.I554V	CCDC40_uc002jxm.2_Missense_Mutation_p.I337V|CCDC40_uc002jxn.2_5'UTR	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	554	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)													0.381443	103.659437	104.852033	37	60	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		Missense_Mutation	SNP	75670037	75670037	2934	17	A	G	G	8	8	CCDC40	G	4	4
GAA	2548	broad.mit.edu	36	17	75693013	75693013	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75693013G>A	uc002jxo.1	+	c.33G>A	c.(31-33)CGG>CGA	p.R11R	GAA_uc002jxp.1_Silent_p.R11R|GAA_uc002jxq.1_Silent_p.R11R	NM_001079803	NP_001073272	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	11					cardiac muscle contraction|diaphragm contraction|glucose metabolic process|glycogen catabolic process|lysosome organization|maltose metabolic process|sucrose metabolic process|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)				Acarbose(DB00284)									0.42268	113.303727	113.797014	41	56	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Silent	SNP	75693013	75693013	6398	17	G	A	A	42	42	GAA	A	2	2
GAA	2548	broad.mit.edu	36	17	75696042	75696042	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75696042G>A	uc002jxo.1	+	c.784G>A	c.(784-786)GAG>AAG	p.E262K	GAA_uc002jxp.1_Missense_Mutation_p.E262K|GAA_uc002jxq.1_Missense_Mutation_p.E262K	NM_001079803	NP_001073272	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	262			E -> K (in GSD2; infantile; severe).		cardiac muscle contraction|diaphragm contraction|glucose metabolic process|glycogen catabolic process|lysosome organization|maltose metabolic process|sucrose metabolic process|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)				Acarbose(DB00284)									0.487805	282.15614	282.183513	100	105	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Missense_Mutation	SNP	75696042	75696042	6398	17	G	A	A	37	37	GAA	A	1	1
GAA	2548	broad.mit.edu	36	17	75696766	75696766	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75696766G>A	uc002jxo.1	+	c.1038G>A	c.(1036-1038)GAG>GAA	p.E346E	GAA_uc002jxp.1_Silent_p.E346E|GAA_uc002jxq.1_Silent_p.E346E	NM_001079803	NP_001073272	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	346					cardiac muscle contraction|diaphragm contraction|glucose metabolic process|glycogen catabolic process|lysosome organization|maltose metabolic process|sucrose metabolic process|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)				Acarbose(DB00284)									0.456989	247.648746	247.948812	85	101	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Silent	SNP	75696766	75696766	6398	17	G	A	A	34	34	GAA	A	2	2
GAA	2548	broad.mit.edu	36	17	75701020	75701020	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75701020G>A	uc002jxo.1	+	c.1803G>A	c.(1801-1803)TCG>TCA	p.S601S	GAA_uc002jxp.1_Silent_p.S601S|GAA_uc002jxq.1_Silent_p.S601S	NM_001079803	NP_001073272	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	601					cardiac muscle contraction|diaphragm contraction|glucose metabolic process|glycogen catabolic process|lysosome organization|maltose metabolic process|sucrose metabolic process|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)				Acarbose(DB00284)									0.375	53.858097	54.627179	21	35	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Silent	SNP	75701020	75701020	6398	17	G	A	A	37	37	GAA	A	1	1
GAA	2548	broad.mit.edu	36	17	75707191	75707191	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75707191G>A	uc002jxo.1	+	c.2791G>A	c.(2791-2793)GAC>AAC	p.D931N	GAA_uc002jxp.1_Missense_Mutation_p.D931N|GAA_uc002jxq.1_Missense_Mutation_p.D931N	NM_001079803	NP_001073272	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	931					cardiac muscle contraction|diaphragm contraction|glucose metabolic process|glycogen catabolic process|lysosome organization|maltose metabolic process|sucrose metabolic process|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)				Acarbose(DB00284)									0.208333	50.10493	59.564019	25	95	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Missense_Mutation	SNP	75707191	75707191	6398	17	G	A	A	37	37	GAA	A	1	1
EIF4A3	9775	broad.mit.edu	36	17	75726638	75726638	+	Silent	SNP	G	A	A	rs61756263	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75726638G>A	uc002jxs.1	-	c.765C>T	c.(763-765)TTC>TTT	p.F255F		NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	255	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			ovary(1)	1	all_neural(118;0.117)													0.429134	306.025465	307.139198	109	145	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Silent	SNP	75726638	75726638	5217	17	G	A	A	37	37	EIF4A3	A	1	1
CARD14	79092	broad.mit.edu	36	17	75771094	75771094	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75771094G>A	uc002jxw.1	+	c.259G>A	c.(259-261)GCC>ACC	p.A87T	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.2_Missense_Mutation_p.A87T	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	87	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)									565				0.275862	53.661827	57.598635	24	63	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		Missense_Mutation	SNP	75771094	75771094	2765	17	G	A	A	38	38	CARD14	A	1	1
CARD14	79092	broad.mit.edu	36	17	75790714	75790714	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75790714G>A	uc002jxw.1	+	c.2119G>A	c.(2119-2121)GAC>AAC	p.D707N	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.2_Missense_Mutation_p.D707N	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	707					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)									565				0.221477	68.093483	78.735888	33	116	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		Missense_Mutation	SNP	75790714	75790714	2765	17	G	A	A	37	37	CARD14	A	1	1
SGSH	6448	broad.mit.edu	36	17	75799374	75799374	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75799374C>T	uc002jxz.2	-	c.981G>A	c.(979-981)TCG>TCA	p.S327S	SGSH_uc002jya.2_Silent_p.S124S|SGSH_uc002jxy.2_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase precursor	327					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0952)													0.217822	45.61433	53.016113	22	79	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		Silent	SNP	75799374	75799374	14712	17	C	T	T	31	31	SGSH	T	1	1
DNAH2	146754	broad.mit.edu	36	17	7581297	7581297	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7581297G>A	uc002giu.1	+	c.1166G>A	c.(1165-1167)CGA>CAA	p.R389Q	DNAH2_uc002git.2_Missense_Mutation_p.R389Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	389	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.381944	150.78547	152.547208	55	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7581297	7581297	4785	17	G	A	A	37	37	DNAH2	A	1	1
SLC26A11	284129	broad.mit.edu	36	17	75816225	75816225	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75816225G>A	uc002jyb.1	+	c.607G>A	c.(607-609)GTC>ATC	p.V203I	SLC26A11_uc002jyc.1_Missense_Mutation_p.V203I|SLC26A11_uc002jyd.1_Missense_Mutation_p.V203I|SLC26A11_uc010dhv.1_Missense_Mutation_p.V203I	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	203	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)													0.421429	305.554527	307.069497	118	162	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		Missense_Mutation	SNP	75816225	75816225	15013	17	G	A	A	40	40	SLC26A11	A	1	1
SLC26A11	284129	broad.mit.edu	36	17	75836975	75836975	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75836975G>A	uc002jyb.1	+	c.1429G>A	c.(1429-1431)GAG>AAG	p.E477K	SLC26A11_uc002jyc.1_Missense_Mutation_p.E477K|SLC26A11_uc002jyd.1_Missense_Mutation_p.E477K|SLC26A11_uc010dhv.1_Missense_Mutation_p.E477K	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	477	Extracellular (Potential).|STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)													0.357143	14.770761	15.022578	5	9	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		Missense_Mutation	SNP	75836975	75836975	15013	17	G	A	A	33	33	SLC26A11	A	2	2
DNAH2	146754	broad.mit.edu	36	17	7584524	7584524	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7584524G>A	uc002giu.1	+	c.1438G>A	c.(1438-1440)GAG>AAG	p.E480K	DNAH2_uc002git.2_Missense_Mutation_p.E562K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	480	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.460937	496.715194	497.226635	177	207	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7584524	7584524	4785	17	G	A	A	37	37	DNAH2	A	1	1
DNAH2	146754	broad.mit.edu	36	17	7587068	7587068	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7587068G>A	uc002giu.1	+	c.1787G>A	c.(1786-1788)CGA>CAA	p.R596Q	DNAH2_uc002git.2_Missense_Mutation_p.R678Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	596	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.445161	191.049331	191.455733	69	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7587068	7587068	4785	17	G	A	A	37	37	DNAH2	A	1	1
RNF213	57674	broad.mit.edu	36	17	75938745	75938745	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75938745G>T	uc002jyh.1	+	c.4357G>T	c.(4357-4359)GAT>TAT	p.D1453Y		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	12	all_neural(118;0.0538)													0.454545	174.840362	175.099715	65	78	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		Missense_Mutation	SNP	75938745	75938745	13955	17	G	T	T	33	33	RNF213	T	3	3
DNAH2	146754	broad.mit.edu	36	17	7603655	7603655	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7603655T>C	uc002giu.1	+	c.2637_splice	c.e15+2	p.Q879_splice		NM_020877	NP_065928			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)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.4625	251.650353	251.844149	74	86	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	7603655	7603655	4785	17	T	C	C	57	57	DNAH2	C	5	4
DNAH2	146754	broad.mit.edu	36	17	7608209	7608209	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7608209C>T	uc002giu.1	+	c.3229C>T	c.(3229-3231)CTC>TTC	p.L1077F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1077	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.244186	94.052839	104.320529	42	130	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7608209	7608209	4785	17	C	T	T	28	28	DNAH2	T	2	2
DNAH2	146754	broad.mit.edu	36	17	7614643	7614643	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7614643A>G	uc002giu.1	+	c.4142A>G	c.(4141-4143)GAC>GGC	p.D1381G		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1381	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.16875	119.761101	153.001854	54	266	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7614643	7614643	4785	17	A	G	G	10	10	DNAH2	G	4	4
RPTOR	57521	broad.mit.edu	36	17	76296376	76296376	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:76296376G>T	uc002jyt.1	+	c.489G>T	c.(487-489)GAG>GAT	p.E163D	RPTOR_uc002jys.2_Missense_Mutation_p.E163D	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor	163					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)	5										1368				0.222222	33.05715	38.172664	16	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76296376	76296376	14145	17	G	T	T	35	35	RPTOR	T	3	3
DNAH2	146754	broad.mit.edu	36	17	7630719	7630719	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7630719C>T	uc002giu.1	+	c.6455C>T	c.(6454-6456)ACG>ATG	p.T2152M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2152	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)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.390071	148.495585	149.986709	55	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7630719	7630719	4785	17	C	T	T	19	19	DNAH2	T	1	1
DNAH2	146754	broad.mit.edu	36	17	7631023	7631023	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7631023G>A	uc002giu.1	+	c.6550G>A	c.(6550-6552)GAT>AAT	p.D2184N		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2184	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)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.448276	105.392654	105.597866	39	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7631023	7631023	4785	17	G	A	A	37	37	DNAH2	A	1	1
DNAH2	146754	broad.mit.edu	36	17	7636319	7636319	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7636319G>A	uc002giu.1	+	c.7078G>A	c.(7078-7080)GAC>AAC	p.D2360N		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2360					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.192308	91.533701	112.231118	45	189	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7636319	7636319	4785	17	G	A	A	41	41	DNAH2	A	2	2
RPTOR	57521	broad.mit.edu	36	17	76411525	76411525	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:76411525G>A	uc002jyt.1	+	c.1043G>A	c.(1042-1044)CGA>CAA	p.R348Q	RPTOR_uc002jys.2_Missense_Mutation_p.R348Q	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor	348					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)	5										1368				0.517986	404.841374	404.933384	144	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76411525	76411525	14145	17	G	A	A	37	37	RPTOR	A	1	1
DNAH2	146754	broad.mit.edu	36	17	7645986	7645986	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7645986G>T	uc002giu.1	+	c.8898G>T	c.(8896-8898)AAG>AAT	p.K2966N	DNAH2_uc010cnm.1_5'Flank	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2966	AAA 4 (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)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.491597	317.534108	317.549303	117	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7645986	7645986	4785	17	G	T	T	33	33	DNAH2	T	3	3
DNAH2	146754	broad.mit.edu	36	17	7660700	7660700	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7660700G>T	uc002giu.1	+	c.9816G>T	c.(9814-9816)ATG>ATT	p.M3272I	DNAH2_uc010cnm.1_Missense_Mutation_p.M210I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3272	Potential.|Stalk (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)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.448087	227.396539	227.829859	82	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7660700	7660700	4785	17	G	T	T	47	47	DNAH2	T	3	3
DNAH2	146754	broad.mit.edu	36	17	7661431	7661431	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7661431G>T	uc002giu.1	+	c.9993G>T	c.(9991-9993)GAG>GAT	p.E3331D	DNAH2_uc010cnm.1_Missense_Mutation_p.E269D	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3331					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.226852	99.042125	113.856144	49	167	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7661431	7661431	4785	17	G	T	T	33	33	DNAH2	T	3	3
DNAH2	146754	broad.mit.edu	36	17	7661645	7661645	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7661645C>T	uc002giu.1	+	c.10062C>T	c.(10060-10062)ATC>ATT	p.I3354I	DNAH2_uc010cnm.1_Silent_p.I292I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3354					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.236364	197.240411	221.701633	91	294	CC		KEEP	---	---	---	---	capture			Silent	SNP	7661645	7661645	4785	17	C	T	T	31	31	DNAH2	T	1	1
DNAH2	146754	broad.mit.edu	36	17	7675174	7675174	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7675174C>T	uc002giu.1	+	c.12276C>T	c.(12274-12276)CTC>CTT	p.L4092L	DNAH2_uc010cnm.1_Silent_p.L1030L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4092	TPR 4.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.201024	314.850072	379.744184	157	624	CC		KEEP	---	---	---	---	capture			Silent	SNP	7675174	7675174	4785	17	C	T	T	31	31	DNAH2	T	1	1
AZI1	22994	broad.mit.edu	36	17	76782384	76782384	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:76782384C>T	uc002jzp.1	-	c.2267G>A	c.(2266-2268)CGG>CAG	p.R756Q	AZI1_uc002jzn.1_Missense_Mutation_p.R753Q|AZI1_uc002jzo.1_Missense_Mutation_p.R753Q|AZI1_uc002jzm.1_Missense_Mutation_p.R183Q|AZI1_uc002jzq.2_5'UTR	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	756					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(118;0.0804)|Melanoma(429;0.242)													0.421053	22.796468	22.899836	8	11	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		Missense_Mutation	SNP	76782384	76782384	1261	17	C	T	T	23	23	AZI1	T	1	1
KDM6B	23135	broad.mit.edu	36	17	7692638	7692638	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7692638G>T	uc002giw.1	+	c.2307G>T	c.(2305-2307)AAG>AAT	p.K769N	KDM6B_uc002gix.2_Missense_Mutation_p.K71N	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	jumonji domain containing 3, histone lysine	769	Pro-rich.				inflammatory response|oxidation-reduction process	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			pancreas(1)	1														0.1875	8.325578	11.261174	6	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7692638	7692638	8444	17	G	T	T	33	33	KDM6B	T	3	3
BAHCC1	57597	broad.mit.edu	36	17	77024872	77024872	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77024872G>T	uc002kaf.2	+	c.1902G>T	c.(1900-1902)AAG>AAT	p.K634N	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	634							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)													0.271605	48.306224	52.122618	22	59	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		Missense_Mutation	SNP	77024872	77024872	1317	17	G	T	T	33	33	BAHCC1	T	3	3
BAHCC1	57597	broad.mit.edu	36	17	77027076	77027076	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77027076C>T	uc002kaf.2	+	c.2937C>T	c.(2935-2937)GGC>GGT	p.G979G	BAHCC1_uc002kae.2_Silent_p.G178G	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	979	Pro-rich.						DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)													0.705882	33.193043	33.834216	12	5	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		Silent	SNP	77027076	77027076	1317	17	C	T	T	27	27	BAHCC1	T	1	1
CYB5D1	124637	broad.mit.edu	36	17	7702777	7702777	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7702777G>A	uc002gjb.2	+	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q	LSMD1_uc002giz.1_5'Flank|LSMD1_uc002gja.1_5'Flank|CYB5D1_uc010cnn.1_Silent_p.Q122Q	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	122							heme binding				0		all_cancers(10;0.11)|Prostate(122;0.219)										OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.471429	197.978819	198.073192	66	74	GG		KEEP	---	---	---	---	capture			Silent	SNP	7702777	7702777	4289	17	G	A	A	35	35	CYB5D1	A	2	2
BAHCC1	57597	broad.mit.edu	36	17	77044486	77044486	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77044486C>T	uc002kaf.2	+	c.7509C>T	c.(7507-7509)ATC>ATT	p.I2503I		NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	2503	BAH.						DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)													0.366667	166.585595	169.404772	66	114	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		Silent	SNP	77044486	77044486	1317	17	C	T	T	31	31	BAHCC1	T	1	1
NPLOC4	55666	broad.mit.edu	36	17	77136784	77136784	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77136784A>G	uc002kat.2	-	c.1772T>C	c.(1771-1773)TTC>TCC	p.F591S	NPLOC4_uc002kar.1_Non-coding_Transcript|NPLOC4_uc010dic.1_Non-coding_Transcript|NPLOC4_uc002kas.1_3'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	591	RanBP2-type.				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)													0.206897	13.633991	15.944159	6	23	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Missense_Mutation	SNP	77136784	77136784	10991	17	A	G	G	9	9	NPLOC4	G	4	4
NPLOC4	55666	broad.mit.edu	36	17	77184183	77184183	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77184183C>T	uc002kau.2	-	c.630G>A	c.(628-630)CCG>CCA	p.P210P	NPLOC4_uc002kat.2_Silent_p.P210P	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	210					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)													0.25	66.491705	73.311678	30	90	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Silent	SNP	77184183	77184183	10991	17	C	T	T	31	31	NPLOC4	T	1	1
P4HB	5034	broad.mit.edu	36	17	77397777	77397777	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77397777G>A	uc002kbn.1	-	c.873C>T	c.(871-873)ATC>ATT	p.I291I	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	291					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)					Colon(49;444 983 1296 7887 42561)			p.I291I(NCIH2126-Tumor)	156				0.164948	26.134632	36.47683	16	81	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		Silent	SNP	77397777	77397777	11772	17	G	A	A	37	37	P4HB	A	1	1
ARHGDIA	396	broad.mit.edu	36	17	77420359	77420359	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77420359T>C	uc002kbt.1	-	c.394A>G	c.(394-396)ACG>GCG	p.T132A	ARHGDIA_uc002kbp.1_Missense_Mutation_p.T132A|ARHGDIA_uc002kbq.1_Missense_Mutation_p.T132A|ARHGDIA_uc002kbr.1_Missense_Mutation_p.T132A|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc010dig.1_Non-coding_Transcript	NM_004309	NP_004300	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	132					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)													0.192308	13.266792	15.559876	5	21	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Missense_Mutation	SNP	77420359	77420359	904	17	T	C	C	57	57	ARHGDIA	C	4	4
PCYT2	5833	broad.mit.edu	36	17	77456097	77456097	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77456097C>T	uc002kch.1	-	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A	PCYT2_uc002kce.1_Silent_p.A280A|PCYT2_uc002kcf.1_Silent_p.A358A|PCYT2_uc002kcg.1_Silent_p.A387A|PCYT2_uc002kci.1_Silent_p.A317A|PCYT2_uc010dii.1_Silent_p.A336A	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	358					phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)													0.296296	18.487127	19.490767	8	19	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Silent	SNP	77456097	77456097	12033	17	C	T	T	27	27	PCYT2	T	1	1
NOTUM	147111	broad.mit.edu	36	17	77504240	77504240	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77504240C>T	uc002kcv.1	-	c.1180G>A	c.(1180-1182)GAG>AAG	p.E394K		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog	460						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)													0.148649	18.772109	27.542084	11	63	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Missense_Mutation	SNP	77504240	77504240	10956	17	C	T	T	32	32	NOTUM	T	2	2
CHD3	1107	broad.mit.edu	36	17	7750724	7750724	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7750724C>T	uc002gjd.2	+	c.4622C>T	c.(4621-4623)TCT>TTT	p.S1541F	CHD3_uc002gje.2_Missense_Mutation_p.S1496F|CHD3_uc002gjf.2_Missense_Mutation_p.S1496F|CHD3_uc002gjh.2_Missense_Mutation_p.S72F|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1496					chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)												0.222798	101.212555	114.861671	43	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7750724	7750724	3460	17	C	T	T	32	32	CHD3	T	2	2
CHD3	1107	broad.mit.edu	36	17	7751283	7751283	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7751283A>G	uc002gjd.2	+	c.4916A>G	c.(4915-4917)GAG>GGG	p.E1639G	CHD3_uc002gje.2_Missense_Mutation_p.E1594G|CHD3_uc002gjf.2_Missense_Mutation_p.E1594G|CHD3_uc002gjh.2_Missense_Mutation_p.E170G|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1594	Required for interaction with PCNT.				chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)												0.236842	70.462995	77.683388	27	87	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7751283	7751283	3460	17	A	G	G	11	11	CHD3	G	4	4
CHD3	1107	broad.mit.edu	36	17	7751743	7751743	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7751743G>T	uc002gjd.2	+	c.5159G>T	c.(5158-5160)AGA>ATA	p.R1720I	CHD3_uc002gje.2_Missense_Mutation_p.R1675I|CHD3_uc002gjf.2_Intron|CHD3_uc002gjh.2_Missense_Mutation_p.R251I|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1675	Required for interaction with PCNT.				chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)												0.466667	16.314502	16.329681	7	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7751743	7751743	3460	17	G	T	T	33	33	CHD3	T	3	3
ASPSCR1	79058	broad.mit.edu	36	17	77566473	77566473	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77566473C>T	uc002kcy.1	+	c.1587C>T	c.(1585-1587)GGC>GGT	p.G529G	ASPSCR1_uc002kcw.1_Intron|ASPSCR1_uc002kcx.1_Intron|ASPSCR1_uc002kcz.1_Intron|ASPSCR1_uc002kda.1_Intron	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	532							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)	161	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)									254				0.429907	123.730996	124.189078	46	61	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		Silent	SNP	77566473	77566473	1078	17	C	T	T	27	27	ASPSCR1	T	1	1
DUS1L	64118	broad.mit.edu	36	17	77611129	77611129	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77611129G>A	uc002kdq.1	-	c.1152C>T	c.(1150-1152)TTC>TTT	p.F384F	DUS1L_uc002kdp.1_Silent_p.F253F|DUS1L_uc002kdr.1_Silent_p.F384F|DUS1L_uc002kds.1_Non-coding_Transcript|DUS1L_uc002kdt.1_Non-coding_Transcript	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	384					oxidation-reduction process|tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)													0.185484	82.489774	105.514507	46	202	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		Silent	SNP	77611129	77611129	4990	17	G	A	A	37	37	DUS1L	A	1	1
FASN	2194	broad.mit.edu	36	17	77631571	77631571	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77631571G>A	uc002kdu.1	-	c.7011C>T	c.(7009-7011)TTC>TTT	p.F2337F	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2337	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)				Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	Colon(59;314 1043 11189 28578 32273)				1201				0.607143	51.378579	51.65973	17	11	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Silent	SNP	77631571	77631571	5919	17	G	A	A	37	37	FASN	A	1	1
FASN	2194	broad.mit.edu	36	17	77632057	77632057	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77632057C>A	uc002kdu.1	-	c.6626G>T	c.(6625-6627)GGT>GTT	p.G2209V	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2209	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)				Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	Colon(59;314 1043 11189 28578 32273)				1201				0.419355	35.974003	36.148611	13	18	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Missense_Mutation	SNP	77632057	77632057	5919	17	C	A	A	18	18	FASN	A	3	3
FASN	2194	broad.mit.edu	36	17	77633824	77633824	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77633824G>A	uc002kdu.1	-	c.5787C>T	c.(5785-5787)GTC>GTT	p.V1929V	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1929	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)				Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	Colon(59;314 1043 11189 28578 32273)				1201				0.477273	112.135169	112.174691	42	46	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Silent	SNP	77633824	77633824	5919	17	G	A	A	41	41	FASN	A	2	2
FASN	2194	broad.mit.edu	36	17	77637603	77637603	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77637603G>A	uc002kdu.1	-	c.3548C>T	c.(3547-3549)TCG>TTG	p.S1183L	FASN_uc002kdw.1_Missense_Mutation_p.S399L	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1183					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)				Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	Colon(59;314 1043 11189 28578 32273)				1201				0.537313	100.90212	100.983916	36	31	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Missense_Mutation	SNP	77637603	77637603	5919	17	G	A	A	37	37	FASN	A	1	1
FASN	2194	broad.mit.edu	36	17	77644393	77644393	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77644393C>T	uc002kdu.1	-	c.646G>A	c.(646-648)GAC>AAC	p.D216N		NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	216	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)				Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	Colon(59;314 1043 11189 28578 32273)				1201				0.333333	13.169305	13.538662	5	10	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Missense_Mutation	SNP	77644393	77644393	5919	17	C	T	T	31	31	FASN	T	1	1
CNTROB	116840	broad.mit.edu	36	17	7777352	7777352	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7777352G>A	uc002gjp.1	+	c.230G>A	c.(229-231)CGA>CAA	p.R77Q	TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjq.1_Missense_Mutation_p.R77Q|CNTROB_uc002gjr.1_5'Flank	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	77					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)												0.173077	46.437914	62.180601	27	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7777352	7777352	3789	17	G	A	A	37	37	CNTROB	A	1	1
SLC16A3	9123	broad.mit.edu	36	17	77787956	77787956	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77787956C>A	uc002kea.1	+	c.286C>A	c.(286-288)CTC>ATC	p.L96I	SLC16A3_uc002keb.1_Missense_Mutation_p.L96I|SLC16A3_uc002kec.1_Missense_Mutation_p.L96I|SLC16A3_uc002ked.1_Missense_Mutation_p.L96I|SLC16A3_uc002kee.1_Missense_Mutation_p.L96I	NM_001042422	NP_004198	O15427	MOT4_HUMAN	solute carrier family 16, member 3	96	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			lung(1)	1	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)				Pyruvic acid(DB00119)	Pancreas(52;652 1135 19190 37282 52456)				140		OREG0024821	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.178899	56.011178	77.323553	39	179	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Missense_Mutation	SNP	77787956	77787956	14905	17	C	A	A	32	32	SLC16A3	A	3	3
CD7	924	broad.mit.edu	36	17	77867863	77867863	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77867863G>T	uc002kel.1	-	c.366C>A	c.(364-366)GTC>GTA	p.V122V	CD7_uc010din.1_Silent_p.V122V|CD7_uc002kem.1_Missense_Mutation_p.L104I	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	122	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)					Pancreas(45;804 1068 19702 28207 28798)								0.445122	390.765378	391.631494	146	182	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		Silent	SNP	77867863	77867863	3160	17	G	T	T	33	33	CD7	T	3	3
SECTM1	6398	broad.mit.edu	36	17	77874097	77874097	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77874097G>A	uc002keo.1	-	c.483C>T	c.(481-483)GTC>GTT	p.V161V	SECTM1_uc002ken.1_Silent_p.V159V|SECTM1_uc002kep.1_Intron	NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1 precursor	161	Helical; (Potential).				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)													0.4	87.481794	88.181832	32	48	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		Silent	SNP	77874097	77874097	14494	17	G	A	A	37	37	SECTM1	A	1	1
CNTROB	116840	broad.mit.edu	36	17	7789875	7789875	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7789875G>A	uc002gjp.1	+	c.1839G>A	c.(1837-1839)TTG>TTA	p.L613L	CNTROB_uc002gjq.1_Silent_p.L613L|CNTROB_uc002gjr.1_Silent_p.L515L	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	613	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)												0.493711	418.859148	418.871466	157	161	GG		KEEP	---	---	---	---	capture			Silent	SNP	7789875	7789875	3789	17	G	A	A	46	46	CNTROB	A	2	2
TEX19	400629	broad.mit.edu	36	17	77913572	77913572	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77913572G>T	uc002keq.1	+	c.257G>T	c.(256-258)AGC>ATC	p.S86I	TEX19_uc010dio.1_Missense_Mutation_p.S86I	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	hypothetical protein LOC400629	86						nucleus					0														0.235632	78.859985	90.019874	41	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77913572	77913572	16307	17	G	T	T	34	34	TEX19	T	3	3
CNTROB	116840	broad.mit.edu	36	17	7791649	7791649	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7791649G>A	uc002gjp.1	+	c.2029G>A	c.(2029-2031)GAT>AAT	p.D677N	CNTROB_uc002gjq.1_Missense_Mutation_p.D677N|CNTROB_uc002gjr.1_Missense_Mutation_p.D579N	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	677	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)												0.448421	595.278256	596.383277	213	262	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7791649	7791649	3789	17	G	A	A	37	37	CNTROB	A	1	1
HEXDC	284004	broad.mit.edu	36	17	77990800	77990800	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77990800G>A	uc002kev.2	+	c.904G>A	c.(904-906)GAC>AAC	p.D302N	HEXDC_uc010diq.1_Missense_Mutation_p.D302N|HEXDC_uc002kew.1_Missense_Mutation_p.D302N	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20,	302					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)													0.165323	63.944066	90.315854	41	207	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		Missense_Mutation	SNP	77990800	77990800	7358	17	G	A	A	37	37	HEXDC	A	1	1
NARF	26502	broad.mit.edu	36	17	78020035	78020035	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:78020035G>T	uc010dit.1	+	c.359G>T	c.(358-360)AGA>ATA	p.R120I	NARF_uc002kff.2_Missense_Mutation_p.R61I|NARF_uc002kfg.2_Missense_Mutation_p.R120I|NARF_uc002kfj.2_Missense_Mutation_p.R72I|NARF_uc002kfi.2_Non-coding_Transcript|NARF_uc002kfh.2_Missense_Mutation_p.R120I|NARF_uc002kfk.1_Non-coding_Transcript	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform b	120						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)													0.18552	71.024617	91.538345	41	180	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		Missense_Mutation	SNP	78020035	78020035	10563	17	G	T	T	33	33	NARF	T	3	3
NARF	26502	broad.mit.edu	36	17	78029984	78029984	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:78029984G>A	uc010dit.1	+	c.540G>A	c.(538-540)GAG>GAA	p.E180E	NARF_uc002kff.2_Silent_p.E121E|NARF_uc002kfg.2_Silent_p.E180E|NARF_uc002kfj.2_Silent_p.E132E|NARF_uc002kfi.2_Non-coding_Transcript|NARF_uc002kfh.2_Silent_p.E180E|NARF_uc002kfk.1_Non-coding_Transcript	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform b	180						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)													0.223529	42.106073	48.06253	19	66	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		Silent	SNP	78029984	78029984	10563	17	G	A	A	34	34	NARF	A	2	2
FOXK2	3607	broad.mit.edu	36	17	78134088	78134088	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:78134088G>A	uc002kfn.1	+	c.1092G>A	c.(1090-1092)CCG>CCA	p.P364P	FOXK2_uc002kfm.1_Silent_p.P364P|FOXK2_uc010diu.1_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	364					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter 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	Breast(20;0.00106)|all_neural(118;0.0952)													0.302083	67.329522	70.692658	29	67	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		Silent	SNP	78134088	78134088	6261	17	G	A	A	38	38	FOXK2	A	1	1
FN3KRP	79672	broad.mit.edu	36	17	78271505	78271505	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:78271505G>A	uc002kfu.1	+	c.362G>A	c.(361-363)CGC>CAC	p.R121H		NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	121							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)													0.211538	63.790122	75.797236	33	123	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		Missense_Mutation	SNP	78271505	78271505	6206	17	G	A	A	38	38	FN3KRP	A	1	1
FN3K	64122	broad.mit.edu	36	17	78301673	78301673	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:78301673T>C	uc002kfv.1	+	c.683T>C	c.(682-684)GTG>GCG	p.V228A	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.1_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	228					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)					Melanoma(10;391 597 14592 32548 32749)								0.396011	414.778351	418.090049	139	212	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		Missense_Mutation	SNP	78301673	78301673	6205	17	T	C	C	59	59	FN3K	C	4	4
ZNF750	79755	broad.mit.edu	36	17	78382850	78382850	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:78382850G>A	uc002kga.1	-	c.770C>T	c.(769-771)TCG>TTG	p.S257L	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.1_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	257						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)												0.413793	193.143539	194.277647	72	102	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		Missense_Mutation	SNP	78382850	78382850	18730	17	G	A	A	37	37	ZNF750	A	1	1
GUCY2D	3000	broad.mit.edu	36	17	7856515	7856515	+	Missense_Mutation	SNP	G	A	A	rs61750162	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7856515G>A	uc002gjt.2	+	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane	660	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|protein phosphorylation|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)								285				0.497512	287.293077	287.294128	100	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7856515	7856515	7177	17	G	A	A	37	37	GUCY2D	A	1	1
ALOX15B	247	broad.mit.edu	36	17	7889406	7889406	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7889406G>A	uc002gju.1	+	c.975G>A	c.(973-975)CCG>CCA	p.P325P	ALOX15B_uc002gjv.1_Silent_p.P325P|ALOX15B_uc002gjw.1_Silent_p.P325P|ALOX15B_uc010cnp.1_Silent_p.P131P	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	325	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|oxidation-reduction process|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1														0.472441	153.085708	153.168519	60	67	GG		KEEP	---	---	---	---	capture			Silent	SNP	7889406	7889406	542	17	G	A	A	38	38	ALOX15B	A	1	1
ALOX12B	242	broad.mit.edu	36	17	7917783	7917783	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7917783G>A	uc002gjy.1	-	c.1672C>T	c.(1672-1674)CGA>TGA	p.R558*		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	558	Lipoxygenase.				epidermis development|leukotriene biosynthetic process|oxidation-reduction process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0											Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.209302	17.049862	20.416047	9	34	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	7917783	7917783	540	17	G	A	A	38	38	ALOX12B	A	5	1
ALOX12B	242	broad.mit.edu	36	17	7924309	7924309	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7924309T>C	uc002gjy.1	-	c.723A>G	c.(721-723)AAA>AAG	p.K241K		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	241	Lipoxygenase.				epidermis development|leukotriene biosynthetic process|oxidation-reduction process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0											Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.4375	493.322363	494.457034	147	189	TT		KEEP	---	---	---	---	capture			Silent	SNP	7924309	7924309	540	17	T	C	C	64	64	ALOX12B	C	4	4
ALOXE3	59344	broad.mit.edu	36	17	7955492	7955492	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7955492G>T	uc002gka.1	-	c.1335C>A	c.(1333-1335)TGC>TGA	p.C445*	ALOXE3_uc010cnr.1_Nonsense_Mutation_p.C289*	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	289	Lipoxygenase.				leukotriene biosynthetic process|oxidation-reduction process		iron ion binding|lipoxygenase activity			lung(1)|central_nervous_system(1)	2														0.215517	54.708222	63.375586	25	91	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	7955492	7955492	545	17	G	T	T	46	46	ALOXE3	T	5	3
ALOXE3	59344	broad.mit.edu	36	17	7959053	7959053	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7959053C>T	uc002gka.1	-	c.950G>A	c.(949-951)AGC>AAC	p.S317N	ALOXE3_uc010cnr.1_Missense_Mutation_p.S161N	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	161	Lipoxygenase.				leukotriene biosynthetic process|oxidation-reduction process		iron ion binding|lipoxygenase activity			lung(1)|central_nervous_system(1)	2														0.416851	558.103463	560.829395	188	263	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7959053	7959053	545	17	C	T	T	28	28	ALOXE3	T	2	2
PER1	5187	broad.mit.edu	36	17	7987892	7987892	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7987892C>A	uc002gkd.1	-	c.2489G>T	c.(2488-2490)AGC>ATC	p.S830I	PER1_uc010cns.1_5'Flank	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	830	Nuclear localization signal (By similarity).				circadian rhythm|entrainment of circadian clock|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(2)|ovary(1)|large_intestine(1)|kidney(1)|skin(1)	6										239				0.443396	114.033408	114.320552	47	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7987892	7987892	12150	17	C	A	A	28	28	PER1	A	3	3
PER1	5187	broad.mit.edu	36	17	7993669	7993669	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7993669C>T	uc002gkd.1	-	c.689G>A	c.(688-690)CGA>CAA	p.R230Q	PER1_uc002gke.2_Missense_Mutation_p.R230Q	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	230	PAS 1.				circadian rhythm|entrainment of circadian clock|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(2)|ovary(1)|large_intestine(1)|kidney(1)|skin(1)	6										239				0.216931	81.463971	95.447122	41	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7993669	7993669	12150	17	C	T	T	31	31	PER1	T	1	1
C17orf59	54785	broad.mit.edu	36	17	8033707	8033707	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8033707G>T	uc002gkl.2	-	c.75C>A	c.(73-75)TTC>TTA	p.F25L		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	159											0														0.186441	16.384568	21.831292	11	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8033707	8033707	1924	17	G	T	T	33	33	C17orf59	T	3	3
C17orf68	80169	broad.mit.edu	36	17	8076418	8076418	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8076418C>A	uc002gkq.2	-	c.2046G>T	c.(2044-2046)CAG>CAT	p.Q682H	C17orf68_uc010cnv.1_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	682					telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0														0.225979	257.694338	296.490797	127	435	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8076418	8076418	1933	17	C	A	A	32	32	C17orf68	A	3	3
C17orf68	80169	broad.mit.edu	36	17	8079109	8079109	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8079109C>T	uc002gkq.2	-	c.1426G>A	c.(1426-1428)GAG>AAG	p.E476K	C17orf68_uc010cnv.1_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	476					telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0														0.183673	48.952724	62.75231	27	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8079109	8079109	1933	17	C	T	T	30	30	C17orf68	T	2	2
C17orf68	80169	broad.mit.edu	36	17	8082118	8082118	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8082118G>A	uc002gkq.2	-	c.603C>T	c.(601-603)ATC>ATT	p.I201I	C17orf68_uc010cnv.1_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	201					telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0														0.408867	229.971315	231.447986	83	120	GG		KEEP	---	---	---	---	capture			Silent	SNP	8082118	8082118	1933	17	G	A	A	41	41	C17orf68	A	2	2
PFAS	5198	broad.mit.edu	36	17	8100598	8100598	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8100598C>T	uc002gkr.1	+	c.853C>T	c.(853-855)CGG>TGG	p.R285W		NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	285					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.422018	121.523605	122.103134	46	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8100598	8100598	12176	17	C	T	T	19	19	PFAS	T	1	1
PFAS	5198	broad.mit.edu	36	17	8102118	8102118	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8102118C>T	uc002gkr.1	+	c.1212C>T	c.(1210-1212)TTC>TTT	p.F404F		NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	404					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.252336	119.963443	131.877348	54	160	CC		KEEP	---	---	---	---	capture			Silent	SNP	8102118	8102118	12176	17	C	T	T	31	31	PFAS	T	1	1
ARHGEF15	22899	broad.mit.edu	36	17	8157177	8157177	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8157177C>T	uc002glc.1	+	c.814C>T	c.(814-816)CGC>TGC	p.R272C	ARHGEF15_uc002glb.1_3'UTR|ARHGEF15_uc002gld.1_Missense_Mutation_p.R272C	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	272					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2														0.233333	40.520166	46.390768	21	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8157177	8157177	912	17	C	T	T	27	27	ARHGEF15	T	1	1
ARHGEF15	22899	broad.mit.edu	36	17	8157224	8157224	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8157224G>A	uc002glc.1	+	c.861G>A	c.(859-861)AGG>AGA	p.R287R	ARHGEF15_uc002glb.1_3'UTR|ARHGEF15_uc002gld.1_Silent_p.R287R	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	287					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2														0.197674	66.302294	80.90788	34	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	8157224	8157224	912	17	G	A	A	42	42	ARHGEF15	A	2	2
KRBA2	124751	broad.mit.edu	36	17	8214369	8214369	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8214369G>A	uc002glf.1	-	c.287C>T	c.(286-288)TCA>TTA	p.S96L	KRBA2_uc002glg.1_Missense_Mutation_p.S13L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	96	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0														0.183784	62.326434	79.699966	34	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8214369	8214369	8755	17	G	A	A	45	45	KRBA2	A	2	2
NXN	64359	broad.mit.edu	36	17	829410	829410	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:829410C>T	uc002fsa.1	-	c.259G>A	c.(259-261)GAG>AAG	p.E87K		NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	87					cell differentiation|cell redox homeostasis|multicellular organismal development|oxidation-reduction process|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4														0.625	27.103415	27.312182	10	6	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	Missense_Mutation	SNP	829410	829410	11192	17	C	T	T	30	30	NXN	T	2	2
NDEL1	81565	broad.mit.edu	36	17	8294920	8294920	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8294920C>T	uc002glj.1	+	c.624C>T	c.(622-624)TCC>TCT	p.S208S	NDEL1_uc002gli.1_Silent_p.S208S	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	nudE nuclear distribution gene E homolog (A.	208	Interaction with CENPF.|Interaction with YWHAE (By similarity).|Interaction with NEFL (By similarity).|Interaction with KATNA1 (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle					0														0.492537	204.947511	204.95392	66	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	8294920	8294920	10643	17	C	T	T	23	23	NDEL1	T	1	1
MYH10	4628	broad.mit.edu	36	17	8325425	8325425	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8325425C>T	uc002glm.1	-	c.5204G>A	c.(5203-5205)CGA>CAA	p.R1735Q	MYH10_uc002gll.1_Missense_Mutation_p.R1704Q|MYH10_uc010cnx.1_Missense_Mutation_p.R1713Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1704	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2										971				0.184211	50.312071	64.540641	28	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8325425	8325425	10425	17	C	T	T	31	31	MYH10	T	1	1
MYH10	4628	broad.mit.edu	36	17	8350474	8350474	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8350474G>A	uc002glm.1	-	c.3273C>T	c.(3271-3273)CTC>CTT	p.L1091L	MYH10_uc002gll.1_Silent_p.L1060L|MYH10_uc010cnx.1_Silent_p.L1069L	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1060	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2									p.L1069L(YKG1-Tumor)	971				0.458904	378.511887	378.9414	134	158	GG		KEEP	---	---	---	---	capture			Silent	SNP	8350474	8350474	10425	17	G	A	A	37	37	MYH10	A	1	1
MYH10	4628	broad.mit.edu	36	17	8353890	8353890	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8353890G>T	uc002glm.1	-	c.3055C>A	c.(3055-3057)CTG>ATG	p.L1019M	MYH10_uc002gll.1_Missense_Mutation_p.L988M|MYH10_uc010cnx.1_Missense_Mutation_p.L997M	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	988	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2										971				0.424028	320.724545	322.154952	120	163	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8353890	8353890	10425	17	G	T	T	33	33	MYH10	T	3	3
MYH10	4628	broad.mit.edu	36	17	8413796	8413796	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8413796C>T	uc002glm.1	-	c.723G>A	c.(721-723)GCG>GCA	p.A241A	MYH10_uc002gll.1_Silent_p.A231A|MYH10_uc010cnx.1_Silent_p.A240A|MYH10_uc010cny.1_Non-coding_Transcript	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	231	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2										971				0.181818	44.026616	56.579973	24	108	CC		KEEP	---	---	---	---	capture			Silent	SNP	8413796	8413796	10425	17	C	T	T	31	31	MYH10	T	1	1
ABR	29	broad.mit.edu	36	17	861969	861969	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:861969C>T	uc002fsd.1	-	c.1968G>A	c.(1966-1968)GAG>GAA	p.E656E	ABR_uc002fsg.1_Silent_p.E619E|ABR_uc002fse.1_Silent_p.E610E|ABR_uc002fsh.1_Intron|ABR_uc002fsf.1_Silent_p.E193E	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	656	Rho-GAP.				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				0						Esophageal Squamous(197;2016 2115 4129 29033 46447)								0.267974	102.415779	109.847104	41	112	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	Silent	SNP	861969	861969	100	17	C	T	T	28	28	ABR	T	2	2
PIK3R6	146850	broad.mit.edu	36	17	8672768	8672768	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8672768C>T	uc002glq.1	-	c.1154G>A	c.(1153-1155)GGC>GAC	p.G385D	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	385					platelet activation	cytosol					0														0.655172	55.720304	56.333594	19	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8672768	8672768	12347	17	C	T	T	26	26	PIK3R6	T	2	2
PIK3R5	23533	broad.mit.edu	36	17	8724990	8724990	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8724990A>G	uc002glt.1	-	c.2452T>C	c.(2452-2454)TGC>CGC	p.C818R	PIK3R5_uc002glu.2_Missense_Mutation_p.C432R	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	818					platelet activation	cytosol|membrane|nucleus				large_intestine(1)|central_nervous_system(1)	2						NSCLC(18;589 615 7696 20311 50332)								0.310559	128.196205	133.340116	50	111	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8724990	8724990	12346	17	A	G	G	6	6	PIK3R5	G	4	4
PIK3R5	23533	broad.mit.edu	36	17	8731725	8731725	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8731725C>T	uc002glt.1	-	c.1617G>A	c.(1615-1617)CGG>CGA	p.R539R	PIK3R5_uc002glu.2_Silent_p.R153R	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	539					platelet activation	cytosol|membrane|nucleus				large_intestine(1)|central_nervous_system(1)	2						NSCLC(18;589 615 7696 20311 50332)								0.333333	13.269317	13.638668	5	10	CC		KEEP	---	---	---	---	capture			Silent	SNP	8731725	8731725	12346	17	C	T	T	26	26	PIK3R5	T	2	2
NTN1	9423	broad.mit.edu	36	17	9065210	9065210	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9065210A>G	uc002glw.2	+	c.1412A>G	c.(1411-1413)GAC>GGC	p.D471G		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1	471					apoptosis|axon guidance		protein binding				0														0.388235	507.427325	512.090424	165	260	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9065210	9065210	11105	17	A	G	G	10	10	NTN1	G	4	4
STX8	9482	broad.mit.edu	36	17	9401502	9401502	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9401502C>T	uc002glx.1	-	c.186G>A	c.(184-186)TTG>TTA	p.L62L		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	62	Cytoplasmic (Potential).|Potential.				transport	endoplasmic reticulum|integral to plasma membrane					0														0.403509	121.515583	122.446557	46	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	9401502	9401502	15871	17	C	T	T	25	25	STX8	T	2	2
WDR16	146845	broad.mit.edu	36	17	9438338	9438338	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9438338G>T	uc002gly.1	+	c.511G>T	c.(511-513)GAT>TAT	p.D171Y	WDR16_uc002glz.1_Missense_Mutation_p.D103Y|WDR16_uc010coc.1_Missense_Mutation_p.D181Y	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	171	WD 3.					cytoplasm|intracellular membrane-bounded organelle	protein binding			ovary(1)	1														0.205521	125.228309	151.469424	67	259	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9438338	9438338	17849	17	G	T	T	41	41	WDR16	T	3	3
WDR16	146845	broad.mit.edu	36	17	9444206	9444206	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9444206C>T	uc002gly.1	+	c.734C>T	c.(733-735)GCG>GTG	p.A245V	WDR16_uc002glz.1_Missense_Mutation_p.A177V|WDR16_uc010coc.1_Missense_Mutation_p.A255V	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	245						cytoplasm|intracellular membrane-bounded organelle	protein binding			ovary(1)	1														0.45245	422.367384	423.05631	157	190	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9444206	9444206	17849	17	C	T	T	27	27	WDR16	T	1	1
USP43	124739	broad.mit.edu	36	17	9500444	9500444	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9500444G>A	uc010cod.1	+	c.505_splice	c.e2-1	p.N169_splice	USP43_uc002gma.2_Splice_Site_SNP|USP43_uc010coe.1_5'Flank	NM_153210	NP_694942			ubiquitin specific protease 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|central_nervous_system(1)	2														0.264706	22.557234	24.260456	9	25	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	9500444	9500444	17638	17	G	A	A	33	33	USP43	A	5	2
USP43	124739	broad.mit.edu	36	17	9544289	9544289	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9544289G>A	uc010cod.1	+	c.1533G>A	c.(1531-1533)GAG>GAA	p.E511E	USP43_uc002gma.2_Silent_p.E200E|USP43_uc010coe.1_Silent_p.E308E|USP43_uc002gmc.2_5'Flank	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	511					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|central_nervous_system(1)	2														0.285714	15.441143	16.306621	6	15	GG		KEEP	---	---	---	---	capture			Silent	SNP	9544289	9544289	17638	17	G	A	A	34	34	USP43	A	2	2
DHRS7C	201140	broad.mit.edu	36	17	9616899	9616899	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9616899C>T	uc010cof.1	-	c.637G>A	c.(637-639)GAT>AAT	p.D213N		NM_001105571	NP_001099041			dehydrogenase/reductase (SDR family) member 7C												0														0.197917	36.775542	44.930403	19	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9616899	9616899	4676	17	C	T	T	31	31	DHRS7C	T	1	1
GLP2R	9340	broad.mit.edu	36	17	9677927	9677927	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9677927G>T	uc002gmd.1	+	c.268G>T	c.(268-270)GAA>TAA	p.E90*	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	90	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				ovary(1)	1					Glucagon recombinant(DB00040)									0.283019	68.193955	72.684693	30	76	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	9677927	9677927	6721	17	G	T	T	41	41	GLP2R	T	5	3
APCDD1	147495	broad.mit.edu	36	18	10461676	10461676	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:10461676G>A	uc002kom.2	+	c.392G>A	c.(391-393)CGC>CAC	p.R131H		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	131	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0														0.426966	206.263011	207.091872	76	102	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(15;0.08)	Missense_Mutation	SNP	10461676	10461676	775	18	G	A	A	38	38	APCDD1	A	1	1
NAPG	8774	broad.mit.edu	36	18	10530336	10530336	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:10530336G>A	uc002kon.1	+	c.446G>A	c.(445-447)CGC>CAC	p.R149H	NAPG_uc002koo.1_Missense_Mutation_p.R62H|NAPG_uc002kop.1_Missense_Mutation_p.R62H	NM_003826	NP_003817	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment	149					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0														0.20979	60.967945	72.119315	30	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10530336	10530336	10560	18	G	A	A	38	38	NAPG	A	1	1
FAM38B	63895	broad.mit.edu	36	18	10681252	10681252	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:10681252G>A	uc002koq.1	-	c.546C>T	c.(544-546)TAC>TAT	p.Y182Y		NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	hypothetical protein LOC63895	2327	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1														0.229787	111.511737	127.259445	54	181	GG		KEEP	---	---	---	---	capture			Silent	SNP	10681252	10681252	5776	18	G	A	A	48	48	FAM38B	A	2	2
GNAL	2774	broad.mit.edu	36	18	11862297	11862297	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:11862297C>A	uc002kqc.1	+	c.1062C>A	c.(1060-1062)TTC>TTA	p.F354L	GNAL_uc010dkz.1_Missense_Mutation_p.F277L|GNAL_uc002kqd.1_Missense_Mutation_p.F277L	NM_182978	NP_892023	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	277					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														0.201987	115.282021	140.227727	61	241	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11862297	11862297	6776	18	C	A	A	32	32	GNAL	A	3	3
MPPE1	65258	broad.mit.edu	36	18	11886986	11886986	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:11886986C>T	uc002kqj.1	-	c.278G>A	c.(277-279)CGA>CAA	p.R93Q	MPPE1_uc002kqf.1_Missense_Mutation_p.R93Q|MPPE1_uc002kqn.1_Missense_Mutation_p.R93Q|MPPE1_uc002kqg.1_Non-coding_Transcript|MPPE1_uc002kqh.1_Non-coding_Transcript|MPPE1_uc002kqi.1_Non-coding_Transcript|MPPE1_uc002kqk.1_Missense_Mutation_p.R93Q|MPPE1_uc002kql.1_Missense_Mutation_p.R93Q|MPPE1_uc002kqm.1_Missense_Mutation_p.R93Q|MPPE1_uc010dla.1_Missense_Mutation_p.R93Q	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1 precursor	93					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity				0														0.3	36.602795	38.391524	15	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11886986	11886986	10132	18	C	T	T	31	31	MPPE1	T	1	1
TUBB6	84617	broad.mit.edu	36	18	12315235	12315235	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:12315235G>A	uc002kqw.1	+	c.447G>A	c.(445-447)ACG>ACA	p.T149T	TUBB6_uc002kqv.1_Silent_p.T77T|TUBB6_uc010dld.1_Non-coding_Transcript|TUBB6_uc002kqx.1_Silent_p.T112T|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	149					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0														0.538462	180.062988	180.219488	63	54	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(1;0.0649)	Silent	SNP	12315235	12315235	17315	18	G	A	A	38	38	TUBB6	A	1	1
SLMO1	10650	broad.mit.edu	36	18	12419391	12419391	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:12419391G>A	uc002kra.1	+	c.508G>A	c.(508-510)GCT>ACT	p.A170T	SLMO1_uc002krb.1_Missense_Mutation_p.A170T	NM_006553	NP_006544	Q96N28	SLMO1_HUMAN	slowmo homolog 1 isoform 1	170	PRELI/MSF1.										0														0.217391	40.55249	47.328045	20	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12419391	12419391	15248	18	G	A	A	38	38	SLMO1	A	1	1
SPIRE1	56907	broad.mit.edu	36	18	12536696	12536696	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:12536696G>A	uc002kre.1	-	c.580C>T	c.(580-582)CGG>TGG	p.R194W	SPIRE1_uc002krc.1_Non-coding_Transcript|SPIRE1_uc010dle.1_Missense_Mutation_p.R35W|SPIRE1_uc002krd.1_Missense_Mutation_p.R35W	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	194	KIND.					cytoskeleton|perinuclear region of cytoplasm	actin binding|zinc ion binding				0														0.382716	338.812509	342.723627	124	200	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12536696	12536696	15584	18	G	A	A	37	37	SPIRE1	A	1	1
CEP76	79959	broad.mit.edu	36	18	12668370	12668370	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:12668370C>T	uc002kri.1	-	c.1361G>A	c.(1360-1362)CGA>CAA	p.R454Q	PSMG2_uc002krg.1_Intron|CEP76_uc002krh.2_Missense_Mutation_p.R276Q	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	454					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0														0.275	211.857365	226.451448	88	232	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12668370	12668370	3394	18	C	T	T	31	31	CEP76	T	1	1
PTPN2	5771	broad.mit.edu	36	18	12849190	12849190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:12849190G>A	uc002krp.1	-	c.133C>T	c.(133-135)CGA>TGA	p.R45*	PTPN2_uc002krl.1_Nonsense_Mutation_p.R45*|PTPN2_uc002krm.1_Nonsense_Mutation_p.R45*|PTPN2_uc002krn.1_Nonsense_Mutation_p.R45*|PTPN2_uc002kro.1_Nonsense_Mutation_p.R45*	NM_002828	NP_536347	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type	45	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding				0		Lung NSC(161;8.94e-06)												0.368421	74.976455	76.134338	28	48	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	12849190	12849190	13240	18	G	A	A	37	37	PTPN2	A	5	1
CEP192	55125	broad.mit.edu	36	18	13058096	13058096	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:13058096G>A	uc002krt.1	+	c.2830G>A	c.(2830-2832)GCT>ACT	p.A944T	CEP192_uc002kru.1_Non-coding_Transcript|CEP192_uc002krv.1_5'UTR|CEP192_uc002krw.1_5'Flank|CEP192_uc010dlf.1_Non-coding_Transcript	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1540										ovary(4)|pancreas(1)	5														0.444444	352.054221	352.828579	128	160	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13058096	13058096	3384	18	G	A	A	38	38	CEP192	A	1	1
C18orf1	753	broad.mit.edu	36	18	13635270	13635270	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:13635270G>T	uc002ksa.1	+	c.535G>T	c.(535-537)GAG>TAG	p.E179*	C18orf1_uc002ksb.1_Nonsense_Mutation_p.E161*|C18orf1_uc002kse.1_Nonsense_Mutation_p.E142*|C18orf1_uc002ksf.1_Nonsense_Mutation_p.E124*|C18orf1_uc002ksg.1_Nonsense_Mutation_p.E102*|C18orf1_uc002ksh.1_Nonsense_Mutation_p.E121*|C18orf1_uc002ksi.1_Nonsense_Mutation_p.E103*	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	179	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3														0.184564	90.719003	118.573252	55	243	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(73;0.0642)	Nonsense_Mutation	SNP	13635270	13635270	1955	18	G	T	T	33	33	C18orf1	T	5	3
C18orf1	753	broad.mit.edu	36	18	13635514	13635514	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:13635514G>A	uc002ksa.1	+	c.779G>A	c.(778-780)GGC>GAC	p.G260D	C18orf1_uc002ksb.1_Missense_Mutation_p.G242D|C18orf1_uc002kse.1_Missense_Mutation_p.G223D|C18orf1_uc002ksf.1_Missense_Mutation_p.G205D|C18orf1_uc002ksg.1_Missense_Mutation_p.G183D|C18orf1_uc002ksh.1_Missense_Mutation_p.G202D|C18orf1_uc002ksi.1_Missense_Mutation_p.G184D	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	260	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3														0.153333	33.350254	50.580965	23	127	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(73;0.0642)	Missense_Mutation	SNP	13635514	13635514	1955	18	G	A	A	42	42	C18orf1	A	2	2
MC2R	4158	broad.mit.edu	36	18	13875462	13875462	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:13875462G>A	uc002ksp.1	-	c.56C>T	c.(55-57)TCC>TTC	p.S19F	MC2R_uc010dll.1_Missense_Mutation_p.S19F	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	19	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	adrenocorticotropin receptor activity|protein binding			ovary(4)	4					Corticotropin(DB01285)|Cosyntropin(DB01284)	Colon(141;1584 1782 35999 48227 48692)								0.384615	126.443998	127.810688	45	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13875462	13875462	9753	18	G	A	A	41	41	MC2R	A	2	2
ZNF519	162655	broad.mit.edu	36	18	14096233	14096233	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:14096233G>A	uc002kst.1	-	c.306C>T	c.(304-306)AGC>AGT	p.S102S	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.165919	65.228253	88.845992	37	186	GG		KEEP	---	---	---	---	capture			Silent	SNP	14096233	14096233	18558	18	G	A	A	42	42	ZNF519	A	2	2
ROCK1	6093	broad.mit.edu	36	18	16802747	16802747	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:16802747C>T	uc002kte.1	-	c.2987G>A	c.(2986-2988)CGA>CAA	p.R996Q		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	996					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|protein phosphorylation|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)									408				0.455285	319.845554	320.276367	112	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16802747	16802747	13996	18	C	T	T	31	31	ROCK1	T	1	1
ESCO1	114799	broad.mit.edu	36	18	17364373	17364373	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:17364373A>C	uc002kth.1	-	c.2452T>G	c.(2452-2454)TTT>GTT	p.F818V	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	818					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0														0.213235	148.237054	168.873953	58	214	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17364373	17364373	5441	18	A	C	C	2	2	ESCO1	C	4	4
ESCO1	114799	broad.mit.edu	36	18	17407548	17407548	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:17407548G>A	uc002kth.1	-	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	419					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0														0.395105	309.218432	311.970136	113	173	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	17407548	17407548	5441	18	G	A	A	40	40	ESCO1	A	5	1
SNRPD1	6632	broad.mit.edu	36	18	17457811	17457811	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:17457811C>T	uc002ktj.1	+	c.196C>T	c.(196-198)CGG>TGG	p.R66W		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	66					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0														0.40146	150.511945	151.669915	55	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17457811	17457811	15364	18	C	T	T	31	31	SNRPD1	T	1	1
MIB1	57534	broad.mit.edu	36	18	17649680	17649680	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:17649680C>T	uc002ktq.1	+	c.1585C>T	c.(1585-1587)CGC>TGC	p.R529C	MIB1_uc002ktp.1_Missense_Mutation_p.R168C	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	529	ANK 4.				Notch signaling pathway	nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4														0.454082	244.338525	244.699534	89	107	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.212)		Missense_Mutation	SNP	17649680	17649680	9956	18	C	T	T	27	27	MIB1	T	1	1
RBBP8	5932	broad.mit.edu	36	18	18827548	18827548	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:18827548C>A	uc002kua.1	+	c.1760C>A	c.(1759-1761)CCT>CAT	p.P587H	RBBP8_uc002ktw.1_Missense_Mutation_p.P587H|RBBP8_uc002ktx.1_Missense_Mutation_p.P587H|RBBP8_uc002kty.1_Missense_Mutation_p.P587H|RBBP8_uc002ktz.1_Missense_Mutation_p.P587H	NM_203291	NP_976036	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	587					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|skin(1)	2	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)									470				0.44375	198.192153	198.634935	71	89	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		Missense_Mutation	SNP	18827548	18827548	13566	18	C	A	A	24	24	RBBP8	A	3	3
RBBP8	5932	broad.mit.edu	36	18	18831586	18831586	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:18831586C>A	uc002kua.1	+	c.2034C>A	c.(2032-2034)GGC>GGA	p.G678G	RBBP8_uc002ktw.1_Silent_p.G678G|RBBP8_uc002kty.1_Silent_p.G678G|RBBP8_uc002ktz.1_Silent_p.G678G	NM_203291	NP_976036	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	678					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|skin(1)	2	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)									470				0.454545	59.293919	59.373232	20	24	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		Silent	SNP	18831586	18831586	13566	18	C	A	A	25	25	RBBP8	A	3	3
RBBP8	5932	broad.mit.edu	36	18	18840324	18840324	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:18840324C>T	uc002kua.1	+	c.2303C>T	c.(2302-2304)ACT>ATT	p.T768I	RBBP8_uc002ktw.1_Missense_Mutation_p.T763I|RBBP8_uc002kty.1_Missense_Mutation_p.T763I|RBBP8_uc002ktz.1_Missense_Mutation_p.T763I	NM_203291	NP_976036	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	763					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|skin(1)	2	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)									470				0.186275	35.770891	45.175493	19	83	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		Missense_Mutation	SNP	18840324	18840324	13566	18	C	T	T	28	28	RBBP8	T	2	2
USP14	9097	broad.mit.edu	36	18	189242	189242	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:189242G>T	uc002kkf.1	+	c.802G>T	c.(802-804)GGA>TGA	p.G268*	USP14_uc002kkg.1_Nonsense_Mutation_p.G233*	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	268					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)												0.355263	70.496795	71.902557	27	49	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	189242	189242	17607	18	G	T	T	35	35	USP14	T	5	3
CABLES1	91768	broad.mit.edu	36	18	19068622	19068622	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19068622G>T	uc002kuc.2	+	c.1141G>T	c.(1141-1143)GAG>TAG	p.E381*	CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Nonsense_Mutation_p.E116*	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	381	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding				0	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)													0.151899	16.643978	25.816789	12	67	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19068622	19068622	2645	18	G	T	T	33	33	CABLES1	T	5	3
CABLES1	91768	broad.mit.edu	36	18	19091266	19091266	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19091266C>T	uc002kuc.2	+	c.1839C>T	c.(1837-1839)TTC>TTT	p.F613F	CABLES1_uc002kub.2_Silent_p.F116F|CABLES1_uc002kud.2_Silent_p.F348F	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	613					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding				0	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)													0.460123	207.38623	207.612954	75	88	CC		KEEP	---	---	---	---	capture			Silent	SNP	19091266	19091266	2645	18	C	T	T	31	31	CABLES1	T	1	1
C18orf45	85019	broad.mit.edu	36	18	19132014	19132014	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19132014C>T	uc002kuf.1	-	c.846G>A	c.(844-846)GCG>GCA	p.A282A	C18orf45_uc002kue.1_Non-coding_Transcript|C18orf45_uc002kug.1_Non-coding_Transcript|C18orf45_uc002kuh.1_Non-coding_Transcript	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	hypothetical protein LOC85019	282	Helical; (Potential).					integral to membrane					0	all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127)													0.193548	63.05656	79.322635	36	150	CC		KEEP	---	---	---	---	capture			Silent	SNP	19132014	19132014	1964	18	C	T	T	27	27	C18orf45	T	1	1
USP14	9097	broad.mit.edu	36	18	192881	192881	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:192881G>A	uc002kkf.1	+	c.878G>A	c.(877-879)CGA>CAA	p.R293Q	USP14_uc002kkg.1_Missense_Mutation_p.R258Q	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	293					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)												0.203252	51.008515	61.065075	25	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	192881	192881	17607	18	G	A	A	37	37	USP14	A	1	1
C18orf8	29919	broad.mit.edu	36	18	19349861	19349861	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19349861A>C	uc010dlt.1	+	c.452A>C	c.(451-453)AAT>ACT	p.N151T	C18orf8_uc002kul.1_Non-coding_Transcript	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	151										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.446254	462.658662	463.427602	137	170	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19349861	19349861	1969	18	A	C	C	4	4	C18orf8	C	4	4
C18orf8	29919	broad.mit.edu	36	18	19364455	19364455	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19364455C>A	uc010dlt.1	+	c.1775C>A	c.(1774-1776)TCT>TAT	p.S592Y	C18orf8_uc002kul.1_Non-coding_Transcript|NPC1_uc010dlu.1_Intron	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	592	Mic1.									ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)													0.434783	131.719501	132.147908	50	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19364455	19364455	1969	18	C	A	A	32	32	C18orf8	A	3	3
NPC1	4864	broad.mit.edu	36	18	19375297	19375297	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19375297G>T	uc002kum.2	-	c.2344C>A	c.(2344-2346)CTC>ATC	p.L782I		NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	782	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)													0.424893	259.059382	260.210927	99	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19375297	19375297	10974	18	G	T	T	33	33	NPC1	T	3	3
LAMA3	3909	broad.mit.edu	36	18	19587682	19587682	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19587682G>T	uc002kuq.1	+	c.856_splice	c.e6-1	p.Y286_splice	LAMA3_uc010dlv.1_Splice_Site_SNP_p.Y286_splice|LAMA3_uc002kur.1_Splice_Site_SNP_p.Y286_splice	NM_198129	NP_937762			laminin alpha 3 subunit isoform 1						cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.211864	52.702528	61.76681	25	93	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	19587682	19587682	8930	18	G	T	T	36	36	LAMA3	T	5	3
LAMA3	3909	broad.mit.edu	36	18	19673843	19673843	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19673843G>A	uc002kuq.1	+	c.3288G>A	c.(3286-3288)TCG>TCA	p.S1096S	LAMA3_uc002kur.1_Silent_p.S1096S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1096	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.431718	261.897782	262.822839	98	129	GG		KEEP	---	---	---	---	capture			Silent	SNP	19673843	19673843	8930	18	G	A	A	40	40	LAMA3	A	1	1
LAMA3	3909	broad.mit.edu	36	18	19691841	19691841	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19691841G>A	uc002kuq.1	+	c.4172G>A	c.(4171-4173)CGA>CAA	p.R1391Q	LAMA3_uc002kur.1_Missense_Mutation_p.R1391Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1391	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.227147	177.360041	202.0351	82	279	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19691841	19691841	8930	18	G	A	A	37	37	LAMA3	A	1	1
LAMA3	3909	broad.mit.edu	36	18	19741771	19741771	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19741771G>A	uc002kuq.1	+	c.6889G>A	c.(6889-6891)GAC>AAC	p.D2297N	LAMA3_uc002kur.1_Missense_Mutation_p.D2241N|LAMA3_uc002kus.2_Missense_Mutation_p.D688N|LAMA3_uc002kut.2_Missense_Mutation_p.D632N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2297	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.488189	355.695836	355.729146	124	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19741771	19741771	8930	18	G	A	A	37	37	LAMA3	A	1	1
LAMA3	3909	broad.mit.edu	36	18	19788571	19788571	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19788571C>T	uc002kuq.1	+	c.9963C>T	c.(9961-9963)GTC>GTT	p.V3321V	LAMA3_uc002kur.1_Silent_p.V3265V|LAMA3_uc002kus.2_Silent_p.V1712V|LAMA3_uc002kut.2_Silent_p.V1656V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	3321	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.201183	69.142043	83.185644	34	135	CC		KEEP	---	---	---	---	capture			Silent	SNP	19788571	19788571	8930	18	C	T	T	30	30	LAMA3	T	2	2
TTC39C	125488	broad.mit.edu	36	18	19948579	19948579	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19948579G>A	uc002kuw.1	+	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	TTC39C_uc002kuu.1_Missense_Mutation_p.E289K	NM_153211	NP_694943	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C isoform 2	350							binding			ovary(1)	1														0.406667	176.440585	177.583966	61	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19948579	19948579	17264	18	G	A	A	33	33	TTC39C	A	2	2
OSBPL1A	114876	broad.mit.edu	36	18	20200889	20200889	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:20200889T>C	uc002kve.1	-	c.247A>G	c.(247-249)ACG>GCG	p.T83A		NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	83	ANK 2.				cholesterol metabolic process|lipid transport|vesicle-mediated transport	intracellular	phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)													0.234043	105.323387	117.479685	44	144	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20200889	20200889	11688	18	T	C	C	59	59	OSBPL1A	C	4	4
HRH4	59340	broad.mit.edu	36	18	20302791	20302791	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:20302791G>A	uc002kvi.1	+	c.235G>A	c.(235-237)GAA>AAA	p.E79K	HRH4_uc010dlx.1_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	79	Extracellular (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)									0.419355	257.280302	258.513422	91	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20302791	20302791	7650	18	G	A	A	37	37	HRH4	A	1	1
ZNF521	25925	broad.mit.edu	36	18	21059421	21059421	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:21059421G>A	uc002kvk.1	-	c.2459C>T	c.(2458-2460)GCG>GTG	p.A820V	ZNF521_uc010dly.1_Missense_Mutation_p.A820V|ZNF521_uc002kvl.1_Missense_Mutation_p.A600V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	820	C2H2-type 20.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.223844	194.578325	223.403518	92	319	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21059421	21059421	18559	18	G	A	A	38	38	ZNF521	A	1	1
ZNF521	25925	broad.mit.edu	36	18	21059509	21059509	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:21059509A>G	uc002kvk.1	-	c.2371T>C	c.(2371-2373)TCC>CCC	p.S791P	ZNF521_uc010dly.1_Missense_Mutation_p.S791P|ZNF521_uc002kvl.1_Missense_Mutation_p.S571P	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	791	C2H2-type 19.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.25	190.768019	206.431224	69	207	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21059509	21059509	18559	18	A	G	G	10	10	ZNF521	G	4	4
ZNF521	25925	broad.mit.edu	36	18	21059717	21059717	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:21059717G>T	uc002kvk.1	-	c.2163C>A	c.(2161-2163)TTC>TTA	p.F721L	ZNF521_uc010dly.1_Missense_Mutation_p.F721L|ZNF521_uc002kvl.1_Missense_Mutation_p.F501L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	721					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.188679	70.255282	89.507709	40	172	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21059717	21059717	18559	18	G	T	T	33	33	ZNF521	T	3	3
ZNF521	25925	broad.mit.edu	36	18	21060177	21060177	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:21060177G>A	uc002kvk.1	-	c.1703C>T	c.(1702-1704)TCG>TTG	p.S568L	ZNF521_uc010dly.1_Missense_Mutation_p.S568L|ZNF521_uc002kvl.1_Missense_Mutation_p.S348L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	568	C2H2-type 13; atypical.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.190698	78.54723	97.779582	41	174	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21060177	21060177	18559	18	G	A	A	37	37	ZNF521	A	1	1
ZNF521	25925	broad.mit.edu	36	18	21061216	21061216	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:21061216G>A	uc002kvk.1	-	c.664C>T	c.(664-666)CAG>TAG	p.Q222*	ZNF521_uc010dly.1_Nonsense_Mutation_p.Q222*|ZNF521_uc002kvl.1_Nonsense_Mutation_p.Q2*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	222	C2H2-type 5.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.393443	125.995407	127.199926	48	74	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	21061216	21061216	18559	18	G	A	A	46	46	ZNF521	A	5	2
TAF4B	6875	broad.mit.edu	36	18	22061164	22061164	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:22061164C>A	uc002kvt.2	+	c.269C>A	c.(268-270)GCT>GAT	p.A90D	TAF4B_uc002kvu.2_Missense_Mutation_p.A90D|TAF4B_uc002kvs.2_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	90					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity|transcription initiation factor activity			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)													0.19209	59.613428	75.350338	34	143	CC		KEEP	---	---	---	---	capture	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		Missense_Mutation	SNP	22061164	22061164	16048	18	C	A	A	28	28	TAF4B	A	3	3
TAF4B	6875	broad.mit.edu	36	18	22223951	22223951	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:22223951C>T	uc002kvt.2	+	c.2581C>T	c.(2581-2583)CTA>TTA	p.L861L	TAF4B_uc002kvu.2_Silent_p.L856L|TAF4B_uc002kvs.2_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	856	Required for interaction with TAF12.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity|transcription initiation factor activity			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)													0.202532	102.948775	122.447761	48	189	CC		KEEP	---	---	---	---	capture	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		Silent	SNP	22223951	22223951	16048	18	C	T	T	32	32	TAF4B	T	2	2
AQP4	361	broad.mit.edu	36	18	22695183	22695183	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:22695183G>T	uc002kwa.1	-	c.522C>A	c.(520-522)ATC>ATA	p.I174I	AQP4_uc002kvz.1_Silent_p.I152I	NM_001650	NP_001641	P55087	AQP4_HUMAN	aquaporin 4 isoform a	174	Helical; (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)													0.510791	193.976456	193.989377	71	68	GG		KEEP	---	---	---	---	capture			Silent	SNP	22695183	22695183	839	18	G	T	T	33	33	AQP4	T	3	3
CHST9	83539	broad.mit.edu	36	18	22750738	22750738	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:22750738G>T	uc002kwd.1	-	c.815C>A	c.(814-816)ACT>AAT	p.T272N	CHST9_uc002kwc.1_Missense_Mutation_p.T187N|CHST9_uc002kwe.1_Missense_Mutation_p.T272N|C18orf16_uc002kwb.1_Intron	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	272	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)	2	all_lung(6;0.0145)|Ovarian(20;0.124)													0.189504	141.663549	172.601532	65	278	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22750738	22750738	3545	18	G	T	T	36	36	CHST9	T	3	3
METTL4	64863	broad.mit.edu	36	18	2557000	2557000	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:2557000C>A	uc002klh.2	-	c.216G>T	c.(214-216)GAG>GAT	p.E72D		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	72					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2														0.2375	79.653954	89.742201	38	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2557000	2557000	9892	18	C	A	A	32	32	METTL4	A	3	3
DSC3	1825	broad.mit.edu	36	18	26842435	26842435	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:26842435C>A	uc002kwj.2	-	c.1318G>T	c.(1318-1320)GAA>TAA	p.E440*	DSC3_uc002kwi.2_Nonsense_Mutation_p.E440*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	440	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)	2														0.202166	107.72304	130.573199	56	221	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.125)		Nonsense_Mutation	SNP	26842435	26842435	4951	18	C	A	A	29	29	DSC3	A	5	3
DSC1	1823	broad.mit.edu	36	18	26967940	26967940	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:26967940C>A	uc002kwn.1	-	c.2028G>T	c.(2026-2028)AAG>AAT	p.K676N	DSC1_uc002kwm.1_Missense_Mutation_p.K676N	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	676	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)	3														0.166102	82.876389	114.088567	49	246	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		Missense_Mutation	SNP	26967940	26967940	4949	18	C	A	A	24	24	DSC1	A	3	3
DSC1	1823	broad.mit.edu	36	18	26974207	26974207	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:26974207T>G	uc002kwn.1	-	c.1316A>C	c.(1315-1317)GAG>GCG	p.E439A	DSC1_uc002kwm.1_Missense_Mutation_p.E439A	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	439	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)	3														0.195745	106.420382	126.693715	46	189	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		Missense_Mutation	SNP	26974207	26974207	4949	18	T	G	G	54	54	DSC1	G	4	4
DSC1	1823	broad.mit.edu	36	18	26979738	26979738	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:26979738C>A	uc002kwn.1	-	c.773G>T	c.(772-774)GGA>GTA	p.G258V	DSC1_uc002kwm.1_Missense_Mutation_p.G258V	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	258	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)	3														0.21	82.831293	98.406859	42	158	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		Missense_Mutation	SNP	26979738	26979738	4949	18	C	A	A	30	30	DSC1	A	3	3
DSG1	1828	broad.mit.edu	36	18	27188636	27188636	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27188636C>A	uc002kwp.1	+	c.2479C>A	c.(2479-2481)CTC>ATC	p.L827I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	827	Desmoglein repeat 1.|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			ovary(2)|central_nervous_system(2)	4														0.404018	475.43786	479.058351	181	267	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		Missense_Mutation	SNP	27188636	27188636	4960	18	C	A	A	32	32	DSG1	A	3	3
DSG4	147409	broad.mit.edu	36	18	27222331	27222331	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27222331C>T	uc002kwr.1	+	c.220C>T	c.(220-222)CGA>TGA	p.R74*	DSG4_uc002kwq.1_Nonsense_Mutation_p.R74*	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2	74	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8														0.285714	69.955284	73.996314	28	70	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Nonsense_Mutation	SNP	27222331	27222331	4963	18	C	T	T	31	31	DSG4	T	5	1
DSG4	147409	broad.mit.edu	36	18	27240119	27240119	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27240119A>G	uc002kwr.1	+	c.1718A>G	c.(1717-1719)AAC>AGC	p.N573S	DSG4_uc002kwq.1_Missense_Mutation_p.N573S	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2	573	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8														0.176101	66.009129	81.725509	28	131	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Missense_Mutation	SNP	27240119	27240119	4963	18	A	G	G	2	2	DSG4	G	4	4
DSG4	147409	broad.mit.edu	36	18	27240212	27240212	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27240212A>G	uc002kwr.1	+	c.1811A>G	c.(1810-1812)TAC>TGC	p.Y604C	DSG4_uc002kwq.1_Missense_Mutation_p.Y604C	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2	604	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8														0.265306	148.830709	158.574903	52	144	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Missense_Mutation	SNP	27240212	27240212	4963	18	A	G	G	14	14	DSG4	G	4	4
DSG4	147409	broad.mit.edu	36	18	27240283	27240283	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27240283C>A	uc002kwr.1	+	c.1882C>A	c.(1882-1884)CTT>ATT	p.L628I	DSG4_uc002kwq.1_Missense_Mutation_p.L628I	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2	628	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8														0.438406	323.193436	324.112323	121	155	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Missense_Mutation	SNP	27240283	27240283	4963	18	C	A	A	32	32	DSG4	A	3	3
DSG3	1830	broad.mit.edu	36	18	27291072	27291072	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27291072A>G	uc002kws.1	+	c.203A>G	c.(202-204)AAC>AGC	p.N68S		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	68	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.206704	91.287682	105.550142	37	142	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Missense_Mutation	SNP	27291072	27291072	4962	18	A	G	G	2	2	DSG3	G	4	4
DSG2	1829	broad.mit.edu	36	18	27380550	27380550	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27380550C>A	uc002kwu.2	+	c.3203C>A	c.(3202-3204)TCT>TAT	p.S1068Y		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	1068	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)	8														0.225	128.250936	147.732498	63	217	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		Missense_Mutation	SNP	27380550	27380550	4961	18	C	A	A	32	32	DSG2	A	3	3
B4GALT6	9331	broad.mit.edu	36	18	27461064	27461064	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27461064A>C	uc002kwz.2	-	c.795T>G	c.(793-795)TTT>TTG	p.F265L	B4GALT6_uc002kwy.2_5'Flank|B4GALT6_uc010dma.1_Missense_Mutation_p.F226L|B4GALT6_uc010dmb.1_Missense_Mutation_p.F226L	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	265	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0														0.434286	255.984049	256.641075	76	99	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		Missense_Mutation	SNP	27461064	27461064	1296	18	A	C	C	1	1	B4GALT6	C	4	4
SMCHD1	23347	broad.mit.edu	36	18	2774496	2774496	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:2774496C>T	uc002klm.2	+	c.5596C>T	c.(5596-5598)CGA>TGA	p.R1866*	SMCHD1_uc002klk.2_Non-coding_Transcript|SMCHD1_uc002kll.2_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1866					chromosome organization		ATP binding				0														0.363636	32.189341	32.729876	12	21	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	2774496	2774496	15286	18	C	T	T	31	31	SMCHD1	T	5	1
RNF138	51444	broad.mit.edu	36	18	27960653	27960653	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27960653G>A	uc002kxg.1	+	c.562_splice	c.e7-1	p.T188_splice	RNF138_uc002kxh.1_Splice_Site_SNP_p.T94_splice	NM_016271	NP_057355			ring finger protein 138 isoform 1						Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding				0														0.425234	277.472532	278.519191	91	123	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	27960653	27960653	13918	18	G	A	A	33	33	RNF138	A	5	2
FAM59A	64762	broad.mit.edu	36	18	28102367	28102367	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:28102367G>A	uc002kxl.1	-	c.2096C>T	c.(2095-2097)GCC>GTC	p.A699V	FAM59A_uc002kxk.1_Missense_Mutation_p.A698V	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	hypothetical protein LOC64762	699										ovary(1)	1														0.433071	301.596969	302.589688	110	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28102367	28102367	5814	18	G	A	A	42	42	FAM59A	A	2	2
FAM59A	64762	broad.mit.edu	36	18	28102555	28102555	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:28102555G>A	uc002kxl.1	-	c.1908C>T	c.(1906-1908)AGC>AGT	p.S636S	FAM59A_uc002kxk.1_Silent_p.S635S	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	hypothetical protein LOC64762	636										ovary(1)	1														0.376	126.314015	127.993018	47	78	GG		KEEP	---	---	---	---	capture			Silent	SNP	28102555	28102555	5814	18	G	A	A	42	42	FAM59A	A	2	2
FAM59A	64762	broad.mit.edu	36	18	28121555	28121555	+	Missense_Mutation	SNP	C	T	T	rs34217832	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:28121555C>T	uc002kxl.1	-	c.1003G>A	c.(1003-1005)GAC>AAC	p.D335N	FAM59A_uc002kxk.1_Missense_Mutation_p.D335N	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	hypothetical protein LOC64762	335										ovary(1)	1														0.141361	35.886294	59.518392	27	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28121555	28121555	5814	18	C	T	T	31	31	FAM59A	T	1	1
FAM59A	64762	broad.mit.edu	36	18	28121861	28121861	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:28121861C>T	uc002kxl.1	-	c.697G>A	c.(697-699)GAA>AAA	p.E233K	FAM59A_uc002kxk.1_Missense_Mutation_p.E233K	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	hypothetical protein LOC64762	233	CABIT.									ovary(1)	1														0.150235	44.522873	69.619776	32	181	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28121861	28121861	5814	18	C	T	T	31	31	FAM59A	T	1	1
EMILIN2	84034	broad.mit.edu	36	18	2903303	2903303	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:2903303C>T	uc002kln.1	+	c.3063C>T	c.(3061-3063)AAC>AAT	p.N1021N		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	1021	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			ovary(1)	1														0.5	164.665729	164.665729	59	59	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.1)	Silent	SNP	2903303	2903303	5286	18	C	T	T	19	19	EMILIN2	T	1	1
C18orf34	374864	broad.mit.edu	36	18	29079368	29079368	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:29079368C>T	uc002kxn.2	-	c.1432G>A	c.(1432-1434)GAA>AAA	p.E478K	C18orf34_uc010dme.1_5'UTR|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E478K|C18orf34_uc002kxp.2_Missense_Mutation_p.E478K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	478										ovary(1)	1														0.387755	51.314203	51.854816	19	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29079368	29079368	1963	18	C	T	T	31	31	C18orf34	T	1	1
C18orf34	374864	broad.mit.edu	36	18	29127174	29127174	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:29127174C>T	uc002kxn.2	-	c.1123G>A	c.(1123-1125)GCA>ACA	p.A375T	C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.A375T|C18orf34_uc002kxp.2_Missense_Mutation_p.A375T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	375	Potential.									ovary(1)	1														0.304054	117.212712	122.287155	45	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29127174	29127174	1963	18	C	T	T	28	28	C18orf34	T	2	2
C18orf34	374864	broad.mit.edu	36	18	29157500	29157500	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:29157500C>A	uc002kxn.2	-	c.975G>T	c.(973-975)GAG>GAT	p.E325D	C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E325D|C18orf34_uc002kxp.2_Missense_Mutation_p.E325D	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	325	Potential.									ovary(1)	1														0.195402	31.423843	38.953005	17	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29157500	29157500	1963	18	C	A	A	32	32	C18orf34	A	3	3
C18orf34	374864	broad.mit.edu	36	18	29167241	29167241	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:29167241C>A	uc002kxn.2	-	c.774G>T	c.(772-774)AAG>AAT	p.K258N	C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.K258N|C18orf34_uc002kxp.2_Missense_Mutation_p.K258N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	258	Potential.									ovary(1)	1														0.410569	266.502297	268.227219	101	145	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29167241	29167241	1963	18	C	A	A	32	32	C18orf34	A	3	3
LPIN2	9663	broad.mit.edu	36	18	2924427	2924427	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:2924427T>C	uc002klo.1	-	c.1190A>G	c.(1189-1191)CAC>CGC	p.H397R		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	397					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2														0.377483	162.640501	164.62828	57	94	TT		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	Missense_Mutation	SNP	2924427	2924427	9292	18	T	C	C	59	59	LPIN2	C	4	4
ASXL3	80816	broad.mit.edu	36	18	29578560	29578560	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:29578560C>T	uc010dmg.1	+	c.4750C>T	c.(4750-4752)CGT>TGT	p.R1584C	ASXL3_uc002kxq.2_Missense_Mutation_p.R1291C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3												OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.394737	40.419125	40.786722	15	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29578560	29578560	1087	18	C	T	T	19	19	ASXL3	T	1	1
NOL4	8715	broad.mit.edu	36	18	29686856	29686856	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:29686856A>C	uc010dmi.1	-	c.1865T>G	c.(1864-1866)TTT>TGT	p.F622C	NOL4_uc002kxr.2_Missense_Mutation_p.F394C|NOL4_uc010dmh.1_Missense_Mutation_p.F484C|NOL4_uc002kxt.2_Missense_Mutation_p.F520C	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	622						nucleolus	RNA binding			ovary(3)	3														0.45	213.640603	213.940048	63	77	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29686856	29686856	10927	18	A	C	C	1	1	NOL4	C	4	4
NOL4	8715	broad.mit.edu	36	18	30057051	30057051	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:30057051G>A	uc010dmi.1	-	c.165C>T	c.(163-165)TTC>TTT	p.F55F	NOL4_uc002kxr.2_5'Flank|NOL4_uc010dmh.1_5'Flank|NOL4_uc002kxt.2_Silent_p.F55F	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	55						nucleolus	RNA binding			ovary(3)	3														0.181818	67.034208	84.825605	34	153	GG		KEEP	---	---	---	---	capture			Silent	SNP	30057051	30057051	10927	18	G	A	A	33	33	NOL4	A	2	2
ZNF397	84307	broad.mit.edu	36	18	31079244	31079244	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:31079244G>T	uc002kyj.1	+	c.577G>T	c.(577-579)GCA>TCA	p.A193S	ZNF397_uc010dmp.1_Missense_Mutation_p.A193S|ZNF397_uc010dmq.1_Intron|ZNF397_uc010dmr.1_Non-coding_Transcript	NM_032347	NP_115723	Q8NF99	ZN397_HUMAN	zinc finger protein 397 isoform 2	193					regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.170732	11.996541	16.203913	7	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31079244	31079244	18476	18	G	T	T	34	34	ZNF397	T	3	3
ZNF396	252884	broad.mit.edu	36	18	31202389	31202389	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:31202389G>A	uc002kyv.1	-	c.926C>T	c.(925-927)GCG>GTG	p.A309V		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	Error:Variant_position_missing_in_Q96N95_after_alignment					regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.226415	127.548411	145.773678	60	205	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31202389	31202389	18475	18	G	A	A	38	38	ZNF396	A	1	1
INO80C	125476	broad.mit.edu	36	18	31314499	31314499	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:31314499C>A	uc010dmt.1	-	c.291G>T	c.(289-291)GAG>GAT	p.E97D	INO80C_uc002kyw.1_Missense_Mutation_p.E61D|INO80C_uc002kyx.2_Missense_Mutation_p.E6D|INO80C_uc002kyy.2_Missense_Mutation_p.E61D	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 1	61						MLL1 complex					0														0.446701	239.361763	239.850659	88	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31314499	31314499	8049	18	C	A	A	32	32	INO80C	A	3	3
GALNT1	2589	broad.mit.edu	36	18	31497628	31497628	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:31497628G>T	uc010dmu.1	+	c.178G>T	c.(178-180)GAA>TAA	p.E60*	GALNT1_uc002kyz.2_5'UTR|GALNT1_uc002kza.1_Nonsense_Mutation_p.E60*|GALNT1_uc002kzb.1_Nonsense_Mutation_p.E60*	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	60	Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2														0.2	54.980762	67.130988	29	116	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	31497628	31497628	6471	18	G	T	T	33	33	GALNT1	T	5	3
GALNT1	2589	broad.mit.edu	36	18	31517375	31517375	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:31517375G>T	uc010dmu.1	+	c.504G>T	c.(502-504)GAG>GAT	p.E168D	GALNT1_uc002kyz.2_Missense_Mutation_p.E108D|GALNT1_uc002kzb.1_Missense_Mutation_p.E168D	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	168	Lumenal (Potential).|Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2														0.402778	76.35246	76.949655	29	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31517375	31517375	6471	18	G	T	T	33	33	GALNT1	T	3	3
GALNT1	2589	broad.mit.edu	36	18	31525149	31525149	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:31525149C>T	uc010dmu.1	+	c.1154C>T	c.(1153-1155)TCT>TTT	p.S385F	GALNT1_uc002kyz.2_Missense_Mutation_p.S325F|GALNT1_uc002kzb.1_Missense_Mutation_p.S385F	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	385	Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2														0.397436	185.806287	187.245347	62	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31525149	31525149	6471	18	C	T	T	32	32	GALNT1	T	2	2
MYOM1	8736	broad.mit.edu	36	18	3179048	3179048	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:3179048C>A	uc002klp.1	-	c.469G>T	c.(469-471)GAA>TAA	p.E157*	MYOM1_uc002klq.1_Nonsense_Mutation_p.E157*	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	157						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.21466	82.557261	96.92875	41	150	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	3179048	3179048	10486	18	C	A	A	32	32	MYOM1	A	5	3
RPRD1A	55197	broad.mit.edu	36	18	31827219	31827219	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:31827219C>A	uc002kzf.1	-	c.832G>T	c.(832-834)GAA>TAA	p.E278*	RPRD1A_uc002kze.1_Nonsense_Mutation_p.E242*|RPRD1A_uc002kzg.1_Nonsense_Mutation_p.E278*|RPRD1A_uc010dmw.1_Nonsense_Mutation_p.E242*	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	278	Potential.									ovary(1)|breast(1)	2														0.5	160.934562	160.934562	58	58	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	31827219	31827219	14094	18	C	A	A	32	32	RPRD1A	A	5	3
MOCOS	55034	broad.mit.edu	36	18	32033895	32033895	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:32033895G>A	uc002kzq.2	+	c.551G>A	c.(550-552)AGT>AAT	p.S184N		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	184					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)									0.357798	101.095933	103.03519	39	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32033895	32033895	10080	18	G	A	A	36	36	MOCOS	A	2	2
MOCOS	55034	broad.mit.edu	36	18	32034265	32034265	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:32034265G>A	uc002kzq.2	+	c.921G>A	c.(919-921)CCG>CCA	p.P307P		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	307					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)									0.465517	152.94604	153.064768	54	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	32034265	32034265	10080	18	G	A	A	37	37	MOCOS	A	1	1
FHOD3	80206	broad.mit.edu	36	18	32589079	32589079	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:32589079G>T	uc002kzs.1	+	c.3708_splice	c.e22-1	p.R1236_splice	FHOD3_uc002kzt.1_Splice_Site_SNP_p.R1219_splice|FHOD3_uc010dmz.1_Splice_Site_SNP_p.R951_splice|FHOD3_uc010dnb.1_Splice_Site_SNP_p.R215_splice	NM_025135	NP_079411			formin homology 2 domain containing 3						actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.178947	29.009234	38.233824	17	78	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	32589079	32589079	6121	18	G	T	T	33	33	FHOD3	T	5	3
KIAA1328	57536	broad.mit.edu	36	18	33056028	33056028	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:33056028C>T	uc002kzz.1	+	c.1574C>T	c.(1573-1575)GCG>GTG	p.A525V	KIAA1328_uc002lab.1_3'UTR|KIAA1328_uc002lac.1_Missense_Mutation_p.A384V|KIAA1328_uc010dnc.1_Non-coding_Transcript	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	525										central_nervous_system(1)	1														0.223684	36.333689	41.670242	17	59	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(74;0.195)	Missense_Mutation	SNP	33056028	33056028	8534	18	C	T	T	27	27	KIAA1328	T	1	1
PIK3C3	5289	broad.mit.edu	36	18	37791585	37791585	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:37791585G>T	uc002lap.1	+	c.121G>T	c.(121-123)GAC>TAC	p.D41Y	PIK3C3_uc002lao.2_Missense_Mutation_p.D41Y	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	phosphoinositide-3-kinase, class 3	41					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(7)|ovary(1)	8						NSCLC(37;552 1060 2683 16430 37914)				441	TSP Lung(28;0.18)			0.1875	43.113867	54.83106	24	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37791585	37791585	12336	18	G	T	T	33	33	PIK3C3	T	3	3
DLGAP1	9229	broad.mit.edu	36	18	3804224	3804224	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:3804224T>C	uc002kmf.1	-	c.1007A>G	c.(1006-1008)GAA>GGA	p.E336G	DLGAP1_uc002kme.1_Missense_Mutation_p.E34G|DLGAP1_uc002kmg.2_Missense_Mutation_p.E34G|DLGAP1_uc010dkn.1_Missense_Mutation_p.E34G|DLGAP1_uc002kmk.1_Missense_Mutation_p.E336G	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	336					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)												0.196078	154.667205	180.974411	60	246	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3804224	3804224	4739	18	T	C	C	62	62	DLGAP1	C	4	4
DLGAP1	9229	broad.mit.edu	36	18	3870062	3870062	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:3870062C>A	uc002kmf.1	-	c.7G>T	c.(7-9)GGG>TGG	p.G3W	DLGAP1_uc002kmk.1_Missense_Mutation_p.G3W	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	3					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)												0.348485	51.370934	52.722872	23	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3870062	3870062	4739	18	C	A	A	24	24	DLGAP1	A	3	3
SYT4	6860	broad.mit.edu	36	18	39104418	39104418	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:39104418G>A	uc002law.1	-	c.1164C>T	c.(1162-1164)ATC>ATT	p.I388I	SYT4_uc010dng.1_Non-coding_Transcript|SYT4_uc010dnh.1_Non-coding_Transcript	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	388	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity				0						NSCLC(85;81 1419 2855 22820 35912)								0.23219	187.283985	212.202828	88	291	GG		KEEP	---	---	---	---	capture			Silent	SNP	39104418	39104418	15997	18	G	A	A	37	37	SYT4	A	1	1
SYT4	6860	broad.mit.edu	36	18	39105783	39105783	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:39105783G>A	uc002law.1	-	c.862C>T	c.(862-864)CGG>TGG	p.R288W	SYT4_uc010dng.1_Non-coding_Transcript|SYT4_uc010dnh.1_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	288	Phospholipid binding (Probable).|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity				0						NSCLC(85;81 1419 2855 22820 35912)								0.443925	265.388256	265.975386	95	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39105783	39105783	15997	18	G	A	A	40	40	SYT4	A	1	1
SYT4	6860	broad.mit.edu	36	18	39107897	39107897	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:39107897G>A	uc002law.1	-	c.495C>T	c.(493-495)TTC>TTT	p.F165F	SYT4_uc010dng.1_Intron|SYT4_uc010dnh.1_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	165	Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity				0						NSCLC(85;81 1419 2855 22820 35912)								0.430464	182.54658	183.183957	65	86	GG		KEEP	---	---	---	---	capture			Silent	SNP	39107897	39107897	15997	18	G	A	A	37	37	SYT4	A	1	1
SETBP1	26040	broad.mit.edu	36	18	40784953	40784953	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:40784953C>A	uc010dni.1	+	c.1488C>A	c.(1486-1488)ACC>ACA	p.T496T	SETBP1_uc002laz.1_Silent_p.T496T	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	550						nucleus	DNA binding			large_intestine(1)	1														0.181818	131.156561	172.015392	78	351	CC		KEEP	---	---	---	---	capture		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	Silent	SNP	40784953	40784953	14617	18	C	A	A	24	24	SETBP1	A	3	3
SLC14A2	8170	broad.mit.edu	36	18	41506944	41506944	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:41506944C>A	uc010dnj.1	+	c.2311C>A	c.(2311-2313)CTG>ATG	p.L771M	SLC14A2_uc002lbe.1_Missense_Mutation_p.L771M	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	771	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.443366	357.274234	358.145511	137	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41506944	41506944	14892	18	C	A	A	32	32	SLC14A2	A	3	3
SIGLEC15	284266	broad.mit.edu	36	18	41659695	41659695	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:41659695G>A	uc002lbl.1	+	c.4G>A	c.(4-6)GAA>AAA	p.E2K		NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	2						integral to membrane					0														0.214286	58.870704	68.359612	27	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41659695	41659695	14805	18	G	A	A	41	41	SIGLEC15	A	2	2
KIAA1632	57724	broad.mit.edu	36	18	41716320	41716320	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:41716320T>G	uc002lbm.1	-	c.5435A>C	c.(5434-5436)AAT>ACT	p.N1812T	KIAA1632_uc002lbn.1_Missense_Mutation_p.N687T	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1812					autophagy						0														0.225	123.282031	137.167847	45	155	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41716320	41716320	8558	18	T	G	G	52	52	KIAA1632	G	4	4
KIAA1632	57724	broad.mit.edu	36	18	41721817	41721817	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:41721817C>A	uc002lbm.1	-	c.5006G>T	c.(5005-5007)GGC>GTC	p.G1669V	KIAA1632_uc002lbn.1_Missense_Mutation_p.G544V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1669					autophagy						0														0.226721	123.086745	140.013267	56	191	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41721817	41721817	8558	18	C	A	A	26	26	KIAA1632	A	3	3
TCEB3C	162699	broad.mit.edu	36	18	42808603	42808603	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:42808603G>A	uc010dns.1	-	c.1609C>T	c.(1609-1611)CGA>TGA	p.R537*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.1_Intron|KATNAL2_uc002lcp.2_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|transcription regulator activity				0														0.104096	28.173246	119.573614	61	525	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	42808603	42808603	16209	18	G	A	A	37	37	TCEB3C	A	5	1
TCEB3B	51224	broad.mit.edu	36	18	42813806	42813806	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:42813806G>A	uc002lcr.1	-	c.1828C>T	c.(1828-1830)CGG>TGG	p.R610W	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.1_Intron|KATNAL2_uc002lcp.2_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	610	Activation domain (By similarity).				transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding|transcription elongation regulator activity			ovary(2)|large_intestine(1)|pancreas(1)	4														0.370492	286.468318	290.97251	113	192	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42813806	42813806	16208	18	G	A	A	38	38	TCEB3B	A	1	1
KIAA0427	9811	broad.mit.edu	36	18	44444183	44444183	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:44444183C>T	uc002ldd.1	+	c.315C>T	c.(313-315)TTC>TTT	p.F105F	KIAA0427_uc002ldc.1_Silent_p.F105F	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	105	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0												OREG0024970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.435644	244.969056	245.697794	88	114	CC		KEEP	---	---	---	---	capture			Silent	SNP	44444183	44444183	8483	18	C	T	T	31	31	KIAA0427	T	1	1
KIAA0427	9811	broad.mit.edu	36	18	44492020	44492020	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:44492020C>T	uc002ldd.1	+	c.540C>T	c.(538-540)ATC>ATT	p.I180I	KIAA0427_uc002ldc.1_Silent_p.I180I	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	180	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0												OREG0024973	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.436059	579.927482	581.625694	208	269	CC		KEEP	---	---	---	---	capture			Silent	SNP	44492020	44492020	8483	18	C	T	T	31	31	KIAA0427	T	1	1
KIAA0427	9811	broad.mit.edu	36	18	44541926	44541926	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:44541926C>T	uc002ldd.1	+	c.1245C>T	c.(1243-1245)ATC>ATT	p.I415I	KIAA0427_uc002ldc.1_Silent_p.I413I|KIAA0427_uc002lde.2_Silent_p.I42I	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	413	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0														0.495495	150.484787	150.486988	55	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	44541926	44541926	8483	18	C	T	T	31	31	KIAA0427	T	1	1
KIAA0427	9811	broad.mit.edu	36	18	44541992	44541992	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:44541992C>T	uc002ldd.1	+	c.1311C>T	c.(1309-1311)TGC>TGT	p.C437C	KIAA0427_uc002ldc.1_Silent_p.C435C|KIAA0427_uc002lde.2_Silent_p.C64C	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	435	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0														0.4375	231.010661	231.654986	84	108	CC		KEEP	---	---	---	---	capture			Silent	SNP	44541992	44541992	8483	18	C	T	T	27	27	KIAA0427	T	1	1
DYM	54808	broad.mit.edu	36	18	45210760	45210760	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:45210760C>A	uc002ldi.1	-	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	1						Golgi apparatus					0														0.389558	268.331232	270.986791	97	152	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45210760	45210760	5026	18	C	A	A	21	21	DYM	A	3	3
LIPG	9388	broad.mit.edu	36	18	45349900	45349900	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:45349900G>A	uc002ldv.1	+	c.555G>A	c.(553-555)ACG>ACA	p.T185T	LIPG_uc002ldu.1_Silent_p.T185T	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	185					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)	1						Pancreas(126;280 1778 12814 26243 34948)								0.212121	33.133301	38.175063	14	52	GG		KEEP	---	---	---	---	capture			Silent	SNP	45349900	45349900	9150	18	G	A	A	39	39	LIPG	A	1	1
LIPG	9388	broad.mit.edu	36	18	45361819	45361819	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:45361819C>A	uc002ldv.1	+	c.830C>A	c.(829-831)GCC>GAC	p.A277D	LIPG_uc002ldu.1_Missense_Mutation_p.A277D	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	277					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)	1						Pancreas(126;280 1778 12814 26243 34948)								0.24537	120.271831	133.02835	53	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45361819	45361819	9150	18	C	A	A	26	26	LIPG	A	3	3
LIPG	9388	broad.mit.edu	36	18	45362802	45362802	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:45362802T>C	uc002ldv.1	+	c.1109T>C	c.(1108-1110)GTC>GCC	p.V370A		NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	370	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)	1						Pancreas(126;280 1778 12814 26243 34948)								0.224044	104.971945	117.794635	41	142	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45362802	45362802	9150	18	T	C	C	58	58	LIPG	C	4	4
LIPG	9388	broad.mit.edu	36	18	45363978	45363978	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:45363978G>T	uc002ldv.1	+	c.1212G>T	c.(1210-1212)GAG>GAT	p.E404D		NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	404	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)	1						Pancreas(126;280 1778 12814 26243 34948)								0.148936	48.653097	76.470172	35	200	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45363978	45363978	9150	18	G	T	T	35	35	LIPG	T	3	3
LIPG	9388	broad.mit.edu	36	18	45364078	45364078	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:45364078C>T	uc002ldv.1	+	c.1312C>T	c.(1312-1314)CGC>TGC	p.R438C		NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	438	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)	1						Pancreas(126;280 1778 12814 26243 34948)								0.272727	64.081017	68.691206	27	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45364078	45364078	9150	18	C	T	T	23	23	LIPG	T	1	1
MYO5B	4645	broad.mit.edu	36	18	45659349	45659349	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:45659349T>C	uc002leb.1	-	c.3240A>G	c.(3238-3240)AGA>AGG	p.R1080R	MYO5B_uc002lea.1_Silent_p.R221R	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1080	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(1)	1														0.212389	120.086536	137.357685	48	178	TT		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(32;0.103)	Silent	SNP	45659349	45659349	10474	18	T	C	C	50	50	MYO5B	C	4	4
MYO5B	4645	broad.mit.edu	36	18	45760838	45760838	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:45760838G>A	uc002leb.1	-	c.1030C>T	c.(1030-1032)CGT>TGT	p.R344C	MYO5B_uc002lec.1_Missense_Mutation_p.R343C	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	344	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(1)	1														0.214286	74.105518	86.776072	36	132	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(32;0.103)	Missense_Mutation	SNP	45760838	45760838	10474	18	G	A	A	38	38	MYO5B	A	1	1
MBD1	4152	broad.mit.edu	36	18	46054118	46054118	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:46054118G>T	uc002lem.2	-	c.1260C>A	c.(1258-1260)ACC>ACA	p.T420T	MBD1_uc002lef.2_Silent_p.T171T|MBD1_uc010dow.1_Silent_p.T420T|MBD1_uc002leg.2_Silent_p.T370T|MBD1_uc002leh.2_Silent_p.T364T|MBD1_uc002lei.2_Silent_p.T420T|MBD1_uc002lej.2_Silent_p.T364T|MBD1_uc002lek.2_Silent_p.T371T|MBD1_uc002lel.2_Silent_p.T397T|MBD1_uc002len.2_Silent_p.T420T|MBD1_uc010dox.1_Silent_p.T397T|MBD1_uc002leo.2_Silent_p.T420T	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	420					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.620818	486.542956	489.980335	167	102	GG		KEEP	---	---	---	---	capture			Silent	SNP	46054118	46054118	9726	18	G	T	T	35	35	MBD1	T	3	3
MBD1	4152	broad.mit.edu	36	18	46056051	46056051	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:46056051A>C	uc002lem.2	-	c.709T>G	c.(709-711)TGT>GGT	p.C237G	MBD1_uc002lef.2_Missense_Mutation_p.C19G|MBD1_uc010dow.1_Missense_Mutation_p.C237G|MBD1_uc002leg.2_Missense_Mutation_p.C188G|MBD1_uc002leh.2_Missense_Mutation_p.C237G|MBD1_uc002lei.2_Missense_Mutation_p.C237G|MBD1_uc002lej.2_Missense_Mutation_p.C237G|MBD1_uc002lek.2_Missense_Mutation_p.C188G|MBD1_uc002lel.2_Missense_Mutation_p.C237G|MBD1_uc002len.2_Missense_Mutation_p.C237G|MBD1_uc010dox.1_Missense_Mutation_p.C237G|MBD1_uc002leo.2_Missense_Mutation_p.C237G	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	237	CXXC-type 2.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.378641	121.863261	123.206099	39	64	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46056051	46056051	9726	18	A	C	C	5	5	MBD1	C	4	4
MBD1	4152	broad.mit.edu	36	18	46057364	46057364	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:46057364G>A	uc002lem.2	-	c.228C>T	c.(226-228)GCC>GCT	p.A76A	MBD1_uc002lef.2_5'UTR|MBD1_uc010dow.1_Silent_p.A76A|MBD1_uc002leg.2_Silent_p.A76A|MBD1_uc002leh.2_Silent_p.A76A|MBD1_uc002lei.2_Silent_p.A76A|MBD1_uc002lej.2_Silent_p.A76A|MBD1_uc002lek.2_Silent_p.A76A|MBD1_uc002lel.2_Silent_p.A76A|MBD1_uc002len.2_Silent_p.A76A|MBD1_uc010dox.1_Silent_p.A76A|MBD1_uc002leo.2_Silent_p.A76A	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	76					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.448052	213.351914	213.714169	69	85	GG		KEEP	---	---	---	---	capture			Silent	SNP	46057364	46057364	9726	18	G	A	A	43	43	MBD1	A	2	2
CXXC1	30827	broad.mit.edu	36	18	46063281	46063281	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:46063281G>A	uc002ler.2	-	c.1777C>T	c.(1777-1779)CGC>TGC	p.R593C	MBD1_uc010dow.1_5'Flank|MBD1_uc002leg.2_5'Flank|MBD1_uc002leh.2_5'Flank|MBD1_uc002lei.2_5'Flank|MBD1_uc002lej.2_5'Flank|MBD1_uc002lek.2_5'Flank|MBD1_uc002lel.2_5'Flank|MBD1_uc002lem.2_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.2_Missense_Mutation_p.R446C|CXXC1_uc002leq.2_Missense_Mutation_p.R589C|CXXC1_uc010doy.1_Silent_p.I576I	NM_001101654	NP_001095124	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 1	589					histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|transcription activator activity|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2														0.426357	150.997653	151.608914	55	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46063281	46063281	4257	18	G	A	A	37	37	CXXC1	A	1	1
SKA1	220134	broad.mit.edu	36	18	46171648	46171648	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:46171648G>A	uc002leu.1	+	c.606G>A	c.(604-606)ACG>ACA	p.T202T	SKA1_uc002let.1_Silent_p.T202T	NM_001039535	NP_659497	Q96BD8	SKA1_HUMAN	spindle and KT associated 1	202					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0														0.208861	69.385186	81.788307	33	125	GG		KEEP	---	---	---	---	capture			Silent	SNP	46171648	46171648	14847	18	G	A	A	37	37	SKA1	A	1	1
ME2	4200	broad.mit.edu	36	18	46697740	46697740	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:46697740G>T	uc002ley.1	+	c.494G>T	c.(493-495)AGA>ATA	p.R165I	ME2_uc010dpd.1_Missense_Mutation_p.R165I	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	165	NAD.	Substrate.			malate metabolic process|oxidation-reduction 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)			NADH(DB00157)									0.245902	90.13088	100.945102	45	138	GG		KEEP	---	---	---	---	capture		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	Missense_Mutation	SNP	46697740	46697740	9807	18	G	T	T	33	33	ME2	T	3	3
DCC	1630	broad.mit.edu	36	18	48988113	48988113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:48988113C>T	uc002lfe.1	+	c.1789C>T	c.(1789-1791)CGA>TGA	p.R597*	DCC_uc010dpf.1_Nonsense_Mutation_p.R252*	NM_005215	NP_005206	P43146	DCC_HUMAN	deleted in colorectal carcinoma	597	Extracellular (Potential).|Fibronectin type-III 2.				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)												0.203593	135.474666	162.770644	68	266	CC		KEEP	---	---	---	---	capture		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	Nonsense_Mutation	SNP	48988113	48988113	4453	18	C	T	T	31	31	DCC	T	5	1
DCC	1630	broad.mit.edu	36	18	49279794	49279794	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:49279794C>T	uc002lfe.1	+	c.4027C>T	c.(4027-4029)CGC>TGC	p.R1343C	DCC_uc010dpf.1_Missense_Mutation_p.R976C	NM_005215	NP_005206	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1343	Cytoplasmic (Potential).				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)												0.464419	372.776513	373.069898	124	143	CC		KEEP	---	---	---	---	capture		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	Missense_Mutation	SNP	49279794	49279794	4453	18	C	T	T	23	23	DCC	T	1	1
DCC	1630	broad.mit.edu	36	18	49279863	49279863	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:49279863C>A	uc002lfe.1	+	c.4096C>A	c.(4096-4098)CTT>ATT	p.L1366I	DCC_uc010dpf.1_Missense_Mutation_p.L999I	NM_005215	NP_005206	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1366	Cytoplasmic (Potential).				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)												0.218085	84.259172	98.046659	41	147	CC		KEEP	---	---	---	---	capture		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	Missense_Mutation	SNP	49279863	49279863	4453	18	C	A	A	20	20	DCC	A	3	3
POLI	11201	broad.mit.edu	36	18	50074429	50074429	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:50074429G>A	uc002lfj.2	+	c.1817G>A	c.(1816-1818)GGC>GAC	p.G606D	POLI_uc002lfk.2_Missense_Mutation_p.G503D|POLI_uc010dpg.1_Missense_Mutation_p.G202D	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	606	Ser-rich.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3														0.401575	140.011075	141.082653	51	76	GG		KEEP	---	---	---	---	capture		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	Missense_Mutation	SNP	50074429	50074429	12631	18	G	A	A	42	42	POLI	A	2	2
C18orf54	162681	broad.mit.edu	36	18	50140945	50140945	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:50140945C>T	uc002lfo.2	+	c.5C>T	c.(4-6)GCG>GTG	p.A2V	C18orf54_uc002lfn.2_Missense_Mutation_p.A2V	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681	2						extracellular region				ovary(1)	1														0.432836	239.281514	240.074031	87	114	CC		KEEP	---	---	---	---	capture		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	Missense_Mutation	SNP	50140945	50140945	1965	18	C	T	T	27	27	C18orf54	T	1	1
C18orf54	162681	broad.mit.edu	36	18	50142086	50142086	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:50142086C>T	uc002lfo.2	+	c.359C>T	c.(358-360)TCC>TTC	p.S120F	C18orf54_uc002lfn.2_Missense_Mutation_p.S120F	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681	120						extracellular region				ovary(1)	1														0.471698	147.737111	147.811406	50	56	CC		KEEP	---	---	---	---	capture		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	Missense_Mutation	SNP	50142086	50142086	1965	18	C	T	T	30	30	C18orf54	T	2	2
CCDC68	80323	broad.mit.edu	36	18	50756249	50756249	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:50756249C>A	uc002lfs.1	-	c.282G>T	c.(280-282)AAG>AAT	p.K94N	CCDC68_uc002lft.1_Missense_Mutation_p.K94N	NM_025214	NP_079490	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	94											0														0.431193	125.595919	126.048043	47	62	CC		KEEP	---	---	---	---	capture		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	Missense_Mutation	SNP	50756249	50756249	2963	18	C	A	A	32	32	CCDC68	A	3	3
TCF4	6925	broad.mit.edu	36	18	51403533	51403533	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:51403533C>T	uc002lga.2	-	c.427G>A	c.(427-429)GCA>ACA	p.A143T	TCF4_uc002lfz.2_Missense_Mutation_p.A41T|TCF4_uc010dph.1_Missense_Mutation_p.A41T|TCF4_uc010dpi.1_Missense_Mutation_p.A41T	NM_001083962	NP_001077431	P15884	ITF2_HUMAN	transcription factor 4 isoform a	41	Essential for MYOD1 inhibition (By similarity).				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|transcription initiation factor activity			ovary(1)	1														0.363924	318.940995	324.087558	115	201	CC		KEEP	---	---	---	---	capture		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	Missense_Mutation	SNP	51403533	51403533	16221	18	C	T	T	26	26	TCF4	T	2	2
WDR7	23335	broad.mit.edu	36	18	52504215	52504215	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:52504215G>A	uc002lgk.1	+	c.551G>A	c.(550-552)GGC>GAC	p.G184D	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.G184D	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	184	WD 3.									ovary(2)	2														0.205387	120.687748	144.622834	61	236	GG		KEEP	---	---	---	---	capture		Lung(128;0.0238)|Colorectal(16;0.0296)	Missense_Mutation	SNP	52504215	52504215	17893	18	G	A	A	42	42	WDR7	A	2	2
WDR7	23335	broad.mit.edu	36	18	52595031	52595031	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:52595031G>A	uc002lgk.1	+	c.2869G>A	c.(2869-2871)GCT>ACT	p.A957T	WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Intron	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	957										ovary(2)	2														0.455696	703.823713	704.768544	252	301	GG		KEEP	---	---	---	---	capture		Lung(128;0.0238)|Colorectal(16;0.0296)	Missense_Mutation	SNP	52595031	52595031	17893	18	G	A	A	38	38	WDR7	A	1	1
ST8SIA3	51046	broad.mit.edu	36	18	53172706	53172706	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:53172706G>T	uc002lgn.1	+	c.255G>T	c.(253-255)GAG>GAT	p.E85D		NM_015879	NP_056963	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide	85	Lumenal (Potential).				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)	1														0.203774	101.281526	122.889987	54	211	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	Missense_Mutation	SNP	53172706	53172706	15751	18	G	T	T	33	33	ST8SIA3	T	3	3
ONECUT2	9480	broad.mit.edu	36	18	53254929	53254929	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:53254929G>A	uc002lgo.1	+	c.983G>A	c.(982-984)GGC>GAC	p.G328D		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	328	CUT.				organ morphogenesis	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)												0.246154	34.592511	38.390912	16	49	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	Missense_Mutation	SNP	53254929	53254929	11274	18	G	A	A	42	42	ONECUT2	A	2	2
FECH	2235	broad.mit.edu	36	18	53377416	53377416	+	Missense_Mutation	SNP	C	T	T	rs35829977	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:53377416C>T	uc002lgp.2	-	c.781G>A	c.(781-783)GAG>AAG	p.E261K	FECH_uc002lgq.2_Missense_Mutation_p.E255K|FECH_uc002lgr.2_Missense_Mutation_p.E113K	NM_001012515	NP_001012533	P22830	HEMH_HUMAN	ferrochelatase isoform a precursor	255					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)												0.228723	92.92827	105.620403	43	145	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53377416	53377416	6045	18	C	T	T	31	31	FECH	T	1	1
NARS	4677	broad.mit.edu	36	18	53424146	53424146	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:53424146C>T	uc002lgs.2	-	c.1192G>A	c.(1192-1194)GTT>ATT	p.V398I	NARS_uc002lgt.2_Missense_Mutation_p.V397I	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	398					asparaginyl-tRNA aminoacylation|aspartyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)									0.142857	12.532678	20.27783	9	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53424146	53424146	10566	18	C	T	T	19	19	NARS	T	1	1
NARS	4677	broad.mit.edu	36	18	53438850	53438850	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:53438850G>A	uc002lgs.2	-	c.42C>T	c.(40-42)AGC>AGT	p.S14S	NARS_uc002lgt.2_Silent_p.S13S	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	14					asparaginyl-tRNA aminoacylation|aspartyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)									0.210784	87.516509	103.301194	43	161	GG		KEEP	---	---	---	---	capture			Silent	SNP	53438850	53438850	10566	18	G	A	A	38	38	NARS	A	1	1
ATP8B1	5205	broad.mit.edu	36	18	53470895	53470895	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:53470895A>G	uc002lgw.1	-	c.3080T>C	c.(3079-3081)CTA>CCA	p.L1027P		NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1027	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(4)|ovary(2)|central_nervous_system(2)	8		Colorectal(73;0.229)								950				0.482759	348.660278	348.711753	98	105	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53470895	53470895	1213	18	A	G	G	15	15	ATP8B1	G	4	4
ATP8B1	5205	broad.mit.edu	36	18	53510225	53510225	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:53510225G>A	uc002lgw.1	-	c.1032C>T	c.(1030-1032)ATC>ATT	p.I344I		NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	344	Helical; (Potential).		I -> F (in BRIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(4)|ovary(2)|central_nervous_system(2)	8		Colorectal(73;0.229)								950				0.382353	33.650199	34.068143	13	21	GG		KEEP	---	---	---	---	capture			Silent	SNP	53510225	53510225	1213	18	G	A	A	33	33	ATP8B1	A	2	2
EPB41L3	23136	broad.mit.edu	36	18	5406268	5406268	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:5406268A>C	uc002kmt.1	-	c.1616T>G	c.(1615-1617)CTG>CGG	p.L539R	EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010dkr.1_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	539	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.187023	100.723013	124.765393	49	213	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5406268	5406268	5347	18	A	C	C	7	7	EPB41L3	C	4	4
NEDD4L	23327	broad.mit.edu	36	18	54147336	54147336	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54147336C>T	uc002lgy.1	+	c.810C>T	c.(808-810)CCC>CCT	p.P270P	NEDD4L_uc002lgx.1_Silent_p.P270P|NEDD4L_uc002lgz.1_Silent_p.P270P|NEDD4L_uc002lhb.1_Silent_p.P149P|NEDD4L_uc002lhc.1_Silent_p.P262P|NEDD4L_uc002lhd.1_Silent_p.P149P|NEDD4L_uc002lhe.1_Silent_p.P262P|NEDD4L_uc002lhf.1_Silent_p.P149P|NEDD4L_uc002lhg.1_Silent_p.P149P|NEDD4L_uc002lhh.1_Silent_p.P149P|NEDD4L_uc010dpm.1_Silent_p.P121P	NM_015277	NP_056092	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	270					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity				0														0.510204	74.174585	74.179034	25	24	CC		KEEP	---	---	---	---	capture			Silent	SNP	54147336	54147336	10710	18	C	T	T	23	23	NEDD4L	T	1	1
ALPK2	115701	broad.mit.edu	36	18	54353446	54353446	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54353446C>A	uc002lhj.2	-	c.4953G>T	c.(4951-4953)AAG>AAT	p.K1651N	ALPK2_uc002lhk.1_Missense_Mutation_p.K982N	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1651					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.216667	102.448302	120.24253	52	188	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54353446	54353446	548	18	C	A	A	32	32	ALPK2	A	3	3
ALPK2	115701	broad.mit.edu	36	18	54354424	54354424	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54354424C>T	uc002lhj.2	-	c.3975G>A	c.(3973-3975)TGG>TGA	p.W1325*	ALPK2_uc002lhk.1_Nonsense_Mutation_p.W656*	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1325					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.199203	100.898064	122.039866	50	201	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	54354424	54354424	548	18	C	T	T	30	30	ALPK2	T	5	2
ALPK2	115701	broad.mit.edu	36	18	54355370	54355370	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54355370G>A	uc002lhj.2	-	c.3029C>T	c.(3028-3030)ACT>ATT	p.T1010I	ALPK2_uc002lhk.1_Missense_Mutation_p.T341I	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1010					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.194357	126.981992	154.773679	62	257	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54355370	54355370	548	18	G	A	A	36	36	ALPK2	A	2	2
MALT1	10892	broad.mit.edu	36	18	54565710	54565710	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54565710C>A	uc002lhm.1	+	c.2131C>A	c.(2131-2133)CTC>ATC	p.L711I	MALT1_uc002lhn.1_Missense_Mutation_p.L700I	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	711					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell activation|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|central_nervous_system(1)	3										549				0.218354	135.98397	159.109968	69	247	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54565710	54565710	9585	18	C	A	A	32	32	MALT1	A	3	3
MALT1	10892	broad.mit.edu	36	18	54566024	54566024	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54566024C>A	uc002lhm.1	+	c.2445C>A	c.(2443-2445)TTC>TTA	p.F815L	MALT1_uc002lhn.1_Missense_Mutation_p.F804L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	815					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell activation|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|central_nervous_system(1)	3										549				0.450602	511.632183	512.519484	187	228	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54566024	54566024	9585	18	C	A	A	32	32	MALT1	A	3	3
ZNF532	55205	broad.mit.edu	36	18	54738452	54738452	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54738452G>T	uc002lho.1	+	c.1953G>T	c.(1951-1953)AAG>AAT	p.K651N	ZNF532_uc002lhp.1_Missense_Mutation_p.K649N|ZNF532_uc002lhq.1_Missense_Mutation_p.K651N|ZNF532_uc002lhr.1_Missense_Mutation_p.K649N|ZNF532_uc002lhs.1_Missense_Mutation_p.K649N	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.21519	65.648788	77.496097	34	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54738452	54738452	18566	18	G	T	T	33	33	ZNF532	T	3	3
ZNF532	55205	broad.mit.edu	36	18	54771887	54771887	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54771887C>A	uc002lho.1	+	c.3026C>A	c.(3025-3027)TCT>TAT	p.S1009Y	ZNF532_uc002lhp.1_Missense_Mutation_p.S1007Y|ZNF532_uc002lhq.1_Missense_Mutation_p.S1009Y|ZNF532_uc002lhr.1_Missense_Mutation_p.S1007Y|ZNF532_uc002lhs.1_Missense_Mutation_p.S1007Y	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1009					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.289216	133.721432	141.860586	59	145	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54771887	54771887	18566	18	C	A	A	32	32	ZNF532	A	3	3
MC4R	4160	broad.mit.edu	36	18	56189744	56189744	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:56189744C>T	uc002lie.1	-	c.819G>A	c.(817-819)CAG>CAA	p.Q273Q		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	273	Extracellular (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding				0		Colorectal(73;0.0946)												0.240506	93.067577	102.779163	38	120	CC		KEEP	---	---	---	---	capture			Silent	SNP	56189744	56189744	9755	18	C	T	T	32	32	MC4R	T	2	2
MC4R	4160	broad.mit.edu	36	18	56190265	56190265	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:56190265C>T	uc002lie.1	-	c.298G>A	c.(298-300)GAA>AAA	p.E100K		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	100	Helical; Name=2; (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding				0		Colorectal(73;0.0946)												0.180095	73.412204	93.731567	38	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56190265	56190265	9755	18	C	T	T	32	32	MC4R	T	2	2
CDH20	28316	broad.mit.edu	36	18	57317480	57317480	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:57317480G>A	uc010dps.1	+	c.328G>A	c.(328-330)GAC>AAC	p.D110N	CDH20_uc002lif.2_Missense_Mutation_p.D104N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	110	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)												0.190476	29.246006	36.7763	16	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57317480	57317480	3235	18	G	A	A	37	37	CDH20	A	1	1
CDH20	28316	broad.mit.edu	36	18	57346411	57346411	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:57346411G>T	uc010dps.1	+	c.1249G>T	c.(1249-1251)GAT>TAT	p.D417Y	CDH20_uc002lif.2_Missense_Mutation_p.D411Y	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	417	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)												0.186501	183.683299	235.60053	105	458	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57346411	57346411	3235	18	G	T	T	33	33	CDH20	T	3	3
CDH20	28316	broad.mit.edu	36	18	57363243	57363243	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:57363243A>G	uc010dps.1	+	c.1534A>G	c.(1534-1536)ATC>GTC	p.I512V	CDH20_uc002lif.2_Missense_Mutation_p.I506V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	512	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)												0.181818	52.917859	65.482167	24	108	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57363243	57363243	3235	18	A	G	G	12	12	CDH20	G	4	4
KIAA1468	57614	broad.mit.edu	36	18	58050549	58050549	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:58050549C>A	uc002lil.1	+	c.1529C>A	c.(1528-1530)TCT>TAT	p.S510Y	KIAA1468_uc002lik.1_Missense_Mutation_p.S510Y|KIAA1468_uc002lim.1_Missense_Mutation_p.S154Y|KIAA1468_uc010dpu.1_Missense_Mutation_p.S154Y	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	510							binding			ovary(2)|breast(2)|large_intestine(1)	5		Colorectal(73;0.186)												0.459854	169.895606	170.08928	63	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58050549	58050549	8545	18	C	A	A	32	32	KIAA1468	A	3	3
PHLPP1	23239	broad.mit.edu	36	18	58760022	58760022	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:58760022T>C	uc002lis.1	+	c.1516T>C	c.(1516-1518)TAT>CAT	p.Y506H		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1018	LRR 16.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0														0.39	124.911907	125.968588	39	61	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58760022	58760022	12278	18	T	C	C	57	57	PHLPP1	C	4	4
PHLPP1	23239	broad.mit.edu	36	18	58796659	58796659	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:58796659G>A	uc002lis.1	+	c.2633G>A	c.(2632-2634)CGC>CAC	p.R878H		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1390	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0														0.242424	17.883601	19.880345	8	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58796659	58796659	12278	18	G	A	A	38	38	PHLPP1	A	1	1
BCL2	596	broad.mit.edu	36	18	59136488	59136488	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59136488G>T	uc002lit.1	-	c.392C>A	c.(391-393)GCC>GAC	p.A131D	BCL2_uc002liu.1_Missense_Mutation_p.A131D|BCL2_uc002liv.1_Missense_Mutation_p.A131D	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	131					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|transcription activator activity			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)			Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)					37				0.479769	236.82235	236.882988	83	90	GG		KEEP	---	---	---	---	capture		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Missense_Mutation	SNP	59136488	59136488	1386	18	G	T	T	42	42	BCL2	T	3	3
VPS4B	9525	broad.mit.edu	36	18	59211752	59211752	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59211752G>T	uc002lix.1	-	c.1103C>A	c.(1102-1104)CCT>CAT	p.P368H		NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	368					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1														0.21466	80.955061	95.32992	41	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59211752	59211752	17780	18	G	T	T	35	35	VPS4B	T	3	3
VPS4B	9525	broad.mit.edu	36	18	59215360	59215360	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59215360G>A	uc002lix.1	-	c.979C>T	c.(979-981)CGG>TGG	p.R327W	VPS4B_uc010dpx.1_Missense_Mutation_p.R327W|VPS4B_uc010dpy.1_Missense_Mutation_p.R209W|VPS4B_uc010dpz.1_Missense_Mutation_p.R209W	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	327					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1														0.227053	102.609231	116.772738	47	160	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59215360	59215360	17780	18	G	A	A	37	37	VPS4B	A	1	1
SERPINB5	5268	broad.mit.edu	36	18	59321928	59321928	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59321928C>T	uc002liz.2	+	c.1121C>T	c.(1120-1122)TCT>TTT	p.S374F		NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	374					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1														0.18299	146.973018	183.596407	71	317	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59321928	59321928	14592	18	C	T	T	32	32	SERPINB5	T	2	2
SERPINB12	89777	broad.mit.edu	36	18	59374401	59374401	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59374401A>C	uc002ljb.1	+	c.29A>C	c.(28-30)AAA>ACA	p.K10T	SERPINB12_uc002lja.1_Missense_Mutation_p.K10T	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	10					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0														0.200723	280.621659	326.65649	111	442	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59374401	59374401	14587	18	A	C	C	1	1	SERPINB12	C	4	4
SERPINB4	6318	broad.mit.edu	36	18	59456275	59456275	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59456275C>T	uc002ljf.1	-	c.831G>A	c.(829-831)GAG>GAA	p.E277E	SERPINB4_uc002lje.1_Silent_p.E256E|SERPINB4_uc002ljg.1_Silent_p.E277E|SERPINB4_uc002ljh.1_Silent_p.E277E	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	277					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.236025	93.662472	103.923787	38	123	CC		KEEP	---	---	---	---	capture			Silent	SNP	59456275	59456275	14591	18	C	T	T	32	32	SERPINB4	T	2	2
SERPINB11	89778	broad.mit.edu	36	18	59528453	59528453	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59528453T>C	uc002ljk.2	+	c.46T>C	c.(46-48)TTC>CTC	p.F16L	SERPINB11_uc010dqd.1_5'UTR|SERPINB11_uc002ljj.2_5'UTR|SERPINB11_uc010dqe.1_5'UTR|SERPINB11_uc010dqf.1_Missense_Mutation_p.F16L	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	16					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				Ovarian(27;496 784 5942 8975 23930)								0.386667	94.562798	95.405362	29	46	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59528453	59528453	14586	18	T	C	C	60	60	SERPINB11	C	4	4
SERPINB11	89778	broad.mit.edu	36	18	59538235	59538235	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59538235G>A	uc002ljk.2	+	c.484G>A	c.(484-486)GCA>ACA	p.A162T	SERPINB11_uc010dqd.1_Missense_Mutation_p.A48T|SERPINB11_uc002ljj.2_Missense_Mutation_p.A48T|SERPINB11_uc010dqe.1_Intron|SERPINB11_uc010dqf.1_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	162					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				Ovarian(27;496 784 5942 8975 23930)								0.468571	233.032759	233.183026	82	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59538235	59538235	14586	18	G	A	A	38	38	SERPINB11	A	1	1
SERPINB11	89778	broad.mit.edu	36	18	59538310	59538310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59538310C>T	uc002ljk.2	+	c.559C>T	c.(559-561)CAA>TAA	p.Q187*	SERPINB11_uc010dqd.1_Nonsense_Mutation_p.Q73*|SERPINB11_uc002ljj.2_Nonsense_Mutation_p.Q73*|SERPINB11_uc010dqe.1_Intron|SERPINB11_uc010dqf.1_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	187					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				Ovarian(27;496 784 5942 8975 23930)								0.401709	122.78938	123.78091	47	70	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	59538310	59538310	14586	18	C	T	T	17	17	SERPINB11	T	5	2
SERPINB7	8710	broad.mit.edu	36	18	59611386	59611386	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59611386G>A	uc002ljl.1	+	c.231G>A	c.(229-231)CAG>CAA	p.Q77Q	SERPINB7_uc002ljm.1_Silent_p.Q77Q|SERPINB7_uc010dqg.1_Silent_p.Q77Q	NM_001040147	NP_003775	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	77					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)												0.180451	49.31282	62.087495	24	109	GG		KEEP	---	---	---	---	capture			Silent	SNP	59611386	59611386	14594	18	G	A	A	36	36	SERPINB7	A	2	2
SERPINB7	8710	broad.mit.edu	36	18	59622810	59622810	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59622810T>C	uc002ljl.1	+	c.1104T>C	c.(1102-1104)GAT>GAC	p.D368D	SERPINB7_uc002ljm.1_Silent_p.D368D|SERPINB7_uc010dqg.1_Silent_p.D368D	NM_001040147	NP_003775	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	368					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)												0.477064	328.696173	328.795053	104	114	TT		KEEP	---	---	---	---	capture			Silent	SNP	59622810	59622810	14594	18	T	C	C	51	51	SERPINB7	C	4	4
SERPINB10	5273	broad.mit.edu	36	18	59753269	59753269	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59753269T>G	uc010dqi.1	+	c.1007T>G	c.(1006-1008)GTT>GGT	p.V336G	SERPINB10_uc002ljr.1_Missense_Mutation_p.V336G	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	336						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity			lung(1)|kidney(1)	2		Esophageal squamous(42;0.131)												0.401235	216.454369	217.832625	65	97	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59753269	59753269	14585	18	T	G	G	60	60	SERPINB10	G	4	4
SERPINB10	5273	broad.mit.edu	36	18	59753427	59753427	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59753427C>A	uc010dqi.1	+	c.1165C>A	c.(1165-1167)CTT>ATT	p.L389I	SERPINB10_uc002ljr.1_Missense_Mutation_p.L389I	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	389						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity			lung(1)|kidney(1)	2		Esophageal squamous(42;0.131)												0.255132	193.137494	211.708562	87	254	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59753427	59753427	14585	18	C	A	A	32	32	SERPINB10	A	3	3
SERPINB8	5271	broad.mit.edu	36	18	59798106	59798106	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59798106G>T	uc002lju.1	+	c.260G>T	c.(259-261)AGA>ATA	p.R87I	SERPINB8_uc002ljs.1_Missense_Mutation_p.R87I|SERPINB8_uc002ljt.1_Missense_Mutation_p.R87I|SERPINB8_uc002ljv.1_Missense_Mutation_p.R87I	NM_002640	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	87					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)										OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.215909	106.909547	126.597877	57	207	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59798106	59798106	14595	18	G	T	T	33	33	SERPINB8	T	3	3
CLUL1	27098	broad.mit.edu	36	18	614935	614935	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:614935T>C	uc002kkp.1	+	c.326T>C	c.(325-327)TTG>TCG	p.L109S	CLUL1_uc002kkq.1_Missense_Mutation_p.L109S	NM_014410	NP_954636	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	109	Potential.				cell death	extracellular region				ovary(2)	2														0.265152	88.268615	94.846837	35	97	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	614935	614935	3708	18	T	C	C	63	63	CLUL1	C	4	4
L3MBTL4	91133	broad.mit.edu	36	18	6203189	6203189	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6203189G>A	uc002kmz.2	-	c.940C>T	c.(940-942)CGT>TGT	p.R314C	L3MBTL4_uc010dkt.1_Missense_Mutation_p.R314C|L3MBTL4_uc002kmy.2_Missense_Mutation_p.R152C	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	314	MBT 3.				chromatin modification|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		Colorectal(10;0.0249)				Esophageal Squamous(41;748 902 17366 28959 43175)								0.480519	214.636279	214.687251	74	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6203189	6203189	8917	18	G	A	A	37	37	L3MBTL4	A	1	1
CDH19	28513	broad.mit.edu	36	18	62390249	62390249	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:62390249G>A	uc002lkc.1	-	c.173C>T	c.(172-174)ACG>ATG	p.T58M	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc002lkd.2_Missense_Mutation_p.T58M	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	58	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1		Esophageal squamous(42;0.0132)												0.511111	195.765448	195.779773	69	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62390249	62390249	3233	18	G	A	A	40	40	CDH19	A	1	1
DSEL	92126	broad.mit.edu	36	18	63330497	63330497	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:63330497C>T	uc002lke.1	-	c.2359G>A	c.(2359-2361)GGA>AGA	p.G787R	DSEL_uc010dqm.1_Missense_Mutation_p.G787R	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	777	Helical; (Potential).					integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5		Esophageal squamous(42;0.129)												0.463687	251.994098	252.200829	83	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63330497	63330497	4959	18	C	T	T	21	21	DSEL	T	2	2
DSEL	92126	broad.mit.edu	36	18	63331563	63331563	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:63331563C>A	uc002lke.1	-	c.1293G>T	c.(1291-1293)GGG>GGT	p.G431G	DSEL_uc010dqm.1_Silent_p.G431G	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	421						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5		Esophageal squamous(42;0.129)												0.240506	80.973455	90.684254	38	120	CC		KEEP	---	---	---	---	capture			Silent	SNP	63331563	63331563	4959	18	C	A	A	22	22	DSEL	A	3	3
DSEL	92126	broad.mit.edu	36	18	63332417	63332417	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:63332417C>A	uc002lke.1	-	c.439G>T	c.(439-441)GAA>TAA	p.E147*	DSEL_uc010dqm.1_Nonsense_Mutation_p.E147*	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	137						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5		Esophageal squamous(42;0.129)												0.429224	252.100365	253.059333	94	125	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	63332417	63332417	4959	18	C	A	A	32	32	DSEL	A	5	3
CD226	10666	broad.mit.edu	36	18	65765063	65765063	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:65765063T>G	uc010dqo.1	-	c.269A>C	c.(268-270)AAC>ACC	p.N90T	CD226_uc002lkm.2_Missense_Mutation_p.N90T	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	90	Ig-like C2-type 1.|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)				NSCLC(184;838 2130 8673 21498 50749)								0.423529	230.579307	231.444958	72	98	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65765063	65765063	3113	18	T	G	G	60	60	CD226	G	4	4
RTTN	25914	broad.mit.edu	36	18	65967181	65967181	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:65967181C>A	uc002lkp.1	-	c.2245G>T	c.(2245-2247)GAG>TAG	p.E749*	RTTN_uc002lko.1_Non-coding_Transcript	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	749							binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.214575	101.311144	119.923229	53	194	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	65967181	65967181	14217	18	C	A	A	32	32	RTTN	A	5	3
RTTN	25914	broad.mit.edu	36	18	66011622	66011622	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:66011622C>T	uc002lkp.1	-	c.889G>A	c.(889-891)GGT>AGT	p.G297S	RTTN_uc002lko.1_Non-coding_Transcript|RTTN_uc002lkq.1_Missense_Mutation_p.G297S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	297							binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.211921	78.814215	90.400155	32	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66011622	66011622	14217	18	C	T	T	24	24	RTTN	T	2	2
SOCS6	9306	broad.mit.edu	36	18	66143267	66143267	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:66143267G>A	uc002lkr.1	+	c.383G>A	c.(382-384)CGC>CAC	p.R128H	SOCS6_uc010dqq.1_Missense_Mutation_p.R128H	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	128					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)	1		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				Melanoma(84;1024 1361 24382 36583 42651)								0.242424	65.946636	73.929593	32	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66143267	66143267	15418	18	G	A	A	38	38	SOCS6	A	1	1
NETO1	81832	broad.mit.edu	36	18	68677287	68677287	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:68677287C>T	uc002lkw.2	-	c.223G>A	c.(223-225)GCT>ACT	p.A75T	NETO1_uc002lkx.1_Missense_Mutation_p.A74T|NETO1_uc002lky.1_Missense_Mutation_p.A75T|NETO1_uc002lkz.1_Missense_Mutation_p.A74T	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	75	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)	2		Esophageal squamous(42;0.129)												0.452128	234.643351	235.019186	85	103	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(1;0.0487)	Missense_Mutation	SNP	68677287	68677287	10738	18	C	T	T	27	27	NETO1	T	1	1
ARHGAP28	79822	broad.mit.edu	36	18	6879936	6879936	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6879936G>T	uc002knc.1	+	c.1430G>T	c.(1429-1431)CGA>CTA	p.R477L	ARHGAP28_uc002knd.1_Missense_Mutation_p.R370L|ARHGAP28_uc002kne.1_Missense_Mutation_p.R370L|ARHGAP28_uc002knf.1_Missense_Mutation_p.R361L	NM_030672	NP_109597	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28 isoform b	352					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)												0.178082	76.091754	97.463852	39	180	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6879936	6879936	889	18	G	T	T	37	37	ARHGAP28	T	3	3
ARHGAP28	79822	broad.mit.edu	36	18	6888536	6888536	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6888536T>C	uc002knc.1	+	c.1976T>C	c.(1975-1977)GTA>GCA	p.V659A	ARHGAP28_uc002knd.1_Missense_Mutation_p.V552A|ARHGAP28_uc002kne.1_Intron|ARHGAP28_uc002knf.1_Missense_Mutation_p.V543A	NM_030672	NP_109597	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28 isoform b	Error:Variant_position_missing_in_B4DXL2_after_alignment					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)												0.174497	118.729041	148.530213	52	246	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6888536	6888536	889	18	T	C	C	57	57	ARHGAP28	C	4	4
LAMA1	284217	broad.mit.edu	36	18	6948511	6948511	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6948511G>T	uc002knm.1	-	c.7929C>A	c.(7927-7929)TTC>TTA	p.F2643L	LAMA1_uc002knl.1_Missense_Mutation_p.F96L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2643	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.141975	28.204804	48.247179	23	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6948511	6948511	8928	18	G	T	T	41	41	LAMA1	T	3	3
LAMA1	284217	broad.mit.edu	36	18	6965962	6965962	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6965962G>T	uc002knm.1	-	c.6463C>A	c.(6463-6465)CTC>ATC	p.L2155I		NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2155	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.230159	116.70529	133.548295	58	194	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6965962	6965962	8928	18	G	T	T	33	33	LAMA1	T	3	3
LAMA1	284217	broad.mit.edu	36	18	6967821	6967821	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6967821G>A	uc002knm.1	-	c.6250C>T	c.(6250-6252)CGG>TGG	p.R2084W		NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2084	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)				p.R2084W(RAJI-Tumor)	1597				0.225806	45.328331	51.749628	21	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6967821	6967821	8928	18	G	A	A	37	37	LAMA1	A	1	1
LAMA1	284217	broad.mit.edu	36	18	6968369	6968369	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6968369C>A	uc002knm.1	-	c.6016G>T	c.(6016-6018)GAC>TAC	p.D2006Y		NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2006	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.138889	31.043114	53.7443	25	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6968369	6968369	8928	18	C	A	A	32	32	LAMA1	A	3	3
FBXO15	201456	broad.mit.edu	36	18	69947670	69947670	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:69947670A>G	uc002llf.1	-	c.735T>C	c.(733-735)TGT>TGC	p.C245C	FBXO15_uc002lle.1_Silent_p.C169C	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	169										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)												0.395973	173.396661	174.806376	59	90	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(31;0.143)	Silent	SNP	69947670	69947670	5965	18	A	G	G	6	6	FBXO15	G	4	4
LAMA1	284217	broad.mit.edu	36	18	7004025	7004025	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:7004025G>A	uc002knm.1	-	c.3152C>T	c.(3151-3153)TCG>TTG	p.S1051L		NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1051	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.204082	19.119961	23.10613	10	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7004025	7004025	8928	18	G	A	A	37	37	LAMA1	A	1	1
LAMA1	284217	broad.mit.edu	36	18	7013334	7013334	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:7013334C>T	uc002knm.1	-	c.2530G>A	c.(2530-2532)GAA>AAA	p.E844K		NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	844	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.27193	74.678044	80.022834	31	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7013334	7013334	8928	18	C	T	T	31	31	LAMA1	T	1	1
LAMA1	284217	broad.mit.edu	36	18	7040846	7040846	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:7040846C>T	uc002knm.1	-	c.435G>A	c.(433-435)ACG>ACA	p.T145T		NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	145	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)				p.T145T(KE39-Tumor)|p.T145T(SNU1040-Tumor)|p.T145T(SNU201-Tumor)	1597				0.177305	43.689419	57.523746	25	116	CC		KEEP	---	---	---	---	capture			Silent	SNP	7040846	7040846	8928	18	C	T	T	19	19	LAMA1	T	1	1
ZNF407	55628	broad.mit.edu	36	18	70472477	70472477	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:70472477G>A	uc002llw.2	+	c.514G>A	c.(514-516)GAA>AAA	p.E172K	ZNF407_uc010dqu.1_Missense_Mutation_p.E171K|ZNF407_uc002llu.2_Missense_Mutation_p.E171K	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)												0.414201	417.077426	419.263908	140	198	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(31;0.184)	Missense_Mutation	SNP	70472477	70472477	18480	18	G	A	A	33	33	ZNF407	A	2	2
ZNF407	55628	broad.mit.edu	36	18	70718157	70718157	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:70718157T>G	uc002llw.2	+	c.4894T>G	c.(4894-4896)TTA>GTA	p.L1632V	ZNF407_uc010dqu.1_Missense_Mutation_p.L1631V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1632	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)												0.207865	81.97307	96.049743	37	141	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(31;0.184)	Missense_Mutation	SNP	70718157	70718157	18480	18	T	G	G	56	56	ZNF407	G	4	4
ZNF407	55628	broad.mit.edu	36	18	70761572	70761572	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:70761572C>T	uc002llw.2	+	c.5364C>T	c.(5362-5364)TTC>TTT	p.F1788F	ZNF407_uc010dqu.1_Silent_p.F1787F	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1788	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)												0.189189	26.747365	33.405833	14	60	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(31;0.184)	Silent	SNP	70761572	70761572	18480	18	C	T	T	30	30	ZNF407	T	2	2
TSHZ1	10194	broad.mit.edu	36	18	71126577	71126577	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:71126577C>T	uc002lly.1	+	c.92C>T	c.(91-93)TCG>TTG	p.S31L	TSHZ1_uc002llz.2_Missense_Mutation_p.S31L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	76	Ser-rich.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)												0.22973	35.940262	40.89493	17	57	CC		KEEP	---	---	---	---	capture		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	Missense_Mutation	SNP	71126577	71126577	17174	18	C	T	T	31	31	TSHZ1	T	1	1
TSHZ1	10194	broad.mit.edu	36	18	71129481	71129481	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:71129481G>A	uc002lly.1	+	c.2996G>A	c.(2995-2997)CGG>CAG	p.R999Q	TSHZ1_uc002llz.2_Missense_Mutation_p.R999Q	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	1044	C2H2-type 5.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)												0.196721	101.769755	122.674715	48	196	GG		KEEP	---	---	---	---	capture		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	Missense_Mutation	SNP	71129481	71129481	17174	18	G	A	A	39	39	TSHZ1	A	1	1
ZNF516	9658	broad.mit.edu	36	18	72220924	72220924	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:72220924C>T	uc010dqx.1	-	c.2134G>A	c.(2134-2136)GAT>AAT	p.D712N	ZNF516_uc002lmd.2_Non-coding_Transcript|ZNF516_uc002lme.2_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)												0.40625	106.005322	106.742611	39	57	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	Missense_Mutation	SNP	72220924	72220924	18554	18	C	T	T	31	31	ZNF516	T	1	1
ZNF236	7776	broad.mit.edu	36	18	72690602	72690602	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:72690602G>A	uc002lmi.1	+	c.182G>A	c.(181-183)CGA>CAA	p.R61Q	ZNF236_uc002lmj.1_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.R61Q	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	61					cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)												0.486239	152.368698	152.386467	53	56	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	Missense_Mutation	SNP	72690602	72690602	18380	18	G	A	A	37	37	ZNF236	A	1	1
ZNF236	7776	broad.mit.edu	36	18	72692725	72692725	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:72692725C>T	uc002lmi.1	+	c.199C>T	c.(199-201)CGA>TGA	p.R67*	ZNF236_uc002lmj.1_Non-coding_Transcript|ZNF236_uc002lmk.1_Nonsense_Mutation_p.R67*	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	67	C2H2-type 2.				cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)												0.226667	35.430406	40.581694	17	58	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	Nonsense_Mutation	SNP	72692725	72692725	18380	18	C	T	T	31	31	ZNF236	T	5	1
ZNF236	7776	broad.mit.edu	36	18	72764023	72764023	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:72764023G>A	uc002lmi.1	+	c.3560G>A	c.(3559-3561)CGA>CAA	p.R1187Q	ZNF236_uc002lmj.1_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1187	C2H2-type 22.				cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)												0.35	90.237319	92.203241	35	65	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	Missense_Mutation	SNP	72764023	72764023	18380	18	G	A	A	37	37	ZNF236	A	1	1
SALL3	27164	broad.mit.edu	36	18	74856148	74856148	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:74856148G>A	uc002lmt.1	+	c.3169G>A	c.(3169-3171)GCA>ACA	p.A1057T	SALL3_uc010dra.1_Missense_Mutation_p.A592T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1057					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)												0.265625	73.691543	80.048131	34	94	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	Missense_Mutation	SNP	74856148	74856148	14292	18	G	A	A	38	38	SALL3	A	1	1
ATP9B	374868	broad.mit.edu	36	18	75114462	75114462	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75114462T>G	uc002lmx.1	+	c.1201T>G	c.(1201-1203)TTT>GTT	p.F401V	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.F401V|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Missense_Mutation_p.F95V	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	401	Helical; (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)												0.452471	781.919697	782.950152	238	288	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	Missense_Mutation	SNP	75114462	75114462	1218	18	T	G	G	52	52	ATP9B	G	4	4
ATP9B	374868	broad.mit.edu	36	18	75190284	75190284	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75190284C>T	uc002lmx.1	+	c.1929C>T	c.(1927-1929)ATC>ATT	p.I643I	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Silent_p.I643I|ATP9B_uc002lmz.1_Silent_p.I337I	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	643	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)												0.2	100.311239	122.141297	52	208	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	Silent	SNP	75190284	75190284	1218	18	C	T	T	31	31	ATP9B	T	1	1
ATP9B	374868	broad.mit.edu	36	18	75233865	75233865	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75233865A>G	uc002lmx.1	+	c.3065A>G	c.(3064-3066)TAC>TGC	p.Y1022C	ATP9B_uc002lmw.1_Missense_Mutation_p.Y1022C|ATP9B_uc002lna.1_Missense_Mutation_p.Y48C|ATP9B_uc010drb.1_Non-coding_Transcript|ATP9B_uc002lnb.1_Silent_p.L120L	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1022	Helical; (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)												0.304054	134.025753	139.09289	45	103	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	Missense_Mutation	SNP	75233865	75233865	1218	18	A	G	G	14	14	ATP9B	G	4	4
NFATC1	4772	broad.mit.edu	36	18	75271644	75271644	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75271644C>T	uc002lnf.1	+	c.342C>T	c.(340-342)GGC>GGT	p.G114G	NFATC1_uc002lnd.1_Silent_p.G127G|NFATC1_uc002lne.1_Intron|NFATC1_uc002lng.1_Silent_p.G114G|NFATC1_uc002lnc.1_Silent_p.G127G	NM_172387	NP_765975	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	127	Trans-activation domain A (TAD-A).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)				GBM(151;1210 2593 28719 45011)				1639				0.178218	33.203886	43.039719	18	83	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Silent	SNP	75271644	75271644	10761	18	C	T	T	26	26	NFATC1	T	2	2
NFATC1	4772	broad.mit.edu	36	18	75312788	75312788	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75312788C>T	uc002lnf.1	+	c.1848C>T	c.(1846-1848)TTC>TTT	p.F616F	NFATC1_uc002lnd.1_Silent_p.F629F|NFATC1_uc002lne.1_Silent_p.F157F|NFATC1_uc002lng.1_Silent_p.F616F|NFATC1_uc002lnc.1_Silent_p.F629F	NM_172387	NP_765975	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	629					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)				GBM(151;1210 2593 28719 45011)				1639				0.459459	241.250246	241.515276	85	100	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Silent	SNP	75312788	75312788	10761	18	C	T	T	31	31	NFATC1	T	1	1
CTDP1	9150	broad.mit.edu	36	18	75565808	75565808	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75565808G>A	uc002lnh.1	+	c.675G>A	c.(673-675)CTG>CTA	p.L225L	CTDP1_uc002lni.1_Silent_p.L225L|CTDP1_uc010drd.1_Silent_p.L225L	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	225	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)												0.469828	288.619426	288.805397	109	123	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	Silent	SNP	75565808	75565808	4161	18	G	A	A	46	46	CTDP1	A	2	2
CTDP1	9150	broad.mit.edu	36	18	75571388	75571388	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75571388A>G	uc002lnh.1	+	c.827A>G	c.(826-828)GAA>GGA	p.E276G	CTDP1_uc002lni.1_Missense_Mutation_p.E276G|CTDP1_uc010drd.1_Missense_Mutation_p.E276G	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	276	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)												0.197505	246.773459	287.738173	95	386	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	Missense_Mutation	SNP	75571388	75571388	4161	18	A	G	G	9	9	CTDP1	G	4	4
ADNP2	22850	broad.mit.edu	36	18	75996360	75996360	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75996360G>A	uc002lnw.1	+	c.2073G>A	c.(2071-2073)AAG>AAA	p.K691K		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	691					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(3)|central_nervous_system(1)	7		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)												0.163366	61.272187	83.003338	33	169	GG		KEEP	---	---	---	---	capture		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	Silent	SNP	75996360	75996360	325	18	G	A	A	34	34	ADNP2	A	2	2
ADNP2	22850	broad.mit.edu	36	18	75996724	75996724	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75996724G>A	uc002lnw.1	+	c.2437G>A	c.(2437-2439)GAT>AAT	p.D813N		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	813					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(3)|central_nervous_system(1)	7		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)												0.192	92.66945	114.815807	48	202	GG		KEEP	---	---	---	---	capture		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	Missense_Mutation	SNP	75996724	75996724	325	18	G	A	A	37	37	ADNP2	A	1	1
PARD6G	84552	broad.mit.edu	36	18	76018873	76018873	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:76018873G>A	uc002lny.1	-	c.903C>T	c.(901-903)GTC>GTT	p.V301V		NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	301					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)												0.5	22.098368	22.098368	8	8	GG		KEEP	---	---	---	---	capture		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	Silent	SNP	76018873	76018873	11864	18	G	A	A	37	37	PARD6G	A	1	1
KIAA0802	23255	broad.mit.edu	36	18	8774605	8774605	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:8774605G>T	uc002knr.2	+	c.1495G>T	c.(1495-1497)GAG>TAG	p.E499*	KIAA0802_uc002knq.2_Nonsense_Mutation_p.E499*|KIAA0802_uc010dkw.1_Nonsense_Mutation_p.E337*	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	850										ovary(6)|central_nervous_system(1)	7										468				0.494118	216.331717	216.337622	84	86	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	8774605	8774605	8501	18	G	T	T	33	33	KIAA0802	T	5	3
KIAA0802	23255	broad.mit.edu	36	18	8786347	8786347	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:8786347G>A	uc002knr.2	+	c.2128G>A	c.(2128-2130)GAG>AAG	p.E710K	KIAA0802_uc002knq.2_Missense_Mutation_p.E669K|KIAA0802_uc002kns.2_Missense_Mutation_p.E40K	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	1020										ovary(6)|central_nervous_system(1)	7										468				0.477157	273.133347	273.222739	94	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8786347	8786347	8501	18	G	A	A	41	41	KIAA0802	A	2	2
KIAA0802	23255	broad.mit.edu	36	18	8818938	8818938	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:8818938A>G	uc002knr.2	+	c.4755A>G	c.(4753-4755)GGA>GGG	p.G1585G	KIAA0802_uc002knq.2_Silent_p.G1544G|KIAA0802_uc002kns.2_Intron|KIAA0802_uc002knt.2_5'Flank	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	1895										ovary(6)|central_nervous_system(1)	7										468				0.181818	61.672195	78.473658	32	144	AA		KEEP	---	---	---	---	capture			Silent	SNP	8818938	8818938	8501	18	A	G	G	10	10	KIAA0802	G	4	4
ADCYAP1	116	broad.mit.edu	36	18	895432	895432	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:895432G>A	uc010dkg.1	+	c.45G>A	c.(43-45)GGG>GGA	p.G15G	ADCYAP1_uc010dkh.1_Silent_p.G15G	NM_001099733	NP_001108	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	15					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0														0.133333	30.361467	57.691909	28	182	GG		KEEP	---	---	---	---	capture			Silent	SNP	895432	895432	303	18	G	A	A	41	41	ADCYAP1	A	2	2
ANKRD12	23253	broad.mit.edu	36	18	9244528	9244528	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:9244528C>A	uc002knv.2	+	c.1263C>A	c.(1261-1263)GTC>GTA	p.V421V	ANKRD12_uc002knw.2_Silent_p.V398V|ANKRD12_uc002knx.2_Silent_p.V398V|ANKRD12_uc010dkx.1_Silent_p.V128V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	421						nucleus				ovary(2)|central_nervous_system(1)	3														0.460064	390.93818	391.374966	144	169	CC		KEEP	---	---	---	---	capture			Silent	SNP	9244528	9244528	643	18	C	A	A	32	32	ANKRD12	A	3	3
ANKRD12	23253	broad.mit.edu	36	18	9245009	9245009	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:9245009C>T	uc002knv.2	+	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	ANKRD12_uc002knw.2_Missense_Mutation_p.R559W|ANKRD12_uc002knx.2_Missense_Mutation_p.R559W|ANKRD12_uc010dkx.1_Missense_Mutation_p.R289W	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	582						nucleus				ovary(2)|central_nervous_system(1)	3														0.226974	154.20327	175.016493	69	235	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9245009	9245009	643	18	C	T	T	31	31	ANKRD12	T	1	1
ANKRD12	23253	broad.mit.edu	36	18	9245889	9245889	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:9245889C>T	uc002knv.2	+	c.2624C>T	c.(2623-2625)TCG>TTG	p.S875L	ANKRD12_uc002knw.2_Missense_Mutation_p.S852L|ANKRD12_uc002knx.2_Missense_Mutation_p.S852L|ANKRD12_uc010dkx.1_Missense_Mutation_p.S582L	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	875						nucleus				ovary(2)|central_nervous_system(1)	3														0.507246	101.320952	101.324045	35	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9245889	9245889	643	18	C	T	T	31	31	ANKRD12	T	1	1
TWSG1	57045	broad.mit.edu	36	18	9389433	9389433	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:9389433C>T	uc002knz.1	+	c.580C>T	c.(580-582)CGC>TGC	p.R194C	TWSG1_uc002koa.1_Missense_Mutation_p.R119C	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	twisted gastrulation	194										ovary(1)|pancreas(1)	2														0.207865	74.674424	88.751824	37	141	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9389433	9389433	17341	18	C	T	T	31	31	TWSG1	T	1	1
RALBP1	10928	broad.mit.edu	36	18	9507031	9507031	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:9507031A>C	uc002kob.1	+	c.433A>C	c.(433-435)AAA>CAA	p.K145Q	RALBP1_uc002koc.1_Missense_Mutation_p.K145Q	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	145					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1									p.K145Q(GI1-Tumor)	246				0.258065	23.987452	25.630197	8	23	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9507031	9507031	13472	18	A	C	C	1	1	RALBP1	C	4	4
PPP4R1	9989	broad.mit.edu	36	18	9573171	9573171	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:9573171G>A	uc002koe.1	-	c.862C>T	c.(862-864)CGA>TGA	p.R288*	PPP4R1_uc002kod.1_Nonsense_Mutation_p.R271*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	288	HEAT 9.				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity				0						Melanoma(188;1232 2082 5061 11948 35994)								0.141844	29.210339	46.65168	20	121	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	9573171	9573171	12839	18	G	A	A	39	39	PPP4R1	A	5	1
TXNDC2	84203	broad.mit.edu	36	18	9877226	9877226	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:9877226G>A	uc002koi.2	+	c.750G>A	c.(748-750)AAG>AAA	p.K250K	TXNDC2_uc002koh.2_Silent_p.K183K|TXNDC2_uc010dky.1_Silent_p.K183K	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	250	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|10.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2														0.20649	165.288327	192.340377	70	269	GG		KEEP	---	---	---	---	capture			Silent	SNP	9877226	9877226	17353	18	G	A	A	35	35	TXNDC2	A	2	2
TXNDC2	84203	broad.mit.edu	36	18	9877718	9877718	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:9877718C>T	uc002koi.2	+	c.1242C>T	c.(1240-1242)CCC>CCT	p.P414P	TXNDC2_uc002koh.2_Silent_p.P347P|TXNDC2_uc010dky.1_Silent_p.P347P	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	414	21.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2														0.333333	140.00198	144.440362	59	118	CC		KEEP	---	---	---	---	capture			Silent	SNP	9877718	9877718	17353	18	C	T	T	21	21	TXNDC2	T	2	2
TXNDC2	84203	broad.mit.edu	36	18	9877808	9877808	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:9877808C>T	uc002koi.2	+	c.1332C>T	c.(1330-1332)TTC>TTT	p.F444F	TXNDC2_uc002koh.2_Silent_p.F377F|TXNDC2_uc010dky.1_Silent_p.F377F	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	444	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2														0.474227	132.336317	132.392267	46	51	CC		KEEP	---	---	---	---	capture			Silent	SNP	9877808	9877808	17353	18	C	T	T	30	30	TXNDC2	T	2	2
ABCA7	10347	broad.mit.edu	36	19	1004474	1004474	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1004474C>T	uc002lqw.2	+	c.3367C>T	c.(3367-3369)CGG>TGG	p.R1123W	ABCA7_uc010dsb.1_Missense_Mutation_p.R985W	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1123					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)												0.565217	34.262616	34.346229	13	10	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1004474	1004474	38	19	C	T	T	27	27	ABCA7	T	1	1
DNMT1	1786	broad.mit.edu	36	19	10118034	10118034	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10118034T>C	uc002mni.1	-	c.3073A>G	c.(3073-3075)ACG>GCG	p.T1025A	DNMT1_uc002mnf.1_5'Flank|DNMT1_uc002mng.1_Missense_Mutation_p.T947A|DNMT1_uc002mnh.1_Missense_Mutation_p.T842A|DNMT1_uc002mnj.1_Missense_Mutation_p.T1009A	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	947					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)|skin(1)	3					Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)					705				0.380952	144.882386	146.443912	48	78	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Missense_Mutation	SNP	10118034	10118034	4858	19	T	C	C	59	59	DNMT1	C	4	4
DNMT1	1786	broad.mit.edu	36	19	10123178	10123178	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10123178C>T	uc002mni.1	-	c.2347G>A	c.(2347-2349)GTC>ATC	p.V783I	DNMT1_uc002mng.1_Missense_Mutation_p.V705I|DNMT1_uc002mnh.1_Missense_Mutation_p.V600I|DNMT1_uc002mnj.1_Missense_Mutation_p.V767I	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	705					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)|skin(1)	3					Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)					705				0.156126	135.891248	193.025486	79	427	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Missense_Mutation	SNP	10123178	10123178	4858	19	C	T	T	20	20	DNMT1	T	2	2
DNMT1	1786	broad.mit.edu	36	19	10126584	10126584	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10126584G>A	uc002mni.1	-	c.1827C>T	c.(1825-1827)ATC>ATT	p.I609I	DNMT1_uc002mng.1_Silent_p.I531I|DNMT1_uc002mnh.1_Silent_p.I426I|DNMT1_uc002mnj.1_Silent_p.I593I	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	531	DNA replication foci-targeting sequence (By similarity).|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)|skin(1)	3					Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)					705				0.16087	60.944786	86.110778	37	193	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Silent	SNP	10126584	10126584	4858	19	G	A	A	37	37	DNMT1	A	1	1
DNMT1	1786	broad.mit.edu	36	19	10152486	10152486	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10152486C>A	uc002mni.1	-	c.379G>T	c.(379-381)GAA>TAA	p.E127*	DNMT1_uc002mng.1_Nonsense_Mutation_p.E65*|DNMT1_uc002mnh.1_5'UTR|DNMT1_uc002mnj.1_Nonsense_Mutation_p.E127*|DNMT1_uc010dxb.1_5'Flank	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	65	Interaction with DMAP1.|Interaction with DNMT3A.|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)|skin(1)	3					Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)					705				0.155405	30.333563	47.13147	23	125	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Nonsense_Mutation	SNP	10152486	10152486	4858	19	C	A	A	30	30	DNMT1	A	5	3
ICAM4	3386	broad.mit.edu	36	19	10259832	10259832	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10259832C>T	uc002mnr.1	+	c.791C>T	c.(790-792)TCT>TTT	p.S264F	ICAM4_uc002mns.1_3'UTR|ICAM4_uc002mnt.1_3'UTR|ICAM5_uc002mnu.2_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 isoform 3	Error:Variant_position_missing_in_Q14773_after_alignment					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			lung(1)	1														0.314286	61.130728	63.275708	22	48	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		Missense_Mutation	SNP	10259832	10259832	7782	19	C	T	T	32	32	ICAM4	T	2	2
ICAM5	7087	broad.mit.edu	36	19	10266144	10266144	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10266144C>T	uc002mnu.2	+	c.2058C>T	c.(2056-2058)TCC>TCT	p.S686S	ICAM5_uc002mnv.2_Silent_p.S561S	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	686	Extracellular (Potential).|Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)	3														0.2	24.943088	30.381828	13	52	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		Silent	SNP	10266144	10266144	7783	19	C	T	T	23	23	ICAM5	T	1	1
RAVER1	125950	broad.mit.edu	36	19	10289239	10289239	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10289239A>C	uc002moa.1	-	c.2162T>G	c.(2161-2163)CTG>CGG	p.L721R	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc002mnz.2_Missense_Mutation_p.C119G	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	Error:Variant_position_missing_in_Q8IY67_after_alignment						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1														0.156627	18.141166	27.471948	13	70	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		Missense_Mutation	SNP	10289239	10289239	13555	19	A	C	C	7	7	RAVER1	C	4	4
ICAM3	3385	broad.mit.edu	36	19	10307345	10307345	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10307345A>G	uc002mob.2	-	c.649_splice	c.e3+1	p.V217_splice	RAVER1_uc002moa.1_5'Flank|ICAM3_uc010dxd.1_Splice_Site_SNP_p.V140_splice	NM_002162	NP_002153			intercellular adhesion molecule 3 precursor						cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3														0.575	68.132866	68.330911	23	17	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		Splice_Site_SNP	SNP	10307345	10307345	7781	19	A	G	G	6	6	ICAM3	G	5	4
HMHA1	23526	broad.mit.edu	36	19	1031542	1031542	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1031542C>T	uc002lqz.1	+	c.1908C>T	c.(1906-1908)GGC>GGT	p.G636G	HMHA1_uc002lra.1_Silent_p.G476G|HMHA1_uc002lrb.1_Silent_p.G519G|HMHA1_uc002lrc.1_Silent_p.G271G|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	636					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)												0.18797	43.519867	55.630988	25	108	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	1031542	1031542	7532	19	C	T	T	27	27	HMHA1	T	1	1
CDC37	11140	broad.mit.edu	36	19	10363238	10363238	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10363238C>T	uc002mof.1	-	c.1126G>A	c.(1126-1128)GTC>ATC	p.V376I	CDC37_uc002moe.1_Missense_Mutation_p.V331I|CDC37_uc010dxf.1_Missense_Mutation_p.V213I|CDC37_uc002mog.1_Splice_Site_SNP_p.D286_splice|CDC37_uc002moh.1_Missense_Mutation_p.V366I	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	376					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0												OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.565657	451.358028	452.465175	168	129	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	Missense_Mutation	SNP	10363238	10363238	3196	19	C	T	T	17	17	CDC37	T	2	2
CDC37	11140	broad.mit.edu	36	19	10375074	10375074	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10375074G>T	uc002mof.1	-	c.82C>A	c.(82-84)CTC>ATC	p.L28I	CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.L28I|CDC37_uc002moh.1_Missense_Mutation_p.L28I	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	28					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0														0.133333	7.15836	14.99574	8	52	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	Missense_Mutation	SNP	10375074	10375074	3196	19	G	T	T	33	33	CDC37	T	3	3
PDE4A	5141	broad.mit.edu	36	19	10439042	10439042	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10439042C>T	uc002moj.2	+	c.2406C>T	c.(2404-2406)TTC>TTT	p.F802F	PDE4A_uc002mok.2_Silent_p.F776F|PDE4A_uc002mol.2_Silent_p.F741F|PDE4A_uc002mom.2_Silent_p.F563F|PDE4A_uc002mon.2_Silent_p.F257F|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific isoform 1	802					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|central_nervous_system(1)	2					Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)									0.530364	365.594305	365.790491	131	116	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Silent	SNP	10439042	10439042	12060	19	C	T	T	31	31	PDE4A	T	1	1
KRI1	65095	broad.mit.edu	36	19	10529341	10529341	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10529341C>T	uc002moy.1	-	c.1522G>A	c.(1522-1524)GAG>AAG	p.E508K	KRI1_uc002mow.1_Missense_Mutation_p.E127K|KRI1_uc002mox.1_Missense_Mutation_p.E504K	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	508										ovary(1)	1														0.173228	75.947002	101.567816	44	210	CC		KEEP	---	---	---	---	capture	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		Missense_Mutation	SNP	10529341	10529341	8759	19	C	T	T	30	30	KRI1	T	2	2
KRI1	65095	broad.mit.edu	36	19	10533385	10533385	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10533385G>A	uc002moy.1	-	c.464C>T	c.(463-465)TCG>TTG	p.S155L	KRI1_uc002mow.1_5'Flank|KRI1_uc002mox.1_Missense_Mutation_p.S151L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	155	Glu-rich.									ovary(1)	1														0.375321	388.938658	394.251546	146	243	GG		KEEP	---	---	---	---	capture	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		Missense_Mutation	SNP	10533385	10533385	8759	19	G	A	A	37	37	KRI1	A	1	1
AP1M2	10053	broad.mit.edu	36	19	10551435	10551435	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10551435G>T	uc002mpd.1	-	c.779C>A	c.(778-780)CCT>CAT	p.P260H	AP1M2_uc002mpc.1_Missense_Mutation_p.P258H	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	258	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														0.145833	55.758186	90.515173	42	246	GG		KEEP	---	---	---	---	capture	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		Missense_Mutation	SNP	10551435	10551435	745	19	G	T	T	35	35	AP1M2	T	3	3
AP1M2	10053	broad.mit.edu	36	19	10555733	10555733	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10555733C>T	uc002mpd.1	-	c.56G>A	c.(55-57)CGC>CAC	p.R19H	AP1M2_uc002mpc.1_Missense_Mutation_p.R19H	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	19					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														0.434783	27.846069	27.931369	10	13	CC		KEEP	---	---	---	---	capture	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		Missense_Mutation	SNP	10555733	10555733	745	19	C	T	T	27	27	AP1M2	T	1	1
ILF3	3609	broad.mit.edu	36	19	10642744	10642744	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10642744A>C	uc002mpo.1	+	c.98A>C	c.(97-99)AAC>ACC	p.N33T	ILF3_uc002mpk.1_Missense_Mutation_p.N33T|ILF3_uc002mpl.1_Missense_Mutation_p.N33T|ILF3_uc002mpm.1_Missense_Mutation_p.N33T|ILF3_uc002mpn.1_Missense_Mutation_p.N33T	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	33					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding|transcription activator activity|transcription repressor activity			ovary(3)	3														0.506173	134.569992	134.572614	41	40	AA		KEEP	---	---	---	---	capture	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		Missense_Mutation	SNP	10642744	10642744	8013	19	A	C	C	2	2	ILF3	C	4	4
ILF3	3609	broad.mit.edu	36	19	10651562	10651562	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10651562G>A	uc002mpo.1	+	c.818G>A	c.(817-819)CGG>CAG	p.R273Q	ILF3_uc002mpk.1_Missense_Mutation_p.R273Q|ILF3_uc002mpl.1_Missense_Mutation_p.R273Q|ILF3_uc002mpm.1_Missense_Mutation_p.R273Q|ILF3_uc002mpn.1_Missense_Mutation_p.R273Q|ILF3_uc002mpp.2_Missense_Mutation_p.R94Q	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	273	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding|transcription activator activity|transcription repressor activity			ovary(3)	3														0.488189	191.34212	191.357508	62	65	GG		KEEP	---	---	---	---	capture	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		Missense_Mutation	SNP	10651562	10651562	8013	19	G	A	A	39	39	ILF3	A	1	1
SBNO2	22904	broad.mit.edu	36	19	1067026	1067026	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1067026G>A	uc002lrk.2	-	c.1879C>T	c.(1879-1881)CGG>TGG	p.R627W	SBNO2_uc002lrj.2_Missense_Mutation_p.R570W|SBNO2_uc010dse.1_Missense_Mutation_p.R610W|SBNO2_uc010dsf.1_Missense_Mutation_p.R570W	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	627					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent		transcription repressor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)												0.185714	24.136466	30.616789	13	57	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1067026	1067026	14344	19	G	A	A	38	38	SBNO2	A	1	1
QTRT1	81890	broad.mit.edu	36	19	10684481	10684481	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10684481G>T	uc002mpr.1	+	c.909G>T	c.(907-909)AAG>AAT	p.K303N	DNM2_uc010dxk.1_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	303					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity				0														0.167053	105.282863	150.646892	72	359	GG		KEEP	---	---	---	---	capture	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		Missense_Mutation	SNP	10684481	10684481	13343	19	G	T	T	33	33	QTRT1	T	3	3
DNM2	1785	broad.mit.edu	36	19	10744264	10744264	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10744264C>A	uc002mps.1	+	c.345C>A	c.(343-345)ATC>ATA	p.I115I	DNM2_uc010dxk.1_Non-coding_Transcript|DNM2_uc002mpt.1_Silent_p.I115I|DNM2_uc002mpu.1_Silent_p.I115I|DNM2_uc002mpv.1_Silent_p.I115I|DNM2_uc010dxl.1_Silent_p.I115I	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	115					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|post-Golgi vesicle-mediated transport|receptor internalization|regulation of transcription, DNA-dependent|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding|motor activity|transcription activator activity			central_nervous_system(2)|ovary(1)|breast(1)	4														0.171975	42.518339	58.498509	27	130	CC		KEEP	---	---	---	---	capture	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		Silent	SNP	10744264	10744264	4855	19	C	A	A	32	32	DNM2	A	3	3
SBNO2	22904	broad.mit.edu	36	19	1074540	1074540	+	Silent	SNP	C	T	T	rs10427097	by-cluster,by-frequency,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1074540C>T	uc002lrk.2	-	c.621G>A	c.(619-621)CCG>CCA	p.P207P	SBNO2_uc002lrj.2_Silent_p.P150P|SBNO2_uc010dse.1_Silent_p.P200P|SBNO2_uc010dsf.1_Silent_p.P150P	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	207					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent		transcription repressor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)												0.19	33.790251	42.762726	19	81	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	1074540	1074540	14344	19	C	T	T	19	19	SBNO2	T	1	1
DNM2	1785	broad.mit.edu	36	19	10802703	10802703	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10802703G>A	uc002mps.1	+	c.2593G>A	c.(2593-2595)GAG>AAG	p.E865K	DNM2_uc010dxk.1_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.E865K|DNM2_uc002mpu.1_Missense_Mutation_p.E861K|DNM2_uc002mpv.1_Missense_Mutation_p.E861K|DNM2_uc010dxl.1_Missense_Mutation_p.E864K|DNM2_uc002mpw.1_Missense_Mutation_p.E529K|DNM2_uc002mpx.1_Intron	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	865	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|post-Golgi vesicle-mediated transport|receptor internalization|regulation of transcription, DNA-dependent|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding|motor activity|transcription activator activity			central_nervous_system(2)|ovary(1)|breast(1)	4														0.372549	47.911885	48.639242	19	32	GG		KEEP	---	---	---	---	capture	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		Missense_Mutation	SNP	10802703	10802703	4855	19	G	A	A	37	37	DNM2	A	1	1
TMED1	11018	broad.mit.edu	36	19	10807024	10807024	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10807024G>A	uc002mpy.1	-	c.189C>T	c.(187-189)ATC>ATT	p.I63I		NM_006858	NP_006849	Q13445	TMED1_HUMAN	interleukin 1 receptor-like 1 ligand precursor	63	GOLD.|Extracellular (Potential).				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.15859	55.043606	80.280876	36	191	GG		KEEP	---	---	---	---	capture			Silent	SNP	10807024	10807024	16532	19	G	A	A	37	37	TMED1	A	1	1
CARM1	10498	broad.mit.edu	36	19	10876663	10876663	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10876663G>A	uc002mpz.1	+	c.257G>A	c.(256-258)CGA>CAA	p.R86Q	CARM1_uc010dxn.1_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	86					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|promoter binding|protein-arginine omega-N asymmetric methyltransferase activity				0														0.168142	63.737212	87.298299	38	188	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10876663	10876663	2774	19	G	A	A	37	37	CARM1	A	1	1
CARM1	10498	broad.mit.edu	36	19	10885627	10885627	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10885627C>A	uc002mpz.1	+	c.744C>A	c.(742-744)CCC>CCA	p.P248P	CARM1_uc010dxn.1_Non-coding_Transcript|CARM1_uc002mqa.1_Silent_p.P31P	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	248					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|promoter binding|protein-arginine omega-N asymmetric methyltransferase activity				0														0.134454	24.133499	39.540584	16	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	10885627	10885627	2774	19	C	A	A	23	23	CARM1	A	3	3
SMARCA4	6597	broad.mit.edu	36	19	10960999	10960999	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10960999G>T	uc010dxo.1	+	c.1125G>T	c.(1123-1125)CAG>CAT	p.Q375H	SMARCA4_uc002mqf.2_Missense_Mutation_p.Q375H|SMARCA4_uc010dxp.1_Missense_Mutation_p.Q375H|SMARCA4_uc010dxq.1_Missense_Mutation_p.Q375H|SMARCA4_uc010dxr.1_Missense_Mutation_p.Q375H|SMARCA4_uc002mqj.2_Missense_Mutation_p.Q375H|SMARCA4_uc010dxs.1_Missense_Mutation_p.Q375H|SMARCA4_uc002mqe.2_Missense_Mutation_p.Q375H|SMARCA4_uc002mqg.1_Missense_Mutation_p.Q375H	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	375					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|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 activator activity|transcription corepressor activity	p.?(1)		lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)								582				0.337539	274.311128	281.71869	107	210	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10960999	10960999	15268	19	G	T	T	35	35	SMARCA4	T	3	3
SMARCA4	6597	broad.mit.edu	36	19	10996027	10996027	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10996027C>T	uc010dxo.1	+	c.2994C>T	c.(2992-2994)TGC>TGT	p.C998C	SMARCA4_uc002mqf.2_Silent_p.C998C|SMARCA4_uc010dxp.1_Silent_p.C998C|SMARCA4_uc010dxq.1_Silent_p.C998C|SMARCA4_uc010dxr.1_Silent_p.C998C|SMARCA4_uc002mqj.2_Silent_p.C998C|SMARCA4_uc010dxs.1_Silent_p.C998C|SMARCA4_uc002mqh.2_Silent_p.C121C|SMARCA4_uc002mqg.1_Silent_p.C998C|SMARCA4_uc010dxt.1_Silent_p.C218C|SMARCA4_uc002mqi.1_Silent_p.C201C	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	998					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|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 activator activity|transcription corepressor activity	p.?(1)		lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)							p.C998C(NCIH1048-Tumor)	582				0.191358	53.760621	68.166711	31	131	CC		KEEP	---	---	---	---	capture			Silent	SNP	10996027	10996027	15268	19	C	T	T	27	27	SMARCA4	T	1	1
SMARCA4	6597	broad.mit.edu	36	19	11030474	11030474	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11030474G>A	uc010dxo.1	+	c.4640G>A	c.(4639-4641)CGC>CAC	p.R1547H	SMARCA4_uc002mqf.2_Missense_Mutation_p.R1515H|SMARCA4_uc010dxp.1_Missense_Mutation_p.R1515H|SMARCA4_uc010dxq.1_Missense_Mutation_p.R1482H|SMARCA4_uc010dxr.1_Missense_Mutation_p.R1481H|SMARCA4_uc002mqj.2_Missense_Mutation_p.R1485H|SMARCA4_uc010dxs.1_Missense_Mutation_p.R1484H|SMARCA4_uc002mqh.2_Missense_Mutation_p.R605H	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1515	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|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 activator activity|transcription corepressor activity			lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)							p.R1547H(SNU1040-Tumor)	582				0.157895	31.492383	46.338657	21	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11030474	11030474	15268	19	G	A	A	38	38	SMARCA4	A	1	1
SPC24	147841	broad.mit.edu	36	19	11118952	11118952	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11118952G>A	uc002mql.2	-	c.501C>T	c.(499-501)CCC>CCT	p.P167P		NM_182513	NP_872319	Q8NBT2	SPC24_HUMAN	spindle pole body component 24 homolog	167	Interaction with the C-terminus of SPBC25.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding				0														0.666667	25.602875	25.897706	8	4	GG		KEEP	---	---	---	---	capture			Silent	SNP	11118952	11118952	15531	19	G	A	A	47	47	SPC24	A	2	2
KANK2	25959	broad.mit.edu	36	19	11141556	11141556	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11141556G>A	uc002mqm.1	-	c.2523C>T	c.(2521-2523)TGC>TGT	p.C841C	KANK2_uc010dxv.1_Silent_p.C833C|KANK2_uc002mqo.2_Silent_p.C833C|KANK2_uc002mqp.1_Silent_p.C642C	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25	833	ANK 5.										0														0.435185	141.706969	142.102908	47	61	GG		KEEP	---	---	---	---	capture			Silent	SNP	11141556	11141556	8281	19	G	A	A	34	34	KANK2	A	2	2
KANK2	25959	broad.mit.edu	36	19	11165597	11165597	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11165597G>A	uc002mqm.1	-	c.159C>T	c.(157-159)ATC>ATT	p.I53I	KANK2_uc010dxv.1_Silent_p.I53I|KANK2_uc002mqo.2_Silent_p.I53I|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.2_Silent_p.I53I	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25	53											0														0.233161	95.598938	108.168562	45	148	GG		KEEP	---	---	---	---	capture			Silent	SNP	11165597	11165597	8281	19	G	A	A	37	37	KANK2	A	1	1
DOCK6	57572	broad.mit.edu	36	19	11172403	11172403	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11172403G>A	uc002mqs.2	-	c.5928C>T	c.(5926-5928)GAC>GAT	p.D1976D	KANK2_uc002mqq.2_5'Flank|DOCK6_uc002mqr.2_Silent_p.D376D	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1976	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3														0.344828	54.475642	55.712073	20	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	11172403	11172403	4875	19	G	A	A	36	36	DOCK6	A	2	2
DOCK6	57572	broad.mit.edu	36	19	11180453	11180453	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11180453G>A	uc002mqs.2	-	c.4997C>T	c.(4996-4998)TCG>TTG	p.S1666L	DOCK6_uc002mqr.2_Missense_Mutation_p.S64L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1666	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3														0.35	123.819527	126.604362	49	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11180453	11180453	4875	19	G	A	A	37	37	DOCK6	A	1	1
DOCK6	57572	broad.mit.edu	36	19	11194445	11194445	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11194445G>A	uc002mqs.2	-	c.3206C>T	c.(3205-3207)TCG>TTG	p.S1069L		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1069					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3														0.266667	9.093095	9.831028	4	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11194445	11194445	4875	19	G	A	A	37	37	DOCK6	A	1	1
DOCK6	57572	broad.mit.edu	36	19	11200660	11200660	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11200660G>A	uc002mqs.2	-	c.2770C>T	c.(2770-2772)CGC>TGC	p.R924C		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	924					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3														0.223301	47.471848	54.723965	23	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11200660	11200660	4875	19	G	A	A	40	40	DOCK6	A	1	1
LOC55908	55908	broad.mit.edu	36	19	11211469	11211469	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11211469G>A	uc010dxx.1	+	c.315G>A	c.(313-315)GTG>GTA	p.V105V	DOCK6_uc002mqs.2_Intron|LOC55908_uc010dxw.1_Intron	NM_018687	NP_061157	Q6UXH0	TD26_HUMAN	hepatocellular carcinoma-associated gene TD26	52						extracellular region					0														0.162162	8.122847	12.144742	6	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	11211469	11211469	9237	19	G	A	A	48	48	LOC55908	A	2	2
CCDC159	126075	broad.mit.edu	36	19	11320778	11320778	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11320778G>A	uc002mrd.1	+	c.159G>A	c.(157-159)TCG>TCA	p.S53S	TMEM205_uc002mra.1_5'Flank|TMEM205_uc002mrb.1_5'Flank|TMEM205_uc002mrc.1_5'Flank	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	coiled-coil domain-containing-like	91										ovary(1)	1														0.307692	28.381503	29.669761	12	27	GG		KEEP	---	---	---	---	capture			Silent	SNP	11320778	11320778	2913	19	G	A	A	38	38	CCDC159	A	1	1
RGL3	57139	broad.mit.edu	36	19	11366124	11366124	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11366124C>T	uc002mrp.1	-	c.2087G>A	c.(2086-2088)CGG>CAG	p.R696Q	RGL3_uc002mrm.1_Intron|RGL3_uc002mrn.1_Intron|RGL3_uc002mro.1_Non-coding_Transcript	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	696	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						GBM(174;751 2067 17998 27979 33959)				120				0.195122	62.308887	76.524402	32	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11366124	11366124	13751	19	C	T	T	23	23	RGL3	T	1	1
CCDC151	115948	broad.mit.edu	36	19	11398558	11398558	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11398558G>A	uc002mrs.1	-	c.659C>T	c.(658-660)GCG>GTG	p.A220V	CCDC151_uc010dxz.1_Intron|CCDC151_uc002mrr.1_Missense_Mutation_p.A155V	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	220	Potential.									ovary(1)	1														0.223529	38.491857	44.461972	19	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11398558	11398558	2906	19	G	A	A	38	38	CCDC151	A	1	1
ELAVL3	1995	broad.mit.edu	36	19	11426602	11426602	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11426602G>A	uc002mry.1	-	c.843C>T	c.(841-843)GGC>GGT	p.G281G	ELAVL3_uc002mrx.1_Silent_p.G274G	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	281					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)	2														0.331818	174.218286	179.722917	73	147	GG		KEEP	---	---	---	---	capture			Silent	SNP	11426602	11426602	5242	19	G	A	A	38	38	ELAVL3	A	1	1
ELAVL3	1995	broad.mit.edu	36	19	11429915	11429915	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11429915C>T	uc002mry.1	-	c.674G>A	c.(673-675)CGC>CAC	p.R225H	ELAVL3_uc002mrx.1_Missense_Mutation_p.R225H	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	225					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)	2														0.530864	243.442336	243.575784	86	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11429915	11429915	5242	19	C	T	T	27	27	ELAVL3	T	1	1
ECSIT	51295	broad.mit.edu	36	19	11479810	11479810	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11479810G>A	uc002msb.1	-	c.792C>T	c.(790-792)ATC>ATT	p.I264I	ZNF653_uc002mrz.1_5'Flank|ECSIT_uc002msa.1_Non-coding_Transcript|ECSIT_uc010dyc.1_Silent_p.I264I|ECSIT_uc010dyd.1_Silent_p.I264I	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	264					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1														0.434043	280.203622	281.095478	102	133	GG		KEEP	---	---	---	---	capture			Silent	SNP	11479810	11479810	5087	19	G	A	A	37	37	ECSIT	A	1	1
ACP5	54	broad.mit.edu	36	19	11546838	11546838	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11546838C>T	uc002msg.2	-	c.965G>A	c.(964-966)CGA>CAA	p.R322Q	ACP5_uc002msh.2_Missense_Mutation_p.R322Q|ACP5_uc002msi.2_Missense_Mutation_p.R322Q|ACP5_uc002msj.2_Missense_Mutation_p.R322Q	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	322					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1														0.176991	33.621521	44.751592	20	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11546838	11546838	165	19	C	T	T	31	31	ACP5	T	1	1
ACP5	54	broad.mit.edu	36	19	11548916	11548916	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11548916A>C	uc002msg.2	-	c.217T>G	c.(217-219)TTT>GTT	p.F73V	ACP5_uc002msh.2_Missense_Mutation_p.F73V|ACP5_uc002msi.2_Missense_Mutation_p.F73V|ACP5_uc002msj.2_Missense_Mutation_p.F73V|ACP5_uc010dye.1_Missense_Mutation_p.F73V	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	73					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1														0.242236	110.353071	120.101091	39	122	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11548916	11548916	165	19	A	C	C	1	1	ACP5	C	4	4
ZNF627	199692	broad.mit.edu	36	19	11586413	11586413	+	Missense_Mutation	SNP	G	T	T	rs12151212	by-1000genomes	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11586413G>T	uc002msk.1	+	c.75G>T	c.(73-75)CAG>CAT	p.Q25H	ZNF627_uc010dyf.1_5'UTR	NM_145295	NP_660338	Q7L945	ZN627_HUMAN	zinc finger protein 627	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						Melanoma(112;173 1614 10731 17751 23322)								0.522124	487.830568	487.972155	177	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11586413	11586413	18646	19	G	T	T	33	33	ZNF627	T	3	3
ZNF627	199692	broad.mit.edu	36	19	11589587	11589587	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11589587A>T	uc002msk.1	+	c.1269A>T	c.(1267-1269)CAA>CAT	p.Q423H	ZNF627_uc010dyf.1_Missense_Mutation_p.Q313H	NM_145295	NP_660338	Q7L945	ZN627_HUMAN	zinc finger protein 627	423	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						Melanoma(112;173 1614 10731 17751 23322)								0.173077	66.574288	87.569348	36	172	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11589587	11589587	18646	19	A	T	T	4	4	ZNF627	T	4	4
ZNF823	55552	broad.mit.edu	36	19	11693822	11693822	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11693822A>G	uc002msm.2	-	c.1527T>C	c.(1525-1527)AGT>AGC	p.S509S	ZNF823_uc010dyi.1_Silent_p.S465S	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	509	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.431111	320.927604	321.859881	97	128	AA		KEEP	---	---	---	---	capture			Silent	SNP	11693822	11693822	18777	19	A	G	G	10	10	ZNF823	G	4	4
ZNF823	55552	broad.mit.edu	36	19	11694609	11694609	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11694609G>A	uc002msm.2	-	c.740C>T	c.(739-741)GCG>GTG	p.A247V	ZNF823_uc010dyi.1_Missense_Mutation_p.A203V	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.182109	102.001108	131.71037	57	256	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11694609	11694609	18777	19	G	A	A	38	38	ZNF823	A	1	1
ZNF441	126068	broad.mit.edu	36	19	11753124	11753124	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11753124A>C	uc010dyj.1	+	c.1485A>C	c.(1483-1485)ATA>ATC	p.I495I	ZNF441_uc002msn.2_Silent_p.I451I|ZNF441_uc010dyk.1_Silent_p.I428I	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	495	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.151703	104.699325	142.18557	49	274	AA		KEEP	---	---	---	---	capture			Silent	SNP	11753124	11753124	18507	19	A	C	C	13	13	ZNF441	C	4	4
ZNF441	126068	broad.mit.edu	36	19	11753251	11753251	+	Nonsense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11753251A>T	uc010dyj.1	+	c.1612A>T	c.(1612-1614)AAA>TAA	p.K538*	ZNF441_uc002msn.2_Nonsense_Mutation_p.K494*|ZNF441_uc010dyk.1_Nonsense_Mutation_p.K471*	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	538	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.194631	53.488917	66.453157	29	120	AA		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	11753251	11753251	18507	19	A	T	T	9	9	ZNF441	T	5	4
ZNF491	126069	broad.mit.edu	36	19	11778346	11778346	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11778346G>A	uc002mso.1	+	c.578G>A	c.(577-579)GGG>GAG	p.G193E	ZNF491_uc010dyl.1_Missense_Mutation_p.G193E	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	193	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.18543	60.832095	74.823162	28	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11778346	11778346	18536	19	G	A	A	43	43	ZNF491	A	2	2
ZNF439	90594	broad.mit.edu	36	19	11839657	11839657	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11839657G>A	uc002mss.1	+	c.773G>A	c.(772-774)CGA>CAA	p.R258Q	ZNF439_uc002msr.1_Missense_Mutation_p.R122Q	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	258	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.551471	444.556171	445.181736	150	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11839657	11839657	18504	19	G	A	A	37	37	ZNF439	A	1	1
ZNF439	90594	broad.mit.edu	36	19	11840195	11840195	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11840195G>A	uc002mss.1	+	c.1311G>A	c.(1309-1311)CCG>CCA	p.P437P	ZNF439_uc002msr.1_Silent_p.P301P	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.427746	201.115742	201.904106	74	99	GG		KEEP	---	---	---	---	capture			Silent	SNP	11840195	11840195	18504	19	G	A	A	40	40	ZNF439	A	1	1
ZNF69	7620	broad.mit.edu	36	19	11875489	11875489	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11875489A>C	uc002mst.2	+	c.123A>C	c.(121-123)GAA>GAC	p.E41D		NM_021915	NP_068734	Q9UC07	ZNF69_HUMAN	zinc finger protein 69	55	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.310811	283.010496	292.435572	92	204	AA		KEEP	---	---	---	---	capture		Lung(535;0.011)	Missense_Mutation	SNP	11875489	11875489	18690	19	A	C	C	1	1	ZNF69	C	4	4
ZNF700	90592	broad.mit.edu	36	19	11920468	11920468	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11920468G>A	uc002msu.1	+	c.629G>A	c.(628-630)CGA>CAA	p.R210Q		NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	210	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.339181	309.588513	317.411697	116	226	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11920468	11920468	18699	19	G	A	A	37	37	ZNF700	A	1	1
ZNF700	90592	broad.mit.edu	36	19	11920904	11920904	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11920904G>T	uc002msu.1	+	c.1065G>T	c.(1063-1065)ATG>ATT	p.M355I		NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.149485	41.180616	64.0209	29	165	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11920904	11920904	18699	19	G	T	T	45	45	ZNF700	T	3	3
ZNF700	90592	broad.mit.edu	36	19	11921056	11921056	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11921056G>A	uc002msu.1	+	c.1217G>A	c.(1216-1218)CGA>CAA	p.R406Q		NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	406	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.34715	174.160277	178.143337	67	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11921056	11921056	18699	19	G	A	A	37	37	ZNF700	A	1	1
ZNF763	284390	broad.mit.edu	36	19	11948927	11948927	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11948927G>A	uc002msv.1	+	c.87G>A	c.(85-87)AGG>AGA	p.R29R	ZNF763_uc002msw.1_Silent_p.R26R	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN	zinc finger protein 440 like	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.36019	414.150707	421.42534	152	270	GG		KEEP	---	---	---	---	capture			Silent	SNP	11948927	11948927	18735	19	G	A	A	41	41	ZNF763	A	2	2
ZNF763	284390	broad.mit.edu	36	19	11950786	11950786	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11950786C>T	uc002msv.1	+	c.1056C>T	c.(1054-1056)TTC>TTT	p.F352F	ZNF763_uc002msw.1_Silent_p.F349F	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN	zinc finger protein 440 like	349	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.208754	126.86562	150.211795	62	235	CC		KEEP	---	---	---	---	capture			Silent	SNP	11950786	11950786	18735	19	C	T	T	29	29	ZNF763	T	2	2
ZNF433	163059	broad.mit.edu	36	19	11986884	11986884	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11986884C>T	uc002msy.1	-	c.1798G>A	c.(1798-1800)GGA>AGA	p.G600R	ZNF433_uc002msz.1_Missense_Mutation_p.G565R	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	600	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.171429	105.159366	137.30701	54	261	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11986884	11986884	18500	19	C	T	T	21	21	ZNF433	T	2	2
ZNF878	729747	broad.mit.edu	36	19	12015666	12015666	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12015666C>A	uc002mta.1	-	c.1691G>T	c.(1690-1692)AGA>ATA	p.R564I		NM_001080404	NP_001073873			similar to zinc finger protein 709												0														0.288	84.136537	89.182676	36	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12015666	12015666	18799	19	C	A	A	32	32	ZNF878	A	3	3
ZNF878	729747	broad.mit.edu	36	19	12015972	12015972	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12015972C>T	uc002mta.1	-	c.1385G>A	c.(1384-1386)CGA>CAA	p.R462Q		NM_001080404	NP_001073873			similar to zinc finger protein 709												0														0.362245	188.45668	191.735431	71	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12015972	12015972	18799	19	C	T	T	31	31	ZNF878	T	1	1
ZNF878	729747	broad.mit.edu	36	19	12016886	12016886	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12016886G>A	uc002mta.1	-	c.471C>T	c.(469-471)ATC>ATT	p.I157I		NM_001080404	NP_001073873			similar to zinc finger protein 709												0														0.606742	159.35547	160.240983	54	35	GG		KEEP	---	---	---	---	capture			Silent	SNP	12016886	12016886	18799	19	G	A	A	37	37	ZNF878	A	1	1
ZNF878	729747	broad.mit.edu	36	19	12018571	12018571	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12018571G>A	uc002mta.1	-	c.149C>T	c.(148-150)TCG>TTG	p.S50L		NM_001080404	NP_001073873			similar to zinc finger protein 709												0														0.144444	54.931523	87.808351	39	231	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12018571	12018571	18799	19	G	A	A	37	37	ZNF878	A	1	1
ZNF20	7568	broad.mit.edu	36	19	12104962	12104962	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12104962C>T	uc002mtf.1	-	c.1039G>A	c.(1039-1041)GCC>ACC	p.A347T	ZNF20_uc002mte.1_Missense_Mutation_p.A312T|ZNF20_uc002mtg.1_Missense_Mutation_p.A347T	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	347	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.178082	70.178967	91.563176	39	180	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12104962	12104962	18352	19	C	T	T	28	28	ZNF20	T	2	2
ZNF625	90589	broad.mit.edu	36	19	12117275	12117275	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12117275C>T	uc010dyo.1	-	c.860G>A	c.(859-861)CGA>CAA	p.R287Q	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_Non-coding_Transcript|ZNF625_uc002mth.1_Missense_Mutation_p.R253Q|ZNF625_uc010dyp.1_Missense_Mutation_p.R253Q	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	253	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.375622	411.216293	416.67826	151	251	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12117275	12117275	18644	19	C	T	T	31	31	ZNF625	T	1	1
ZNF136	7695	broad.mit.edu	36	19	12158911	12158911	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12158911C>T	uc002mti.1	+	c.718C>T	c.(718-720)CGA>TGA	p.R240*		NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	240	C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|specific RNA polymerase II transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.190476	86.266205	106.958009	44	187	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	12158911	12158911	18317	19	C	T	T	31	31	ZNF136	T	5	1
ZNF136	7695	broad.mit.edu	36	19	12159667	12159667	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12159667C>T	uc002mti.1	+	c.1474C>T	c.(1474-1476)CGA>TGA	p.R492*		NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	492	C2H2-type 13.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|specific RNA polymerase II transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.596899	231.588257	232.64577	77	52	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	12159667	12159667	18317	19	C	T	T	31	31	ZNF136	T	5	1
ZNF44	51710	broad.mit.edu	36	19	12244592	12244592	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12244592C>T	uc010dys.1	-	c.1478G>A	c.(1477-1479)CGC>CAC	p.R493H	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc002mtn.2_Non-coding_Transcript	NM_016264	NP_057348	P15621	ZNF44_HUMAN	zinc finger protein 44	541	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)												0.206897	93.668594	112.14827	48	184	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	Missense_Mutation	SNP	12244592	12244592	18505	19	C	T	T	27	27	ZNF44	T	1	1
ZNF44	51710	broad.mit.edu	36	19	12244841	12244841	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12244841C>A	uc010dys.1	-	c.1229G>T	c.(1228-1230)AGA>ATA	p.R410I	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc002mtn.2_Non-coding_Transcript	NM_016264	NP_057348	P15621	ZNF44_HUMAN	zinc finger protein 44	458	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)												0.224852	78.248473	90.016962	38	131	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	Missense_Mutation	SNP	12244841	12244841	18505	19	C	A	A	32	32	ZNF44	A	3	3
ZNF442	79973	broad.mit.edu	36	19	12321708	12321708	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12321708C>A	uc002mtr.1	-	c.1691G>T	c.(1690-1692)AGA>ATA	p.R564I		NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	564	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|kidney(1)	3														0.40273	306.849211	309.283639	118	175	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12321708	12321708	18508	19	C	A	A	32	32	ZNF442	A	3	3
ZNF442	79973	broad.mit.edu	36	19	12322964	12322964	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12322964A>G	uc002mtr.1	-	c.435T>C	c.(433-435)TGT>TGC	p.C145C		NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|kidney(1)	3														0.144809	99.775852	144.171046	53	313	AA		KEEP	---	---	---	---	capture			Silent	SNP	12322964	12322964	18508	19	A	G	G	10	10	ZNF442	G	4	4
ZNF799	90576	broad.mit.edu	36	19	12363309	12363309	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12363309T>C	uc010dyt.1	-	c.903A>G	c.(901-903)ACA>ACG	p.T301T	ZNF799_uc002mts.2_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	301	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)	5														0.176471	181.772604	233.763964	93	434	TT		KEEP	---	---	---	---	capture			Silent	SNP	12363309	12363309	18764	19	T	C	C	63	63	ZNF799	C	4	4
ZNF709	163051	broad.mit.edu	36	19	12436345	12436345	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12436345C>T	uc002mtv.2	-	c.1391G>A	c.(1390-1392)CGA>CAA	p.R464Q	ZNF709_uc002mtw.2_Missense_Mutation_p.R432Q|ZNF709_uc002mtx.2_Missense_Mutation_p.R464Q	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709	464	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GBM(33;565 669 12371 29134 51667)								0.15991	115.433383	164.353963	71	373	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12436345	12436345	18709	19	C	T	T	31	31	ZNF709	T	1	1
ZNF564	163050	broad.mit.edu	36	19	12499277	12499277	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12499277A>G	uc002mty.1	-	c.645T>C	c.(643-645)CAT>CAC	p.H215H	ZNF709_uc002mtx.2_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	215	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.518182	523.711139	523.805691	171	159	AA		KEEP	---	---	---	---	capture			Silent	SNP	12499277	12499277	18590	19	A	G	G	8	8	ZNF564	G	4	4
FBXW9	84261	broad.mit.edu	36	19	12668113	12668113	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12668113C>T	uc010dyx.1	-	c.283G>A	c.(283-285)GAC>AAC	p.D95N	FBXW9_uc002mum.1_Missense_Mutation_p.D95N|FBXW9_uc002mun.1_5'UTR	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	95	F-box.						protein binding			ovary(1)	1														0.47619	27.24578	27.256287	10	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12668113	12668113	6008	19	C	T	T	30	30	FBXW9	T	2	2
HOOK2	29911	broad.mit.edu	36	19	12739718	12739718	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12739718C>T	uc002muy.2	-	c.1216_splice	c.e13-1	p.R406_splice	HOOK2_uc002muz.2_Splice_Site_SNP_p.R406_splice	NM_013312	NP_037444			hook homolog 2 isoform 1						early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)	2														0.141844	24.798227	42.259659	20	121	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	12739718	12739718	7575	19	C	T	T	28	28	HOOK2	T	5	2
PRDX2	7001	broad.mit.edu	36	19	12772042	12772042	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12772042C>A	uc002mvd.1	-	c.329G>T	c.(328-330)CGC>CTC	p.R110L		NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	110	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|oxidation-reduction process|removal of superoxide radicals		thioredoxin peroxidase activity				0														0.32069	247.458925	255.750144	93	197	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12772042	12772042	12908	19	C	A	A	27	27	PRDX2	A	3	3
RNASEH2A	10535	broad.mit.edu	36	19	12785237	12785237	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12785237G>A	uc002mvg.1	+	c.857G>A	c.(856-858)CGA>CAA	p.R286Q	RNASEH2A_uc002mvf.1_Missense_Mutation_p.R204Q	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	286					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3														0.587302	326.628904	327.883799	111	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12785237	12785237	13889	19	G	A	A	37	37	RNASEH2A	A	1	1
RTBDN	83546	broad.mit.edu	36	19	12800509	12800509	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12800509G>A	uc002mvj.1	-	c.423C>T	c.(421-423)CGC>CGT	p.R141R	RTBDN_uc002mvh.1_Silent_p.R141R|RTBDN_uc002mvi.1_Silent_p.R109R	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	retbindin isoform 2	109						extracellular region					0														0.293413	105.328365	111.709607	49	118	GG		KEEP	---	---	---	---	capture			Silent	SNP	12800509	12800509	14197	19	G	A	A	42	42	RTBDN	A	2	2
MAST1	22983	broad.mit.edu	36	19	12837829	12837829	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12837829C>T	uc002mvm.1	+	c.1942C>T	c.(1942-1944)CGA>TGA	p.R648*		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	648	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade|protein phosphorylation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7										239				0.384615	144.389158	146.058017	55	88	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	12837829	12837829	9708	19	C	T	T	31	31	MAST1	T	5	1
MAST1	22983	broad.mit.edu	36	19	12845445	12845445	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12845445C>A	uc002mvm.1	+	c.3474C>A	c.(3472-3474)TCC>TCA	p.S1158S		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1158					cytoskeleton organization|intracellular protein kinase cascade|protein phosphorylation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7										239				0.342105	29.654216	30.495566	13	25	CC		KEEP	---	---	---	---	capture			Silent	SNP	12845445	12845445	9708	19	C	A	A	22	22	MAST1	A	3	3
DNASE2	1777	broad.mit.edu	36	19	12850488	12850488	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12850488C>A	uc002mvn.1	-	c.507G>T	c.(505-507)AAG>AAT	p.K169N		NM_001375	NP_001366	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal precursor	169				Missing (in Ref. 8; AAB51172).	apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding				0														0.646341	150.577426	152.119992	53	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12850488	12850488	4847	19	C	A	A	32	32	DNASE2	A	3	3
KLF1	10661	broad.mit.edu	36	19	12856769	12856769	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12856769C>T	uc002mvo.1	-	c.1019G>A	c.(1018-1020)CGC>CAC	p.R340H		NM_006563	NP_006554	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	340	C2H2-type 3.				erythrocyte differentiation|positive regulation of gene-specific transcription	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Hepatocellular(1079;0.137)												0.169312	50.498546	70.057922	32	157	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	12856769	12856769	8649	19	C	T	T	27	27	KLF1	T	1	1
SYCE2	256126	broad.mit.edu	36	19	12871848	12871848	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12871848G>A	uc002mvr.2	-	c.582C>T	c.(580-582)TTC>TTT	p.F194F		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	194					cell division|meiotic prophase I	central element					0														0.347826	60.272662	61.685606	24	45	GG		KEEP	---	---	---	---	capture			Silent	SNP	12871848	12871848	15950	19	G	A	A	37	37	SYCE2	A	1	1
RAD23A	5886	broad.mit.edu	36	19	12921138	12921138	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12921138C>T	uc002mvw.1	+	c.729C>T	c.(727-729)AAC>AAT	p.N243N	RAD23A_uc002mvx.1_Silent_p.N242N|RAD23A_uc002mvy.1_Silent_p.N77N|RAD23A_uc002mvz.1_Silent_p.N242N|RAD23A_uc002mwa.1_Silent_p.N243N	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	243					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1														0.552511	335.151193	335.672499	121	98	CC		KEEP	---	---	---	---	capture			Silent	SNP	12921138	12921138	13442	19	C	T	T	17	17	RAD23A	T	2	2
RAD23A	5886	broad.mit.edu	36	19	12924818	12924818	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12924818C>A	uc002mvw.1	+	c.1047C>A	c.(1045-1047)AAC>AAA	p.N349K	RAD23A_uc002mvx.1_Missense_Mutation_p.N337K|RAD23A_uc002mvy.1_Missense_Mutation_p.N183K|RAD23A_uc002mvz.1_Missense_Mutation_p.N348K|RAD23A_uc002mwa.1_Missense_Mutation_p.N294K	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	349	UBA 2.|HIV-1 vpr binding.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1														0.151724	68.291013	102.001112	44	246	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12924818	12924818	13442	19	C	A	A	20	20	RAD23A	A	3	3
DAND5	199699	broad.mit.edu	36	19	12945239	12945239	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12945239C>T	uc002mwc.1	+	c.361C>T	c.(361-363)CGA>TGA	p.R121*	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	dante precursor	121	CTCK.					extracellular region				ovary(1)	1														0.171756	87.760814	114.40425	45	217	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)		Nonsense_Mutation	SNP	12945239	12945239	4397	19	C	T	T	23	23	DAND5	T	5	1
MUM1	84939	broad.mit.edu	36	19	1308048	1308048	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1308048G>T	uc002lsa.1	+	c.101G>T	c.(100-102)AGA>ATA	p.R34I	MUM1_uc002lrz.1_Missense_Mutation_p.R33I|MUM1_uc010dsi.1_5'UTR|MUM1_uc002lsb.1_5'UTR|MUM1_uc002lsc.1_5'Flank	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN	melanoma ubiquitous mutated protein	33					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding				0		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;0.000172)|Hepatocellular(1079;0.137)												0.467949	202.647583	202.788188	73	83	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1308048	1308048	10379	19	G	T	T	33	33	MUM1	T	3	3
TRMT1	55621	broad.mit.edu	36	19	13081781	13081781	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13081781C>T	uc002mwj.1	-	c.1054G>A	c.(1054-1056)GGG>AGG	p.G352R	TRMT1_uc002mwk.1_Intron|TRMT1_uc002mwl.2_Missense_Mutation_p.G352R	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	TRM1 tRNA methyltransferase 1 isoform 1	352							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.155844	52.488506	78.608172	36	195	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	Missense_Mutation	SNP	13081781	13081781	17111	19	C	T	T	23	23	TRMT1	T	1	1
CACNA1A	773	broad.mit.edu	36	19	13196498	13196498	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13196498T>C	uc010dzd.1	-	c.5732A>G	c.(5731-5733)GAC>GGC	p.D1911G	CACNA1A_uc002mwx.2_Missense_Mutation_p.D611G|CACNA1A_uc010dzc.1_Missense_Mutation_p.D1431G|CACNA1A_uc002mwz.2_Missense_Mutation_p.D1911G|CACNA1A_uc002mwy.2_Missense_Mutation_p.D1905G|CACNA1A_uc010dze.1_Missense_Mutation_p.D1906G|CACNA1A_uc002mwv.2_Missense_Mutation_p.D422G	NM_023035	NP_075461	O00555	CAC1A_HUMAN	Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Voltage- gated calcium channel subunit alpha Cav2.1) (Calcium channel, L type, alpha-1 polypeptide isoform 4) (Brain calcium channel I) (BI).	1906	Cytoplasmic (Potential).				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					Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)									0.421053	50.996438	51.202398	16	22	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Missense_Mutation	SNP	13196498	13196498	2654	19	T	C	C	58	58	CACNA1A	C	4	4
NDUFS7	374291	broad.mit.edu	36	19	1341912	1341912	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1341912G>A	uc002lse.2	+	c.271G>A	c.(271-273)GTG>ATG	p.V91M	NDUFS7_uc002lsf.2_Missense_Mutation_p.V155M|NDUFS7_uc002lsg.2_Missense_Mutation_p.V98M|NDUFS7_uc002lsh.1_Non-coding_Transcript	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	91					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)			NADH(DB00157)									0.149533	19.517457	32.155547	16	91	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1341912	1341912	10696	19	G	A	A	40	40	NDUFS7	A	1	1
GAMT	2593	broad.mit.edu	36	19	1350900	1350900	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1350900G>A	uc002lsk.1	-	c.219C>T	c.(217-219)ATC>ATT	p.I73I	GAMT_uc002lsj.1_Silent_p.I73I	NM_138924	NP_620279	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase isoform b	73	S-adenosyl-L-methionine binding.				creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)			Creatine(DB00148)	Colon(167;1531 1939 13427 28842 31956)								0.666667	53.555095	54.218716	18	9	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	1350900	1350900	6495	19	G	A	A	37	37	GAMT	A	1	1
DAZAP1	26528	broad.mit.edu	36	19	1372251	1372251	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1372251C>T	uc002lsn.1	+	c.408C>T	c.(406-408)TTC>TTT	p.F136F	DAZAP1_uc010dsj.1_Silent_p.F136F|DAZAP1_uc002lsl.1_Silent_p.F136F|DAZAP1_uc002lsm.1_Silent_p.F136F|DAZAP1_uc002lso.1_Silent_p.F135F	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	136	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)												0.153061	43.000346	65.646102	30	166	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	1372251	1372251	4415	19	C	T	T	31	31	DAZAP1	T	1	1
C19orf57	79173	broad.mit.edu	36	19	13861680	13861680	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13861680C>T	uc002mxl.1	-	c.989G>A	c.(988-990)GGA>GAA	p.G330E	C19orf57_uc002mxk.1_Missense_Mutation_p.G212E|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	330					multicellular organismal development		protein binding			ovary(2)	2														0.574468	237.829117	238.527525	81	60	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		Missense_Mutation	SNP	13861680	13861680	2003	19	C	T	T	30	30	C19orf57	T	2	2
DCAF15	90379	broad.mit.edu	36	19	13928188	13928188	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13928188G>A	uc002mxt.1	+	c.638G>A	c.(637-639)CGG>CAG	p.R213Q	PODNL1_uc002mxs.1_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	hypothetical protein LOC90379	213										central_nervous_system(1)	1														0.174648	113.125944	148.617356	62	293	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13928188	13928188	4438	19	G	A	A	39	39	DCAF15	A	1	1
IL27RA	9466	broad.mit.edu	36	19	14018023	14018023	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14018023G>A	uc002mxx.1	+	c.826G>A	c.(826-828)GAG>AAG	p.E276K		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor	276	Extracellular (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						Colon(164;1849 1896 4443 37792 47834)								0.408654	674.758186	679.317111	255	369	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14018023	14018023	7982	19	G	A	A	45	45	IL27RA	A	2	2
IL27RA	9466	broad.mit.edu	36	19	14018095	14018095	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14018095G>A	uc002mxx.1	+	c.898G>A	c.(898-900)GCT>ACT	p.A300T		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor	300	Extracellular (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						Colon(164;1849 1896 4443 37792 47834)								0.52381	910.961959	911.277069	330	300	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14018095	14018095	7982	19	G	A	A	38	38	IL27RA	A	1	1
APC2	10297	broad.mit.edu	36	19	1417232	1417232	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1417232C>A	uc002lsr.1	+	c.2932C>A	c.(2932-2934)CCC>ACC	p.P978T	APC2_uc002lss.1_Missense_Mutation_p.P560T|APC2_uc002lst.1_Missense_Mutation_p.P978T|APC2_uc002lsu.1_Missense_Mutation_p.P977T	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	978					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)												0.642857	23.652883	23.898961	9	5	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1417232	1417232	774	19	C	A	A	26	26	APC2	A	3	3
DDX39	10212	broad.mit.edu	36	19	14382913	14382913	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14382913G>A	uc002myo.1	-	c.501C>T	c.(499-501)GTC>GTT	p.V167V	DDX39_uc010dzl.1_Non-coding_Transcript|DDX39_uc010dzm.1_Silent_p.V167V	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	167	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0														0.505319	536.753015	536.763184	190	186	GG		KEEP	---	---	---	---	capture			Silent	SNP	14382913	14382913	4528	19	G	A	A	37	37	DDX39	A	1	1
PKN1	5585	broad.mit.edu	36	19	14422198	14422198	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14422198G>A	uc002myq.1	+	c.697G>A	c.(697-699)GCG>ACG	p.A233T	PKN1_uc002myp.1_Missense_Mutation_p.A227T	NM_213560	NP_998725	Q16512	PKN1_HUMAN	protein kinase N1 isoform 1	227	REM 3.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						NSCLC(185;2539 2965 10733 52867)				331				0.258065	16.283617	17.930109	8	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14422198	14422198	12404	19	G	A	A	38	38	PKN1	A	1	1
PKN1	5585	broad.mit.edu	36	19	14439766	14439766	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14439766G>A	uc002myq.1	+	c.1981G>A	c.(1981-1983)GAC>AAC	p.D661N	PKN1_uc002myp.1_Missense_Mutation_p.D655N|PKN1_uc002myr.1_5'UTR	NM_213560	NP_998725	Q16512	PKN1_HUMAN	protein kinase N1 isoform 1	655	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						NSCLC(185;2539 2965 10733 52867)				331				0.221239	51.404371	59.500512	25	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14439766	14439766	12404	19	G	A	A	33	33	PKN1	A	2	2
GIPC1	10755	broad.mit.edu	36	19	14452175	14452175	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14452175C>A	uc002myt.1	-	c.597G>T	c.(595-597)AAG>AAT	p.K199N	GIPC1_uc002myu.1_Missense_Mutation_p.K199N|GIPC1_uc002myv.1_Missense_Mutation_p.K102N|GIPC1_uc002myw.1_Missense_Mutation_p.K102N|GIPC1_uc002myx.1_Missense_Mutation_p.K199N|GIPC1_uc002myy.1_Missense_Mutation_p.K102N	NM_005716	NP_974223	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	199	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0						Pancreas(33;78 923 2910 41023 52850)						OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.151042	40.394501	62.765838	29	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14452175	14452175	6660	19	C	A	A	24	24	GIPC1	A	3	3
GIPC1	10755	broad.mit.edu	36	19	14454626	14454626	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14454626G>A	uc002myt.1	-	c.163C>T	c.(163-165)CGG>TGG	p.R55W	GIPC1_uc002myu.1_Missense_Mutation_p.R55W|GIPC1_uc002myv.1_Intron|GIPC1_uc002myw.1_Intron|GIPC1_uc002myx.1_Missense_Mutation_p.R55W|GIPC1_uc002myy.1_Intron	NM_005716	NP_974223	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	55					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0						Pancreas(33;78 923 2910 41023 52850)								0.394737	39.114824	39.483791	15	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14454626	14454626	6660	19	G	A	A	38	38	GIPC1	A	1	1
REEP6	92840	broad.mit.edu	36	19	1446361	1446361	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1446361G>A	uc002ltc.1	+	c.184G>A	c.(184-186)GGA>AGA	p.G62R		NM_138393	NP_612402	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	62	Helical; (Potential).					integral to membrane					0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)												0.171598	56.873196	74.102175	29	140	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1446361	1446361	13678	19	G	A	A	39	39	REEP6	A	1	1
DNAJB1	3337	broad.mit.edu	36	19	14488452	14488452	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14488452G>A	uc002myz.1	-	c.618C>T	c.(616-618)ATC>ATT	p.I206I		NM_006145	NP_006136	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	206					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding				0														0.561947	748.36882	749.877727	254	198	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;0.0476)	Silent	SNP	14488452	14488452	4798	19	G	A	A	37	37	DNAJB1	A	1	1
DNAJB1	3337	broad.mit.edu	36	19	14488715	14488715	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14488715G>A	uc002myz.1	-	c.355C>T	c.(355-357)CGG>TGG	p.R119W		NM_006145	NP_006136	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	119					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding				0														0.579861	486.344377	487.945836	167	121	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;0.0476)	Missense_Mutation	SNP	14488715	14488715	4798	19	G	A	A	38	38	DNAJB1	A	1	1
NDUFB7	4713	broad.mit.edu	36	19	14538001	14538001	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14538001C>T	uc002mzg.1	-	c.358G>A	c.(358-360)GCA>ACA	p.A120T		NM_004146	NP_004137	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	120					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)	1					NADH(DB00157)									0.223684	34.028638	39.370027	17	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14538001	14538001	10685	19	C	T	T	26	26	NDUFB7	T	2	2
CLEC17A	388512	broad.mit.edu	36	19	14566483	14566483	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14566483G>A	uc010dzo.1	+	c.350G>A	c.(349-351)CGG>CAG	p.R117Q	CLEC17A_uc002mzh.1_Missense_Mutation_p.R100Q|CLEC17A_uc010dzn.1_Missense_Mutation_p.R117Q	NM_207390	NP_997273	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	117	Cytoplasmic (Potential).					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity				0														0.638655	248.628091	250.640885	76	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14566483	14566483	3638	19	G	A	A	39	39	CLEC17A	A	1	1
ADAMTSL5	339366	broad.mit.edu	36	19	1457266	1457266	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1457266G>T	uc002ltd.1	-	c.1164C>A	c.(1162-1164)CGC>CGA	p.R388R	ADAMTSL5_uc010dsl.1_Silent_p.R157R	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	388	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)												0.385542	85.675537	86.630105	32	51	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	1457266	1457266	279	19	G	T	T	34	34	ADAMTSL5	T	3	3
ZNF333	84449	broad.mit.edu	36	19	14690490	14690490	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14690490G>A	uc002mzn.1	+	c.1351G>A	c.(1351-1353)GAG>AAG	p.E451K	ZNF333_uc002mzk.2_Missense_Mutation_p.E342K	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	451	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						NSCLC(60;75 1281 16985 25154 29885)								0.196078	38.539577	47.324229	20	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14690490	14690490	18442	19	G	A	A	37	37	ZNF333	A	1	1
EMR2	30817	broad.mit.edu	36	19	14726859	14726859	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14726859G>A	uc002mzp.1	-	c.1497C>T	c.(1495-1497)GGC>GGT	p.G499G	EMR2_uc010dzs.1_Intron|EMR2_uc002mzo.1_Silent_p.G488G|EMR2_uc002mzq.1_Silent_p.G439G|EMR2_uc002mzr.1_Silent_p.G450G|EMR2_uc002mzs.1_Silent_p.G357G|EMR2_uc002mzt.1_Silent_p.G395G|EMR2_uc002mzu.1_Silent_p.G406G	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	499	Extracellular (Potential).|GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1														0.381271	302.852519	306.557221	114	185	GG		KEEP	---	---	---	---	capture			Silent	SNP	14726859	14726859	5298	19	G	A	A	34	34	EMR2	A	2	2
EMR2	30817	broad.mit.edu	36	19	14727597	14727597	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14727597G>T	uc002mzp.1	-	c.1285C>A	c.(1285-1287)CTG>ATG	p.L429M	EMR2_uc010dzs.1_Intron|EMR2_uc002mzo.1_Missense_Mutation_p.L418M|EMR2_uc002mzq.1_Missense_Mutation_p.L369M|EMR2_uc002mzr.1_Missense_Mutation_p.L380M|EMR2_uc002mzs.1_Missense_Mutation_p.L287M|EMR2_uc002mzt.1_Missense_Mutation_p.L325M|EMR2_uc002mzu.1_Missense_Mutation_p.L336M	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	429	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1														0.217593	87.592542	103.498048	47	169	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14727597	14727597	5298	19	G	T	T	33	33	EMR2	T	3	3
OR7C1	26664	broad.mit.edu	36	19	14771580	14771580	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14771580G>A	uc002mzv.1	-	c.369C>T	c.(367-369)TTC>TTT	p.F123F		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	123	Cytoplasmic (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.553097	364.367581	364.919822	125	101	GG		KEEP	---	---	---	---	capture			Silent	SNP	14771580	14771580	11628	19	G	A	A	37	37	OR7C1	A	1	1
OR7A5	26659	broad.mit.edu	36	19	14799889	14799889	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14799889G>A	uc002mzw.1	-	c.165C>T	c.(163-165)CTC>CTT	p.L55L	OR7A5_uc010dzt.1_Silent_p.L55L	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.159468	75.893643	109.166971	48	253	GG		KEEP	---	---	---	---	capture			Silent	SNP	14799889	14799889	11627	19	G	A	A	41	41	OR7A5	A	2	2
OR7A10	390892	broad.mit.edu	36	19	14812778	14812778	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14812778G>T	uc002mzx.1	-	c.912C>A	c.(910-912)TTC>TTA	p.F304L		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.181818	54.377719	71.137384	32	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14812778	14812778	11625	19	G	T	T	33	33	OR7A10	T	3	3
OR7A17	26333	broad.mit.edu	36	19	14853074	14853074	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14853074G>T	uc002mzy.1	-	c.94C>A	c.(94-96)CTG>ATG	p.L32M		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.226804	44.792906	51.446055	22	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14853074	14853074	11626	19	G	T	T	33	33	OR7A17	T	3	3
SLC1A6	6511	broad.mit.edu	36	19	14940239	14940239	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14940239C>T	uc002naa.1	-	c.424G>A	c.(424-426)GCG>ACG	p.A142T	SLC1A6_uc010dzu.1_Missense_Mutation_p.A142T|SLC1A6_uc002nab.2_Missense_Mutation_p.A142T|SLC1A6_uc002nac.2_Missense_Mutation_p.A142T|SLC1A6_uc002nad.1_Missense_Mutation_p.A142T	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	142	Helical; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)	5					L-Glutamic Acid(DB00142)									0.293333	51.662403	54.50641	22	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14940239	14940239	14932	19	C	T	T	27	27	SLC1A6	T	1	1
CCDC105	126402	broad.mit.edu	36	19	14993170	14993170	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14993170G>A	uc002nae.1	+	c.880G>A	c.(880-882)GCC>ACC	p.A294T		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	294					microtubule cytoskeleton organization	microtubule				ovary(1)	1														0.156627	19.226075	28.565645	13	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14993170	14993170	2860	19	G	A	A	38	38	CCDC105	A	1	1
OR1I1	126370	broad.mit.edu	36	19	15059596	15059596	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15059596C>A	uc002nag.1	+	c.720C>A	c.(718-720)ACC>ACA	p.T240T		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3														0.316832	157.711023	163.746862	64	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	15059596	15059596	11364	19	C	A	A	24	24	OR1I1	A	3	3
SYDE1	85360	broad.mit.edu	36	19	15085520	15085520	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15085520G>A	uc002nah.1	+	c.1954G>A	c.(1954-1956)GCC>ACC	p.A652T	SYDE1_uc002nai.1_Missense_Mutation_p.A585T|SYDE1_uc002naj.1_Missense_Mutation_p.A309T	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	652					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2														0.352	219.915964	224.749072	88	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15085520	15085520	15956	19	G	A	A	38	38	SYDE1	A	1	1
SYDE1	85360	broad.mit.edu	36	19	15085714	15085714	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15085714C>T	uc002nah.1	+	c.2148C>T	c.(2146-2148)TTC>TTT	p.F716F	SYDE1_uc002nai.1_Silent_p.F649F|SYDE1_uc002naj.1_Silent_p.F373F	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	716					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2														0.364835	431.527385	438.876969	166	289	CC		KEEP	---	---	---	---	capture			Silent	SNP	15085714	15085714	15956	19	C	T	T	31	31	SYDE1	T	1	1
NOTCH3	4854	broad.mit.edu	36	19	15137765	15137765	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15137765G>A	uc002nan.1	-	c.5500C>T	c.(5500-5502)CGG>TGG	p.R1834W		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3	1834	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			ovary(5)|lung(2)|central_nervous_system(1)	8										417				0.161538	32.405328	46.566573	21	109	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		Missense_Mutation	SNP	15137765	15137765	10953	19	G	A	A	40	40	NOTCH3	A	1	1
NOTCH3	4854	broad.mit.edu	36	19	15152050	15152050	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15152050G>T	uc002nan.1	-	c.3160C>A	c.(3160-3162)CTG>ATG	p.L1054M	NOTCH3_uc002nao.1_Missense_Mutation_p.L1002M	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3	1054	Extracellular (Potential).|EGF-like 27.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			ovary(5)|lung(2)|central_nervous_system(1)	8										417				0.344262	50.048769	51.358918	21	40	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		Missense_Mutation	SNP	15152050	15152050	10953	19	G	T	T	34	34	NOTCH3	T	3	3
NOTCH3	4854	broad.mit.edu	36	19	15163665	15163665	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15163665C>A	uc002nan.1	-	c.693G>T	c.(691-693)CAG>CAT	p.Q231H	NOTCH3_uc002nao.1_Missense_Mutation_p.Q231H	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3	231	Extracellular (Potential).|EGF-like 5.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			ovary(5)|lung(2)|central_nervous_system(1)	8										417				0.558824	316.80497	317.412241	114	90	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		Missense_Mutation	SNP	15163665	15163665	10953	19	C	A	A	32	32	NOTCH3	A	3	3
BRD4	23476	broad.mit.edu	36	19	15210733	15210733	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15210733G>A	uc002nar.1	-	c.3841C>T	c.(3841-3843)CGG>TGG	p.R1281W		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1281					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2										269				0.5	17.725355	17.725355	7	7	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Missense_Mutation	SNP	15210733	15210733	1535	19	G	A	A	37	37	BRD4	A	1	1
BRD4	23476	broad.mit.edu	36	19	15214728	15214728	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15214728G>A	uc002nar.1	-	c.3152C>T	c.(3151-3153)TCG>TTG	p.S1051L		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1051					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2										269				0.171429	10.126439	13.701086	6	29	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Missense_Mutation	SNP	15214728	15214728	1535	19	G	A	A	37	37	BRD4	A	1	1
BRD4	23476	broad.mit.edu	36	19	15235250	15235250	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15235250G>A	uc002nar.1	-	c.1322C>T	c.(1321-1323)GCC>GTC	p.A441V	BRD4_uc002nas.1_Missense_Mutation_p.A441V|BRD4_uc002nat.2_Missense_Mutation_p.A441V|BRD4_uc002nau.2_Missense_Mutation_p.A441V	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	441					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2										269				0.201183	65.150874	79.184569	34	135	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Missense_Mutation	SNP	15235250	15235250	1535	19	G	A	A	42	42	BRD4	A	2	2
BRD4	23476	broad.mit.edu	36	19	15240767	15240767	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15240767T>G	uc002nar.1	-	c.372A>C	c.(370-372)GAA>GAC	p.E124D	BRD4_uc002nas.1_Missense_Mutation_p.E124D|BRD4_uc002nat.2_Missense_Mutation_p.E124D|BRD4_uc002nau.2_Missense_Mutation_p.E124D	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	124	Bromo 1.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2										269				0.473171	334.172863	334.300257	97	108	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Missense_Mutation	SNP	15240767	15240767	1535	19	T	G	G	52	52	BRD4	G	4	4
AKAP8	10270	broad.mit.edu	36	19	15344942	15344942	+	Missense_Mutation	SNP	C	T	T	rs61757556	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15344942C>T	uc002nav.1	-	c.581G>A	c.(580-582)CGC>CAC	p.R194H	AKAP8_uc010dzy.1_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	194					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GBM(190;1671 2163 3274 27186 30476)								0.25	37.070429	41.127072	18	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15344942	15344942	460	19	C	T	T	27	27	AKAP8	T	1	1
AKAP8	10270	broad.mit.edu	36	19	15345067	15345067	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15345067G>A	uc002nav.1	-	c.456C>T	c.(454-456)TAC>TAT	p.Y152Y	AKAP8_uc010dzy.1_De_novo_Start_OutOfFrame|AKAP8_uc010dzz.1_Non-coding_Transcript	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	152					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GBM(190;1671 2163 3274 27186 30476)								0.396947	137.36414	138.583511	52	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	15345067	15345067	460	19	G	A	A	40	40	AKAP8	A	1	1
AKAP8	10270	broad.mit.edu	36	19	15345130	15345130	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15345130G>A	uc002nav.1	-	c.393C>T	c.(391-393)TTC>TTT	p.F131F	AKAP8_uc010dzy.1_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	131					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GBM(190;1671 2163 3274 27186 30476)								0.241935	33.840208	37.575806	15	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	15345130	15345130	460	19	G	A	A	37	37	AKAP8	A	1	1
WIZ	58525	broad.mit.edu	36	19	15397436	15397436	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15397436C>T	uc002nba.2	-	c.1348G>A	c.(1348-1350)GAC>AAC	p.D450N	WIZ_uc002nbb.2_Missense_Mutation_p.D409N	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1266						nucleus	zinc ion binding				0														0.34375	112.475335	115.228787	44	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15397436	15397436	17949	19	C	T	T	31	31	WIZ	T	1	1
WIZ	58525	broad.mit.edu	36	19	15399097	15399097	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15399097G>A	uc002nba.2	-	c.900C>T	c.(898-900)GGC>GGT	p.G300G	WIZ_uc002nbb.2_Silent_p.G259G	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1116	Pro-rich.					nucleus	zinc ion binding				0														0.421488	125.292487	125.943833	51	70	GG		KEEP	---	---	---	---	capture			Silent	SNP	15399097	15399097	17949	19	G	A	A	38	38	WIZ	A	1	1
RASAL3	64926	broad.mit.edu	36	19	15423876	15423876	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15423876C>A	uc002nbe.2	-	c.2872G>T	c.(2872-2874)GGG>TGG	p.G958W	WIZ_uc002nbb.2_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Intron	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	958	Potential.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0														0.329545	221.382042	228.158763	87	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15423876	15423876	13526	19	C	A	A	24	24	RASAL3	A	3	3
CYP4F22	126410	broad.mit.edu	36	19	15512283	15512283	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15512283G>T	uc002nbh.2	+	c.694G>T	c.(694-696)GCT>TCT	p.A232S		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	232					oxidation-reduction process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity			pancreas(1)	1														0.121569	34.838044	70.650575	31	224	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15512283	15512283	4354	19	G	T	T	38	38	CYP4F22	T	3	3
CYP4F22	126410	broad.mit.edu	36	19	15515961	15515961	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15515961G>A	uc002nbh.2	+	c.1007G>A	c.(1006-1008)GGT>GAT	p.G336D		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	336					oxidation-reduction process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity			pancreas(1)	1														0.175676	112.253682	148.960042	65	305	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15515961	15515961	4354	19	G	A	A	44	44	CYP4F22	A	2	2
CYP4F22	126410	broad.mit.edu	36	19	15519923	15519923	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15519923G>A	uc002nbh.2	+	c.1141G>A	c.(1141-1143)GAT>AAT	p.D381N		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	381					oxidation-reduction process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity			pancreas(1)	1														0.448276	427.334843	428.146471	156	192	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15519923	15519923	4354	19	G	A	A	37	37	CYP4F22	A	1	1
CYP4F8	11283	broad.mit.edu	36	19	15591527	15591527	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15591527G>A	uc002nbi.1	+	c.480G>A	c.(478-480)CTG>CTA	p.L160L		NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	160					oxidation-reduction process|prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			large_intestine(1)	1														0.1375	13.865449	24.043589	11	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	15591527	15591527	4356	19	G	A	A	45	45	CYP4F8	A	2	2
CYP4F3	4051	broad.mit.edu	36	19	15613271	15613271	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15613271G>A	uc002nbj.1	+	c.46G>A	c.(46-48)GCA>ACA	p.A16T	CYP4F3_uc002nbk.1_Missense_Mutation_p.A16T	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	16	Helical; (Potential).				leukotriene metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3														0.396552	257.838036	260.013932	92	140	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15613271	15613271	4355	19	G	A	A	34	34	CYP4F3	A	2	2
CYP4F3	4051	broad.mit.edu	36	19	15621899	15621899	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15621899G>A	uc002nbj.1	+	c.824G>A	c.(823-825)CGC>CAC	p.R275H	CYP4F3_uc002nbk.1_Missense_Mutation_p.R275H	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	275					leukotriene metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3														0.161392	70.307547	104.579342	51	265	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15621899	15621899	4355	19	G	A	A	38	38	CYP4F3	A	1	1
CYP4F3	4051	broad.mit.edu	36	19	15631088	15631088	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15631088C>T	uc002nbj.1	+	c.1456C>T	c.(1456-1458)CTG>TTG	p.L486L	CYP4F3_uc002nbk.1_Silent_p.L486L	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	486					leukotriene metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3														0.409524	118.297346	119.05006	43	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	15631088	15631088	4355	19	C	T	T	28	28	CYP4F3	T	2	2
CYP4F12	66002	broad.mit.edu	36	19	15652299	15652299	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15652299G>A	uc002nbl.2	+	c.495G>A	c.(493-495)ACG>ACA	p.T165T		NM_023944	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F,	165					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|central_nervous_system(2)	4	Acute lymphoblastic leukemia(2;0.0367)													0.474138	158.316044	158.383385	55	61	GG		KEEP	---	---	---	---	capture			Silent	SNP	15652299	15652299	4352	19	G	A	A	37	37	CYP4F12	A	1	1
CYP4F12	66002	broad.mit.edu	36	19	15654294	15654294	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15654294C>A	uc002nbl.2	+	c.621C>A	c.(619-621)ATC>ATA	p.I207I		NM_023944	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F,	207					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|central_nervous_system(2)	4	Acute lymphoblastic leukemia(2;0.0367)													0.167832	72.713969	102.63597	48	238	CC		KEEP	---	---	---	---	capture			Silent	SNP	15654294	15654294	4352	19	C	A	A	32	32	CYP4F12	A	3	3
CYP4F12	66002	broad.mit.edu	36	19	15656956	15656956	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15656956G>A	uc002nbl.2	+	c.1064G>A	c.(1063-1065)CGA>CAA	p.R355Q		NM_023944	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F,	355					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|central_nervous_system(2)	4	Acute lymphoblastic leukemia(2;0.0367)													0.150602	36.166221	55.597174	25	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15656956	15656956	4352	19	G	A	A	37	37	CYP4F12	A	1	1
OR10H2	26538	broad.mit.edu	36	19	15700646	15700646	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15700646G>T	uc002nbm.2	+	c.793G>T	c.(793-795)GGT>TGT	p.G265C		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)													0.555102	390.59901	391.244555	136	109	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15700646	15700646	11312	19	G	T	T	35	35	OR10H2	T	3	3
OR10H3	26532	broad.mit.edu	36	19	15713383	15713383	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15713383T>C	uc002nbn.1	+	c.181T>C	c.(181-183)TAC>CAC	p.Y61H		NM_013938	NP_039226	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.180509	384.395535	470.955404	163	740	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15713383	15713383	11313	19	T	C	C	57	57	OR10H3	C	4	4
OR10H5	284433	broad.mit.edu	36	19	15766629	15766629	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15766629C>T	uc002nbp.1	+	c.771C>T	c.(769-771)TCC>TCT	p.S257S		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.137725	33.31641	54.515498	23	144	CC		KEEP	---	---	---	---	capture			Silent	SNP	15766629	15766629	11315	19	C	T	T	23	23	OR10H5	T	1	1
OR10H1	26539	broad.mit.edu	36	19	15779164	15779164	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15779164C>A	uc002nbq.2	-	c.684G>T	c.(682-684)AAG>AAT	p.K228N		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.490909	218.21428	218.227133	81	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15779164	15779164	11311	19	C	A	A	32	32	OR10H1	A	3	3
CYP4F11	57834	broad.mit.edu	36	19	15893970	15893970	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15893970T>C	uc002nbu.2	-	c.992A>G	c.(991-993)GAC>GGC	p.D331G	CYP4F11_uc010eab.1_Missense_Mutation_p.D331G|CYP4F11_uc002nbt.2_Missense_Mutation_p.D331G	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	331					inflammatory response|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.129412	26.746756	49.717618	22	148	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15893970	15893970	4351	19	T	C	C	58	58	CYP4F11	C	4	4
CYP4F11	57834	broad.mit.edu	36	19	15895838	15895838	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15895838C>A	uc002nbu.2	-	c.702G>T	c.(700-702)AAG>AAT	p.K234N	CYP4F11_uc010eab.1_Missense_Mutation_p.K234N|CYP4F11_uc002nbt.2_Missense_Mutation_p.K234N	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	234					inflammatory response|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.195652	93.987669	117.971169	54	222	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15895838	15895838	4351	19	C	A	A	32	32	CYP4F11	A	3	3
CYP4F11	57834	broad.mit.edu	36	19	15906048	15906048	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15906048C>T	uc002nbu.2	-	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q	CYP4F11_uc010eab.1_Silent_p.Q57Q|CYP4F11_uc002nbt.2_Silent_p.Q57Q	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	57					inflammatory response|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.212871	91.303085	106.703745	43	159	CC		KEEP	---	---	---	---	capture			Silent	SNP	15906048	15906048	4351	19	C	T	T	32	32	CYP4F11	T	2	2
TPM4	7171	broad.mit.edu	36	19	16039487	16039487	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16039487C>T	uc002ndi.1	+	c.53C>T	c.(52-54)GCC>GTC	p.A18V		NM_003290	NP_003281	P67936	TPM4_HUMAN	tropomyosin 4 isoform 2	143	By similarity.				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1)	13										49				0.530612	226.340646	226.459371	78	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16039487	16039487	16952	19	C	T	T	26	26	TPM4	T	2	2
HSH2D	84941	broad.mit.edu	36	19	16129238	16129238	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16129238C>T	uc002ndp.2	+	c.692C>T	c.(691-693)TCG>TTG	p.S231L	HSH2D_uc002ndr.1_Silent_p.V174V|HSH2D_uc010ead.1_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	231						cytoplasm|nucleus					0														0.148855	55.665599	86.662968	39	223	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16129238	16129238	7699	19	C	T	T	31	31	HSH2D	T	1	1
CIB3	117286	broad.mit.edu	36	19	16136713	16136713	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16136713C>T	uc002nds.1	-	c.358G>A	c.(358-360)GAC>AAC	p.D120N	CIB3_uc010eae.1_Missense_Mutation_p.D59N|CIB3_uc010eaf.1_Non-coding_Transcript|CIB3_uc010eag.1_Missense_Mutation_p.D71N	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	DNA-dependent protein kinase catalytic	120	EF-hand 2.|1 (Potential).						calcium ion binding			ovary(1)	1														0.144105	45.427269	73.357304	33	196	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16136713	16136713	3556	19	C	T	T	31	31	CIB3	T	1	1
KLF2	10365	broad.mit.edu	36	19	16298764	16298764	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16298764G>A	uc002ndw.1	+	c.990G>A	c.(988-990)CGG>CGA	p.R330R		NM_016270	NP_057354	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor	330						nucleus	sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding				0														0.159574	20.258779	30.647723	15	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	16298764	16298764	8658	19	G	A	A	42	42	KLF2	A	2	2
CALR3	125972	broad.mit.edu	36	19	16450949	16450949	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16450949T>G	uc002ned.2	-	c.1148A>C	c.(1147-1149)GAA>GCA	p.E383A	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3	383	Prevents secretion from ER (Potential).|C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0														0.535014	667.128525	667.508762	191	166	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16450949	16450949	2710	19	T	G	G	62	62	CALR3	G	4	4
CALR3	125972	broad.mit.edu	36	19	16467600	16467600	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16467600G>A	uc002ned.2	-	c.155C>T	c.(154-156)TCG>TTG	p.S52L	MED26_uc002nee.2_Non-coding_Transcript|C19orf44_uc002nef.1_5'Flank|C19orf44_uc002neg.2_5'Flank|C19orf44_uc002neh.1_5'Flank|C19orf44_uc010eai.1_5'Flank	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3	52	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0														0.294118	136.245571	143.343521	55	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16467600	16467600	2710	19	G	A	A	37	37	CALR3	A	1	1
CHERP	10523	broad.mit.edu	36	19	16492699	16492699	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16492699G>T	uc002nei.1	-	c.2139C>A	c.(2137-2139)CTC>CTA	p.L713L	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_Non-coding_Transcript	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	713					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2														0.545918	295.703695	296.0602	107	89	GG		KEEP	---	---	---	---	capture			Silent	SNP	16492699	16492699	3470	19	G	T	T	33	33	CHERP	T	3	3
MED26	9441	broad.mit.edu	36	19	16550212	16550212	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16550212G>A	uc002nen.1	-	c.81C>T	c.(79-81)AAC>AAT	p.N27N	MED26_uc002nee.2_Non-coding_Transcript	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	27	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription mediator activity|transcription coactivator activity			ovary(2)	2														0.162437	48.463547	69.824126	32	165	GG		KEEP	---	---	---	---	capture			Silent	SNP	16550212	16550212	9833	19	G	A	A	48	48	MED26	A	2	2
NWD1	284434	broad.mit.edu	36	19	16720990	16720990	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16720990G>T	uc002net.2	+	c.132G>T	c.(130-132)GAG>GAT	p.E44D	NWD1_uc002neu.2_Missense_Mutation_p.E179D|NWD1_uc002nev.2_De_novo_Start_OutOfFrame	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	179							ATP binding			ovary(2)|pancreas(2)	4														0.503497	199.262942	199.264187	72	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16720990	16720990	11186	19	G	T	T	35	35	NWD1	T	3	3
NWD1	284434	broad.mit.edu	36	19	16721484	16721484	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16721484G>A	uc002net.2	+	c.626G>A	c.(625-627)GGC>GAC	p.G209D	NWD1_uc002neu.2_Missense_Mutation_p.G344D|NWD1_uc002nev.2_Missense_Mutation_p.G138D	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	344	ATP (Potential).|NACHT.						ATP binding			ovary(2)|pancreas(2)	4														0.389474	198.325285	200.350962	74	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16721484	16721484	11186	19	G	A	A	42	42	NWD1	A	2	2
NWD1	284434	broad.mit.edu	36	19	16721594	16721594	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16721594G>T	uc002net.2	+	c.736G>T	c.(736-738)GAT>TAT	p.D246Y	NWD1_uc002neu.2_Missense_Mutation_p.D381Y|NWD1_uc002nev.2_Missense_Mutation_p.D175Y	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	381	NACHT.						ATP binding			ovary(2)|pancreas(2)	4														0.362963	123.125498	125.361075	49	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16721594	16721594	11186	19	G	T	T	33	33	NWD1	T	3	3
NWD1	284434	broad.mit.edu	36	19	16721749	16721749	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16721749C>T	uc002net.2	+	c.891C>T	c.(889-891)CTC>CTT	p.L297L	NWD1_uc002neu.2_Silent_p.L432L|NWD1_uc002nev.2_Silent_p.L226L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	432	NACHT.						ATP binding			ovary(2)|pancreas(2)	4														0.22093	159.011647	183.68219	76	268	CC		KEEP	---	---	---	---	capture			Silent	SNP	16721749	16721749	11186	19	C	T	T	31	31	NWD1	T	1	1
NWD1	284434	broad.mit.edu	36	19	16731113	16731113	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16731113G>T	uc002net.2	+	c.1442G>T	c.(1441-1443)TGG>TTG	p.W481L	NWD1_uc002neu.2_Missense_Mutation_p.W616L|NWD1_uc002nev.2_Missense_Mutation_p.W410L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	616	NACHT.						ATP binding			ovary(2)|pancreas(2)	4														0.223077	57.613212	66.781456	29	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16731113	16731113	11186	19	G	T	T	47	47	NWD1	T	3	3
NWD1	284434	broad.mit.edu	36	19	16760893	16760893	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16760893G>T	uc002net.2	+	c.2427G>T	c.(2425-2427)GAG>GAT	p.E809D	NWD1_uc002neu.2_Missense_Mutation_p.E944D|NWD1_uc002nev.2_Missense_Mutation_p.E738D	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	944	WD 3.						ATP binding			ovary(2)|pancreas(2)	4														0.375465	255.373668	259.047995	101	168	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16760893	16760893	11186	19	G	T	T	33	33	NWD1	T	3	3
NWD1	284434	broad.mit.edu	36	19	16763341	16763341	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16763341T>C	uc002net.2	+	c.2716T>C	c.(2716-2718)TCC>CCC	p.S906P	NWD1_uc002neu.2_Missense_Mutation_p.S1041P|NWD1_uc002nev.2_Missense_Mutation_p.S835P	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1041							ATP binding			ovary(2)|pancreas(2)	4														0.219653	100.575192	113.08382	38	135	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16763341	16763341	11186	19	T	C	C	58	58	NWD1	C	4	4
NWD1	284434	broad.mit.edu	36	19	16763429	16763429	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16763429C>A	uc002net.2	+	c.2804C>A	c.(2803-2805)TCT>TAT	p.S935Y	NWD1_uc002neu.2_Missense_Mutation_p.S1070Y|NWD1_uc002nev.2_Missense_Mutation_p.S864Y	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1070	WD 6.						ATP binding			ovary(2)|pancreas(2)	4														0.105769	10.779682	42.929366	22	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16763429	16763429	11186	19	C	A	A	32	32	NWD1	A	3	3
NWD1	284434	broad.mit.edu	36	19	16771871	16771871	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16771871C>A	uc002net.2	+	c.3229C>A	c.(3229-3231)CTG>ATG	p.L1077M	NWD1_uc002neu.2_Missense_Mutation_p.L1212M|NWD1_uc002nev.2_Missense_Mutation_p.L1006M	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1212	WD 10.						ATP binding			ovary(2)|pancreas(2)	4														0.109677	9.351853	32.751876	17	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16771871	16771871	11186	19	C	A	A	32	32	NWD1	A	3	3
NWD1	284434	broad.mit.edu	36	19	16779925	16779925	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16779925G>A	uc002net.2	+	c.3860G>A	c.(3859-3861)TGG>TAG	p.W1287*	NWD1_uc002neu.2_Nonsense_Mutation_p.W1422*|NWD1_uc002nev.2_Nonsense_Mutation_p.W1216*	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1422	WD 12.						ATP binding			ovary(2)|pancreas(2)	4														0.343891	218.430179	223.188586	76	145	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	16779925	16779925	11186	19	G	A	A	47	47	NWD1	A	5	2
SIN3B	23309	broad.mit.edu	36	19	16834351	16834351	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16834351G>T	uc002ney.1	+	c.1247G>T	c.(1246-1248)AGG>ATG	p.R416M	SIN3B_uc002nex.1_Missense_Mutation_p.R348M|SIN3B_uc002nez.1_Missense_Mutation_p.R416M	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	416	Interaction with SDS3 and HDAC1 (By similarity).|Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2														0.171429	17.992858	25.116868	12	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16834351	16834351	14821	19	G	T	T	35	35	SIN3B	T	3	3
SIN3B	23309	broad.mit.edu	36	19	16834761	16834761	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16834761A>G	uc002ney.1	+	c.1333A>G	c.(1333-1335)ACC>GCC	p.T445A	SIN3B_uc002nex.1_Missense_Mutation_p.T377A|SIN3B_uc002nez.1_Intron	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	445	Interaction with SDS3 and HDAC1 (By similarity).|Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2														0.177419	195.842177	244.428785	88	408	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16834761	16834761	14821	19	A	G	G	14	14	SIN3B	G	4	4
SIN3B	23309	broad.mit.edu	36	19	16841666	16841666	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16841666G>T	uc002ney.1	+	c.2298G>T	c.(2296-2298)AAG>AAT	p.K766N	SIN3B_uc002nez.1_Missense_Mutation_p.K734N	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	766					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2														0.162791	27.273983	41.268839	21	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16841666	16841666	14821	19	G	T	T	34	34	SIN3B	T	3	3
SIN3B	23309	broad.mit.edu	36	19	16849397	16849397	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16849397C>T	uc002ney.1	+	c.2997C>T	c.(2995-2997)GGC>GGT	p.G999G	SIN3B_uc002nez.1_Silent_p.G967G|SIN3B_uc010eaj.1_5'UTR	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	999					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2														0.291667	31.060543	32.91027	14	34	CC		KEEP	---	---	---	---	capture			Silent	SNP	16849397	16849397	14821	19	C	T	T	27	27	SIN3B	T	1	1
CPAMD8	27151	broad.mit.edu	36	19	16875593	16875593	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16875593G>A	uc002nfb.1	-	c.4467C>T	c.(4465-4467)GTC>GTT	p.V1489V	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1442						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)	12										1067				0.15625	89.999631	129.710388	55	297	GG		KEEP	---	---	---	---	capture			Silent	SNP	16875593	16875593	3933	19	G	A	A	33	33	CPAMD8	A	2	2
CPAMD8	27151	broad.mit.edu	36	19	16886595	16886595	+	Missense_Mutation	SNP	C	T	T	rs57249432	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16886595C>T	uc002nfb.1	-	c.3799G>A	c.(3799-3801)GCA>ACA	p.A1267T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1220						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)	12										1067				0.114865	15.48915	37.107802	17	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16886595	16886595	3933	19	C	T	T	27	27	CPAMD8	T	1	1
CPAMD8	27151	broad.mit.edu	36	19	16897028	16897028	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16897028C>A	uc002nfb.1	-	c.3666G>T	c.(3664-3666)GAG>GAT	p.E1222D		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1175						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)	12										1067				0.146429	51.980883	85.651014	41	239	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16897028	16897028	3933	19	C	A	A	32	32	CPAMD8	A	3	3
MYO9B	4650	broad.mit.edu	36	19	17074232	17074232	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17074232C>T	uc010eak.1	+	c.705C>T	c.(703-705)ATC>ATT	p.I235I	MYO9B_uc002nfi.1_Silent_p.I235I|MYO9B_uc002nfj.1_Silent_p.I235I|MYO9B_uc002nfk.1_Silent_p.I235I	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	235	Myosin head-like.				actin filament-based movement|Rho protein signal transduction	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1														0.497207	252.297751	252.2986	89	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	17074232	17074232	10480	19	C	T	T	31	31	MYO9B	T	1	1
MYO9B	4650	broad.mit.edu	36	19	17159826	17159826	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17159826C>T	uc010eak.1	+	c.2660C>T	c.(2659-2661)TCA>TTA	p.S887L	MYO9B_uc002nfi.1_Missense_Mutation_p.S887L|MYO9B_uc002nfj.1_Missense_Mutation_p.S887L|MYO9B_uc002nfk.1_Missense_Mutation_p.S887L	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	887	Myosin head-like.				actin filament-based movement|Rho protein signal transduction	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1														0.419355	34.466135	34.642833	13	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17159826	17159826	10480	19	C	T	T	29	29	MYO9B	T	2	2
MYO9B	4650	broad.mit.edu	36	19	17167196	17167196	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17167196C>T	uc010eak.1	+	c.3960C>T	c.(3958-3960)GCC>GCT	p.A1320A	MYO9B_uc002nfi.1_Silent_p.A1320A|MYO9B_uc002nfj.1_Silent_p.A1320A|MYO9B_uc002nfk.1_Silent_p.A1320A|MYO9B_uc002nfl.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1320	Tail.				actin filament-based movement|Rho protein signal transduction	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1														0.233333	14.122451	16.067277	7	23	CC		KEEP	---	---	---	---	capture			Silent	SNP	17167196	17167196	10480	19	C	T	T	23	23	MYO9B	T	1	1
MYO9B	4650	broad.mit.edu	36	19	17183576	17183576	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17183576C>A	uc010eak.1	+	c.6051C>A	c.(6049-6051)GCC>GCA	p.A2017A	MYO9B_uc002nfi.1_Silent_p.A2017A|MYO9B_uc002nfk.1_Silent_p.A2017A|MYO9B_uc002nfm.1_Silent_p.A177A	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	2017	Tail.				actin filament-based movement|Rho protein signal transduction	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1														0.169014	19.465584	26.824341	12	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	17183576	17183576	10480	19	C	A	A	24	24	MYO9B	A	3	3
NR2F6	2063	broad.mit.edu	36	19	17204343	17204343	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17204343A>G	uc002nfq.1	-	c.1033T>C	c.(1033-1035)TCC>CCC	p.S345P		NM_005234	NP_005225	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	345	Important for dimerization (By similarity).|Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding				0														0.205128	18.789745	21.927465	8	31	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17204343	17204343	11034	19	A	G	G	10	10	NR2F6	G	4	4
USHBP1	83878	broad.mit.edu	36	19	17227233	17227233	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17227233G>A	uc002nfs.1	-	c.1653C>T	c.(1651-1653)AGC>AGT	p.S551S	USHBP1_uc002nfr.1_Silent_p.S177S|USHBP1_uc002nft.1_Non-coding_Transcript	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	551							PDZ domain binding			ovary(1)	1														0.60181	371.482218	373.538181	133	88	GG		KEEP	---	---	---	---	capture			Silent	SNP	17227233	17227233	17599	19	G	A	A	38	38	USHBP1	A	1	1
C19orf62	29086	broad.mit.edu	36	19	17245943	17245943	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17245943G>A	uc002nfu.1	+	c.493G>A	c.(493-495)GAG>AAG	p.E165K	C19orf62_uc010ean.1_Missense_Mutation_p.E86K|C19orf62_uc002nfv.1_Missense_Mutation_p.E165K|C19orf62_uc002nfw.1_Missense_Mutation_p.E165K	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	hypothetical protein LOC29086	165	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			ovary(1)	1														0.195	69.463617	86.782473	39	161	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17245943	17245943	2008	19	G	A	A	37	37	C19orf62	A	1	1
ANKLE1	126549	broad.mit.edu	36	19	17258261	17258261	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17258261G>A	uc002nga.2	+	c.1748G>A	c.(1747-1749)CGC>CAC	p.R583H	ANKLE1_uc010eao.1_Missense_Mutation_p.R579H|ANKLE1_uc002nfy.2_Missense_Mutation_p.R546H|ANKLE1_uc002nfz.2_Missense_Mutation_p.R289H	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	583	Poly-Arg.					nuclear envelope					0														0.424658	74.889293	75.25426	31	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17258261	17258261	635	19	G	A	A	38	38	ANKLE1	A	1	1
ANO8	57719	broad.mit.edu	36	19	17302933	17302933	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17302933G>A	uc002ngf.1	-	c.795C>T	c.(793-795)TTC>TTT	p.F265F	ANO8_uc010eap.1_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	265	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3														0.508021	272.403917	272.414037	95	92	GG		KEEP	---	---	---	---	capture			Silent	SNP	17302933	17302933	711	19	G	A	A	37	37	ANO8	A	1	1
GTPBP3	84705	broad.mit.edu	36	19	17310428	17310428	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17310428G>A	uc002ngg.2	+	c.469G>A	c.(469-471)GAA>AAA	p.E157K	GTPBP3_uc010ear.1_Non-coding_Transcript|GTPBP3_uc002ngh.2_Missense_Mutation_p.E157K|GTPBP3_uc010eas.1_Missense_Mutation_p.E157K|GTPBP3_uc002ngi.2_5'UTR	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform	157					tRNA modification	mitochondrion	GTP binding|GTPase activity				0														0.20122	61.377077	74.996413	33	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17310428	17310428	7161	19	G	A	A	37	37	GTPBP3	A	1	1
PLVAP	83483	broad.mit.edu	36	19	17337155	17337155	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17337155C>A	uc002ngk.1	-	c.1119G>T	c.(1117-1119)GAG>GAT	p.E373D		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	373	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0														0.134615	40.933289	74.620151	35	225	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17337155	17337155	12542	19	C	A	A	28	28	PLVAP	A	3	3
PLVAP	83483	broad.mit.edu	36	19	17337463	17337463	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17337463C>A	uc002ngk.1	-	c.811G>T	c.(811-813)GCC>TCC	p.A271S		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	271	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0														0.143519	43.712582	70.130622	31	185	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17337463	17337463	12542	19	C	A	A	28	28	PLVAP	A	3	3
BST2	684	broad.mit.edu	36	19	17375964	17375964	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17375964G>A	uc002ngl.1	-	c.387C>T	c.(385-387)GAC>GAT	p.D129D		NM_004335	NP_004326	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	129	Extracellular (Potential).|				B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			ovary(3)	3														0.413793	30.894814	31.082673	12	17	GG		KEEP	---	---	---	---	capture			Silent	SNP	17375964	17375964	1566	19	G	A	A	40	40	BST2	A	1	1
BST2	684	broad.mit.edu	36	19	17377127	17377127	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17377127G>T	uc002ngl.1	-	c.258C>A	c.(256-258)GCC>GCA	p.A86A		NM_004335	NP_004326	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	86	Extracellular (Potential).|				B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			ovary(3)	3														0.141176	13.751765	24.310715	12	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	17377127	17377127	1566	19	G	T	T	43	43	BST2	T	3	3
ATP8B3	148229	broad.mit.edu	36	19	1741802	1741802	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1741802C>T	uc002ltw.1	-	c.2332G>A	c.(2332-2334)GAG>AAG	p.E778K	ATP8B3_uc002ltv.1_Missense_Mutation_p.E741K|ATP8B3_uc002ltx.1_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	778	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)												0.52381	31.424454	31.434795	11	10	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1741802	1741802	1215	19	C	T	T	31	31	ATP8B3	T	1	1
NXNL1	115861	broad.mit.edu	36	19	17432624	17432624	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17432624C>T	uc002ngs.1	-	c.55G>A	c.(55-57)GAG>AAG	p.E19K		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	19	Thioredoxin.				cell redox homeostasis	nuclear outer membrane					0														0.297794	197.565245	207.511105	81	191	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17432624	17432624	11193	19	C	T	T	31	31	NXNL1	T	1	1
SLC27A1	376497	broad.mit.edu	36	19	17458372	17458372	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17458372C>T	uc002ngu.1	+	c.168C>T	c.(166-168)TTC>TTT	p.F56F	SLC27A1_uc002ngt.1_Intron	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	56	Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0														0.608696	39.450242	39.687372	14	9	CC		KEEP	---	---	---	---	capture			Silent	SNP	17458372	17458372	15022	19	C	T	T	27	27	SLC27A1	T	1	1
SLC27A1	376497	broad.mit.edu	36	19	17472355	17472355	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17472355G>A	uc002ngu.1	+	c.1385G>A	c.(1384-1386)CGC>CAC	p.R462H	SLC27A1_uc002ngv.1_Missense_Mutation_p.R64H	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	462	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0														0.338983	46.686894	48.036857	20	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17472355	17472355	15022	19	G	A	A	38	38	SLC27A1	A	1	1
PGLS	25796	broad.mit.edu	36	19	17492754	17492754	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17492754G>A	uc002ngw.1	+	c.641G>A	c.(640-642)CGC>CAC	p.R214H	FAM129C_uc010eau.1_5'Flank|FAM129C_uc010eav.1_5'Flank	NM_012088	NP_036220	O95336	6PGL_HUMAN	6-phosphogluconolactonase	214						cytosol	6-phosphogluconolactonase activity				0														0.347826	20.604312	21.069171	8	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17492754	17492754	12215	19	G	A	A	38	38	PGLS	A	1	1
GLT25D1	79709	broad.mit.edu	36	19	17532206	17532206	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17532206G>A	uc002nhc.1	+	c.421G>A	c.(421-423)GAG>AAG	p.E141K		NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	141					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0														0.100629	9.082601	34.404923	16	143	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17532206	17532206	6734	19	G	A	A	37	37	GLT25D1	A	1	1
UNC13A	23025	broad.mit.edu	36	19	17581834	17581834	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17581834G>A	uc002nhd.1	-	c.4990C>T	c.(4990-4992)CCC>TCC	p.P1664S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1576	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3														0.173295	105.624007	140.983424	61	291	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17581834	17581834	17542	19	G	A	A	42	42	UNC13A	A	2	2
UNC13A	23025	broad.mit.edu	36	19	17598587	17598587	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17598587G>A	uc002nhd.1	-	c.4192C>T	c.(4192-4194)CCG>TCG	p.P1398S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1310					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3														0.217391	21.546021	24.919071	10	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17598587	17598587	17542	19	G	A	A	42	42	UNC13A	A	2	2
UNC13A	23025	broad.mit.edu	36	19	17629953	17629953	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17629953G>A	uc002nhd.1	-	c.949C>T	c.(949-951)CGC>TGC	p.R317C		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	229					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3														0.453488	108.531938	108.690741	39	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17629953	17629953	17542	19	G	A	A	37	37	UNC13A	A	1	1
UNC13A	23025	broad.mit.edu	36	19	17641454	17641454	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17641454G>T	uc002nhd.1	-	c.566C>A	c.(565-567)TCC>TAC	p.S189Y		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	101					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3														0.538462	37.762322	37.797938	14	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17641454	17641454	17542	19	G	T	T	41	41	UNC13A	T	3	3
MAP1S	55201	broad.mit.edu	36	19	17698471	17698471	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17698471G>T	uc002nhe.1	+	c.1278G>T	c.(1276-1278)AAG>AAT	p.K426N	MAP1S_uc010eaz.1_Missense_Mutation_p.K39N|MAP1S_uc010eba.1_Missense_Mutation_p.K426N|MAP1S_uc002nhf.1_Intron	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	426	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1														0.307692	9.194074	9.623321	4	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17698471	17698471	9617	19	G	T	T	35	35	MAP1S	T	3	3
FCHO1	23149	broad.mit.edu	36	19	17753585	17753585	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17753585C>T	uc002nhh.1	+	c.1893C>T	c.(1891-1893)GCC>GCT	p.A631A	FCHO1_uc002nhi.1_Silent_p.A87A|FCHO1_uc002nhj.1_5'UTR	NM_015122	NP_055937	O14526	FCHO1_HUMAN	FCH domain only 1	631										breast(1)	1														0.127027	62.736948	113.000423	47	323	CC		KEEP	---	---	---	---	capture			Silent	SNP	17753585	17753585	6024	19	C	T	T	24	24	FCHO1	T	2	2
FCHO1	23149	broad.mit.edu	36	19	17754830	17754830	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17754830C>A	uc002nhh.1	+	c.1942C>A	c.(1942-1944)CTG>ATG	p.L648M	FCHO1_uc002nhi.1_Missense_Mutation_p.L104M|FCHO1_uc002nhj.1_De_novo_Start_InFrame	NM_015122	NP_055937	O14526	FCHO1_HUMAN	FCH domain only 1	648										breast(1)	1														0.154362	35.418382	52.444648	23	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17754830	17754830	6024	19	C	A	A	24	24	FCHO1	A	3	3
B3GNT3	10331	broad.mit.edu	36	19	17779799	17779799	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17779799C>T	uc002nhk.1	+	c.183C>T	c.(181-183)TGC>TGT	p.C61C	B3GNT3_uc002nhl.1_Silent_p.C61C|B3GNT3_uc010ebd.1_Silent_p.C61C|B3GNT3_uc010ebe.1_Silent_p.C61C	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	61	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity				0														0.418182	61.709668	62.03219	23	32	CC		KEEP	---	---	---	---	capture			Silent	SNP	17779799	17779799	1279	19	C	T	T	26	26	B3GNT3	T	2	2
REXO1	57455	broad.mit.edu	36	19	1779492	1779492	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1779492C>T	uc002lua.2	-	c.296G>A	c.(295-297)CGC>CAC	p.R99H	REXO1_uc010dsr.1_Missense_Mutation_p.R53H	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	99	Potential.					nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)												0.226667	33.789067	38.901575	17	58	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1779492	1779492	13711	19	C	T	T	27	27	REXO1	T	1	1
CCDC124	115098	broad.mit.edu	36	19	17908303	17908303	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17908303C>T	uc002nhs.1	+	c.74C>T	c.(73-75)GCC>GTC	p.A25V		NM_138442	NP_612451	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	25	Potential.						DNA binding				0														0.183673	15.79264	20.361046	9	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17908303	17908303	2880	19	C	T	T	26	26	CCDC124	T	2	2
KCNN1	3780	broad.mit.edu	36	19	17945899	17945899	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17945899G>A	uc002nht.1	+	c.202G>A	c.(202-204)GAT>AAT	p.D68N		NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	68					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0														0.397436	82.40188	83.121311	31	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17945899	17945899	8383	19	G	A	A	37	37	KCNN1	A	1	1
KCNN1	3780	broad.mit.edu	36	19	17945991	17945991	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17945991G>A	uc002nht.1	+	c.294G>A	c.(292-294)GCG>GCA	p.A98A		NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	98					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0														0.15	8.542606	15.603216	9	51	GG		KEEP	---	---	---	---	capture			Silent	SNP	17945991	17945991	8383	19	G	A	A	38	38	KCNN1	A	1	1
KCNN1	3780	broad.mit.edu	36	19	17953572	17953572	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17953572C>T	uc002nht.1	+	c.553C>T	c.(553-555)CGC>TGC	p.R185C		NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	185	Helical; Name=Segment S3; (Potential).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0														0.254237	32.598281	35.832536	15	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17953572	17953572	8383	19	C	T	T	27	27	KCNN1	T	1	1
ARRDC2	27106	broad.mit.edu	36	19	17980362	17980362	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17980362C>T	uc002nhv.1	+	c.243C>T	c.(241-243)GTC>GTT	p.V81V	ARRDC2_uc002nhu.1_Intron	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	81										pancreas(1)	1														0.285714	16.470315	17.638876	8	20	CC		KEEP	---	---	---	---	capture			Silent	SNP	17980362	17980362	1001	19	C	T	T	31	31	ARRDC2	T	1	1
IL12RB1	3594	broad.mit.edu	36	19	18040318	18040318	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18040318C>T	uc002nhx.1	-	c.1328G>A	c.(1327-1329)CGA>CAA	p.R443Q	IL12RB1_uc002nhw.1_Missense_Mutation_p.R403Q	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	403	Extracellular (Potential).|Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1														0.169154	116.640691	158.314105	68	334	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18040318	18040318	7927	19	C	T	T	31	31	IL12RB1	T	1	1
IL12RB1	3594	broad.mit.edu	36	19	18049453	18049453	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18049453G>A	uc002nhx.1	-	c.542C>T	c.(541-543)CCT>CTT	p.P181L	IL12RB1_uc002nhw.1_Missense_Mutation_p.P141L|IL12RB1_uc002nhy.1_Missense_Mutation_p.P141L	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	141	Extracellular (Potential).				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1														0.428571	261.380607	262.24995	84	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18049453	18049453	7927	19	G	A	A	35	35	IL12RB1	A	2	2
MAST3	23031	broad.mit.edu	36	19	18095051	18095051	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18095051C>A	uc002nhz.2	+	c.337C>A	c.(337-339)CTC>ATC	p.L113I		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	113					protein phosphorylation		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)	4										374				0.172727	27.041667	38.200272	19	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18095051	18095051	9710	19	C	A	A	32	32	MAST3	A	3	3
MAST3	23031	broad.mit.edu	36	19	18116984	18116984	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18116984C>T	uc002nhz.2	+	c.2897C>T	c.(2896-2898)GCG>GTG	p.A966V		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	966	PDZ.				protein phosphorylation		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)	4										374				0.125413	33.095055	74.523351	38	265	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18116984	18116984	9710	19	C	T	T	27	27	MAST3	T	1	1
PIK3R2	5296	broad.mit.edu	36	19	18135181	18135181	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18135181T>C	uc002nia.1	+	c.1399T>C	c.(1399-1401)TAC>CAC	p.Y467H	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	467					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|central_nervous_system(1)|pancreas(1)	4										186				0.29927	121.038892	125.961811	41	96	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18135181	18135181	12343	19	T	C	C	57	57	PIK3R2	C	4	4
PIK3R2	5296	broad.mit.edu	36	19	18140325	18140325	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18140325G>A	uc002nia.1	+	c.1777G>A	c.(1777-1779)GAG>AAG	p.E593K	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	593					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|central_nervous_system(1)|pancreas(1)	4										186		OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.649123	111.683358	112.799608	37	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18140325	18140325	12343	19	G	A	A	37	37	PIK3R2	A	1	1
PDE4C	5143	broad.mit.edu	36	19	18183664	18183664	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18183664C>A	uc002nik.2	-	c.1696G>T	c.(1696-1698)GCC>TCC	p.A566S	PDE4C_uc002nil.2_Missense_Mutation_p.A566S|PDE4C_uc002nif.2_Missense_Mutation_p.A335S|PDE4C_uc002nig.2_Missense_Mutation_p.A281S|PDE4C_uc002nih.2_Missense_Mutation_p.A336S|PDE4C_uc010ebk.1_Missense_Mutation_p.A460S|PDE4C_uc002nii.2_Missense_Mutation_p.A534S|PDE4C_uc010ebl.1_Missense_Mutation_p.A280S	NM_000923	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific isoform	566					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Dyphylline(DB00651)									0.210744	101.512616	120.234189	51	191	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18183664	18183664	12062	19	C	A	A	26	26	PDE4C	A	3	3
JUND	3727	broad.mit.edu	36	19	18252329	18252329	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18252329C>T	uc002nip.2	-	c.966G>A	c.(964-966)GCG>GCA	p.A322A		NM_005354	NP_005345	P17535	JUND_HUMAN	jun D proto-oncogene	322	Leucine-zipper.					chromatin|nucleus	promoter binding|protein dimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0										22				0.272727	25.878153	27.929159	12	32	CC		KEEP	---	---	---	---	capture			Silent	SNP	18252329	18252329	8275	19	C	T	T	27	27	JUND	T	1	1
PGPEP1	54858	broad.mit.edu	36	19	18335210	18335210	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18335210C>T	uc002nis.1	+	c.447C>T	c.(445-447)TGC>TGT	p.C149C	PGPEP1_uc002nir.1_Intron|PGPEP1_uc002nit.1_Silent_p.C72C|PGPEP1_uc010ebo.1_Missense_Mutation_p.A171V	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	149		By similarity.					cysteine-type peptidase activity				0														0.109091	8.328222	24.974848	12	98	CC		KEEP	---	---	---	---	capture			Silent	SNP	18335210	18335210	12226	19	C	T	T	27	27	PGPEP1	T	1	1
CRLF1	9244	broad.mit.edu	36	19	18568561	18568561	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18568561C>T	uc010ebt.1	-	c.895G>A	c.(895-897)GCC>ACC	p.A299T		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	299	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1														0.117021	9.767874	23.324406	11	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18568561	18568561	4025	19	C	T	T	26	26	CRLF1	T	2	2
TMEM59L	25789	broad.mit.edu	36	19	18590022	18590022	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18590022G>A	uc002njy.2	+	c.722G>A	c.(721-723)AGC>AAC	p.S241N		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	241						Golgi membrane|integral to membrane|membrane fraction				ovary(2)	2														0.348066	161.061219	164.752828	63	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18590022	18590022	16725	19	G	A	A	34	34	TMEM59L	A	2	2
KLHL26	55295	broad.mit.edu	36	19	18640381	18640381	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18640381C>T	uc002njz.1	+	c.1174C>T	c.(1174-1176)CGC>TGC	p.R392C		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	392	Kelch 2.									ovary(1)	1														0.162162	9.038698	13.046085	6	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18640381	18640381	8693	19	C	T	T	31	31	KLHL26	T	1	1
KLHL26	55295	broad.mit.edu	36	19	18640772	18640772	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18640772G>A	uc002njz.1	+	c.1565G>A	c.(1564-1566)CGC>CAC	p.R522H		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	522	Kelch 5.									ovary(1)	1														0.2	56.46735	69.026069	30	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18640772	18640772	8693	19	G	A	A	38	38	KLHL26	A	1	1
CRTC1	23373	broad.mit.edu	36	19	18731945	18731945	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18731945G>A	uc010ebv.1	+	c.841G>A	c.(841-843)GAG>AAG	p.E281K	CRTC1_uc002nkb.2_Missense_Mutation_p.E265K|CRTC1_uc010ebw.1_Missense_Mutation_p.E130K|CRTC1_uc002nkc.2_Missense_Mutation_p.E130K	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	265					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding			ovary(1)|lung(1)|breast(1)	3										173				0.391667	127.189612	128.425488	47	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18731945	18731945	4038	19	G	A	A	37	37	CRTC1	A	1	1
UPF1	5976	broad.mit.edu	36	19	18824051	18824051	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18824051C>T	uc002nkg.1	+	c.918C>T	c.(916-918)TTC>TTT	p.F306F	UPF1_uc002nkf.1_Silent_p.F306F	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	306	Sufficient for interaction with RENT2.				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)	1														0.525641	355.012655	355.145611	123	111	CC		KEEP	---	---	---	---	capture			Silent	SNP	18824051	18824051	17563	19	C	T	T	31	31	UPF1	T	1	1
UPF1	5976	broad.mit.edu	36	19	18824840	18824840	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18824840G>A	uc002nkg.1	+	c.1017G>A	c.(1015-1017)AAG>AAA	p.K339K	UPF1_uc002nkf.1_Silent_p.K339K	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	339	Sufficient for interaction with RENT2.				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)	1														0.174074	87.738214	114.84582	47	223	GG		KEEP	---	---	---	---	capture			Silent	SNP	18824840	18824840	17563	19	G	A	A	33	33	UPF1	A	2	2
UPF1	5976	broad.mit.edu	36	19	18828029	18828029	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18828029G>T	uc002nkg.1	+	c.1777G>T	c.(1777-1779)GAC>TAC	p.D593Y	UPF1_uc002nkf.1_Missense_Mutation_p.D582Y	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	593					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)	1														0.142045	28.154809	49.918828	25	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18828029	18828029	17563	19	G	T	T	33	33	UPF1	T	3	3
UPF1	5976	broad.mit.edu	36	19	18828799	18828799	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18828799C>T	uc002nkg.1	+	c.1971C>T	c.(1969-1971)TGC>TGT	p.C657C	UPF1_uc002nkf.1_Silent_p.C646C|UPF1_uc002nkh.1_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	657					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)	1														0.16092	74.952112	113.129199	56	292	CC		KEEP	---	---	---	---	capture			Silent	SNP	18828799	18828799	17563	19	C	T	T	25	25	UPF1	T	2	2
LASS1	10715	broad.mit.edu	36	19	18865290	18865290	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18865290T>C	uc002nkj.1	-	c.344A>G	c.(343-345)TAC>TGC	p.Y115C	GDF1_uc002nki.1_5'UTR|LASS1_uc010ebx.1_Missense_Mutation_p.Y17C	NM_198207	NP_937850	P27544	LASS1_HUMAN	longevity assurance gene 1 isoform 2	115	TLC.|Helical; (Potential).				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity				0														0.388889	42.935315	43.326045	14	22	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18865290	18865290	8961	19	T	C	C	57	57	LASS1	C	4	4
DDX49	54555	broad.mit.edu	36	19	18896071	18896071	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18896071G>A	uc002nkq.1	+	c.806G>A	c.(805-807)CGC>CAC	p.R269H	HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nkr.1_Non-coding_Transcript|DDX49_uc002nks.1_Missense_Mutation_p.R162H|DDX49_uc002nkt.1_Missense_Mutation_p.R151H	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	269	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1														0.506024	230.998553	231.004098	84	82	GG		KEEP	---	---	---	---	capture	Epithelial(12;0.0289)		Missense_Mutation	SNP	18896071	18896071	4537	19	G	A	A	38	38	DDX49	A	1	1
DDX49	54555	broad.mit.edu	36	19	18899958	18899958	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18899958C>T	uc002nkq.1	+	c.1285C>T	c.(1285-1287)CGC>TGC	p.R429C	HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nkr.1_Non-coding_Transcript|DDX49_uc002nks.1_Missense_Mutation_p.R322C	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	429							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1														0.172414	8.457915	11.398313	5	24	CC		KEEP	---	---	---	---	capture	Epithelial(12;0.0289)		Missense_Mutation	SNP	18899958	18899958	4537	19	C	T	T	27	27	DDX49	T	1	1
HOMER3	9454	broad.mit.edu	36	19	18904790	18904790	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18904790C>T	uc002nku.1	-	c.476G>A	c.(475-477)AGC>AAC	p.S159N	HOMER3_uc002nkp.1_Non-coding_Transcript|HOMER3_uc002nko.1_Non-coding_Transcript|HOMER3_uc010eby.1_Missense_Mutation_p.S123N|HOMER3_uc010ebz.1_Missense_Mutation_p.S159N|HOMER3_uc002nkv.1_Missense_Mutation_p.S159N	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3	159					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0														0.173469	52.930949	72.697819	34	162	CC		KEEP	---	---	---	---	capture	Epithelial(12;0.0107)		Missense_Mutation	SNP	18904790	18904790	7572	19	C	T	T	28	28	HOMER3	T	2	2
ARMC6	93436	broad.mit.edu	36	19	19023498	19023498	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19023498G>A	uc002nld.1	+	c.347G>A	c.(346-348)CGC>CAC	p.R116H	ARMC6_uc002nlc.1_Missense_Mutation_p.R91H|ARMC6_uc002nle.1_Missense_Mutation_p.R91H	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	116							protein binding				0														0.341693	260.846022	267.924924	109	210	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		Missense_Mutation	SNP	19023498	19023498	973	19	G	A	A	38	38	ARMC6	A	1	1
TMEM161A	54929	broad.mit.edu	36	19	19092829	19092829	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19092829C>T	uc002nlg.1	-	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H	TMEM161A_uc010eca.1_Non-coding_Transcript|TMEM161A_uc002nlh.1_Missense_Mutation_p.R329H|TMEM161A_uc002nli.1_Missense_Mutation_p.R251H|TMEM161A_uc002nlj.1_Missense_Mutation_p.R229H	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A	354	Extracellular (Potential).				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2														0.510791	197.349996	197.365486	71	68	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		Missense_Mutation	SNP	19092829	19092829	16610	19	C	T	T	27	27	TMEM161A	T	1	1
TMEM161A	54929	broad.mit.edu	36	19	19104255	19104255	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19104255A>G	uc002nlg.1	-	c.349T>C	c.(349-351)TAC>CAC	p.Y117H	TMEM161A_uc010eca.1_Non-coding_Transcript|TMEM161A_uc002nlh.1_Intron|TMEM161A_uc002nli.1_Intron|TMEM161A_uc002nlj.1_5'UTR	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A	117	Helical; (Potential).				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2														0.134276	64.509607	101.172076	38	245	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		Missense_Mutation	SNP	19104255	19104255	16610	19	A	G	G	14	14	TMEM161A	G	4	4
NCAN	1463	broad.mit.edu	36	19	19196958	19196958	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19196958G>A	uc002nlz.1	+	c.951G>A	c.(949-951)CCG>CCA	p.P317P	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3	317	Link 2.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4														0.26087	11.650776	12.835724	6	17	GG		KEEP	---	---	---	---	capture	Epithelial(12;0.00544)		Silent	SNP	19196958	19196958	10603	19	G	A	A	37	37	NCAN	A	1	1
CSNK1G2	1455	broad.mit.edu	36	19	1920910	1920910	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1920910C>T	uc002lul.2	+	c.139C>T	c.(139-141)CGC>TGC	p.R47C	CSNK1G2_uc010dsu.1_5'UTR	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	47	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity				0		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)				Ovarian(91;880 1392 21236 36928 37598)				388				0.132353	12.331498	21.257062	9	59	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1920910	1920910	4096	19	C	T	T	23	23	CSNK1G2	T	1	1
NCAN	1463	broad.mit.edu	36	19	19220640	19220640	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19220640C>T	uc002nlz.1	+	c.3769C>T	c.(3769-3771)CGA>TGA	p.R1257*	NCAN_uc002nma.1_Silent_p.F12F	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3	1257	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4														0.316092	140.56155	145.796406	55	119	CC		KEEP	---	---	---	---	capture	Epithelial(12;0.00544)		Nonsense_Mutation	SNP	19220640	19220640	10603	19	C	T	T	31	31	NCAN	T	5	1
HAPLN4	404037	broad.mit.edu	36	19	19229831	19229831	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19229831G>A	uc002nmb.1	-	c.1004C>T	c.(1003-1005)CCG>CTG	p.P335L	HAPLN4_uc002nmc.1_Missense_Mutation_p.P335L	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	335	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1														0.428571	8.423595	8.454793	3	4	GG		KEEP	---	---	---	---	capture	Epithelial(12;0.00575)		Missense_Mutation	SNP	19229831	19229831	7239	19	G	A	A	39	39	HAPLN4	A	1	1
TM6SF2	53345	broad.mit.edu	36	19	19242207	19242207	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19242207C>T	uc002nmd.1	-	c.244G>A	c.(244-246)GCT>ACT	p.A82T	HAPLN4_uc002nmc.1_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	82	Helical; (Potential).					integral to membrane					0														0.136364	18.578762	32.643345	15	95	CC		KEEP	---	---	---	---	capture	Epithelial(12;0.0151)		Missense_Mutation	SNP	19242207	19242207	16503	19	C	T	T	27	27	TM6SF2	T	1	1
BTBD2	55643	broad.mit.edu	36	19	1944045	1944045	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1944045C>T	uc002lup.1	-	c.658G>A	c.(658-660)GAC>AAC	p.D220N	BTBD2_uc002luo.1_5'Flank	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	220						cytoplasmic mRNA processing body	protein binding			ovary(1)	1		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)												0.162162	8.321221	12.345549	6	31	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	1944045	1944045	1577	19	C	T	T	31	31	BTBD2	T	1	1
GATAD2A	54815	broad.mit.edu	36	19	19467652	19467652	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19467652G>A	uc002nmm.2	+	c.714G>A	c.(712-714)GCG>GCA	p.A238A	GATAD2A_uc002nmp.2_Silent_p.A95A	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	238					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding				0														0.585714	240.275517	241.179317	82	58	GG		KEEP	---	---	---	---	capture			Silent	SNP	19467652	19467652	6524	19	G	A	A	37	37	GATAD2A	A	1	1
GATAD2A	54815	broad.mit.edu	36	19	19467902	19467902	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19467902G>A	uc002nmm.2	+	c.798G>A	c.(796-798)CCG>CCA	p.P266P	GATAD2A_uc002nmp.2_Silent_p.P123P	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	266					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding				0														0.125	13.398063	30.926522	16	112	GG		KEEP	---	---	---	---	capture			Silent	SNP	19467902	19467902	6524	19	G	A	A	38	38	GATAD2A	A	1	1
TSSK6	83983	broad.mit.edu	36	19	19487212	19487212	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19487212C>T	uc002nmr.1	-	c.25G>A	c.(25-27)GAA>AAA	p.E9K	TSSK6_uc002nmq.2_Non-coding_Transcript|NDUFA13_uc002nms.2_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	serine/threonine protein kinase SSTK	9					multicellular organismal development|protein phosphorylation|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0										1				0.192893	68.036059	85.392753	38	159	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19487212	19487212	17225	19	C	T	T	31	31	TSSK6	T	1	1
CILP2	148113	broad.mit.edu	36	19	19515133	19515133	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19515133G>T	uc002nmw.2	+	c.1072G>T	c.(1072-1074)GAC>TAC	p.D358Y	CILP2_uc002nmv.2_Missense_Mutation_p.D352Y	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	352	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.123288	22.360237	52.796508	27	192	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19515133	19515133	3564	19	G	T	T	33	33	CILP2	T	3	3
CILP2	148113	broad.mit.edu	36	19	19515864	19515864	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19515864G>A	uc002nmw.2	+	c.1528G>A	c.(1528-1530)GCC>ACC	p.A510T	CILP2_uc002nmv.2_Missense_Mutation_p.A504T	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	504						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.608696	149.297468	150.256202	56	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19515864	19515864	3564	19	G	A	A	38	38	CILP2	A	1	1
CILP2	148113	broad.mit.edu	36	19	19516557	19516557	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19516557C>T	uc002nmw.2	+	c.2221C>T	c.(2221-2223)CGC>TGC	p.R741C	CILP2_uc002nmv.2_Missense_Mutation_p.R735C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	735						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.171875	20.687853	27.199935	11	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19516557	19516557	3564	19	C	T	T	23	23	CILP2	T	1	1
LPAR2	9170	broad.mit.edu	36	19	19599055	19599055	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19599055G>A	uc002nnb.2	-	c.39C>T	c.(37-39)ATC>ATT	p.I13I	LPAR2_uc002nna.2_Silent_p.I13I|LPAR2_uc002nnc.2_Silent_p.I13I	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	13	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding				0														0.329609	148.451338	153.064656	59	120	GG		KEEP	---	---	---	---	capture			Silent	SNP	19599055	19599055	9278	19	G	A	A	37	37	LPAR2	A	1	1
GMIP	51291	broad.mit.edu	36	19	19605896	19605896	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19605896C>T	uc002nnd.1	-	c.2188G>A	c.(2188-2190)GCC>ACC	p.A730T		NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	730	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1														0.530769	185.409369	185.522416	69	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19605896	19605896	6760	19	C	T	T	27	27	GMIP	T	1	1
GMIP	51291	broad.mit.edu	36	19	19609785	19609785	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19609785G>A	uc002nnd.1	-	c.871C>T	c.(871-873)CGA>TGA	p.R291*		NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	291					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1														0.578313	134.81031	135.25714	48	35	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19609785	19609785	6760	19	G	A	A	38	38	GMIP	A	5	1
ATP13A1	57130	broad.mit.edu	36	19	19628569	19628569	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19628569G>A	uc002nnh.2	-	c.983C>T	c.(982-984)TCC>TTC	p.S328F	ATP13A1_uc002nnf.2_5'Flank|ATP13A1_uc002nng.1_Missense_Mutation_p.S210F	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	328	Extracellular (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(3)|large_intestine(2)|central_nervous_system(1)	6						Esophageal Squamous(142;920 1789 9047 14684 24777)								0.116883	8.619423	19.739372	9	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19628569	19628569	1142	19	G	A	A	41	41	ATP13A1	A	2	2
ZNF14	7561	broad.mit.edu	36	19	19684458	19684458	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19684458G>T	uc002nnk.1	-	c.632C>A	c.(631-633)TCT>TAT	p.S211Y		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	211	C2H2-type 4; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)												0.154717	57.880893	88.105545	41	224	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19684458	19684458	18319	19	G	T	T	33	33	ZNF14	T	3	3
ZNF93	81931	broad.mit.edu	36	19	19906264	19906264	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19906264G>T	uc002non.1	+	c.1500G>T	c.(1498-1500)AAG>AAT	p.K500N		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	500	C2H2-type 13.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1														0.193309	95.721977	119.363585	52	217	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19906264	19906264	18806	19	G	T	T	33	33	ZNF93	T	3	3
ZNF682	91120	broad.mit.edu	36	19	19978586	19978586	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19978586G>A	uc002noq.1	-	c.725C>T	c.(724-726)TCG>TTG	p.S242L	ZNF682_uc002noo.1_Missense_Mutation_p.S210L|ZNF682_uc002nop.1_Missense_Mutation_p.S210L|ZNF682_uc010eck.1_Missense_Mutation_p.S166L	NM_033196	NP_001070817	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	242	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.188073	79.843253	99.704917	41	177	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19978586	19978586	18684	19	G	A	A	37	37	ZNF682	A	1	1
ZNF486	90649	broad.mit.edu	36	19	20169880	20169880	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:20169880G>A	uc002nou.2	+	c.1361G>A	c.(1360-1362)AGA>AAA	p.R454K		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	454	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.196078	20.018245	24.411202	10	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20169880	20169880	18533	19	G	A	A	33	33	ZNF486	A	2	2
ZNF626	199777	broad.mit.edu	36	19	20599369	20599369	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:20599369G>T	uc002npb.1	-	c.1154C>A	c.(1153-1155)ACT>AAT	p.T385N	ZNF626_uc002npc.1_Missense_Mutation_p.T309N	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	385	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.362126	300.776102	305.818113	109	192	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20599369	20599369	18645	19	G	T	T	36	36	ZNF626	T	3	3
AP3D1	8943	broad.mit.edu	36	19	2068250	2068250	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2068250C>A	uc002lva.1	-	c.1830G>T	c.(1828-1830)AAG>AAT	p.K610N	AP3D1_uc002luy.1_Missense_Mutation_p.K519N|AP3D1_uc002luz.1_Missense_Mutation_p.K610N	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	610					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)												0.184466	34.962633	44.585141	19	84	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	2068250	2068250	756	19	C	A	A	24	24	AP3D1	A	3	3
ZNF85	7639	broad.mit.edu	36	19	20923970	20923970	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:20923970C>A	uc002npg.2	+	c.810C>A	c.(808-810)TTC>TTA	p.F270L	ZNF85_uc010ecn.1_Missense_Mutation_p.F205L|ZNF85_uc010eco.1_Missense_Mutation_p.F218L|ZNF85_uc002npi.1_Missense_Mutation_p.F211L	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	270	C2H2-type 5.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1														0.516129	175.380646	175.407956	64	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20923970	20923970	18795	19	C	A	A	32	32	ZNF85	A	3	3
ZNF430	80264	broad.mit.edu	36	19	21031295	21031295	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21031295C>T	uc002npj.1	+	c.341C>T	c.(340-342)GCC>GTC	p.A114V	ZNF430_uc002npk.1_Missense_Mutation_p.A113V	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.441176	168.274602	168.685542	60	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21031295	21031295	18497	19	C	T	T	26	26	ZNF430	T	2	2
ZNF708	7562	broad.mit.edu	36	19	21268410	21268410	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21268410C>T	uc002npq.1	-	c.1198G>A	c.(1198-1200)GCC>ACC	p.A400T	ZNF708_uc002npr.1_Missense_Mutation_p.A336T|ZNF708_uc010ecs.1_Missense_Mutation_p.A336T	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	400	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)	4														0.231405	127.17686	143.172627	56	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21268410	21268410	18708	19	C	T	T	28	28	ZNF708	T	2	2
ZNF493	284443	broad.mit.edu	36	19	21398416	21398416	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21398416C>A	uc002npw.1	+	c.1115C>A	c.(1114-1116)ACT>AAT	p.T372N	ZNF493_uc002npx.1_Missense_Mutation_p.T244N|ZNF493_uc002npy.1_Missense_Mutation_p.T244N|ZNF493_uc010ect.1_Missense_Mutation_p.T244N	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 3	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.509346	332.365489	332.381443	109	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21398416	21398416	18538	19	C	A	A	20	20	ZNF493	A	3	3
ZNF493	284443	broad.mit.edu	36	19	21398931	21398931	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21398931C>T	uc002npw.1	+	c.1630C>T	c.(1630-1632)CCC>TCC	p.P544S	ZNF493_uc002npx.1_Missense_Mutation_p.P416S|ZNF493_uc002npy.1_Missense_Mutation_p.P416S|ZNF493_uc010ect.1_Missense_Mutation_p.P416S	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 3	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.1375	28.347646	48.689232	22	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21398931	21398931	18538	19	C	T	T	18	18	ZNF493	T	2	2
ZNF493	284443	broad.mit.edu	36	19	21399067	21399067	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21399067C>A	uc002npw.1	+	c.1766C>A	c.(1765-1767)ACT>AAT	p.T589N	ZNF493_uc002npx.1_Missense_Mutation_p.T461N|ZNF493_uc002npy.1_Missense_Mutation_p.T461N|ZNF493_uc010ect.1_Missense_Mutation_p.T461N	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 3	461	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.151786	27.198478	40.206885	17	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21399067	21399067	18538	19	C	A	A	20	20	ZNF493	A	3	3
ZNF493	284443	broad.mit.edu	36	19	21399161	21399161	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21399161G>A	uc002npw.1	+	c.1860G>A	c.(1858-1860)AAG>AAA	p.K620K	ZNF493_uc002npx.1_Silent_p.K492K|ZNF493_uc002npy.1_Silent_p.K492K|ZNF493_uc010ect.1_Silent_p.K492K	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 3	492	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.367647	143.772841	145.882724	50	86	GG		KEEP	---	---	---	---	capture			Silent	SNP	21399161	21399161	18538	19	G	A	A	33	33	ZNF493	A	2	2
ZNF429	353088	broad.mit.edu	36	19	21510957	21510957	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21510957G>T	uc002nqd.1	+	c.262G>T	c.(262-264)GAG>TAG	p.E88*	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.157143	32.147311	47.865408	22	118	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	21510957	21510957	18495	19	G	T	T	33	33	ZNF429	T	5	3
ZNF43	7594	broad.mit.edu	36	19	21793828	21793828	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21793828G>A	uc002nqj.1	-	c.39C>T	c.(37-39)TTC>TTT	p.F13F	ZNF43_uc002nqk.1_Intron|ZNF43_uc010ecv.1_Silent_p.F7F|ZNF43_uc002nql.1_Silent_p.F7F|ZNF43_uc002nqm.1_Silent_p.F7F	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	13	KRAB.				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)												0.571429	514.516379	515.820185	168	126	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	Silent	SNP	21793828	21793828	18496	19	G	A	A	33	33	ZNF43	A	2	2
ZNF208	7757	broad.mit.edu	36	19	21947041	21947041	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21947041G>A	uc002nqp.1	-	c.2335C>T	c.(2335-2337)CAT>TAT	p.H779Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.570048	342.850028	343.731465	118	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21947041	21947041	18357	19	G	A	A	45	45	ZNF208	A	2	2
ZNF208	7757	broad.mit.edu	36	19	21948938	21948938	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21948938T>C	uc002nqp.1	-	c.738A>G	c.(736-738)AAA>AAG	p.K246K	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.190789	72.996043	86.569848	29	123	TT		KEEP	---	---	---	---	capture			Silent	SNP	21948938	21948938	18357	19	T	C	C	60	60	ZNF208	C	4	4
JSRP1	126306	broad.mit.edu	36	19	2203501	2203501	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2203501C>A	uc002lvi.1	-	c.823G>T	c.(823-825)GAA>TAA	p.E275*	JSRP1_uc002lvj.1_Nonsense_Mutation_p.E275*	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	275	Arg-rich.					sarcoplasmic reticulum membrane				pancreas(1)	1														0.155556	26.705763	42.004561	21	114	CC		KEEP	---	---	---	---	capture		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)	Nonsense_Mutation	SNP	2203501	2203501	8270	19	C	A	A	30	30	JSRP1	A	5	3
ZNF676	163223	broad.mit.edu	36	19	22154892	22154892	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:22154892G>T	uc002nqs.1	-	c.1467C>A	c.(1465-1467)TTC>TTA	p.F489L		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	489	C2H2-type 12.				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)												0.301075	200.167142	210.043523	84	195	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22154892	22154892	18678	19	G	T	T	33	33	ZNF676	T	3	3
C19orf35	374872	broad.mit.edu	36	19	2227312	2227312	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2227312C>T	uc002lvn.1	-	c.789G>A	c.(787-789)GCG>GCA	p.A263A	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	263										pancreas(1)	1														0.709677	57.630817	58.844289	22	9	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	2227312	2227312	1983	19	C	T	T	27	27	C19orf35	T	1	1
ZNF98	148198	broad.mit.edu	36	19	22377457	22377457	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:22377457C>A	uc002nqt.2	-	c.227G>T	c.(226-228)AGA>ATA	p.R76I		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)												0.134276	42.53134	79.281488	38	245	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22377457	22377457	18807	19	C	A	A	32	32	ZNF98	A	3	3
ZNF492	57615	broad.mit.edu	36	19	22638500	22638500	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:22638500C>T	uc002nqw.2	+	c.189C>T	c.(187-189)TTC>TTT	p.F63F		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)												0.173077	16.439845	21.691506	9	43	CC		KEEP	---	---	---	---	capture			Silent	SNP	22638500	22638500	18537	19	C	T	T	30	30	ZNF492	T	2	2
ZNF99	7652	broad.mit.edu	36	19	22730942	22730942	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:22730942C>A	uc002nqx.1	-	c.3016G>T	c.(3016-3018)GGG>TGG	p.G1006W		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	1006					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.176744	65.000218	86.193074	38	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22730942	22730942	18808	19	C	A	A	24	24	ZNF99	A	3	3
ZNF99	7652	broad.mit.edu	36	19	22731325	22731325	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:22731325C>T	uc002nqx.1	-	c.2686G>A	c.(2686-2688)GGT>AGT	p.G896S		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	896	C2H2-type 26.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.220974	141.965917	161.116278	59	208	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22731325	22731325	18808	19	C	T	T	24	24	ZNF99	T	2	2
ZNF99	7652	broad.mit.edu	36	19	22743936	22743936	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:22743936C>A	uc002nqx.1	-	c.97G>T	c.(97-99)GAA>TAA	p.E33*		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.141463	37.321241	62.763085	29	176	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	22743936	22743936	18808	19	C	A	A	32	32	ZNF99	A	5	3
ZNF681	148213	broad.mit.edu	36	19	23718512	23718512	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:23718512T>C	uc002nrk.2	-	c.1680A>G	c.(1678-1680)AAA>AAG	p.K560K	ZNF681_uc002nrl.2_Silent_p.K491K|ZNF681_uc002nrj.2_Silent_p.K491K	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)												0.553299	374.589493	375.078107	109	88	TT		KEEP	---	---	---	---	capture			Silent	SNP	23718512	23718512	18683	19	T	C	C	60	60	ZNF681	C	4	4
ZNF681	148213	broad.mit.edu	36	19	23719646	23719646	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:23719646A>C	uc002nrk.2	-	c.546T>G	c.(544-546)TTT>TTG	p.F182L	ZNF681_uc002nrl.2_Missense_Mutation_p.F113L|ZNF681_uc002nrj.2_Missense_Mutation_p.F113L	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)												0.5	61.350533	61.350533	18	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23719646	23719646	18683	19	A	C	C	1	1	ZNF681	C	4	4
TMPRSS9	360200	broad.mit.edu	36	19	2372996	2372996	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2372996G>T	uc002lvw.1	+	c.2197G>T	c.(2197-2199)GAG>TAG	p.E733*		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	733	Extracellular (Potential).|Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.16055	46.32473	70.377588	35	183	GG		KEEP	---	---	---	---	capture		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)	Nonsense_Mutation	SNP	2372996	2372996	16794	19	G	T	T	41	41	TMPRSS9	T	5	3
ZNF254	9534	broad.mit.edu	36	19	24101069	24101069	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:24101069A>G	uc002nru.1	+	c.427A>G	c.(427-429)AAC>GAC	p.N143D		NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	143					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)												0.205405	102.564386	117.439221	38	147	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24101069	24101069	18389	19	A	G	G	13	13	ZNF254	G	4	4
ZNF254	9534	broad.mit.edu	36	19	24102271	24102271	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:24102271G>T	uc002nru.1	+	c.1629G>T	c.(1627-1629)GAG>GAT	p.E543D		NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	543					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)												0.422222	199.244023	200.199188	76	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24102271	24102271	18389	19	G	T	T	33	33	ZNF254	T	3	3
ZNF254	9534	broad.mit.edu	36	19	24102507	24102507	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:24102507G>A	uc002nru.1	+	c.1865G>A	c.(1864-1866)AGA>AAA	p.R622K		NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	622	C2H2-type 15.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)												0.192171	118.272894	143.152286	54	227	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24102507	24102507	18389	19	G	A	A	33	33	ZNF254	A	2	2
SGTA	6449	broad.mit.edu	36	19	2713564	2713564	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2713564G>A	uc002lwi.1	-	c.576C>T	c.(574-576)AAC>AAT	p.N192N		NM_003021	NP_003012	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide	192	TPR 3.				interspecies interaction between organisms	cytoplasm	protein binding			ovary(1)	1		Hepatocellular(1079;0.137)												0.144737	58.420091	95.263932	44	260	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	2713564	2713564	14716	19	G	A	A	40	40	SGTA	A	1	1
ZNF554	115196	broad.mit.edu	36	19	2783331	2783331	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2783331G>A	uc002lwm.2	+	c.284G>A	c.(283-285)GGG>GAG	p.G95E	ZNF554_uc002lwl.2_Missense_Mutation_p.G44E	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	95	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)												0.143258	80.498049	124.137371	51	305	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	2783331	2783331	18580	19	G	A	A	43	43	ZNF554	A	2	2
ZNF554	115196	broad.mit.edu	36	19	2785542	2785542	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2785542G>A	uc002lwm.2	+	c.1309G>A	c.(1309-1311)GAA>AAA	p.E437K	ZNF554_uc002lwl.2_Missense_Mutation_p.E386K	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	437	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)												0.576389	247.033007	247.764405	83	61	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	2785542	2785542	18580	19	G	A	A	37	37	ZNF554	A	1	1
ZNF555	148254	broad.mit.edu	36	19	2804806	2804806	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2804806A>G	uc002lwo.1	+	c.1743A>G	c.(1741-1743)CGA>CGG	p.R581R	ZNF555_uc002lwn.2_Silent_p.R580R	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	581	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.373444	292.090185	295.479284	90	151	AA		KEEP	---	---	---	---	capture		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)	Silent	SNP	2804806	2804806	18581	19	A	G	G	10	10	ZNF555	G	4	4
ZNF555	148254	broad.mit.edu	36	19	2804902	2804902	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2804902C>T	uc002lwo.1	+	c.1839C>T	c.(1837-1839)CAC>CAT	p.H613H	ZNF555_uc002lwn.2_Silent_p.H612H	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.139535	51.112167	83.512045	36	222	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	2804902	2804902	18581	19	C	T	T	18	18	ZNF555	T	2	2
ZNF57	126295	broad.mit.edu	36	19	2868267	2868267	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2868267G>T	uc002lwr.1	+	c.648G>T	c.(646-648)AAG>AAT	p.K216N		NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	216	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						NSCLC(150;910 1964 4303 10464 26498)								0.33557	121.485247	125.058824	50	99	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	2868267	2868267	18596	19	G	T	T	33	33	ZNF57	T	3	3
ZNF77	58492	broad.mit.edu	36	19	2884958	2884958	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2884958G>A	uc002lws.2	-	c.1167C>T	c.(1165-1167)TTC>TTT	p.F389F		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	389	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1														0.302222	171.304555	179.1683	68	157	GG		KEEP	---	---	---	---	capture		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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	2884958	2884958	18740	19	G	A	A	37	37	ZNF77	A	1	1
TLE6	79816	broad.mit.edu	36	19	2938912	2938912	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2938912G>A	uc010dtg.1	+	c.642G>A	c.(640-642)GAG>GAA	p.E214E	TLE6_uc002lwt.1_Silent_p.E91E|TLE6_uc002lwu.1_Silent_p.E91E|TLE6_uc002lwv.1_5'UTR	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	91						nucleus				ovary(1)	1														0.285714	64.063176	67.526203	24	60	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	2938912	2938912	16472	19	G	A	A	35	35	TLE6	A	2	2
TLE2	7089	broad.mit.edu	36	19	2979725	2979725	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2979725A>C	uc010dth.1	-	c.101T>G	c.(100-102)TTT>TGT	p.F34C	TLE2_uc002lww.1_Missense_Mutation_p.F34C|TLE2_uc010dti.1_Missense_Mutation_p.F47C	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	34	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0														0.14359	49.475567	73.326065	28	167	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	2979725	2979725	16469	19	A	C	C	1	1	TLE2	C	4	4
GNA11	2767	broad.mit.edu	36	19	3070007	3070007	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3070007G>A	uc002lxd.1	+	c.691G>A	c.(691-693)GCC>ACC	p.A231T		NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	231					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)												0.559603	484.225227	485.171173	169	133	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	Missense_Mutation	SNP	3070007	3070007	6768	19	G	A	A	38	38	GNA11	A	1	1
GNA11	2767	broad.mit.edu	36	19	3070218	3070218	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3070218G>T	uc002lxd.1	+	c.750G>T	c.(748-750)GAG>GAT	p.E250D		NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	250					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)												0.157895	57.067375	88.93152	45	240	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	Missense_Mutation	SNP	3070218	3070218	6768	19	G	T	T	33	33	GNA11	T	3	3
GNA11	2767	broad.mit.edu	36	19	3070353	3070353	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3070353C>T	uc002lxd.1	+	c.885C>T	c.(883-885)TTC>TTT	p.F295F		NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	295					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)												0.147929	35.679806	55.786467	25	144	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	Silent	SNP	3070353	3070353	6768	19	C	T	T	31	31	GNA11	T	1	1
GNA15	2769	broad.mit.edu	36	19	3106857	3106857	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3106857G>T	uc002lxf.2	+	c.651G>T	c.(649-651)AAG>AAT	p.K217N		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	217					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity				0		Hepatocellular(1079;0.137)												0.38125	150.901997	152.891993	61	99	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	Missense_Mutation	SNP	3106857	3106857	6772	19	G	T	T	33	33	GNA15	T	3	3
THEG	51298	broad.mit.edu	36	19	313418	313418	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:313418C>T	uc002lol.1	-	c.922G>A	c.(922-924)GCT>ACT	p.A308T	THEG_uc002lom.1_Missense_Mutation_p.A284T	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	308	THEG 5.				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)												0.488789	337.059241	337.083792	109	114	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	313418	313418	16385	19	C	T	T	28	28	THEG	T	2	2
CELF5	60680	broad.mit.edu	36	19	3244326	3244326	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3244326G>A	uc002lxm.1	+	c.1340G>A	c.(1339-1341)AGC>AAC	p.S447N	CELF5_uc002lxl.1_Silent_p.E433E|CELF5_uc010dtj.1_Silent_p.E408E|CELF5_uc002lxn.2_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	447	RRM 3.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.565217	295.19702	295.878272	104	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3244326	3244326	3352	19	G	A	A	34	34	CELF5	A	2	2
THEG	51298	broad.mit.edu	36	19	326804	326804	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:326804C>T	uc002lol.1	-	c.167G>A	c.(166-168)GGA>GAA	p.G56E	THEG_uc002lom.1_Missense_Mutation_p.G56E	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	56					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)												0.13289	45.905434	85.316339	40	261	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	326804	326804	16385	19	C	T	T	30	30	THEG	T	2	2
NFIC	4782	broad.mit.edu	36	19	3333024	3333024	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3333024G>A	uc002lxo.1	+	c.318G>A	c.(316-318)ATG>ATA	p.M106I	NFIC_uc002lxp.1_Missense_Mutation_p.M115I|NFIC_uc002lxq.1_Missense_Mutation_p.M67I	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	115	CTF/NF-I.				DNA replication|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)												0.166181	83.793677	120.041474	57	286	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	Missense_Mutation	SNP	3333024	3333024	10772	19	G	A	A	46	46	NFIC	A	2	2
FZR1	51343	broad.mit.edu	36	19	3477285	3477285	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3477285G>A	uc010dtk.1	+	c.288G>A	c.(286-288)AAG>AAA	p.K96K	FZR1_uc002lxt.1_Silent_p.K96K|FZR1_uc002lxu.1_Silent_p.K96K|FZR1_uc002lxv.1_Silent_p.K96K	NM_016263	NP_057347	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 2	96					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2														0.1875	17.043927	21.436557	9	39	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3477285	3477285	6389	19	G	A	A	33	33	FZR1	A	2	2
POP4	10775	broad.mit.edu	36	19	34793253	34793253	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:34793253G>A	uc002nsf.1	+	c.158G>A	c.(157-159)CGC>CAC	p.R53H	POP4_uc002nsg.1_Intron	NM_006627	NP_006618	O95707	RPP29_HUMAN	POP4 (processing of precursor , S. cerevisiae)	53					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)					Melanoma(89;1165 1449 14085 34436 43672)						OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.209302	17.554642	20.917	9	34	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		Missense_Mutation	SNP	34793253	34793253	12681	19	G	A	A	38	38	POP4	A	1	1
PLEKHF1	79156	broad.mit.edu	36	19	34856936	34856936	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:34856936C>T	uc002nsi.2	+	c.605C>T	c.(604-606)ACG>ATG	p.T202M	PLEKHF1_uc002nsh.2_Missense_Mutation_p.T117M|PLEKHF1_uc010edc.1_Missense_Mutation_p.T117M	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	117	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	zinc ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)													0.413043	49.721614	50.023493	19	27	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		Missense_Mutation	SNP	34856936	34856936	12492	19	C	T	T	19	19	PLEKHF1	T	1	1
C19orf12	83636	broad.mit.edu	36	19	34885707	34885707	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:34885707G>A	uc002nsj.1	-	c.211C>T	c.(211-213)CTG>TTG	p.L71L	C19orf12_uc002nsk.1_Silent_p.L60L|C19orf12_uc002nsl.1_3'UTR|C19orf12_uc002nsm.2_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 1	60	Helical; (Potential).					integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)													0.409524	215.257896	216.76948	86	124	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		Silent	SNP	34885707	34885707	1971	19	G	A	A	34	34	C19orf12	A	2	2
C19orf2	8725	broad.mit.edu	36	19	35191995	35191995	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:35191995C>T	uc002nsr.1	+	c.930C>T	c.(928-930)GAC>GAT	p.D310D	C19orf2_uc002nsq.2_Silent_p.D292D|C19orf2_uc002nss.1_Silent_p.D270D|C19orf2_uc002nst.1_Silent_p.D234D	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	310	Poly-Asp.				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)				Melanoma(75;661 1306 1472 28422 37948)								0.186275	33.161623	42.57543	19	83	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	35191995	35191995	1973	19	C	T	T	19	19	C19orf2	T	1	1
GIPC3	126326	broad.mit.edu	36	19	3537836	3537836	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3537836A>G	uc002lyc.1	+	c.436A>G	c.(436-438)AAC>GAC	p.N146D		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	146	PDZ.									breast(1)	1												OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.619048	164.215442	165.260069	52	32	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3537836	3537836	6662	19	A	G	G	5	5	GIPC3	G	4	4
GIPC3	126326	broad.mit.edu	36	19	3540487	3540487	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3540487G>A	uc002lyc.1	+	c.639G>A	c.(637-639)GCG>GCA	p.A213A	GIPC3_uc002lyd.2_5'Flank	NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	213										breast(1)	1														0.398907	198.337621	199.972385	73	110	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3540487	3540487	6662	19	G	A	A	37	37	GIPC3	A	1	1
TBXA2R	6915	broad.mit.edu	36	19	3551558	3551558	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3551558G>A	uc002lyf.1	-	c.75C>T	c.(73-75)ATC>ATT	p.I25I	TBXA2R_uc002lye.1_Silent_p.I25I|TBXA2R_uc002lyg.1_Silent_p.I25I	NM_201636	NP_963998	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform 1	25	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)			Ridogrel(DB01207)									0.121622	9.138582	19.507133	9	65	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3551558	3551558	16189	19	G	A	A	37	37	TBXA2R	A	1	1
ZNF536	9745	broad.mit.edu	36	19	35626737	35626737	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:35626737G>A	uc002nsu.1	+	c.428G>A	c.(427-429)AGC>AAC	p.S143N	ZNF536_uc010edd.1_Missense_Mutation_p.S143N	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	143	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.368932	103.431186	104.982546	38	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35626737	35626737	18568	19	G	A	A	34	34	ZNF536	A	2	2
PIP5K1C	23396	broad.mit.edu	36	19	3594247	3594247	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3594247C>T	uc002lyj.1	-	c.1643G>A	c.(1642-1644)CGG>CAG	p.R548Q		NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	548					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding				0		Hepatocellular(1079;0.137)				Esophageal Squamous(135;99 1744 12852 27186 39851)				246				0.220779	81.267675	92.32023	34	120	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	Missense_Mutation	SNP	3594247	3594247	12365	19	C	T	T	23	23	PIP5K1C	T	1	1
TSHZ3	57616	broad.mit.edu	36	19	36460559	36460559	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:36460559G>A	uc002nsy.2	-	c.1980C>T	c.(1978-1980)AGC>AGT	p.S660S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	660					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.409836	66.177102	66.605783	25	36	GG		KEEP	---	---	---	---	capture			Silent	SNP	36460559	36460559	17176	19	G	A	A	38	38	TSHZ3	A	1	1
TJP3	27134	broad.mit.edu	36	19	3681658	3681658	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3681658G>T	uc002lym.1	+	c.624G>T	c.(622-624)CAG>CAT	p.Q208H	TJP3_uc002lyk.1_Missense_Mutation_p.Q189H|TJP3_uc002lyl.1_Missense_Mutation_p.Q198H|TJP3_uc002lyn.1_Missense_Mutation_p.Q189H	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	189						tight junction	protein binding			ovary(1)|central_nervous_system(1)	2														0.140541	23.317577	46.465492	26	159	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3681658	3681658	16460	19	G	T	T	33	33	TJP3	T	3	3
TJP3	27134	broad.mit.edu	36	19	3682961	3682961	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3682961C>A	uc002lym.1	+	c.699C>A	c.(697-699)ATC>ATA	p.I233I	TJP3_uc002lyk.1_Silent_p.I214I|TJP3_uc002lyl.1_Silent_p.I223I|TJP3_uc002lyn.1_Silent_p.I214I	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	214	PDZ 2.					tight junction	protein binding			ovary(1)|central_nervous_system(1)	2														0.210145	55.990515	66.728615	29	109	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3682961	3682961	16460	19	C	A	A	32	32	TJP3	A	3	3
TJP3	27134	broad.mit.edu	36	19	3684891	3684891	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3684891C>T	uc002lym.1	+	c.915C>T	c.(913-915)AGC>AGT	p.S305S	TJP3_uc002lyk.1_Silent_p.S286S|TJP3_uc002lyl.1_Silent_p.S295S|TJP3_uc002lyn.1_Silent_p.S286S	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	286						tight junction	protein binding			ovary(1)|central_nervous_system(1)	2														0.566929	194.856833	195.34769	72	55	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3684891	3684891	16460	19	C	T	T	27	27	TJP3	T	1	1
TJP3	27134	broad.mit.edu	36	19	3695028	3695028	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3695028C>T	uc002lym.1	+	c.2034C>T	c.(2032-2034)ATC>ATT	p.I678I	TJP3_uc002lyk.1_Silent_p.I645I|TJP3_uc002lyl.1_Silent_p.I654I|TJP3_uc002lyn.1_Silent_p.I645I	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	659	Guanylate kinase-like.					tight junction	protein binding			ovary(1)|central_nervous_system(1)	2														0.303191	140.504241	147.004075	57	131	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3695028	3695028	16460	19	C	T	T	31	31	TJP3	T	1	1
MRPL54	116541	broad.mit.edu	36	19	3716268	3716268	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3716268G>A	uc002lyq.2	+	c.223G>A	c.(223-225)GTC>ATC	p.V75I		NM_172251	NP_758455	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	75						mitochondrion|ribosome					0		Hepatocellular(1079;0.137)												0.307692	108.441191	113.159011	44	99	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3716268	3716268	10211	19	G	A	A	40	40	MRPL54	A	1	1
MATK	4145	broad.mit.edu	36	19	3729193	3729193	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3729193G>A	uc002lyv.1	-	c.1515C>T	c.(1513-1515)AGC>AGT	p.S505S	MATK_uc002lyt.1_Silent_p.S504S|MATK_uc002lyu.1_Silent_p.S463S|MATK_uc010dtq.1_Silent_p.S503S	NM_002378	NP_647611	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	504				ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703).	cell proliferation|mesoderm development|positive regulation of cell proliferation|protein phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			ovary(1)|lung(1)|large_intestine(1)	3		Hepatocellular(1079;0.137)								245				0.48	34.897345	34.906102	12	13	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3729193	3729193	9716	19	G	A	A	42	42	MATK	A	2	2
MATK	4145	broad.mit.edu	36	19	3735338	3735338	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3735338C>T	uc002lyv.1	-	c.247G>A	c.(247-249)GAG>AAG	p.E83K	MATK_uc002lyt.1_Missense_Mutation_p.E82K|MATK_uc002lyu.1_Missense_Mutation_p.E41K|MATK_uc010dtq.1_Missense_Mutation_p.E82K	NM_002378	NP_647611	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	82	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation|protein phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			ovary(1)|lung(1)|large_intestine(1)	3		Hepatocellular(1079;0.137)								245				0.340909	38.610721	39.595334	15	29	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3735338	3735338	9716	19	C	T	T	31	31	MATK	T	1	1
ZNF507	22847	broad.mit.edu	36	19	37536003	37536003	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37536003C>A	uc002ntd.1	+	c.427C>A	c.(427-429)CAT>AAT	p.H143N	ZNF507_uc002ntc.1_Missense_Mutation_p.H143N|ZNF507_uc002nte.1_Missense_Mutation_p.H143N	NM_014910	NP_055725	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	143	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	4	Esophageal squamous(110;0.162)													0.195312	48.292225	59.381164	25	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37536003	37536003	18547	19	C	A	A	29	29	ZNF507	A	3	3
ZNF507	22847	broad.mit.edu	36	19	37536126	37536126	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37536126A>G	uc002ntd.1	+	c.550A>G	c.(550-552)ATC>GTC	p.I184V	ZNF507_uc002ntc.1_Missense_Mutation_p.I184V|ZNF507_uc002nte.1_Missense_Mutation_p.I184V	NM_014910	NP_055725	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	184	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	4	Esophageal squamous(110;0.162)													0.242647	91.129999	99.326385	33	103	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37536126	37536126	18547	19	A	G	G	16	16	ZNF507	G	4	4
ZNF507	22847	broad.mit.edu	36	19	37536705	37536705	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37536705C>A	uc002ntd.1	+	c.1129C>A	c.(1129-1131)CTG>ATG	p.L377M	ZNF507_uc002ntc.1_Missense_Mutation_p.L377M|ZNF507_uc002nte.1_Missense_Mutation_p.L377M	NM_014910	NP_055725	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	4	Esophageal squamous(110;0.162)													0.196581	43.451593	53.495679	23	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37536705	37536705	18547	19	C	A	A	24	24	ZNF507	A	3	3
ZNF507	22847	broad.mit.edu	36	19	37543337	37543337	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37543337G>A	uc002ntd.1	+	c.2333G>A	c.(2332-2334)CGA>CAA	p.R778Q	ZNF507_uc002nte.1_Missense_Mutation_p.R778Q	NM_014910	NP_055725	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	778	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	4	Esophageal squamous(110;0.162)													0.176	39.87364	52.246239	22	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37543337	37543337	18547	19	G	A	A	37	37	ZNF507	A	1	1
ANKRD27	84079	broad.mit.edu	36	19	37782782	37782782	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37782782A>G	uc002ntn.1	-	c.2782T>C	c.(2782-2784)TAT>CAT	p.Y928H		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	928					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(110;0.137)													0.470588	190.502624	190.591152	56	63	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37782782	37782782	660	19	A	G	G	14	14	ANKRD27	G	4	4
ANKRD27	84079	broad.mit.edu	36	19	37811493	37811493	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37811493C>T	uc002ntn.1	-	c.1312G>A	c.(1312-1314)GAT>AAT	p.D438N		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	438					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(110;0.137)													0.1625	62.565647	88.571406	39	201	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37811493	37811493	660	19	C	T	T	31	31	ANKRD27	T	1	1
ANKRD27	84079	broad.mit.edu	36	19	37827144	37827144	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37827144C>T	uc002ntn.1	-	c.452G>A	c.(451-453)CGA>CAA	p.R151Q	ANKRD27_uc002nto.1_Missense_Mutation_p.R151Q	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	151					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(110;0.137)													0.448889	855.940177	857.473816	303	372	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37827144	37827144	660	19	C	T	T	31	31	ANKRD27	T	1	1
SLC7A9	11136	broad.mit.edu	36	19	38045322	38045322	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38045322C>T	uc002ntv.2	-	c.489G>A	c.(487-489)TCG>TCA	p.S163S	SLC7A9_uc002ntt.2_Intron|SLC7A9_uc002ntu.2_Silent_p.S163S|SLC7A9_uc002ntw.2_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	163	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding				0	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GBM(181;1335 2108 9644 44178 46689)								0.464516	204.982657	205.15239	72	83	CC		KEEP	---	---	---	---	capture			Silent	SNP	38045322	38045322	15202	19	C	T	T	31	31	SLC7A9	T	1	1
CCDC123	84902	broad.mit.edu	36	19	38142680	38142680	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38142680C>T	uc002nty.1	-	c.271G>A	c.(271-273)GAG>AAG	p.E91K	CCDC123_uc002ntx.1_5'UTR|CCDC123_uc010edg.1_Non-coding_Transcript|CCDC123_uc002ntz.1_Missense_Mutation_p.E91K|CCDC123_uc002nua.2_Missense_Mutation_p.E91K|CCDC123_uc002nub.1_5'UTR	NM_032816	NP_116205	Q96ST8	CC123_HUMAN	coiled-coil domain containing 123	91						mitochondrion				ovary(3)|pancreas(1)	4	Esophageal squamous(110;0.137)													0.195122	31.652179	38.761134	16	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38142680	38142680	2879	19	C	T	T	31	31	CCDC123	T	1	1
CCDC123	84902	broad.mit.edu	36	19	38149205	38149205	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38149205A>G	uc002nty.1	-	c.47T>C	c.(46-48)ATC>ACC	p.I16T	CCDC123_uc010edg.1_Non-coding_Transcript|CCDC123_uc002ntz.1_Missense_Mutation_p.I16T|CCDC123_uc002nua.2_Missense_Mutation_p.I16T|CCDC123_uc002nub.1_5'UTR	NM_032816	NP_116205	Q96ST8	CC123_HUMAN	coiled-coil domain containing 123	16						mitochondrion				ovary(3)|pancreas(1)	4	Esophageal squamous(110;0.137)													0.256098	58.744822	63.162482	21	61	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38149205	38149205	2879	19	A	G	G	12	12	CCDC123	G	4	4
RHPN2	85415	broad.mit.edu	36	19	38204347	38204347	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38204347C>T	uc002nuf.1	-	c.360G>A	c.(358-360)ACG>ACA	p.T120T	RHPN2_uc002nue.1_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	120	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)								(SNU398-Tumor)	600				0.197279	58.38754	70.938892	29	118	CC		KEEP	---	---	---	---	capture			Silent	SNP	38204347	38204347	13826	19	C	T	T	31	31	RHPN2	T	1	1
GPATCH1	55094	broad.mit.edu	36	19	38296544	38296544	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38296544C>T	uc002nug.1	+	c.1924C>T	c.(1924-1926)CGT>TGT	p.R642C	GPATCH1_uc002nuh.1_Missense_Mutation_p.R19C	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	642					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	nucleic acid binding				0	Esophageal squamous(110;0.137)					Pancreas(67;88 1713 4567 18227)								0.15493	31.458316	47.6201	22	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38296544	38296544	6864	19	C	T	T	27	27	GPATCH1	T	1	1
GPATCH1	55094	broad.mit.edu	36	19	38301832	38301832	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38301832C>T	uc002nug.1	+	c.2490C>T	c.(2488-2490)TTC>TTT	p.F830F	GPATCH1_uc002nuh.1_Silent_p.F207F	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	830					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	nucleic acid binding				0	Esophageal squamous(110;0.137)					Pancreas(67;88 1713 4567 18227)						OREG0025409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.126437	12.089195	23.918762	11	76	CC		KEEP	---	---	---	---	capture			Silent	SNP	38301832	38301832	6864	19	C	T	T	31	31	GPATCH1	T	1	1
WDR88	126248	broad.mit.edu	36	19	38331628	38331628	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38331628G>T	uc002nui.1	+	c.651G>T	c.(649-651)GAG>GAT	p.E217D		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	217	WD 3.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)													0.477833	258.032836	258.121031	97	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38331628	38331628	17909	19	G	T	T	33	33	WDR88	T	3	3
WDR88	126248	broad.mit.edu	36	19	38334052	38334052	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38334052A>G	uc002nui.1	+	c.805A>G	c.(805-807)ACT>GCT	p.T269A		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	269										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)													0.38	58.317683	58.9475	19	31	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38334052	38334052	17909	19	A	G	G	6	6	WDR88	G	4	4
LRP3	4037	broad.mit.edu	36	19	38388432	38388432	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38388432G>A	uc010edh.1	+	c.916G>A	c.(916-918)GAC>AAC	p.D306N	LRP3_uc002nuk.2_Missense_Mutation_p.D180N	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	306	Extracellular (Potential).|CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)													0.12963	7.991007	15.200198	7	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38388432	38388432	9331	19	G	A	A	37	37	LRP3	A	1	1
SLC7A10	56301	broad.mit.edu	36	19	38395160	38395160	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38395160G>T	uc002num.1	-	c.666C>A	c.(664-666)GCC>GCA	p.A222A	SLC7A10_uc010edi.1_Silent_p.A93A|SLC7A10_uc002nul.1_5'Flank	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	solute carrier family 7, member 10	222					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(110;0.137)													0.231884	33.485232	38.015673	16	53	GG		KEEP	---	---	---	---	capture			Silent	SNP	38395160	38395160	15190	19	G	T	T	35	35	SLC7A10	T	3	3
ATCAY	85300	broad.mit.edu	36	19	3856480	3856480	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3856480C>T	uc002lyy.2	+	c.185C>T	c.(184-186)ACG>ATG	p.T62M		NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN	caytaxin	62					transport		protein binding			breast(1)	1		Hepatocellular(1079;0.137)												0.505882	117.312054	117.314465	43	42	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	Missense_Mutation	SNP	3856480	3856480	1096	19	C	T	T	19	19	ATCAY	T	1	1
ATCAY	85300	broad.mit.edu	36	19	3858775	3858775	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3858775C>T	uc002lyy.2	+	c.402C>T	c.(400-402)AGC>AGT	p.S134S	ATCAY_uc010dts.1_5'Flank	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN	caytaxin	134					transport		protein binding			breast(1)	1		Hepatocellular(1079;0.137)												0.474576	150.484104	150.550489	56	62	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	Silent	SNP	3858775	3858775	1096	19	C	T	T	27	27	ATCAY	T	1	1
PEPD	5184	broad.mit.edu	36	19	38676060	38676060	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38676060C>T	uc002nur.2	-	c.417G>A	c.(415-417)CAG>CAA	p.Q139Q		NM_000285	NP_000276	P12955	PEPD_HUMAN	peptidase D	139					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(1)	1	Esophageal squamous(110;0.137)													0.373134	69.445925	70.397235	25	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	38676060	38676060	12149	19	C	T	T	32	32	PEPD	T	2	2
ITGB1BP3	27231	broad.mit.edu	36	19	3889726	3889726	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3889726C>T	uc002lyz.2	+	c.292C>T	c.(292-294)CTC>TTC	p.L98F		NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	integrin beta 1 binding protein 3	98					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity				0		Hepatocellular(1079;0.137)												0.183432	66.517264	82.418521	31	138	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3889726	3889726	8197	19	C	T	T	24	24	ITGB1BP3	T	2	2
DAPK3	1613	broad.mit.edu	36	19	3910260	3910260	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3910260C>T	uc002lzc.1	-	c.1204G>A	c.(1204-1206)GCG>ACG	p.A402T	DAPK3_uc002lzb.1_Missense_Mutation_p.A139T|DAPK3_uc002lzd.1_Missense_Mutation_p.A402T	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	402	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade|protein phosphorylation	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)								392				0.484848	41.294944	41.301547	16	17	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3910260	3910260	4404	19	C	T	T	27	27	DAPK3	T	1	1
EEF2	1938	broad.mit.edu	36	19	3928992	3928992	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3928992C>T	uc002lze.1	-	c.1892G>A	c.(1891-1893)CGG>CAG	p.R631Q		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	631						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)				Colon(165;1804 1908 4071 6587 18799)								0.215054	42.953595	49.922157	20	73	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3928992	3928992	5116	19	C	T	T	23	23	EEF2	T	1	1
EEF2	1938	broad.mit.edu	36	19	3935284	3935284	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3935284G>T	uc002lze.1	-	c.68C>A	c.(67-69)TCT>TAT	p.S23Y	SNORD37_uc002lzf.1_5'Flank	NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	23						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)				Colon(165;1804 1908 4071 6587 18799)								0.185996	145.259375	187.549123	85	372	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3935284	3935284	5116	19	G	T	T	33	33	EEF2	T	3	3
KIAA0355	9710	broad.mit.edu	36	19	39524567	39524567	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:39524567G>T	uc002nvd.2	+	c.1888G>T	c.(1888-1890)GAT>TAT	p.D630Y		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	630										ovary(1)	1	Esophageal squamous(110;0.162)													0.22963	62.643204	71.703405	31	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39524567	39524567	8477	19	G	T	T	33	33	KIAA0355	T	3	3
GPI	2821	broad.mit.edu	36	19	39560286	39560286	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:39560286G>T	uc002nvf.1	+	c.441G>T	c.(439-441)AAG>AAT	p.K147N	GPI_uc002nvg.1_Missense_Mutation_p.K147N|GPI_uc010edl.1_Missense_Mutation_p.K147N	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	147					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)													0.1875	51.841614	66.491464	30	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39560286	39560286	6885	19	G	T	T	33	33	GPI	T	3	3
GPI	2821	broad.mit.edu	36	19	39564260	39564260	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:39564260G>A	uc002nvf.1	+	c.800G>A	c.(799-801)TGG>TAG	p.W267*	GPI_uc002nvg.1_Nonsense_Mutation_p.W267*|GPI_uc010edl.1_Nonsense_Mutation_p.W267*	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	267					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)													0.433628	295.00169	295.871574	98	128	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	39564260	39564260	6885	19	G	A	A	47	47	GPI	A	5	2
GPI	2821	broad.mit.edu	36	19	39582019	39582019	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:39582019G>A	uc002nvf.1	+	c.1337G>A	c.(1336-1338)CGA>CAA	p.R446Q	GPI_uc002nvg.1_Missense_Mutation_p.R446Q|GPI_uc010edl.1_Missense_Mutation_p.R446Q|GPI_uc002nvi.1_Missense_Mutation_p.R109Q	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	446					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)													0.512195	120.434024	120.444273	42	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39582019	39582019	6885	19	G	A	A	37	37	GPI	A	1	1
PDCD2L	84306	broad.mit.edu	36	19	39608818	39608818	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:39608818G>T	uc002nvj.1	+	c.1030G>T	c.(1030-1032)GAA>TAA	p.E344*	UBA2_uc002nvk.1_5'Flank|UBA2_uc002nvl.1_5'Flank	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	344						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)													0.207547	84.263977	101.082785	44	168	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.211)		Nonsense_Mutation	SNP	39608818	39608818	12041	19	G	T	T	33	33	PDCD2L	T	5	3
WTIP	126374	broad.mit.edu	36	19	39673188	39673188	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:39673188T>G	uc002nvm.1	+	c.735T>G	c.(733-735)CTT>CTG	p.L245L		NM_001080436	NP_001073905			Wilms tumor 1 interacting protein												0	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)													0.155689	49.642946	68.550948	26	141	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.211)		Silent	SNP	39673188	39673188	17984	19	T	G	G	64	64	WTIP	G	4	4
ZNF302	55900	broad.mit.edu	36	19	39867759	39867759	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:39867759C>T	uc002nvr.1	+	c.1109C>T	c.(1108-1110)TCG>TTG	p.S370L	ZNF302_uc002nvp.1_Missense_Mutation_p.S326L|ZNF302_uc002nvq.1_Missense_Mutation_p.S326L|ZNF302_uc002nvs.1_Missense_Mutation_p.S326L	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	405	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)													0.728682	286.990341	293.075043	94	35	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Missense_Mutation	SNP	39867759	39867759	18424	19	C	T	T	31	31	ZNF302	T	1	1
ZNF181	339318	broad.mit.edu	36	19	39923747	39923747	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:39923747G>T	uc002nvu.2	+	c.621G>T	c.(619-621)AAG>AAT	p.K207N	ZNF181_uc002nvt.2_Missense_Mutation_p.K143N	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	zinc finger protein 181	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)													0.239583	145.610797	163.460635	69	219	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.138)		Missense_Mutation	SNP	39923747	39923747	18340	19	G	T	T	33	33	ZNF181	T	3	3
ZNF599	148103	broad.mit.edu	36	19	39943241	39943241	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:39943241G>A	uc010edn.1	-	c.305C>T	c.(304-306)TCC>TTC	p.S102F	ZNF599_uc010edm.1_Missense_Mutation_p.S65F	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)													0.44335	256.512219	257.081139	90	113	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.138)		Missense_Mutation	SNP	39943241	39943241	18624	19	G	A	A	41	41	ZNF599	A	2	2
ZBTB7A	51341	broad.mit.edu	36	19	3998854	3998854	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3998854C>T	uc002lzh.1	-	c.1651G>A	c.(1651-1653)GAC>AAC	p.D551N	ZBTB7A_uc002lzi.1_Missense_Mutation_p.D551N	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	551					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|transcription repressor activity|zinc ion binding			pancreas(1)	1		Hepatocellular(1079;0.137)												0.602941	114.643893	115.269037	41	27	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3998854	3998854	18140	19	C	T	T	31	31	ZBTB7A	T	1	1
ZBTB7A	51341	broad.mit.edu	36	19	3999227	3999227	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3999227C>A	uc002lzh.1	-	c.1278G>T	c.(1276-1278)AAG>AAT	p.K426N	ZBTB7A_uc002lzi.1_Missense_Mutation_p.K426N	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	426	C2H2-type 2.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|transcription repressor activity|zinc ion binding			pancreas(1)	1		Hepatocellular(1079;0.137)												0.166667	17.477937	25.049234	12	60	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3999227	3999227	18140	19	C	A	A	24	24	ZBTB7A	A	3	3
ZNF30	90075	broad.mit.edu	36	19	40126627	40126627	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40126627A>G	uc010edq.1	+	c.920A>G	c.(919-921)CAT>CGT	p.H307R	ZNF30_uc010edp.1_Missense_Mutation_p.H306R|ZNF30_uc010edr.1_Missense_Mutation_p.H307R|ZNF30_uc002nxf.2_Missense_Mutation_p.H225R	NM_001099437	NP_001092907	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform a	306	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)													0.413043	223.365575	224.580147	76	108	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	Missense_Mutation	SNP	40126627	40126627	18422	19	A	G	G	8	8	ZNF30	G	4	4
ZNF792	126375	broad.mit.edu	36	19	40140903	40140903	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40140903C>T	uc002nxh.1	-	c.1696G>A	c.(1696-1698)GAA>AAA	p.E566K		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	566	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)					GBM(1;7 183 21053 22581 22847)								0.457143	91.189483	91.301714	32	38	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Missense_Mutation	SNP	40140903	40140903	18762	19	C	T	T	31	31	ZNF792	T	1	1
ZNF792	126375	broad.mit.edu	36	19	40141433	40141433	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40141433G>A	uc002nxh.1	-	c.1166C>T	c.(1165-1167)ACG>ATG	p.T389M		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)					GBM(1;7 183 21053 22581 22847)								0.421053	105.272494	105.791249	40	55	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Missense_Mutation	SNP	40141433	40141433	18762	19	G	A	A	40	40	ZNF792	A	1	1
ZNF792	126375	broad.mit.edu	36	19	40143733	40143733	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40143733G>A	uc002nxh.1	-	c.39C>T	c.(37-39)TGC>TGT	p.C13C		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)					GBM(1;7 183 21053 22581 22847)								0.293103	116.55079	123.225261	51	123	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Silent	SNP	40143733	40143733	18762	19	G	A	A	38	38	ZNF792	A	1	1
GRAMD1A	57655	broad.mit.edu	36	19	40192878	40192878	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40192878G>A	uc002nxj.1	+	c.368G>A	c.(367-369)CGC>CAC	p.R123H	GRAMD1A_uc002nxi.1_Missense_Mutation_p.R210H|GRAMD1A_uc002nxk.1_Missense_Mutation_p.R116H|GRAMD1A_uc002nxl.1_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	123	GRAM.					integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)													0.229412	151.851649	174.714139	78	262	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Missense_Mutation	SNP	40192878	40192878	7023	19	G	A	A	38	38	GRAMD1A	A	1	1
GRAMD1A	57655	broad.mit.edu	36	19	40196420	40196420	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40196420C>T	uc002nxj.1	+	c.855C>T	c.(853-855)AGC>AGT	p.S285S	GRAMD1A_uc002nxi.1_Silent_p.S372S|GRAMD1A_uc002nxk.1_Silent_p.S278S|GRAMD1A_uc002nxl.1_Silent_p.S51S|GRAMD1A_uc002nxm.1_Non-coding_Transcript|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	285						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)													0.169643	31.656506	43.226781	19	93	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Silent	SNP	40196420	40196420	7023	19	C	T	T	27	27	GRAMD1A	T	1	1
GRAMD1A	57655	broad.mit.edu	36	19	40198678	40198678	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40198678C>A	uc002nxj.1	+	c.1180C>A	c.(1180-1182)CTC>ATC	p.L394I	GRAMD1A_uc002nxk.1_Missense_Mutation_p.L387I|GRAMD1A_uc002nxl.1_Missense_Mutation_p.L160I|GRAMD1A_uc002nxm.1_Non-coding_Transcript|GRAMD1A_uc002nxn.1_Missense_Mutation_p.L9I	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	394						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)													0.222892	76.279626	88.011446	37	129	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Missense_Mutation	SNP	40198678	40198678	7023	19	C	A	A	24	24	GRAMD1A	A	3	3
HPN	3249	broad.mit.edu	36	19	40243489	40243489	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40243489C>T	uc002nxq.1	+	c.739C>T	c.(739-741)CGG>TGG	p.R247W	HPN_uc002nxr.1_Missense_Mutation_p.R247W|HPN_uc002nxs.1_Missense_Mutation_p.R89W|HPN_uc002nxt.1_Missense_Mutation_p.R131W	NM_002151	NP_892028	P05981	HEPS_HUMAN	hepsin	247	Extracellular (Potential).|Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)				Coagulation factor VIIa(DB00036)									0.406393	240.722142	242.401246	89	130	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Missense_Mutation	SNP	40243489	40243489	7628	19	C	T	T	31	31	HPN	T	1	1
HPN	3249	broad.mit.edu	36	19	40248072	40248072	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40248072G>A	uc002nxq.1	+	c.890G>A	c.(889-891)GGC>GAC	p.G297D	HPN_uc002nxr.1_Missense_Mutation_p.G297D|HPN_uc002nxs.1_Missense_Mutation_p.G139D|HPN_uc002nxt.1_Missense_Mutation_p.G181D	NM_002151	NP_892028	P05981	HEPS_HUMAN	hepsin	297	Extracellular (Potential).|Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)				Coagulation factor VIIa(DB00036)									0.186047	41.752881	53.652335	24	105	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Missense_Mutation	SNP	40248072	40248072	7628	19	G	A	A	42	42	HPN	A	2	2
LGI4	163175	broad.mit.edu	36	19	40308168	40308168	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40308168G>A	uc002nxx.2	-	c.1383C>T	c.(1381-1383)ATC>ATT	p.I461I	LGI4_uc002nxy.1_Silent_p.I289I|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	461	EAR 4.					extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)													0.32	21.191029	21.910793	8	17	GG		KEEP	---	---	---	---	capture	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		Silent	SNP	40308168	40308168	9080	19	G	A	A	37	37	LGI4	A	1	1
FAM187B	148109	broad.mit.edu	36	19	40410740	40410740	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40410740T>G	uc002nyk.1	-	c.684A>C	c.(682-684)GAA>GAC	p.E228D		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	228	Extracellular (Potential).					integral to membrane				ovary(2)	2														0.17757	43.965011	54.436062	19	88	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40410740	40410740	5723	19	T	G	G	52	52	FAM187B	G	4	4
LSR	51599	broad.mit.edu	36	19	40449908	40449908	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40449908G>A	uc002nyl.1	+	c.1345G>A	c.(1345-1347)GGC>AGC	p.G449S	LSR_uc002nym.1_Missense_Mutation_p.G430S|LSR_uc002nyn.1_Missense_Mutation_p.G381S|LSR_uc002nyo.1_Missense_Mutation_p.G429S|LSR_uc002nyp.1_Missense_Mutation_p.G391S|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	LISCH protein isoform 2	449	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)													0.352273	84.64897	86.36356	31	57	GG		KEEP	---	---	---	---	capture	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Missense_Mutation	SNP	40449908	40449908	9440	19	G	A	A	43	43	LSR	A	2	2
MAG	4099	broad.mit.edu	36	19	40478466	40478466	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40478466G>A	uc002nyy.1	+	c.157G>A	c.(157-159)GCT>ACT	p.A53T	MAG_uc002nyz.1_Missense_Mutation_p.A53T|MAG_uc002nyx.1_Missense_Mutation_p.A53T|MAG_uc010eds.1_Missense_Mutation_p.A28T	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	53	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)												0.255144	136.666057	149.867265	62	181	GG		KEEP	---	---	---	---	capture	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Missense_Mutation	SNP	40478466	40478466	9539	19	G	A	A	38	38	MAG	A	1	1
MAG	4099	broad.mit.edu	36	19	40482443	40482443	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40482443C>T	uc002nyy.1	+	c.562C>T	c.(562-564)CGG>TGG	p.R188W	MAG_uc002nyz.1_Missense_Mutation_p.R188W|MAG_uc002nyx.1_Missense_Mutation_p.R188W|MAG_uc010eds.1_Missense_Mutation_p.R163W	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	188	Ig-like C2-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)												0.642857	27.279122	27.53197	9	5	CC		KEEP	---	---	---	---	capture	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Missense_Mutation	SNP	40482443	40482443	9539	19	C	T	T	23	23	MAG	T	1	1
MAG	4099	broad.mit.edu	36	19	40492778	40492778	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40492778C>T	uc002nyy.1	+	c.1393C>T	c.(1393-1395)CGC>TGC	p.R465C	MAG_uc002nyz.1_Missense_Mutation_p.R465C|MAG_uc002nyx.1_Missense_Mutation_p.R465C|MAG_uc010eds.1_Missense_Mutation_p.R440C	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	465	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)												0.455782	177.077402	177.315447	67	80	CC		KEEP	---	---	---	---	capture	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Missense_Mutation	SNP	40492778	40492778	9539	19	C	T	T	27	27	MAG	T	1	1
FFAR1	2864	broad.mit.edu	36	19	40534677	40534677	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40534677C>T	uc002nzc.1	+	c.383C>T	c.(382-384)GCG>GTG	p.A128V		NM_005303	NP_005294	O14842	FFAR1_HUMAN	free fatty acid receptor 1	128	Helical; Name=4; (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)				Icosapent(DB00159)									0.437186	239.187438	239.872523	87	112	CC		KEEP	---	---	---	---	capture	Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Missense_Mutation	SNP	40534677	40534677	6064	19	C	T	T	27	27	FFAR1	T	1	1
FFAR2	2867	broad.mit.edu	36	19	40632952	40632952	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40632952G>A	uc002nzg.2	+	c.496G>A	c.(496-498)GAG>AAG	p.E166K	FFAR2_uc010eea.1_Missense_Mutation_p.E166K	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	166	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)					GBM(40;139 809 9833 23358 48736)				34				0.20362	90.08691	108.086181	45	176	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Missense_Mutation	SNP	40632952	40632952	6065	19	G	A	A	37	37	FFAR2	A	1	1
DMKN	93099	broad.mit.edu	36	19	40683318	40683318	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40683318G>A	uc002nzm.2	-	c.1244C>T	c.(1243-1245)GCG>GTG	p.A415V	DMKN_uc002nzi.2_Missense_Mutation_p.A29V|DMKN_uc002nzj.1_Missense_Mutation_p.A89V|DMKN_uc002nzk.2_Missense_Mutation_p.A62V|DMKN_uc002nzl.2_Missense_Mutation_p.A128V|DMKN_uc002nzo.2_Missense_Mutation_p.A404V|DMKN_uc002nzn.2_Missense_Mutation_p.A374V|DMKN_uc002nzw.2_Missense_Mutation_p.A71V|DMKN_uc002nzr.2_Missense_Mutation_p.A71V|DMKN_uc002nzp.2_Missense_Mutation_p.A109V|DMKN_uc002nzq.2_Missense_Mutation_p.A91V|DMKN_uc002nzt.2_Missense_Mutation_p.A62V|DMKN_uc002nzs.2_Missense_Mutation_p.A62V|DMKN_uc002nzu.2_Missense_Mutation_p.A62V|DMKN_uc002nzv.2_Missense_Mutation_p.A62V	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	415						extracellular region				large_intestine(1)|ovary(1)	2	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)													0.509091	78.397276	78.401223	28	27	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Missense_Mutation	SNP	40683318	40683318	4762	19	G	A	A	38	38	DMKN	A	1	1
MAP2K2	5605	broad.mit.edu	36	19	4068524	4068524	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4068524C>T	uc002lzk.1	-	c.196G>A	c.(196-198)GAA>AAA	p.E66K		NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	66					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)								1015				0.158103	61.843718	90.044722	40	213	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	4068524	4068524	9620	19	C	T	T	31	31	MAP2K2	T	1	1
DMKN	93099	broad.mit.edu	36	19	40696181	40696181	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40696181C>T	uc002nzm.2	-	c.37G>A	c.(37-39)GCC>ACC	p.A13T	DMKN_uc002nzk.2_5'Flank|DMKN_uc002nzl.2_5'Flank|DMKN_uc002nzo.2_Missense_Mutation_p.A13T|DMKN_uc002nzn.2_Missense_Mutation_p.A13T|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_uc002nzx.2_5'Flank|DMKN_uc002nzy.2_5'Flank|DMKN_uc002nzz.1_5'Flank|DMKN_uc002oac.2_Missense_Mutation_p.A13T|DMKN_uc010eeb.1_Missense_Mutation_p.A13T|DMKN_uc002oaa.2_Missense_Mutation_p.A13T|DMKN_uc002oab.2_Missense_Mutation_p.A13T	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	13			A -> D (in a colorectal cancer sample; somatic mutation).			extracellular region				large_intestine(1)|ovary(1)	2	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)													0.215385	56.540595	66.256876	28	102	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Missense_Mutation	SNP	40696181	40696181	4762	19	C	T	T	26	26	DMKN	T	2	2
SBSN	374897	broad.mit.edu	36	19	40706269	40706269	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40706269C>T	uc002oad.1	-	c.1756G>A	c.(1756-1758)GCC>ACC	p.A586T	SBSN_uc002oae.1_Missense_Mutation_p.A243T	NM_198538		Q6UWP8	SBSN_HUMAN	suprabasin	243						extracellular region				ovary(1)	1	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)													0.145985	28.222101	44.723267	20	117	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Missense_Mutation	SNP	40706269	40706269	14345	19	C	T	T	27	27	SBSN	T	1	1
GAPDHS	26330	broad.mit.edu	36	19	40725297	40725297	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40725297C>T	uc002oaf.1	+	c.606C>T	c.(604-606)TTC>TTT	p.F202F		NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	202					gluconeogenesis|glycolysis|oxidation-reduction process|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)				NADH(DB00157)									0.276923	87.339201	93.165432	36	94	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Silent	SNP	40725297	40725297	6501	19	C	T	T	31	31	GAPDHS	T	1	1
ATP4A	495	broad.mit.edu	36	19	40733753	40733753	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40733753G>A	uc002oal.1	-	c.2986C>T	c.(2986-2988)CGG>TGG	p.R996W	ATP4A_uc010eee.1_Missense_Mutation_p.R154W	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	996	Lumenal (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)				Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)									0.301887	39.885547	41.739826	16	37	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Missense_Mutation	SNP	40733753	40733753	1164	19	G	A	A	37	37	ATP4A	A	1	1
ATP4A	495	broad.mit.edu	36	19	40734227	40734227	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40734227C>A	uc002oal.1	-	c.2847G>T	c.(2845-2847)AAG>AAT	p.K949N	ATP4A_uc010eee.1_Missense_Mutation_p.K107N	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	949	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)				Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)									0.168539	21.859055	31.136393	15	74	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Missense_Mutation	SNP	40734227	40734227	1164	19	C	A	A	32	32	ATP4A	A	3	3
ATP4A	495	broad.mit.edu	36	19	40742754	40742754	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40742754C>T	uc002oal.1	-	c.849G>A	c.(847-849)TCG>TCA	p.S283S	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	283	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)				Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)									0.206897	70.100764	83.961659	36	138	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Silent	SNP	40742754	40742754	1164	19	C	T	T	27	27	ATP4A	T	1	1
HAUS5	23354	broad.mit.edu	36	19	40801648	40801648	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40801648C>T	uc002oam.1	+	c.1036C>T	c.(1036-1038)CTT>TTT	p.L346F		NM_015302	NP_056117	O94927	HAUS5_HUMAN	hypothetical protein LOC23354	346					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle					0														0.237762	73.076089	82.067609	34	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40801648	40801648	7251	19	C	T	T	28	28	HAUS5	T	2	2
HAUS5	23354	broad.mit.edu	36	19	40801780	40801780	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40801780C>T	uc002oam.1	+	c.1168C>T	c.(1168-1170)CGC>TGC	p.R390C		NM_015302	NP_056117	O94927	HAUS5_HUMAN	hypothetical protein LOC23354	390	Potential.				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle					0														0.21519	34.733497	40.649069	17	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40801780	40801780	7251	19	C	T	T	27	27	HAUS5	T	1	1
HAUS5	23354	broad.mit.edu	36	19	40805416	40805416	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40805416G>A	uc002oam.1	+	c.1725G>A	c.(1723-1725)GAG>GAA	p.E575E		NM_015302	NP_056117	O94927	HAUS5_HUMAN	hypothetical protein LOC23354	575	Potential.				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle					0														0.468354	104.256656	104.326306	37	42	GG		KEEP	---	---	---	---	capture			Silent	SNP	40805416	40805416	7251	19	G	A	A	33	33	HAUS5	A	2	2
MLL4	9757	broad.mit.edu	36	19	40921284	40921284	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40921284C>T	uc010eei.1	+	c.8134C>T	c.(8134-8136)CGG>TGG	p.R2712W		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2712	Post-SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)													0.595745	81.306024	81.683379	28	19	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Missense_Mutation	SNP	40921284	40921284	10013	19	C	T	T	31	31	MLL4	T	1	1
ARHGAP33	115703	broad.mit.edu	36	19	40963524	40963524	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40963524C>T	uc002obs.1	+	c.795C>T	c.(793-795)ATC>ATT	p.I265I	ARHGAP33_uc002obr.1_Silent_p.I265I|ARHGAP33_uc002obt.1_Silent_p.I129I|ARHGAP33_uc010eel.1_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	265					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.429952	251.892475	252.765364	89	118	CC		KEEP	---	---	---	---	capture			Silent	SNP	40963524	40963524	894	19	C	T	T	30	30	ARHGAP33	T	2	2
ARHGAP33	115703	broad.mit.edu	36	19	40963729	40963729	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40963729G>T	uc002obs.1	+	c.897G>T	c.(895-897)CGG>CGT	p.R299R	ARHGAP33_uc002obr.1_Silent_p.R299R|ARHGAP33_uc002obt.1_Silent_p.R163R|ARHGAP33_uc010eel.1_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	299					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.470238	218.782266	218.91341	79	89	GG		KEEP	---	---	---	---	capture			Silent	SNP	40963729	40963729	894	19	G	T	T	42	42	ARHGAP33	T	3	3
ARHGAP33	115703	broad.mit.edu	36	19	40969762	40969762	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40969762C>T	uc002obs.1	+	c.2067C>T	c.(2065-2067)GAC>GAT	p.D689D	ARHGAP33_uc002obr.1_Silent_p.D850D|ARHGAP33_uc002obt.1_Silent_p.D714D|ARHGAP33_uc010eel.1_Silent_p.D438D|ARHGAP33_uc002obv.1_Silent_p.D438D	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	745					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.48	64.492184	64.509688	24	26	CC		KEEP	---	---	---	---	capture			Silent	SNP	40969762	40969762	894	19	C	T	T	19	19	ARHGAP33	T	1	1
ARHGAP33	115703	broad.mit.edu	36	19	40970604	40970604	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40970604C>T	uc002obs.1	+	c.2814C>T	c.(2812-2814)GGC>GGT	p.G938G	ARHGAP33_uc002obt.1_Silent_p.G935G|ARHGAP33_uc010eel.1_Intron|ARHGAP33_uc002obv.1_Silent_p.G687G	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1099					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.535714	164.772803	164.896741	60	52	CC		KEEP	---	---	---	---	capture			Silent	SNP	40970604	40970604	894	19	C	T	T	26	26	ARHGAP33	T	2	2
NPHS1	4868	broad.mit.edu	36	19	41032053	41032053	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41032053C>A	uc002oby.2	-	c.765G>T	c.(763-765)GTG>GTT	p.V255V		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	255	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)													0.138889	10.440554	19.49172	10	62	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Silent	SNP	41032053	41032053	10986	19	C	A	A	25	25	NPHS1	A	3	3
KIRREL2	84063	broad.mit.edu	36	19	41043731	41043731	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41043731G>A	uc002ocb.2	+	c.1009G>A	c.(1009-1011)GGG>AGG	p.G337R	KIRREL2_uc002obz.2_Missense_Mutation_p.G337R|KIRREL2_uc002oca.2_Missense_Mutation_p.G287R|KIRREL2_uc002occ.2_Missense_Mutation_p.G284R|KIRREL2_uc002ocd.2_Missense_Mutation_p.G334R	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	337	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)													0.212121	15.209282	17.735864	7	26	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Missense_Mutation	SNP	41043731	41043731	8637	19	G	A	A	39	39	KIRREL2	A	1	1
APLP1	333	broad.mit.edu	36	19	41054484	41054484	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41054484T>C	uc002ocf.1	+	c.668T>C	c.(667-669)GTT>GCT	p.V223A	APLP1_uc002oce.1_Missense_Mutation_p.V223A|APLP1_uc002ocg.1_Missense_Mutation_p.V126A	NM_001024807	NP_001019978	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 1	223	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)													0.438596	160.125492	160.500278	50	64	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Missense_Mutation	SNP	41054484	41054484	789	19	T	C	C	60	60	APLP1	C	4	4
HCST	10870	broad.mit.edu	36	19	41086630	41086630	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41086630C>T	uc002ocl.1	+	c.226C>T	c.(226-228)CGC>TGC	p.R76C	HCST_uc002ock.1_Missense_Mutation_p.R76C	NM_014266	NP_055081	Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer isoform 1	76	Cytoplasmic (Potential).				regulation of immune response	integral to membrane|plasma membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)													0.21875	28.336673	32.988083	14	50	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Missense_Mutation	SNP	41086630	41086630	7286	19	C	T	T	23	23	HCST	T	1	1
TYROBP	7305	broad.mit.edu	36	19	41087326	41087326	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41087326C>T	uc002ocm.1	-	c.327G>A	c.(325-327)AGG>AGA	p.R109R	TYROBP_uc002ocn.1_Silent_p.R108R	NM_003332	NP_003323	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	109	Cytoplasmic (Potential).				axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane	protein binding|receptor signaling protein activity				0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)													0.476923	89.417648	89.447899	31	34	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Silent	SNP	41087326	41087326	17372	19	C	T	T	26	26	TYROBP	T	2	2
CLIP3	25999	broad.mit.edu	36	19	41207173	41207173	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41207173G>A	uc010eeq.1	-	c.883C>T	c.(883-885)CGC>TGC	p.R295C	CLIP3_uc002ocz.1_Missense_Mutation_p.R295C	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	295					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)	3	Esophageal squamous(110;0.162)													0.257576	77.697809	84.724193	34	98	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.06)		Missense_Mutation	SNP	41207173	41207173	3672	19	G	A	A	38	38	CLIP3	A	1	1
CLIP3	25999	broad.mit.edu	36	19	41208958	41208958	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41208958G>A	uc010eeq.1	-	c.612C>T	c.(610-612)ATC>ATT	p.I204I	CLIP3_uc002ocz.1_Silent_p.I204I	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	204	ANK 3.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)	3	Esophageal squamous(110;0.162)													0.173469	27.854456	37.692961	17	81	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.06)		Silent	SNP	41208958	41208958	3672	19	G	A	A	37	37	CLIP3	A	1	1
CLIP3	25999	broad.mit.edu	36	19	41209983	41209983	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41209983G>A	uc010eeq.1	-	c.197C>T	c.(196-198)GCG>GTG	p.A66V	CLIP3_uc002ocz.1_Missense_Mutation_p.A66V	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	66					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)	3	Esophageal squamous(110;0.162)													0.201923	39.313307	47.904791	21	83	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.06)		Missense_Mutation	SNP	41209983	41209983	3672	19	G	A	A	38	38	CLIP3	A	1	1
WDR62	284403	broad.mit.edu	36	19	41267482	41267482	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41267482G>T	uc002odd.2	+	c.1638G>T	c.(1636-1638)GAG>GAT	p.E546D	WDR62_uc002odc.2_Missense_Mutation_p.E546D	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 1	546	WD 8.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)													0.125	11.593174	25.897864	13	91	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.06)		Missense_Mutation	SNP	41267482	41267482	17886	19	G	T	T	33	33	WDR62	T	3	3
ZNF146	7705	broad.mit.edu	36	19	41419541	41419541	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41419541G>T	uc002odq.2	+	c.359G>T	c.(358-360)AGA>ATA	p.R120I	ZNF146_uc010eet.1_Missense_Mutation_p.R120I|ZNF146_uc010eeu.1_Missense_Mutation_p.R120I|ZNF146_uc010eev.1_Missense_Mutation_p.R120I	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	120	C2H2-type 4.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)													0.221649	85.201382	99.053543	43	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41419541	41419541	18324	19	G	T	T	33	33	ZNF146	T	3	3
ZNF566	84924	broad.mit.edu	36	19	41632117	41632117	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41632117C>A	uc002oea.2	-	c.859G>T	c.(859-861)GAA>TAA	p.E287*	ZNF566_uc002oeb.2_Nonsense_Mutation_p.E287*|ZNF566_uc002oec.2_Nonsense_Mutation_p.E183*	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	287	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)													0.227941	127.585564	146.080201	62	210	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	41632117	41632117	18592	19	C	A	A	32	32	ZNF566	A	5	3
ZNF566	84924	broad.mit.edu	36	19	41632466	41632466	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41632466G>A	uc002oea.2	-	c.510C>T	c.(508-510)TTC>TTT	p.F170F	ZNF566_uc002oeb.2_Silent_p.F170F|ZNF566_uc002oec.2_Silent_p.F66F	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	170	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)													0.435424	354.80253	355.789162	118	153	GG		KEEP	---	---	---	---	capture			Silent	SNP	41632466	41632466	18592	19	G	A	A	33	33	ZNF566	A	2	2
ZNF260	339324	broad.mit.edu	36	19	41696949	41696949	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41696949G>A	uc002oee.1	-	c.1032C>T	c.(1030-1032)AGC>AGT	p.S344S	ZNF260_uc002oed.1_Silent_p.S341S|ZNF260_uc010eey.1_Silent_p.S341S|ZNF260_uc002oef.1_Silent_p.S341S|ZNF260_uc010eez.1_Silent_p.S344S	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	344	C2H2-type 11.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)													0.218868	130.214883	149.510004	58	207	GG		KEEP	---	---	---	---	capture			Silent	SNP	41696949	41696949	18394	19	G	A	A	34	34	ZNF260	A	2	2
ZNF461	92283	broad.mit.edu	36	19	41822445	41822445	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41822445A>C	uc002oem.1	-	c.642T>G	c.(640-642)CAT>CAG	p.H214Q	ZNF461_uc002oen.1_Missense_Mutation_p.H183Q	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	214	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)													0.496732	255.801536	255.802916	76	77	AA		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		Missense_Mutation	SNP	41822445	41822445	18518	19	A	C	C	4	4	ZNF461	C	4	4
ZNF461	92283	broad.mit.edu	36	19	41839209	41839209	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41839209C>A	uc002oem.1	-	c.213G>T	c.(211-213)GAG>GAT	p.E71D	ZNF461_uc002oen.1_Missense_Mutation_p.E40D	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)													0.40708	119.711972	120.568595	46	67	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		Missense_Mutation	SNP	41839209	41839209	18518	19	C	A	A	32	32	ZNF461	A	3	3
ZNF345	25850	broad.mit.edu	36	19	42060396	42060396	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42060396G>A	uc002oex.1	+	c.824G>A	c.(823-825)CGA>CAA	p.R275Q	ZNF345_uc002oez.2_Intron|ZNF345_uc002oey.2_Missense_Mutation_p.R275Q|ZNF345_uc010efd.1_Missense_Mutation_p.R275Q	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	275	C2H2-type 8.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|RNA polymerase III transcription factor activity|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)													0.233831	103.317873	116.357124	47	154	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42060396	42060396	18451	19	G	A	A	37	37	ZNF345	A	1	1
CCDC94	55702	broad.mit.edu	36	19	4213012	4213012	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4213012A>G	uc002lzv.2	+	c.609A>G	c.(607-609)AGA>AGG	p.R203R		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	203	Potential.										0														0.164794	99.357071	127.81211	44	223	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	Silent	SNP	4213012	4213012	2998	19	A	G	G	9	9	CCDC94	G	4	4
ZNF568	374900	broad.mit.edu	36	19	42132371	42132371	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42132371C>T	uc002ofc.1	+	c.476C>T	c.(475-477)GCG>GTG	p.A159V	ZNF568_uc002ofd.1_Missense_Mutation_p.A83V|ZNF568_uc010efe.1_Missense_Mutation_p.A83V|ZNF568_uc010eff.1_Intron|ZNF568_uc010efg.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)													0.38674	187.301226	189.337882	70	111	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42132371	42132371	18594	19	C	T	T	27	27	ZNF568	T	1	1
ZNF568	374900	broad.mit.edu	36	19	42133013	42133013	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42133013G>A	uc002ofc.1	+	c.1118G>A	c.(1117-1119)CGA>CAA	p.R373Q	ZNF568_uc002ofd.1_Missense_Mutation_p.R297Q|ZNF568_uc010efe.1_Missense_Mutation_p.R297Q|ZNF568_uc010eff.1_Intron|ZNF568_uc010efg.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	373	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)													0.435	246.83204	247.578404	87	113	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42133013	42133013	18594	19	G	A	A	37	37	ZNF568	A	1	1
ZNF585B	92285	broad.mit.edu	36	19	42369454	42369454	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42369454G>A	uc002ofq.1	-	c.825C>T	c.(823-825)TGC>TGT	p.C275C	ZNF585B_uc002ofr.1_Silent_p.C89C	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	275	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						Melanoma(93;882 1454 18863 28917 48427)								0.446759	536.901051	537.969162	193	239	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Silent	SNP	42369454	42369454	18613	19	G	A	A	38	38	ZNF585B	A	1	1
ZNF585B	92285	broad.mit.edu	36	19	42369744	42369744	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42369744T>C	uc002ofq.1	-	c.535A>G	c.(535-537)ACC>GCC	p.T179A	ZNF585B_uc002ofr.1_Intron	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	179	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						Melanoma(93;882 1454 18863 28917 48427)								0.25	221.248631	238.730565	77	231	TT		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42369744	42369744	18613	19	T	C	C	60	60	ZNF585B	C	4	4
HKR1	284459	broad.mit.edu	36	19	42545563	42545563	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42545563G>A	uc002ogb.1	+	c.1026G>A	c.(1024-1026)TCG>TCA	p.S342S	HKR1_uc002ofx.1_Silent_p.S58S|HKR1_uc002ofy.1_Silent_p.S58S|HKR1_uc002oga.2_Silent_p.S324S|HKR1_uc002ogc.1_Silent_p.S323S|HKR1_uc002ogd.1_Silent_p.S281S	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	342	C2H2-type 2.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.175258	59.739629	79.032701	34	160	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Silent	SNP	42545563	42545563	7485	19	G	A	A	37	37	HKR1	A	1	1
HKR1	284459	broad.mit.edu	36	19	42546417	42546417	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42546417G>T	uc002ogb.1	+	c.1880G>T	c.(1879-1881)AGG>ATG	p.R627M	HKR1_uc002ofx.1_Missense_Mutation_p.R343M|HKR1_uc002ofy.1_Missense_Mutation_p.R343M|HKR1_uc002oga.2_Missense_Mutation_p.R609M|HKR1_uc002ogc.1_Missense_Mutation_p.R608M|HKR1_uc002ogd.1_Missense_Mutation_p.R566M	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	627	C2H2-type 12.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.164706	45.479775	63.639636	28	142	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42546417	42546417	7485	19	G	T	T	35	35	HKR1	T	3	3
FSD1	79187	broad.mit.edu	36	19	4257206	4257206	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4257206G>A	uc002lzy.1	+	c.123G>A	c.(121-123)GCG>GCA	p.A41A	FSD1_uc002lzz.1_Silent_p.A41A	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	41	Potential.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus					0														0.154812	112.436539	166.881001	74	404	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	4257206	4257206	6320	19	G	A	A	37	37	FSD1	A	1	1
ZNF570	148268	broad.mit.edu	36	19	42653118	42653118	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42653118G>A	uc010efl.1	+	c.190G>A	c.(190-192)GCC>ACC	p.A64T	ZNF569_uc002ogi.1_5'Flank|ZNF569_uc002ogj.1_5'Flank|ZNF570_uc002ogk.1_Missense_Mutation_p.A8T	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.443137	311.372287	312.082704	113	142	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42653118	42653118	18597	19	G	A	A	34	34	ZNF570	A	2	2
ZNF571	51276	broad.mit.edu	36	19	42748492	42748492	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42748492G>A	uc002ogt.1	-	c.678C>T	c.(676-678)AAC>AAT	p.N226N	ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.1_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc010efp.1_Silent_p.N226N	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	226	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.190751	61.370403	76.842578	33	140	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Silent	SNP	42748492	42748492	18598	19	G	A	A	40	40	ZNF571	A	1	1
ZNF571	51276	broad.mit.edu	36	19	42748612	42748612	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42748612C>A	uc002ogt.1	-	c.558G>T	c.(556-558)CAG>CAT	p.Q186H	ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.1_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc010efp.1_Missense_Mutation_p.Q186H	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	186	C2H2-type 2; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.224	57.329209	66.088309	28	97	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42748612	42748612	18598	19	C	A	A	32	32	ZNF571	A	3	3
STAP2	55620	broad.mit.edu	36	19	4276460	4276460	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4276460C>T	uc002mac.1	-	c.912G>A	c.(910-912)CCG>CCA	p.P304P	STAP2_uc002mab.1_Silent_p.P304P|STAP2_uc010dtw.1_Silent_p.P304P|STAP2_uc002mad.1_Silent_p.P197P	NM_017720	NP_060190	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	304	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Hepatocellular(1079;0.137)												0.398601	459.412477	463.27597	171	258	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	4276460	4276460	15772	19	C	T	T	31	31	STAP2	T	1	1
ZNF540	163255	broad.mit.edu	36	19	42795416	42795416	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42795416G>A	uc002ogq.1	+	c.1395G>A	c.(1393-1395)AAG>AAA	p.K465K	ZNF540_uc002ogu.1_Silent_p.K465K|ZNF540_uc010efq.1_Silent_p.K433K	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1														0.257143	109.779226	119.146844	45	130	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Silent	SNP	42795416	42795416	18569	19	G	A	A	34	34	ZNF540	A	2	2
ZNF540	163255	broad.mit.edu	36	19	42795839	42795839	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42795839C>A	uc002ogq.1	+	c.1818C>A	c.(1816-1818)CCC>CCA	p.P606P	ZNF540_uc002ogu.1_Silent_p.P606P|ZNF540_uc010efq.1_Silent_p.P574P	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1														0.197452	59.0231	72.420251	31	126	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Silent	SNP	42795839	42795839	18569	19	C	A	A	24	24	ZNF540	A	3	3
ZFP30	22835	broad.mit.edu	36	19	42817825	42817825	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42817825C>T	uc002ogv.1	-	c.1457G>A	c.(1456-1458)AGA>AAA	p.R486K	ZFP30_uc002ogw.1_Missense_Mutation_p.R486K|ZFP30_uc002ogx.1_Missense_Mutation_p.R486K	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	486	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.233918	96.010009	107.091389	40	131	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42817825	42817825	18232	19	C	T	T	32	32	ZFP30	T	2	2
ZFP30	22835	broad.mit.edu	36	19	42818674	42818674	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42818674C>T	uc002ogv.1	-	c.608G>A	c.(607-609)CGA>CAA	p.R203Q	ZFP30_uc002ogw.1_Missense_Mutation_p.R203Q|ZFP30_uc002ogx.1_Missense_Mutation_p.R203Q	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	203	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.36036	323.595489	329.316568	120	213	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42818674	42818674	18232	19	C	T	T	31	31	ZFP30	T	1	1
ZNF781	163115	broad.mit.edu	36	19	42852632	42852632	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42852632C>T	uc002ogy.1	-	c.258G>A	c.(256-258)GAG>GAA	p.E86E	ZNF781_uc002ogz.1_Silent_p.E81E|ZNF781_uc010efr.1_Silent_p.E86E	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.45202	533.131953	533.931063	179	217	CC		KEEP	---	---	---	---	capture			Silent	SNP	42852632	42852632	18752	19	C	T	T	32	32	ZNF781	T	2	2
ZNF573	126231	broad.mit.edu	36	19	42922182	42922182	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42922182C>T	uc002ohe.1	-	c.1049G>A	c.(1048-1050)AGA>AAA	p.R350K	ZNF573_uc010efs.1_Missense_Mutation_p.R263K|ZNF573_uc002ohd.1_Missense_Mutation_p.R348K|ZNF573_uc002ohf.1_Missense_Mutation_p.R292K|ZNF573_uc002ohg.1_Missense_Mutation_p.R262K	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	330	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.19788	120.225824	144.288415	56	227	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		Missense_Mutation	SNP	42922182	42922182	18600	19	C	T	T	32	32	ZNF573	T	2	2
SIPA1L3	23094	broad.mit.edu	36	19	43264594	43264594	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43264594C>T	uc002ohk.1	+	c.549C>T	c.(547-549)GAC>GAT	p.D183D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	183					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.27	55.099734	59.866996	27	73	CC		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Silent	SNP	43264594	43264594	14826	19	C	T	T	19	19	SIPA1L3	T	1	1
SIPA1L3	23094	broad.mit.edu	36	19	43265178	43265178	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43265178C>T	uc002ohk.1	+	c.1133C>T	c.(1132-1134)GCC>GTC	p.A378V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	378					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.206897	22.673473	27.290403	12	46	CC		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Missense_Mutation	SNP	43265178	43265178	14826	19	C	T	T	26	26	SIPA1L3	T	2	2
SIPA1L3	23094	broad.mit.edu	36	19	43325172	43325172	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43325172A>G	uc002ohk.1	+	c.3515A>G	c.(3514-3516)TAC>TGC	p.Y1172C		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1172					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2												OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.181329	225.193792	278.314233	101	456	AA		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Missense_Mutation	SNP	43325172	43325172	14826	19	A	G	G	14	14	SIPA1L3	G	4	4
SPINT2	10653	broad.mit.edu	36	19	43472633	43472633	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43472633C>A	uc002ohr.1	+	c.426C>A	c.(424-426)TGC>TGA	p.C142*	SPINT2_uc002ohs.1_Nonsense_Mutation_p.C85*	NM_021102	NP_066925	O43291	SPIT2_HUMAN	serine protease inhibitor, Kunitz type, 2	142	Extracellular (Potential).|BPTI/Kunitz inhibitor 2.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity				0	all_cancers(60;6.83e-07)													0.231788	77.560015	87.502695	35	116	CC		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Nonsense_Mutation	SNP	43472633	43472633	15581	19	C	A	A	26	26	SPINT2	A	5	3
YIF1B	90522	broad.mit.edu	36	19	43487964	43487964	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43487964G>T	uc002ohz.1	-	c.813C>A	c.(811-813)ATC>ATA	p.I271I	YIF1B_uc002oht.2_5'Flank|YIF1B_uc002ohw.1_Silent_p.I240I|YIF1B_uc002ohx.1_Silent_p.I256I|YIF1B_uc002ohy.1_Silent_p.I268I|YIF1B_uc002oia.1_3'UTR	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	271	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)													0.461538	47.445226	47.494975	18	21	GG		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Silent	SNP	43487964	43487964	18059	19	G	T	T	33	33	YIF1B	T	3	3
PSMD8	5714	broad.mit.edu	36	19	43561813	43561813	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43561813G>A	uc002oii.2	+	c.630G>A	c.(628-630)ACG>ACA	p.T210T	PSMD8_uc010efx.1_Silent_p.T43T	NM_002812	NP_002803	P48556	PSMD8_HUMAN	proteasome 26S non-ATPase subunit 8	210					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(1)	1	all_cancers(60;3.4e-06)													0.181818	27.847322	36.221347	16	72	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43561813	43561813	13157	19	G	A	A	39	39	PSMD8	A	1	1
GGN	199720	broad.mit.edu	36	19	43566937	43566937	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43566937C>A	uc002oij.1	-	c.1914G>T	c.(1912-1914)GTG>GTT	p.V638V	GGN_uc002oik.1_Non-coding_Transcript	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	638	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)													0.14726	58.988321	93.978628	43	249	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43566937	43566937	6626	19	C	A	A	21	21	GGN	A	3	3
GGN	199720	broad.mit.edu	36	19	43568013	43568013	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43568013T>C	uc002oij.1	-	c.1729A>G	c.(1729-1731)ACC>GCC	p.T577A	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	577	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)													0.297872	36.310879	38.04273	14	33	TT		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43568013	43568013	6626	19	T	C	C	59	59	GGN	C	4	4
GGN	199720	broad.mit.edu	36	19	43568612	43568612	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43568612C>T	uc002oij.1	-	c.1130G>A	c.(1129-1131)CGA>CAA	p.R377Q	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R294Q	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	377	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)													0.285714	9.694752	10.271384	4	10	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43568612	43568612	6626	19	C	T	T	31	31	GGN	T	1	1
GGN	199720	broad.mit.edu	36	19	43569384	43569384	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43569384G>A	uc002oij.1	-	c.358C>T	c.(358-360)CCC>TCC	p.P120S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.P37S	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	120	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)													0.416667	12.169689	12.243097	5	7	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43569384	43569384	6626	19	G	A	A	41	41	GGN	A	2	2
RASGRP4	115727	broad.mit.edu	36	19	43595720	43595720	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43595720T>G	uc002oir.2	-	c.1369A>C	c.(1369-1371)AAG>CAG	p.K457Q	RASGRP4_uc010efz.1_Non-coding_Transcript|RASGRP4_uc010ega.1_Non-coding_Transcript|RASGRP4_uc010egb.1_Missense_Mutation_p.K308Q	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	457					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|skin(1)	2	all_cancers(60;4.21e-06)													0.268657	53.024786	56.258155	18	49	TT		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43595720	43595720	13538	19	T	G	G	63	63	RASGRP4	G	4	4
RYR1	6261	broad.mit.edu	36	19	43640016	43640016	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43640016G>A	uc002oit.1	+	c.1831G>A	c.(1831-1833)GTG>ATG	p.V611M	RYR1_uc002oiu.1_Missense_Mutation_p.V611M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	611	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.240506	278.576496	312.586079	133	420	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43640016	43640016	14248	19	G	A	A	48	48	RYR1	A	2	2
RYR1	6261	broad.mit.edu	36	19	43645934	43645934	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43645934G>A	uc002oit.1	+	c.2609G>A	c.(2608-2610)CGG>CAG	p.R870Q	RYR1_uc002oiu.1_Missense_Mutation_p.R870Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	870	1.|Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.20202	40.545521	48.713262	20	79	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43645934	43645934	14248	19	G	A	A	39	39	RYR1	A	1	1
RYR1	6261	broad.mit.edu	36	19	43648742	43648742	+	Silent	SNP	G	A	A	rs2228074	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43648742G>A	uc002oit.1	+	c.3042G>A	c.(3040-3042)GCG>GCA	p.A1014A	RYR1_uc002oiu.1_Silent_p.A1014A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1014	6 X approximate repeats.|2.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.456522	55.055147	55.132192	21	25	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43648742	43648742	14248	19	G	A	A	38	38	RYR1	A	1	1
RYR1	6261	broad.mit.edu	36	19	43650109	43650109	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43650109T>G	uc002oit.1	+	c.3198T>G	c.(3196-3198)TCT>TCG	p.S1066S	RYR1_uc002oiu.1_Silent_p.S1066S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1066	6 X approximate repeats.|2.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.215947	153.423534	175.824481	65	236	TT		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43650109	43650109	14248	19	T	G	G	54	54	RYR1	G	4	4
RYR1	6261	broad.mit.edu	36	19	43672626	43672626	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43672626C>T	uc002oit.1	+	c.5885C>T	c.(5884-5886)GCG>GTG	p.A1962V	RYR1_uc002oiu.1_Missense_Mutation_p.A1962V	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1962	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.19469	40.592076	50.41456	22	91	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43672626	43672626	14248	19	C	T	T	27	27	RYR1	T	1	1
RYR1	6261	broad.mit.edu	36	19	43672703	43672703	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43672703G>A	uc002oit.1	+	c.5962G>A	c.(5962-5964)GCA>ACA	p.A1988T	RYR1_uc002oiu.1_Missense_Mutation_p.A1988T	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1988	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.418605	94.781501	95.27889	36	50	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43672703	43672703	14248	19	G	A	A	38	38	RYR1	A	1	1
RYR1	6261	broad.mit.edu	36	19	43675028	43675028	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43675028C>T	uc002oit.1	+	c.6186C>T	c.(6184-6186)CGC>CGT	p.R2062R	RYR1_uc002oiu.1_Silent_p.R2062R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2062	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.432836	165.860363	166.379873	58	76	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43675028	43675028	14248	19	C	T	T	26	26	RYR1	T	2	2
RYR1	6261	broad.mit.edu	36	19	43683456	43683456	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43683456G>A	uc002oit.1	+	c.7600G>A	c.(7600-7602)GCC>ACC	p.A2534T	RYR1_uc002oiu.1_Missense_Mutation_p.A2534T|RYR1_uc002oiv.1_Non-coding_Transcript	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2534	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.242424	31.556732	35.561052	16	50	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43683456	43683456	14248	19	G	A	A	38	38	RYR1	A	1	1
RYR1	6261	broad.mit.edu	36	19	43699954	43699954	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43699954G>A	uc002oit.1	+	c.9801G>A	c.(9799-9801)CCG>CCA	p.P3267P	RYR1_uc002oiu.1_Silent_p.P3267P|RYR1_uc002oiv.1_Non-coding_Transcript	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3267					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.216867	34.815136	40.947353	18	65	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43699954	43699954	14248	19	G	A	A	38	38	RYR1	A	1	1
RYR1	6261	broad.mit.edu	36	19	43726043	43726043	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43726043C>T	uc002oit.1	+	c.11810C>T	c.(11809-11811)TCG>TTG	p.S3937L	RYR1_uc002oiu.1_Missense_Mutation_p.S3932L|RYR1_uc002oiv.1_Non-coding_Transcript	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3937					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.45614	145.482519	145.673759	52	62	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43726043	43726043	14248	19	C	T	T	31	31	RYR1	T	1	1
RYR1	6261	broad.mit.edu	36	19	43728939	43728939	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43728939C>T	uc002oit.1	+	c.12027C>T	c.(12025-12027)ATC>ATT	p.I4009I	RYR1_uc002oiu.1_Silent_p.I4004I|RYR1_uc002oiv.1_Non-coding_Transcript	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4009					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.486239	150.151312	150.169814	53	56	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43728939	43728939	14248	19	C	T	T	31	31	RYR1	T	1	1
RYR1	6261	broad.mit.edu	36	19	43754685	43754685	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43754685C>T	uc002oit.1	+	c.13933C>T	c.(13933-13935)CGG>TGG	p.R4645W	RYR1_uc002oiu.1_Missense_Mutation_p.R4640W	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4645					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|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)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.211155	104.651316	124.014578	53	198	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43754685	43754685	14248	19	C	T	T	27	27	RYR1	T	1	1
EIF3K	27335	broad.mit.edu	36	19	43806666	43806666	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43806666G>A	uc002oiz.1	+	c.268G>A	c.(268-270)GAC>AAC	p.D90N		NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3,	90					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(60;6.42e-06)|Ovarian(47;0.103)													0.446429	142.045944	142.323651	50	62	GG		KEEP	---	---	---	---	capture	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43806666	43806666	5212	19	G	A	A	37	37	EIF3K	A	1	1
CHAF1A	10036	broad.mit.edu	36	19	4383037	4383037	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4383037G>A	uc002mal.1	+	c.2036G>A	c.(2035-2037)CGC>CAC	p.R679H		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	679	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin assembly complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)	1		Hepatocellular(1079;0.137)												0.195286	106.011721	131.637639	58	239	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	4383037	4383037	3445	19	G	A	A	38	38	CHAF1A	A	1	1
CAPN12	147968	broad.mit.edu	36	19	43916845	43916845	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43916845C>A	uc002ojd.1	-	c.1769G>T	c.(1768-1770)AGA>ATA	p.R590I	CAPN12_uc010egd.1_Intron|CAPN12_uc002ojc.1_Missense_Mutation_p.R44I	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	590	Domain IV.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)													0.19685	45.489526	56.377694	25	102	CC		KEEP	---	---	---	---	capture	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		Missense_Mutation	SNP	43916845	43916845	2742	19	C	A	A	32	32	CAPN12	A	3	3
LGALS4	3960	broad.mit.edu	36	19	43994950	43994950	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43994950G>T	uc002ojg.1	-	c.95C>A	c.(94-96)TCT>TAT	p.S32Y		NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	32	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding				0	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)													0.19697	45.24975	56.576109	26	106	GG		KEEP	---	---	---	---	capture	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		Missense_Mutation	SNP	43994950	43994950	9070	19	G	T	T	33	33	LGALS4	T	3	3
SIRT2	22933	broad.mit.edu	36	19	44061662	44061662	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44061662C>A	uc002ojt.1	-	c.1143G>T	c.(1141-1143)AGG>AGT	p.R381S	RINL_uc002ojq.1_5'Flank|SIRT2_uc010egh.1_3'UTR|SIRT2_uc010egi.1_Missense_Mutation_p.R344S|SIRT2_uc002ojs.1_Missense_Mutation_p.R361S|SIRT2_uc002oju.1_Missense_Mutation_p.R344S|SIRT2_uc002ojv.1_Missense_Mutation_p.R379S|SIRT2_uc010egj.1_Missense_Mutation_p.R344S	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	381					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)													0.153333	28.63402	45.88912	23	127	CC		KEEP	---	---	---	---	capture	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		Missense_Mutation	SNP	44061662	44061662	14833	19	C	A	A	30	30	SIRT2	A	3	3
NFKBIB	4793	broad.mit.edu	36	19	44090042	44090042	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44090042G>A	uc002ojw.1	+	c.872G>A	c.(871-873)CGC>CAC	p.R291H	NFKBIB_uc002ojx.1_Missense_Mutation_p.R259H|NFKBIB_uc002ojy.1_Missense_Mutation_p.R291H	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	291	ANK 6.				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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			kidney(1)	1	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)					Pancreas(165;1492 2005 6979 7739 34483)								0.413043	89.702717	90.316466	38	54	GG		KEEP	---	---	---	---	capture	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		Missense_Mutation	SNP	44090042	44090042	10778	19	G	A	A	38	38	NFKBIB	A	1	1
SARS2	54938	broad.mit.edu	36	19	44102305	44102305	+	Silent	SNP	G	T	T	rs35389151	by-frequency	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44102305G>T	uc002oka.1	-	c.696C>A	c.(694-696)CGC>CGA	p.R232R	SARS2_uc002ojz.1_Silent_p.R42R|SARS2_uc002okb.1_Silent_p.R232R	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2	232					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)	2	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)													0.18018	39.831423	50.509516	20	91	GG		KEEP	---	---	---	---	capture	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		Silent	SNP	44102305	44102305	14326	19	G	T	T	38	38	SARS2	T	3	3
SARS2	54938	broad.mit.edu	36	19	44108739	44108739	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44108739G>A	uc002oka.1	-	c.309C>T	c.(307-309)ATC>ATT	p.I103I	SARS2_uc002ojz.1_5'UTR|SARS2_uc002okb.1_Silent_p.I103I	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2	103					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)	2	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)													0.436508	154.305922	154.748251	55	71	GG		KEEP	---	---	---	---	capture	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		Silent	SNP	44108739	44108739	14326	19	G	A	A	41	41	SARS2	A	2	2
FBXO17	115290	broad.mit.edu	36	19	44128966	44128966	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44128966G>T	uc002okf.1	-	c.570C>A	c.(568-570)ATC>ATA	p.I190I	FBXO17_uc002okg.1_Silent_p.I181I	NM_148169	NP_680474	Q96EF6	FBX17_HUMAN	F-box protein FBG4 isoform 1	181	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding				0	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)													0.184211	35.701263	46.376226	21	93	GG		KEEP	---	---	---	---	capture	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		Silent	SNP	44128966	44128966	5967	19	G	T	T	33	33	FBXO17	T	3	3
IL28A	282616	broad.mit.edu	36	19	44451978	44451978	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44451978G>A	uc002oku.1	+	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A	94					response to virus	extracellular space	cytokine activity			ovary(1)	1	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)													0.25	49.143388	54.120566	22	66	GG		KEEP	---	---	---	---	capture	Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		Missense_Mutation	SNP	44451978	44451978	7983	19	G	A	A	38	38	IL28A	A	1	1
IL29	282618	broad.mit.edu	36	19	44480948	44480948	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44480948C>T	uc002okv.1	+	c.555C>T	c.(553-555)GCC>GCT	p.A185A		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	interleukin 29	185					defense response to virus|negative regulation of cell proliferation|positive regulation of immune response|positive regulation of MHC class I biosynthetic process|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding				0	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)													0.207729	196.524432	229.211023	86	328	CC		KEEP	---	---	---	---	capture	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		Silent	SNP	44480948	44480948	7986	19	C	T	T	23	23	IL29	T	1	1
GMFG	9535	broad.mit.edu	36	19	44511543	44511543	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44511543C>T	uc002okz.2	-	c.294G>A	c.(292-294)CCG>CCA	p.P98P	GMFG_uc002okx.2_Silent_p.P98P|GMFG_uc002oky.1_Silent_p.P65P	NM_004877	NP_004868	O60234	GMFG_HUMAN	glia maturation factor, gamma	98	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)													0.458065	205.118301	205.353725	71	84	CC		KEEP	---	---	---	---	capture	Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		Silent	SNP	44511543	44511543	6759	19	C	T	T	23	23	GMFG	T	1	1
SAMD4B	55095	broad.mit.edu	36	19	44552244	44552244	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44552244G>T	uc002olb.1	+	c.306G>T	c.(304-306)ATG>ATT	p.M102I	SAMD4B_uc002ola.2_Missense_Mutation_p.M102I	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	102							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)													0.275	71.503666	76.990071	33	87	GG		KEEP	---	---	---	---	capture	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		Missense_Mutation	SNP	44552244	44552244	14302	19	G	T	T	45	45	SAMD4B	T	3	3
SAMD4B	55095	broad.mit.edu	36	19	44563522	44563522	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44563522G>A	uc002olb.1	+	c.1901G>A	c.(1900-1902)CGC>CAC	p.R634H	SAMD4B_uc002ola.2_Missense_Mutation_p.R634H	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	634							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)													0.218391	74.659093	87.380356	38	136	GG		KEEP	---	---	---	---	capture	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		Missense_Mutation	SNP	44563522	44563522	14302	19	G	A	A	38	38	SAMD4B	A	1	1
PAF1	54623	broad.mit.edu	36	19	44571641	44571641	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44571641C>A	uc002old.1	-	c.499G>T	c.(499-501)GAA>TAA	p.E167*	PAF1_uc002ole.1_Nonsense_Mutation_p.E157*|MED29_uc002olf.1_5'Flank|MED29_uc002olg.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	167					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)													0.472464	441.965176	442.194257	163	182	CC		KEEP	---	---	---	---	capture	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		Nonsense_Mutation	SNP	44571641	44571641	11799	19	C	A	A	32	32	PAF1	A	5	3
PLEKHG2	64857	broad.mit.edu	36	19	44605890	44605890	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44605890G>T	uc002oli.2	+	c.2230G>T	c.(2230-2232)GAG>TAG	p.E744*	PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010ego.1_Nonsense_Mutation_p.E715*	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	786					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			pancreas(1)|breast(1)|skin(1)	3	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)													0.257143	18.151644	20.029386	9	26	GG		KEEP	---	---	---	---	capture	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		Nonsense_Mutation	SNP	44605890	44605890	12495	19	G	T	T	33	33	PLEKHG2	T	5	3
PLEKHG2	64857	broad.mit.edu	36	19	44605981	44605981	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44605981G>A	uc002oli.2	+	c.2321G>A	c.(2320-2322)CGA>CAA	p.R774Q	PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010ego.1_Missense_Mutation_p.R745Q	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	816					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			pancreas(1)|breast(1)|skin(1)	3	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)													0.304348	17.21454	18.001192	7	16	GG		KEEP	---	---	---	---	capture	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		Missense_Mutation	SNP	44605981	44605981	12495	19	G	A	A	37	37	PLEKHG2	A	1	1
PLIN4	729359	broad.mit.edu	36	19	4462388	4462388	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4462388T>G	uc002mar.1	-	c.2542A>C	c.(2542-2544)AAG>CAG	p.K848Q	PLIN4_uc010dub.1_Intron	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	848	27 X 33 AA approximate tandem repeat.|23.					lipid particle|plasma membrane					0														0.53169	504.551773	504.803813	151	133	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4462388	4462388	12518	19	T	G	G	64	64	PLIN4	G	4	4
PLIN4	729359	broad.mit.edu	36	19	4464161	4464161	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4464161C>T	uc002mar.1	-	c.769G>A	c.(769-771)GTC>ATC	p.V257I	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	257	27 X 33 AA approximate tandem repeat.|5.					lipid particle|plasma membrane					0														0.393103	291.961182	294.867452	114	176	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4464161	4464161	12518	19	C	T	T	19	19	PLIN4	T	1	1
SUPT5H	6829	broad.mit.edu	36	19	44652981	44652981	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44652981G>A	uc002olo.2	+	c.1655G>A	c.(1654-1656)CGA>CAA	p.R552Q	SUPT5H_uc002oln.2_Missense_Mutation_p.R552Q|SUPT5H_uc002olp.2_Missense_Mutation_p.R552Q|SUPT5H_uc002olq.2_Missense_Mutation_p.R548Q|SUPT5H_uc002olr.2_Missense_Mutation_p.R552Q|SUPT5H_uc002ols.1_Missense_Mutation_p.R175Q|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	552					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|negative transcription elongation factor activity|positive transcription elongation factor activity|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)													0.373737	392.670831	398.224469	148	248	GG		KEEP	---	---	---	---	capture	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		Missense_Mutation	SNP	44652981	44652981	15919	19	G	A	A	37	37	SUPT5H	A	1	1
SUPT5H	6829	broad.mit.edu	36	19	44656828	44656828	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44656828G>T	uc002olo.2	+	c.2766G>T	c.(2764-2766)CAG>CAT	p.Q922H	SUPT5H_uc002oln.2_Missense_Mutation_p.Q922H|SUPT5H_uc002olp.2_Missense_Mutation_p.Q922H|SUPT5H_uc002olq.2_Missense_Mutation_p.Q918H|SUPT5H_uc002olr.2_Missense_Mutation_p.Q922H|SUPT5H_uc002ols.1_Missense_Mutation_p.Q545H	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	922	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|negative transcription elongation factor activity|positive transcription elongation factor activity|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.166667	22.334344	32.46065	16	80	GG		KEEP	---	---	---	---	capture	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		Missense_Mutation	SNP	44656828	44656828	15919	19	G	T	T	33	33	SUPT5H	T	3	3
DLL3	10683	broad.mit.edu	36	19	44690403	44690403	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44690403G>A	uc002olx.2	+	c.1767G>A	c.(1765-1767)ACG>ACA	p.T589T	DLL3_uc002olw.2_Intron	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	589	Cytoplasmic (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)													0.311927	78.691073	82.136373	34	75	GG		KEEP	---	---	---	---	capture	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		Silent	SNP	44690403	44690403	4747	19	G	A	A	38	38	DLL3	A	1	1
PLIN5	440503	broad.mit.edu	36	19	4474682	4474682	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4474682C>A	uc002mas.1	-	c.1250G>T	c.(1249-1251)AGA>ATA	p.R417I		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	417						lipid particle					0												OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.137536	41.508007	86.033403	48	301	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4474682	4474682	12519	19	C	A	A	32	32	PLIN5	A	3	3
PLIN5	440503	broad.mit.edu	36	19	4476767	4476767	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4476767G>A	uc002mas.1	-	c.598C>T	c.(598-600)CGC>TGC	p.R200C		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	200						lipid particle					0														0.507576	186.760038	186.767927	67	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4476767	4476767	12519	19	G	A	A	38	38	PLIN5	A	1	1
LRG1	116844	broad.mit.edu	36	19	4489425	4489425	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4489425G>A	uc002mau.1	-	c.571C>T	c.(571-573)CGC>TGC	p.R191C	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	191	LRR 5.					extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)												0.542955	896.793123	897.725555	316	266	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	4489425	4489425	9315	19	G	A	A	38	38	LRG1	A	1	1
DYRK1B	9149	broad.mit.edu	36	19	45012882	45012882	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45012882C>T	uc002omj.1	-	c.345G>A	c.(343-345)TCG>TCA	p.S115S	DYRK1B_uc002omi.1_Silent_p.S115S|DYRK1B_uc002omk.1_Silent_p.S115S|DYRK1B_uc002oml.2_Silent_p.S115S	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	115	Protein kinase.				positive regulation of transcription, DNA-dependent|protein phosphorylation	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|central_nervous_system(1)|skin(1)	6	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)									105				0.222222	64.9653	75.843991	34	119	CC		KEEP	---	---	---	---	capture	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		Silent	SNP	45012882	45012882	5041	19	C	T	T	27	27	DYRK1B	T	1	1
FBL	2091	broad.mit.edu	36	19	45017245	45017245	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45017245C>T	uc002omn.1	-	c.844G>A	c.(844-846)GAA>AAA	p.E282K	DYRK1B_uc002omi.1_5'Flank|DYRK1B_uc002omj.1_5'Flank|DYRK1B_uc002omk.1_5'Flank|DYRK1B_uc002oml.2_5'Flank|FBL_uc002omm.1_Missense_Mutation_p.E196K|FBL_uc002omo.1_Missense_Mutation_p.E281K	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	282	Helical (Potential).				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)												0.234783	58.569865	65.969143	27	88	CC		KEEP	---	---	---	---	capture	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	Missense_Mutation	SNP	45017245	45017245	5932	19	C	T	T	31	31	FBL	T	1	1
FCGBP	8857	broad.mit.edu	36	19	45049316	45049316	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45049316G>A	uc002omp.2	-	c.15837C>T	c.(15835-15837)GCC>GCT	p.A5279A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5279	VWFD 13.					extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)													0.264516	105.643774	113.389049	41	114	GG		KEEP	---	---	---	---	capture	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		Silent	SNP	45049316	45049316	6015	19	G	A	A	39	39	FCGBP	A	1	1
FCGBP	8857	broad.mit.edu	36	19	45054706	45054706	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45054706A>G	uc002omp.2	-	c.15204T>C	c.(15202-15204)AGT>AGC	p.S5068S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5068						extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)													0.163121	88.656931	119.027995	46	236	AA		KEEP	---	---	---	---	capture	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		Silent	SNP	45054706	45054706	6015	19	A	G	G	10	10	FCGBP	G	4	4
FCGBP	8857	broad.mit.edu	36	19	45111654	45111654	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45111654C>T	uc002omp.2	-	c.3180G>A	c.(3178-3180)CAG>CAA	p.Q1060Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1060	VWFD 2.					extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)													0.164319	64.792605	87.584164	35	178	CC		KEEP	---	---	---	---	capture	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		Silent	SNP	45111654	45111654	6015	19	C	T	T	32	32	FCGBP	T	2	2
PSMC4	5704	broad.mit.edu	36	19	45170167	45170167	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45170167G>A	uc002omq.1	+	c.187G>A	c.(187-189)GAT>AAT	p.D63N	PSMC4_uc002omr.1_Intron	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	63					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					Colon(105;1478 1543 4034 6132 38638)								0.205674	64.790069	76.122178	29	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45170167	45170167	13142	19	G	A	A	33	33	PSMC4	A	2	2
PSMC4	5704	broad.mit.edu	36	19	45177696	45177696	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45177696C>T	uc002omq.1	+	c.806C>T	c.(805-807)GCC>GTC	p.A269V	PSMC4_uc002omr.1_Missense_Mutation_p.A238V	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	269					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					Colon(105;1478 1543 4034 6132 38638)								0.429907	131.361554	131.812875	46	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45177696	45177696	13142	19	C	T	T	26	26	PSMC4	T	2	2
PSMC4	5704	broad.mit.edu	36	19	45177864	45177864	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45177864G>A	uc002omq.1	+	c.889G>A	c.(889-891)GAT>AAT	p.D297N	PSMC4_uc002omr.1_Missense_Mutation_p.D266N	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					Colon(105;1478 1543 4034 6132 38638)								0.230769	44.311272	50.377283	21	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45177864	45177864	13142	19	G	A	A	41	41	PSMC4	A	2	2
ZNF546	339327	broad.mit.edu	36	19	45213136	45213136	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45213136C>T	uc002oms.1	+	c.2119C>T	c.(2119-2121)CGA>TGA	p.R707*	ZNF546_uc002omt.1_Nonsense_Mutation_p.R681*	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	707	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.223881	64.57418	73.971093	30	104	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	45213136	45213136	18573	19	C	T	T	31	31	ZNF546	T	5	1
ZNF546	339327	broad.mit.edu	36	19	45213313	45213313	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45213313C>T	uc002oms.1	+	c.2296C>T	c.(2296-2298)CGA>TGA	p.R766*	ZNF546_uc002omt.1_Nonsense_Mutation_p.R740*	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	766	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.224242	81.190643	92.721958	37	128	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	45213313	45213313	18573	19	C	T	T	31	31	ZNF546	T	5	1
ZNF780B	163131	broad.mit.edu	36	19	45233064	45233064	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45233064C>T	uc002omu.1	-	c.1533G>A	c.(1531-1533)TCG>TCA	p.S511S	ZNF780B_uc002omv.1_Silent_p.S366S	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	514	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.3125	138.445775	143.855225	55	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	45233064	45233064	18751	19	C	T	T	31	31	ZNF780B	T	1	1
ZNF780B	163131	broad.mit.edu	36	19	45233597	45233597	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45233597C>T	uc002omu.1	-	c.1000G>A	c.(1000-1002)GAA>AAA	p.E334K	ZNF780B_uc002omv.1_Missense_Mutation_p.E189K	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	337	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.158974	53.690561	75.310178	31	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45233597	45233597	18751	19	C	T	T	32	32	ZNF780B	T	2	2
ZNF780A	284323	broad.mit.edu	36	19	45272906	45272906	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45272906C>T	uc002omy.1	-	c.1283G>A	c.(1282-1284)CGT>CAT	p.R428H	ZNF780A_uc002omw.2_Intron|ZNF780A_uc002omx.1_Missense_Mutation_p.R394H|ZNF780A_uc002omz.1_Missense_Mutation_p.R428H	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	428	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.199634	212.379021	258.204813	109	437	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45272906	45272906	18750	19	C	T	T	19	19	ZNF780A	T	1	1
MAP3K10	4294	broad.mit.edu	36	19	45390264	45390264	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45390264C>T	uc002ona.1	+	c.486C>T	c.(484-486)GGC>GGT	p.G162G		NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	162	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|protein homodimerization activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6										92				0.175926	29.740872	40.376788	19	89	CC		KEEP	---	---	---	---	capture			Silent	SNP	45390264	45390264	9627	19	C	T	T	27	27	MAP3K10	T	1	1
PRX	57716	broad.mit.edu	36	19	45594354	45594354	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45594354A>G	uc002onr.1	-	c.1745T>C	c.(1744-1746)GTC>GCC	p.V582A	PRX_uc002onq.1_Missense_Mutation_p.V443A|PRX_uc002ons.1_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	582	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|24.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2														0.463822	815.186295	815.815413	250	289	AA		KEEP	---	---	---	---	capture	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45594354	45594354	13093	19	A	G	G	10	10	PRX	G	4	4
SERTAD1	29950	broad.mit.edu	36	19	45621068	45621068	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45621068G>A	uc002ont.2	-	c.226C>T	c.(226-228)CGC>TGC	p.R76C		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	76	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent						0														0.5	46.573362	46.573362	17	17	GG		KEEP	---	---	---	---	capture	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45621068	45621068	14608	19	G	A	A	38	38	SERTAD1	A	1	1
SPTBN4	57731	broad.mit.edu	36	19	45765940	45765940	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45765940G>A	uc002ony.1	+	c.6868G>A	c.(6868-6870)GAG>AAG	p.E2290K	SPTBN4_uc002onz.1_Missense_Mutation_p.E2290K|SPTBN4_uc010egx.1_Missense_Mutation_p.E1033K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2290					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)	4														0.36	24.666715	25.098667	9	16	GG		KEEP	---	---	---	---	capture	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45765940	45765940	15635	19	G	A	A	41	41	SPTBN4	A	2	2
SHKBP1	92799	broad.mit.edu	36	19	45776222	45776222	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45776222C>A	uc002oob.1	+	c.334C>A	c.(334-336)CTT>ATT	p.L112I	SHKBP1_uc002ooc.1_Missense_Mutation_p.L112I|SHKBP1_uc002ood.1_Missense_Mutation_p.L112I|SHKBP1_uc002ooe.1_5'UTR|SHKBP1_uc002oof.1_5'UTR	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	112						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2														0.212976	315.200025	369.210755	151	558	CC		KEEP	---	---	---	---	capture	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45776222	45776222	14779	19	C	A	A	28	28	SHKBP1	A	3	3
SHKBP1	92799	broad.mit.edu	36	19	45784670	45784670	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45784670C>A	uc002oob.1	+	c.1316C>A	c.(1315-1317)TCG>TAG	p.S439*	SHKBP1_uc002ooc.1_Nonsense_Mutation_p.S414*|SHKBP1_uc002ood.1_Nonsense_Mutation_p.S439*|SHKBP1_uc002ooe.1_Nonsense_Mutation_p.S276*|SHKBP1_uc002oof.1_Nonsense_Mutation_p.S276*	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	439	WD 4.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2														0.205882	129.982934	151.776455	56	216	CC		KEEP	---	---	---	---	capture	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Nonsense_Mutation	SNP	45784670	45784670	14779	19	C	A	A	31	31	SHKBP1	A	5	3
SHKBP1	92799	broad.mit.edu	36	19	45786395	45786395	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45786395G>T	uc002oob.1	+	c.1362G>T	c.(1360-1362)CGG>CGT	p.R454R	SHKBP1_uc002ooc.1_Silent_p.R429R|SHKBP1_uc002ood.1_Silent_p.R454R|SHKBP1_uc002ooe.1_Silent_p.R291R|SHKBP1_uc002oof.1_Silent_p.R291R	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	454	WD 4.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2														0.196532	123.977048	153.698483	68	278	GG		KEEP	---	---	---	---	capture	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Silent	SNP	45786395	45786395	14779	19	G	T	T	41	41	SHKBP1	T	3	3
LTBP4	8425	broad.mit.edu	36	19	45814877	45814877	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45814877C>T	uc002ooh.1	+	c.3177C>T	c.(3175-3177)TGC>TGT	p.C1059C	LTBP4_uc002oog.1_Silent_p.C1022C|LTBP4_uc002ooi.1_Silent_p.C992C|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_Non-coding_Transcript	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1059	Cys-rich.|EGF-like 12; calcium-binding (Potential).				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														0.157143	14.886995	22.744119	11	59	CC		KEEP	---	---	---	---	capture	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Silent	SNP	45814877	45814877	9452	19	C	T	T	27	27	LTBP4	T	1	1
LTBP4	8425	broad.mit.edu	36	19	45821395	45821395	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45821395C>T	uc002ooh.1	+	c.3804C>T	c.(3802-3804)GGC>GGT	p.G1268G	LTBP4_uc002oog.1_Silent_p.G1231G|LTBP4_uc002ooi.1_Silent_p.G1201G|LTBP4_uc002ooj.1_Silent_p.G141G|LTBP4_uc002ook.1_Silent_p.G402G|LTBP4_uc002ool.1_Silent_p.G280G	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1268	EGF-like 13; calcium-binding (Potential).				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														0.521127	102.071876	102.099457	37	34	CC		KEEP	---	---	---	---	capture	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Silent	SNP	45821395	45821395	9452	19	C	T	T	27	27	LTBP4	T	1	1
LTBP4	8425	broad.mit.edu	36	19	45824727	45824727	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45824727C>T	uc002ooh.1	+	c.4194C>T	c.(4192-4194)TTC>TTT	p.F1398F	LTBP4_uc002oog.1_Silent_p.F1361F|LTBP4_uc002ooi.1_Silent_p.F1331F|LTBP4_uc002ooj.1_Silent_p.F271F|LTBP4_uc002ook.1_Silent_p.F532F|LTBP4_uc002ool.1_Silent_p.F410F	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1398	TB 4.				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														0.365385	50.307959	51.137882	19	33	CC		KEEP	---	---	---	---	capture	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Silent	SNP	45824727	45824727	9452	19	C	T	T	31	31	LTBP4	T	1	1
RAB4B	53916	broad.mit.edu	36	19	45978155	45978155	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45978155C>T	uc002opf.1	+	c.201C>T	c.(199-201)ATC>ATT	p.I67I	RAB4B_uc002opc.1_Non-coding_Transcript|RAB4B_uc002opd.1_Silent_p.I41I|RAB4B_uc002ope.1_Non-coding_Transcript|EGLN2_uc010ehd.1_5'UTR	NM_016154	NP_057238	P61018	RAB4B_HUMAN	ras-related GTP-binding protein 4b	41	Effector region (By similarity).				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			skin(1)	1														0.163265	13.567823	18.84911	8	41	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Silent	SNP	45978155	45978155	13406	19	C	T	T	31	31	RAB4B	T	1	1
C19orf10	56005	broad.mit.edu	36	19	4611692	4611692	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4611692C>T	uc002may.1	-	c.358G>A	c.(358-360)GCC>ACC	p.A120T		NM_019107	NP_061980	Q969H8	CS010_HUMAN	hypothetical protein LOC56005	120						ER-Golgi intermediate compartment|extracellular region					0		Hepatocellular(1079;0.137)												0.13198	29.81344	55.749092	26	171	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)	Missense_Mutation	SNP	4611692	4611692	1970	19	C	T	T	27	27	C19orf10	T	1	1
CYP2S1	29785	broad.mit.edu	36	19	46399011	46399011	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46399011G>T	uc002opw.1	+	c.870G>T	c.(868-870)AAG>AAT	p.K290N		NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	290					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity				0														0.411215	233.034579	234.514105	88	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46399011	46399011	4339	19	G	T	T	33	33	CYP2S1	T	3	3
AXL	558	broad.mit.edu	36	19	46435806	46435806	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46435806C>T	uc010ehj.1	+	c.901C>T	c.(901-903)CCT>TCT	p.P301S	AXL_uc010ehi.1_Missense_Mutation_p.P301S|AXL_uc010ehk.1_Missense_Mutation_p.P301S	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	301	Extracellular (Potential).|Fibronectin type-III 1.				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)	8										318				0.201954	111.474087	136.857828	62	245	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46435806	46435806	1259	19	C	T	T	30	30	AXL	T	2	2
AXL	558	broad.mit.edu	36	19	46441411	46441411	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46441411G>A	uc010ehj.1	+	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	AXL_uc010ehi.1_Missense_Mutation_p.R499H|AXL_uc010ehk.1_Missense_Mutation_p.R490H	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	499	Cytoplasmic (Potential).		R -> C (in a gastric adenocarcinoma sample; somatic mutation).		protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)	8										318				0.202899	134.842848	163.142381	70	275	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46441411	46441411	1259	19	G	A	A	38	38	AXL	A	1	1
AXL	558	broad.mit.edu	36	19	46451386	46451386	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46451386G>A	uc010ehj.1	+	c.1969G>A	c.(1969-1971)GCC>ACC	p.A657T	AXL_uc010ehk.1_Missense_Mutation_p.A648T	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	657	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)	8										318				0.285714	51.159794	54.308603	22	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46451386	46451386	1259	19	G	A	A	38	38	AXL	A	1	1
HNRNPUL1	11100	broad.mit.edu	36	19	46476836	46476836	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46476836C>A	uc002oqb.2	+	c.801C>A	c.(799-801)ATC>ATA	p.I267I	HNRNPUL1_uc002opz.2_Silent_p.I167I|HNRNPUL1_uc002oqa.2_Silent_p.I167I|HNRNPUL1_uc010ehl.1_Silent_p.I167I|HNRNPUL1_uc010ehm.1_Silent_p.I267I|HNRNPUL1_uc002oqc.2_Intron|HNRNPUL1_uc002oqe.2_Intron|HNRNPUL1_uc002oqd.2_Silent_p.I167I|HNRNPUL1_uc010ehn.1_Silent_p.I167I|HNRNPUL1_uc010eho.1_Silent_p.I167I|HNRNPUL1_uc010ehp.1_Silent_p.I123I	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	267	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding				0														0.170213	88.162122	122.061612	56	273	CC		KEEP	---	---	---	---	capture			Silent	SNP	46476836	46476836	7566	19	C	A	A	32	32	HNRNPUL1	A	3	3
HNRNPUL1	11100	broad.mit.edu	36	19	46500484	46500484	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46500484G>A	uc002oqb.2	+	c.1762G>A	c.(1762-1764)GAC>AAC	p.D588N	HNRNPUL1_uc002opz.2_Missense_Mutation_p.D488N|HNRNPUL1_uc002oqa.2_Missense_Mutation_p.D488N|HNRNPUL1_uc010ehm.1_Missense_Mutation_p.D588N|HNRNPUL1_uc002oqc.2_Missense_Mutation_p.D474N|HNRNPUL1_uc002oqe.2_Intron|HNRNPUL1_uc002oqd.2_Missense_Mutation_p.D488N|HNRNPUL1_uc010ehn.1_Missense_Mutation_p.D488N|HNRNPUL1_uc010eho.1_Missense_Mutation_p.D488N|HNRNPUL1_uc010ehp.1_Missense_Mutation_p.D444N|HNRNPUL1_uc002oqf.2_Missense_Mutation_p.D112N	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	588	Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding				0														0.216049	70.683237	82.710341	35	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46500484	46500484	7566	19	G	A	A	41	41	HNRNPUL1	A	2	2
BCKDHA	593	broad.mit.edu	36	19	46576182	46576182	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46576182C>A	uc002oqm.2	+	c.128C>A	c.(127-129)TCC>TAC	p.S43Y	TMEM91_uc002oqi.2_Missense_Mutation_p.S43Y|TMEM91_uc010ehq.1_Missense_Mutation_p.S43Y|TMEM91_uc002oql.2_Missense_Mutation_p.S43Y|TMEM91_uc010ehr.1_Missense_Mutation_p.S43Y|TMEM91_uc010ehs.1_Missense_Mutation_p.S43Y|TMEM91_uc010eht.1_Missense_Mutation_p.S43Y|TMEM91_uc002oqk.2_Missense_Mutation_p.S43Y|TMEM91_uc002oqn.1_Missense_Mutation_p.S43Y	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	Error:Variant_position_missing_in_P12694_after_alignment					branched chain family amino acid catabolic process|oxidation-reduction process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0														0.164251	45.936308	68.105875	34	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46576182	46576182	1380	19	C	A	A	30	30	BCKDHA	A	3	3
EXOSC5	56915	broad.mit.edu	36	19	46590697	46590697	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46590697G>A	uc002oqo.1	-	c.177C>T	c.(175-177)TAC>TAT	p.Y59Y	BCKDHA_uc002oqm.2_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	exosome component Rrp46	59					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding				0														0.362319	123.511557	125.812804	50	88	GG		KEEP	---	---	---	---	capture			Silent	SNP	46590697	46590697	5511	19	G	A	A	40	40	EXOSC5	A	1	1
BCKDHA	593	broad.mit.edu	36	19	46620018	46620018	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46620018C>T	uc002oqm.2	+	c.858C>T	c.(856-858)TTC>TTT	p.F286F	BCKDHA_uc002oqp.1_Silent_p.F144F|BCKDHA_uc002oqq.1_Silent_p.F252F|BCKDHA_uc002oqr.1_Silent_p.F252F	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	252					branched chain family amino acid catabolic process|oxidation-reduction process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0														0.475138	235.641278	235.737023	86	95	CC		KEEP	---	---	---	---	capture			Silent	SNP	46620018	46620018	1380	19	C	T	T	31	31	BCKDHA	T	1	1
BCKDHA	593	broad.mit.edu	36	19	46620434	46620434	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46620434C>T	uc002oqm.2	+	c.1016C>T	c.(1015-1017)GCC>GTC	p.A339V	BCKDHA_uc002oqp.1_Missense_Mutation_p.A197V|BCKDHA_uc002oqq.1_Missense_Mutation_p.A305V|BCKDHA_uc002oqr.1_Missense_Mutation_p.A304V	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	305					branched chain family amino acid catabolic process|oxidation-reduction process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0														0.369295	240.405696	244.026288	89	152	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46620434	46620434	1380	19	C	T	T	26	26	BCKDHA	T	2	2
CEACAM5	1048	broad.mit.edu	36	19	46911514	46911514	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46911514C>A	uc002ork.2	+	c.809C>A	c.(808-810)TCT>TAT	p.S270Y	CEACAM5_uc002orl.1_Missense_Mutation_p.S270Y|CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Missense_Mutation_p.S270Y	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	270	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane					0														0.171233	38.333235	53.340102	25	121	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	Missense_Mutation	SNP	46911514	46911514	3328	19	C	A	A	32	32	CEACAM5	A	3	3
ARHGEF1	9138	broad.mit.edu	36	19	47088727	47088727	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47088727C>T	uc002osa.1	+	c.626C>T	c.(625-627)GCG>GTG	p.A209V	ARHGEF1_uc002orw.1_Missense_Mutation_p.A194V|ARHGEF1_uc002orx.1_Missense_Mutation_p.A194V|ARHGEF1_uc002ory.1_Missense_Mutation_p.A161V|ARHGEF1_uc002orz.1_Missense_Mutation_p.A32V|ARHGEF1_uc002osb.1_Missense_Mutation_p.A176V|ARHGEF1_uc002osc.2_5'Flank	NM_199002	NP_945353	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	194	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)												0.571429	45.599936	45.724324	16	12	CC		KEEP	---	---	---	---	capture		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	Missense_Mutation	SNP	47088727	47088727	907	19	C	T	T	27	27	ARHGEF1	T	1	1
ATP1A3	478	broad.mit.edu	36	19	47177773	47177773	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47177773C>T	uc002osg.1	-	c.1243G>A	c.(1243-1245)GCT>ACT	p.A415T	ATP1A3_uc002osh.2_Missense_Mutation_p.A415T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	415	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2														0.419643	126.298498	126.930535	47	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47177773	47177773	1149	19	C	T	T	27	27	ATP1A3	T	1	1
ATP1A3	478	broad.mit.edu	36	19	47178074	47178074	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47178074G>A	uc002osg.1	-	c.1018C>T	c.(1018-1020)CGC>TGC	p.R340C	ATP1A3_uc002osh.2_Missense_Mutation_p.R340C	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	340	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2														0.25	120.960896	133.924165	57	171	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47178074	47178074	1149	19	G	A	A	38	38	ATP1A3	A	1	1
GRIK5	2901	broad.mit.edu	36	19	47199432	47199432	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47199432C>T	uc002osj.1	-	c.2406G>A	c.(2404-2406)GAG>GAA	p.E802E	GRIK5_uc002osi.1_Silent_p.E374E	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	802	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)									0.482014	203.310527	203.349993	67	72	CC		KEEP	---	---	---	---	capture			Silent	SNP	47199432	47199432	7056	19	C	T	T	32	32	GRIK5	T	2	2
POU2F2	5452	broad.mit.edu	36	19	47291676	47291676	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47291676G>T	uc002osp.1	-	c.815C>A	c.(814-816)TCT>TAT	p.S272Y	POU2F2_uc002osn.1_Missense_Mutation_p.S256Y|POU2F2_uc002oso.1_Missense_Mutation_p.S45Y|POU2F2_uc002osq.1_Missense_Mutation_p.S256Y|POU2F2_uc002osr.1_Missense_Mutation_p.S272Y	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	272					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|skin(1)	2		Prostate(69;0.059)												0.68	92.440488	93.877855	34	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47291676	47291676	12702	19	G	T	T	33	33	POU2F2	T	3	3
ERF	2077	broad.mit.edu	36	19	47445850	47445850	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47445850G>T	uc002ote.2	-	c.342C>A	c.(340-342)GTC>GTA	p.V114V	ERF_uc002otd.2_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	114					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.00682)												0.197889	144.689107	176.922579	75	304	GG		KEEP	---	---	---	---	capture			Silent	SNP	47445850	47445850	5414	19	G	T	T	45	45	ERF	T	3	3
CIC	23152	broad.mit.edu	36	19	47488399	47488399	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47488399C>T	uc002otf.1	+	c.3116C>T	c.(3115-3117)GCT>GTT	p.A1039V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1039	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)	8		Prostate(69;0.00682)								241				0.153226	31.341977	45.616732	19	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47488399	47488399	3558	19	C	T	T	28	28	CIC	T	2	2
CIC	23152	broad.mit.edu	36	19	47490255	47490255	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47490255G>T	uc002otf.1	+	c.4286G>T	c.(4285-4287)AGT>ATT	p.S1429I		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)	8		Prostate(69;0.00682)								241				0.181347	61.69962	80.135066	35	158	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47490255	47490255	3558	19	G	T	T	36	36	CIC	T	3	3
MEGF8	1954	broad.mit.edu	36	19	47530200	47530200	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47530200G>A	uc002otl.2	+	c.553G>A	c.(553-555)GCC>ACC	p.A185T	MEGF8_uc002otm.2_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	185	Extracellular (Potential).|EGF-like 2.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.32	18.087662	18.809297	8	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47530200	47530200	9852	19	G	A	A	38	38	MEGF8	A	1	1
MEGF8	1954	broad.mit.edu	36	19	47532105	47532105	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47532105C>T	uc002otl.2	+	c.1011C>T	c.(1009-1011)CAC>CAT	p.H337H	MEGF8_uc002otm.2_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	337	Extracellular (Potential).|Kelch 2.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.37931	27.541255	27.902745	11	18	CC		KEEP	---	---	---	---	capture			Silent	SNP	47532105	47532105	9852	19	C	T	T	19	19	MEGF8	T	1	1
MEGF8	1954	broad.mit.edu	36	19	47548365	47548365	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47548365G>A	uc002otl.2	+	c.3066G>A	c.(3064-3066)GCG>GCA	p.A1022A	MEGF8_uc002otm.2_Silent_p.A630A	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1089	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.421053	21.295958	21.399381	8	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	47548365	47548365	9852	19	G	A	A	37	37	MEGF8	A	1	1
MEGF8	1954	broad.mit.edu	36	19	47552868	47552868	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47552868C>T	uc002otl.2	+	c.4524C>T	c.(4522-4524)CCC>CCT	p.P1508P	MEGF8_uc002otm.2_Silent_p.P1116P	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1575	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.210526	9.38947	10.862368	4	15	CC		KEEP	---	---	---	---	capture			Silent	SNP	47552868	47552868	9852	19	C	T	T	23	23	MEGF8	T	1	1
MEGF8	1954	broad.mit.edu	36	19	47553476	47553476	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47553476C>T	uc002otl.2	+	c.4710C>T	c.(4708-4710)GGC>GGT	p.G1570G	MEGF8_uc002otm.2_Silent_p.G1178G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1637	Extracellular (Potential).|Kelch 9.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.185714	44.089829	57.045005	26	114	CC		KEEP	---	---	---	---	capture			Silent	SNP	47553476	47553476	9852	19	C	T	T	27	27	MEGF8	T	1	1
LIPE	3991	broad.mit.edu	36	19	47604045	47604045	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47604045A>G	uc002otr.1	-	c.1579T>C	c.(1579-1581)TTT>CTT	p.F527L	LIPE_uc002ots.1_Missense_Mutation_p.F272L	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	527					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)												0.222222	89.729897	99.945462	32	112	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47604045	47604045	9148	19	A	G	G	2	2	LIPE	G	4	4
CEACAM1	634	broad.mit.edu	36	19	47723389	47723389	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47723389G>A	uc002otv.1	-	c.68C>T	c.(67-69)TCA>TTA	p.S23L	CEACAM1_uc002otw.1_Missense_Mutation_p.S23L|CEACAM1_uc010eij.1_Missense_Mutation_p.S23L|CEACAM1_uc002otx.1_Missense_Mutation_p.S23L|CEACAM1_uc002oty.1_Missense_Mutation_p.S23L|CEACAM1_uc002otz.1_Missense_Mutation_p.S23L|CEACAM1_uc010eik.1_Missense_Mutation_p.S23L|CEACAM1_uc002oua.1_Missense_Mutation_p.S23L|CEACAM1_uc002oub.1_Missense_Mutation_p.S23L|CEACAM1_uc002ouc.1_Missense_Mutation_p.S23L	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	23					angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)			Arcitumomab(DB00113)									0.185185	117.439745	150.089038	65	286	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(486;0.00148)	Missense_Mutation	SNP	47723389	47723389	3320	19	G	A	A	45	45	CEACAM1	A	2	2
CEACAM8	1088	broad.mit.edu	36	19	47789665	47789665	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47789665G>A	uc002oud.1	-	c.292C>T	c.(292-294)CGA>TGA	p.R98*		NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	98	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)												0.447479	605.069256	606.201425	213	263	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	47789665	47789665	3331	19	G	A	A	37	37	CEACAM8	A	5	1
PSG3	5671	broad.mit.edu	36	19	47925264	47925264	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47925264G>T	uc010eil.1	-	c.1160C>A	c.(1159-1161)TCT>TAT	p.S387Y	PSG3_uc002ouf.1_Intron|PSG1_uc002oug.1_Missense_Mutation_p.S365Y|PSG3_uc002oue.1_Missense_Mutation_p.S365Y	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	365	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.249489	262.256122	290.212807	122	367	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47925264	47925264	13109	19	G	T	T	33	33	PSG3	T	3	3
PSG3	5671	broad.mit.edu	36	19	47928910	47928910	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47928910C>A	uc010eil.1	-	c.641G>T	c.(640-642)AGC>ATC	p.S214I	PSG3_uc002ouf.1_Non-coding_Transcript|PSG1_uc002oug.1_Intron|PSG3_uc002oue.1_Missense_Mutation_p.S192I	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	192	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.213467	310.297407	363.254578	149	549	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47928910	47928910	13109	19	C	A	A	28	28	PSG3	A	3	3
PSG3	5671	broad.mit.edu	36	19	47934842	47934842	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47934842A>G	uc010eil.1	-	c.370T>C	c.(370-372)TAT>CAT	p.Y124H	PSG3_uc002ouf.1_Non-coding_Transcript|PSG1_uc002oug.1_Intron|PSG3_uc002oue.1_Missense_Mutation_p.Y102H	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	102	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.417351	1170.43933	1175.501738	356	497	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47934842	47934842	13109	19	A	G	G	16	16	PSG3	G	4	4
PLIN3	10226	broad.mit.edu	36	19	4803034	4803034	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4803034C>T	uc002mbj.1	-	c.628G>A	c.(628-630)GAA>AAA	p.E210K	PLIN3_uc002mbk.1_Missense_Mutation_p.E198K|PLIN3_uc002mbl.2_Missense_Mutation_p.E210K	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	210					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)							OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.410714	59.496628	59.890429	23	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4803034	4803034	12517	19	C	T	T	31	31	PLIN3	T	1	1
PSG6	5675	broad.mit.edu	36	19	48106801	48106801	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48106801C>T	uc002ovj.1	-	c.477G>A	c.(475-477)GAG>GAA	p.E159E	PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Silent_p.E160E|PSG3_uc002ouf.1_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG11_uc002ouw.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Silent_p.E159E|PSG6_uc002ovg.1_Silent_p.E159E|PSG6_uc002ovh.1_Silent_p.E166E|PSG11_uc002ovk.1_Intron	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	159	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)												0.213675	241.855034	277.287522	100	368	CC		KEEP	---	---	---	---	capture			Silent	SNP	48106801	48106801	13112	19	C	T	T	24	24	PSG6	T	2	2
PSG7	5676	broad.mit.edu	36	19	48122529	48122529	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48122529G>A	uc002ovl.2	-	c.889C>T	c.(889-891)CTA>TTA	p.L297L	PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG3_uc002ouf.1_Intron|PSG7_uc002ous.1_Non-coding_Transcript|PSG7_uc002out.1_Intron|PSG11_uc002ouw.1_Intron|PSG6_uc002ovh.1_Intron|PSG11_uc002ovk.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	297	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.236364	381.741723	423.694168	156	504	GG		KEEP	---	---	---	---	capture			Silent	SNP	48122529	48122529	13113	19	G	A	A	33	33	PSG7	A	2	2
PSG5	5673	broad.mit.edu	36	19	48381051	48381051	+	Silent	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48381051A>T	uc002ovv.1	-	c.153T>A	c.(151-153)GTT>GTA	p.V51V	PSG5_uc010eir.1_5'UTR|PSG5_uc002ovu.1_Silent_p.V51V|PSG5_uc002ovw.1_Silent_p.V51V|PSG5_uc002ovx.1_Silent_p.V51V	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	51	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00899)												0.221294	207.19974	241.569519	106	373	AA		KEEP	---	---	---	---	capture			Silent	SNP	48381051	48381051	13111	19	A	T	T	9	9	PSG5	T	4	4
PSG5	5673	broad.mit.edu	36	19	48381123	48381123	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48381123G>T	uc002ovv.1	-	c.81C>A	c.(79-81)TTC>TTA	p.F27L	PSG5_uc010eir.1_De_novo_Start_OutOfFrame|PSG5_uc002ovu.1_Missense_Mutation_p.F27L|PSG5_uc002ovw.1_Missense_Mutation_p.F27L|PSG5_uc002ovx.1_Missense_Mutation_p.F27L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	27					female pregnancy	extracellular region					0		Prostate(69;0.00899)												0.195946	101.85162	127.392803	58	238	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48381123	48381123	13111	19	G	T	T	33	33	PSG5	T	3	3
ARRDC5	645432	broad.mit.edu	36	19	4853821	4853821	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4853821G>A	uc002mbm.1	-	c.59C>T	c.(58-60)TCG>TTG	p.S20L		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	20					signal transduction						0														0.390845	299.153052	302.118155	111	173	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	Missense_Mutation	SNP	4853821	4853821	1004	19	G	A	A	37	37	ARRDC5	A	1	1
TEX101	83639	broad.mit.edu	36	19	48611925	48611925	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48611925G>A	uc002owk.1	+	c.68G>A	c.(67-69)CGT>CAT	p.R23H		NM_031451	NP_113639	Q9BY14	TX101_HUMAN	testis expressed 101 isoform 1	5						anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)												0.257143	324.622552	354.579591	144	416	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48611925	48611925	16300	19	G	A	A	40	40	TEX101	A	1	1
TEX101	83639	broad.mit.edu	36	19	48612385	48612385	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48612385G>A	uc002owk.1	+	c.283G>A	c.(283-285)GCC>ACC	p.A95T		NM_031451	NP_113639	Q9BY14	TX101_HUMAN	testis expressed 101 isoform 1	77						anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)												0.177474	99.244609	127.937148	52	241	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48612385	48612385	16300	19	G	A	A	42	42	TEX101	A	2	2
ETHE1	23474	broad.mit.edu	36	19	48702871	48702871	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48702871G>A	uc002owp.1	-	c.736C>T	c.(736-738)CGC>TGC	p.R246C	PHLDB3_uc002own.2_5'Flank|PHLDB3_uc002owo.2_5'Flank	NM_014297	NP_055112	O95571	ETHE1_HUMAN	ETHE1 protein	246						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding				0		Prostate(69;0.0153)												0.151724	31.566986	48.405017	22	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48702871	48702871	5465	19	G	A	A	38	38	ETHE1	A	1	1
UHRF1	29128	broad.mit.edu	36	19	4880257	4880257	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4880257C>T	uc002mbp.1	+	c.216C>T	c.(214-216)TTC>TTT	p.F72F	UHRF1_uc002mbo.1_Silent_p.F59F|UHRF1_uc010duf.1_Non-coding_Transcript	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	59	Ubiquitin-like.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.119266	23.806876	54.828889	26	192	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	Silent	SNP	4880257	4880257	17525	19	C	T	T	31	31	UHRF1	T	1	1
KCNN4	3783	broad.mit.edu	36	19	48965458	48965458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48965458C>T	uc002oxl.1	-	c.1025G>A	c.(1024-1026)CGC>CAC	p.R342H	KCNN4_uc010eiz.1_Silent_p.A234A	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	342	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)									0.455172	173.733229	173.98471	66	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48965458	48965458	8386	19	C	T	T	27	27	KCNN4	T	1	1
LYPD5	284348	broad.mit.edu	36	19	48994547	48994547	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48994547G>A	uc002oxm.2	-	c.417C>T	c.(415-417)ATC>ATT	p.I139I	LYPD5_uc002oxn.2_Silent_p.I96I	NM_001031749	NP_001026919	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5 isoform A	139	UPAR/Ly6.					anchored to membrane|plasma membrane					0		Prostate(69;0.0352)												0.222857	74.984481	87.40613	39	136	GG		KEEP	---	---	---	---	capture			Silent	SNP	48994547	48994547	9490	19	G	A	A	37	37	LYPD5	A	1	1
ZNF283	284349	broad.mit.edu	36	19	49043080	49043080	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49043080A>G	uc002oxr.2	+	c.487A>G	c.(487-489)ATA>GTA	p.I163V	ZNF283_uc002oxp.2_Missense_Mutation_p.I24V	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.38	52.51165	53.143533	19	31	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49043080	49043080	18412	19	A	G	G	8	8	ZNF283	G	4	4
ZNF283	284349	broad.mit.edu	36	19	49043525	49043525	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49043525A>C	uc002oxr.2	+	c.932A>C	c.(931-933)AAA>ACA	p.K311T	ZNF283_uc002oxp.2_Missense_Mutation_p.K172T	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	311	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.443609	195.213696	195.581035	59	74	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49043525	49043525	18412	19	A	C	C	1	1	ZNF283	C	4	4
ZNF283	284349	broad.mit.edu	36	19	49044213	49044213	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49044213G>T	uc002oxr.2	+	c.1620G>T	c.(1618-1620)GAG>GAT	p.E540D	ZNF283_uc002oxp.2_Missense_Mutation_p.E401D	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.282486	115.259353	122.793823	50	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49044213	49044213	18412	19	G	T	T	33	33	ZNF283	T	3	3
ZNF404	342908	broad.mit.edu	36	19	49068601	49068601	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49068601G>T	uc002oxs.2	-	c.1596C>A	c.(1594-1596)TGC>TGA	p.C532*		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	535	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.407407	60.435572	60.841181	22	32	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49068601	49068601	18479	19	G	T	T	34	34	ZNF404	T	5	3
ZNF404	342908	broad.mit.edu	36	19	49068681	49068681	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49068681G>A	uc002oxs.2	-	c.1516C>T	c.(1516-1518)CGA>TGA	p.R506*		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	509	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.136986	13.299004	22.612318	10	63	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49068681	49068681	18479	19	G	A	A	37	37	ZNF404	A	5	1
ZNF221	7638	broad.mit.edu	36	19	49162804	49162804	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49162804G>A	uc002oxx.2	+	c.1310G>A	c.(1309-1311)CGA>CAA	p.R437Q	ZNF221_uc010ejb.1_Missense_Mutation_p.R437Q	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	437	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.201389	58.490148	70.428708	29	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49162804	49162804	18366	19	G	A	A	37	37	ZNF221	A	1	1
ZNF230	7773	broad.mit.edu	36	19	49207325	49207325	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49207325C>T	uc002oyb.1	+	c.1294C>T	c.(1294-1296)CGG>TGG	p.R432W		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	432	C2H2-type 10; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				GBM(175;914 2069 22996 47111 52600)								0.531746	190.814443	190.924826	67	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49207325	49207325	18375	19	C	T	T	23	23	ZNF230	T	1	1
ZNF222	7673	broad.mit.edu	36	19	49227956	49227956	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49227956G>T	uc002oye.1	+	c.409G>T	c.(409-411)GAT>TAT	p.D137Y	ZNF284_uc010ejd.1_Intron|ZNF222_uc002oyc.1_Missense_Mutation_p.D97Y|ZNF222_uc002oyd.1_Missense_Mutation_p.D43Y	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN	zinc finger protein 222 isoform 2	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Prostate(69;0.0435)												0.190722	66.046199	83.410746	37	157	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49227956	49227956	18367	19	G	T	T	33	33	ZNF222	T	3	3
ZNF223	7766	broad.mit.edu	36	19	49262932	49262932	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49262932C>A	uc002oyf.1	+	c.1111C>A	c.(1111-1113)CCA>ACA	p.P371T	ZNF284_uc010ejd.1_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.227027	92.247521	104.907305	42	143	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49262932	49262932	18368	19	C	A	A	26	26	ZNF223	A	3	3
ZNF284	342909	broad.mit.edu	36	19	49282139	49282139	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49282139G>T	uc002oyg.1	+	c.668G>T	c.(667-669)AGA>ATA	p.R223I	ZNF284_uc010ejd.1_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	223	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)												0.184211	48.195821	62.432799	28	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49282139	49282139	18413	19	G	T	T	33	33	ZNF284	T	3	3
ZNF224	7767	broad.mit.edu	36	19	49303812	49303812	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49303812G>A	uc002oyh.1	+	c.1659G>A	c.(1657-1659)TCG>TCA	p.S553S		NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	553	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|transcription repressor activity|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)												0.429379	198.011001	198.79074	76	101	GG		KEEP	---	---	---	---	capture			Silent	SNP	49303812	49303812	18369	19	G	A	A	40	40	ZNF224	A	1	1
ZNF224	7767	broad.mit.edu	36	19	49304014	49304014	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49304014G>A	uc002oyh.1	+	c.1861G>A	c.(1861-1863)GAA>AAA	p.E621K		NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|transcription repressor activity|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)												0.382353	146.361754	148.014139	52	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49304014	49304014	18369	19	G	A	A	33	33	ZNF224	A	2	2
ZNF225	7768	broad.mit.edu	36	19	49327462	49327462	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49327462G>T	uc002oyj.1	+	c.855G>T	c.(853-855)GAG>GAT	p.E285D	ZNF225_uc010eje.1_Missense_Mutation_p.E202D|ZNF225_uc010ejf.1_Missense_Mutation_p.E285D	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)												0.195531	64.063817	79.507957	35	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49327462	49327462	18370	19	G	T	T	33	33	ZNF225	T	3	3
ZNF234	10780	broad.mit.edu	36	19	49352290	49352290	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49352290G>A	uc002oyl.2	+	c.281G>A	c.(280-282)CGA>CAA	p.R94Q	ZNF234_uc002oym.1_Missense_Mutation_p.R94Q	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	94	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)												0.189723	93.845052	116.633004	48	205	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49352290	49352290	18378	19	G	A	A	37	37	ZNF234	A	1	1
ZNF234	10780	broad.mit.edu	36	19	49352884	49352884	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49352884C>T	uc002oyl.2	+	c.875C>T	c.(874-876)ACA>ATA	p.T292I	ZNF234_uc002oym.1_Missense_Mutation_p.T292I	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	292	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)												0.188732	120.287934	152.507109	67	288	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49352884	49352884	18378	19	C	T	T	17	17	ZNF234	T	2	2
ZNF234	10780	broad.mit.edu	36	19	49353652	49353652	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49353652G>A	uc002oyl.2	+	c.1643G>A	c.(1642-1644)AGC>AAC	p.S548N	ZNF234_uc002oym.1_Missense_Mutation_p.S548N	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	548	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)												0.165775	52.008716	71.831462	31	156	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49353652	49353652	18378	19	G	A	A	34	34	ZNF234	A	2	2
ZNF234	10780	broad.mit.edu	36	19	49353839	49353839	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49353839T>C	uc002oyl.2	+	c.1830T>C	c.(1828-1830)AGT>AGC	p.S610S	ZNF234_uc002oym.1_Silent_p.S610S	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	610	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)												0.177686	97.212374	120.860444	43	199	TT		KEEP	---	---	---	---	capture			Silent	SNP	49353839	49353839	18378	19	T	C	C	58	58	ZNF234	C	4	4
ZNF226	7769	broad.mit.edu	36	19	49372676	49372676	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49372676C>A	uc002oyp.1	+	c.1421C>A	c.(1420-1422)TCA>TAA	p.S474*	ZNF226_uc002oyq.2_Nonsense_Mutation_p.S357*|ZNF226_uc002oyr.2_Nonsense_Mutation_p.S357*|ZNF226_uc002oys.1_Nonsense_Mutation_p.S474*|ZNF226_uc002oyt.1_Nonsense_Mutation_p.S474*	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				Pancreas(115;581 1665 13228 19278 50070)								0.222222	61.767507	71.361377	30	105	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49372676	49372676	18371	19	C	A	A	29	29	ZNF226	A	5	3
ZNF227	7770	broad.mit.edu	36	19	49424524	49424524	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49424524G>A	uc002oyu.1	+	c.146G>A	c.(145-147)CGA>CAA	p.R49Q	ZNF227_uc002oyv.1_Missense_Mutation_p.R49Q|ZNF227_uc002oyw.1_Missense_Mutation_p.R49Q|ZNF227_uc010ejh.1_Missense_Mutation_p.R49Q|ZNF235_uc002oyx.1_Non-coding_Transcript	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)												0.226708	159.809835	181.890562	73	249	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49424524	49424524	18372	19	G	A	A	37	37	ZNF227	A	1	1
ZNF227	7770	broad.mit.edu	36	19	49432617	49432617	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49432617C>T	uc002oyu.1	+	c.2194C>T	c.(2194-2196)CGA>TGA	p.R732*	ZNF227_uc002oyv.1_Nonsense_Mutation_p.R732*|ZNF227_uc002oyw.1_Nonsense_Mutation_p.R704*|ZNF227_uc010ejh.1_Nonsense_Mutation_p.R725*|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.1_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	732	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)												0.155642	62.317298	91.460016	40	217	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49432617	49432617	18372	19	C	T	T	31	31	ZNF227	T	5	1
ZNF233	353355	broad.mit.edu	36	19	49470304	49470304	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49470304C>T	uc002oyz.1	+	c.1651C>T	c.(1651-1653)CTC>TTC	p.L551F	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.1_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.L366F	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	551	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)|all_neural(266;0.226)												0.37415	157.990449	160.033776	55	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49470304	49470304	18377	19	C	T	T	32	32	ZNF233	T	2	2
ZFP112	7771	broad.mit.edu	36	19	49536532	49536532	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49536532C>A	uc010ejj.1	-	c.18G>T	c.(16-18)GAG>GAT	p.E6D	ZFP112_uc002ozc.2_5'UTR	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3						Melanoma(53;975 1202 7512 15993 27273)								0.161512	72.718045	104.463696	47	244	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49536532	49536532	18226	19	C	A	A	32	32	ZFP112	A	3	3
ZNF285	26974	broad.mit.edu	36	19	49583714	49583714	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49583714C>T	uc002ozd.2	-	c.533G>A	c.(532-534)CGT>CAT	p.R178H		NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.119601	34.088259	76.8436	36	265	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49583714	49583714	18414	19	C	T	T	19	19	ZNF285	T	1	1
ZNF285	26974	broad.mit.edu	36	19	49588429	49588429	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49588429C>A	uc002ozd.2	-	c.57G>T	c.(55-57)AAG>AAT	p.K19N		NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.194444	50.011968	62.564197	28	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49588429	49588429	18414	19	C	A	A	24	24	ZNF285	A	3	3
ZNF229	7772	broad.mit.edu	36	19	49624842	49624842	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49624842C>A	uc002oze.1	-	c.1954G>T	c.(1954-1956)GGC>TGC	p.G652C	ZNF229_uc010ejk.1_Missense_Mutation_p.G306C|ZNF229_uc010ejl.1_Missense_Mutation_p.G646C	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0352)												0.176309	108.843066	144.739328	64	299	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49624842	49624842	18373	19	C	A	A	24	24	ZNF229	A	3	3
ZNF229	7772	broad.mit.edu	36	19	49625186	49625186	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49625186C>A	uc002oze.1	-	c.1610G>T	c.(1609-1611)AGA>ATA	p.R537I	ZNF229_uc010ejk.1_Missense_Mutation_p.R191I|ZNF229_uc010ejl.1_Missense_Mutation_p.R531I	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	537	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0352)												0.145729	36.62585	60.669959	29	170	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49625186	49625186	18373	19	C	A	A	32	32	ZNF229	A	3	3
ZNF229	7772	broad.mit.edu	36	19	49625336	49625336	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49625336C>A	uc002oze.1	-	c.1460G>T	c.(1459-1461)AGG>ATG	p.R487M	ZNF229_uc010ejk.1_Missense_Mutation_p.R141M|ZNF229_uc010ejl.1_Missense_Mutation_p.R481M	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0352)												0.190698	70.226574	89.428293	41	174	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49625336	49625336	18373	19	C	A	A	24	24	ZNF229	A	3	3
ZNF229	7772	broad.mit.edu	36	19	49626057	49626057	+	Nonsense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49626057T>A	uc002oze.1	-	c.739A>T	c.(739-741)AAA>TAA	p.K247*	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Nonsense_Mutation_p.K241*	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0352)												0.429043	347.993173	349.323713	130	173	TT		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49626057	49626057	18373	19	T	A	A	64	64	ZNF229	A	5	4
ZNF180	7733	broad.mit.edu	36	19	49672721	49672721	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49672721T>G	uc002ozf.2	-	c.1817A>C	c.(1816-1818)GAA>GCA	p.E606A	ZNF180_uc002ozh.2_Missense_Mutation_p.E263A|ZNF180_uc002ozi.2_Missense_Mutation_p.E579A|ZNF180_uc002ozg.2_Missense_Mutation_p.E605A|ZNF180_uc010ejm.1_Missense_Mutation_p.E581A	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	606	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				Esophageal Squamous(180;1353 2003 32862 46574 49854)								0.446203	479.15831	479.9511	141	175	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49672721	49672721	18339	19	T	G	G	62	62	ZNF180	G	4	4
CEACAM20	125931	broad.mit.edu	36	19	49707028	49707028	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49707028C>A	uc010ejn.1	-	c.1637G>T	c.(1636-1638)AGA>ATA	p.R546I	CEACAM20_uc010ejo.1_Missense_Mutation_p.R534I|CEACAM20_uc010ejp.1_Missense_Mutation_p.R453I|CEACAM20_uc010ejq.1_Missense_Mutation_p.R441I	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	546	Cytoplasmic (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)												0.221374	54.49313	63.868301	29	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49707028	49707028	3324	19	C	A	A	32	32	CEACAM20	A	3	3
PVR	5817	broad.mit.edu	36	19	49842482	49842482	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49842482C>T	uc002ozm.1	+	c.227C>T	c.(226-228)GCC>GTC	p.A76V	PVR_uc010ejs.1_Missense_Mutation_p.A76V|PVR_uc002ozn.1_Missense_Mutation_p.A21V	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	76	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)												0.204082	18.233464	22.209761	10	39	CC		KEEP	---	---	---	---	capture		Epithelial(262;0.000601)	Missense_Mutation	SNP	49842482	49842482	13295	19	C	T	T	26	26	PVR	T	2	2
PVR	5817	broad.mit.edu	36	19	49842588	49842588	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49842588C>T	uc002ozm.1	+	c.333C>T	c.(331-333)TTC>TTT	p.F111F	PVR_uc010ejs.1_Silent_p.F111F|PVR_uc002ozn.1_Silent_p.F56F	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	111	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)												0.159091	10.601412	15.471787	7	37	CC		KEEP	---	---	---	---	capture		Epithelial(262;0.000601)	Silent	SNP	49842588	49842588	13295	19	C	T	T	31	31	PVR	T	1	1
PVR	5817	broad.mit.edu	36	19	49853930	49853930	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49853930C>A	uc002ozm.1	+	c.1072C>A	c.(1072-1074)CTG>ATG	p.L358M	PVR_uc010ejs.1_Missense_Mutation_p.L358M|PVR_uc002ozn.1_Missense_Mutation_p.L303M	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	358	Helical; (Potential).				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)												0.179487	111.588654	145.538145	63	288	CC		KEEP	---	---	---	---	capture		Epithelial(262;0.000601)	Missense_Mutation	SNP	49853930	49853930	13295	19	C	A	A	24	24	PVR	A	3	3
CEACAM19	56971	broad.mit.edu	36	19	49867949	49867949	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49867949C>T	uc002ozo.2	+	c.297C>T	c.(295-297)ATC>ATT	p.I99I	CEACAM19_uc002ozp.2_Silent_p.I99I	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion	99	Extracellular (Potential).					integral to membrane					0	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)												0.203704	43.387887	52.193642	22	86	CC		KEEP	---	---	---	---	capture			Silent	SNP	49867949	49867949	3323	19	C	T	T	31	31	CEACAM19	T	1	1
CEACAM16	388551	broad.mit.edu	36	19	49898555	49898555	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49898555C>T	uc002ozq.1	+	c.311C>T	c.(310-312)TCG>TTG	p.S104L		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	45										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)												0.48913	126.365799	126.375317	45	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49898555	49898555	3321	19	C	T	T	31	31	CEACAM16	T	1	1
CBLC	23624	broad.mit.edu	36	19	49976125	49976125	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49976125C>T	uc002ozs.1	+	c.477C>T	c.(475-477)TTC>TTT	p.F159F	CBLC_uc010ejt.1_Silent_p.F159F	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	159	EF-hand-like.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)												0.145161	25.537753	40.618643	18	106	CC		KEEP	---	---	---	---	capture			Silent	SNP	49976125	49976125	2821	19	C	T	T	32	32	CBLC	T	2	2
CBLC	23624	broad.mit.edu	36	19	49987582	49987582	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49987582C>A	uc002ozs.1	+	c.1108C>A	c.(1108-1110)CTC>ATC	p.L370I	CBLC_uc010ejt.1_Missense_Mutation_p.L324I	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	370	RING-type.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)												0.188235	59.686357	75.19732	32	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49987582	49987582	2821	19	C	A	A	28	28	CBLC	A	3	3
BCAM	4059	broad.mit.edu	36	19	50008349	50008349	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50008349C>T	uc002ozu.1	+	c.507C>T	c.(505-507)ATC>ATT	p.I169I	BCAM_uc002ozt.1_Silent_p.I169I	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	169	Extracellular (Potential).|Ig-like V-type 2.				cell-matrix adhesion	external side of plasma membrane|integral to plasma membrane	laminin binding|laminin receptor activity				0	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)												0.421875	147.526626	148.208104	54	74	CC		KEEP	---	---	---	---	capture			Silent	SNP	50008349	50008349	1365	19	C	T	T	31	31	BCAM	T	1	1
BCAM	4059	broad.mit.edu	36	19	50014761	50014761	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50014761C>A	uc002ozu.1	+	c.1701C>A	c.(1699-1701)GTC>GTA	p.V567V	BCAM_uc002ozt.1_Silent_p.V567V	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	567	Helical; (Potential).				cell-matrix adhesion	external side of plasma membrane|integral to plasma membrane	laminin binding|laminin receptor activity				0	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)												0.169231	16.478236	23.219237	11	54	CC		KEEP	---	---	---	---	capture			Silent	SNP	50014761	50014761	1365	19	C	A	A	32	32	BCAM	A	3	3
PVRL2	5819	broad.mit.edu	36	19	50060594	50060594	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50060594C>T	uc002ozw.1	+	c.315C>T	c.(313-315)TTC>TTT	p.F105F	PVRL2_uc002ozv.1_Silent_p.F105F	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	105	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|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|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)												0.419355	30.641264	30.822569	13	18	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	Silent	SNP	50060594	50060594	13298	19	C	T	T	31	31	PVRL2	T	1	1
PVRL2	5819	broad.mit.edu	36	19	50069127	50069127	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50069127G>T	uc002ozw.1	+	c.890G>T	c.(889-891)AGC>ATC	p.S297I	PVRL2_uc002ozv.1_Missense_Mutation_p.S297I	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	297	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|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|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)												0.245763	69.019181	75.963495	29	89	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	Missense_Mutation	SNP	50069127	50069127	13298	19	G	T	T	34	34	PVRL2	T	3	3
APOE	348	broad.mit.edu	36	19	50103743	50103743	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50103743C>T	uc002pab.1	+	c.350C>T	c.(349-351)GCG>GTG	p.A117V		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	117	8 X 22 AA approximate tandem repeats.|2.				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)			Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)									0.25	6.820504	7.501525	3	9	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Missense_Mutation	SNP	50103743	50103743	813	19	C	T	T	27	27	APOE	T	1	1
CLPTM1	1209	broad.mit.edu	36	19	50169562	50169562	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50169562C>T	uc002pai.1	+	c.336C>T	c.(334-336)CAC>CAT	p.H112H	CLPTM1_uc010ejv.1_Silent_p.H10H	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	112	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)								199				0.179487	36.936284	48.222025	21	96	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	Silent	SNP	50169562	50169562	3692	19	C	T	T	19	19	CLPTM1	T	1	1
CLPTM1	1209	broad.mit.edu	36	19	50183213	50183213	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50183213G>A	uc002pai.1	+	c.1074G>A	c.(1072-1074)GCG>GCA	p.A358A		NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	358	Helical; (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)								199				0.238372	170.081279	191.540378	82	262	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	Silent	SNP	50183213	50183213	3692	19	G	A	A	38	38	CLPTM1	A	1	1
RELB	5971	broad.mit.edu	36	19	50227841	50227841	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50227841G>A	uc002paj.1	+	c.1201G>A	c.(1201-1203)GAC>AAC	p.D401N		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	401	RHD.				regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)												0.4	26.339398	26.559452	10	15	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	Missense_Mutation	SNP	50227841	50227841	13686	19	G	A	A	37	37	RELB	A	1	1
ZNF296	162979	broad.mit.edu	36	19	50270920	50270920	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50270920G>T	uc002pao.1	-	c.339C>A	c.(337-339)ACC>ACA	p.T113T		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	113					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.248731	103.56839	114.893586	49	148	GG		KEEP	---	---	---	---	capture			Silent	SNP	50270920	50270920	18420	19	G	T	T	35	35	ZNF296	T	3	3
MARK4	57787	broad.mit.edu	36	19	50489491	50489491	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50489491T>G	uc002pba.1	+	c.1539T>G	c.(1537-1539)GTT>GTG	p.V513V	MARK4_uc002pbb.1_Silent_p.V513V	NM_031417	NP_113605	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	513					microtubule bundle formation|nervous system development|positive regulation of programmed cell death|protein phosphorylation	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)								167				0.223529	102.076045	114.009559	38	132	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	Silent	SNP	50489491	50489491	9698	19	T	G	G	64	64	MARK4	G	4	4
KLC3	147700	broad.mit.edu	36	19	50543966	50543966	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50543966C>T	uc002pbg.1	+	c.958C>T	c.(958-960)CGT>TGT	p.R320C	KLC3_uc002pbf.1_Missense_Mutation_p.R306C|KLC3_uc010ejy.1_Missense_Mutation_p.R305C	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	306	TPR 3.					cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)								4				0.444444	21.395939	21.44454	8	10	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	Missense_Mutation	SNP	50543966	50543966	8647	19	C	T	T	27	27	KLC3	T	1	1
ERCC2	2068	broad.mit.edu	36	19	50556671	50556671	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50556671C>T	uc002pbj.1	-	c.1188G>A	c.(1186-1188)CCG>CCA	p.P396P	ERCC2_uc002pbh.1_5'Flank|ERCC2_uc002pbi.1_Silent_p.P89P|ERCC2_uc010ejz.1_Silent_p.P318P|ERCC2_uc002pbk.1_Silent_p.P372P|ERCC2_uc002pbl.2_Silent_p.P372P	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	396					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(1)|pancreas(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)								447				0.405405	116.7423	117.612672	45	66	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	Silent	SNP	50556671	50556671	5406	19	C	T	T	27	27	ERCC2	T	1	1
PPP1R13L	10848	broad.mit.edu	36	19	50587281	50587281	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50587281C>T	uc002pbn.1	-	c.1512G>A	c.(1510-1512)GTG>GTA	p.V504V	PPP1R13L_uc002pbo.1_Silent_p.V504V|PPP1R13L_uc002pbm.1_Silent_p.V83V	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	504	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding				0		all_neural(266;0.224)|Ovarian(192;0.231)				Pancreas(61;1447 1663 31419 50578)								0.532468	108.434536	108.502449	41	36	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	Silent	SNP	50587281	50587281	12793	19	C	T	T	25	25	PPP1R13L	T	2	2
ERCC1	2067	broad.mit.edu	36	19	50614227	50614227	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50614227G>A	uc002pbv.1	-	c.494C>T	c.(493-495)GCC>GTC	p.A165V	ERCC1_uc002pbs.1_Missense_Mutation_p.A165V|ERCC1_uc002pbt.1_Missense_Mutation_p.A165V|ERCC1_uc002pbu.1_Missense_Mutation_p.A93V	NM_202001	NP_973730	P07992	ERCC1_HUMAN	excision repair cross-complementing 1 isoform 1	165					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding				0		Ovarian(192;0.051)|all_neural(266;0.112)												0.32	20.690248	21.410444	8	17	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	Missense_Mutation	SNP	50614227	50614227	5405	19	G	A	A	42	42	ERCC1	A	2	2
ERCC1	2067	broad.mit.edu	36	19	50618381	50618381	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50618381A>G	uc002pbv.1	-	c.92T>C	c.(91-93)GTC>GCC	p.V31A	ERCC1_uc002pbs.1_Missense_Mutation_p.V31A|ERCC1_uc002pbt.1_Missense_Mutation_p.V31A|ERCC1_uc002pbu.1_Missense_Mutation_p.V31A	NM_202001	NP_973730	P07992	ERCC1_HUMAN	excision repair cross-complementing 1 isoform 1	31					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding				0		Ovarian(192;0.051)|all_neural(266;0.112)												0.301887	48.485912	50.33969	16	37	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	Missense_Mutation	SNP	50618381	50618381	5405	19	A	G	G	10	10	ERCC1	G	4	4
FOSB	2354	broad.mit.edu	36	19	50666007	50666007	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50666007G>A	uc002pbx.2	+	c.407G>A	c.(406-408)CGC>CAC	p.R136H	ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.R136H|FOSB_uc010eka.1_Missense_Mutation_p.R97H|FOSB_uc010ekb.1_Missense_Mutation_p.R136H|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.R136H|FOSB_uc010eke.1_Missense_Mutation_p.R97H|FOSB_uc002pby.2_Missense_Mutation_p.R136H|FOSB_uc010ekf.1_Missense_Mutation_p.R97H|FOSB_uc010ekg.1_Intron|FOSB_uc002pca.2_Missense_Mutation_p.R87H	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	136					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)	2		Ovarian(192;0.051)|all_neural(266;0.112)												0.219697	53.223193	62.771438	29	103	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	Missense_Mutation	SNP	50666007	50666007	6228	19	G	A	A	38	38	FOSB	A	1	1
FOSB	2354	broad.mit.edu	36	19	50668071	50668071	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50668071T>G	uc002pbx.2	+	c.978T>G	c.(976-978)CCT>CCG	p.P326P	ERCC1_uc002pbu.1_Intron|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekd.1_3'UTR|FOSB_uc010eke.1_Silent_p.P251P|FOSB_uc002pby.2_Silent_p.P290P|FOSB_uc010ekf.1_Silent_p.P287P|FOSB_uc010ekg.1_Silent_p.P183P|FOSB_uc002pca.2_Silent_p.P277P	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	326					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)	2		Ovarian(192;0.051)|all_neural(266;0.112)												0.34657	267.905318	273.666724	96	181	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	Silent	SNP	50668071	50668071	6228	19	T	G	G	56	56	FOSB	G	4	4
RTN2	6253	broad.mit.edu	36	19	50689639	50689639	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50689639C>A	uc002pcb.1	-	c.544G>T	c.(544-546)GGA>TGA	p.G182*	RTN2_uc002pcc.1_Nonsense_Mutation_p.G182*|RTN2_uc002pcd.1_Non-coding_Transcript|PPM1N_uc010ekh.1_5'Flank	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	182						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)												0.450331	375.435023	376.087331	136	166	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	Nonsense_Mutation	SNP	50689639	50689639	14206	19	C	A	A	24	24	RTN2	A	5	3
RTN2	6253	broad.mit.edu	36	19	50689860	50689860	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50689860C>A	uc002pcb.1	-	c.323G>T	c.(322-324)AGC>ATC	p.S108I	RTN2_uc002pcc.1_Missense_Mutation_p.S108I|RTN2_uc002pcd.1_Non-coding_Transcript|PPM1N_uc010ekh.1_5'Flank	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	108						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)												0.472868	158.835165	158.919157	61	68	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	Missense_Mutation	SNP	50689860	50689860	14206	19	C	A	A	28	28	RTN2	A	3	3
RTN2	6253	broad.mit.edu	36	19	50690092	50690092	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50690092C>T	uc002pcb.1	-	c.91G>A	c.(91-93)GAC>AAC	p.D31N	RTN2_uc002pcc.1_Missense_Mutation_p.D31N|RTN2_uc002pcd.1_Non-coding_Transcript|PPM1N_uc010ekh.1_5'Flank	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	31						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)												0.210784	88.117661	103.901613	43	161	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	Missense_Mutation	SNP	50690092	50690092	14206	19	C	T	T	31	31	RTN2	T	1	1
PPM1N	147699	broad.mit.edu	36	19	50694479	50694479	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50694479C>A	uc002pce.1	+	c.909C>A	c.(907-909)TGC>TGA	p.C303*	RTN2_uc002pcb.1_5'Flank|RTN2_uc002pcc.1_5'Flank|RTN2_uc002pcd.1_5'Flank|PPM1N_uc010ekh.1_Intron|PPM1N_uc002pcf.1_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	hypothetical protein LOC147699	303	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity				0														0.378151	135.753133	137.300746	45	74	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	50694479	50694479	12781	19	C	A	A	27	27	PPM1N	A	5	3
VASP	7408	broad.mit.edu	36	19	50719214	50719214	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50719214G>T	uc002pcg.1	+	c.930G>T	c.(928-930)TGG>TGT	p.W310C	VASP_uc010eki.1_Missense_Mutation_p.W144C|VASP_uc002pci.1_Missense_Mutation_p.W296C	NM_003370	NP_003361	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	310	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding				0		Ovarian(192;0.051)|all_neural(266;0.112)										OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.147826	24.610712	38.299444	17	98	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	Missense_Mutation	SNP	50719214	50719214	17693	19	G	T	T	43	43	VASP	T	3	3
OPA3	80207	broad.mit.edu	36	19	50724391	50724391	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50724391C>T	uc002pcj.2	-	c.306G>A	c.(304-306)TGG>TGA	p.W102*		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform a	102					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)												0.204545	66.313456	80.568232	36	140	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	Nonsense_Mutation	SNP	50724391	50724391	11278	19	C	T	T	26	26	OPA3	T	5	2
GIPR	2696	broad.mit.edu	36	19	50869216	50869216	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50869216C>T	uc002pcu.1	+	c.429C>T	c.(427-429)GTC>GTT	p.V143V	GIPR_uc002pct.1_Silent_p.V143V	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	143	Helical; Name=1; (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane					0		Ovarian(192;0.051)|all_neural(266;0.112)												0.435294	506.096269	507.648218	185	240	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	Silent	SNP	50869216	50869216	6663	19	C	T	T	31	31	GIPR	T	1	1
GIPR	2696	broad.mit.edu	36	19	50873031	50873031	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50873031C>A	uc002pcu.1	+	c.952C>A	c.(952-954)CTT>ATT	p.L318I	GIPR_uc002pct.1_Missense_Mutation_p.L318I	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	318	Helical; Name=5; (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane					0		Ovarian(192;0.051)|all_neural(266;0.112)												0.159509	35.830587	53.858052	26	137	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	Missense_Mutation	SNP	50873031	50873031	6663	19	C	A	A	32	32	GIPR	A	3	3
FBXO46	23403	broad.mit.edu	36	19	50906886	50906886	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50906886C>T	uc002pcy.1	-	c.1708G>A	c.(1708-1710)GAC>AAC	p.D570N	QPCTL_uc002pcx.1_Intron|FBXO46_uc002pcz.1_Missense_Mutation_p.D570N	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	570							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)												0.166667	7.219492	11.027926	6	30	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	Missense_Mutation	SNP	50906886	50906886	5992	19	C	T	T	31	31	FBXO46	T	1	1
KDM4B	23030	broad.mit.edu	36	19	5095150	5095150	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5095150C>T	uc002mbq.2	+	c.2723C>T	c.(2722-2724)TCG>TTG	p.S908L	KDM4B_uc002mbr.2_Missense_Mutation_p.S666L	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	908					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1														0.180645	43.603524	58.503451	28	127	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5095150	5095150	8435	19	C	T	T	31	31	KDM4B	T	1	1
SIX5	147912	broad.mit.edu	36	19	50960607	50960607	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50960607C>A	uc002pdb.1	-	c.2212G>T	c.(2212-2214)GAA>TAA	p.E738*	SIX5_uc002pdc.1_3'UTR	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	sine oculis homeobox homolog 5	738					regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)												0.48301	527.318337	527.423438	199	213	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	Nonsense_Mutation	SNP	50960607	50960607	14845	19	C	A	A	30	30	SIX5	A	5	3
SIX5	147912	broad.mit.edu	36	19	50962058	50962058	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50962058G>A	uc002pdb.1	-	c.999C>T	c.(997-999)TCC>TCT	p.S333S	SIX5_uc002pdc.1_Intron	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	sine oculis homeobox homolog 5	333					regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)												0.272727	15.34842	16.367648	6	16	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	Silent	SNP	50962058	50962058	14845	19	G	A	A	43	43	SIX5	A	2	2
DMPK	1760	broad.mit.edu	36	19	50966462	50966462	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50966462C>T	uc002pdi.1	-	c.1711G>A	c.(1711-1713)GAT>AAT	p.D571N	SIX5_uc002pdb.1_5'Flank|SIX5_uc002pdc.1_5'Flank|DMPK_uc002pdd.1_Missense_Mutation_p.D555N|DMPK_uc002pde.1_Missense_Mutation_p.D550N|DMPK_uc002pdf.1_Missense_Mutation_p.D545N|DMPK_uc002pdg.1_Missense_Mutation_p.D540N|DMPK_uc002pdh.1_Missense_Mutation_p.D540N	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	555					protein phosphorylation|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)				Esophageal Squamous(35;307 869 9153 24033 28903)				152				0.294737	66.881101	70.454116	28	67	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	Missense_Mutation	SNP	50966462	50966462	4764	19	C	T	T	30	30	DMPK	T	2	2
DMPK	1760	broad.mit.edu	36	19	50966754	50966754	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50966754G>A	uc002pdi.1	-	c.1590C>T	c.(1588-1590)CGC>CGT	p.R530R	SIX5_uc002pdb.1_5'Flank|SIX5_uc002pdc.1_5'Flank|DMPK_uc002pdd.1_Silent_p.R514R|DMPK_uc002pde.1_Silent_p.R509R|DMPK_uc002pdf.1_Silent_p.R504R|DMPK_uc002pdg.1_Silent_p.R499R|DMPK_uc002pdh.1_Silent_p.R499R	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	514					protein phosphorylation|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)				Esophageal Squamous(35;307 869 9153 24033 28903)				152				0.253731	37.443279	41.132538	17	50	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	Silent	SNP	50966754	50966754	4764	19	G	A	A	38	38	DMPK	A	1	1
SYMPK	8189	broad.mit.edu	36	19	51012040	51012040	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51012040G>T	uc002pdn.1	-	c.3114C>A	c.(3112-3114)TTC>TTA	p.F1038L	RSPH6A_uc002pdm.1_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	1038					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)										OREG0025562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.363636	10.498141	10.677589	4	7	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	Missense_Mutation	SNP	51012040	51012040	15960	19	G	T	T	45	45	SYMPK	T	3	3
SYMPK	8189	broad.mit.edu	36	19	51018532	51018532	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51018532G>A	uc002pdn.1	-	c.2638C>T	c.(2638-2640)CTC>TTC	p.L880F	SYMPK_uc002pdo.1_Missense_Mutation_p.L880F|SYMPK_uc002pdp.1_Missense_Mutation_p.L880F	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	880					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)												0.223776	70.124727	80.156302	32	111	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	Missense_Mutation	SNP	51018532	51018532	15960	19	G	A	A	33	33	SYMPK	A	2	2
SYMPK	8189	broad.mit.edu	36	19	51021329	51021329	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51021329T>C	uc002pdn.1	-	c.2324A>G	c.(2323-2325)GAC>GGC	p.D775G	SYMPK_uc002pdo.1_Missense_Mutation_p.D775G|SYMPK_uc002pdp.1_Missense_Mutation_p.D775G	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	775					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)												0.541667	86.127126	86.19771	26	22	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	Missense_Mutation	SNP	51021329	51021329	15960	19	T	C	C	58	58	SYMPK	C	4	4
IRF2BP1	26145	broad.mit.edu	36	19	51080044	51080044	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51080044C>T	uc002pds.1	-	c.829G>A	c.(829-831)GAA>AAA	p.E277K		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)												0.184	40.782295	52.476522	23	102	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	Missense_Mutation	SNP	51080044	51080044	8132	19	C	T	T	31	31	IRF2BP1	T	1	1
IRF2BP1	26145	broad.mit.edu	36	19	51080102	51080102	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51080102G>A	uc002pds.1	-	c.771C>T	c.(769-771)TTC>TTT	p.F257F		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)												0.440678	140.842722	141.191873	52	66	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	Silent	SNP	51080102	51080102	8132	19	G	A	A	37	37	IRF2BP1	A	1	1
IRF2BP1	26145	broad.mit.edu	36	19	51080361	51080361	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51080361A>G	uc002pds.1	-	c.512T>C	c.(511-513)GTG>GCG	p.V171A		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)												0.457831	109.922412	110.051861	38	45	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	Missense_Mutation	SNP	51080361	51080361	8132	19	A	G	G	6	6	IRF2BP1	G	4	4
PGLYRP1	8993	broad.mit.edu	36	19	51214465	51214465	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51214465G>A	uc002pdx.1	-	c.462C>T	c.(460-462)TGC>TGT	p.C154C		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	154					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)												0.278261	75.561525	80.642549	32	83	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	Silent	SNP	51214465	51214465	12216	19	G	A	A	38	38	PGLYRP1	A	1	1
IGFL1	374918	broad.mit.edu	36	19	51425397	51425397	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51425397C>A	uc002pee.1	+	c.106C>A	c.(106-108)CTG>ATG	p.L36M		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	36						extracellular space					0		Ovarian(192;0.0731)|all_neural(266;0.196)												0.220994	82.443878	95.39133	40	141	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)	Missense_Mutation	SNP	51425397	51425397	7887	19	C	A	A	28	28	IGFL1	A	3	3
HIF3A	64344	broad.mit.edu	36	19	51507297	51507297	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51507297C>T	uc002peh.1	+	c.810C>T	c.(808-810)ATC>ATT	p.I270I	HIF3A_uc002peg.2_Silent_p.I270I|HIF3A_uc002pei.2_Silent_p.I214I|HIF3A_uc002pej.1_Silent_p.I201I|HIF3A_uc002pek.1_Silent_p.I214I|HIF3A_uc002pel.1_Silent_p.I268I|HIF3A_uc002pef.1_Silent_p.I270I	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	270	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			central_nervous_system(1)|skin(1)	2		Ovarian(192;0.00965)|all_neural(266;0.0887)												0.169492	82.489795	112.983151	50	245	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	Silent	SNP	51507297	51507297	7390	19	C	T	T	31	31	HIF3A	T	1	1
PTPRS	5802	broad.mit.edu	36	19	5161796	5161796	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5161796G>A	uc002mbv.1	-	c.5255C>T	c.(5254-5256)GCG>GTG	p.A1752V	PTPRS_uc002mbu.1_Missense_Mutation_p.A1321V|PTPRS_uc002mbw.1_Missense_Mutation_p.A1714V|PTPRS_uc002mbx.1_Missense_Mutation_p.A1309V|PTPRS_uc002mby.1_Missense_Mutation_p.A1305V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1752	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4														0.362637	83.843078	85.356655	33	58	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Missense_Mutation	SNP	5161796	5161796	13269	19	G	A	A	38	38	PTPRS	A	1	1
PTPRS	5802	broad.mit.edu	36	19	5163225	5163225	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5163225G>A	uc002mbv.1	-	c.4806C>T	c.(4804-4806)ATC>ATT	p.I1602I	PTPRS_uc002mbu.1_Silent_p.I1171I|PTPRS_uc002mbw.1_Silent_p.I1564I|PTPRS_uc002mbx.1_Silent_p.I1159I|PTPRS_uc002mby.1_Silent_p.I1155I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1602	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4														0.327586	139.615671	144.202802	57	117	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Silent	SNP	5163225	5163225	13269	19	G	A	A	37	37	PTPRS	A	1	1
PNMAL1	55228	broad.mit.edu	36	19	51665086	51665086	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51665086G>A	uc002peq.2	-	c.1047C>T	c.(1045-1047)GCC>GCT	p.A349A	PNMAL1_uc002per.2_Silent_p.A349A	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	349											0		Ovarian(192;0.00965)|all_neural(266;0.0459)												0.435821	856.113373	858.513678	292	378	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	Silent	SNP	51665086	51665086	12584	19	G	A	A	39	39	PNMAL1	A	1	1
PNMAL1	55228	broad.mit.edu	36	19	51665209	51665209	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51665209C>T	uc002peq.2	-	c.924G>A	c.(922-924)GCG>GCA	p.A308A	PNMAL1_uc002per.2_Silent_p.A308A	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	308											0		Ovarian(192;0.00965)|all_neural(266;0.0459)												0.223762	241.215992	276.643603	113	392	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	Silent	SNP	51665209	51665209	12584	19	C	T	T	31	31	PNMAL1	T	1	1
CALM3	808	broad.mit.edu	36	19	51803361	51803361	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51803361G>A	uc002pew.1	+	c.102G>A	c.(100-102)GGG>GGA	p.G34G	CALM3_uc010ekp.1_5'UTR	NM_005184	NP_008819	P62158	CALM_HUMAN	calmodulin 3	34	EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			ovary(1)	1		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)									0.446009	269.59357	270.134431	95	118	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Silent	SNP	51803361	51803361	2703	19	G	A	A	41	41	CALM3	A	2	2
PTPRS	5802	broad.mit.edu	36	19	5182532	5182532	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5182532G>A	uc002mbv.1	-	c.1944C>T	c.(1942-1944)AAC>AAT	p.N648N	PTPRS_uc002mbu.1_Intron|PTPRS_uc002mbw.1_Silent_p.N635N|PTPRS_uc002mbx.1_Intron|PTPRS_uc002mby.1_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	648	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4														0.174603	17.284088	23.583225	11	52	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Silent	SNP	5182532	5182532	13269	19	G	A	A	40	40	PTPRS	A	1	1
STRN4	29888	broad.mit.edu	36	19	51925879	51925879	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51925879C>T	uc002pfm.1	-	c.829G>A	c.(829-831)GAC>AAC	p.D277N	STRN4_uc002pfl.1_Missense_Mutation_p.D277N	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	zinedin isoform 2	277						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)								302				0.396175	387.266032	390.726862	145	221	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	Missense_Mutation	SNP	51925879	51925879	15851	19	C	T	T	31	31	STRN4	T	1	1
PTPRS	5802	broad.mit.edu	36	19	5195481	5195481	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5195481G>A	uc002mbv.1	-	c.1001C>T	c.(1000-1002)GCT>GTT	p.A334V	PTPRS_uc002mbu.1_Missense_Mutation_p.A321V|PTPRS_uc002mbw.1_Missense_Mutation_p.A321V|PTPRS_uc002mbx.1_Missense_Mutation_p.A325V|PTPRS_uc002mby.1_Missense_Mutation_p.A321V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	334	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4														0.441176	119.882306	120.184396	45	57	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Missense_Mutation	SNP	5195481	5195481	13269	19	G	A	A	34	34	PTPRS	A	2	2
GRLF1	2909	broad.mit.edu	36	19	52114495	52114495	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52114495C>T	uc010ekv.1	+	c.723C>T	c.(721-723)AGC>AGT	p.S241S		NM_004491	NP_004482	Q9NRY4	GRLF1_HUMAN	glucocorticoid receptor DNA binding factor 1	241					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	DNA binding|Rho GTPase activator activity|transcription corepressor activity|transcription repressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)												0.432749	198.608427	199.285172	74	97	CC		KEEP	---	---	---	---	capture		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	Silent	SNP	52114495	52114495	7074	19	C	T	T	25	25	GRLF1	T	2	2
GRLF1	2909	broad.mit.edu	36	19	52117089	52117089	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52117089C>T	uc010ekv.1	+	c.3317C>T	c.(3316-3318)TCC>TTC	p.S1106F		NM_004491	NP_004482	Q9NRY4	GRLF1_HUMAN	glucocorticoid receptor DNA binding factor 1	1106					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	DNA binding|Rho GTPase activator activity|transcription corepressor activity|transcription repressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)												0.471264	118.46416	118.526933	41	46	CC		KEEP	---	---	---	---	capture		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	Missense_Mutation	SNP	52117089	52117089	7074	19	C	T	T	30	30	GRLF1	T	2	2
GRLF1	2909	broad.mit.edu	36	19	52195463	52195463	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52195463G>A	uc010ekv.1	+	c.4178G>A	c.(4177-4179)AGC>AAC	p.S1393N		NM_004491	NP_004482	Q9NRY4	GRLF1_HUMAN	glucocorticoid receptor DNA binding factor 1	1393	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	DNA binding|Rho GTPase activator activity|transcription corepressor activity|transcription repressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)												0.215457	211.450177	243.372203	92	335	GG		KEEP	---	---	---	---	capture		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	Missense_Mutation	SNP	52195463	52195463	7074	19	G	A	A	34	34	GRLF1	A	2	2
GRLF1	2909	broad.mit.edu	36	19	52195600	52195600	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52195600C>T	uc010ekv.1	+	c.4315C>T	c.(4315-4317)CGG>TGG	p.R1439W		NM_004491	NP_004482	Q9NRY4	GRLF1_HUMAN	glucocorticoid receptor DNA binding factor 1	1439					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	DNA binding|Rho GTPase activator activity|transcription corepressor activity|transcription repressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)												0.231441	108.855701	123.996356	53	176	CC		KEEP	---	---	---	---	capture		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	Missense_Mutation	SNP	52195600	52195600	7074	19	C	T	T	31	31	GRLF1	T	1	1
PTPRS	5802	broad.mit.edu	36	19	5225218	5225218	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5225218G>A	uc002mbv.1	-	c.229C>T	c.(229-231)CGC>TGC	p.R77C	PTPRS_uc002mbu.1_Missense_Mutation_p.R77C|PTPRS_uc002mbw.1_Missense_Mutation_p.R77C|PTPRS_uc002mbx.1_Missense_Mutation_p.R77C|PTPRS_uc002mby.1_Missense_Mutation_p.R77C|PTPRS_uc002mbz.1_Missense_Mutation_p.R77C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	77	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4														0.366197	134.857321	137.094377	52	90	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Missense_Mutation	SNP	5225218	5225218	13269	19	G	A	A	38	38	PTPRS	A	1	1
ZC3H4	23211	broad.mit.edu	36	19	52264267	52264267	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52264267G>A	uc002pga.2	-	c.2320C>T	c.(2320-2322)CAG>TAG	p.Q774*	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	774	Potential.						nucleic acid binding|zinc ion binding			ovary(2)	2		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)												0.492958	328.808433	328.816534	105	108	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	Nonsense_Mutation	SNP	52264267	52264267	18158	19	G	A	A	47	47	ZC3H4	A	5	2
ZC3H4	23211	broad.mit.edu	36	19	52277281	52277281	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52277281C>T	uc002pga.2	-	c.1330G>A	c.(1330-1332)GGT>AGT	p.G444S	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	444	C3H1-type 2.						nucleic acid binding|zinc ion binding			ovary(2)	2		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)												0.240458	139.385184	155.501751	63	199	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	Missense_Mutation	SNP	52277281	52277281	18158	19	C	T	T	31	31	ZC3H4	T	1	1
ZC3H4	23211	broad.mit.edu	36	19	52280257	52280257	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52280257G>A	uc002pga.2	-	c.1003C>T	c.(1003-1005)CGA>TGA	p.R335*	ZC3H4_uc002pgb.1_5'UTR	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	335	Gly-rich.						nucleic acid binding|zinc ion binding			ovary(2)	2		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)												0.421348	184.947429	185.915339	75	103	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	Nonsense_Mutation	SNP	52280257	52280257	18158	19	G	A	A	37	37	ZC3H4	A	5	1
CCDC9	26093	broad.mit.edu	36	19	52465744	52465744	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52465744G>T	uc002pgh.1	+	c.1044G>T	c.(1042-1044)AAG>AAT	p.K348N		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	348											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)												0.407143	144.406535	145.471219	57	83	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	52465744	52465744	2992	19	G	T	T	33	33	CCDC9	T	3	3
MEIS3	56917	broad.mit.edu	36	19	52612400	52612400	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52612400T>C	uc002pgq.1	-	c.275A>G	c.(274-276)TAC>TGC	p.Y92C	MEIS3_uc002pgp.1_5'Flank|MEIS3_uc002pgr.1_5'UTR|MEIS3_uc002pgs.1_Missense_Mutation_p.Y11C|MEIS3_uc002pgt.1_Missense_Mutation_p.Y11C|MEIS3_uc002pgu.1_Missense_Mutation_p.Y11C|MEIS3_uc002pgv.1_Missense_Mutation_p.Y11C|MEIS3_uc010eld.1_Missense_Mutation_p.Y11C|MEIS3_uc002pgw.1_Missense_Mutation_p.T124A	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	11					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)												0.430769	185.491914	186.032334	56	74	TT		KEEP	---	---	---	---	capture		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	Missense_Mutation	SNP	52612400	52612400	9858	19	T	C	C	57	57	MEIS3	C	4	4
EHD2	30846	broad.mit.edu	36	19	52921246	52921246	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52921246G>A	uc002phj.2	+	c.868G>A	c.(868-870)GCC>ACC	p.A290T		NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	290					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)	1		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)												0.666667	35.18941	35.628199	12	6	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	Missense_Mutation	SNP	52921246	52921246	5167	19	G	A	A	34	34	EHD2	A	2	2
GLTSCR2	29997	broad.mit.edu	36	19	52940734	52940734	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52940734C>T	uc002phm.1	+	c.106C>T	c.(106-108)CGG>TGG	p.R36W	GLTSCR2_uc002phk.1_Missense_Mutation_p.R36W|GLTSCR2_uc002phl.1_Missense_Mutation_p.R36W|GLTSCR2_uc010elj.1_Missense_Mutation_p.R36W	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	36						nucleolus				central_nervous_system(1)	1		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)				Colon(58;613 1041 9473 10089 15241)								0.25641	91.049396	99.42968	40	116	CC		KEEP	---	---	---	---	capture		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	Missense_Mutation	SNP	52940734	52940734	6743	19	C	T	T	27	27	GLTSCR2	T	1	1
CRX	1406	broad.mit.edu	36	19	53034575	53034575	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53034575C>T	uc002phq.2	+	c.439C>T	c.(439-441)CCC>TCC	p.P147S		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	147			Missing (in LCA7).		organ morphogenesis|response to stimulus|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)				Pancreas(57;461 1196 22201 40716 47188)								0.233871	122.30349	138.398974	58	190	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	Missense_Mutation	SNP	53034575	53034575	4041	19	C	T	T	26	26	CRX	T	2	2
SULT2A1	6822	broad.mit.edu	36	19	53081317	53081317	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53081317C>T	uc002phr.1	-	c.10G>A	c.(10-12)GAT>AAT	p.D4N		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A,	4					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)												0.412451	289.607135	291.324793	106	151	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Missense_Mutation	SNP	53081317	53081317	15901	19	C	T	T	31	31	SULT2A1	T	1	1
LIG1	3978	broad.mit.edu	36	19	53318036	53318036	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53318036G>A	uc002pia.1	-	c.2199C>T	c.(2197-2199)TAC>TAT	p.Y733Y	LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	733					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)			Bleomycin(DB00290)									0.436066	361.612761	362.70132	133	172	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Silent	SNP	53318036	53318036	9107	19	G	A	A	40	40	LIG1	A	1	1
LIG1	3978	broad.mit.edu	36	19	53323045	53323045	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53323045G>A	uc002pia.1	-	c.1866C>T	c.(1864-1866)GCC>GCT	p.A622A	LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	622					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)			Bleomycin(DB00290)									0.215859	231.12125	264.931818	98	356	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Silent	SNP	53323045	53323045	9107	19	G	A	A	39	39	LIG1	A	1	1
LIG1	3978	broad.mit.edu	36	19	53328080	53328080	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53328080C>T	uc002pia.1	-	c.1696G>A	c.(1696-1698)GAA>AAA	p.E566K	LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	566		ATP.	E -> K (found in a patient with a syndrome of immunodeficiency and increased cellular sensitivity to DNA- damaging agents due to LIG1 deficiency; compound heterozygote carrying W-771).		anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)			Bleomycin(DB00290)									0.444219	617.29377	618.637815	219	274	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Missense_Mutation	SNP	53328080	53328080	9107	19	C	T	T	31	31	LIG1	T	1	1
CCDC114	93233	broad.mit.edu	36	19	53492119	53492119	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53492119C>A	uc002pir.1	-	c.1939G>T	c.(1939-1941)GAC>TAC	p.D647Y	CCDC114_uc002pip.1_Missense_Mutation_p.D440Y|CCDC114_uc002piq.1_Missense_Mutation_p.D440Y|CCDC114_uc002pio.2_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	647	Ser-rich.									ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)												0.240602	59.817456	68.006501	32	101	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	Missense_Mutation	SNP	53492119	53492119	2871	19	C	A	A	32	32	CCDC114	A	3	3
EMP3	2014	broad.mit.edu	36	19	53524513	53524513	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53524513C>T	uc002piv.2	+	c.274C>T	c.(274-276)CGA>TGA	p.R92*		NM_001425	NP_001416	P54852	EMP3_HUMAN	epithelial membrane protein 3	92					cell growth|negative regulation of cell proliferation	integral to membrane					0		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)												0.272727	131.073447	140.812442	57	152	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	Nonsense_Mutation	SNP	53524513	53524513	5296	19	C	T	T	27	27	EMP3	T	5	1
SYNGR4	23546	broad.mit.edu	36	19	53571220	53571220	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53571220C>A	uc002piz.1	+	c.538C>A	c.(538-540)CTG>ATG	p.L180M		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	180						integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)												0.191489	83.622559	104.542966	45	190	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	Missense_Mutation	SNP	53571220	53571220	15972	19	C	A	A	24	24	SYNGR4	A	3	3
KDELR1	10945	broad.mit.edu	36	19	53579321	53579321	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53579321G>T	uc002pjb.1	-	c.582C>A	c.(580-582)TTC>TTA	p.F194L	KDELR1_uc002pja.1_Missense_Mutation_p.F132L	NM_006801	NP_006792	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum	194	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)												0.269841	37.842394	40.85725	17	46	GG		KEEP	---	---	---	---	capture		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	Missense_Mutation	SNP	53579321	53579321	8425	19	G	T	T	33	33	KDELR1	T	3	3
KCNJ14	3770	broad.mit.edu	36	19	53659484	53659484	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53659484C>T	uc002pje.1	+	c.949C>T	c.(949-951)CGC>TGC	p.R317C	KCNJ14_uc002pjf.1_Missense_Mutation_p.R317C	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	317	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity				0		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)				NSCLC(148;170 3504 35216)								0.217391	20.925046	24.313307	10	36	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Missense_Mutation	SNP	53659484	53659484	8353	19	C	T	T	31	31	KCNJ14	T	1	1
CYTH2	9266	broad.mit.edu	36	19	53673157	53673157	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53673157G>A	uc010ely.1	+	c.831G>A	c.(829-831)TGG>TGA	p.W277*	CYTH2_uc002pji.1_Non-coding_Transcript|CYTH2_uc002pjj.2_5'Flank	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	277	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1														0.144928	30.011969	46.753481	20	118	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	53673157	53673157	4369	19	G	A	A	41	41	CYTH2	A	5	2
FUT1	2523	broad.mit.edu	36	19	53946235	53946235	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53946235G>A	uc002pkk.1	-	c.116C>T	c.(115-117)TCG>TTG	p.S39L	FUT1_uc010emg.1_Missense_Mutation_p.S39L	NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	39	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)												0.207207	46.211576	54.996316	23	88	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	Missense_Mutation	SNP	53946235	53946235	6352	19	G	A	A	37	37	FUT1	A	1	1
FGF21	26291	broad.mit.edu	36	19	53951425	53951425	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53951425C>T	uc002pkn.1	+	c.120C>T	c.(118-120)TTC>TTT	p.F40F	FUT1_uc002pkk.1_5'Flank|FUT1_uc002pkl.1_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.F40F	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21 precursor	40					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity				0		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)												0.439252	130.611361	130.954656	47	60	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	Silent	SNP	53951425	53951425	6087	19	C	T	T	31	31	FGF21	T	1	1
PLEKHA4	57664	broad.mit.edu	36	19	54036380	54036380	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54036380C>A	uc002pkx.1	-	c.1744_splice	c.e17-1	p.A582_splice	PLEKHA4_uc002pkw.1_Splice_Site_SNP|PLEKHA4_uc010eml.1_Intron	NM_020904	NP_065955			pleckstrin homology domain containing, family A							cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)												0.147541	12.552403	19.817677	9	52	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	Splice_Site_SNP	SNP	54036380	54036380	12484	19	C	A	A	24	24	PLEKHA4	A	5	3
PPP1R15A	23645	broad.mit.edu	36	19	54068406	54068406	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54068406G>A	uc002pky.2	+	c.104G>A	c.(103-105)CGC>CAC	p.R35H		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	35	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.447059	102.993617	103.190676	38	47	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	Missense_Mutation	SNP	54068406	54068406	12798	19	G	A	A	38	38	PPP1R15A	A	1	1
ZNRF4	148066	broad.mit.edu	36	19	5407120	5407120	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5407120G>T	uc002mca.2	+	c.618G>T	c.(616-618)CAG>CAT	p.Q206H		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	206	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			large_intestine(2)	2														0.494118	339.898246	339.906487	126	129	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	Missense_Mutation	SNP	5407120	5407120	18818	19	G	T	T	33	33	ZNRF4	T	3	3
TULP2	7288	broad.mit.edu	36	19	54076191	54076191	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54076191T>C	uc002pkz.1	-	c.1452A>G	c.(1450-1452)GAA>GAG	p.E484E		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	484					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.307229	158.473055	163.966758	51	115	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	Silent	SNP	54076191	54076191	17329	19	T	C	C	60	60	TULP2	C	4	4
TULP2	7288	broad.mit.edu	36	19	54090449	54090449	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54090449G>A	uc002pkz.1	-	c.335C>T	c.(334-336)CCG>CTG	p.P112L		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	112					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.257143	127.459282	138.683913	54	156	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	Missense_Mutation	SNP	54090449	54090449	17329	19	G	A	A	39	39	TULP2	A	1	1
DHDH	27294	broad.mit.edu	36	19	54130104	54130104	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54130104G>A	uc002ple.1	+	c.126G>A	c.(124-126)GCG>GCA	p.A42A		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	42					carbohydrate metabolic process|oxidation-reduction process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.25	7.290932	8.203484	4	12	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	Silent	SNP	54130104	54130104	4658	19	G	A	A	37	37	DHDH	A	1	1
DHDH	27294	broad.mit.edu	36	19	54134605	54134605	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54134605G>A	uc002ple.1	+	c.454G>A	c.(454-456)GCA>ACA	p.A152T		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	152					carbohydrate metabolic process|oxidation-reduction process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.464115	265.138203	265.373188	97	112	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	Missense_Mutation	SNP	54134605	54134605	4658	19	G	A	A	42	42	DHDH	A	2	2
RUVBL2	10856	broad.mit.edu	36	19	54206297	54206297	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54206297G>A	uc002plr.1	+	c.919G>A	c.(919-921)GAG>AAG	p.E307K	RUVBL2_uc002plq.1_Missense_Mutation_p.E262K|RUVBL2_uc010emn.1_Missense_Mutation_p.E262K|RUVBL2_uc002pls.1_Non-coding_Transcript	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	307					DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.212766	39.95072	47.12154	20	74	GG		KEEP	---	---	---	---	capture		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	Missense_Mutation	SNP	54206297	54206297	14233	19	G	A	A	37	37	RUVBL2	A	1	1
RUVBL2	10856	broad.mit.edu	36	19	54209647	54209647	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54209647G>T	uc002plr.1	+	c.1096G>T	c.(1096-1098)GAC>TAC	p.D366Y	RUVBL2_uc002plq.1_Missense_Mutation_p.D321Y|RUVBL2_uc010emn.1_Missense_Mutation_p.D321Y|RUVBL2_uc002pls.1_Non-coding_Transcript	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	366					DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.471698	130.936321	131.009915	50	56	GG		KEEP	---	---	---	---	capture		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	Missense_Mutation	SNP	54209647	54209647	14233	19	G	T	T	33	33	RUVBL2	T	3	3
RUVBL2	10856	broad.mit.edu	36	19	54210676	54210676	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54210676C>A	uc002plr.1	+	c.1287C>A	c.(1285-1287)GTC>GTA	p.V429V	RUVBL2_uc002plq.1_Missense_Mutation_p.S341Y|RUVBL2_uc010emn.1_Silent_p.V384V|RUVBL2_uc002pls.1_Non-coding_Transcript	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	429					DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.24359	79.069425	88.423291	38	118	CC		KEEP	---	---	---	---	capture		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	Silent	SNP	54210676	54210676	14233	19	C	A	A	32	32	RUVBL2	A	3	3
NTF4	4909	broad.mit.edu	36	19	54256487	54256487	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54256487G>A	uc002pmf.2	-	c.580C>T	c.(580-582)CGA>TGA	p.R194*	NTF4_uc010emr.1_Nonsense_Mutation_p.R194*	NM_006179	NP_006170	P34130	NTF4_HUMAN	neurotrophin 5 preproprotein	194					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity				0		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.411215	121.093118	121.825474	44	63	GG		KEEP	---	---	---	---	capture		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Nonsense_Mutation	SNP	54256487	54256487	11102	19	G	A	A	37	37	NTF4	A	5	1
TRPM4	54795	broad.mit.edu	36	19	54391900	54391900	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54391900G>A	uc002pmw.1	+	c.2602G>A	c.(2602-2604)GAC>AAC	p.D868N	TRPM4_uc010emu.1_Intron|TRPM4_uc002pmx.1_Missense_Mutation_p.D694N|TRPM4_uc010emv.1_Missense_Mutation_p.D753N|TRPM4_uc002pmy.1_Missense_Mutation_p.D210N	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	868	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)												0.333333	23.266508	23.930471	9	18	GG		KEEP	---	---	---	---	capture		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	Missense_Mutation	SNP	54391900	54391900	17139	19	G	A	A	37	37	TRPM4	A	1	1
SLC6A16	28968	broad.mit.edu	36	19	54488924	54488924	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54488924G>T	uc002pmz.1	-	c.1590C>A	c.(1588-1590)TTC>TTA	p.F530L	SLC6A16_uc002pna.2_Missense_Mutation_p.F530L	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	530						integral to plasma membrane|intracellular	neurotransmitter:sodium symporter activity			ovary(1)|kidney(1)	2		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)												0.22327	145.529164	167.947492	71	247	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	Missense_Mutation	SNP	54488924	54488924	15176	19	G	T	T	33	33	SLC6A16	T	3	3
CCDC155	147872	broad.mit.edu	36	19	54602682	54602682	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54602682G>A	uc002pnm.1	+	c.935G>A	c.(934-936)CGC>CAC	p.R312H	CCDC155_uc010emx.1_Missense_Mutation_p.R285H	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	312	Potential.					integral to membrane	calcium ion binding			ovary(1)	1														0.166667	8.262509	11.418823	5	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54602682	54602682	2910	19	G	A	A	38	38	CCDC155	A	1	1
CCDC155	147872	broad.mit.edu	36	19	54612098	54612098	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54612098C>T	uc002pnm.1	+	c.1389C>T	c.(1387-1389)GTC>GTT	p.V463V	CCDC155_uc010emx.1_Silent_p.V434V	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	463						integral to membrane	calcium ion binding			ovary(1)	1														0.625	15.176159	15.285761	5	3	CC		KEEP	---	---	---	---	capture			Silent	SNP	54612098	54612098	2910	19	C	T	T	30	30	CCDC155	T	2	2
SLC17A7	57030	broad.mit.edu	36	19	54625657	54625657	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54625657C>T	uc002pnp.1	-	c.1614G>A	c.(1612-1614)CCG>CCA	p.P538P	SLC17A7_uc002pno.1_Silent_p.P200P	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	538	Cytoplasmic (Potential).|Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)												0.338235	48.070629	49.612582	23	45	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	Silent	SNP	54625657	54625657	14918	19	C	T	T	27	27	SLC17A7	T	1	1
SLC17A7	57030	broad.mit.edu	36	19	54629867	54629867	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54629867G>A	uc002pnp.1	-	c.519C>T	c.(517-519)ATC>ATT	p.I173I	SLC17A7_uc002pno.1_5'Flank|SLC17A7_uc002pnq.1_Silent_p.I106I	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	173	Helical; (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)												0.242424	37.772838	41.762542	16	50	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	Silent	SNP	54629867	54629867	14918	19	G	A	A	33	33	SLC17A7	A	2	2
FCGRT	2217	broad.mit.edu	36	19	54709441	54709441	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54709441C>T	uc002poe.1	+	c.487C>T	c.(487-489)CGG>TGG	p.R163W	FCGRT_uc002pod.1_Non-coding_Transcript|FCGRT_uc002pof.1_Missense_Mutation_p.R68W|FCGRT_uc002pog.1_Missense_Mutation_p.R163W|FCGRT_uc002poh.1_Missense_Mutation_p.R23W	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter,	163	Extracellular (Potential).|Alpha-2.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)												0.56	76.783608	76.938106	28	22	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	Missense_Mutation	SNP	54709441	54709441	6023	19	C	T	T	27	27	FCGRT	T	1	1
SCAF1	58506	broad.mit.edu	36	19	54841261	54841261	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54841261A>G	uc002poq.1	+	c.251A>G	c.(250-252)GAC>GGC	p.D84G	SCAF1_uc002por.1_Missense_Mutation_p.D84G	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	84					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)												0.256881	68.6923	74.685726	28	81	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	Missense_Mutation	SNP	54841261	54841261	14349	19	A	G	G	10	10	SCAF1	G	4	4
SCAF1	58506	broad.mit.edu	36	19	54846040	54846040	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54846040C>A	uc002poq.1	+	c.582C>A	c.(580-582)TCC>TCA	p.S194S	SCAF1_uc002por.1_Silent_p.S194S	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	194	Pro-rich.|Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)												0.388889	16.61551	16.811757	7	11	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	Silent	SNP	54846040	54846040	14349	19	C	A	A	24	24	SCAF1	A	3	3
SCAF1	58506	broad.mit.edu	36	19	54847936	54847936	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54847936T>C	uc002poq.1	+	c.2478T>C	c.(2476-2478)TGT>TGC	p.C826C	SCAF1_uc002por.1_Silent_p.C826C	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	826	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)												0.5	116.153962	116.153962	34	34	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	Silent	SNP	54847936	54847936	14349	19	T	C	C	60	60	SCAF1	C	4	4
CPT1C	126129	broad.mit.edu	36	19	54905457	54905457	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54905457C>T	uc002ppj.1	+	c.1635C>T	c.(1633-1635)GTC>GTT	p.V545V	CPT1C_uc002ppl.2_Silent_p.V511V|CPT1C_uc002ppi.1_Silent_p.V462V|CPT1C_uc010eng.1_Silent_p.V545V|CPT1C_uc010enh.1_Silent_p.V545V|CPT1C_uc002ppk.1_Silent_p.V534V|CPT1C_uc010eni.1_Silent_p.V202V	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	545	Cytoplasmic (Potential).				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)												0.268421	120.640671	129.83978	51	139	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	Silent	SNP	54905457	54905457	3972	19	C	T	T	31	31	CPT1C	T	1	1
TSKS	60385	broad.mit.edu	36	19	54939330	54939330	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54939330G>A	uc002ppm.1	-	c.1331C>T	c.(1330-1332)TCC>TTC	p.S444F		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	444							protein binding			large_intestine(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)												0.204225	58.697798	70.227062	29	113	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	Missense_Mutation	SNP	54939330	54939330	17177	19	G	A	A	41	41	TSKS	A	2	2
AP2A1	160	broad.mit.edu	36	19	54988107	54988107	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54988107G>T	uc002ppn.1	+	c.651G>T	c.(649-651)AAG>AAT	p.K217N	AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.1_Missense_Mutation_p.K217N	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	217					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)												0.296296	18.986821	19.99052	8	19	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	Missense_Mutation	SNP	54988107	54988107	749	19	G	T	T	33	33	AP2A1	T	3	3
AP2A1	160	broad.mit.edu	36	19	55000956	55000956	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55000956G>A	uc002ppn.1	+	c.2667G>A	c.(2665-2667)GCG>GCA	p.A889A	AP2A1_uc002ppo.1_Silent_p.A867A|AP2A1_uc010enk.1_Silent_p.A20A	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	889					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)												0.185393	59.471642	75.992991	33	145	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	Silent	SNP	55000956	55000956	749	19	G	A	A	38	38	AP2A1	A	1	1
FUZ	80199	broad.mit.edu	36	19	55006489	55006489	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55006489G>A	uc002ppq.1	-	c.435C>T	c.(433-435)ATC>ATT	p.I145I	FUZ_uc002ppr.1_Silent_p.I45I|FUZ_uc002pps.1_Non-coding_Transcript|FUZ_uc002ppt.1_Non-coding_Transcript|FUZ_uc002ppu.1_Silent_p.I109I|FUZ_uc002ppv.1_Silent_p.I95I	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	145					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)												0.246377	38.442719	42.482967	17	52	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	Silent	SNP	55006489	55006489	6363	19	G	A	A	37	37	FUZ	A	1	1
PTOV1	53635	broad.mit.edu	36	19	55050099	55050099	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55050099G>T	uc002pqf.1	+	c.511G>T	c.(511-513)GAC>TAC	p.D171Y	PTOV1_uc002ppz.2_Non-coding_Transcript|PTOV1_uc002pqb.2_Missense_Mutation_p.D139Y|PTOV1_uc002pqa.1_Non-coding_Transcript|PTOV1_uc002pqc.1_Non-coding_Transcript|PTOV1_uc002pqd.2_Non-coding_Transcript|PTOV1_uc002pqe.1_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)												0.533333	41.758304	41.784402	16	14	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	Missense_Mutation	SNP	55050099	55050099	13224	19	G	T	T	33	33	PTOV1	T	3	3
PNKP	11284	broad.mit.edu	36	19	55057304	55057304	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55057304G>A	uc002pqh.1	-	c.1076C>T	c.(1075-1077)GCC>GTC	p.A359V	PNKP_uc002pqg.1_Missense_Mutation_p.A140V|PNKP_uc002pqi.1_Missense_Mutation_p.A320V|PNKP_uc002pqj.1_Missense_Mutation_p.A359V|PNKP_uc010enm.1_Missense_Mutation_p.A328V|PNKP_uc002pqk.1_Missense_Mutation_p.A359V	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	359					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)												0.178571	7.462249	10.184628	5	23	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	Missense_Mutation	SNP	55057304	55057304	12573	19	G	A	A	42	42	PNKP	A	2	2
ZNF473	25888	broad.mit.edu	36	19	55239794	55239794	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55239794C>A	uc002prn.1	+	c.282C>A	c.(280-282)TTC>TTA	p.F94L	ZNF473_uc002prm.1_Missense_Mutation_p.F94L	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	94					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)												0.165217	57.540477	82.119173	38	192	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	Missense_Mutation	SNP	55239794	55239794	18525	19	C	A	A	32	32	ZNF473	A	3	3
ZNF473	25888	broad.mit.edu	36	19	55240731	55240731	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55240731G>A	uc002prn.1	+	c.1219G>A	c.(1219-1221)GAA>AAA	p.E407K	ZNF473_uc002prm.1_Missense_Mutation_p.E407K	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	407	C2H2-type 6; degenerate.|Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)												0.216981	97.43197	113.097972	46	166	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	Missense_Mutation	SNP	55240731	55240731	18525	19	G	A	A	37	37	ZNF473	A	1	1
MYH14	79784	broad.mit.edu	36	19	55444737	55444737	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55444737C>T	uc010enu.1	+	c.1501C>T	c.(1501-1503)CTC>TTC	p.L501F	MYH14_uc002prq.1_Missense_Mutation_p.L501F|MYH14_uc002prr.1_Missense_Mutation_p.L493F	NM_001077186	NP_001070654	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 1	493	Myosin head-like.				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)												0.455357	142.008954	142.203355	51	61	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	Missense_Mutation	SNP	55444737	55444737	10428	19	C	T	T	28	28	MYH14	T	2	2
MYH14	79784	broad.mit.edu	36	19	55486106	55486106	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55486106C>T	uc010enu.1	+	c.5116C>T	c.(5116-5118)CGC>TGC	p.R1706C	MYH14_uc002prq.1_Missense_Mutation_p.R1673C|MYH14_uc002prr.1_Missense_Mutation_p.R1665C|MYH14_uc010env.1_Missense_Mutation_p.R16C|MYH14_uc002prs.1_Missense_Mutation_p.R16C	NM_001077186	NP_001070654	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 1	1665	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)												0.181818	7.287047	9.379743	4	18	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	Missense_Mutation	SNP	55486106	55486106	10428	19	C	T	T	31	31	MYH14	T	1	1
HCN2	610	broad.mit.edu	36	19	554881	554881	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:554881C>T	uc002lpe.1	+	c.970C>T	c.(970-972)CGC>TGC	p.R324C		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	324	Helical; Voltage-sensor; Name=Segment S4; (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)				Melanoma(145;1175 2427 8056 36306)								0.631579	244.912646	246.934507	84	49	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	554881	554881	7279	19	C	T	T	27	27	HCN2	T	1	1
KCNC3	3748	broad.mit.edu	36	19	55518870	55518870	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55518870G>A	uc002pru.1	-	c.1152C>T	c.(1150-1152)ATC>ATT	p.I384I	KCNC3_uc002prt.1_Silent_p.I20I	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	384	Helical; Name=Segment S3; (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)				Melanoma(91;1496 2324 50908)								0.206897	61.071107	72.617095	30	115	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Silent	SNP	55518870	55518870	8321	19	G	A	A	37	37	KCNC3	A	1	1
NAPSA	9476	broad.mit.edu	36	19	55557253	55557253	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55557253C>T	uc002prx.1	-	c.213G>A	c.(211-213)TCG>TCA	p.S71S	NR1H2_uc002prv.2_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	71					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)												0.474453	186.661702	186.739565	65	72	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	Silent	SNP	55557253	55557253	10562	19	C	T	T	31	31	NAPSA	T	1	1
SAFB2	9667	broad.mit.edu	36	19	5555942	5555942	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5555942G>A	uc002mcd.1	-	c.1302C>T	c.(1300-1302)GTC>GTT	p.V434V		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	434	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0						Ovarian(127;888 1728 23957 44128 52668)								0.145161	37.596183	60.138762	27	159	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	Silent	SNP	5555942	5555942	14287	19	G	A	A	37	37	SAFB2	A	1	1
NR1H2	7376	broad.mit.edu	36	19	55577553	55577553	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55577553T>C	uc010enw.1	+	c.1268T>C	c.(1267-1269)ATG>ACG	p.M423T	NR1H2_uc002prv.2_Non-coding_Transcript|NR1H2_uc002prz.2_Missense_Mutation_p.M378T|NR1H2_uc002psa.2_Missense_Mutation_p.M325T|POLD1_uc002psb.2_5'Flank|POLD1_uc002psc.2_5'Flank|POLD1_uc010enx.1_5'Flank	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	422	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage derived foam cell differentiation|negative regulation of pinocytosis|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of lipoprotein lipase activity|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)								464				0.227273	25.835916	28.833087	10	34	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	Missense_Mutation	SNP	55577553	55577553	11022	19	T	C	C	51	51	NR1H2	C	4	4
POLD1	5424	broad.mit.edu	36	19	55594022	55594022	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55594022C>T	uc010eny.1	+	c.102C>T	c.(100-102)TTC>TTT	p.F34F	POLD1_uc002psb.2_Silent_p.F34F|POLD1_uc002psc.2_Silent_p.F34F|POLD1_uc010enx.1_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic	34					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			central_nervous_system(1)	1		all_neural(266;0.0571)												0.277778	11.465534	12.266686	5	13	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	Silent	SNP	55594022	55594022	12618	19	C	T	T	31	31	POLD1	T	1	1
ASPDH	554235	broad.mit.edu	36	19	55707516	55707516	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55707516C>T	uc010enz.1	-	c.566G>A	c.(565-567)CGA>CAA	p.R189Q	JOSD2_uc002psn.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.2_Missense_Mutation_p.R84Q	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN	aspartate dehydrogenase isoform 1	189					NAD biosynthetic process|NADP catabolic process|oxidation-reduction process		aspartate dehydrogenase activity|NADP binding				0														0.590909	116.532604	117.009132	39	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55707516	55707516	1070	19	C	T	T	31	31	ASPDH	T	1	1
LRRC4B	94030	broad.mit.edu	36	19	55712766	55712766	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55712766C>T	uc002pss.1	-	c.2016G>A	c.(2014-2016)GCG>GCA	p.A672A		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	672	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)	1		all_neural(266;0.131)												0.289474	24.308262	25.819226	11	27	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	Silent	SNP	55712766	55712766	9382	19	C	T	T	27	27	LRRC4B	T	1	1
LRRC4B	94030	broad.mit.edu	36	19	55743656	55743656	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55743656G>A	uc002pss.1	-	c.252C>T	c.(250-252)ATC>ATT	p.I84I		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	84	Extracellular (Potential).|LRRNT.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)	1		all_neural(266;0.131)												0.210526	17.185491	20.126847	8	30	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	Silent	SNP	55743656	55743656	9382	19	G	A	A	41	41	LRRC4B	A	2	2
SYT3	84258	broad.mit.edu	36	19	55824458	55824458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55824458C>T	uc002pst.1	-	c.1186G>A	c.(1186-1188)GAC>AAC	p.D396N	SYT3_uc002psu.1_Missense_Mutation_p.D396N|SYT3_uc002psv.1_Missense_Mutation_p.D396N	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	396	C2 1.|Cytoplasmic (Potential).	Calcium 2 (By similarity).|Calcium 3 (By similarity).				cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)												0.484848	89.791924	89.805247	32	34	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	Missense_Mutation	SNP	55824458	55824458	15996	19	C	T	T	31	31	SYT3	T	1	1
HCN2	610	broad.mit.edu	36	19	559129	559129	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:559129G>A	uc002lpe.1	+	c.1384G>A	c.(1384-1386)GCC>ACC	p.A462T		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	462	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)				Melanoma(145;1175 2427 8056 36306)								0.228155	91.228271	105.196998	47	159	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	559129	559129	7279	19	G	A	A	38	38	HCN2	A	1	1
ACPT	93650	broad.mit.edu	36	19	55988885	55988885	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55988885G>A	uc002pta.1	+	c.778G>A	c.(778-780)GGG>AGG	p.G260R		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	260	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)												0.226244	114.081834	129.258309	50	171	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	Missense_Mutation	SNP	55988885	55988885	169	19	G	A	A	43	43	ACPT	A	2	2
KLK1	3816	broad.mit.edu	36	19	56016867	56016867	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56016867G>A	uc002ptk.1	-	c.119C>T	c.(118-120)GCG>GTG	p.A40V		NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	40	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0		all_neural(266;0.0199)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.521127	98.494911	98.524896	37	34	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Missense_Mutation	SNP	56016867	56016867	8711	19	G	A	A	38	38	KLK1	A	1	1
KLK15	55554	broad.mit.edu	36	19	56021719	56021719	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56021719G>A	uc002ptl.1	-	c.588C>T	c.(586-588)GGC>GGT	p.G196G	KLK1_uc002ptk.1_5'Flank|KLK15_uc002ptn.1_Intron|KLK15_uc002ptm.1_Intron|KLK15_uc002pto.1_Silent_p.G195G|KLK15_uc010eod.1_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	196	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)				Pancreas(140;10 2513 7143 9246)								0.190045	76.23071	96.084361	42	179	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	Silent	SNP	56021719	56021719	8717	19	G	A	A	38	38	KLK15	A	1	1
KLK15	55554	broad.mit.edu	36	19	56022127	56022127	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56022127C>T	uc002ptl.1	-	c.300G>A	c.(298-300)GCG>GCA	p.A100A	KLK15_uc002ptn.1_Silent_p.A100A|KLK15_uc002ptm.1_Silent_p.A100A|KLK15_uc002pto.1_Silent_p.A99A|KLK15_uc010eod.1_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	100	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)				Pancreas(140;10 2513 7143 9246)								0.258621	63.07694	69.152264	30	86	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	Silent	SNP	56022127	56022127	8717	19	C	T	T	27	27	KLK15	T	1	1
KLK3	354	broad.mit.edu	36	19	56053540	56053540	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56053540G>A	uc002pts.1	+	c.507G>A	c.(505-507)AAG>AAA	p.K169K	KLK3_uc010eoe.1_Silent_p.K128K|KLK3_uc002ptr.1_Silent_p.K126K|KLK3_uc010eof.1_Silent_p.K48K	NM_001030047	NP_001025218	P07288	KLK3_HUMAN	prostate specific antigen isoform 3	169	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|kidney(1)	2		all_neural(266;0.057)				Colon(185;1767 2023 13025 30120 37630)				94				0.182292	139.103122	175.524113	70	314	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	Silent	SNP	56053540	56053540	8719	19	G	A	A	33	33	KLK3	A	2	2
KLK4	9622	broad.mit.edu	36	19	56103652	56103652	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56103652G>A	uc002pua.1	-	c.470C>T	c.(469-471)GCG>GTG	p.A157V	KLK4_uc002pty.1_Missense_Mutation_p.A108V|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Missense_Mutation_p.A62V|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_Missense_Mutation_p.A62V|KLK4_uc002pud.1_Missense_Mutation_p.A62V	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	157	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)												0.186528	61.896727	79.665979	36	157	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	Missense_Mutation	SNP	56103652	56103652	8720	19	G	A	A	38	38	KLK4	A	1	1
KLK5	25818	broad.mit.edu	36	19	56143741	56143741	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56143741G>A	uc002pue.1	-	c.693C>T	c.(691-693)TGC>TGT	p.C231C	KLK5_uc002puf.1_Silent_p.C231C|KLK5_uc002pug.1_Silent_p.C231C	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	231	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)												0.476923	172.148511	172.207691	62	68	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	Silent	SNP	56143741	56143741	8721	19	G	A	A	38	38	KLK5	A	1	1
KLK5	25818	broad.mit.edu	36	19	56145062	56145062	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56145062G>A	uc002pue.1	-	c.196C>T	c.(196-198)CGC>TGC	p.R66C	KLK5_uc002puf.1_Missense_Mutation_p.R66C|KLK5_uc002pug.1_Missense_Mutation_p.R66C	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	66					epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)												0.447368	99.348422	99.530111	34	42	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	Missense_Mutation	SNP	56145062	56145062	8721	19	G	A	A	39	39	KLK5	A	1	1
SAFB	6294	broad.mit.edu	36	19	5618835	5618835	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5618835C>T	uc002mcg.1	+	c.2562C>T	c.(2560-2562)GGC>GGT	p.G854G	SAFB_uc002mcf.1_Silent_p.G852G|SAFB_uc002mce.2_Silent_p.G853G	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	852	Interaction with SAFB2.|Gly-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3						Colon(88;338 1345 6184 8214 20897)								0.504274	160.605989	160.607736	59	58	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	Silent	SNP	5618835	5618835	14286	19	C	T	T	27	27	SAFB	T	1	1
KLK8	11202	broad.mit.edu	36	19	56195221	56195221	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56195221G>A	uc002puq.1	-	c.471C>T	c.(469-471)AGC>AGT	p.S157S	KLK8_uc002pur.1_Silent_p.S112S|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.S112S|KLK9_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	kallikrein 8 isoform 2	112	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)												0.5	276.067726	276.067726	98	98	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	Silent	SNP	56195221	56195221	8724	19	G	A	A	38	38	KLK8	A	1	1
KLK9	284366	broad.mit.edu	36	19	56198813	56198813	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56198813G>A	uc002pux.1	-	c.562C>T	c.(562-564)CTC>TTC	p.L188F	KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK9_uc002puv.1_Non-coding_Transcript|KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.L159F	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	188	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.0652)												0.420765	218.933969	219.938371	77	106	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	Missense_Mutation	SNP	56198813	56198813	8725	19	G	A	A	34	34	KLK9	A	2	2
KLK10	5655	broad.mit.edu	36	19	56210488	56210488	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56210488G>A	uc002puy.1	-	c.675C>T	c.(673-675)TGC>TGT	p.C225C	KLK10_uc002puz.1_Silent_p.C225C|KLK10_uc002pva.1_Silent_p.C225C	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	225	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)												0.213873	160.417889	186.543233	74	272	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	Silent	SNP	56210488	56210488	8712	19	G	A	A	42	42	KLK10	A	2	2
KLK10	5655	broad.mit.edu	36	19	56211195	56211195	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56211195T>C	uc002puy.1	-	c.299A>G	c.(298-300)CAC>CGC	p.H100R	KLK10_uc002puz.1_Missense_Mutation_p.H100R|KLK10_uc002pva.1_Missense_Mutation_p.H100R	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	100	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)												0.470588	24.403022	24.415324	8	9	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	Missense_Mutation	SNP	56211195	56211195	8712	19	T	C	C	59	59	KLK10	C	4	4
KLK10	5655	broad.mit.edu	36	19	56212246	56212246	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56212246G>T	uc002puy.1	-	c.201C>A	c.(199-201)CTC>CTA	p.L67L	KLK10_uc002puz.1_Silent_p.L67L|KLK10_uc002pva.1_Silent_p.L67L	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	67	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)										OREG0025646	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.212121	9.552723	12.152503	7	26	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	Silent	SNP	56212246	56212246	8712	19	G	T	T	33	33	KLK10	T	3	3
KLK11	11012	broad.mit.edu	36	19	56222564	56222564	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56222564G>A	uc002pvd.1	-	c.22C>T	c.(22-24)CGG>TGG	p.R8W	KLK11_uc002pvb.1_5'Flank|KLK11_uc002pvc.2_5'Flank|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_Intron|KLK11_uc010eom.1_5'Flank	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	kallikrein 11 isoform 2 precursor	8					proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)												0.250951	131.560503	146.372438	66	197	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	Missense_Mutation	SNP	56222564	56222564	8713	19	G	A	A	38	38	KLK11	A	1	1
KLK12	43849	broad.mit.edu	36	19	56227032	56227032	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56227032G>A	uc002pvh.1	-	c.369C>T	c.(367-369)AGC>AGT	p.S123S	KLK12_uc002pvi.1_Silent_p.S123S|KLK12_uc002pvj.1_Intron|KLK12_uc002pvk.1_Intron|KLK12_uc002pvg.1_Silent_p.S123S	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 1	123	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)												0.222222	48.936225	57.21389	26	91	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	Silent	SNP	56227032	56227032	8714	19	G	A	A	38	38	KLK12	A	1	1
KLK14	43847	broad.mit.edu	36	19	56274519	56274519	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56274519G>A	uc002pvs.1	-	c.513C>T	c.(511-513)ATC>ATT	p.I171I		NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	kallikrein 14 preproprotein	171	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			skin(1)	1		all_neural(266;0.0199)				GBM(117;2161 2172 2448 22911)								0.28125	42.725995	45.476897	18	46	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	Silent	SNP	56274519	56274519	8716	19	G	A	A	37	37	KLK14	A	1	1
HCN2	610	broad.mit.edu	36	19	564380	564380	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:564380C>T	uc002lpe.1	+	c.1717C>T	c.(1717-1719)CGC>TGC	p.R573C		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	573	cAMP.|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)				Melanoma(145;1175 2427 8056 36306)								0.13986	32.809035	50.716466	20	123	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	564380	564380	7279	19	C	T	T	23	23	HCN2	T	1	1
LONP1	9361	broad.mit.edu	36	19	5645550	5645550	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5645550G>A	uc002mcx.1	-	c.2168C>T	c.(2167-2169)TCG>TTG	p.S723L	LONP1_uc002mcy.1_Missense_Mutation_p.S659L|LONP1_uc010duh.1_Missense_Mutation_p.S464L|LONP1_uc010dui.1_Missense_Mutation_p.S707L|LONP1_uc002mcz.1_Missense_Mutation_p.S527L	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1	723					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0														0.152778	31.458597	48.086291	22	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5645550	5645550	9264	19	G	A	A	37	37	LONP1	A	1	1
LONP1	9361	broad.mit.edu	36	19	5645889	5645889	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5645889G>A	uc002mcx.1	-	c.2037C>T	c.(2035-2037)CGC>CGT	p.R679R	LONP1_uc002mcy.1_Silent_p.R615R|LONP1_uc010duh.1_Silent_p.R420R|LONP1_uc010dui.1_Silent_p.R663R|LONP1_uc002mcz.1_Silent_p.R483R	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1	679					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0														0.21374	54.948936	64.853337	28	103	GG		KEEP	---	---	---	---	capture			Silent	SNP	5645889	5645889	9264	19	G	A	A	38	38	LONP1	A	1	1
C19orf75	284369	broad.mit.edu	36	19	56462469	56462469	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56462469G>A	uc002pwb.1	+	c.441G>A	c.(439-441)AAG>AAA	p.K147K	C19orf75_uc010eov.1_Non-coding_Transcript	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	147						integral to membrane				ovary(1)|pancreas(1)	2														0.254777	195.650403	212.784507	80	234	GG		KEEP	---	---	---	---	capture			Silent	SNP	56462469	56462469	2015	19	G	A	A	33	33	C19orf75	A	2	2
LIM2	3982	broad.mit.edu	36	19	56575304	56575304	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56575304C>T	uc002pwl.1	-	c.611G>A	c.(610-612)CGG>CAG	p.R204Q	LIM2_uc002pwm.1_Missense_Mutation_p.R162Q	NM_030657	NP_085915	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	162	Cytoplasmic (Potential).				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens				0		all_neural(266;0.0529)												0.380282	76.107322	77.000084	27	44	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	Missense_Mutation	SNP	56575304	56575304	9121	19	C	T	T	23	23	LIM2	T	1	1
SIGLEC8	27181	broad.mit.edu	36	19	56647609	56647609	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56647609G>A	uc002pwt.1	-	c.1336C>T	c.(1336-1338)CAT>TAT	p.H446Y	SIGLEC8_uc010eox.1_Missense_Mutation_p.H353Y|SIGLEC8_uc002pwu.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	446	Cytoplasmic (Potential).|ITIM motif.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4		all_neural(266;0.0199)												0.494949	301.24273	301.247075	98	100	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	Missense_Mutation	SNP	56647609	56647609	14809	19	G	A	A	47	47	SIGLEC8	A	2	2
CEACAM18	729767	broad.mit.edu	36	19	56675728	56675728	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56675728G>A	uc002pwv.1	+	c.565G>A	c.(565-567)GGC>AGC	p.G189S		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	189						integral to membrane				skin(1)	1		all_neural(266;0.0529)												0.10596	14.833612	38.083545	16	135	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	Missense_Mutation	SNP	56675728	56675728	3322	19	G	A	A	39	39	CEACAM18	A	1	1
CEACAM18	729767	broad.mit.edu	36	19	56676648	56676648	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56676648G>A	uc002pwv.1	+	c.773G>A	c.(772-774)CGC>CAC	p.R258H		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	258						integral to membrane				skin(1)	1		all_neural(266;0.0529)												0.232759	56.9596	64.551236	27	89	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	Missense_Mutation	SNP	56676648	56676648	3322	19	G	A	A	38	38	CEACAM18	A	1	1
SIGLEC12	89858	broad.mit.edu	36	19	56696392	56696392	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56696392C>A	uc002pwx.1	-	c.408G>T	c.(406-408)CAG>CAT	p.Q136H	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	136	Ig-like V-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)	3		all_neural(266;0.0199)												0.442529	219.541339	220.043591	77	97	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	Missense_Mutation	SNP	56696392	56696392	14803	19	C	A	A	28	28	SIGLEC12	A	3	3
SIGLEC12	89858	broad.mit.edu	36	19	56696756	56696756	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56696756C>A	uc002pwx.1	-	c.44G>T	c.(43-45)AGA>ATA	p.R15I	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	15					cell adhesion	integral to membrane	sugar binding			ovary(3)	3		all_neural(266;0.0199)												0.452055	87.757733	87.904826	33	40	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	Missense_Mutation	SNP	56696756	56696756	14803	19	C	A	A	32	32	SIGLEC12	A	3	3
ZNF175	7728	broad.mit.edu	36	19	56782003	56782003	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56782003G>T	uc002pxb.1	+	c.607G>T	c.(607-609)GAA>TAA	p.E203*		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	203					regulation of transcription, DNA-dependent|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)												0.183784	58.82508	76.202214	34	151	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	Nonsense_Mutation	SNP	56782003	56782003	18336	19	G	T	T	33	33	ZNF175	T	5	3
ZNF175	7728	broad.mit.edu	36	19	56783447	56783447	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56783447C>T	uc002pxb.1	+	c.2051C>T	c.(2050-2052)TCA>TTA	p.S684L		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	684	C2H2-type 15.				regulation of transcription, DNA-dependent|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)												0.253731	74.874499	82.261595	34	100	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	Missense_Mutation	SNP	56783447	56783447	18336	19	C	T	T	29	29	ZNF175	T	2	2
SIGLEC5	8778	broad.mit.edu	36	19	56822988	56822988	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56822988C>T	uc002pxe.1	-	c.908G>A	c.(907-909)CGA>CAA	p.R303Q		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	303	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(1)	2		all_neural(266;0.0726)												0.431925	253.174402	254.032308	92	121	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	Missense_Mutation	SNP	56822988	56822988	14806	19	C	T	T	31	31	SIGLEC5	T	1	1
SIGLEC5	8778	broad.mit.edu	36	19	56824499	56824499	+	Silent	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56824499G>C	uc002pxe.1	-	c.624C>G	c.(622-624)GGC>GGG	p.G208G		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	208	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(1)	2		all_neural(266;0.0726)												0.17931	61.46644	75.491763	26	119	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	Silent	SNP	56824499	56824499	14806	19	G	C	C	46	46	SIGLEC5	C	3	3
SIGLEC5	8778	broad.mit.edu	36	19	56824923	56824923	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56824923C>A	uc002pxe.1	-	c.396G>T	c.(394-396)CAG>CAT	p.Q132H		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	132	Extracellular (Potential).|Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(1)	2		all_neural(266;0.0726)												0.578723	388.494612	389.75852	136	99	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	Missense_Mutation	SNP	56824923	56824923	14806	19	C	A	A	32	32	SIGLEC5	A	3	3
FPR2	2358	broad.mit.edu	36	19	56964125	56964125	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56964125G>A	uc002pxr.1	+	c.402G>A	c.(400-402)CAG>CAA	p.Q134Q	FPR2_uc002pxs.2_Silent_p.Q134Q|FPR2_uc010epf.1_Silent_p.Q134Q|FPR2_uc010epg.1_Silent_p.Q134Q	NM_001005738	NP_001453	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	134	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1														0.2249	123.154615	140.483119	56	193	GG		KEEP	---	---	---	---	capture			Silent	SNP	56964125	56964125	6285	19	G	A	A	33	33	FPR2	A	2	2
FPR3	2359	broad.mit.edu	36	19	57018927	57018927	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57018927C>T	uc002pxt.1	+	c.114C>T	c.(112-114)GTC>GTT	p.V38V	FPR3_uc010eph.1_Silent_p.V38V	NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	38	Helical; Name=1; (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity				0														0.21519	109.283586	127.040457	51	186	CC		KEEP	---	---	---	---	capture			Silent	SNP	57018927	57018927	6286	19	C	T	T	32	32	FPR3	T	2	2
FPR3	2359	broad.mit.edu	36	19	57019534	57019534	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57019534C>T	uc002pxt.1	+	c.721C>T	c.(721-723)CGT>TGT	p.R241C	FPR3_uc010eph.1_Missense_Mutation_p.R241C	NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	241	Cytoplasmic (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity				0														0.424658	169.117796	169.842105	62	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57019534	57019534	6286	19	C	T	T	19	19	FPR3	T	1	1
POLRMT	5442	broad.mit.edu	36	19	570291	570291	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:570291G>A	uc002lpf.1	-	c.3072C>T	c.(3070-3072)TTC>TTT	p.F1024F		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1024	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			pancreas(1)	1		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)												0.402778	229.548468	231.341561	87	129	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	570291	570291	12666	19	G	A	A	37	37	POLRMT	A	1	1
ZNF577	84765	broad.mit.edu	36	19	57068354	57068354	+	Missense_Mutation	SNP	C	A	A	rs9807847	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57068354C>A	uc002pxu.1	-	c.680G>T	c.(679-681)AGA>ATA	p.R227I	ZNF577_uc002pxv.1_Missense_Mutation_p.R227I|ZNF577_uc002pxx.2_Missense_Mutation_p.R168I|ZNF577_uc002pxw.1_Missense_Mutation_p.R168I	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	234	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)												0.525773	139.808948	139.863887	51	46	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	Missense_Mutation	SNP	57068354	57068354	18604	19	C	A	A	32	32	ZNF577	A	3	3
ZNF577	84765	broad.mit.edu	36	19	57072417	57072417	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57072417C>T	uc002pxu.1	-	c.192G>A	c.(190-192)TCG>TCA	p.S64S	ZNF577_uc002pxv.1_Silent_p.S64S|ZNF577_uc002pxx.2_Silent_p.S64S|ZNF577_uc002pxw.1_Silent_p.S64S	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)												0.391026	162.331526	163.956098	61	95	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	Silent	SNP	57072417	57072417	18604	19	C	T	T	27	27	ZNF577	T	1	1
ZNF613	79898	broad.mit.edu	36	19	57140207	57140207	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57140207G>A	uc002pxz.1	+	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	ZNF613_uc002pya.1_Missense_Mutation_p.R384H	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	420	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)												0.442308	191.254856	191.70632	69	87	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	Missense_Mutation	SNP	57140207	57140207	18633	19	G	A	A	40	40	ZNF613	A	1	1
ZNF615	284370	broad.mit.edu	36	19	57189206	57189206	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57189206C>T	uc002pyf.1	-	c.968G>A	c.(967-969)GGA>GAA	p.G323E	ZNF615_uc002pye.1_Missense_Mutation_p.G312E|ZNF615_uc010epi.1_Missense_Mutation_p.G319E|ZNF615_uc002pyg.1_Missense_Mutation_p.G204E|ZNF615_uc002pyh.1_Missense_Mutation_p.G323E	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_neural(266;0.117)												0.190058	129.557941	160.295252	65	277	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	Missense_Mutation	SNP	57189206	57189206	18635	19	C	T	T	30	30	ZNF615	T	2	2
TMEM146	257062	broad.mit.edu	36	19	5723829	5723829	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5723829C>T	uc002mda.1	+	c.1794C>T	c.(1792-1794)ATC>ATT	p.I598I		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146	598	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.453901	357.443018	357.966414	128	154	CC		KEEP	---	---	---	---	capture			Silent	SNP	5723829	5723829	16592	19	C	T	T	31	31	TMEM146	T	1	1
TMEM146	257062	broad.mit.edu	36	19	5729558	5729558	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5729558G>T	uc002mda.1	+	c.2268G>T	c.(2266-2268)AAG>AAT	p.K756N		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146	756	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.359477	136.66542	139.33236	55	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5729558	5729558	16592	19	G	T	T	33	33	TMEM146	T	3	3
ZNF836	162962	broad.mit.edu	36	19	57350171	57350171	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57350171C>A	uc002pyo.2	-	c.2577G>T	c.(2575-2577)GAG>GAT	p.E859D	ZNF836_uc010epl.1_Missense_Mutation_p.E859D	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.492823	276.031433	276.039956	103	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57350171	57350171	18786	19	C	A	A	32	32	ZNF836	A	3	3
ZNF836	162962	broad.mit.edu	36	19	57350526	57350526	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57350526T>G	uc002pyo.2	-	c.2222A>C	c.(2221-2223)CAG>CCG	p.Q741P	ZNF836_uc010epl.1_Missense_Mutation_p.Q741P	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	741	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.503106	256.364436	256.365727	81	80	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57350526	57350526	18786	19	T	G	G	55	55	ZNF836	G	4	4
ZNF836	162962	broad.mit.edu	36	19	57350818	57350818	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57350818C>T	uc002pyo.2	-	c.1930G>A	c.(1930-1932)GGC>AGC	p.G644S	ZNF836_uc010epl.1_Missense_Mutation_p.G644S	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	644	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.229958	265.940423	297.619715	109	365	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57350818	57350818	18786	19	C	T	T	23	23	ZNF836	T	1	1
ZNF836	162962	broad.mit.edu	36	19	57351279	57351279	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57351279C>A	uc002pyo.2	-	c.1469G>T	c.(1468-1470)AGA>ATA	p.R490I	ZNF836_uc010epl.1_Missense_Mutation_p.R490I	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	490	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.280788	127.964444	136.751338	57	146	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57351279	57351279	18786	19	C	A	A	32	32	ZNF836	A	3	3
ZNF836	162962	broad.mit.edu	36	19	57352480	57352480	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57352480C>T	uc002pyo.2	-	c.268G>A	c.(268-270)GAA>AAA	p.E90K	ZNF836_uc010epl.1_Missense_Mutation_p.E90K	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.153846	23.487077	33.916994	14	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57352480	57352480	18786	19	C	T	T	30	30	ZNF836	T	2	2
DUS3L	56931	broad.mit.edu	36	19	5738152	5738152	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5738152G>A	uc002mdc.1	-	c.1309C>T	c.(1309-1311)CGC>TGC	p.R437C	PRR22_uc002mdb.1_5'Flank|DUS3L_uc002mdd.1_Missense_Mutation_p.R195C|DUS3L_uc010duk.1_Missense_Mutation_p.R102C	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like	437					oxidation-reduction process|tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0														0.571429	13.500929	13.532034	4	3	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5738152	5738152	4992	19	G	A	A	39	39	DUS3L	A	1	1
DUS3L	56931	broad.mit.edu	36	19	5741185	5741185	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5741185G>A	uc002mdc.1	-	c.260C>T	c.(259-261)ACG>ATG	p.T87M	DUS3L_uc002mdd.1_Intron|DUS3L_uc010duk.1_De_novo_Start_OutOfFrame	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like	87					oxidation-reduction process|tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0														0.333333	177.536838	183.091036	76	152	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5741185	5741185	4992	19	G	A	A	40	40	DUS3L	A	1	1
PPP2R1A	5518	broad.mit.edu	36	19	57416050	57416050	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57416050C>T	uc002pyp.1	+	c.1370C>T	c.(1369-1371)GCC>GTC	p.A457V	PPP2R1A_uc002pyq.1_Missense_Mutation_p.A278V	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	457	PP2A subunit C binding.|HEAT 12.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(24)|ovary(17)|breast(2)|lung(1)|skin(1)|kidney(1)|pancreas(1)	47														0.391304	190.154589	192.058862	72	112	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	Missense_Mutation	SNP	57416050	57416050	12818	19	C	T	T	26	26	PPP2R1A	T	2	2
POLRMT	5442	broad.mit.edu	36	19	574583	574583	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:574583C>T	uc002lpf.1	-	c.1161G>A	c.(1159-1161)CCG>CCA	p.P387P		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	387					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			pancreas(1)	1		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)												0.251969	73.440971	80.537681	32	95	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	574583	574583	12666	19	C	T	T	31	31	POLRMT	T	1	1
ZNF528	84436	broad.mit.edu	36	19	57610599	57610599	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57610599C>T	uc002pzh.1	+	c.682C>T	c.(682-684)CTT>TTT	p.L228F	ZNF528_uc002pzi.1_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	228	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.167568	55.397501	74.785257	31	154	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	Missense_Mutation	SNP	57610599	57610599	18563	19	C	T	T	28	28	ZNF528	T	2	2
ZNF578	147660	broad.mit.edu	36	19	57705868	57705868	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57705868G>A	uc002pzp.2	+	c.422G>A	c.(421-423)CGA>CAA	p.R141Q		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	51	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.185185	148.389462	188.636453	80	352	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	Missense_Mutation	SNP	57705868	57705868	18605	19	G	A	A	37	37	ZNF578	A	1	1
ZNF808	388558	broad.mit.edu	36	19	57749402	57749402	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57749402G>T	uc010epq.1	+	c.1421G>T	c.(1420-1422)AGA>ATA	p.R474I	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	474	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.403061	208.861759	210.478426	79	117	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	Missense_Mutation	SNP	57749402	57749402	18771	19	G	T	T	33	33	ZNF808	T	3	3
ZNF808	388558	broad.mit.edu	36	19	57749757	57749757	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57749757G>T	uc010epq.1	+	c.1776G>T	c.(1774-1776)GAG>GAT	p.E592D	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.161017	56.479347	82.314065	38	198	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	Missense_Mutation	SNP	57749757	57749757	18771	19	G	T	T	33	33	ZNF808	T	3	3
ZNF701	55762	broad.mit.edu	36	19	57777686	57777686	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57777686A>G	uc002pzs.1	+	c.562A>G	c.(562-564)ATT>GTT	p.I188V		NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						NSCLC(89;451 1475 9611 20673 52284)								0.36129	177.871	180.4902	56	99	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	Missense_Mutation	SNP	57777686	57777686	18700	19	A	G	G	16	16	ZNF701	G	4	4
ZNF701	55762	broad.mit.edu	36	19	57778166	57778166	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57778166C>A	uc002pzs.1	+	c.1042C>A	c.(1042-1044)CAC>AAC	p.H348N		NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	348	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						NSCLC(89;451 1475 9611 20673 52284)								0.189369	105.573318	132.77334	57	244	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	Missense_Mutation	SNP	57778166	57778166	18700	19	C	A	A	29	29	ZNF701	A	3	3
ZNF83	55769	broad.mit.edu	36	19	57808268	57808268	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57808268C>A	uc002pzu.2	-	c.1362G>T	c.(1360-1362)GAG>GAT	p.E454D	ZNF83_uc002pzv.2_Missense_Mutation_p.E454D|ZNF83_uc010eps.1_Missense_Mutation_p.E426D|ZNF83_uc010ept.1_Missense_Mutation_p.E454D|ZNF83_uc010epu.1_Missense_Mutation_p.E454D|ZNF83_uc010epv.1_Missense_Mutation_p.E454D|ZNF83_uc010epw.1_Missense_Mutation_p.E454D|ZNF83_uc010epx.1_Missense_Mutation_p.E426D|ZNF83_uc010epy.1_Missense_Mutation_p.E454D|ZNF83_uc010epz.1_Missense_Mutation_p.E426D|ZNF83_uc010eqa.1_Missense_Mutation_p.E454D	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	454					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.457045	363.414148	363.884675	133	158	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	Missense_Mutation	SNP	57808268	57808268	18782	19	C	A	A	32	32	ZNF83	A	3	3
FUT6	2528	broad.mit.edu	36	19	5782621	5782621	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5782621G>A	uc010dul.1	-	c.958C>T	c.(958-960)CGC>TGC	p.R320C	FUT6_uc002mdf.1_Missense_Mutation_p.R320C|FUT6_uc002mdg.1_Missense_Mutation_p.R320C|FUT6_uc002mdh.1_Missense_Mutation_p.R320C|FUT6_uc010dum.1_Missense_Mutation_p.R320C	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	fucosyltransferase 6	320	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0														0.20625	66.380459	79.187443	33	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5782621	5782621	6359	19	G	A	A	37	37	FUT6	A	1	1
FUT6	2528	broad.mit.edu	36	19	5783268	5783268	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5783268G>A	uc010dul.1	-	c.311C>T	c.(310-312)GCG>GTG	p.A104V	FUT6_uc002mdf.1_Missense_Mutation_p.A104V|FUT6_uc002mdg.1_Missense_Mutation_p.A104V|FUT6_uc002mdh.1_Missense_Mutation_p.A104V|FUT6_uc010dum.1_Missense_Mutation_p.A104V	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	fucosyltransferase 6	104	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0														0.145161	32.265424	54.763179	27	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5783268	5783268	6359	19	G	A	A	38	38	FUT6	A	1	1
ZNF611	81856	broad.mit.edu	36	19	57900095	57900095	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57900095C>A	uc002pzz.1	-	c.2025G>T	c.(2023-2025)GAG>GAT	p.E675D	ZNF611_uc010eqc.1_Non-coding_Transcript|ZNF611_uc002qaa.2_Missense_Mutation_p.E605D	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.211699	148.072847	175.693473	76	283	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	Missense_Mutation	SNP	57900095	57900095	18632	19	C	A	A	32	32	ZNF611	A	3	3
ZNF28	7576	broad.mit.edu	36	19	57995260	57995260	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57995260C>T	uc002qad.1	-	c.1650G>A	c.(1648-1650)CCG>CCA	p.P550P	ZNF28_uc002qac.1_Silent_p.P497P|ZNF28_uc010eqe.1_Silent_p.P496P|ZNF28_uc010eqf.1_Silent_p.P497P	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1														0.225926	128.335976	146.965034	61	209	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	Silent	SNP	57995260	57995260	18405	19	C	T	T	19	19	ZNF28	T	1	1
ZNF28	7576	broad.mit.edu	36	19	57995730	57995730	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57995730G>A	uc002qad.1	-	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C	ZNF28_uc002qac.1_Missense_Mutation_p.R341C|ZNF28_uc010eqe.1_Missense_Mutation_p.R340C|ZNF28_uc010eqf.1_Missense_Mutation_p.R341C	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	394	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1														0.232143	199.809991	225.583425	91	301	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	Missense_Mutation	SNP	57995730	57995730	18405	19	G	A	A	37	37	ZNF28	A	1	1
ZNF320	162967	broad.mit.edu	36	19	58076608	58076608	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58076608C>T	uc002qag.1	-	c.583G>A	c.(583-585)GAC>AAC	p.D195N	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.1_Missense_Mutation_p.D141N|ZNF320_uc002qai.1_Missense_Mutation_p.D195N	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	195	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.37415	145.676901	147.72506	55	92	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.0534)	Missense_Mutation	SNP	58076608	58076608	18431	19	C	T	T	31	31	ZNF320	T	1	1
FUT5	2527	broad.mit.edu	36	19	5818136	5818136	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5818136C>A	uc002mdo.2	-	c.601G>T	c.(601-603)GCC>TCC	p.A201S	FUT5_uc010duo.1_Missense_Mutation_p.A201S|FUT5_uc010dup.1_Missense_Mutation_p.A201S	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	201	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0														0.12931	17.243913	32.767738	15	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5818136	5818136	6358	19	C	A	A	26	26	FUT5	A	3	3
ZNF160	90338	broad.mit.edu	36	19	58263592	58263592	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58263592G>A	uc010eqk.1	-	c.2007C>T	c.(2005-2007)GTC>GTT	p.V669V	ZNF160_uc002qaq.2_Silent_p.V669V|ZNF160_uc002qar.2_Silent_p.V669V	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	669	C2H2-type 15.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.390909	341.867644	345.31716	129	201	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.02)	Silent	SNP	58263592	58263592	18330	19	G	A	A	45	45	ZNF160	A	2	2
ZNF160	90338	broad.mit.edu	36	19	58264112	58264112	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58264112A>C	uc010eqk.1	-	c.1487T>G	c.(1486-1488)CTT>CGT	p.L496R	ZNF160_uc002qaq.2_Missense_Mutation_p.L496R|ZNF160_uc002qar.2_Missense_Mutation_p.L496R	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	496	C2H2-type 9.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.155303	70.470335	100.50137	41	223	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.02)	Missense_Mutation	SNP	58264112	58264112	18330	19	A	C	C	3	3	ZNF160	C	4	4
ZNF160	90338	broad.mit.edu	36	19	58264374	58264374	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58264374G>A	uc010eqk.1	-	c.1225C>T	c.(1225-1227)CGT>TGT	p.R409C	ZNF160_uc002qaq.2_Missense_Mutation_p.R409C|ZNF160_uc002qar.2_Missense_Mutation_p.R409C	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	409	C2H2-type 6.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.227513	179.806149	205.537153	86	292	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.02)	Missense_Mutation	SNP	58264374	58264374	18330	19	G	A	A	37	37	ZNF160	A	1	1
ZNF160	90338	broad.mit.edu	36	19	58264790	58264790	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58264790G>A	uc010eqk.1	-	c.809C>T	c.(808-810)TCG>TTG	p.S270L	ZNF160_uc002qaq.2_Missense_Mutation_p.S270L|ZNF160_uc002qar.2_Missense_Mutation_p.S270L	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	270	C2H2-type 1.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.507645	480.537821	480.554464	166	161	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.02)	Missense_Mutation	SNP	58264790	58264790	18330	19	G	A	A	37	37	ZNF160	A	1	1
ZNF665	79788	broad.mit.edu	36	19	58360794	58360794	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58360794C>A	uc010eqm.1	-	c.761G>T	c.(760-762)AGA>ATA	p.R254I		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	189	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.439474	448.321829	449.541597	167	213	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.0196)	Missense_Mutation	SNP	58360794	58360794	18668	19	C	A	A	32	32	ZNF665	A	3	3
VN1R2	317701	broad.mit.edu	36	19	58454378	58454378	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58454378C>T	uc002qbi.2	+	c.938C>T	c.(937-939)GCC>GTC	p.A313V		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	313	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0														0.423077	360.142852	361.752335	132	180	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00301)	Missense_Mutation	SNP	58454378	58454378	17746	19	C	T	T	26	26	VN1R2	T	2	2
VN1R4	317703	broad.mit.edu	36	19	58462145	58462145	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58462145G>A	uc002qbj.1	-	c.586C>T	c.(586-588)CTC>TTC	p.L196F		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	196	Helical; Name=5; (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2														0.138614	20.570914	33.340642	14	87	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00294)	Missense_Mutation	SNP	58462145	58462145	17747	19	G	A	A	34	34	VN1R4	A	2	2
BIRC8	112401	broad.mit.edu	36	19	58485394	58485394	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58485394A>G	uc002qbk.1	-	c.46T>C	c.(46-48)TAC>CAC	p.Y16H		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	16	BIR.				apoptosis		zinc ion binding			lung(1)	1														0.522989	303.118886	303.199699	91	83	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00304)	Missense_Mutation	SNP	58485394	58485394	1465	19	A	G	G	14	14	BIRC8	G	4	4
ZNF765	91661	broad.mit.edu	36	19	58603576	58603576	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58603576G>A	uc002qbm.1	+	c.956G>A	c.(955-957)AGA>AAA	p.R319K	ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	319	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.22439	108.433118	122.751226	46	159	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00379)	Missense_Mutation	SNP	58603576	58603576	18737	19	G	A	A	33	33	ZNF765	A	2	2
CAPS	828	broad.mit.edu	36	19	5865424	5865424	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5865424G>A	uc002mdt.1	+	c.7G>A	c.(7-9)GCC>ACC	p.A3T	CAPS_uc002mdu.1_Missense_Mutation_p.A3T	NM_004058	NP_004049	Q13938	CAYP1_HUMAN	calcyphosine isoform a	3					intracellular signal transduction	cytoplasm	calcium ion binding				0														0.353234	182.26042	186.079628	71	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5865424	5865424	2756	19	G	A	A	38	38	CAPS	A	1	1
ZNF813	126017	broad.mit.edu	36	19	58681785	58681785	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58681785G>A	uc002qbu.2	+	c.103G>A	c.(103-105)GAC>AAC	p.D35N	ZNF813_uc010eqq.1_Non-coding_Transcript	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1														0.173203	96.820736	127.658665	53	253	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00619)	Missense_Mutation	SNP	58681785	58681785	18773	19	G	A	A	41	41	ZNF813	A	2	2
ZNF813	126017	broad.mit.edu	36	19	58686814	58686814	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58686814C>T	uc002qbu.2	+	c.1516C>T	c.(1516-1518)CGG>TGG	p.R506W	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	506	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1														0.403101	143.370156	144.429992	52	77	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00619)	Missense_Mutation	SNP	58686814	58686814	18773	19	C	T	T	31	31	ZNF813	T	1	1
RANBP3	8498	broad.mit.edu	36	19	5876723	5876723	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5876723G>A	uc002mdw.1	-	c.839C>T	c.(838-840)GCC>GTC	p.A280V	RANBP3_uc002mdx.1_Missense_Mutation_p.A275V|RANBP3_uc002mdz.1_Missense_Mutation_p.A207V|RANBP3_uc010duq.1_Missense_Mutation_p.A185V|RANBP3_uc002mea.1_Missense_Mutation_p.A147V|RANBP3_uc002mdy.1_Missense_Mutation_p.A212V|RANBP3_uc002mdv.1_5'UTR	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	280					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1														0.167488	51.536826	72.822166	34	169	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5876723	5876723	13489	19	G	A	A	42	42	RANBP3	A	2	2
ZNF331	55422	broad.mit.edu	36	19	58772958	58772958	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58772958C>T	uc002qbx.1	+	c.1332C>T	c.(1330-1332)TGC>TGT	p.C444C	ZNF331_uc002qby.1_Silent_p.C444C|ZNF331_uc002qbz.1_Silent_p.C444C|ZNF331_uc002qca.1_Silent_p.C444C|ZNF331_uc010eqr.1_Silent_p.C444C|ZNF331_uc002qcb.1_Silent_p.C444C|ZNF331_uc002qcc.1_Silent_p.C444C|ZNF331_uc002qcd.1_Silent_p.C444C	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	444	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1									p.C444C(HEC59-Tumor)	85				0.197802	34.802384	42.539247	18	73	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00555)	Silent	SNP	58772958	58772958	18441	19	C	T	T	27	27	ZNF331	T	1	1
RANBP3	8498	broad.mit.edu	36	19	5882476	5882476	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5882476G>A	uc002mdw.1	-	c.632C>T	c.(631-633)TCC>TTC	p.S211F	RANBP3_uc002mdx.1_Missense_Mutation_p.S211F|RANBP3_uc002mdz.1_Missense_Mutation_p.S143F|RANBP3_uc010duq.1_Missense_Mutation_p.S121F|RANBP3_uc002mea.1_Missense_Mutation_p.S83F|RANBP3_uc002mdy.1_Missense_Mutation_p.S143F|RANBP3_uc002mdv.1_5'UTR	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	211					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1														0.163399	36.531811	53.117847	25	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5882476	5882476	13489	19	G	A	A	41	41	RANBP3	A	2	2
NLRP12	91662	broad.mit.edu	36	19	58996350	58996350	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58996350C>T	uc002qcj.2	-	c.2702G>A	c.(2701-2703)GGG>GAG	p.G901E	NLRP12_uc010eqw.1_Missense_Mutation_p.G183E|NLRP12_uc002qch.2_Missense_Mutation_p.G900E|NLRP12_uc002qci.2_Missense_Mutation_p.G900E|NLRP12_uc002qck.2_Intron|NLRP12_uc010eqx.1_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	900	LRR 3.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)													0.33945	104.442547	106.925994	37	72	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.026)	Missense_Mutation	SNP	58996350	58996350	10877	19	C	T	T	22	22	NLRP12	T	2	2
NLRP12	91662	broad.mit.edu	36	19	59004904	59004904	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59004904C>A	uc002qcj.2	-	c.1821G>T	c.(1819-1821)CAG>CAT	p.Q607H	NLRP12_uc010eqw.1_5'Flank|NLRP12_uc002qch.2_Missense_Mutation_p.Q607H|NLRP12_uc002qci.2_Missense_Mutation_p.Q607H|NLRP12_uc002qck.2_Non-coding_Transcript|NLRP12_uc010eqx.1_Missense_Mutation_p.Q607H	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	607					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)													0.149573	51.476646	79.036573	35	199	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.026)	Missense_Mutation	SNP	59004904	59004904	10877	19	C	A	A	28	28	NLRP12	A	3	3
NLRP12	91662	broad.mit.edu	36	19	59005825	59005825	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59005825C>T	uc002qcj.2	-	c.900G>A	c.(898-900)AAG>AAA	p.K300K	NLRP12_uc010eqw.1_5'Flank|NLRP12_uc002qch.2_Silent_p.K300K|NLRP12_uc002qci.2_Silent_p.K300K|NLRP12_uc002qck.2_Non-coding_Transcript|NLRP12_uc010eqx.1_Silent_p.K300K	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	300	NACHT.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)													0.528302	168.396865	168.47052	56	50	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.026)	Silent	SNP	59005825	59005825	10877	19	C	T	T	28	28	NLRP12	T	2	2
PRKCG	5582	broad.mit.edu	36	19	59095498	59095498	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59095498G>T	uc002qcq.1	+	c.1387G>T	c.(1387-1389)GAA>TAA	p.E463*		NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	463	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|protein phosphorylation|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)									505				0.289157	54.757387	58.070941	24	59	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.0521)	Nonsense_Mutation	SNP	59095498	59095498	12955	19	G	T	T	33	33	PRKCG	T	5	3
CACNG7	59284	broad.mit.edu	36	19	59107950	59107950	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59107950C>T	uc002qcr.1	+	c.53C>T	c.(52-54)GCG>GTG	p.A18V	CACNG7_uc010era.1_Missense_Mutation_p.A18V	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	18	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)													0.186916	36.738956	46.564603	20	87	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.0711)	Missense_Mutation	SNP	59107950	59107950	2678	19	C	T	T	27	27	CACNG7	T	1	1
NDUFA3	4696	broad.mit.edu	36	19	59301092	59301092	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59301092C>T	uc002qde.1	+	c.125C>T	c.(124-126)TCC>TTC	p.S42F	NDUFA3_uc002qdf.1_Non-coding_Transcript	NM_004542	NP_004533	O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	42					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)					8				0.164319	61.007417	83.787812	35	178	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59301092	59301092	10664	19	C	T	T	30	30	NDUFA3	T	2	2
TMC4	147798	broad.mit.edu	36	19	59359429	59359429	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59359429C>A	uc010erf.1	-	c.1134G>T	c.(1132-1134)GAG>GAT	p.E378D	TMC4_uc002qdn.1_Missense_Mutation_p.D69Y|TMC4_uc002qdo.1_Missense_Mutation_p.E372D	NM_144686	NP_653287	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 2	378	Cytoplasmic (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.458333	147.895933	148.078917	55	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59359429	59359429	16517	19	C	A	A	32	32	TMC4	A	3	3
TMC4	147798	broad.mit.edu	36	19	59363713	59363713	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59363713G>A	uc010erf.1	-	c.811C>T	c.(811-813)CAT>TAT	p.H271Y	TMC4_uc002qdo.1_Missense_Mutation_p.H265Y	NM_144686	NP_653287	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 2	271	Extracellular (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)													0.185185	8.456429	10.968616	5	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59363713	59363713	16517	19	G	A	A	46	46	TMC4	A	2	2
TMC4	147798	broad.mit.edu	36	19	59367649	59367649	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59367649G>T	uc010erf.1	-	c.113C>A	c.(112-114)TCT>TAT	p.S38Y	TMC4_uc002qdo.1_Missense_Mutation_p.S32Y	NM_144686	NP_653287	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 2	38	Extracellular (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)													0.227723	43.470871	50.347422	23	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59367649	59367649	16517	19	G	T	T	33	33	TMC4	T	3	3
TSEN34	79042	broad.mit.edu	36	19	59387998	59387998	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59387998C>T	uc002qdu.1	+	c.707C>T	c.(706-708)GCG>GTG	p.A236V	MBOAT7_uc002qdq.1_5'Flank|MBOAT7_uc002qdr.1_5'Flank|MBOAT7_uc002qds.1_5'Flank|MBOAT7_uc002qdt.2_5'Flank|TSEN34_uc002qdv.1_Missense_Mutation_p.A236V|TSEN34_uc002qdw.1_Missense_Mutation_p.A236V	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	tRNA-intron nuclease 34	236					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity				0	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					Esophageal Squamous(37;841 964 4869 42824)								0.203883	77.724761	94.506286	42	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59387998	59387998	17164	19	C	T	T	27	27	TSEN34	T	1	1
LILRB5	10990	broad.mit.edu	36	19	59451841	59451841	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59451841C>T	uc002qey.1	-	c.532G>A	c.(532-534)GCC>ACC	p.A178T	LILRA6_uc002qew.1_Intron|LILRB5_uc002qex.1_Missense_Mutation_p.A178T|LILRB5_uc002qez.1_Intron|LILRB5_uc002qfa.1_Intron	NM_001081442	NP_001074911	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	178	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)													0.223464	81.067134	93.614154	40	139	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.105)	Missense_Mutation	SNP	59451841	59451841	9120	19	C	T	T	26	26	LILRB5	T	2	2
LILRA5	353514	broad.mit.edu	36	19	59515085	59515085	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59515085C>T	uc002qfe.1	-	c.270G>A	c.(268-270)CAG>CAA	p.Q90Q	LILRA5_uc002qff.1_Silent_p.Q78Q|LILRA5_uc002qfh.1_Silent_p.Q78Q|LILRA5_uc002qfg.1_Silent_p.Q90Q	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	90	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity				0	Ovarian(34;0.19)													0.215645	230.760413	266.093496	102	371	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.105)	Silent	SNP	59515085	59515085	9114	19	C	T	T	32	32	LILRA5	T	2	2
TTYH1	57348	broad.mit.edu	36	19	59618605	59618605	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59618605G>A	uc002qfr.1	+	c.67G>A	c.(67-69)GAC>AAC	p.D23N	TTYH1_uc002qfq.1_Missense_Mutation_p.D23N|TTYH1_uc002qfs.1_Non-coding_Transcript|TTYH1_uc002qft.1_Missense_Mutation_p.D23N	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	tweety 1 isoform 2	23	Extracellular (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)													0.461538	16.045892	16.062849	6	7	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0767)	Missense_Mutation	SNP	59618605	59618605	17294	19	G	A	A	37	37	TTYH1	A	1	1
RFX2	5990	broad.mit.edu	36	19	5967167	5967167	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5967167G>A	uc002meb.1	-	c.713C>T	c.(712-714)GCC>GTC	p.A238V	RFX2_uc002mec.1_Missense_Mutation_p.A213V	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	238	RFX-type winged-helix.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			breast(4)|ovary(1)	5						Colon(38;171 817 19800 47433 48051)								0.613757	342.911316	345.050105	116	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5967167	5967167	13735	19	G	A	A	42	42	RFX2	A	2	2
LILRA1	11024	broad.mit.edu	36	19	59798484	59798484	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59798484C>T	uc002qgh.1	+	c.466C>T	c.(466-468)CTG>TTG	p.L156L		NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	156	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1														0.209974	167.139708	196.862038	80	301	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0348)	Silent	SNP	59798484	59798484	9110	19	C	T	T	32	32	LILRA1	T	2	2
LILRB4	11006	broad.mit.edu	36	19	59869561	59869561	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59869561C>T	uc002qgr.1	+	c.1056C>T	c.(1054-1056)GAC>GAT	p.D352D	LILRB4_uc002qgp.1_Silent_p.D311D|LILRB4_uc002qgq.1_Silent_p.D311D|LILRB4_uc010ert.1_Silent_p.D352D|LILRB4_uc010eru.1_Silent_p.D340D	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3														0.224638	62.141505	71.775275	31	107	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.035)	Silent	SNP	59869561	59869561	9119	19	C	T	T	19	19	LILRB4	T	1	1
FCAR	2204	broad.mit.edu	36	19	60091264	60091264	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60091264G>A	uc002qhr.1	+	c.440G>A	c.(439-441)AGC>AAC	p.S147N	FCAR_uc002qhq.1_Missense_Mutation_p.S147N|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.S120N|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.S147N|FCAR_uc002qhw.1_Missense_Mutation_p.S135N|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.S135N|FCAR_uc002qhz.1_Missense_Mutation_p.S135N|FCAR_uc002qia.1_Missense_Mutation_p.S38N	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	147	Ig-like C2-type 2.|Extracellular (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)	1														0.462687	174.021859	174.185245	62	72	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0443)	Missense_Mutation	SNP	60091264	60091264	6010	19	G	A	A	34	34	FCAR	A	2	2
FCAR	2204	broad.mit.edu	36	19	60091377	60091377	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60091377C>T	uc002qhr.1	+	c.553C>T	c.(553-555)CTC>TTC	p.L185F	FCAR_uc002qhq.1_Missense_Mutation_p.L185F|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.L158F|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.L185F|FCAR_uc002qhw.1_Missense_Mutation_p.L173F|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.L173F|FCAR_uc002qhz.1_Missense_Mutation_p.L173F|FCAR_uc002qia.1_Missense_Mutation_p.L76F	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	185	Ig-like C2-type 2.|Extracellular (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)	1														0.453488	123.322141	123.483088	39	47	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0443)	Missense_Mutation	SNP	60091377	60091377	6010	19	C	T	T	24	24	FCAR	T	2	2
NLRP7	199713	broad.mit.edu	36	19	60133708	60133708	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60133708C>A	uc010esl.1	-	c.2865G>T	c.(2863-2865)GAG>GAT	p.E955D	NLRP7_uc002qig.2_Missense_Mutation_p.E899D|NLRP7_uc002qii.2_Missense_Mutation_p.E927D|NLRP7_uc002qih.2_Missense_Mutation_p.E927D|NLRP7_uc010esk.1_Missense_Mutation_p.E927D	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	927	LRR 8.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3														0.291815	186.905255	197.834887	82	199	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	60133708	60133708	10885	19	C	A	A	32	32	NLRP7	A	3	3
NLRP7	199713	broad.mit.edu	36	19	60137707	60137707	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60137707C>T	uc010esl.1	-	c.2517G>A	c.(2515-2517)AAG>AAA	p.K839K	NLRP7_uc002qig.2_Silent_p.K783K|NLRP7_uc002qii.2_Silent_p.K811K|NLRP7_uc002qih.2_Silent_p.K811K|NLRP7_uc010esk.1_Silent_p.K811K	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	811							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3														0.195745	100.209516	120.494033	46	189	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Silent	SNP	60137707	60137707	10885	19	C	T	T	32	32	NLRP7	T	2	2
NLRP7	199713	broad.mit.edu	36	19	60142408	60142408	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60142408C>T	uc010esl.1	-	c.1675G>A	c.(1675-1677)GCC>ACC	p.A559T	NLRP7_uc002qig.2_Missense_Mutation_p.A531T|NLRP7_uc002qii.2_Missense_Mutation_p.A531T|NLRP7_uc002qih.2_Missense_Mutation_p.A531T|NLRP7_uc010esk.1_Missense_Mutation_p.A531T	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	531							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3														0.19883	71.443745	85.886749	34	137	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	60142408	60142408	10885	19	C	T	T	28	28	NLRP7	T	2	2
NLRP7	199713	broad.mit.edu	36	19	60142635	60142635	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60142635C>T	uc010esl.1	-	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H	NLRP7_uc002qig.2_Missense_Mutation_p.R455H|NLRP7_uc002qii.2_Missense_Mutation_p.R455H|NLRP7_uc002qih.2_Missense_Mutation_p.R455H|NLRP7_uc010esk.1_Missense_Mutation_p.R455H	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	455	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3														0.432692	117.330508	117.7455	45	59	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	60142635	60142635	10885	19	C	T	T	27	27	NLRP7	T	1	1
NLRP7	199713	broad.mit.edu	36	19	60143499	60143499	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60143499C>A	uc010esl.1	-	c.584G>T	c.(583-585)AGG>ATG	p.R195M	NLRP7_uc002qig.2_Missense_Mutation_p.R167M|NLRP7_uc002qii.2_Missense_Mutation_p.R167M|NLRP7_uc002qih.2_Missense_Mutation_p.R167M|NLRP7_uc010esk.1_Missense_Mutation_p.R167M	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	167							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3														0.429612	488.781966	490.567022	177	235	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	60143499	60143499	10885	19	C	A	A	24	24	NLRP7	A	3	3
NLRP2	55655	broad.mit.edu	36	19	60180937	60180937	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60180937A>G	uc002qij.1	+	c.331A>G	c.(331-333)ACA>GCA	p.T111A	NLRP2_uc010esm.1_Non-coding_Transcript|NLRP2_uc010esn.1_Intron|NLRP2_uc010eso.1_Missense_Mutation_p.T111A|NLRP2_uc010esp.1_Missense_Mutation_p.T111A	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	111					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1														0.409091	241.177076	242.445254	72	104	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	Missense_Mutation	SNP	60180937	60180937	10880	19	A	G	G	2	2	NLRP2	G	4	4
NLRP2	55655	broad.mit.edu	36	19	60185469	60185469	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60185469C>A	uc002qij.1	+	c.591C>A	c.(589-591)AAC>AAA	p.N197K	NLRP2_uc010esm.1_Non-coding_Transcript|NLRP2_uc010esn.1_Missense_Mutation_p.N173K|NLRP2_uc010eso.1_Missense_Mutation_p.N194K|NLRP2_uc010esp.1_Missense_Mutation_p.N175K	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	197					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1														0.235484	158.251753	178.072738	73	237	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	Missense_Mutation	SNP	60185469	60185469	10880	19	C	A	A	18	18	NLRP2	A	3	3
NLRP2	55655	broad.mit.edu	36	19	60189383	60189383	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60189383C>T	uc002qij.1	+	c.2254C>T	c.(2254-2256)CGA>TGA	p.R752*	NLRP2_uc010esm.1_Non-coding_Transcript|NLRP2_uc010esn.1_Nonsense_Mutation_p.R728*|NLRP2_uc010eso.1_Nonsense_Mutation_p.R749*|NLRP2_uc010esp.1_Nonsense_Mutation_p.R730*	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	752					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1														0.456	162.55769	162.768634	57	68	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	Nonsense_Mutation	SNP	60189383	60189383	10880	19	C	T	T	31	31	NLRP2	T	5	1
NLRP2	55655	broad.mit.edu	36	19	60193372	60193372	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60193372C>T	uc002qij.1	+	c.2537C>T	c.(2536-2538)TCG>TTG	p.S846L	NLRP2_uc010esm.1_Non-coding_Transcript|NLRP2_uc010esn.1_Missense_Mutation_p.S822L|NLRP2_uc010eso.1_Missense_Mutation_p.S843L|NLRP2_uc010esp.1_Missense_Mutation_p.S824L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	846	LRR 2.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1														0.440945	156.479405	156.865523	56	71	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	Missense_Mutation	SNP	60193372	60193372	10880	19	C	T	T	31	31	NLRP2	T	1	1
RDH13	112724	broad.mit.edu	36	19	60251866	60251866	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60251866C>T	uc002qio.2	-	c.418G>A	c.(418-420)GAG>AAG	p.E140K	RDH13_uc010esr.1_Non-coding_Transcript|RDH13_uc002qip.1_Missense_Mutation_p.E69K	NM_138412	NP_612421	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13	140					oxidation-reduction process		binding|oxidoreductase activity			large_intestine(1)|ovary(1)	2					Vitamin A(DB00162)									0.212766	37.285226	44.543211	20	74	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Missense_Mutation	SNP	60251866	60251866	13661	19	C	T	T	31	31	RDH13	T	1	1
RNF126	55658	broad.mit.edu	36	19	602725	602725	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:602725C>T	uc010drs.1	-	c.329G>A	c.(328-330)AGC>AAC	p.S110N	RNF126_uc002lpi.1_5'UTR	NM_194460	NP_919442	Q9BV68	RN126_HUMAN	ring finger protein 126	110							protein binding|zinc ion binding				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)												0.275862	18.407111	19.707082	8	21	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	602725	602725	13912	19	C	T	T	28	28	RNF126	T	2	2
TNNT1	7138	broad.mit.edu	36	19	60336105	60336105	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60336105C>T	uc002qjb.2	-	c.827G>A	c.(826-828)CGC>CAC	p.R276H	TNNT1_uc002qiz.2_Missense_Mutation_p.R190H|TNNT1_uc002qja.2_Missense_Mutation_p.R190H|TNNT1_uc002qjc.2_Missense_Mutation_p.R260H|TNNT1_uc002qje.2_Missense_Mutation_p.R249H|TNNT1_uc002qjd.2_Missense_Mutation_p.R249H	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	276					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1														0.363636	9.69407	9.875131	4	7	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	Missense_Mutation	SNP	60336105	60336105	16871	19	C	T	T	27	27	TNNT1	T	1	1
C19orf51	352909	broad.mit.edu	36	19	60363185	60363185	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60363185T>C	uc002qjl.1	-	c.1258A>G	c.(1258-1260)ACC>GCC	p.T420A	TNNI3_uc002qjg.2_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.T168A|C19orf51_uc002qji.1_Missense_Mutation_p.T353A|C19orf51_uc002qjj.1_Missense_Mutation_p.T400A|C19orf51_uc002qjk.1_Missense_Mutation_p.T299A	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	hypothetical protein LOC352909	353											0														0.443478	160.908909	161.228435	51	64	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Missense_Mutation	SNP	60363185	60363185	1997	19	T	C	C	58	58	C19orf51	C	4	4
SYT5	6861	broad.mit.edu	36	19	60377732	60377732	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60377732C>T	uc002qjm.1	-	c.925G>A	c.(925-927)GCT>ACT	p.A309T	SYT5_uc002qjn.1_Missense_Mutation_p.A309T|SYT5_uc002qjo.1_Missense_Mutation_p.A308T	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	309	Cytoplasmic (Potential).|C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0														0.220903	209.517404	239.738227	93	328	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	Missense_Mutation	SNP	60377732	60377732	15998	19	C	T	T	28	28	SYT5	T	2	2
PTPRH	5794	broad.mit.edu	36	19	60388834	60388834	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60388834C>A	uc002qjq.1	-	c.2910G>T	c.(2908-2910)GAG>GAT	p.E970D	PTPRH_uc010esv.1_Missense_Mutation_p.E792D	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	970	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)	3		Renal(1328;0.245)												0.227848	38.104717	43.477944	18	61	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	Missense_Mutation	SNP	60388834	60388834	13260	19	C	A	A	28	28	PTPRH	A	3	3
BRSK1	84446	broad.mit.edu	36	19	60492750	60492750	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60492750C>A	uc002qkf.1	+	c.456C>A	c.(454-456)TTC>TTA	p.F152L	BRSK1_uc002qkg.1_Missense_Mutation_p.F136L	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	152	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|protein phosphorylation|response to UV	cell junction|cytoplasm|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)								333				0.201493	46.731047	57.85569	27	107	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	Missense_Mutation	SNP	60492750	60492750	1554	19	C	A	A	32	32	BRSK1	A	3	3
BRSK1	84446	broad.mit.edu	36	19	60506972	60506972	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60506972C>T	uc002qkf.1	+	c.1300C>T	c.(1300-1302)CGA>TGA	p.R434*	BRSK1_uc002qkg.1_Nonsense_Mutation_p.R418*|BRSK1_uc002qkh.1_Nonsense_Mutation_p.R113*	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	434					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|protein phosphorylation|response to UV	cell junction|cytoplasm|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)								333				0.40411	159.990685	161.16456	59	87	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	Nonsense_Mutation	SNP	60506972	60506972	1554	19	C	T	T	23	23	BRSK1	T	5	1
SUV420H2	84787	broad.mit.edu	36	19	60545215	60545215	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60545215G>T	uc002qkj.2	+	c.99G>T	c.(97-99)AAG>AAT	p.K33N	SUV420H2_uc010esx.1_Missense_Mutation_p.K33N|SUV420H2_uc002qkk.1_Missense_Mutation_p.K33N|SUV420H2_uc002qkl.1_5'UTR	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)													0.262032	103.766982	113.367716	49	138	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Missense_Mutation	SNP	60545215	60545215	15935	19	G	T	T	33	33	SUV420H2	T	3	3
TMEM190	147744	broad.mit.edu	36	19	60581014	60581014	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60581014G>A	uc002qkt.1	+	c.253G>A	c.(253-255)GTC>ATC	p.V85I		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190	85	Helical; (Potential).					integral to membrane					0	Breast(117;0.191)													0.169231	35.902641	49.346171	22	108	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Missense_Mutation	SNP	60581014	60581014	16648	19	G	A	A	44	44	TMEM190	A	2	2
NAT14	57106	broad.mit.edu	36	19	60689834	60689834	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60689834T>G	uc002qle.1	+	c.320T>G	c.(319-321)GTG>GGG	p.V107G	SSC5D_uc002qlf.1_5'Flank	NM_020378	NP_065111	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14	107	N-acetyltransferase.				regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	integral to membrane|nucleus	DNA binding|N-acetyltransferase activity|transcription activator activity			central_nervous_system(1)|pancreas(1)	2	Breast(117;0.155)													0.285714	6.547969	6.835853	2	5	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)	Missense_Mutation	SNP	60689834	60689834	10571	19	T	G	G	59	59	NAT14	G	4	4
FIZ1	84922	broad.mit.edu	36	19	60795862	60795862	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60795862G>A	uc002qli.2	-	c.1257C>T	c.(1255-1257)TGC>TGT	p.C419C	FIZ1_uc002qlj.2_Silent_p.C419C	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	419	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0														0.166667	24.572731	34.66633	16	80	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	Silent	SNP	60795862	60795862	6138	19	G	A	A	38	38	FIZ1	A	1	1
FIZ1	84922	broad.mit.edu	36	19	60800815	60800815	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60800815G>A	uc002qli.2	-	c.229C>T	c.(229-231)CGG>TGG	p.R77W	FIZ1_uc002qlj.2_Missense_Mutation_p.R77W|ZNF524_uc002qlk.1_5'Flank	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0														0.531915	134.046016	134.129667	50	44	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	Missense_Mutation	SNP	60800815	60800815	6138	19	G	A	A	38	38	FIZ1	A	1	1
ZNF524	147807	broad.mit.edu	36	19	60805713	60805713	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60805713G>A	uc002qlk.1	+	c.423G>A	c.(421-423)CCG>CCA	p.P141P	FIZ1_uc002qlj.2_5'Flank|ZNF524_uc010eta.1_Silent_p.P141P	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.555556	42.624191	42.696366	15	12	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	Silent	SNP	60805713	60805713	18560	19	G	A	A	38	38	ZNF524	A	1	1
U2AF2	11338	broad.mit.edu	36	19	60872671	60872671	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60872671G>A	uc002qlu.1	+	c.1094G>A	c.(1093-1095)AGC>AAC	p.S365N	U2AF2_uc002qlt.1_Missense_Mutation_p.S361N	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	365					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)												0.381579	71.547787	72.484401	29	47	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	Missense_Mutation	SNP	60872671	60872671	17380	19	G	A	A	34	34	U2AF2	A	2	2
EPN1	29924	broad.mit.edu	36	19	60881868	60881868	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60881868G>A	uc002qlx.1	+	c.396G>A	c.(394-396)GAG>GAA	p.E132E	EPN1_uc002qlv.1_Silent_p.E21E|EPN1_uc002qlw.1_Silent_p.E21E|EPN1_uc010etd.1_Silent_p.E21E	NM_013333	NP_037465	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform c	21	ENTH.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)												0.148148	13.560812	19.983297	8	46	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.112)	Silent	SNP	60881868	60881868	5378	19	G	A	A	33	33	EPN1	A	2	2
NLRP9	338321	broad.mit.edu	36	19	60920034	60920034	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60920034G>A	uc002qly.1	-	c.2202C>T	c.(2200-2202)ATC>ATT	p.I734I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	734						cytoplasm	ATP binding			ovary(2)|skin(2)|breast(1)	5		Colorectal(82;0.000133)|Ovarian(87;0.133)												0.502674	270.361245	270.362611	94	93	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.123)	Silent	SNP	60920034	60920034	10887	19	G	A	A	37	37	NLRP9	A	1	1
NLRP9	338321	broad.mit.edu	36	19	60935500	60935500	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60935500G>T	uc002qly.1	-	c.1509C>A	c.(1507-1509)ATC>ATA	p.I503I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	503						cytoplasm	ATP binding			ovary(2)|skin(2)|breast(1)	5		Colorectal(82;0.000133)|Ovarian(87;0.133)												0.427562	349.318006	350.614858	121	162	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.123)	Silent	SNP	60935500	60935500	10887	19	G	T	T	37	37	NLRP9	T	3	3
NLRP9	338321	broad.mit.edu	36	19	60936261	60936261	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60936261G>A	uc002qly.1	-	c.748C>T	c.(748-750)CGG>TGG	p.R250W		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	250	NACHT.					cytoplasm	ATP binding			ovary(2)|skin(2)|breast(1)	5		Colorectal(82;0.000133)|Ovarian(87;0.133)												0.527778	152.360082	152.432605	57	51	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.123)	Missense_Mutation	SNP	60936261	60936261	10887	19	G	A	A	38	38	NLRP9	A	1	1
NLRP9	338321	broad.mit.edu	36	19	60936403	60936403	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60936403G>T	uc002qly.1	-	c.606C>A	c.(604-606)CTC>CTA	p.L202L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	202	NACHT.					cytoplasm	ATP binding			ovary(2)|skin(2)|breast(1)	5		Colorectal(82;0.000133)|Ovarian(87;0.133)												0.384615	64.352311	65.113334	25	40	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.123)	Silent	SNP	60936403	60936403	10887	19	G	T	T	33	33	NLRP9	T	3	3
NLRP11	204801	broad.mit.edu	36	19	60992117	60992117	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60992117G>T	uc002qma.1	-	c.2723C>A	c.(2722-2724)TCT>TAT	p.S908Y	NLRP11_uc002qlz.1_Missense_Mutation_p.S755Y|NLRP11_uc002qmb.1_Missense_Mutation_p.S809Y|NLRP11_uc002qmc.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	908							ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)												0.188811	44.426054	57.404634	27	116	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	60992117	60992117	10876	19	G	T	T	33	33	NLRP11	T	3	3
NLRP11	204801	broad.mit.edu	36	19	61004835	61004835	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61004835T>C	uc002qma.1	-	c.2086A>G	c.(2086-2088)ATC>GTC	p.I696V	NLRP11_uc002qlz.1_Missense_Mutation_p.I543V|NLRP11_uc002qmb.1_Missense_Mutation_p.I597V|NLRP11_uc002qmc.1_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	696							ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)												0.497561	344.05224	344.053206	102	103	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	61004835	61004835	10876	19	T	C	C	49	49	NLRP11	C	4	4
NLRP11	204801	broad.mit.edu	36	19	61012737	61012737	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61012737G>A	uc002qma.1	-	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	NLRP11_uc002qlz.1_Missense_Mutation_p.R252W|NLRP11_uc002qmb.1_Missense_Mutation_p.R252W|NLRP11_uc002qmc.1_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	351	NACHT.						ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)												0.256757	84.375171	92.31989	38	110	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	61012737	61012737	10876	19	G	A	A	38	38	NLRP11	A	1	1
NLRP11	204801	broad.mit.edu	36	19	61012829	61012829	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61012829G>A	uc002qma.1	-	c.959C>T	c.(958-960)TCG>TTG	p.S320L	NLRP11_uc002qlz.1_Missense_Mutation_p.S221L|NLRP11_uc002qmb.1_Missense_Mutation_p.S221L|NLRP11_uc002qmc.1_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	320	NACHT.						ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)												0.218487	51.94717	60.688943	26	93	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	61012829	61012829	10876	19	G	A	A	37	37	NLRP11	A	1	1
NLRP4	147945	broad.mit.edu	36	19	61061271	61061271	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61061271G>A	uc002qmd.2	+	c.700G>A	c.(700-702)GAA>AAA	p.E234K	NLRP4_uc002qme.1_Missense_Mutation_p.E234K|NLRP4_uc002qmf.1_Missense_Mutation_p.E159K|NLRP4_uc010etf.1_Missense_Mutation_p.E65K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	234	NACHT.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)												0.660517	530.022262	536.18032	179	92	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0606)	Missense_Mutation	SNP	61061271	61061271	10882	19	G	A	A	37	37	NLRP4	A	1	1
NLRP4	147945	broad.mit.edu	36	19	61071001	61071001	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61071001G>A	uc002qmd.2	+	c.2301G>A	c.(2299-2301)GTG>GTA	p.V767V	NLRP4_uc002qme.1_Silent_p.V767V|NLRP4_uc002qmf.1_Silent_p.V692V|NLRP4_uc010etf.1_Intron	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	767	LRR 4.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)												0.252747	95.343278	105.464576	46	136	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0606)	Silent	SNP	61071001	61071001	10882	19	G	A	A	46	46	NLRP4	A	2	2
NLRP4	147945	broad.mit.edu	36	19	61080329	61080329	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61080329G>A	uc002qmd.2	+	c.2681G>A	c.(2680-2682)CGC>CAC	p.R894H	NLRP4_uc002qme.1_Missense_Mutation_p.R894H|NLRP4_uc002qmf.1_Missense_Mutation_p.R819H|NLRP4_uc010etf.1_Missense_Mutation_p.R669H	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	894							ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)												0.222772	87.153744	101.451966	45	157	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0606)	Missense_Mutation	SNP	61080329	61080329	10882	19	G	A	A	38	38	NLRP4	A	1	1
NLRP13	126204	broad.mit.edu	36	19	61128200	61128200	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61128200G>A	uc002qmg.1	-	c.333C>T	c.(331-333)ACC>ACT	p.T111T		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	111							ATP binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)												0.180851	71.44093	89.439916	34	154	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0642)	Silent	SNP	61128200	61128200	10878	19	G	A	A	43	43	NLRP13	A	2	2
NLRP8	126205	broad.mit.edu	36	19	61151145	61151145	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61151145C>A	uc002qmh.1	+	c.65C>A	c.(64-66)TCT>TAT	p.S22Y	NLRP8_uc010etg.1_Missense_Mutation_p.S22Y	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	22						cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)												0.402827	299.561859	301.906602	114	169	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0695)	Missense_Mutation	SNP	61151145	61151145	10886	19	C	A	A	32	32	NLRP8	A	3	3
NLRP8	126205	broad.mit.edu	36	19	61151369	61151369	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61151369G>A	uc002qmh.1	+	c.289G>A	c.(289-291)GCT>ACT	p.A97T	NLRP8_uc010etg.1_Missense_Mutation_p.A97T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	97	DAPIN.					cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)												0.255102	55.6333	60.963864	25	73	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0695)	Missense_Mutation	SNP	61151369	61151369	10886	19	G	A	A	38	38	NLRP8	A	1	1
NLRP8	126205	broad.mit.edu	36	19	61157701	61157701	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61157701G>A	uc002qmh.1	+	c.465G>A	c.(463-465)TCG>TCA	p.S155S	NLRP8_uc010etg.1_Silent_p.S155S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	155						cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)												0.261146	92.451254	100.529977	41	116	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0695)	Silent	SNP	61157701	61157701	10886	19	G	A	A	37	37	NLRP8	A	1	1
NLRP8	126205	broad.mit.edu	36	19	61157865	61157865	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61157865G>A	uc002qmh.1	+	c.629G>A	c.(628-630)GGA>GAA	p.G210E	NLRP8_uc010etg.1_Missense_Mutation_p.G210E	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	210	ATP (Potential).|NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)												0.47	270.909205	271.067504	94	106	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0695)	Missense_Mutation	SNP	61157865	61157865	10886	19	G	A	A	41	41	NLRP8	A	2	2
NLRP8	126205	broad.mit.edu	36	19	61182628	61182628	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61182628G>A	uc002qmh.1	+	c.2933G>A	c.(2932-2934)CGC>CAC	p.R978H	NLRP8_uc010etg.1_Missense_Mutation_p.R959H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	978						cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)												0.466899	361.816838	362.07771	134	153	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0695)	Missense_Mutation	SNP	61182628	61182628	10886	19	G	A	A	38	38	NLRP8	A	1	1
NLRP5	126206	broad.mit.edu	36	19	61207075	61207075	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61207075G>A	uc002qmj.1	+	c.244G>A	c.(244-246)GAA>AAA	p.E82K	NLRP5_uc002qmi.1_Missense_Mutation_p.E82K	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	82	DAPIN.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)												0.21875	87.333616	101.342259	42	150	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0326)	Missense_Mutation	SNP	61207075	61207075	10883	19	G	A	A	41	41	NLRP5	A	2	2
NLRP5	126206	broad.mit.edu	36	19	61207237	61207237	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61207237C>T	uc002qmj.1	+	c.406C>T	c.(406-408)CGA>TGA	p.R136*	NLRP5_uc002qmi.1_Nonsense_Mutation_p.R136*	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	136	DAPIN.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)												0.182432	47.630213	61.656684	27	121	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0326)	Nonsense_Mutation	SNP	61207237	61207237	10883	19	C	T	T	27	27	NLRP5	T	5	1
NLRP5	126206	broad.mit.edu	36	19	61230372	61230372	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61230372G>A	uc002qmj.1	+	c.961G>A	c.(961-963)GTT>ATT	p.V321I	NLRP5_uc002qmi.1_Missense_Mutation_p.V302I	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	321	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)												0.290323	19.051861	20.280931	9	22	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0326)	Missense_Mutation	SNP	61230372	61230372	10883	19	G	A	A	40	40	NLRP5	A	1	1
NLRP5	126206	broad.mit.edu	36	19	61230882	61230882	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61230882G>A	uc002qmj.1	+	c.1471G>A	c.(1471-1473)GTC>ATC	p.V491I	NLRP5_uc002qmi.1_Missense_Mutation_p.V472I	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	491	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)												0.405405	77.237039	77.814586	30	44	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0326)	Missense_Mutation	SNP	61230882	61230882	10883	19	G	A	A	40	40	NLRP5	A	1	1
NLRP5	126206	broad.mit.edu	36	19	61231094	61231094	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61231094C>T	uc002qmj.1	+	c.1683C>T	c.(1681-1683)CTC>CTT	p.L561L	NLRP5_uc002qmi.1_Silent_p.L542L	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	561	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)												0.220339	26.738998	30.992449	13	46	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0326)	Silent	SNP	61231094	61231094	10883	19	C	T	T	30	30	NLRP5	T	2	2
NLRP5	126206	broad.mit.edu	36	19	61235852	61235852	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61235852C>T	uc002qmj.1	+	c.2340C>T	c.(2338-2340)CAC>CAT	p.H780H	NLRP5_uc002qmi.1_Silent_p.H761H	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	780	LRR 3.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)												0.198276	41.553308	51.393303	23	93	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0326)	Silent	SNP	61235852	61235852	10883	19	C	T	T	18	18	NLRP5	T	2	2
ACSBG2	81616	broad.mit.edu	36	19	6141616	6141616	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6141616G>T	uc002mef.1	+	c.1949G>T	c.(1948-1950)AGA>ATA	p.R650I	ACSBG2_uc002mee.1_Missense_Mutation_p.R463I|ACSBG2_uc002meg.1_Missense_Mutation_p.R650I|ACSBG2_uc002meh.1_Missense_Mutation_p.R650I|ACSBG2_uc002mei.1_Missense_Mutation_p.R600I	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum related protein	650					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1														0.151515	46.426494	73.383491	35	196	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6141616	6141616	175	19	G	T	T	33	33	ACSBG2	T	3	3
ZSCAN5A	79149	broad.mit.edu	36	19	61425016	61425016	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61425016G>A	uc002qmq.1	-	c.1231C>T	c.(1231-1233)CCC>TCC	p.P411S	ZSCAN5A_uc002qmr.1_Missense_Mutation_p.P411S|ZSCAN5A_uc002qms.1_Missense_Mutation_p.P410S	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	411					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.39759	84.329805	85.09853	33	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61425016	61425016	18842	19	G	A	A	42	42	ZSCAN5A	A	2	2
ZSCAN5A	79149	broad.mit.edu	36	19	61425085	61425085	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61425085G>T	uc002qmq.1	-	c.1162C>A	c.(1162-1164)CTC>ATC	p.L388I	ZSCAN5A_uc002qmr.1_Missense_Mutation_p.L388I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.L387I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	388	C2H2-type 2.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.355932	51.751096	52.833009	21	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61425085	61425085	18842	19	G	T	T	33	33	ZSCAN5A	T	3	3
ZSCAN5A	79149	broad.mit.edu	36	19	61427857	61427857	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61427857C>A	uc002qmq.1	-	c.371G>T	c.(370-372)AGA>ATA	p.R124I	ZSCAN5A_uc002qmr.1_Missense_Mutation_p.R124I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.R124I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	124	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.155556	30.777606	46.088164	21	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61427857	61427857	18842	19	C	A	A	32	32	ZSCAN5A	A	3	3
ZNF583	147949	broad.mit.edu	36	19	61626393	61626393	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61626393A>G	uc002qnc.1	+	c.554A>G	c.(553-555)AAG>AGG	p.K185R		NM_152478	NP_689691	Q96ND8	ZN583_HUMAN	zinc finger protein 583	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)												0.23622	177.974731	194.126315	60	194	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0564)	Missense_Mutation	SNP	61626393	61626393	18610	19	A	G	G	3	3	ZNF583	G	4	4
ZNF471	57573	broad.mit.edu	36	19	61728011	61728011	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61728011A>G	uc002qnh.1	+	c.763A>G	c.(763-765)ACA>GCA	p.T255A		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	255	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)				Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)								0.167742	123.611839	156.026961	52	258	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0307)	Missense_Mutation	SNP	61728011	61728011	18524	19	A	G	G	2	2	ZNF471	G	4	4
ZNF471	57573	broad.mit.edu	36	19	61728481	61728481	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61728481C>A	uc002qnh.1	+	c.1233C>A	c.(1231-1233)ACC>ACA	p.T411T		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	411	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)				Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)								0.195402	63.735882	78.802816	34	140	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0307)	Silent	SNP	61728481	61728481	18524	19	C	A	A	24	24	ZNF471	A	3	3
ZNF471	57573	broad.mit.edu	36	19	61728708	61728708	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61728708A>G	uc002qnh.1	+	c.1460A>G	c.(1459-1461)TAT>TGT	p.Y487C		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	487	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)				Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)								0.467066	257.047893	257.204106	78	89	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0307)	Missense_Mutation	SNP	61728708	61728708	18524	19	A	G	G	16	16	ZNF471	G	4	4
OR4F17	81099	broad.mit.edu	36	19	61740	61740	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61740T>G	uc002loc.1	+	c.62T>G	c.(61-63)TTT>TGT	p.F21C	OR4F17_uc002lob.1_Missense_Mutation_p.F21C	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F,	21	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)												0.09396	60.094901	183.509376	70	675	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	61740	61740	11470	19	T	G	G	64	64	OR4F17	G	4	4
ZFP28	140612	broad.mit.edu	36	19	61758271	61758271	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61758271C>T	uc002qnj.1	+	c.2305C>T	c.(2305-2307)CGT>TGT	p.R769C		NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	769	C2H2-type 13.			Missing (in Ref. 4).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)				Ovarian(124;554 1662 19430 21141 52494)								0.247312	103.463214	114.270809	46	140	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0302)	Missense_Mutation	SNP	61758271	61758271	18230	19	C	T	T	31	31	ZFP28	T	1	1
ZNF470	388566	broad.mit.edu	36	19	61780665	61780665	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61780665C>T	uc002qnl.2	+	c.1056C>T	c.(1054-1056)TGC>TGT	p.C352C	ZNF470_uc010etn.1_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	352	C2H2-type 5.				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)												0.192053	59.178385	72.562496	29	122	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0294)	Silent	SNP	61780665	61780665	18523	19	C	T	T	28	28	ZNF470	T	2	2
MLLT1	4298	broad.mit.edu	36	19	6181694	6181694	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6181694C>T	uc002mek.1	-	c.307G>A	c.(307-309)GAC>AAC	p.D103N		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	103	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding|RNA polymerase II transcription factor activity			skin(1)	1										190				0.163534	143.100579	200.325873	87	445	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6181694	6181694	10015	19	C	T	T	31	31	MLLT1	T	1	1
ZNF835	90485	broad.mit.edu	36	19	61866898	61866898	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61866898C>A	uc002qno.1	-	c.1547G>T	c.(1546-1548)AGG>ATG	p.R516M		NM_001005850	NP_001005850	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	516	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(3)|skin(1)	4														0.158416	98.734753	143.688756	64	340	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61866898	61866898	18785	19	C	A	A	24	24	ZNF835	A	3	3
ZNF835	90485	broad.mit.edu	36	19	61868303	61868303	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61868303C>T	uc002qno.1	-	c.142G>A	c.(142-144)GAC>AAC	p.D48N		NM_001005850	NP_001005850	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(3)|skin(1)	4														0.427632	179.030312	179.727948	65	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61868303	61868303	18785	19	C	T	T	30	30	ZNF835	T	2	2
PEG3	5178	broad.mit.edu	36	19	62017139	62017139	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62017139C>T	uc002qnu.1	-	c.4483G>A	c.(4483-4485)GAT>AAT	p.D1495N	ZIM2_uc010etp.1_Intron|ZIM2_uc002qnq.1_Intron|ZIM2_uc002qnr.1_Intron|PEG3_uc010etq.1_5'Flank|PEG3_uc002qnt.1_Missense_Mutation_p.D1466N|PEG3_uc002qnv.1_Missense_Mutation_p.D1495N|PEG3_uc010etr.1_Missense_Mutation_p.D1495N|PEG3_uc002qnw.1_Missense_Mutation_p.D1371N|PEG3_uc002qnx.1_Missense_Mutation_p.D1369N	NM_006210	NP_006201	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1495	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)												0.20178	140.292865	168.166869	68	269	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0269)	Missense_Mutation	SNP	62017139	62017139	12141	19	C	T	T	32	32	PEG3	T	2	2
PEG3	5178	broad.mit.edu	36	19	62027688	62027688	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62027688G>A	uc002qnu.1	-	c.148C>T	c.(148-150)CGG>TGG	p.R50W	ZIM2_uc010etp.1_5'UTR|ZIM2_uc002qnq.1_Intron|ZIM2_uc002qnr.1_Intron|PEG3_uc002qnt.1_Missense_Mutation_p.R50W|PEG3_uc002qnv.1_Missense_Mutation_p.R50W|PEG3_uc010etr.1_Missense_Mutation_p.R50W|PEG3_uc002qnw.1_Intron|PEG3_uc002qnx.1_Intron	NM_006210	NP_006201	Q9GZU2	PEG3_HUMAN	paternally expressed 3	50	SCAN box.				apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)												0.216346	95.661363	111.103048	45	163	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0269)	Missense_Mutation	SNP	62027688	62027688	12141	19	G	A	A	37	37	PEG3	A	1	1
USP29	57663	broad.mit.edu	36	19	62333955	62333955	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62333955C>T	uc002qny.1	+	c.2100C>T	c.(2098-2100)TTC>TTT	p.F700F	USP29_uc010etu.1_Silent_p.F700F	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific protease 29	700					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)												0.275591	83.810533	89.545754	35	92	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Silent	SNP	62333955	62333955	17623	19	C	T	T	31	31	USP29	T	1	1
ZIM3	114026	broad.mit.edu	36	19	62338577	62338577	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62338577T>G	uc002qnz.1	-	c.940A>C	c.(940-942)AAG>CAG	p.K314Q		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	314	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)												0.472851	712.165393	712.447192	209	233	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Missense_Mutation	SNP	62338577	62338577	18276	19	T	G	G	64	64	ZIM3	G	4	4
ZNF264	9422	broad.mit.edu	36	19	62415219	62415219	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62415219C>A	uc002qob.1	+	c.942C>A	c.(940-942)TCC>TCA	p.S314S		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)												0.175325	46.530127	61.844861	27	127	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	Silent	SNP	62415219	62415219	18396	19	C	A	A	24	24	ZNF264	A	3	3
ZNF264	9422	broad.mit.edu	36	19	62415533	62415533	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62415533G>A	uc002qob.1	+	c.1256G>A	c.(1255-1257)CGG>CAG	p.R419Q		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	419	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)												0.185484	49.757655	61.251868	23	101	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	Missense_Mutation	SNP	62415533	62415533	18396	19	G	A	A	39	39	ZNF264	A	1	1
ZNF264	9422	broad.mit.edu	36	19	62415637	62415637	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62415637C>T	uc002qob.1	+	c.1360C>T	c.(1360-1362)CCT>TCT	p.P454S		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)												0.256198	70.261631	76.789546	31	90	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	Missense_Mutation	SNP	62415637	62415637	18396	19	C	T	T	26	26	ZNF264	T	2	2
AURKC	6795	broad.mit.edu	36	19	62435734	62435734	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62435734C>A	uc002qoe.1	+	c.309C>A	c.(307-309)ATC>ATA	p.I103I	AURKC_uc002qoc.1_Silent_p.I84I|AURKC_uc002qod.1_Silent_p.I69I|AURKC_uc010etv.1_Silent_p.I100I	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	103	Protein kinase.				cell cycle|cytokinesis|protein phosphorylation	centrosome|nucleus	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)								92				0.213768	114.952495	135.868144	59	217	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	Silent	SNP	62435734	62435734	1245	19	C	A	A	30	30	AURKC	A	3	3
ZNF460	10794	broad.mit.edu	36	19	62494946	62494946	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62494946C>T	uc002qog.2	+	c.1225C>T	c.(1225-1227)CGA>TGA	p.R409*		NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	409	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)												0.238462	68.258	76.382542	31	99	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Nonsense_Mutation	SNP	62494946	62494946	18517	19	C	T	T	31	31	ZNF460	T	5	1
ZNF460	10794	broad.mit.edu	36	19	62495173	62495173	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62495173C>T	uc002qog.2	+	c.1452C>T	c.(1450-1452)GCC>GCT	p.A484A		NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	484	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)												0.187166	74.00743	91.155279	35	152	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Silent	SNP	62495173	62495173	18517	19	C	T	T	24	24	ZNF460	T	2	2
ZNF543	125919	broad.mit.edu	36	19	62531220	62531220	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62531220G>A	uc002qoi.1	+	c.578G>A	c.(577-579)CGC>CAC	p.R193H		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)												0.206897	85.533357	101.702399	42	161	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	Missense_Mutation	SNP	62531220	62531220	18571	19	G	A	A	38	38	ZNF543	A	1	1
ACER1	125981	broad.mit.edu	36	19	6258217	6258217	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6258217A>G	uc002mel.1	-	c.573T>C	c.(571-573)CGT>CGC	p.R191R		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	N-acylsphingosine amidohydrolase 3	191	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ceramidase activity				0														0.185567	79.681991	97.682363	36	158	AA		KEEP	---	---	---	---	capture			Silent	SNP	6258217	6258217	139	19	A	G	G	10	10	ACER1	G	4	4
ZNF548	147694	broad.mit.edu	36	19	62602754	62602754	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62602754C>A	uc002qon.1	+	c.1296C>A	c.(1294-1296)TTC>TTA	p.F432L	ZNF548_uc002qom.1_Missense_Mutation_p.F429L	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	429	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)												0.504065	170.03033	170.031918	62	61	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Missense_Mutation	SNP	62602754	62602754	18575	19	C	A	A	32	32	ZNF548	A	3	3
ACER1	125981	broad.mit.edu	36	19	6263484	6263484	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6263484G>A	uc002mel.1	-	c.120C>T	c.(118-120)TTC>TTT	p.F40F		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	N-acylsphingosine amidohydrolase 3	40	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ceramidase activity				0														0.169231	76.635653	103.571574	44	216	GG		KEEP	---	---	---	---	capture			Silent	SNP	6263484	6263484	139	19	G	A	A	37	37	ACER1	A	1	1
ZNF749	388567	broad.mit.edu	36	19	62648188	62648188	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62648188C>A	uc002qoq.2	+	c.1860C>A	c.(1858-1860)TTC>TTA	p.F620L		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	620	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)												0.22293	71.628029	82.725459	35	122	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	Missense_Mutation	SNP	62648188	62648188	18729	19	C	A	A	32	32	ZNF749	A	3	3
VN1R1	57191	broad.mit.edu	36	19	62659450	62659450	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62659450T>G	uc002qos.1	-	c.217A>C	c.(217-219)ATT>CTT	p.I73L		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	73	Helical; Name=1; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)												0.177966	44.142517	55.63893	21	97	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	Missense_Mutation	SNP	62659450	62659450	17745	19	T	G	G	52	52	VN1R1	G	4	4
ZNF549	256051	broad.mit.edu	36	19	62741209	62741209	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62741209G>A	uc002qpb.1	+	c.1025G>A	c.(1024-1026)CGC>CAC	p.R342H	ZNF549_uc002qpa.1_Missense_Mutation_p.R329H|ZNF549_uc010eud.1_Intron	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	342	C2H2-type 5.				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)												0.439791	226.158955	226.763963	84	107	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Missense_Mutation	SNP	62741209	62741209	18576	19	G	A	A	38	38	ZNF549	A	1	1
ZNF416	55659	broad.mit.edu	36	19	62775963	62775963	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62775963C>T	uc002qpf.1	-	c.1121G>A	c.(1120-1122)AGA>AAA	p.R374K		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	374	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)												0.405797	326.636238	328.779343	112	164	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	Missense_Mutation	SNP	62775963	62775963	18486	19	C	T	T	32	32	ZNF416	T	2	2
ZIK1	284307	broad.mit.edu	36	19	62793242	62793242	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62793242C>A	uc002qpg.1	+	c.251C>A	c.(250-252)TCT>TAT	p.S84Y	ZIK1_uc002qph.1_Missense_Mutation_p.S29Y|ZIK1_uc002qpi.1_Missense_Mutation_p.S71Y|ZIK1_uc002qpj.1_De_novo_Start_OutOfFrame	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)												0.308411	78.243821	81.740145	33	74	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	Missense_Mutation	SNP	62793242	62793242	18274	19	C	A	A	32	32	ZIK1	A	3	3
ZIK1	284307	broad.mit.edu	36	19	62794201	62794201	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62794201G>T	uc002qpg.1	+	c.1210G>T	c.(1210-1212)GAA>TAA	p.E404*	ZIK1_uc002qph.1_Nonsense_Mutation_p.E349*|ZIK1_uc002qpi.1_Nonsense_Mutation_p.E391*|ZIK1_uc002qpj.1_Nonsense_Mutation_p.E301*	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)												0.213675	49.702776	58.571373	25	92	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	Nonsense_Mutation	SNP	62794201	62794201	18274	19	G	T	T	33	33	ZIK1	T	5	3
ZNF530	348327	broad.mit.edu	36	19	62807485	62807485	+	Missense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62807485C>G	uc002qpk.2	+	c.59C>G	c.(58-60)GCC>GGC	p.A20G	ZNF530_uc002qpl.2_Non-coding_Transcript|ZNF530_uc002qpm.2_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)												0.217647	194.954827	220.082606	74	266	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	Missense_Mutation	SNP	62807485	62807485	18565	19	C	G	G	26	26	ZNF530	G	3	3
ZNF211	10520	broad.mit.edu	36	19	62844485	62844485	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62844485T>G	uc002qps.1	+	c.1014T>G	c.(1012-1014)ATT>ATG	p.I338M	ZNF211_uc002qpp.1_Missense_Mutation_p.I286M|ZNF211_uc002qpq.1_Missense_Mutation_p.I273M|ZNF211_uc002qpr.1_Missense_Mutation_p.I337M|ZNF211_uc002qpt.1_Missense_Mutation_p.I285M	NM_006385	NP_006376	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 1	273	C2H2-type 2.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)												0.475472	434.950007	435.087569	126	139	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Missense_Mutation	SNP	62844485	62844485	18358	19	T	G	G	62	62	ZNF211	G	4	4
ZNF551	90233	broad.mit.edu	36	19	62890044	62890044	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62890044G>A	uc002qpw.2	+	c.541G>A	c.(541-543)GAA>AAA	p.E181K	ZNF776_uc002qpx.2_Intron|ZNF551_uc002qpv.2_Missense_Mutation_p.E124K	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	197					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)|Breast(46;0.147)|Ovarian(87;0.156)												0.233766	75.608104	85.626562	36	118	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	Missense_Mutation	SNP	62890044	62890044	18578	19	G	A	A	37	37	ZNF551	A	1	1
ZNF551	90233	broad.mit.edu	36	19	62891279	62891279	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62891279T>C	uc002qpw.2	+	c.1776T>C	c.(1774-1776)GGT>GGC	p.G592G	ZNF776_uc002qpx.2_Intron|ZNF551_uc002qpv.2_Silent_p.G535G	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	608	C2H2-type 12.				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)|Breast(46;0.147)|Ovarian(87;0.156)												0.227451	151.630574	169.007334	58	197	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	Silent	SNP	62891279	62891279	18578	19	T	C	C	58	58	ZNF551	C	4	4
ZNF776	284309	broad.mit.edu	36	19	62956627	62956627	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62956627G>A	uc002qpx.2	+	c.317G>A	c.(316-318)GGA>GAA	p.G106E	ZNF587_uc002qqb.1_Intron|ZNF776_uc002qqa.1_Missense_Mutation_p.G106E|ZNF776_uc002qqc.1_Missense_Mutation_p.G64E	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	106					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)|Breast(46;0.147)|Ovarian(87;0.156)												0.376623	160.604467	162.664714	58	96	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	Missense_Mutation	SNP	62956627	62956627	18747	19	G	A	A	41	41	ZNF776	A	2	2
ZNF776	284309	broad.mit.edu	36	19	62957083	62957083	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62957083G>A	uc002qpx.2	+	c.773G>A	c.(772-774)CGC>CAC	p.R258H	ZNF587_uc002qqb.1_Intron|ZNF776_uc002qqa.1_Missense_Mutation_p.R258H|ZNF776_uc002qqc.1_Missense_Mutation_p.R216H	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	258	C2H2-type 2; degenerate.				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)|Breast(46;0.147)|Ovarian(87;0.156)												0.241135	73.978157	82.60205	34	107	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	Missense_Mutation	SNP	62957083	62957083	18747	19	G	A	A	38	38	ZNF776	A	1	1
ZNF586	54807	broad.mit.edu	36	19	62982957	62982957	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62982957G>T	uc002qqd.1	+	c.1190G>T	c.(1189-1191)GGA>GTA	p.G397V	ZNF587_uc002qqb.1_Intron|ZNF586_uc010euh.1_Missense_Mutation_p.G354V|ZNF586_uc002qqe.1_3'UTR|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)												0.194286	63.136756	78.409312	34	141	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Missense_Mutation	SNP	62982957	62982957	18614	19	G	T	T	41	41	ZNF586	T	3	3
ZNF418	147686	broad.mit.edu	36	19	63129504	63129504	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63129504G>A	uc002qqs.1	-	c.1857C>T	c.(1855-1857)TAC>TAT	p.Y619Y		NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	619	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)												0.180617	71.630212	93.413129	41	186	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	Silent	SNP	63129504	63129504	18488	19	G	A	A	40	40	ZNF418	A	1	1
C19orf18	147685	broad.mit.edu	36	19	63164697	63164697	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63164697C>T	uc002qqv.1	-	c.406G>A	c.(406-408)GAG>AAG	p.E136K		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685	136	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)												0.447273	348.298336	348.961946	123	152	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	Missense_Mutation	SNP	63164697	63164697	1972	19	C	T	T	31	31	C19orf18	T	1	1
ZNF606	80095	broad.mit.edu	36	19	63183000	63183000	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63183000T>G	uc002qqw.1	-	c.860A>C	c.(859-861)AAT>ACT	p.N287T		NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)												0.246094	177.61464	192.630566	63	193	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	Missense_Mutation	SNP	63183000	63183000	18627	19	T	G	G	52	52	ZNF606	G	4	4
ZNF606	80095	broad.mit.edu	36	19	63183165	63183165	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63183165G>T	uc002qqw.1	-	c.695C>A	c.(694-696)TCT>TAT	p.S232Y		NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)												0.200658	113.27574	138.633353	61	243	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	Missense_Mutation	SNP	63183165	63183165	18627	19	G	T	T	33	33	ZNF606	T	3	3
ZNF135	7694	broad.mit.edu	36	19	63266645	63266645	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63266645G>T	uc002qre.1	+	c.180G>T	c.(178-180)CCG>CCT	p.P60P	ZNF135_uc002qrd.1_Silent_p.P18P|ZNF135_uc002qrf.1_Silent_p.P18P|ZNF135_uc002qrg.2_Silent_p.P18P	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	60					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)												0.429752	154.583233	155.103019	52	69	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	Silent	SNP	63266645	63266645	18316	19	G	T	T	37	37	ZNF135	T	3	3
GTF2F1	2962	broad.mit.edu	36	19	6331696	6331696	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6331696G>A	uc002meq.2	-	c.1237C>T	c.(1237-1239)CGG>TGG	p.R413W		NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	413					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription, DNA-dependent|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|general RNA polymerase II transcription factor activity|phosphatase activator activity|transcription activator activity|transcription coactivator activity|transcription factor binding				0														0.416667	139.587716	140.390056	55	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6331696	6331696	7138	19	G	A	A	38	38	GTF2F1	A	1	1
ZNF544	27300	broad.mit.edu	36	19	63464947	63464947	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63464947C>A	uc010euo.1	+	c.1163C>A	c.(1162-1164)TCT>TAT	p.S388Y	ZNF544_uc002qrt.2_Missense_Mutation_p.S246Y|ZNF544_uc002qru.2_Missense_Mutation_p.S246Y	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	388	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)												0.168675	42.680065	59.959184	28	138	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	Missense_Mutation	SNP	63464947	63464947	18572	19	C	A	A	32	32	ZNF544	A	3	3
ZSCAN22	342945	broad.mit.edu	36	19	63542083	63542083	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63542083A>G	uc002qsc.1	+	c.1055A>G	c.(1054-1056)TAC>TGC	p.Y352C		NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	352	C2H2-type 4.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)												0.227545	99.977511	111.347873	38	129	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	Missense_Mutation	SNP	63542083	63542083	18838	19	A	G	G	14	14	ZSCAN22	G	4	4
RPS5	6193	broad.mit.edu	36	19	63596337	63596338	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:63596337_63596338CG>TA	uc002qsn.1	+	c.291_292CG>TA	c.(289-294)TTCGAG>TTTAAG	p.E98K	RPS5_uc002qso.1_Missense_Mutation_p.E98K	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	98					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)												0.509434	233.462949	233.474983	81	78	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	Missense_Mutation	DNP	63596337	63596338	14128	19	CG	TA	TA	31	31	RPS5	TA	1	1
RPS5	6193	broad.mit.edu	36	19	63596609	63596609	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63596609C>T	uc002qsn.1	+	c.390C>T	c.(388-390)CGC>CGT	p.R130R	RPS5_uc002qso.1_Silent_p.R130R	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	130					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)												0.133929	35.041825	64.13913	30	194	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	Silent	SNP	63596609	63596609	14128	19	C	T	T	27	27	RPS5	T	1	1
ZNF132	7691	broad.mit.edu	36	19	63638118	63638118	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63638118G>A	uc002qst.2	-	c.505C>T	c.(505-507)CCC>TCC	p.P169S		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	169					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)												0.412844	250.562651	251.993062	90	128	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	Missense_Mutation	SNP	63638118	63638118	18313	19	G	A	A	42	42	ZNF132	A	2	2
KHSRP	8570	broad.mit.edu	36	19	6369542	6369542	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6369542C>T	uc002mer.2	-	c.831G>A	c.(829-831)ACG>ACA	p.T277T		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein (FUSE	277	Gly-rich.|KH 2.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1						Colon(55;593 1006 2067 9135 22980)								0.432099	97.312212	97.637578	35	46	CC		KEEP	---	---	---	---	capture			Silent	SNP	6369542	6369542	8457	19	C	T	T	31	31	KHSRP	T	1	1
TRIM28	10155	broad.mit.edu	36	19	63750811	63750811	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63750811G>A	uc002qtg.1	+	c.758G>A	c.(757-759)CGC>CAC	p.R253H	TRIM28_uc010eut.1_Missense_Mutation_p.R171H|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	253	RBCC domain.|Leucine zipper alpha helical coiled-coil region.				epithelial to mesenchymal transition|positive regulation of gene-specific transcription	nucleoplasm	chromo shadow domain binding|ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)								153				0.1875	33.199115	41.97602	18	78	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	Missense_Mutation	SNP	63750811	63750811	17046	19	G	A	A	38	38	TRIM28	A	1	1
TRIM28	10155	broad.mit.edu	36	19	63752368	63752368	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63752368G>A	uc002qtg.1	+	c.1611G>A	c.(1609-1611)GCG>GCA	p.A537A	TRIM28_uc010eut.1_Silent_p.A455A|TRIM28_uc002qth.1_Silent_p.A152A	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	537					epithelial to mesenchymal transition|positive regulation of gene-specific transcription	nucleoplasm	chromo shadow domain binding|ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)							p.A537A(VCAP-Tumor)	153				0.118182	9.807741	25.480787	13	97	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	Silent	SNP	63752368	63752368	17046	19	G	A	A	38	38	TRIM28	A	1	1
CHMP2A	27243	broad.mit.edu	36	19	63755583	63755583	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63755583C>T	uc002qti.1	-	c.203G>A	c.(202-204)CGC>CAC	p.R68H	CHMP2A_uc002qtj.1_Missense_Mutation_p.R68H|CHMP2A_uc002qtk.1_Missense_Mutation_p.R68H	NM_198426	NP_940818	O43633	CHM2A_HUMAN	chromatin modifying protein 2A	68	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)												0.204444	89.965676	108.178836	46	179	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	Missense_Mutation	SNP	63755583	63755583	3488	19	C	T	T	27	27	CHMP2A	T	1	1
MZF1	7593	broad.mit.edu	36	19	63766289	63766289	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63766289G>A	uc002qto.1	-	c.1167C>T	c.(1165-1167)TGC>TGT	p.C389C	MZF1_uc002qtn.1_Silent_p.C389C	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	389	C2H2-type 2.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	promoter binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)												0.454545	39.01912	39.078493	15	18	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	Silent	SNP	63766289	63766289	10503	19	G	A	A	38	38	MZF1	A	1	1
MZF1	7593	broad.mit.edu	36	19	63766634	63766634	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63766634G>A	uc002qto.1	-	c.822C>T	c.(820-822)AGC>AGT	p.S274S	MZF1_uc002qtn.1_Silent_p.S274S	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	274					regulation of transcription, DNA-dependent|viral reproduction	nucleus	promoter binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)												0.277778	11.06557	11.866669	5	13	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	Silent	SNP	63766634	63766634	10503	19	G	A	A	42	42	MZF1	A	2	2
MZF1	7593	broad.mit.edu	36	19	63774202	63774202	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63774202G>A	uc002qto.1	-	c.367C>T	c.(367-369)CGC>TGC	p.R123C	MZF1_uc002qtn.1_Missense_Mutation_p.R123C|MZF1_uc010euu.1_Missense_Mutation_p.R164C	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	123	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	promoter binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)												0.486111	92.109745	92.121953	35	37	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	Missense_Mutation	SNP	63774202	63774202	10503	19	G	A	A	38	38	MZF1	A	1	1
SLC25A41	284427	broad.mit.edu	36	19	6377431	6377431	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6377431T>C	uc010dus.1	-	c.1082A>G	c.(1081-1083)TAC>TGC	p.Y361C	KHSRP_uc002mer.2_5'Flank|SLC25A41_uc010dut.1_Missense_Mutation_p.Y223C	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	361	Helical; Name=6; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0														0.301282	132.473419	137.971072	47	109	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6377431	6377431	15003	19	T	C	C	57	57	SLC25A41	C	4	4
SLC25A23	79085	broad.mit.edu	36	19	6407477	6407477	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6407477G>A	uc002mex.1	-	c.437C>T	c.(436-438)TCG>TTG	p.S146L	SLC25A23_uc002mev.2_Non-coding_Transcript	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	146	EF-hand 3.|Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2														0.467153	184.183619	184.312532	64	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6407477	6407477	14983	19	G	A	A	37	37	SLC25A23	A	1	1
DENND1C	79958	broad.mit.edu	36	19	6419049	6419049	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6419049T>G	uc002mfe.1	-	c.1872A>C	c.(1870-1872)CAA>CAC	p.Q624H	DENND1C_uc002mfb.1_Missense_Mutation_p.Q174H|DENND1C_uc002mfc.1_Missense_Mutation_p.Q174H|DENND1C_uc002mfd.1_Missense_Mutation_p.Q174H	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	624						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1														0.230769	49.313939	54.491577	18	60	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6419049	6419049	4607	19	T	G	G	64	64	DENND1C	G	4	4
DENND1C	79958	broad.mit.edu	36	19	6426903	6426903	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6426903G>A	uc002mfe.1	-	c.724C>T	c.(724-726)CGC>TGC	p.R242C	DENND1C_uc002mfb.1_5'UTR|DENND1C_uc002mfc.1_5'UTR|DENND1C_uc002mfd.1_5'UTR	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	242	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1														0.533333	23.900208	23.914668	8	7	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6426903	6426903	4607	19	G	A	A	38	38	DENND1C	A	1	1
TNFSF14	8740	broad.mit.edu	36	19	6615991	6615991	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6615991G>A	uc002mfk.1	-	c.669C>T	c.(667-669)CGC>CGT	p.R223R	TNFSF14_uc002mfj.1_Silent_p.R187R	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	223	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding				0														0.361446	305.089097	310.705814	120	212	GG		KEEP	---	---	---	---	capture			Silent	SNP	6615991	6615991	16848	19	G	A	A	42	42	TNFSF14	A	2	2
TNFSF14	8740	broad.mit.edu	36	19	6616125	6616125	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6616125G>A	uc002mfk.1	-	c.535C>T	c.(535-537)CTG>TTG	p.L179L	TNFSF14_uc002mfj.1_Silent_p.L143L	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	179	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding				0														0.564286	235.875094	236.390619	79	61	GG		KEEP	---	---	---	---	capture			Silent	SNP	6616125	6616125	16848	19	G	A	A	34	34	TNFSF14	A	2	2
TNFSF14	8740	broad.mit.edu	36	19	6616284	6616284	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6616284G>A	uc002mfk.1	-	c.376C>T	c.(376-378)CTC>TTC	p.L126F	TNFSF14_uc002mfj.1_Missense_Mutation_p.L90F	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	126	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding				0														0.368421	62.660954	63.528043	21	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6616284	6616284	16848	19	G	A	A	35	35	TNFSF14	A	2	2
C3	718	broad.mit.edu	36	19	6629236	6629236	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6629236C>T	uc002mfm.1	-	c.4777G>A	c.(4777-4779)GCC>ACC	p.A1593T	C3_uc002mfl.1_Missense_Mutation_p.A329T	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1593	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			ovary(1)|pancreas(1)	2														0.153846	37.789469	55.676644	24	132	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Missense_Mutation	SNP	6629236	6629236	2296	19	C	T	T	28	28	C3	T	2	2
C3	718	broad.mit.edu	36	19	6635580	6635580	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6635580G>A	uc002mfm.1	-	c.4111C>T	c.(4111-4113)CCG>TCG	p.P1371S	C3_uc002mfl.1_Missense_Mutation_p.P107S	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1371					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			ovary(1)|pancreas(1)	2														0.379009	351.924742	356.34396	130	213	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Missense_Mutation	SNP	6635580	6635580	2296	19	G	A	A	44	44	C3	A	2	2
C3	718	broad.mit.edu	36	19	6644474	6644474	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6644474C>A	uc002mfm.1	-	c.3179G>T	c.(3178-3180)AGA>ATA	p.R1060I	C3_uc002mfl.1_5'Flank	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1060					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			ovary(1)|pancreas(1)	2														0.471698	68.464993	68.502339	25	28	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Missense_Mutation	SNP	6644474	6644474	2296	19	C	A	A	32	32	C3	A	3	3
TRIP10	9322	broad.mit.edu	36	19	6695568	6695568	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6695568C>A	uc002mfs.1	+	c.646C>A	c.(646-648)CTC>ATC	p.L216I	TRIP10_uc010dux.1_Missense_Mutation_p.L216I|TRIP10_uc002mfr.1_Missense_Mutation_p.L216I|TRIP10_uc010duy.1_Non-coding_Transcript|TRIP10_uc010duz.1_Missense_Mutation_p.L35I	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	216	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1														0.360947	481.84747	490.490492	183	324	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6695568	6695568	17104	19	C	A	A	28	28	TRIP10	A	3	3
TRIP10	9322	broad.mit.edu	36	19	6697538	6697538	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6697538C>T	uc002mfs.1	+	c.1228C>T	c.(1228-1230)CGC>TGC	p.R410C	TRIP10_uc010dux.1_Missense_Mutation_p.R354C|TRIP10_uc002mfr.1_Missense_Mutation_p.R354C|TRIP10_uc010duy.1_Non-coding_Transcript|TRIP10_uc010duz.1_Missense_Mutation_p.R173C	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	410	Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1														0.323232	81.065826	83.812036	32	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6697538	6697538	17104	19	C	T	T	19	19	TRIP10	T	1	1
TRIP10	9322	broad.mit.edu	36	19	6701590	6701590	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6701590G>A	uc002mfs.1	+	c.1603G>A	c.(1603-1605)GAG>AAG	p.E535K	TRIP10_uc010dux.1_Missense_Mutation_p.E479K|TRIP10_uc002mfr.1_Missense_Mutation_p.E479K|TRIP10_uc010duy.1_Non-coding_Transcript|TRIP10_uc010duz.1_Missense_Mutation_p.E298K	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	535	Interaction with CDC42.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and WASL.|Interaction with DNM2 and WASL (By similarity).|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1														0.183267	84.004304	107.643719	46	205	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6701590	6701590	17104	19	G	A	A	37	37	TRIP10	A	1	1
SH2D3A	10045	broad.mit.edu	36	19	6705940	6705940	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6705940G>A	uc002mft.1	-	c.883C>T	c.(883-885)CGG>TGG	p.R295W		NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	295					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2														0.429167	564.475903	566.572641	206	274	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6705940	6705940	14724	19	G	A	A	37	37	SH2D3A	A	1	1
VAV1	7409	broad.mit.edu	36	19	6784931	6784931	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6784931C>T	uc002mfu.1	+	c.1744C>T	c.(1744-1746)CGC>TGC	p.R582C	VAV1_uc010dva.1_Missense_Mutation_p.R582C|VAV1_uc002mfv.1_Missense_Mutation_p.R527C	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	582					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|central_nervous_system(2)|kidney(2)|skin(1)	10										494				0.516667	360.817734	360.877158	124	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6784931	6784931	17696	19	C	T	T	31	31	VAV1	T	1	1
VAV1	7409	broad.mit.edu	36	19	6788006	6788006	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6788006C>A	uc002mfu.1	+	c.1925C>A	c.(1924-1926)ACA>AAA	p.T642K	VAV1_uc010dva.1_Intron|VAV1_uc002mfv.1_Missense_Mutation_p.T587K	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	642	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|central_nervous_system(2)|kidney(2)|skin(1)	10										494				0.146707	81.868054	121.918789	49	285	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6788006	6788006	17696	19	C	A	A	17	17	VAV1	A	3	3
VAV1	7409	broad.mit.edu	36	19	6805100	6805100	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6805100C>A	uc002mfu.1	+	c.2475C>A	c.(2473-2475)ATC>ATA	p.I825I	VAV1_uc010dva.1_Silent_p.I803I|VAV1_uc002mfv.1_Silent_p.I770I	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	825	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|central_nervous_system(2)|kidney(2)|skin(1)	10										494				0.377778	172.735906	175.10225	68	112	CC		KEEP	---	---	---	---	capture			Silent	SNP	6805100	6805100	17696	19	C	A	A	32	32	VAV1	A	3	3
EMR1	2015	broad.mit.edu	36	19	6867345	6867345	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6867345C>T	uc002mfw.1	+	c.1386C>T	c.(1384-1386)ATC>ATT	p.I462I	EMR1_uc010dvb.1_Silent_p.I410I|EMR1_uc010dvc.1_Silent_p.I462I	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	462	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.141844	55.613588	90.502547	40	242	CC		KEEP	---	---	---	---	capture			Silent	SNP	6867345	6867345	5297	19	C	T	T	31	31	EMR1	T	1	1
EMR1	2015	broad.mit.edu	36	19	6870601	6870601	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6870601C>T	uc002mfw.1	+	c.1463C>T	c.(1462-1464)TCG>TTG	p.S488L	EMR1_uc010dvb.1_Missense_Mutation_p.S436L|EMR1_uc010dvc.1_Missense_Mutation_p.S488L	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	488	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.180952	106.507027	136.633808	57	258	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6870601	6870601	5297	19	C	T	T	31	31	EMR1	T	1	1
EMR1	2015	broad.mit.edu	36	19	6875745	6875745	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6875745C>T	uc002mfw.1	+	c.1848C>T	c.(1846-1848)TGC>TGT	p.C616C	EMR1_uc010dvb.1_Silent_p.C564C|EMR1_uc010dvc.1_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	616	Helical; Name=1; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.124183	18.723815	39.857634	19	134	CC		KEEP	---	---	---	---	capture			Silent	SNP	6875745	6875745	5297	19	C	T	T	26	26	EMR1	T	2	2
EMR1	2015	broad.mit.edu	36	19	6875860	6875860	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6875860G>A	uc002mfw.1	+	c.1963G>A	c.(1963-1965)GGT>AGT	p.G655S	EMR1_uc010dvb.1_Missense_Mutation_p.G603S|EMR1_uc010dvc.1_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	655	Helical; Name=2; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.608333	235.10062	236.336565	73	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6875860	6875860	5297	19	G	A	A	39	39	EMR1	A	1	1
EMR1	2015	broad.mit.edu	36	19	6888630	6888630	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6888630C>T	uc002mfw.1	+	c.2626C>T	c.(2626-2628)CTG>TTG	p.L876L	EMR1_uc010dvb.1_Silent_p.L857L|EMR1_uc010dvc.1_Silent_p.L811L	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	876	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.487273	405.018892	405.058253	134	141	CC		KEEP	---	---	---	---	capture			Silent	SNP	6888630	6888630	5297	19	C	T	T	28	28	EMR1	T	2	2
INSR	3643	broad.mit.edu	36	19	7068234	7068234	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7068234G>A	uc002mgd.1	-	c.3982C>T	c.(3982-3984)CCC>TCC	p.P1328S	INSR_uc002mge.1_Missense_Mutation_p.P1316S	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1328	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of gene-specific transcription|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)					649				0.1875	81.922047	103.809572	45	195	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7068234	7068234	8074	19	G	A	A	42	42	INSR	A	2	2
ZNF358	140467	broad.mit.edu	36	19	7491016	7491016	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7491016C>T	uc002mgn.2	+	c.888C>T	c.(886-888)TGC>TGT	p.C296C	ZNF358_uc010dvg.1_Silent_p.C296C|MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.1_5'Flank|MCOLN1_uc002mgp.1_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	296	C2H2-type 6.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.222222	28.285503	33.385985	16	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	7491016	7491016	18459	19	C	T	T	27	27	ZNF358	T	1	1
PNPLA6	10908	broad.mit.edu	36	19	7513465	7513465	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7513465G>A	uc002mgq.1	+	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	PNPLA6_uc002mgr.1_Missense_Mutation_p.R385H|PNPLA6_uc002mgs.1_Missense_Mutation_p.R372H	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase	424	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3														0.605769	168.308429	169.332533	63	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7513465	7513465	12596	19	G	A	A	38	38	PNPLA6	A	1	1
PNPLA6	10908	broad.mit.edu	36	19	7520876	7520876	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7520876C>T	uc002mgq.1	+	c.1575C>T	c.(1573-1575)TTC>TTT	p.F525F	PNPLA6_uc002mgr.1_Silent_p.F525F|PNPLA6_uc002mgs.1_Silent_p.F512F	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase	564	cNMP 2.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3														0.418519	309.916625	311.483036	113	157	CC		KEEP	---	---	---	---	capture			Silent	SNP	7520876	7520876	12596	19	C	T	T	31	31	PNPLA6	T	1	1
XAB2	56949	broad.mit.edu	36	19	7596801	7596801	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7596801C>T	uc002mgx.1	-	c.787G>A	c.(787-789)GCC>ACC	p.A263T		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	263	HAT 7.				nuclear mRNA splicing, via spliceosome|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4														0.125	10.033987	25.398167	14	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7596801	7596801	17992	19	C	T	T	27	27	XAB2	T	1	1
PTBP1	5725	broad.mit.edu	36	19	759751	759751	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:759751C>A	uc002lpp.1	+	c.1452C>A	c.(1450-1452)CTC>CTA	p.L484L	PTBP1_uc002lpq.1_Silent_p.L477L|PTBP1_uc002lpr.1_Silent_p.L458L|PTBP1_uc002lps.1_Silent_p.L124L|PTBP1_uc002lpt.1_Non-coding_Transcript|PTBP1_uc002lpu.1_Silent_p.L454L	NM_002819	NP_002810	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	458	RRM 4.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)	1		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)												0.315789	42.220996	43.946292	18	39	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	759751	759751	13179	19	C	A	A	32	32	PTBP1	A	3	3
C19orf59	199675	broad.mit.edu	36	19	7649091	7649091	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7649091C>A	uc002mhh.1	+	c.286C>A	c.(286-288)CTC>ATC	p.L96I	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	mast cell-expressed membrane protein 1	96	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane					0												OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.323725	358.555416	371.015552	146	305	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7649091	7649091	2004	19	C	A	A	24	24	C19orf59	A	3	3
TRAPPC5	126003	broad.mit.edu	36	19	7653393	7653393	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7653393C>T	uc002mhi.1	+	c.254C>T	c.(253-255)GCG>GTG	p.A85V	TRAPPC5_uc002mhj.1_Missense_Mutation_p.A85V|TRAPPC5_uc002mhk.1_Missense_Mutation_p.A85V|TRAPPC5_uc010dvn.1_Missense_Mutation_p.A85V	NM_001042462	NP_777554	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	85					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding				0														0.383178	105.6737	106.94452	41	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7653393	7653393	17006	19	C	T	T	27	27	TRAPPC5	T	1	1
CLEC4G	339390	broad.mit.edu	36	19	7702655	7702655	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7702655G>A	uc002mhp.2	-	c.58C>T	c.(58-60)CCC>TCC	p.P20S		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	20	Cytoplasmic (Potential).					integral to membrane	protein binding|sugar binding				0						Esophageal Squamous(146;540 1807 3349 19438 30853)								0.220588	29.18699	34.078313	15	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7702655	7702655	3655	19	G	A	A	42	42	CLEC4G	A	2	2
CLEC4G	339390	broad.mit.edu	36	19	7702983	7702983	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7702983G>C	uc002mhp.2	-	c.6C>G	c.(4-6)GAC>GAG	p.D2E		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	2	Cytoplasmic (Potential).					integral to membrane	protein binding|sugar binding				0						Esophageal Squamous(146;540 1807 3349 19438 30853)								0.502793	314.341918	314.343085	90	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7702983	7702983	3655	19	G	C	C	48	48	CLEC4G	C	3	3
CD209	30835	broad.mit.edu	36	19	7716717	7716717	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7716717C>T	uc002mht.1	-	c.435G>A	c.(433-435)GAG>GAA	p.E145E	CD209_uc010dvp.1_Silent_p.E121E|CD209_uc002mhs.1_Silent_p.E121E|CD209_uc002mhq.1_Silent_p.E145E|CD209_uc002mhr.1_Silent_p.E121E|CD209_uc002mhu.1_Silent_p.E145E|CD209_uc010dvq.1_Silent_p.E145E|CD209_uc002mhv.1_Silent_p.E121E|CD209_uc002mhw.1_Silent_p.E101E|CD209_uc002mhx.1_Silent_p.E101E|CD209_uc010dvr.1_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	145	Extracellular (Probable).|7 X approximate tandem repeats.|3.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding				0														0.526096	739.201115	739.47958	252	227	CC		KEEP	---	---	---	---	capture			Silent	SNP	7716717	7716717	3111	19	C	T	T	32	32	CD209	T	2	2
CD209	30835	broad.mit.edu	36	19	7716873	7716873	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7716873C>T	uc002mht.1	-	c.279G>A	c.(277-279)GAG>GAA	p.E93E	CD209_uc010dvp.1_Silent_p.E69E|CD209_uc002mhs.1_Silent_p.E69E|CD209_uc002mhq.1_Silent_p.E93E|CD209_uc002mhr.1_Silent_p.E69E|CD209_uc002mhu.1_Silent_p.E93E|CD209_uc010dvq.1_Silent_p.E93E|CD209_uc002mhv.1_Silent_p.E69E|CD209_uc002mhw.1_Silent_p.E49E|CD209_uc002mhx.1_Silent_p.E49E|CD209_uc010dvr.1_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	93	Extracellular (Probable).				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding				0														0.542334	736.572813	737.250385	237	200	CC		KEEP	---	---	---	---	capture			Silent	SNP	7716873	7716873	3111	19	C	T	T	32	32	CD209	T	2	2
AZU1	566	broad.mit.edu	36	19	781861	781861	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:781861G>A	uc002lpz.1	+	c.514G>A	c.(514-516)GTG>ATG	p.V172M		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	172	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		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)												0.385965	116.972571	118.271578	44	70	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	781861	781861	1264	19	G	A	A	40	40	AZU1	A	1	1
AZU1	566	broad.mit.edu	36	19	782742	782742	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:782742C>T	uc002lpz.1	+	c.621C>T	c.(619-621)TGC>TGT	p.C207C		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	207	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		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)												0.178571	15.511614	20.964885	10	46	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	782742	782742	1264	19	C	T	T	27	27	AZU1	T	1	1
LRRC8E	80131	broad.mit.edu	36	19	7870391	7870391	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7870391C>A	uc002mir.1	+	c.984C>A	c.(982-984)ATC>ATA	p.I328I		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	328	Helical; (Potential).					integral to membrane				lung(1)|pancreas(1)	2														0.532338	293.999075	294.17928	107	94	CC		KEEP	---	---	---	---	capture			Silent	SNP	7870391	7870391	9401	19	C	A	A	32	32	LRRC8E	A	3	3
LRRC8E	80131	broad.mit.edu	36	19	7870878	7870878	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7870878G>A	uc002mir.1	+	c.1471G>A	c.(1471-1473)GTC>ATC	p.V491I		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	491						integral to membrane				lung(1)|pancreas(1)	2														0.5	68.46738	68.46738	25	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7870878	7870878	9401	19	G	A	A	40	40	LRRC8E	A	1	1
LRRC8E	80131	broad.mit.edu	36	19	7871070	7871070	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7871070G>A	uc002mir.1	+	c.1663G>A	c.(1663-1665)GAC>AAC	p.D555N		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	555	LRR 2.					integral to membrane				lung(1)|pancreas(1)	2														0.189655	40.381267	50.835198	22	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7871070	7871070	9401	19	G	A	A	37	37	LRRC8E	A	1	1
MAP2K7	5609	broad.mit.edu	36	19	7883267	7883267	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7883267C>T	uc002miu.1	+	c.1259C>T	c.(1258-1260)CCG>CTG	p.P420L	MAP2K7_uc002mit.1_Missense_Mutation_p.P404L|MAP2K7_uc002miv.1_Missense_Mutation_p.P411L|MAP2K7_uc010dvv.1_Missense_Mutation_p.P279L	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	404					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)	9					Etoposide(DB00773)					108				0.142857	14.83995	25.188602	12	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7883267	7883267	9625	19	C	T	T	23	23	MAP2K7	T	1	1
FBN3	84467	broad.mit.edu	36	19	8042980	8042980	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8042980G>A	uc002mjf.1	-	c.8040C>T	c.(8038-8040)GGC>GGT	p.G2680G	FBN3_uc002mje.1_Silent_p.G476G	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2680						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.189011	151.236109	192.401272	86	369	GG		KEEP	---	---	---	---	capture			Silent	SNP	8042980	8042980	5940	19	G	A	A	42	42	FBN3	A	2	2
FBN3	84467	broad.mit.edu	36	19	8077098	8077098	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8077098C>T	uc002mjf.1	-	c.4707G>A	c.(4705-4707)GAG>GAA	p.E1569E		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1569	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.488095	123.978272	123.988265	41	43	CC		KEEP	---	---	---	---	capture			Silent	SNP	8077098	8077098	5940	19	C	T	T	28	28	FBN3	T	2	2
FBN3	84467	broad.mit.edu	36	19	8088168	8088168	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8088168G>A	uc002mjf.1	-	c.3471C>T	c.(3469-3471)AAC>AAT	p.N1157N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1157	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.53125	146.020486	146.10139	51	45	GG		KEEP	---	---	---	---	capture			Silent	SNP	8088168	8088168	5940	19	G	A	A	40	40	FBN3	A	1	1
FBN3	84467	broad.mit.edu	36	19	8094738	8094738	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8094738G>A	uc002mjf.1	-	c.2886C>T	c.(2884-2886)TTC>TTT	p.F962F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	962	TB 5.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.342466	62.54701	64.150317	25	48	GG		KEEP	---	---	---	---	capture			Silent	SNP	8094738	8094738	5940	19	G	A	A	37	37	FBN3	A	1	1
FBN3	84467	broad.mit.edu	36	19	8103923	8103923	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8103923G>A	uc002mjf.1	-	c.1659C>T	c.(1657-1659)TTC>TTT	p.F553F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	553	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.714286	31.754751	32.331367	10	4	GG		KEEP	---	---	---	---	capture			Silent	SNP	8103923	8103923	5940	19	G	A	A	33	33	FBN3	A	2	2
KANK3	256949	broad.mit.edu	36	19	8295581	8295581	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8295581T>C	uc010dwa.1	-	c.2216A>G	c.(2215-2217)TAT>TGT	p.Y739C		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	ankyrin repeat domain 47	739	ANK 4.										0														0.143791	39.774748	58.445345	22	131	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8295581	8295581	8282	19	T	C	C	49	49	KANK3	C	4	4
KANK3	256949	broad.mit.edu	36	19	8305853	8305853	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8305853G>A	uc010dwa.1	-	c.858C>T	c.(856-858)GTC>GTT	p.V286V	KANK3_uc002mjp.1_5'Flank	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	ankyrin repeat domain 47	286											0														0.666667	11.400468	11.547779	4	2	GG		KEEP	---	---	---	---	capture			Silent	SNP	8305853	8305853	8282	19	G	A	A	41	41	KANK3	A	2	2
MED16	10025	broad.mit.edu	36	19	832661	832661	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:832661C>T	uc002lqd.1	-	c.1039G>A	c.(1039-1041)GAT>AAT	p.D347N	MED16_uc010drw.1_Missense_Mutation_p.D172N|MED16_uc002lqe.2_Missense_Mutation_p.D336N|MED16_uc002lqf.2_Missense_Mutation_p.D336N	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	347					androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|transcription activator activity|vitamin D receptor binding				0		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;9.42e-05)|Hepatocellular(1079;0.137)												0.555985	407.633923	408.351225	144	115	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	832661	832661	9823	19	C	T	T	31	31	MED16	T	1	1
MED16	10025	broad.mit.edu	36	19	837157	837157	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:837157G>T	uc002lqd.1	-	c.492C>A	c.(490-492)TTC>TTA	p.F164L	MED16_uc010drw.1_5'UTR|MED16_uc002lqe.2_Missense_Mutation_p.F153L|MED16_uc002lqf.2_Missense_Mutation_p.F153L	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	164					androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|transcription activator activity|vitamin D receptor binding				0		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;9.42e-05)|Hepatocellular(1079;0.137)												0.2	16.551073	20.318159	9	36	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	837157	837157	9823	19	G	T	T	33	33	MED16	T	3	3
HNRNPM	4670	broad.mit.edu	36	19	8426338	8426338	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8426338A>C	uc010dwe.1	+	c.163A>C	c.(163-165)AAA>CAA	p.K55Q	HNRNPM_uc010dwc.1_Missense_Mutation_p.K55Q|HNRNPM_uc010dwd.1_Missense_Mutation_p.K55Q	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	55					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0														0.550218	437.179199	437.682789	126	103	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8426338	8426338	7563	19	A	C	C	1	1	HNRNPM	C	4	4
ZNF414	84330	broad.mit.edu	36	19	8483308	8483308	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8483308G>T	uc002mke.2	-	c.493C>A	c.(493-495)CAC>AAC	p.H165N	ZNF414_uc010dwf.1_Missense_Mutation_p.H154N|ZNF414_uc002mkf.1_Missense_Mutation_p.H165N	NM_032370	NP_115746	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	165	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.129921	36.880534	70.764318	33	221	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8483308	8483308	18484	19	G	T	T	45	45	ZNF414	T	3	3
MYO1F	4542	broad.mit.edu	36	19	8501422	8501422	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8501422G>A	uc002mkg.1	-	c.2079C>T	c.(2077-2079)TTC>TTT	p.F693F		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	693	IQ.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)	2														0.558468	798.343413	799.81339	277	219	GG		KEEP	---	---	---	---	capture			Silent	SNP	8501422	8501422	10468	19	G	A	A	37	37	MYO1F	A	1	1
C19orf22	91300	broad.mit.edu	36	19	851110	851110	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:851110C>T	uc002lqg.1	-	c.512G>A	c.(511-513)CGC>CAC	p.R171H	C19orf22_uc002lqh.1_Missense_Mutation_p.R150H|C19orf22_uc002lqi.1_Silent_p.A170A|C19orf22_uc002lqj.1_Missense_Mutation_p.R49H	NM_138774	NP_620129	Q96D70	CS022_HUMAN	hypothetical protein LOC91300	171	Arg-rich.					nucleus	nucleic acid binding			pancreas(1)	1		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)												0.170068	39.885562	55.03492	25	122	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	851110	851110	1976	19	C	T	T	27	27	C19orf22	T	1	1
MYO1F	4542	broad.mit.edu	36	19	8526564	8526564	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8526564G>A	uc002mkg.1	-	c.120C>T	c.(118-120)CGC>CGT	p.R40R	MYO1F_uc002mkh.1_Silent_p.R40R	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	40	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)	2														0.323009	183.75694	190.06412	73	153	GG		KEEP	---	---	---	---	capture			Silent	SNP	8526564	8526564	10468	19	G	A	A	34	34	MYO1F	A	2	2
ADAMTS10	81794	broad.mit.edu	36	19	8576209	8576209	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8576209G>A	uc002mkj.1	-	c.123C>T	c.(121-123)ATC>ATT	p.I41I	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	41					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(1)	3														0.195122	15.975742	19.53043	8	33	GG		KEEP	---	---	---	---	capture			Silent	SNP	8576209	8576209	257	19	G	A	A	37	37	ADAMTS10	A	1	1
ACTL9	284382	broad.mit.edu	36	19	8669002	8669002	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8669002G>A	uc002mkl.1	-	c.1050C>T	c.(1048-1050)TTC>TTT	p.F350F		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	hypothetical protein LOC284382	350						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3														0.428571	138.812303	139.339455	51	68	GG		KEEP	---	---	---	---	capture			Silent	SNP	8669002	8669002	204	19	G	A	A	37	37	ACTL9	A	1	1
OR2Z1	284383	broad.mit.edu	36	19	8702745	8702745	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8702745T>C	uc002mkm.1	+	c.355T>C	c.(355-357)TCT>CCT	p.S119P		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.372807	250.521563	253.758563	85	143	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8702745	8702745	11442	19	T	C	C	58	58	OR2Z1	C	4	4
KISS1R	84634	broad.mit.edu	36	19	871418	871418	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:871418C>T	uc002lqk.2	+	c.867C>T	c.(865-867)GGC>GGT	p.G289G		NM_032551	NP_115940	Q969F8	KISSR_HUMAN	G protein-coupled receptor 54	289	Extracellular (Potential).				behavior	integral to membrane|plasma membrane	neuropeptide receptor activity|protein binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)												0.166667	9.423419	13.833119	7	35	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	871418	871418	8640	19	C	T	T	26	26	KISS1R	T	2	2
ZNF558	148156	broad.mit.edu	36	19	8783484	8783484	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8783484T>C	uc002mkn.1	-	c.682A>G	c.(682-684)AGA>GGA	p.R228G	ZNF558_uc010dwg.1_Missense_Mutation_p.R228G	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	zinc finger protein 558	228	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1														0.348039	233.370588	237.525171	71	133	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8783484	8783484	18584	19	T	C	C	54	54	ZNF558	C	4	4
MUC16	94025	broad.mit.edu	36	19	8864324	8864324	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8864324G>T	uc002mkp.1	-	c.40111C>A	c.(40111-40113)CTG>ATG	p.L13371M	MUC16_uc010dwh.1_Intron|MUC16_uc010dwi.1_Non-coding_Transcript|MUC16_uc010dwj.1_Missense_Mutation_p.L188M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13373	Extracellular (Potential).|SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.138889	17.041636	30.670256	15	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8864324	8864324	10367	19	G	T	T	33	33	MUC16	T	3	3
MUC16	94025	broad.mit.edu	36	19	8907377	8907377	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8907377C>T	uc002mkp.1	-	c.35254G>A	c.(35254-35256)GCA>ACA	p.A11752T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11754	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.132948	27.012545	49.559539	23	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8907377	8907377	10367	19	C	T	T	26	26	MUC16	T	2	2
MUC16	94025	broad.mit.edu	36	19	8907459	8907459	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8907459C>A	uc002mkp.1	-	c.35172G>T	c.(35170-35172)AGG>AGT	p.R11724S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11726	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.150754	36.612327	59.817962	30	169	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8907459	8907459	10367	19	C	A	A	30	30	MUC16	A	3	3
MUC16	94025	broad.mit.edu	36	19	8909187	8909187	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8909187T>C	uc002mkp.1	-	c.33444A>G	c.(33442-33444)GTA>GTG	p.V11148V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11150	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.531034	260.286434	260.408663	77	68	TT		KEEP	---	---	---	---	capture			Silent	SNP	8909187	8909187	10367	19	T	C	C	57	57	MUC16	C	4	4
MUC16	94025	broad.mit.edu	36	19	8910528	8910528	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8910528A>T	uc002mkp.1	-	c.32103T>A	c.(32101-32103)TTT>TTA	p.F10701L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10703	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.375	476.121479	483.042698	189	315	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8910528	8910528	10367	19	A	T	T	1	1	MUC16	T	4	4
MUC16	94025	broad.mit.edu	36	19	8918561	8918561	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8918561G>A	uc002mkp.1	-	c.29885C>T	c.(29884-29886)TCT>TTT	p.S9962F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9964	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.185345	258.537393	323.170131	129	567	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8918561	8918561	10367	19	G	A	A	33	33	MUC16	A	2	2
MUC16	94025	broad.mit.edu	36	19	8919455	8919455	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8919455G>A	uc002mkp.1	-	c.28991C>T	c.(28990-28992)ACC>ATC	p.T9664I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9666	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.131034	21.417416	40.625179	19	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8919455	8919455	10367	19	G	A	A	44	44	MUC16	A	2	2
MUC16	94025	broad.mit.edu	36	19	8921324	8921324	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8921324G>T	uc002mkp.1	-	c.27122C>A	c.(27121-27123)TCC>TAC	p.S9041Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9043	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.131068	28.488803	55.757691	27	179	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8921324	8921324	10367	19	G	T	T	41	41	MUC16	T	3	3
MUC16	94025	broad.mit.edu	36	19	8923702	8923702	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8923702G>A	uc002mkp.1	-	c.24744C>T	c.(24742-24744)AGC>AGT	p.S8248S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8250	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.35503	159.543385	162.676742	60	109	GG		KEEP	---	---	---	---	capture			Silent	SNP	8923702	8923702	10367	19	G	A	A	42	42	MUC16	A	2	2
MUC16	94025	broad.mit.edu	36	19	8924209	8924209	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8924209C>T	uc002mkp.1	-	c.24237G>A	c.(24235-24237)CAG>CAA	p.Q8079Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8081	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.219895	95.539244	109.347587	42	149	CC		KEEP	---	---	---	---	capture			Silent	SNP	8924209	8924209	10367	19	C	T	T	32	32	MUC16	T	2	2
MUC16	94025	broad.mit.edu	36	19	8926232	8926232	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8926232G>A	uc002mkp.1	-	c.22214C>T	c.(22213-22215)TCT>TTT	p.S7405F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7407	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.529412	133.768425	133.83162	45	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8926232	8926232	10367	19	G	A	A	33	33	MUC16	A	2	2
MUC16	94025	broad.mit.edu	36	19	8928983	8928983	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8928983G>T	uc002mkp.1	-	c.19463C>A	c.(19462-19464)ACT>AAT	p.T6488N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6490	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.190698	77.333998	96.577017	41	174	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8928983	8928983	10367	19	G	T	T	36	36	MUC16	T	3	3
MUC16	94025	broad.mit.edu	36	19	8929556	8929556	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8929556G>T	uc002mkp.1	-	c.18890C>A	c.(18889-18891)CCT>CAT	p.P6297H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6299	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.372014	285.272166	289.498342	109	184	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8929556	8929556	10367	19	G	T	T	35	35	MUC16	T	3	3
MUC16	94025	broad.mit.edu	36	19	8929942	8929942	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8929942G>A	uc002mkp.1	-	c.18504C>T	c.(18502-18504)GGC>GGT	p.G6168G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6170	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.147059	34.279934	54.622523	25	145	GG		KEEP	---	---	---	---	capture			Silent	SNP	8929942	8929942	10367	19	G	A	A	42	42	MUC16	A	2	2
MUC16	94025	broad.mit.edu	36	19	8933331	8933331	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8933331A>C	uc002mkp.1	-	c.15115T>G	c.(15115-15117)TCC>GCC	p.S5039A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5041	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.227848	82.735082	93.462686	36	122	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8933331	8933331	10367	19	A	C	C	11	11	MUC16	C	4	4
MUC16	94025	broad.mit.edu	36	19	8934228	8934228	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8934228C>T	uc002mkp.1	-	c.14218G>A	c.(14218-14220)GAT>AAT	p.D4740N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4742	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.179104	111.588386	144.0615	60	275	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8934228	8934228	10367	19	C	T	T	30	30	MUC16	T	2	2
MUC16	94025	broad.mit.edu	36	19	8935088	8935088	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8935088G>A	uc002mkp.1	-	c.13358C>T	c.(13357-13359)CCC>CTC	p.P4453L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4455	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.387978	206.487169	208.497525	71	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8935088	8935088	10367	19	G	A	A	43	43	MUC16	A	2	2
MUC16	94025	broad.mit.edu	36	19	8936731	8936731	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8936731C>T	uc002mkp.1	-	c.11715G>A	c.(11713-11715)AGG>AGA	p.R3905R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3906	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.175926	35.456115	46.152798	19	89	CC		KEEP	---	---	---	---	capture			Silent	SNP	8936731	8936731	10367	19	C	T	T	30	30	MUC16	T	2	2
MUC16	94025	broad.mit.edu	36	19	8937177	8937177	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8937177C>T	uc002mkp.1	-	c.11269G>A	c.(11269-11271)GCC>ACC	p.A3757T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3758	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.560284	455.116706	456.003365	158	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8937177	8937177	10367	19	C	T	T	26	26	MUC16	T	2	2
MUC16	94025	broad.mit.edu	36	19	8937508	8937508	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8937508G>T	uc002mkp.1	-	c.10938C>A	c.(10936-10938)TCC>TCA	p.S3646S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3647	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.526012	260.811996	260.912485	91	82	GG		KEEP	---	---	---	---	capture			Silent	SNP	8937508	8937508	10367	19	G	T	T	35	35	MUC16	T	3	3
MUC16	94025	broad.mit.edu	36	19	8938386	8938386	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8938386T>C	uc002mkp.1	-	c.10060A>G	c.(10060-10062)ACC>GCC	p.T3354A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3355	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.516832	890.36935	890.49473	261	244	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8938386	8938386	10367	19	T	C	C	58	58	MUC16	C	4	4
MUC16	94025	broad.mit.edu	36	19	8938545	8938545	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8938545G>T	uc002mkp.1	-	c.9901C>A	c.(9901-9903)CCA>ACA	p.P3301T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3302	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.123552	24.929535	60.852577	32	227	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8938545	8938545	10367	19	G	T	T	41	41	MUC16	T	3	3
MUC16	94025	broad.mit.edu	36	19	8944614	8944614	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8944614G>T	uc002mkp.1	-	c.8201C>A	c.(8200-8202)GCT>GAT	p.A2734D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2734	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.433333	332.327978	333.374833	117	153	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8944614	8944614	10367	19	G	T	T	34	34	MUC16	T	3	3
MUC16	94025	broad.mit.edu	36	19	8945311	8945311	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8945311G>A	uc002mkp.1	-	c.7504C>T	c.(7504-7506)CCA>TCA	p.P2502S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2502	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19												OREG0006612	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	0.396552	126.317481	127.405499	46	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8945311	8945311	10367	19	G	A	A	44	44	MUC16	A	2	2
MUC16	94025	broad.mit.edu	36	19	8945731	8945731	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8945731C>A	uc002mkp.1	-	c.7084G>T	c.(7084-7086)GAG>TAG	p.E2362*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2362	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.168067	30.198397	42.671865	20	99	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	8945731	8945731	10367	19	C	A	A	29	29	MUC16	A	5	3
MUC16	94025	broad.mit.edu	36	19	8949582	8949582	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8949582A>G	uc002mkp.1	-	c.3233T>C	c.(3232-3234)GTC>GCC	p.V1078A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1078	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.185185	110.847717	133.412673	45	198	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8949582	8949582	10367	19	A	G	G	10	10	MUC16	G	4	4
OR1M1	125963	broad.mit.edu	36	19	9065013	9065013	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9065013C>T	uc002mkq.1	+	c.93C>T	c.(91-93)TTC>TTT	p.F31F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.520202	305.935143	306.006319	103	95	CC		KEEP	---	---	---	---	capture			Silent	SNP	9065013	9065013	11374	19	C	T	T	32	32	OR1M1	T	2	2
OR7G2	390882	broad.mit.edu	36	19	9074144	9074144	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9074144T>C	uc002mkr.1	-	c.839A>G	c.(838-840)TAC>TGC	p.Y280C		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Esophageal Squamous(67;143 1448 28637 40648)								0.125	33.381985	56.440975	21	147	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9074144	9074144	11634	19	T	C	C	57	57	OR7G2	C	4	4
OR7G2	390882	broad.mit.edu	36	19	9074395	9074395	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9074395C>T	uc002mkr.1	-	c.588G>A	c.(586-588)CCG>CCA	p.P196P		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Esophageal Squamous(67;143 1448 28637 40648)								0.469697	166.82079	166.927391	62	70	CC		KEEP	---	---	---	---	capture			Silent	SNP	9074395	9074395	11634	19	C	T	T	27	27	OR7G2	T	1	1
ZNF317	57693	broad.mit.edu	36	19	9132492	9132492	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9132492G>A	uc002mku.2	+	c.1171G>A	c.(1171-1173)GAA>AAA	p.E391K	ZNF317_uc002mkv.2_Missense_Mutation_p.E250K|ZNF317_uc002mkw.2_Missense_Mutation_p.E359K|ZNF317_uc002mkx.2_Missense_Mutation_p.E306K|ZNF317_uc002mky.2_Missense_Mutation_p.E274K	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	391	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.160377	27.807624	39.449394	17	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9132492	9132492	18427	19	G	A	A	37	37	ZNF317	A	1	1
ARID3A	1820	broad.mit.edu	36	19	917721	917721	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:917721C>T	uc002lql.1	+	c.1348C>T	c.(1348-1350)CGG>TGG	p.R450W		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	450	Important for nuclear localization (By similarity).|REKLES.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)				Pancreas(29;54 1022 32760 50921)								0.148936	8.70862	14.257945	7	40	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	917721	917721	931	19	C	T	T	27	27	ARID3A	T	1	1
ZNF699	374879	broad.mit.edu	36	19	9268464	9268464	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9268464C>A	uc002mlc.1	-	c.616G>T	c.(616-618)GAT>TAT	p.D206Y		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	206	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.538462	673.615991	674.179448	238	204	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9268464	9268464	18696	19	C	A	A	30	30	ZNF699	A	3	3
ZNF559	84527	broad.mit.edu	36	19	9314717	9314717	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9314717T>G	uc002mle.2	+	c.1782T>G	c.(1780-1782)AAT>AAG	p.N594K	ZNF559_uc010dwk.1_Missense_Mutation_p.N299K|ZNF559_uc010dwl.1_Missense_Mutation_p.N299K|ZNF559_uc002mlf.2_Missense_Mutation_p.N299K|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwn.1_Missense_Mutation_p.N299K|ZNF559_uc010dwo.1_Intron|ZNF559_uc002mlg.1_Missense_Mutation_p.N530K|ZNF177_uc002mli.1_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.188498	147.152965	175.562956	59	254	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9314717	9314717	18585	19	T	G	G	52	52	ZNF559	G	4	4
ZNF177	7730	broad.mit.edu	36	19	9351226	9351226	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9351226C>A	uc002mli.1	+	c.184C>A	c.(184-186)CTG>ATG	p.L62M	ZNF177_uc002mlj.2_De_novo_Start_OutOfFrame|ZNF177_uc002mlk.1_Missense_Mutation_p.L62M	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	62	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.55	92.871192	93.000744	33	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9351226	9351226	18337	19	C	A	A	32	32	ZNF177	A	3	3
ZNF266	10781	broad.mit.edu	36	19	9385474	9385474	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9385474C>T	uc002mll.1	-	c.1127G>A	c.(1126-1128)GGA>GAA	p.G376E	ZNF266_uc002mlm.1_Missense_Mutation_p.G376E|ZNF266_uc002mln.1_Missense_Mutation_p.G376E|ZNF266_uc002mlo.1_Missense_Mutation_p.G376E|ZNF266_uc010dwp.1_Missense_Mutation_p.G376E|ZNF266_uc010dwq.1_Missense_Mutation_p.G376E	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.181818	100.113785	127.330328	52	234	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9385474	9385474	18397	19	C	T	T	30	30	ZNF266	T	2	2
ZNF560	147741	broad.mit.edu	36	19	9438318	9438318	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9438318C>T	uc002mlp.1	-	c.2305G>A	c.(2305-2307)GAA>AAA	p.E769K	ZNF560_uc010dwr.1_Missense_Mutation_p.E663K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	769	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|large_intestine(1)|liver(1)|pancreas(1)	4														0.482143	380.382727	380.461567	135	145	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9438318	9438318	18586	19	C	T	T	29	29	ZNF560	T	2	2
ZNF560	147741	broad.mit.edu	36	19	9438477	9438477	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9438477C>T	uc002mlp.1	-	c.2146G>A	c.(2146-2148)GAC>AAC	p.D716N	ZNF560_uc010dwr.1_Missense_Mutation_p.D610N	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	716	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|large_intestine(1)|liver(1)|pancreas(1)	4														0.169444	105.819014	143.097632	61	299	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9438477	9438477	18586	19	C	T	T	30	30	ZNF560	T	2	2
ZNF560	147741	broad.mit.edu	36	19	9438761	9438761	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9438761C>T	uc002mlp.1	-	c.1862G>A	c.(1861-1863)AGA>AAA	p.R621K	ZNF560_uc010dwr.1_Missense_Mutation_p.R515K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	621	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|large_intestine(1)|liver(1)|pancreas(1)	4														0.368644	490.895232	498.065551	174	298	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9438761	9438761	18586	19	C	T	T	32	32	ZNF560	T	2	2
ZNF560	147741	broad.mit.edu	36	19	9439462	9439462	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9439462C>T	uc002mlp.1	-	c.1161G>A	c.(1159-1161)GTG>GTA	p.V387V	ZNF560_uc010dwr.1_Silent_p.V281V	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	387	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|large_intestine(1)|liver(1)|pancreas(1)	4														0.195876	101.569993	126.709402	57	234	CC		KEEP	---	---	---	---	capture			Silent	SNP	9439462	9439462	18586	19	C	T	T	25	25	ZNF560	T	2	2
ZNF426	79088	broad.mit.edu	36	19	9500318	9500318	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9500318C>T	uc002mlq.1	-	c.1403G>A	c.(1402-1404)CGA>CAA	p.R468Q	ZNF426_uc010dws.1_Missense_Mutation_p.R430Q	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	468	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.133106	49.023726	87.317957	39	254	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9500318	9500318	18493	19	C	T	T	31	31	ZNF426	T	1	1
ZNF426	79088	broad.mit.edu	36	19	9500822	9500822	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9500822C>T	uc002mlq.1	-	c.899G>A	c.(898-900)CGA>CAA	p.R300Q	ZNF426_uc010dws.1_Missense_Mutation_p.R262Q	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	300	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.356725	323.041304	329.230715	122	220	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9500822	9500822	18493	19	C	T	T	31	31	ZNF426	T	1	1
ZNF426	79088	broad.mit.edu	36	19	9500964	9500964	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9500964C>T	uc002mlq.1	-	c.757G>A	c.(757-759)GAA>AAA	p.E253K	ZNF426_uc010dws.1_Missense_Mutation_p.E215K	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.370518	502.002643	509.403733	186	316	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9500964	9500964	18493	19	C	T	T	31	31	ZNF426	T	1	1
ZNF121	7675	broad.mit.edu	36	19	9537675	9537675	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9537675C>T	uc002mlt.1	-	c.1114G>A	c.(1114-1116)GAA>AAA	p.E372K	ZNF121_uc010dwt.1_Missense_Mutation_p.E372K	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	372	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.142857	27.03246	43.385634	19	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9537675	9537675	18310	19	C	T	T	31	31	ZNF121	T	1	1
ZNF561	93134	broad.mit.edu	36	19	9582137	9582137	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9582137C>A	uc002mlu.1	-	c.993G>T	c.(991-993)AAG>AAT	p.K331N	ZNF561_uc010dwu.1_Missense_Mutation_p.K331N	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	zinc finger protein 561	400	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.191429	118.790599	149.966173	67	283	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9582137	9582137	18587	19	C	A	A	32	32	ZNF561	A	3	3
CNN2	1265	broad.mit.edu	36	19	987425	987425	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:987425A>G	uc002lqu.1	+	c.518A>G	c.(517-519)AAC>AGC	p.N173S	CNN2_uc002lqt.1_Missense_Mutation_p.N134S|CNN2_uc010drz.1_Missense_Mutation_p.N25S|CNN2_uc002lqv.1_Missense_Mutation_p.N134S	NM_004368	NP_004359	Q99439	CNN2_HUMAN	calponin 2 isoform a	173	Calponin-like 1.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)												0.165468	53.442125	68.195936	23	116	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	987425	987425	3748	19	A	G	G	2	2	CNN2	G	4	4
COL5A3	50509	broad.mit.edu	36	19	9940118	9940118	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9940118C>A	uc002mmq.1	-	c.4257G>T	c.(4255-4257)GAG>GAT	p.E1419D		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1419	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9														0.166667	137.39764	194.335271	90	450	CC		KEEP	---	---	---	---	capture	Epithelial(33;7.11e-05)		Missense_Mutation	SNP	9940118	9940118	3836	19	C	A	A	32	32	COL5A3	A	3	3
COL5A3	50509	broad.mit.edu	36	19	9945894	9945894	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9945894G>A	uc002mmq.1	-	c.3457C>T	c.(3457-3459)CCA>TCA	p.P1153S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1153	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9														0.391111	240.758742	243.090646	88	137	GG		KEEP	---	---	---	---	capture	Epithelial(33;7.11e-05)		Missense_Mutation	SNP	9945894	9945894	3836	19	G	A	A	42	42	COL5A3	A	2	2
COL5A3	50509	broad.mit.edu	36	19	9975787	9975787	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9975787G>T	uc002mmq.1	-	c.629C>A	c.(628-630)CCT>CAT	p.P210H		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	210	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9														0.335079	162.223184	166.828908	64	127	GG		KEEP	---	---	---	---	capture	Epithelial(33;7.11e-05)		Missense_Mutation	SNP	9975787	9975787	3836	19	G	T	T	35	35	COL5A3	T	3	3
RDH8	50700	broad.mit.edu	36	19	9990502	9990502	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9990502C>T	uc002mmr.1	+	c.358C>T	c.(358-360)CGT>TGT	p.R120C		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	120					estrogen biosynthetic process|oxidation-reduction process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4					Vitamin A(DB00162)									0.180628	129.560905	166.192971	69	313	CC		KEEP	---	---	---	---	capture	Epithelial(33;4.24e-05)		Missense_Mutation	SNP	9990502	9990502	13665	19	C	T	T	23	23	RDH8	T	1	1
ABCA7	10347	broad.mit.edu	36	19	999895	999895	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:999895C>T	uc002lqw.2	+	c.2271C>T	c.(2269-2271)GGC>GGT	p.G757G	ABCA7_uc010dsb.1_Silent_p.G619G	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	757					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)												0.540541	55.216092	55.271892	20	17	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	999895	999895	38	19	C	T	T	26	26	ABCA7	T	2	2
AGL	178	broad.mit.edu	36	1	100112897	100112897	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:100112897G>T	uc001dsi.1	+	c.1025G>T	c.(1024-1026)AGA>ATA	p.R342I	AGL_uc001dsj.1_Missense_Mutation_p.R342I|AGL_uc001dsk.1_Missense_Mutation_p.R342I|AGL_uc001dsl.1_Missense_Mutation_p.R342I|AGL_uc001dsm.1_Missense_Mutation_p.R326I|AGL_uc001dsn.1_Missense_Mutation_p.R325I	NM_000642	NP_000635	P35573	GDE_HUMAN	amylo-1, 6-glucosidase,	342	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)	2		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)												0.241379	88.941051	99.580061	42	132	GG		KEEP	---	---	---	---	capture		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	Missense_Mutation	SNP	100112897	100112897	387	1	G	T	T	33	33	AGL	T	3	3
AGL	178	broad.mit.edu	36	1	100115839	100115839	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:100115839T>C	uc001dsi.1	+	c.1478T>C	c.(1477-1479)TTA>TCA	p.L493S	AGL_uc001dsj.1_Missense_Mutation_p.L493S|AGL_uc001dsk.1_Missense_Mutation_p.L493S|AGL_uc001dsl.1_Missense_Mutation_p.L493S|AGL_uc001dsm.1_Missense_Mutation_p.L477S|AGL_uc001dsn.1_Missense_Mutation_p.L476S	NM_000642	NP_000635	P35573	GDE_HUMAN	amylo-1, 6-glucosidase,	493	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)	2		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)												0.503145	282.913002	282.9145	80	79	TT		KEEP	---	---	---	---	capture		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	Missense_Mutation	SNP	100115839	100115839	387	1	T	C	C	61	61	AGL	C	4	4
AGL	178	broad.mit.edu	36	1	100122493	100122493	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:100122493G>C	uc001dsi.1	+	c.2444G>C	c.(2443-2445)AGT>ACT	p.S815T	AGL_uc001dsj.1_Missense_Mutation_p.S815T|AGL_uc001dsk.1_Missense_Mutation_p.S815T|AGL_uc001dsl.1_Missense_Mutation_p.S815T|AGL_uc001dsm.1_Missense_Mutation_p.S799T|AGL_uc001dsn.1_Missense_Mutation_p.S798T	NM_000642	NP_000635	P35573	GDE_HUMAN	amylo-1, 6-glucosidase,	815	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)	2		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)												0.178862	51.575999	63.51149	22	101	GG		KEEP	---	---	---	---	capture		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	Missense_Mutation	SNP	100122493	100122493	387	1	G	C	C	36	36	AGL	C	3	3
AGL	178	broad.mit.edu	36	1	100130656	100130656	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:100130656C>T	uc001dsi.1	+	c.3164C>T	c.(3163-3165)TCC>TTC	p.S1055F	AGL_uc001dsj.1_Missense_Mutation_p.S1055F|AGL_uc001dsk.1_Missense_Mutation_p.S1055F|AGL_uc001dsl.1_Missense_Mutation_p.S1055F|AGL_uc001dsm.1_Missense_Mutation_p.S1039F|AGL_uc001dsn.1_Missense_Mutation_p.S1038F	NM_000642	NP_000635	P35573	GDE_HUMAN	amylo-1, 6-glucosidase,	1055	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)	2		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)												0.2	45.86372	57.663999	28	112	CC		KEEP	---	---	---	---	capture		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	Missense_Mutation	SNP	100130656	100130656	387	1	C	T	T	30	30	AGL	T	2	2
SASS6	163786	broad.mit.edu	36	1	100323710	100323710	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:100323710C>T	uc001dsu.1	-	c.1837G>A	c.(1837-1839)GGA>AGA	p.G613R	SASS6_uc009wdz.1_Missense_Mutation_p.G446R	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	613					centriole replication	centriole				ovary(1)	1		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)												0.189922	108.223666	131.420378	49	209	CC		KEEP	---	---	---	---	capture		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	Missense_Mutation	SNP	100323710	100323710	14331	1	C	T	T	23	23	SASS6	T	1	1
SASS6	163786	broad.mit.edu	36	1	100359648	100359648	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:100359648T>C	uc001dsu.1	-	c.357A>G	c.(355-357)TCA>TCG	p.S119S	SASS6_uc009wdz.1_5'UTR	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	119					centriole replication	centriole				ovary(1)	1		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)												0.21978	96.111291	109.267593	40	142	TT		KEEP	---	---	---	---	capture		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	Silent	SNP	100359648	100359648	14331	1	T	C	C	59	59	SASS6	C	4	4
CCDC76	54482	broad.mit.edu	36	1	100386770	100386770	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:100386770C>A	uc001dsv.1	+	c.1252C>A	c.(1252-1254)CTT>ATT	p.L418I	CCDC76_uc009wea.1_Silent_p.G273G	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	418					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)												0.354167	139.980019	142.680832	51	93	CC		KEEP	---	---	---	---	capture		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	Missense_Mutation	SNP	100386770	100386770	2973	1	C	A	A	28	28	CCDC76	A	3	3
RTCD1	8634	broad.mit.edu	36	1	100515446	100515446	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:100515446C>T	uc001dtd.1	+	c.824C>T	c.(823-825)TCG>TTG	p.S275L	RTCD1_uc001dtc.1_Missense_Mutation_p.S262L	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	262					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)												0.175732	76.207337	99.903251	42	197	CC		KEEP	---	---	---	---	capture		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Missense_Mutation	SNP	100515446	100515446	14198	1	C	T	T	31	31	RTCD1	T	1	1
UBE4B	10277	broad.mit.edu	36	1	10089142	10089142	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10089142G>A	uc001aqs.2	+	c.1110G>A	c.(1108-1110)CAG>CAA	p.Q370Q	UBE4B_uc001aqr.2_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	370					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(1)	3		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)												0.512	382.595511	382.626781	128	122	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	Silent	SNP	10089142	10089142	17441	1	G	A	A	33	33	UBE4B	A	2	2
EXTL2	2135	broad.mit.edu	36	1	101115859	101115859	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:101115859G>T	uc001dtk.1	-	c.194C>A	c.(193-195)TCC>TAC	p.S65Y	EXTL2_uc001dtl.1_Missense_Mutation_p.S65Y|EXTL2_uc001dtm.1_Missense_Mutation_p.S65Y	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	multiple exostoses-like 2	65	Lumenal (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding				0		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)												0.205556	68.922762	83.367144	37	143	GG		KEEP	---	---	---	---	capture		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	Missense_Mutation	SNP	101115859	101115859	5520	1	G	T	T	41	41	EXTL2	T	3	3
EXTL2	2135	broad.mit.edu	36	1	101116004	101116004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:101116004G>A	uc001dtk.1	-	c.49C>T	c.(49-51)CGA>TGA	p.R17*	EXTL2_uc001dtl.1_Nonsense_Mutation_p.R17*|EXTL2_uc001dtm.1_Nonsense_Mutation_p.R17*	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	multiple exostoses-like 2	17	Cytoplasmic (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding				0		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)												0.112903	6.477928	15.651499	7	55	GG		KEEP	---	---	---	---	capture		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	Nonsense_Mutation	SNP	101116004	101116004	5520	1	G	A	A	37	37	EXTL2	A	5	1
UBE4B	10277	broad.mit.edu	36	1	10119803	10119803	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10119803T>G	uc001aqs.2	+	c.2316T>G	c.(2314-2316)AGT>AGG	p.S772R	UBE4B_uc001aqr.2_Missense_Mutation_p.S643R|UBE4B_uc001aqt.1_Missense_Mutation_p.S112R	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	772					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(1)	3		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)												0.389286	344.015079	347.020103	109	171	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	Missense_Mutation	SNP	10119803	10119803	17441	1	T	G	G	60	60	UBE4B	G	4	4
SLC30A7	148867	broad.mit.edu	36	1	101199995	101199995	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:101199995C>A	uc001dtn.1	+	c.866C>A	c.(865-867)TCT>TAT	p.S289Y	SLC30A7_uc001dto.1_Missense_Mutation_p.S289Y	NM_133496	NP_598003	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	289	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)				NSCLC(91;473 1491 3102 16827 21633)								0.178788	100.699521	132.77553	59	271	CC		KEEP	---	---	---	---	capture		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	Missense_Mutation	SNP	101199995	101199995	15057	1	C	A	A	32	32	SLC30A7	A	3	3
UBE4B	10277	broad.mit.edu	36	1	10143878	10143878	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10143878C>A	uc001aqs.2	+	c.3145C>A	c.(3145-3147)CAT>AAT	p.H1049N	UBE4B_uc001aqr.2_Missense_Mutation_p.H920N	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1049					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(1)	3		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)												0.481865	266.339943	266.396171	93	100	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	Missense_Mutation	SNP	10143878	10143878	17441	1	C	A	A	21	21	UBE4B	A	3	3
S1PR1	1901	broad.mit.edu	36	1	101477983	101477983	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:101477983G>T	uc001dud.2	+	c.855G>T	c.(853-855)AAG>AAT	p.K285N	S1PR1_uc009weg.1_Missense_Mutation_p.K285N	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	285	Extracellular (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)	2														0.206323	232.721373	280.829573	124	477	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101477983	101477983	14273	1	G	T	T	33	33	S1PR1	T	3	3
KIF1B	23095	broad.mit.edu	36	1	10306699	10306699	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10306699G>T	uc001aqz.2	+	c.2529G>T	c.(2527-2529)GAG>GAT	p.E843D	KIF1B_uc001aqw.2_Missense_Mutation_p.E797D|KIF1B_uc001aqx.2_Missense_Mutation_p.E843D|KIF1B_uc001aqy.2_Missense_Mutation_p.E817D|KIF1B_uc001ara.2_Missense_Mutation_p.E803D|KIF1B_uc001arb.2_Missense_Mutation_p.E829D	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	843	Potential.				anterograde axon cargo transport|apoptosis|nerve-nerve synaptic transmission|neuromuscular synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)	2	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)												0.19802	74.367869	91.538728	40	162	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	10306699	10306699	8595	1	G	T	T	33	33	KIF1B	T	3	3
COL11A1	1301	broad.mit.edu	36	1	103116199	103116199	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:103116199G>A	uc001dum.1	-	c.5421C>T	c.(5419-5421)TTC>TTT	p.F1807F	COL11A1_uc001duk.1_Silent_p.F991F|COL11A1_uc001dul.1_Silent_p.F1795F|COL11A1_uc001dun.1_Silent_p.F1756F|COL11A1_uc009weh.1_Silent_p.F1679F	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1795	Fibrillar collagen NC1.				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)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)												0.1875	68.47543	86.050539	36	156	GG		KEEP	---	---	---	---	capture		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	Silent	SNP	103116199	103116199	3805	1	G	A	A	37	37	COL11A1	A	1	1
COL11A1	1301	broad.mit.edu	36	1	103125189	103125189	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:103125189A>G	uc001dum.1	-	c.4656T>C	c.(4654-4656)GGT>GGC	p.G1552G	COL11A1_uc001duk.1_Silent_p.G736G|COL11A1_uc001dul.1_Silent_p.G1540G|COL11A1_uc001dun.1_Silent_p.G1501G|COL11A1_uc009weh.1_Silent_p.G1424G	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1540	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)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)												0.203509	131.591751	154.867329	58	227	AA		KEEP	---	---	---	---	capture		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	Silent	SNP	103125189	103125189	3805	1	A	G	G	6	6	COL11A1	G	4	4
COL11A1	1301	broad.mit.edu	36	1	103244223	103244223	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:103244223G>T	uc001dum.1	-	c.1816C>A	c.(1816-1818)CCT>ACT	p.P606T	COL11A1_uc001duk.1_5'UTR|COL11A1_uc001dul.1_Missense_Mutation_p.P594T|COL11A1_uc001dun.1_Missense_Mutation_p.P555T|COL11A1_uc009weh.1_Missense_Mutation_p.P478T	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	594	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)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)												0.454545	189.953281	190.211225	65	78	GG		KEEP	---	---	---	---	capture		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	Missense_Mutation	SNP	103244223	103244223	3805	1	G	T	T	44	44	COL11A1	T	3	3
COL11A1	1301	broad.mit.edu	36	1	103244453	103244453	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:103244453G>A	uc001dum.1	-	c.1726C>T	c.(1726-1728)CGA>TGA	p.R576*	COL11A1_uc001duk.1_5'UTR|COL11A1_uc001dul.1_Nonsense_Mutation_p.R564*|COL11A1_uc001dun.1_Nonsense_Mutation_p.R525*|COL11A1_uc009weh.1_Nonsense_Mutation_p.R448*	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	564	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)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)												0.167785	43.075053	58.664156	25	124	GG		KEEP	---	---	---	---	capture		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	Nonsense_Mutation	SNP	103244453	103244453	3805	1	G	A	A	37	37	COL11A1	A	5	1
KIF1B	23095	broad.mit.edu	36	1	10343655	10343655	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10343655A>C	uc001aqz.2	+	c.4137A>C	c.(4135-4137)GAA>GAC	p.E1379D	KIF1B_uc001aqw.2_Missense_Mutation_p.E1333D|KIF1B_uc001aqx.2_Missense_Mutation_p.E1379D|KIF1B_uc001aqy.2_Missense_Mutation_p.E1353D|KIF1B_uc001ara.2_Missense_Mutation_p.E1339D|KIF1B_uc001arb.2_Missense_Mutation_p.E1365D	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1379					anterograde axon cargo transport|apoptosis|nerve-nerve synaptic transmission|neuromuscular synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)	2	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)												0.223529	106.267984	118.206798	38	132	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	10343655	10343655	8595	1	A	C	C	1	1	KIF1B	C	4	4
KIF1B	23095	broad.mit.edu	36	1	10348127	10348127	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10348127C>T	uc001aqz.2	+	c.4586C>T	c.(4585-4587)TCG>TTG	p.S1529L	KIF1B_uc001aqw.2_Missense_Mutation_p.S1483L|KIF1B_uc001aqx.2_Missense_Mutation_p.S1529L|KIF1B_uc001aqy.2_Missense_Mutation_p.S1503L|KIF1B_uc001ara.2_Missense_Mutation_p.S1489L|KIF1B_uc001arb.2_Missense_Mutation_p.S1515L	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1529					anterograde axon cargo transport|apoptosis|nerve-nerve synaptic transmission|neuromuscular synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)	2	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)												0.223404	87.245695	100.477277	42	146	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	10348127	10348127	8595	1	C	T	T	31	31	KIF1B	T	1	1
CASZ1	54897	broad.mit.edu	36	1	10622618	10622618	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10622618C>T	uc001aro.1	-	c.4248G>A	c.(4246-4248)CGG>CGA	p.R1416R		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)												0.532787	186.872624	186.986588	65	57	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	Silent	SNP	10622618	10622618	2804	1	C	T	T	30	30	CASZ1	T	2	2
CASZ1	54897	broad.mit.edu	36	1	10630711	10630711	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10630711C>T	uc001aro.1	-	c.3231G>A	c.(3229-3231)GAG>GAA	p.E1077E	CASZ1_uc001arp.1_Silent_p.E1077E	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1077					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)												0.25	11.870177	13.00337	5	15	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	Silent	SNP	10630711	10630711	2804	1	C	T	T	32	32	CASZ1	T	2	2
CASZ1	54897	broad.mit.edu	36	1	10633358	10633358	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10633358A>C	uc001aro.1	-	c.2858T>G	c.(2857-2859)CTT>CGT	p.L953R	CASZ1_uc001arp.1_Missense_Mutation_p.L953R	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	953					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)												0.496269	411.461506	411.46482	133	135	AA		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	Missense_Mutation	SNP	10633358	10633358	2804	1	A	C	C	3	3	CASZ1	C	4	4
CASZ1	54897	broad.mit.edu	36	1	10648092	10648092	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10648092C>T	uc001aro.1	-	c.140G>A	c.(139-141)CGA>CAA	p.R47Q	CASZ1_uc001arp.1_Missense_Mutation_p.R47Q|CASZ1_uc009vmx.1_Missense_Mutation_p.R71Q	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)												0.336634	86.050684	88.419621	34	67	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	Missense_Mutation	SNP	10648092	10648092	2804	1	C	T	T	31	31	CASZ1	T	1	1
CASZ1	54897	broad.mit.edu	36	1	10648166	10648166	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10648166C>T	uc001aro.1	-	c.66G>A	c.(64-66)GCG>GCA	p.A22A	CASZ1_uc001arp.1_Silent_p.A22A|CASZ1_uc009vmx.1_Silent_p.A46A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)												0.432432	43.893533	44.040818	16	21	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	Silent	SNP	10648166	10648166	2804	1	C	T	T	27	27	CASZ1	T	1	1
VAV3	10451	broad.mit.edu	36	1	108308940	108308940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:108308940C>T	uc001dvk.1	-	c.75G>A	c.(73-75)TGG>TGA	p.W25*	VAV3_uc001dvl.1_5'Flank	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	25	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(4)|lung(2)|breast(2)	8		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)												0.151515	14.083275	21.712062	10	56	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	Nonsense_Mutation	SNP	108308940	108308940	17698	1	C	T	T	22	22	VAV3	T	5	2
SLC25A24	29957	broad.mit.edu	36	1	108501655	108501655	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:108501655G>A	uc001dvn.2	-	c.621C>T	c.(619-621)GTC>GTT	p.V207V	SLC25A24_uc001dvm.1_Silent_p.V188V	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	207	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)												0.191489	70.581108	87.314735	36	152	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	Silent	SNP	108501655	108501655	14984	1	G	A	A	33	33	SLC25A24	A	2	2
PRPF38B	55119	broad.mit.edu	36	1	109043371	109043371	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109043371C>T	uc001dvv.2	+	c.847C>T	c.(847-849)CGG>TGG	p.R283W	PRPF38B_uc001dvw.2_Missense_Mutation_p.R172W	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	283	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)												0.424893	269.336923	270.491649	99	134	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	Missense_Mutation	SNP	109043371	109043371	13011	1	C	T	T	31	31	PRPF38B	T	1	1
PRPF38B	55119	broad.mit.edu	36	1	109043884	109043884	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109043884G>T	uc001dvv.2	+	c.1360G>T	c.(1360-1362)GAG>TAG	p.E454*	PRPF38B_uc001dvw.2_Nonsense_Mutation_p.E343*	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	454					mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)												0.172414	16.108723	21.995862	10	48	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	Nonsense_Mutation	SNP	109043884	109043884	13011	1	G	T	T	33	33	PRPF38B	T	5	3
FNDC7	163479	broad.mit.edu	36	1	109066630	109066630	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109066630C>A	uc001dvx.1	+	c.50C>A	c.(49-51)TCC>TAC	p.S17Y		NM_173532	NP_775803	Q5VTL7	FNDC7_HUMAN	Homo sapiens cDNA FLJ35838 fis, clone TESTI2006633.	251	Fibronectin type-III 3.					extracellular region				ovary(1)	1		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)												0.189349	56.836296	72.072343	32	137	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	Missense_Mutation	SNP	109066630	109066630	6215	1	C	A	A	30	30	FNDC7	A	3	3
FNDC7	163479	broad.mit.edu	36	1	109072154	109072154	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109072154C>T	uc001dvx.1	+	c.614C>T	c.(613-615)TCA>TTA	p.S205L		NM_173532	NP_775803	Q5VTL7	FNDC7_HUMAN	Homo sapiens cDNA FLJ35838 fis, clone TESTI2006633.	439	Fibronectin type-III 5.					extracellular region				ovary(1)	1		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)												0.382353	340.284033	344.437725	130	210	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	Missense_Mutation	SNP	109072154	109072154	6215	1	C	T	T	29	29	FNDC7	T	2	2
STXBP3	6814	broad.mit.edu	36	1	109140504	109140504	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109140504C>A	uc001dvy.1	+	c.1236C>A	c.(1234-1236)ATC>ATA	p.I412I	STXBP3_uc001dvz.1_Non-coding_Transcript	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	412					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)												0.242424	33.76064	37.759437	16	50	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	Silent	SNP	109140504	109140504	15874	1	C	A	A	32	32	STXBP3	A	3	3
GPSM2	29899	broad.mit.edu	36	1	109242162	109242162	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109242162G>A	uc001dwd.2	+	c.452G>A	c.(451-453)AGT>AAT	p.S151N		NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	158	TPR 4.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)												0.424242	347.381712	348.871382	126	171	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	Missense_Mutation	SNP	109242162	109242162	7011	1	G	A	A	36	36	GPSM2	A	2	2
CLCC1	23155	broad.mit.edu	36	1	109283880	109283880	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109283880A>G	uc001dwe.1	-	c.942T>C	c.(940-942)CAT>CAC	p.H314H	CLCC1_uc001dwg.1_Silent_p.H264H|CLCC1_uc001dwf.1_Silent_p.H314H|CLCC1_uc009wes.1_Silent_p.H193H|CLCC1_uc009wet.1_Silent_p.H129H	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	314						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)												0.373016	153.005154	154.784998	47	79	AA		KEEP	---	---	---	---	capture		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	Silent	SNP	109283880	109283880	3596	1	A	G	G	16	16	CLCC1	G	4	4
CLCC1	23155	broad.mit.edu	36	1	109288060	109288060	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109288060T>C	uc001dwe.1	-	c.482A>G	c.(481-483)AAT>AGT	p.N161S	CLCC1_uc001dwg.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.N161S|CLCC1_uc009wes.1_Intron|CLCC1_uc009wet.1_Intron|CLCC1_uc001dwh.1_Missense_Mutation_p.N161S	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	161						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)												0.162338	56.088701	72.770886	25	129	TT		KEEP	---	---	---	---	capture		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	Missense_Mutation	SNP	109288060	109288060	3596	1	T	C	C	52	52	CLCC1	C	4	4
CLCC1	23155	broad.mit.edu	36	1	109293978	109293978	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109293978G>T	uc001dwe.1	-	c.218C>A	c.(217-219)TCT>TAT	p.S73Y	CLCC1_uc001dwg.1_Missense_Mutation_p.S73Y|CLCC1_uc001dwf.1_Missense_Mutation_p.S73Y|CLCC1_uc009wes.1_Missense_Mutation_p.S73Y|CLCC1_uc009wet.1_Missense_Mutation_p.S73Y|CLCC1_uc001dwh.1_Missense_Mutation_p.S73Y	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	73						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)												0.401786	119.940565	120.88848	45	67	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	Missense_Mutation	SNP	109293978	109293978	3596	1	G	T	T	33	33	CLCC1	T	3	3
WDR47	22911	broad.mit.edu	36	1	109318893	109318893	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109318893G>A	uc001dwi.1	-	c.2408C>T	c.(2407-2409)GCA>GTA	p.A803V	WDR47_uc001dwj.1_Missense_Mutation_p.A802V	NM_014969	NP_055784	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 2	802	WD 5.									ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)												0.176471	15.040244	20.075962	9	42	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	Missense_Mutation	SNP	109318893	109318893	17873	1	G	A	A	46	46	WDR47	A	2	2
KIAA1324	57535	broad.mit.edu	36	1	109508736	109508736	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109508736C>T	uc001dwq.1	+	c.367C>T	c.(367-369)CGG>TGG	p.R123W	KIAA1324_uc009wex.1_Missense_Mutation_p.R123W|KIAA1324_uc009wey.1_Missense_Mutation_p.R123W	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535	123	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)												0.478261	279.514892	279.599213	99	108	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	Missense_Mutation	SNP	109508736	109508736	8532	1	C	T	T	31	31	KIAA1324	T	1	1
KIAA1324	57535	broad.mit.edu	36	1	109516024	109516024	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109516024C>T	uc001dwq.1	+	c.481C>T	c.(481-483)CCC>TCC	p.P161S	KIAA1324_uc009wex.1_Missense_Mutation_p.P161S|KIAA1324_uc009wey.1_Missense_Mutation_p.P161S	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535	161	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)												0.221374	59.396424	68.772097	29	102	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	Missense_Mutation	SNP	109516024	109516024	8532	1	C	T	T	30	30	KIAA1324	T	2	2
CELSR2	1952	broad.mit.edu	36	1	109595891	109595891	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109595891A>G	uc001dxa.2	+	c.1667A>G	c.(1666-1668)AAC>AGC	p.N556S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	556	Cadherin 4.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)				NSCLC(158;1285 2011 34800 34852 42084)								0.443662	208.113488	208.504845	63	79	AA		KEEP	---	---	---	---	capture		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	Missense_Mutation	SNP	109595891	109595891	3355	1	A	G	G	2	2	CELSR2	G	4	4
CELSR2	1952	broad.mit.edu	36	1	109610273	109610273	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109610273G>A	uc001dxa.2	+	c.5935G>A	c.(5935-5937)GCG>ACG	p.A1979T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1979	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)				NSCLC(158;1285 2011 34800 34852 42084)								0.420635	155.156519	155.847996	53	73	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	Missense_Mutation	SNP	109610273	109610273	3355	1	G	A	A	34	34	CELSR2	A	2	2
CELSR2	1952	broad.mit.edu	36	1	109616995	109616995	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109616995G>A	uc001dxa.2	+	c.8161G>A	c.(8161-8163)GAC>AAC	p.D2721N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2721	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)				NSCLC(158;1285 2011 34800 34852 42084)								0.45	195.664968	196.027153	72	88	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	Missense_Mutation	SNP	109616995	109616995	3355	1	G	A	A	37	37	CELSR2	A	1	1
MYBPHL	343263	broad.mit.edu	36	1	109640391	109640391	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109640391G>A	uc001dxk.1	-	c.855C>T	c.(853-855)CGC>CGT	p.R285R	MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	285	Ig-like C2-type 2.									ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)												0.226519	81.578978	94.017312	41	140	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	Silent	SNP	109640391	109640391	10410	1	G	A	A	38	38	MYBPHL	A	1	1
MYBPHL	343263	broad.mit.edu	36	1	109641261	109641261	+	Silent	SNP	C	T	T	rs3850615	by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109641261C>T	uc001dxk.1	-	c.504G>A	c.(502-504)CCG>CCA	p.P168P	MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	168	Fibronectin type-III.									ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)												0.184416	118.992089	154.921224	71	314	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	Silent	SNP	109641261	109641261	10410	1	C	T	T	27	27	MYBPHL	T	1	1
SORT1	6272	broad.mit.edu	36	1	109661005	109661005	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109661005G>A	uc001dxm.1	-	c.2240C>T	c.(2239-2241)CCG>CTG	p.P747L		NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	747	Interactions with LRPAP1 and NGFB.|Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|multicellular organismal development|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)												0.402715	248.228753	250.057426	89	132	GG		KEEP	---	---	---	---	capture		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	Missense_Mutation	SNP	109661005	109661005	15435	1	G	A	A	39	39	SORT1	A	1	1
SYPL2	284612	broad.mit.edu	36	1	109819828	109819828	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109819828G>A	uc001dxp.1	+	c.232G>A	c.(232-234)GTT>ATT	p.V78I	SYPL2_uc001dxo.2_Missense_Mutation_p.V78I|SYPL2_uc001dxq.2_5'Flank	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	mitsugumin 29	78	Vesicular (Potential).|MARVEL.					integral to membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)												0.261194	80.559937	87.479997	35	99	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	Missense_Mutation	SNP	109819828	109819828	15984	1	G	A	A	40	40	SYPL2	A	1	1
AMIGO1	57463	broad.mit.edu	36	1	109851868	109851868	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109851868C>T	uc001dxx.2	-	c.1190G>A	c.(1189-1191)CGC>CAC	p.R397H	AMIGO1_uc009wfe.1_Missense_Mutation_p.R397H	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein	397	Cytoplasmic (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)												0.503704	191.627826	191.629937	68	67	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	Missense_Mutation	SNP	109851868	109851868	578	1	C	T	T	27	27	AMIGO1	T	1	1
GPR61	83873	broad.mit.edu	36	1	109887936	109887936	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109887936G>A	uc001dxy.2	+	c.769G>A	c.(769-771)GAA>AAA	p.E257K	GPR61_uc009wff.1_Missense_Mutation_p.E257K	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	257	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)												0.44843	261.56539	262.079951	100	123	GG		KEEP	---	---	---	---	capture		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	Missense_Mutation	SNP	109887936	109887936	6977	1	G	A	A	37	37	GPR61	A	1	1
GPR61	83873	broad.mit.edu	36	1	109888088	109888088	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109888088C>A	uc001dxy.2	+	c.921C>A	c.(919-921)CAC>CAA	p.H307Q	GPR61_uc009wff.1_Missense_Mutation_p.H307Q	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	307	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)												0.273063	192.303831	204.904287	74	197	CC		KEEP	---	---	---	---	capture		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	Missense_Mutation	SNP	109888088	109888088	6977	1	C	A	A	18	18	GPR61	A	3	3
GSTM3	2947	broad.mit.edu	36	1	110081680	110081680	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110081680G>T	uc001dyo.1	-	c.501C>A	c.(499-501)ATC>ATA	p.I167I	GSTM3_uc001dyp.1_Silent_p.I164I|GSTM3_uc009wfl.1_Silent_p.I167I	NM_000849	NP_000840	P21266	GSTM3_HUMAN	glutathione S-transferase mu 3	167	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding				0		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)			Glutathione(DB00143)									0.492754	282.918326	282.928198	102	105	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Silent	SNP	110081680	110081680	7119	1	G	T	T	33	33	GSTM3	T	3	3
GSTM3	2947	broad.mit.edu	36	1	110082482	110082482	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110082482C>A	uc001dyo.1	-	c.219G>T	c.(217-219)AAG>AAT	p.K73N	GSTM3_uc001dyp.1_Missense_Mutation_p.K70N|GSTM3_uc009wfl.1_Missense_Mutation_p.K73N	NM_000849	NP_000840	P21266	GSTM3_HUMAN	glutathione S-transferase mu 3	73	GST N-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding				0		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)			Glutathione(DB00143)									0.174497	43.049524	57.958038	26	123	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Missense_Mutation	SNP	110082482	110082482	7119	1	C	A	A	32	32	GSTM3	A	3	3
EPS8L3	79574	broad.mit.edu	36	1	110101980	110101980	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110101980G>A	uc001dyq.1	-	c.864C>T	c.(862-864)TGC>TGT	p.C288C	EPS8L3_uc001dys.1_Silent_p.C287C|EPS8L3_uc001dyr.1_Silent_p.C287C|EPS8L3_uc009wfm.1_Silent_p.C254C|EPS8L3_uc009wfn.1_Silent_p.C262C|EPS8L3_uc009wfo.1_Silent_p.C234C	NM_139053	NP_620641	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	287						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)												0.444444	328.560004	329.214538	108	135	GG		KEEP	---	---	---	---	capture		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	Silent	SNP	110101980	110101980	5390	1	G	A	A	34	34	EPS8L3	A	2	2
AHCYL1	10768	broad.mit.edu	36	1	110362606	110362606	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110362606C>T	uc001dyx.1	+	c.1212C>T	c.(1210-1212)ATC>ATT	p.I404I	AHCYL1_uc001dyy.1_Silent_p.I357I	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	404	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)												0.432	151.328269	151.832353	54	71	CC		KEEP	---	---	---	---	capture		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	Silent	SNP	110362606	110362606	413	1	C	T	T	31	31	AHCYL1	T	1	1
FAM40A	85369	broad.mit.edu	36	1	110383561	110383561	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110383561C>T	uc001dza.1	+	c.482C>T	c.(481-483)TCG>TTG	p.S161L	FAM40A_uc001dyz.1_Missense_Mutation_p.S66L|FAM40A_uc009wfp.1_5'UTR	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	161						nucleus	protein binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)												0.5	97.846154	97.846154	34	34	CC		KEEP	---	---	---	---	capture		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	Missense_Mutation	SNP	110383561	110383561	5781	1	C	T	T	31	31	FAM40A	T	1	1
FAM40A	85369	broad.mit.edu	36	1	110395137	110395137	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110395137C>T	uc001dza.1	+	c.1993C>T	c.(1993-1995)CTC>TTC	p.L665F	FAM40A_uc001dyz.1_Missense_Mutation_p.L570F|FAM40A_uc009wfp.1_Missense_Mutation_p.L489F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	665						nucleus	protein binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)												0.212121	51.819128	59.403655	21	78	CC		KEEP	---	---	---	---	capture		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	Missense_Mutation	SNP	110395137	110395137	5781	1	C	T	T	24	24	FAM40A	T	2	2
SLC6A17	388662	broad.mit.edu	36	1	110511221	110511221	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110511221G>T	uc009wfq.1	+	c.147G>T	c.(145-147)AAG>AAT	p.K49N		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	49	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)												0.388889	36.138927	36.529121	14	22	GG		KEEP	---	---	---	---	capture		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	Missense_Mutation	SNP	110511221	110511221	15177	1	G	T	T	35	35	SLC6A17	T	3	3
SLC6A17	388662	broad.mit.edu	36	1	110542381	110542381	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110542381G>A	uc009wfq.1	+	c.1976G>A	c.(1975-1977)CGC>CAC	p.R659H		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	659	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)												0.533981	158.553936	158.661464	55	48	GG		KEEP	---	---	---	---	capture		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	Missense_Mutation	SNP	110542381	110542381	15177	1	G	A	A	38	38	SLC6A17	A	1	1
SLC6A17	388662	broad.mit.edu	36	1	110542523	110542523	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110542523C>T	uc009wfq.1	+	c.2118C>T	c.(2116-2118)AGC>AGT	p.S706S		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	706	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)												0.445498	249.509733	250.056372	94	117	CC		KEEP	---	---	---	---	capture		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	Silent	SNP	110542523	110542523	15177	1	C	T	T	27	27	SLC6A17	T	1	1
EXOSC10	5394	broad.mit.edu	36	1	11054773	11054773	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11054773C>A	uc001asa.1	-	c.2200G>T	c.(2200-2202)GAC>TAC	p.D734Y	EXOSC10_uc001asb.1_Missense_Mutation_p.D709Y	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	734					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)				Colon(179;105 1987 14326 27364 29542)								0.363946	271.022397	275.818695	107	187	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	Missense_Mutation	SNP	11054773	11054773	5507	1	C	A	A	32	32	EXOSC10	A	3	3
EXOSC10	5394	broad.mit.edu	36	1	11056602	11056602	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11056602G>A	uc001asa.1	-	c.2133C>T	c.(2131-2133)TTC>TTT	p.F711F	EXOSC10_uc001asb.1_Intron	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	711					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)				Colon(179;105 1987 14326 27364 29542)								0.420561	124.854039	125.443491	45	62	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	Silent	SNP	11056602	11056602	5507	1	G	A	A	37	37	EXOSC10	A	1	1
KCNC4	3749	broad.mit.edu	36	1	110567930	110567930	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110567930G>A	uc009wfr.1	+	c.1500G>A	c.(1498-1500)GCG>GCA	p.A500A	KCNC4_uc001dzf.1_Silent_p.A500A|KCNC4_uc001dzg.1_Silent_p.A500A|KCNC4_uc001dzh.1_Silent_p.A500A|KCNC4_uc001dzi.1_Non-coding_Transcript	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	500	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)												0.182692	65.850112	85.504079	38	170	GG		KEEP	---	---	---	---	capture		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	Silent	SNP	110567930	110567930	8322	1	G	A	A	38	38	KCNC4	A	1	1
TTLL10	254173	broad.mit.edu	36	1	1106988	1106988	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1106988G>T	uc001acy.1	+	c.760G>T	c.(760-762)GAA>TAA	p.E254*	TTLL10_uc001acz.1_Nonsense_Mutation_p.E181*	NM_153254	NP_694986	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	254	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)												0.304348	15.115435	15.902006	7	16	GG		KEEP	---	---	---	---	capture		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Nonsense_Mutation	SNP	1106988	1106988	17278	1	G	T	T	41	41	TTLL10	T	5	3
EXOSC10	5394	broad.mit.edu	36	1	11080741	11080741	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11080741G>A	uc001asa.1	-	c.171C>T	c.(169-171)GGC>GGT	p.G57G	EXOSC10_uc001asb.1_Silent_p.G57G|EXOSC10_uc009vmy.1_Silent_p.G57G	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	57					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)				Colon(179;105 1987 14326 27364 29542)								0.246032	68.361703	75.764287	31	95	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	Silent	SNP	11080741	11080741	5507	1	G	A	A	38	38	EXOSC10	A	1	1
KCNA10	3744	broad.mit.edu	36	1	110862479	110862479	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110862479G>A	uc001dzt.1	-	c.454C>T	c.(454-456)CGG>TGG	p.R152W		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	152						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)												0.47644	251.898982	251.991506	91	100	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	110862479	110862479	8307	1	G	A	A	37	37	KCNA10	A	1	1
C1orf103	55791	broad.mit.edu	36	1	111294050	111294050	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:111294050C>A	uc001eaa.1	-	c.1815G>T	c.(1813-1815)AAG>AAT	p.K605N	C1orf103_uc001dzz.1_Missense_Mutation_p.K69N|C1orf103_uc001eab.1_Missense_Mutation_p.K69N|C1orf103_uc001eac.1_Missense_Mutation_p.K69N	NM_018372	NP_060842	Q5T3J3	CA103_HUMAN	receptor-interacting factor 1 isoform 1	605							protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)												0.231003	156.99881	178.842747	76	253	CC		KEEP	---	---	---	---	capture		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	Missense_Mutation	SNP	111294050	111294050	2044	1	C	A	A	32	32	C1orf103	A	3	3
DENND2D	79961	broad.mit.edu	36	1	111543773	111543773	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:111543773G>A	uc001eak.1	-	c.238C>T	c.(238-240)CCC>TCC	p.P80S	DENND2D_uc001eal.1_Missense_Mutation_p.P77S	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	80	UDENN.									ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)												0.430348	486.471688	488.178133	173	229	GG		KEEP	---	---	---	---	capture		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	Missense_Mutation	SNP	111543773	111543773	4610	1	G	A	A	41	41	DENND2D	A	2	2
DENND2D	79961	broad.mit.edu	36	1	111544559	111544559	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:111544559G>A	uc001eak.1	-	c.46C>T	c.(46-48)CGA>TGA	p.R16*	DENND2D_uc001eal.1_Intron	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	16										ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)												0.441176	45.221023	45.323381	15	19	GG		KEEP	---	---	---	---	capture		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	Nonsense_Mutation	SNP	111544559	111544559	4610	1	G	A	A	39	39	DENND2D	A	5	1
CHI3L2	1117	broad.mit.edu	36	1	111575007	111575007	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:111575007C>T	uc001eam.1	+	c.191C>T	c.(190-192)GCC>GTC	p.A64V	CHI3L2_uc001ean.1_Missense_Mutation_p.A54V|CHI3L2_uc001eao.1_5'UTR|CHI3L2_uc009wga.1_5'UTR	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	chitinase 3-like 2 isoform a	64					chitin catabolic process	extracellular space	cation binding|chitinase activity			central_nervous_system(1)	1		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)												0.472868	177.563466	177.646096	61	68	CC		KEEP	---	---	---	---	capture		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	Missense_Mutation	SNP	111575007	111575007	3475	1	C	T	T	26	26	CHI3L2	T	2	2
CHI3L2	1117	broad.mit.edu	36	1	111586500	111586500	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:111586500C>A	uc001eam.1	+	c.1164C>A	c.(1162-1164)GGC>GGA	p.G388G	CHI3L2_uc001ean.1_Silent_p.G378G|CHI3L2_uc001eao.1_Silent_p.G309G|CHI3L2_uc009wga.1_Silent_p.G270G	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	chitinase 3-like 2 isoform a	388					chitin catabolic process	extracellular space	cation binding|chitinase activity			central_nervous_system(1)	1		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)												0.153558	58.48053	89.159925	41	226	CC		KEEP	---	---	---	---	capture		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	Silent	SNP	111586500	111586500	3475	1	C	A	A	28	28	CHI3L2	A	3	3
CHIA	27159	broad.mit.edu	36	1	111662691	111662691	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:111662691C>T	uc001eas.1	+	c.783C>T	c.(781-783)ATC>ATT	p.I261I	CHIA_uc001ear.1_Silent_p.I153I|CHIA_uc001eaq.1_Silent_p.I153I|CHIA_uc009wgc.1_Silent_p.I153I|CHIA_uc001eat.1_Silent_p.I100I|CHIA_uc001eav.1_Silent_p.I100I|CHIA_uc001eau.1_Silent_p.I100I|CHIA_uc009wgd.1_Silent_p.I100I	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	chitinase, acidic isoform c	261					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)												0.460751	380.070841	380.465727	135	158	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	Silent	SNP	111662691	111662691	3476	1	C	T	T	31	31	CHIA	T	1	1
ATP5F1	515	broad.mit.edu	36	1	111794007	111794007	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:111794007C>T	uc009wgf.1	+	c.507C>T	c.(505-507)TTC>TTT	p.F169F	ATP5F1_uc001ebc.1_Silent_p.F22F|ATP5F1_uc001ebd.2_Non-coding_Transcript|WDR77_uc001ebb.1_5'Flank	NM_001688	NP_001679	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	22					ATP catabolic process|mitochondrial ATP synthesis coupled proton transport|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)												0.196429	132.819886	161.721607	66	270	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	111794007	111794007	1171	1	C	T	T	30	30	ATP5F1	T	2	2
C1orf162	128346	broad.mit.edu	36	1	111822202	111822202	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:111822202C>A	uc001ebe.1	+	c.402C>A	c.(400-402)CAC>CAA	p.H134Q		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	hypothetical protein LOC128346	134						integral to membrane				ovary(1)	1		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)												0.234783	121.827763	136.634351	54	176	CC		KEEP	---	---	---	---	capture		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	Missense_Mutation	SNP	111822202	111822202	2077	1	C	A	A	20	20	C1orf162	A	3	3
C1orf183	55924	broad.mit.edu	36	1	112071116	112071116	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:112071116G>T	uc001ebo.1	-	c.891C>A	c.(889-891)GTC>GTA	p.V297V	C1orf183_uc001ebp.1_Silent_p.V282V	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	hypothetical protein LOC55924 isoform 1	297										ovary(2)	2		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)												0.177914	194.84626	258.607766	116	536	GG		KEEP	---	---	---	---	capture		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)	Silent	SNP	112071116	112071116	2086	1	G	T	T	33	33	C1orf183	T	3	3
DDX20	11218	broad.mit.edu	36	1	112110334	112110334	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:112110334T>C	uc001ebs.1	+	c.1765T>C	c.(1765-1767)TTG>CTG	p.L589L	DDX20_uc001ebt.1_Silent_p.L197L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	589					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)												0.468531	463.334888	463.580475	134	152	TT		KEEP	---	---	---	---	capture		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)	Silent	SNP	112110334	112110334	4519	1	T	C	C	60	60	DDX20	C	4	4
KCND3	3752	broad.mit.edu	36	1	112121289	112121289	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:112121289G>A	uc001ebu.1	-	c.1648C>T	c.(1648-1650)CGT>TGT	p.R550C	KCND3_uc001ebv.1_Missense_Mutation_p.R531C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	550	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)												0.159091	53.191393	77.556764	35	185	GG		KEEP	---	---	---	---	capture		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Missense_Mutation	SNP	112121289	112121289	8325	1	G	A	A	37	37	KCND3	A	1	1
KCND3	3752	broad.mit.edu	36	1	112124852	112124852	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:112124852C>T	uc001ebu.1	-	c.1354G>A	c.(1354-1356)GAG>AAG	p.E452K	KCND3_uc001ebv.1_Missense_Mutation_p.E452K	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	452	Cytoplasmic (Potential).			E -> G (in Ref. 2; AAF01044/AAF01045).		sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)												0.269231	33.73407	36.228906	14	38	CC		KEEP	---	---	---	---	capture		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Missense_Mutation	SNP	112124852	112124852	8325	1	C	T	T	31	31	KCND3	T	1	1
UBIAD1	29914	broad.mit.edu	36	1	11256656	11256656	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11256656G>A	uc001asf.1	+	c.481G>A	c.(481-483)GCT>ACT	p.A161T		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	161	Helical; (Potential).				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)												0.228571	87.1552	98.951674	40	135	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	Missense_Mutation	SNP	11256656	11256656	17443	1	G	A	A	42	42	UBIAD1	A	2	2
TNFRSF18	8784	broad.mit.edu	36	1	1128844	1128844	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1128844A>G	uc001add.1	-	c.758T>C	c.(757-759)GTG>GCG	p.V253A	TNFRSF18_uc001ada.1_3'UTR|TNFRSF18_uc001adb.1_3'UTR|TNFRSF18_uc001adc.1_3'UTR	NM_148901	NP_683699	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily,	Error:Variant_position_missing_in_Q9Y5U5_after_alignment					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)				GBM(157;472 1934 13810 14591 35952)				148				0.142857	7.261892	11.556182	5	30	AA		KEEP	---	---	---	---	capture		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Missense_Mutation	SNP	1128844	1128844	16832	1	A	G	G	6	6	TNFRSF18	G	4	4
CAPZA1	829	broad.mit.edu	36	1	113003896	113003896	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:113003896C>T	uc001ecj.1	+	c.557C>T	c.(556-558)GCC>GTC	p.A186V		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit	186					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)												0.431579	118.157333	118.545457	41	54	CC		KEEP	---	---	---	---	capture		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	113003896	113003896	2759	1	C	T	T	26	26	CAPZA1	T	2	2
MOV10	4343	broad.mit.edu	36	1	113044064	113044064	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:113044064C>T	uc001eck.1	+	c.2735C>T	c.(2734-2736)GCC>GTC	p.A912V	MOV10_uc001ecl.1_Intron|MOV10_uc001ecm.1_Missense_Mutation_p.A852V|MOV10_uc001ecn.1_Missense_Mutation_p.A912V|MOV10_uc001eco.1_Missense_Mutation_p.A912V	NM_020963	NP_066014	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	912					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)	4	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)												0.126386	59.746053	121.239078	57	394	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	113044064	113044064	10110	1	C	T	T	26	26	MOV10	T	2	2
LRIG2	9860	broad.mit.edu	36	1	113463542	113463542	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:113463542C>A	uc001edf.1	+	c.2845C>A	c.(2845-2847)CAT>AAT	p.H949N	LRIG2_uc009wgn.1_Missense_Mutation_p.H846N	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	949	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)												0.258065	135.379773	146.905768	56	161	CC		KEEP	---	---	---	---	capture		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	Missense_Mutation	SNP	113463542	113463542	9318	1	C	A	A	17	17	LRIG2	A	3	3
MAGI3	260425	broad.mit.edu	36	1	113998122	113998122	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:113998122G>A	uc001edh.2	+	c.2663G>A	c.(2662-2664)GGC>GAC	p.G888D	MAGI3_uc001edi.2_Missense_Mutation_p.G863D|MAGI3_uc001edj.1_Missense_Mutation_p.G584D	NM_152900	NP_690864	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	888	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)												0.187602	201.946841	258.01647	115	498	GG		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	113998122	113998122	9575	1	G	A	A	42	42	MAGI3	A	2	2
PHTF1	10745	broad.mit.edu	36	1	114048294	114048294	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114048294A>C	uc009wgp.1	-	c.1822T>G	c.(1822-1824)TCA>GCA	p.S608A	PHTF1_uc001edm.2_Missense_Mutation_p.S365A|PHTF1_uc001edn.2_Missense_Mutation_p.S608A	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	608					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)												0.485714	117.958846	117.970702	34	36	AA		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114048294	114048294	12286	1	A	C	C	9	9	PHTF1	C	4	4
PHTF1	10745	broad.mit.edu	36	1	114102830	114102830	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114102830C>T	uc009wgp.1	-	c.19G>A	c.(19-21)GAT>AAT	p.D7N	PHTF1_uc001edn.2_Missense_Mutation_p.D7N|PHTF1_uc001edp.1_Missense_Mutation_p.D7N	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	7					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)												0.370787	95.447725	96.755013	33	56	CC		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114102830	114102830	12286	1	C	T	T	32	32	PHTF1	T	2	2
RSBN1	54665	broad.mit.edu	36	1	114110543	114110543	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114110543C>T	uc001edq.1	-	c.1991G>A	c.(1990-1992)CGT>CAT	p.R664H	RSBN1_uc001edr.1_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	664						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)												0.185185	69.433462	89.594838	40	176	CC		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114110543	114110543	14176	1	C	T	T	19	19	RSBN1	T	1	1
RSBN1	54665	broad.mit.edu	36	1	114141991	114141991	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114141991T>C	uc001edq.1	-	c.894A>G	c.(892-894)ATA>ATG	p.I298M	RSBN1_uc001edr.1_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	298						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)												0.458015	622.698257	623.296366	180	213	TT		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114141991	114141991	14176	1	T	C	C	61	61	RSBN1	C	4	4
DCLRE1B	64858	broad.mit.edu	36	1	114256197	114256197	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114256197G>A	uc001eeg.1	+	c.1460G>A	c.(1459-1461)AGC>AAC	p.S487N	DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.1_Missense_Mutation_p.S361N	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	487					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)												0.504762	468.39172	468.397575	159	156	GG		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114256197	114256197	4466	1	G	A	A	34	34	DCLRE1B	A	2	2
HIPK1	204851	broad.mit.edu	36	1	114296927	114296927	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114296927C>A	uc001eem.1	+	c.1093C>A	c.(1093-1095)CTT>ATT	p.L365I	HIPK1_uc001eel.1_Missense_Mutation_p.L365I|HIPK1_uc001een.1_Missense_Mutation_p.L365I|HIPK1_uc001eeo.1_5'UTR|HIPK1_uc001eep.1_5'Flank	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	365	Protein kinase.				protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)								365				0.421053	183.833801	184.770976	72	99	CC		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114296927	114296927	7401	1	C	A	A	32	32	HIPK1	A	3	3
TRIM33	51592	broad.mit.edu	36	1	114746933	114746933	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114746933G>A	uc001eew.1	-	c.2864C>T	c.(2863-2865)GCG>GTG	p.A955V	TRIM33_uc001eex.1_Missense_Mutation_p.A955V|TRIM33_uc009wgt.1_Missense_Mutation_p.A587V	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	955					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			central_nervous_system(3)|lung(2)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	9	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)								377				0.458484	355.178406	355.595423	127	150	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	114746933	114746933	17051	1	G	A	A	38	38	TRIM33	A	1	1
PTCHD2	57540	broad.mit.edu	36	1	11483994	11483994	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11483994G>A	uc001ash.2	+	c.358G>A	c.(358-360)GAC>AAC	p.D120N	PTCHD2_uc001asi.1_Missense_Mutation_p.D120N	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	120	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)												0.267123	91.764103	98.913082	39	107	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	Missense_Mutation	SNP	11483994	11483994	13187	1	G	A	A	37	37	PTCHD2	A	1	1
PTCHD2	57540	broad.mit.edu	36	1	11484609	11484609	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11484609C>A	uc001ash.2	+	c.973C>A	c.(973-975)CTG>ATG	p.L325M	PTCHD2_uc001asi.1_Missense_Mutation_p.L325M	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	325	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)												0.41	107.845289	108.5554	41	59	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	Missense_Mutation	SNP	11484609	11484609	13187	1	C	A	A	32	32	PTCHD2	A	3	3
DENND2C	163259	broad.mit.edu	36	1	114944373	114944373	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114944373C>T	uc001efd.1	-	c.2080G>A	c.(2080-2082)GTA>ATA	p.V694I	DENND2C_uc001eez.2_Intron|DENND2C_uc001efc.1_Missense_Mutation_p.V637I	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	694	DENN.										0	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)												0.232759	59.38097	66.956845	27	89	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	114944373	114944373	4609	1	C	T	T	18	18	DENND2C	T	2	2
DENND2C	163259	broad.mit.edu	36	1	114946272	114946272	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114946272G>A	uc001efd.1	-	c.1734C>T	c.(1732-1734)CTC>CTT	p.L578L	DENND2C_uc001eez.2_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.L521L	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	578	UDENN.										0	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)												0.160305	37.989488	52.387655	21	110	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	114946272	114946272	4609	1	G	A	A	33	33	DENND2C	A	2	2
DENND2C	163259	broad.mit.edu	36	1	114967723	114967723	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114967723C>T	uc001efd.1	-	c.871G>A	c.(871-873)GAA>AAA	p.E291K	DENND2C_uc001eez.2_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.E291K	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	291											0	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)												0.14966	36.943326	54.255951	22	125	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	114967723	114967723	4609	1	C	T	T	32	32	DENND2C	T	2	2
PTCHD2	57540	broad.mit.edu	36	1	11498137	11498137	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11498137C>T	uc001ash.2	+	c.1578C>T	c.(1576-1578)ATC>ATT	p.I526I	PTCHD2_uc001asi.1_Silent_p.I526I	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	526	Helical; (Potential).|SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)												0.443609	166.166222	166.522985	59	74	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	Silent	SNP	11498137	11498137	13187	1	C	T	T	31	31	PTCHD2	T	1	1
AMPD1	270	broad.mit.edu	36	1	115021554	115021554	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115021554G>A	uc001efe.1	-	c.1329C>T	c.(1327-1329)TTC>TTT	p.F443F	AMPD1_uc001eff.1_Silent_p.F439F	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	443					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			Adenosine monophosphate(DB00131)									0.382883	224.657605	227.313558	85	137	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	115021554	115021554	588	1	G	A	A	37	37	AMPD1	A	1	1
AMPD1	270	broad.mit.edu	36	1	115022493	115022493	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115022493G>A	uc001efe.1	-	c.1076C>T	c.(1075-1077)TCT>TTT	p.S359F	AMPD1_uc001eff.1_Missense_Mutation_p.S355F	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	359					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			Adenosine monophosphate(DB00131)									0.177215	118.094781	149.118768	56	260	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	115022493	115022493	588	1	G	A	A	33	33	AMPD1	A	2	2
AMPD1	270	broad.mit.edu	36	1	115028348	115028348	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115028348T>C	uc001efe.1	-	c.542A>G	c.(541-543)TAT>TGT	p.Y181C	AMPD1_uc001eff.1_Missense_Mutation_p.Y177C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	181					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			Adenosine monophosphate(DB00131)									0.171233	51.793217	66.708301	25	121	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	115028348	115028348	588	1	T	C	C	49	49	AMPD1	C	4	4
AMPD1	270	broad.mit.edu	36	1	115028466	115028466	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115028466G>A	uc001efe.1	-	c.424C>T	c.(424-426)CGG>TGG	p.R142W	AMPD1_uc001eff.1_Missense_Mutation_p.R138W	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	142					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			Adenosine monophosphate(DB00131)									0.173554	35.997352	48.178009	21	100	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	115028466	115028466	588	1	G	A	A	37	37	AMPD1	A	1	1
CSDE1	7812	broad.mit.edu	36	1	115074688	115074688	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115074688G>A	uc001efi.1	-	c.1293C>T	c.(1291-1293)CTC>CTT	p.L431L	CSDE1_uc001efj.1_Non-coding_Transcript|CSDE1_uc001efl.1_Silent_p.L354L|CSDE1_uc001efm.1_Silent_p.L400L|CSDE1_uc009wgv.1_Silent_p.L385L|CSDE1_uc001efn.1_Silent_p.L354L|CSDE1_uc001efk.1_Silent_p.L385L	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	385	CSD 5.			IKCVDRDVRMFFHFSEILDGNQL -> HPSVWIRECSVCSF PLPVKFWMGTSS (in Ref. 2; AAD27787).	male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)												0.282759	102.509319	108.659614	41	104	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	115074688	115074688	4070	1	G	A	A	41	41	CSDE1	A	2	2
PTCHD2	57540	broad.mit.edu	36	1	11509327	11509327	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11509327G>T	uc001ash.2	+	c.2646G>T	c.(2644-2646)AAG>AAT	p.K882N	PTCHD2_uc001asi.1_Missense_Mutation_p.K882N	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	882	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)												0.190476	152.910097	194.326998	88	374	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	Missense_Mutation	SNP	11509327	11509327	13187	1	G	T	T	33	33	PTCHD2	T	3	3
SIKE1	80143	broad.mit.edu	36	1	115123335	115123335	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115123335T>G	uc001efp.2	-	c.371A>C	c.(370-372)AAA>ACA	p.K124T	SIKE1_uc001efo.2_Missense_Mutation_p.K120T	NM_001102396	NP_001095866	Q9BRV8	SIKE1_HUMAN	suppressor of IKK epsilon isoform 1	120						cytosol	protein binding				0														0.224138	201.794075	226.114341	78	270	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115123335	115123335	14815	1	T	G	G	64	64	SIKE1	G	4	4
TSHB	7252	broad.mit.edu	36	1	115378244	115378244	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115378244A>G	uc001efs.1	+	c.290A>G	c.(289-291)TAT>TGT	p.Y97C		NM_000549	NP_000540	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta precursor	97					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity				0	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)												0.409766	637.773161	641.098576	193	278	AA		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Missense_Mutation	SNP	115378244	115378244	17172	1	A	G	G	16	16	TSHB	G	4	4
VANGL1	81839	broad.mit.edu	36	1	116008314	116008314	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116008314C>T	uc001efv.1	+	c.714C>T	c.(712-714)ATC>ATT	p.I238I	VANGL1_uc009wgy.1_Silent_p.I236I|VANGL1_uc001efw.1_Silent_p.I238I	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	238	Helical; Name=4; (Potential).				multicellular organismal development	integral to membrane	protein binding			central_nervous_system(1)	1	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)												0.224044	86.885774	99.693146	41	142	CC		KEEP	---	---	---	---	capture		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	Silent	SNP	116008314	116008314	17684	1	C	T	T	31	31	VANGL1	T	1	1
VANGL1	81839	broad.mit.edu	36	1	116026596	116026596	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116026596C>T	uc001efv.1	+	c.901C>T	c.(901-903)CGA>TGA	p.R301*	VANGL1_uc009wgy.1_Nonsense_Mutation_p.R299*	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	301	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane	protein binding			central_nervous_system(1)	1	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)												0.506757	229.921543	229.927406	75	73	CC		KEEP	---	---	---	---	capture		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	Nonsense_Mutation	SNP	116026596	116026596	17684	1	C	T	T	23	23	VANGL1	T	5	1
CASQ2	845	broad.mit.edu	36	1	116082425	116082425	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116082425C>T	uc001efx.2	-	c.475G>A	c.(475-477)GAA>AAA	p.E159K		NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	159					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding				0	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)												0.391198	442.715229	446.951723	160	249	CC		KEEP	---	---	---	---	capture		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	Missense_Mutation	SNP	116082425	116082425	2800	1	C	T	T	31	31	CASQ2	T	1	1
C1orf161	126868	broad.mit.edu	36	1	116477296	116477296	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116477296C>T	uc001egc.1	+	c.876C>T	c.(874-876)TGC>TGT	p.C292C		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	292											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)												0.361446	76.936185	78.334481	30	53	CC		KEEP	---	---	---	---	capture		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	Silent	SNP	116477296	116477296	2076	1	C	T	T	27	27	C1orf161	T	1	1
ATP1A1	476	broad.mit.edu	36	1	116748119	116748119	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116748119C>T	uc001ege.1	+	c.3042C>T	c.(3040-3042)GGC>GGT	p.G1014G	ATP1A1_uc001egf.1_3'UTR|ATP1A1OS_uc009whb.1_Intron|ATP1A1OS_uc001egg.2_Intron|ATP1A1OS_uc009whc.1_Intron|ATP1A1_uc001egh.1_Silent_p.G156G	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	1014	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)			Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)									0.253112	140.474958	153.804505	61	180	CC		KEEP	---	---	---	---	capture		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Silent	SNP	116748119	116748119	1147	1	C	T	T	27	27	ATP1A1	T	1	1
IGSF3	3321	broad.mit.edu	36	1	116928875	116928875	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116928875C>A	uc001egq.1	-	c.2823G>T	c.(2821-2823)GAG>GAT	p.E941D	IGSF3_uc001egr.1_Missense_Mutation_p.E921D|IGSF3_uc001egs.1_Missense_Mutation_p.E594D	NM_001542	NP_001533	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 1	921	Ig-like C2-type 7.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)												0.442478	136.124517	136.451699	50	63	CC		KEEP	---	---	---	---	capture		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	Missense_Mutation	SNP	116928875	116928875	7902	1	C	A	A	24	24	IGSF3	A	3	3
IGSF3	3321	broad.mit.edu	36	1	116933099	116933099	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116933099C>T	uc001egq.1	-	c.2240G>A	c.(2239-2241)GGC>GAC	p.G747D	IGSF3_uc001egr.1_Missense_Mutation_p.G727D|IGSF3_uc001egs.1_Missense_Mutation_p.G400D	NM_001542	NP_001533	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 1	727	Ig-like C2-type 6.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)												0.213675	99.05882	116.762639	50	184	CC		KEEP	---	---	---	---	capture		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	Missense_Mutation	SNP	116933099	116933099	7902	1	C	T	T	26	26	IGSF3	T	2	2
IGSF3	3321	broad.mit.edu	36	1	116952191	116952191	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116952191T>G	uc001egq.1	-	c.1118A>C	c.(1117-1119)AAA>ACA	p.K373T	IGSF3_uc001egr.1_Missense_Mutation_p.K373T|IGSF3_uc001egs.1_Missense_Mutation_p.K46T	NM_001542	NP_001533	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 1	373	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)												0.213873	193.873214	220.023249	74	272	TT		KEEP	---	---	---	---	capture		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	Missense_Mutation	SNP	116952191	116952191	7902	1	T	G	G	64	64	IGSF3	G	4	4
FAM132A	388581	broad.mit.edu	36	1	1169630	1169630	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1169630C>A	uc001adl.1	-	c.288G>T	c.(286-288)AAG>AAT	p.K96N		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	96						extracellular region					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)								448				0.271186	32.085466	34.866585	16	43	CC		KEEP	---	---	---	---	capture		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Missense_Mutation	SNP	1169630	1169630	5639	1	C	A	A	32	32	FAM132A	A	3	3
PTGFRN	5738	broad.mit.edu	36	1	117305507	117305507	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117305507G>A	uc001egv.1	+	c.1333G>A	c.(1333-1335)GTT>ATT	p.V445I		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	445	Extracellular (Potential).|Ig-like C2-type 4.					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)												0.172043	54.680519	73.596941	32	154	GG		KEEP	---	---	---	---	capture		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	Missense_Mutation	SNP	117305507	117305507	13205	1	G	A	A	44	44	PTGFRN	A	2	2
CD101	9398	broad.mit.edu	36	1	117365721	117365721	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117365721G>A	uc009whd.1	+	c.2021G>A	c.(2020-2022)AGC>AAC	p.S674N		NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2	674	Ig-like C2-type 6.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(1)	1														0.131148	12.555423	20.625293	8	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117365721	117365721	3089	1	G	A	A	34	34	CD101	A	2	2
CD101	9398	broad.mit.edu	36	1	117366107	117366107	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117366107G>A	uc009whd.1	+	c.2407G>A	c.(2407-2409)GAA>AAA	p.E803K		NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2	803	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(1)	1														0.181102	45.84228	57.986518	23	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117366107	117366107	3089	1	G	A	A	33	33	CD101	A	2	2
TTF2	8458	broad.mit.edu	36	1	117419683	117419683	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117419683G>T	uc001egy.1	+	c.954G>T	c.(952-954)GAG>GAT	p.E318D	TTF2_uc001egx.1_Missense_Mutation_p.E318D	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	318					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|RNA polymerase II transcription termination factor activity|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)												0.216981	44.358787	52.200761	23	83	GG		KEEP	---	---	---	---	capture		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	Missense_Mutation	SNP	117419683	117419683	17274	1	G	T	T	33	33	TTF2	T	3	3
TRIM45	80263	broad.mit.edu	36	1	117462776	117462776	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117462776G>A	uc001egz.1	-	c.625C>T	c.(625-627)CCC>TCC	p.P209S	TRIM45_uc009whe.1_Missense_Mutation_p.P209S|TRIM45_uc001eha.1_Missense_Mutation_p.P105S	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45	209	B box-type 2.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)												0.424658	349.893132	351.327556	124	168	GG		KEEP	---	---	---	---	capture		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	Missense_Mutation	SNP	117462776	117462776	17065	1	G	A	A	42	42	TRIM45	A	2	2
VTCN1	79679	broad.mit.edu	36	1	117500871	117500871	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117500871C>A	uc001ehb.1	-	c.293G>T	c.(292-294)AGA>ATA	p.R98I	VTCN1_uc001ehc.1_Missense_Mutation_p.R3I|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation	98	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)												0.181347	59.393891	77.829185	35	158	CC		KEEP	---	---	---	---	capture		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	Missense_Mutation	SNP	117500871	117500871	17803	1	C	A	A	32	32	VTCN1	A	3	3
MAN1A2	10905	broad.mit.edu	36	1	117712391	117712391	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117712391G>A	uc001ehd.1	+	c.63G>A	c.(61-63)CCG>CCA	p.P21P	MAN1A2_uc009whg.1_5'UTR	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	21	Cytoplasmic (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)				Ovarian(33;199 881 8228 13687 31538)								0.486928	407.570534	407.614621	149	157	GG		KEEP	---	---	---	---	capture		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	Silent	SNP	117712391	117712391	9594	1	G	A	A	38	38	MAN1A2	A	1	1
MAN1A2	10905	broad.mit.edu	36	1	117749722	117749722	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117749722G>T	uc001ehd.1	+	c.587G>T	c.(586-588)AGG>ATG	p.R196M	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	196	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)				Ovarian(33;199 881 8228 13687 31538)								0.206422	90.838503	108.27075	45	173	GG		KEEP	---	---	---	---	capture		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	Missense_Mutation	SNP	117749722	117749722	9594	1	G	T	T	35	35	MAN1A2	T	3	3
MTHFR	4524	broad.mit.edu	36	1	11777047	11777047	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11777047G>T	uc001atb.1	-	c.1371C>A	c.(1369-1371)GTC>GTA	p.V457V	MTHFR_uc001atc.1_Silent_p.V434V	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	434					blood circulation|folic acid metabolic process|oxidation-reduction process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)									0.157658	52.774579	77.602552	35	187	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	11777047	11777047	10324	1	G	T	T	33	33	MTHFR	T	3	3
MTHFR	4524	broad.mit.edu	36	1	11782894	11782894	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11782894C>T	uc001atb.1	-	c.617G>A	c.(616-618)CGA>CAA	p.R206Q	MTHFR_uc001atc.1_Missense_Mutation_p.R183Q	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	183					blood circulation|folic acid metabolic process|oxidation-reduction process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)									0.412869	424.277176	426.747507	154	219	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	11782894	11782894	10324	1	C	T	T	31	31	MTHFR	T	1	1
FAM46C	54855	broad.mit.edu	36	1	117967350	117967350	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117967350C>A	uc001ehe.1	+	c.337C>A	c.(337-339)CTG>ATG	p.L113M	FAM46C_uc009whh.1_Missense_Mutation_p.L113M	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	113											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)									Multiple Myeloma(3;1.13e-06)			0.220974	117.069426	136.221137	59	208	CC		KEEP	---	---	---	---	capture		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	Missense_Mutation	SNP	117967350	117967350	5788	1	C	A	A	32	32	FAM46C	A	3	3
CLCN6	1185	broad.mit.edu	36	1	11811104	11811104	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11811104C>A	uc001ate.2	+	c.957C>A	c.(955-957)TGC>TGA	p.C319*	CLCN6_uc009vnh.1_Intron	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	319					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)												0.398964	430.675934	434.118984	154	232	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Nonsense_Mutation	SNP	11811104	11811104	3603	1	C	A	A	28	28	CLCN6	A	5	3
CLCN6	1185	broad.mit.edu	36	1	11817188	11817188	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11817188C>T	uc001ate.2	+	c.1747C>T	c.(1747-1749)CGA>TGA	p.R583*		NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	583	Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)												0.391941	287.957414	290.750202	107	166	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Nonsense_Mutation	SNP	11817188	11817188	3603	1	C	T	T	27	27	CLCN6	T	5	1
CLCN6	1185	broad.mit.edu	36	1	11820092	11820092	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11820092G>A	uc001ate.2	+	c.2244G>A	c.(2242-2244)TCG>TCA	p.S748S		NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	748	Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)												0.464646	251.37171	251.587327	92	106	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	11820092	11820092	3603	1	G	A	A	38	38	CLCN6	A	1	1
GDAP2	54834	broad.mit.edu	36	1	118222243	118222243	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:118222243G>T	uc001ehf.1	-	c.1357C>A	c.(1357-1359)CAC>AAC	p.H453N	GDAP2_uc001ehg.1_Missense_Mutation_p.H453N	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated	453	CRAL-TRIO.									ovary(2)	2		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)												0.192593	49.762971	61.685089	26	109	GG		KEEP	---	---	---	---	capture		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	Missense_Mutation	SNP	118222243	118222243	6576	1	G	T	T	47	47	GDAP2	T	3	3
GDAP2	54834	broad.mit.edu	36	1	118256139	118256139	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:118256139G>A	uc001ehf.1	-	c.559C>T	c.(559-561)CGC>TGC	p.R187C	GDAP2_uc001ehg.1_Missense_Mutation_p.R187C	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated	187	Macro.									ovary(2)	2		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)												0.412214	151.62527	152.506813	54	77	GG		KEEP	---	---	---	---	capture		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	Missense_Mutation	SNP	118256139	118256139	6576	1	G	A	A	37	37	GDAP2	A	1	1
WDR3	10885	broad.mit.edu	36	1	118284988	118284988	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:118284988G>T	uc001ehj.1	+	c.691G>T	c.(691-693)GAA>TAA	p.E231*	WDR3_uc001ehh.1_Nonsense_Mutation_p.E60*|WDR3_uc001ehi.1_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	231						nuclear membrane|nucleolus					0	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)												0.181818	112.600365	147.167713	66	297	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	Nonsense_Mutation	SNP	118284988	118284988	17858	1	G	T	T	33	33	WDR3	T	5	3
SPAG17	200162	broad.mit.edu	36	1	118325489	118325489	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:118325489T>C	uc001ehk.1	-	c.5931A>G	c.(5929-5931)AAA>AAG	p.K1977K	SPAG17_uc009whi.1_Silent_p.K487K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1977						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)												0.434783	375.728638	376.663727	110	143	TT		KEEP	---	---	---	---	capture		Lung(183;0.0858)	Silent	SNP	118325489	118325489	15482	1	T	C	C	60	60	SPAG17	C	4	4
SPAG17	200162	broad.mit.edu	36	1	118411031	118411031	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:118411031G>T	uc001ehk.1	-	c.2400C>A	c.(2398-2400)GCC>GCA	p.A800A		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	800						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)												0.211429	76.467074	89.95433	37	138	GG		KEEP	---	---	---	---	capture		Lung(183;0.0858)	Silent	SNP	118411031	118411031	15482	1	G	T	T	43	43	SPAG17	T	3	3
SPAG17	200162	broad.mit.edu	36	1	118425302	118425302	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:118425302T>C	uc001ehk.1	-	c.2154A>G	c.(2152-2154)AGA>AGG	p.R718R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	718						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)												0.455764	583.537883	584.169739	170	203	TT		KEEP	---	---	---	---	capture		Lung(183;0.0858)	Silent	SNP	118425302	118425302	15482	1	T	C	C	58	58	SPAG17	C	4	4
SPAG17	200162	broad.mit.edu	36	1	118459476	118459476	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:118459476G>A	uc001ehk.1	-	c.427C>T	c.(427-429)CGA>TGA	p.R143*		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	143	Lys-rich.					cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)												0.413194	314.130716	316.033876	119	169	GG		KEEP	---	---	---	---	capture		Lung(183;0.0858)	Nonsense_Mutation	SNP	118459476	118459476	15482	1	G	A	A	38	38	SPAG17	A	5	1
KIAA2013	90231	broad.mit.edu	36	1	11905346	11905346	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11905346G>T	uc001atl.1	-	c.1821C>A	c.(1819-1821)CTC>CTA	p.L607L	KIAA2013_uc001atk.1_Silent_p.L607L	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	hypothetical protein LOC90231	607	Helical; (Potential).					integral to membrane				ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)												0.183673	14.33999	18.951589	9	40	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	11905346	11905346	8578	1	G	T	T	33	33	KIAA2013	T	3	3
PLOD1	5351	broad.mit.edu	36	1	11946243	11946243	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11946243G>A	uc001atm.1	+	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K		NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase precursor	389					epidermis development|hydroxylysine biosynthetic process|oxidation-reduction process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.444444	19.083924	19.134038	8	10	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	11946243	11946243	12527	1	G	A	A	37	37	PLOD1	A	1	1
PLOD1	5351	broad.mit.edu	36	1	11955563	11955563	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11955563G>T	uc001atm.1	+	c.1950G>T	c.(1948-1950)CAG>CAT	p.Q650H		NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase precursor	650	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|oxidation-reduction process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.421488	278.966217	280.276289	102	140	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	11955563	11955563	12527	1	G	T	T	34	34	PLOD1	T	3	3
HSD3B2	3284	broad.mit.edu	36	1	119766316	119766316	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:119766316C>A	uc001ehs.1	+	c.669C>A	c.(667-669)GTC>GTA	p.V223V	HSD3B2_uc001eht.1_Silent_p.V223V|HSD3B2_uc001ehu.2_Intron	NM_000198	NP_000189	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	223					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|oxidation-reduction process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)			NADH(DB00157)|Trilostane(DB01108)									0.425	222.616258	223.602585	85	115	CC		KEEP	---	---	---	---	capture		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Silent	SNP	119766316	119766316	7686	1	C	A	A	32	32	HSD3B2	A	3	3
HSD3B2	3284	broad.mit.edu	36	1	119766656	119766656	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:119766656C>A	uc001ehs.1	+	c.1009C>A	c.(1009-1011)CTG>ATG	p.L337M	HSD3B2_uc001eht.1_Missense_Mutation_p.L337M|HSD3B2_uc001ehu.2_Intron	NM_000198	NP_000189	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	337					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|oxidation-reduction process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)			NADH(DB00157)|Trilostane(DB01108)									0.489933	192.945498	192.959078	73	76	CC		KEEP	---	---	---	---	capture		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Missense_Mutation	SNP	119766656	119766656	7686	1	C	A	A	32	32	HSD3B2	A	3	3
MFN2	9927	broad.mit.edu	36	1	11984109	11984109	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11984109G>A	uc001atn.2	+	c.881G>A	c.(880-882)CGA>CAA	p.R294Q	MFN2_uc009vni.1_Missense_Mutation_p.R294Q	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	294	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)												0.577778	73.848225	74.084783	26	19	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	Missense_Mutation	SNP	11984109	11984109	9914	1	G	A	A	37	37	MFN2	A	1	1
HSD3B1	3283	broad.mit.edu	36	1	119858437	119858437	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:119858437C>A	uc001ehv.1	+	c.768C>A	c.(766-768)ATC>ATA	p.I256I	HSD3B1_uc001ehw.2_Silent_p.I256I	NM_000862	NP_000853	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	256					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|oxidation-reduction process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)			NADH(DB00157)|Trilostane(DB01108)									0.305785	176.834157	184.990711	74	168	CC		KEEP	---	---	---	---	capture		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Silent	SNP	119858437	119858437	7685	1	C	A	A	32	32	HSD3B1	A	3	3
ZNF697	90874	broad.mit.edu	36	1	119967063	119967063	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:119967063C>T	uc001ehy.1	-	c.1426G>A	c.(1426-1428)GAC>AAC	p.D476N		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	476	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)												0.571429	33.799385	33.892418	12	9	CC		KEEP	---	---	---	---	capture		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	Missense_Mutation	SNP	119967063	119967063	18695	1	C	T	T	31	31	ZNF697	T	1	1
HMGCS2	3158	broad.mit.edu	36	1	120112962	120112962	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:120112962C>T	uc001eid.1	-	c.29G>A	c.(28-30)CGC>CAC	p.R10H		NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2	10					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)												0.436508	151.905934	152.348197	55	71	CC		KEEP	---	---	---	---	capture		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	Missense_Mutation	SNP	120112962	120112962	7524	1	C	T	T	27	27	HMGCS2	T	1	1
NBPF7	343505	broad.mit.edu	36	1	120179048	120179048	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:120179048T>C	uc001eii.1	-	c.1129A>G	c.(1129-1131)ACC>GCC	p.T377A		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	377	NBPF 2.					cytoplasm				ovary(1)	1	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)												0.186508	117.099483	140.283169	47	205	TT		KEEP	---	---	---	---	capture		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	Missense_Mutation	SNP	120179048	120179048	10597	1	T	C	C	57	57	NBPF7	C	4	4
NOTCH2	4853	broad.mit.edu	36	1	120259670	120259670	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:120259670G>A	uc001eik.1	-	c.7198C>T	c.(7198-7200)CGA>TGA	p.R2400*		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2400	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	p.R2400*(4)		haematopoietic_and_lymphoid_tissue(7)|ovary(4)|lung(3)|central_nervous_system(2)|kidney(2)|breast(1)	19	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)							p.R2400*(RI1-Tumor)	581				0.186667	73.053436	93.733336	42	183	GG		KEEP	---	---	---	---	capture		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	Nonsense_Mutation	SNP	120259670	120259670	10951	1	G	A	A	38	38	NOTCH2	A	5	1
NOTCH2	4853	broad.mit.edu	36	1	120269756	120269756	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:120269756A>G	uc001eik.1	-	c.4206T>C	c.(4204-4206)TGT>TGC	p.C1402C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1402	Extracellular (Potential).|EGF-like 35.				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			haematopoietic_and_lymphoid_tissue(7)|ovary(4)|lung(3)|central_nervous_system(2)|kidney(2)|breast(1)	19	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)								581				0.263566	87.706211	94.217946	34	95	AA		KEEP	---	---	---	---	capture		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	Silent	SNP	120269756	120269756	10951	1	A	G	G	6	6	NOTCH2	G	4	4
TNFRSF8	943	broad.mit.edu	36	1	12092749	12092749	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12092749C>T	uc001atq.1	+	c.577C>T	c.(577-579)CCT>TCT	p.P193S		NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	193	Extracellular (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)								756				0.210843	69.115022	81.981813	35	131	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	12092749	12092749	16840	1	C	T	T	26	26	TNFRSF8	T	2	2
SCNN1D	6339	broad.mit.edu	36	1	1215754	1215754	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1215754G>T	uc001adu.1	+	c.1323G>T	c.(1321-1323)GAG>GAT	p.E441D	SCNN1D_uc001adt.1_Missense_Mutation_p.E605D|SCNN1D_uc001adx.2_Missense_Mutation_p.E230D|SCNN1D_uc001adv.1_Missense_Mutation_p.E441D|SCNN1D_uc001adw.1_Missense_Mutation_p.E507D	NM_002978	NP_002969	P51172	SCNND_HUMAN	sodium channel, nonvoltage-gated 1, delta	441	Extracellular (By similarity).				response to stimulus|sensory perception of taste	integral to membrane	ligand-gated sodium channel activity|protein binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;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)			Amiloride(DB00594)|Triamterene(DB00384)									0.24	104.986011	118.928538	54	171	GG		KEEP	---	---	---	---	capture		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Missense_Mutation	SNP	1215754	1215754	14411	1	G	T	T	33	33	SCNN1D	T	3	3
VPS13D	55187	broad.mit.edu	36	1	12239698	12239698	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12239698G>A	uc001atv.1	+	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	VPS13D_uc001atw.1_Missense_Mutation_p.R303Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	303					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)												0.149425	39.625686	60.1478	26	148	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	12239698	12239698	17759	1	G	A	A	37	37	VPS13D	A	1	1
VPS13D	55187	broad.mit.edu	36	1	12253686	12253686	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12253686G>A	uc001atv.1	+	c.2021G>A	c.(2020-2022)CGA>CAA	p.R674Q	VPS13D_uc001atw.1_Missense_Mutation_p.R674Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	674					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)												0.22973	73.120849	83.002275	34	114	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	12253686	12253686	17759	1	G	A	A	37	37	VPS13D	A	1	1
VPS13D	55187	broad.mit.edu	36	1	12259737	12259737	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12259737G>A	uc001atv.1	+	c.3505G>A	c.(3505-3507)GAA>AAA	p.E1169K	VPS13D_uc001atw.1_Missense_Mutation_p.E1169K|VPS13D_uc001atx.1_Missense_Mutation_p.E357K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1169					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)												0.455	264.274688	264.628851	91	109	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	12259737	12259737	17759	1	G	A	A	41	41	VPS13D	A	2	2
VPS13D	55187	broad.mit.edu	36	1	12266138	12266138	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12266138G>T	uc001atv.1	+	c.5392G>T	c.(5392-5394)GAA>TAA	p.E1798*	VPS13D_uc001atw.1_Nonsense_Mutation_p.E1798*|VPS13D_uc001atx.1_Nonsense_Mutation_p.E986*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1798					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)												0.187739	86.094345	109.956073	49	212	GG		KEEP	---	---	---	---	capture		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)	Nonsense_Mutation	SNP	12266138	12266138	17759	1	G	T	T	33	33	VPS13D	T	5	3
VPS13D	55187	broad.mit.edu	36	1	12276268	12276268	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12276268G>A	uc001atv.1	+	c.5953G>A	c.(5953-5955)GAG>AAG	p.E1985K	VPS13D_uc001atw.1_Missense_Mutation_p.E1985K|VPS13D_uc001atx.1_Missense_Mutation_p.E1173K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1985					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)												0.268041	65.803767	70.517722	26	71	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	12276268	12276268	17759	1	G	A	A	33	33	VPS13D	A	2	2
VPS13D	55187	broad.mit.edu	36	1	12329268	12329268	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12329268G>A	uc001atv.1	+	c.9041G>A	c.(9040-9042)AGA>AAA	p.R3014K	VPS13D_uc001atw.1_Missense_Mutation_p.R2989K|VPS13D_uc001atx.1_Missense_Mutation_p.R2201K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3013					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)												0.268908	159.588171	171.067336	64	174	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	12329268	12329268	17759	1	G	A	A	33	33	VPS13D	A	2	2
PUSL1	126789	broad.mit.edu	36	1	1234758	1234758	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1234758A>G	uc001aed.1	+	c.385A>G	c.(385-387)ACC>GCC	p.T129A	ACAP3_uc001aeb.1_5'Flank|ACAP3_uc001aec.1_5'UTR|PUSL1_uc009vjx.1_5'UTR	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	129					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)												0.515152	47.282116	47.286071	17	16	AA		KEEP	---	---	---	---	capture		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Missense_Mutation	SNP	1234758	1234758	13293	1	A	G	G	10	10	PUSL1	G	4	4
CPSF3L	54973	broad.mit.edu	36	1	1239003	1239003	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1239003C>T	uc001aee.1	-	c.929G>A	c.(928-930)CGG>CAG	p.R310Q	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aef.1_Missense_Mutation_p.R316Q|CPSF3L_uc009vjz.1_Missense_Mutation_p.R288Q|CPSF3L_uc001aeg.1_Missense_Mutation_p.R186Q|CPSF3L_uc001aeh.1_Missense_Mutation_p.R209Q|CPSF3L_uc001aei.1_Missense_Mutation_p.R212Q|CPSF3L_uc001aej.1_Missense_Mutation_p.R137Q|CPSF3L_uc001aek.1_Missense_Mutation_p.R52Q	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	310						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)												0.202703	63.963791	76.116756	30	118	CC		KEEP	---	---	---	---	capture		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	Missense_Mutation	SNP	1239003	1239003	3965	1	C	T	T	23	23	CPSF3L	T	1	1
VPS13D	55187	broad.mit.edu	36	1	12442877	12442877	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12442877G>A	uc001atv.1	+	c.12501G>A	c.(12499-12501)TCG>TCA	p.S4167S	VPS13D_uc001atw.1_Silent_p.S4142S|VPS13D_uc001atx.1_Silent_p.S3354S|VPS13D_uc009vnl.1_Intron	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4166					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)												0.450185	344.80122	345.388488	122	149	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	12442877	12442877	17759	1	G	A	A	37	37	VPS13D	A	1	1
VPS13D	55187	broad.mit.edu	36	1	12489583	12489583	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12489583G>A	uc001atv.1	+	c.12884G>A	c.(12883-12885)CGA>CAA	p.R4295Q	VPS13D_uc001atw.1_Missense_Mutation_p.R4270Q|VPS13D_uc001atx.1_Missense_Mutation_p.R3482Q|VPS13D_uc009vnl.1_Non-coding_Transcript|SNORA59A_uc001atz.1_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4294					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)												0.280702	190.395831	202.708082	80	205	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	12489583	12489583	17759	1	G	A	A	37	37	VPS13D	A	1	1
VPS13D	55187	broad.mit.edu	36	1	12491633	12491633	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12491633G>A	uc001atv.1	+	c.13135G>A	c.(13135-13137)GAA>AAA	p.E4379K	VPS13D_uc001atw.1_Missense_Mutation_p.E4354K|VPS13D_uc001atx.1_Missense_Mutation_p.E3566K|VPS13D_uc009vnl.1_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4378					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)												0.416129	359.217426	361.120703	129	181	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	12491633	12491633	17759	1	G	A	A	37	37	VPS13D	A	1	1
DVL1	1855	broad.mit.edu	36	1	1265296	1265296	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1265296G>A	uc001aer.2	-	c.894C>T	c.(892-894)GGC>GGT	p.G298G	DVL1_uc001aeq.1_Silent_p.G15G|DVL1_uc009vka.1_5'UTR|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	298	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)								137				0.516484	133.87137	133.896151	47	44	GG		KEEP	---	---	---	---	capture		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	Silent	SNP	1265296	1265296	5021	1	G	A	A	38	38	DVL1	A	1	1
PRAMEF12	390999	broad.mit.edu	36	1	12757878	12757878	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12757878G>A	uc001aui.1	+	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	94										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)												0.197674	60.450789	75.099696	34	138	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	12757878	12757878	12864	1	G	A	A	38	38	PRAMEF12	A	1	1
PRAMEF1	65121	broad.mit.edu	36	1	12776936	12776936	+	Silent	SNP	G	A	A	rs1063766	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12776936G>A	uc001auj.1	+	c.573G>A	c.(571-573)CCG>CCA	p.P191P		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	191											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)												0.134931	139.556851	242.071046	107	686	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	12776936	12776936	12861	1	G	A	A	37	37	PRAMEF1	A	1	1
PRAMEF1	65121	broad.mit.edu	36	1	12778308	12778308	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12778308G>A	uc001auj.1	+	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	334	LRR 1.										0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)												0.130233	60.454989	117.635768	56	374	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	12778308	12778308	12861	1	G	A	A	38	38	PRAMEF1	A	1	1
PRAMEF1	65121	broad.mit.edu	36	1	12778645	12778645	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12778645G>T	uc001auj.1	+	c.1338G>T	c.(1336-1338)CAG>CAT	p.Q446H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	446											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)												0.130973	86.423954	161.214571	74	491	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	12778645	12778645	12861	1	G	T	T	34	34	PRAMEF1	T	3	3
PRDM2	7799	broad.mit.edu	36	1	13978096	13978096	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:13978096C>T	uc001avi.1	+	c.1219C>T	c.(1219-1221)CGA>TGA	p.R407*	PRDM2_uc001avg.1_Intron|PRDM2_uc001avh.1_Nonsense_Mutation_p.R407*|PRDM2_uc001avj.1_Intron|PRDM2_uc009vod.1_Nonsense_Mutation_p.R164*|PRDM2_uc001avk.1_Nonsense_Mutation_p.R206*|PRDM2_uc009voe.1_Intron|PRDM2_uc009vof.1_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	407	C2H2-type 2.				regulation of transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)												0.225166	65.972003	76.458908	34	117	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	Nonsense_Mutation	SNP	13978096	13978096	12900	1	C	T	T	27	27	PRDM2	T	5	1
PPIAL4G	644591	broad.mit.edu	36	1	142559077	142559077	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:142559077A>G	uc001ejt.1	-	c.295T>C	c.(295-297)TCC>CCC	p.S99P		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	99	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0														0.138577	68.605883	102.311156	37	230	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142559077	142559077	12753	1	A	G	G	10	10	PPIAL4G	G	4	4
NOTCH2NL	388677	broad.mit.edu	36	1	143920794	143920794	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:143920794G>A	uc001emm.2	+	c.-36_splice	c.e1+1		NBPF9_uc001ekm.1_Intron|NBPF9_uc001eld.2_Intron|NBPF9_uc001elj.2_Intron|NBPF9_uc009wij.1_Intron|NBPF9_uc009wik.1_Intron|NBPF9_uc001elq.1_Intron|NOTCH2NL_uc001emn.2_Splice_Site_SNP|NOTCH2NL_uc001emo.2_Splice_Site_SNP|NOTCH2NL_uc001emp.2_Splice_Site_SNP	NM_203458	NP_982283			Notch homolog 2 N-terminal like protein						cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1														0.178571	8.256713	10.982003	5	23	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	143920794	143920794	10952	1	G	A	A	44	44	NOTCH2NL	A	5	2
NOTCH2NL	388677	broad.mit.edu	36	1	143984724	143984724	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:143984724G>A	uc001emm.2	+	c.221G>A	c.(220-222)CGA>CAA	p.R74Q	NBPF9_uc001ekm.1_Intron|NBPF9_uc001eld.2_Intron|NBPF9_uc001elj.2_Intron|NBPF9_uc009wij.1_Intron|NBPF9_uc009wik.1_Intron|NBPF9_uc001elq.1_Intron|NOTCH2NL_uc001emn.2_Missense_Mutation_p.R74Q|NOTCH2NL_uc001emo.2_Missense_Mutation_p.R74Q|NOTCH2NL_uc001emp.2_Non-coding_Transcript	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	74	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1														0.156398	201.640209	296.715241	132	712	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143984724	143984724	10952	1	G	A	A	37	37	NOTCH2NL	A	1	1
PEX11B	8799	broad.mit.edu	36	1	144229503	144229503	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:144229503G>T	uc001eny.1	+	c.248G>T	c.(247-249)AGA>ATA	p.R83I	GNRHR2_uc009wiv.1_5'Flank|GNRHR2_uc001enx.2_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	83					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.456716	410.787039	411.338875	153	182	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144229503	144229503	12160	1	G	T	T	33	33	PEX11B	T	3	3
PEX11B	8799	broad.mit.edu	36	1	144234082	144234082	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:144234082C>T	uc001eny.1	+	c.586C>T	c.(586-588)CTC>TTC	p.L196F	ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.1_5'Flank|ITGA10_uc009wiw.1_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	196					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.485294	283.597146	283.636148	99	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144234082	144234082	12160	1	C	T	T	28	28	PEX11B	T	2	2
ITGA10	8515	broad.mit.edu	36	1	144238972	144238972	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:144238972C>A	uc001eoa.1	+	c.55C>A	c.(55-57)CTC>ATC	p.L19I	ITGA10_uc001enz.1_Missense_Mutation_p.L19I|ITGA10_uc009wiw.1_Intron	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	19					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)									450				0.426136	198.783284	199.622852	75	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144238972	144238972	8177	1	C	A	A	32	32	ITGA10	A	3	3
ITGA10	8515	broad.mit.edu	36	1	144241711	144241711	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:144241711G>T	uc001eoa.1	+	c.569G>T	c.(568-570)AGA>ATA	p.R190I	ITGA10_uc009wiw.1_Missense_Mutation_p.R47I	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	190	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)									450				0.234375	153.032603	173.720036	75	245	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144241711	144241711	8177	1	G	T	T	33	33	ITGA10	T	3	3
PIAS3	10401	broad.mit.edu	36	1	144289492	144289492	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:144289492G>A	uc001eoc.1	+	c.98G>A	c.(97-99)CGG>CAG	p.R33Q	PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	33	SAP.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.224299	160.53146	182.960804	72	249	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144289492	144289492	12301	1	G	A	A	39	39	PIAS3	A	1	1
PIAS3	10401	broad.mit.edu	36	1	144290019	144290019	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:144290019G>T	uc001eoc.1	+	c.468G>T	c.(466-468)GAG>GAT	p.E156D	PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	156	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.197568	126.617173	154.624822	65	264	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144290019	144290019	12301	1	G	T	T	35	35	PIAS3	T	3	3
PDZK1	5174	broad.mit.edu	36	1	144472726	144472726	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:144472726G>A	uc001eon.1	+	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A	PDZK1_uc001eoo.1_Silent_p.A394A	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	394	PDZ 4.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)													0.428571	121.546135	122.015512	45	60	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		Silent	SNP	144472726	144472726	12128	1	G	A	A	37	37	PDZK1	A	1	1
FMO5	2330	broad.mit.edu	36	1	145154040	145154040	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145154040G>A	uc001epi.1	-	c.232C>T	c.(232-234)CAT>TAT	p.H78Y	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron|FMO5_uc001eph.2_Missense_Mutation_p.H78Y|FMO5_uc001epj.1_Missense_Mutation_p.H78Y|FMO5_uc001epk.2_Missense_Mutation_p.H78Y	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	78					oxidation-reduction process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)													0.172043	80.205911	108.590168	48	231	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145154040	145154040	6200	1	G	A	A	45	45	FMO5	A	2	2
CHD1L	9557	broad.mit.edu	36	1	145202735	145202735	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145202735G>A	uc001epm.2	+	c.607G>A	c.(607-609)GGA>AGA	p.G203R	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron|CHD1L_uc001epn.2_Missense_Mutation_p.G90R|CHD1L_uc009wjg.1_Non-coding_Transcript|CHD1L_uc009wjh.1_Missense_Mutation_p.G203R|CHD1L_uc001epo.2_Intron|CHD1L_uc009wji.1_5'UTR	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	203	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)	5	all_hematologic(923;0.0487)													0.440476	104.162624	104.42184	37	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145202735	145202735	3458	1	G	A	A	39	39	CHD1L	A	1	1
CHD1L	9557	broad.mit.edu	36	1	145210563	145210563	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145210563G>A	uc001epm.2	+	c.1267G>A	c.(1267-1269)GCA>ACA	p.A423T	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron|CHD1L_uc001epn.2_Missense_Mutation_p.A310T|CHD1L_uc009wjg.1_Intron|CHD1L_uc009wjh.1_Intron|CHD1L_uc001epo.2_Missense_Mutation_p.A219T|CHD1L_uc009wji.1_Missense_Mutation_p.A142T	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	423	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)	5	all_hematologic(923;0.0487)													0.385787	203.33938	205.596395	76	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145210563	145210563	3458	1	G	A	A	42	42	CHD1L	A	2	2
CHD1L	9557	broad.mit.edu	36	1	145224665	145224665	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145224665G>T	uc001epm.2	+	c.2085G>T	c.(2083-2085)GAG>GAT	p.E695D	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron|CHD1L_uc001epn.2_Missense_Mutation_p.E582D|CHD1L_uc009wjg.1_Non-coding_Transcript|CHD1L_uc009wjh.1_Missense_Mutation_p.E601D|CHD1L_uc001epo.2_Missense_Mutation_p.E491D|CHD1L_uc009wji.1_Missense_Mutation_p.E414D	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	695					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)	5	all_hematologic(923;0.0487)													0.168627	68.954088	95.489412	43	212	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145224665	145224665	3458	1	G	T	T	35	35	CHD1L	T	3	3
BCL9	607	broad.mit.edu	36	1	145557245	145557245	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145557245G>T	uc001epq.1	+	c.661_splice	c.e8-1	p.N221_splice	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron	NM_004326	NP_004317			B-cell CLL/lymphoma 9						Wnt receptor signaling pathway	nucleus	protein binding			large_intestine(2)|ovary(2)	4	all_hematologic(923;0.115)									202				0.361809	367.648478	374.354294	144	254	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	145557245	145557245	1402	1	G	T	T	33	33	BCL9	T	5	3
BCL9	607	broad.mit.edu	36	1	145562611	145562611	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145562611G>A	uc001epq.1	+	c.3508G>A	c.(3508-3510)GGT>AGT	p.G1170S	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1170	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			large_intestine(2)|ovary(2)	4	all_hematologic(923;0.115)									202				0.146341	40.908786	60.610976	24	140	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145562611	145562611	1402	1	G	A	A	43	43	BCL9	A	2	2
GJA5	2702	broad.mit.edu	36	1	145697476	145697476	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145697476C>A	uc001eps.1	-	c.495G>T	c.(493-495)GTG>GTT	p.V165V	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron|GJA5_uc001ept.1_Silent_p.V165V|GJA5_uc009wjk.1_Silent_p.V165V	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	165	Helical; (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)													0.388186	246.736159	249.334157	92	145	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.202)		Silent	SNP	145697476	145697476	6672	1	C	A	A	21	21	GJA5	A	3	3
GJA8	2703	broad.mit.edu	36	1	145847733	145847733	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145847733G>A	uc001epu.1	+	c.1027G>A	c.(1027-1029)GAA>AAA	p.E343K	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron|GJA8_uc009wjl.1_Missense_Mutation_p.E343K	NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	343	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)	5	all_hematologic(923;0.0276)					Melanoma(76;1255 1795 8195 52096)								0.423077	29.317941	29.452653	11	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145847733	145847733	6673	1	G	A	A	37	37	GJA8	A	1	1
SSU72	29101	broad.mit.edu	36	1	1470163	1470163	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1470163C>A	uc001agd.1	-	c.307G>T	c.(307-309)GAC>TAC	p.D103Y	SSU72_uc009vkg.1_Missense_Mutation_p.D103Y	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Ssu72 RNA polymerase II CTD phosphatase homolog	103					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity				0	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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)								170				0.437376	579.734764	581.467554	220	283	CC		KEEP	---	---	---	---	capture		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	Missense_Mutation	SNP	1470163	1470163	15718	1	C	A	A	32	32	SSU72	A	3	3
MTMR11	10903	broad.mit.edu	36	1	148169028	148169028	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148169028G>A	uc001etm.1	-	c.1284C>T	c.(1282-1284)TAC>TAT	p.Y428Y	SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etl.2_Silent_p.Y472Y	NM_181873	NP_870988	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	500	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)									238				0.162791	67.995101	95.804096	42	216	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Silent	SNP	148169028	148169028	10333	1	G	A	A	36	36	MTMR11	A	2	2
MTMR11	10903	broad.mit.edu	36	1	148170491	148170491	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148170491C>A	uc001etm.1	-	c.876G>T	c.(874-876)GTG>GTT	p.V292V	MTMR11_uc001etl.2_Silent_p.V336V	NM_181873	NP_870988	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	364	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)									238				0.157143	16.774602	24.63159	11	59	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Silent	SNP	148170491	148170491	10333	1	C	A	A	29	29	MTMR11	A	3	3
MTMR11	10903	broad.mit.edu	36	1	148172722	148172722	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148172722G>A	uc001etm.1	-	c.453C>T	c.(451-453)TTC>TTT	p.F151F	MTMR11_uc001etl.2_Silent_p.F195F	NM_181873	NP_870988	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	223	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)									238				0.22549	97.549544	111.669782	46	158	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Silent	SNP	148172722	148172722	10333	1	G	A	A	37	37	MTMR11	A	1	1
OTUD7B	56957	broad.mit.edu	36	1	148205906	148205906	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148205906A>T	uc001etn.1	-	c.439T>A	c.(439-441)TTC>ATC	p.F147I	OTUD7B_uc001eto.2_Missense_Mutation_p.F68I	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	147					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding				0	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)													0.21519	68.958764	80.796059	34	124	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		Missense_Mutation	SNP	148205906	148205906	11732	1	A	T	T	3	3	OTUD7B	T	4	4
PLEKHO1	51177	broad.mit.edu	36	1	148397816	148397816	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148397816A>G	uc001ett.1	+	c.704A>G	c.(703-705)GAC>GGC	p.D235G	PLEKHO1_uc001etr.1_Missense_Mutation_p.D63G|PLEKHO1_uc001ets.1_Missense_Mutation_p.D52G|PLEKHO1_uc001etu.1_Missense_Mutation_p.D63G	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	235	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)													0.25974	103.424425	111.485214	40	114	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	148397816	148397816	12510	1	A	G	G	10	10	PLEKHO1	G	4	4
APH1A	51107	broad.mit.edu	36	1	148506407	148506407	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148506407C>A	uc001eua.1	-	c.454G>T	c.(454-456)GAC>TAC	p.D152Y	APH1A_uc001ety.1_Missense_Mutation_p.D152Y|APH1A_uc001etz.1_Missense_Mutation_p.D152Y|APH1A_uc001eub.1_Missense_Mutation_p.D36Y	NM_016022	NP_057106	Q96BI3	APH1A_HUMAN	anterior pharynx defective 1 homolog A isoform	152	Lumenal (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)													0.186813	28.71402	37.085402	17	74	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	148506407	148506407	781	1	C	A	A	32	32	APH1A	A	3	3
C1orf54	79630	broad.mit.edu	36	1	148514825	148514825	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148514825A>G	uc001euc.1	+	c.182A>G	c.(181-183)GAC>GGC	p.D61G	C1orf54_uc001eud.1_Missense_Mutation_p.D61G|C1orf54_uc001eue.1_Missense_Mutation_p.D61G|C1orf54_uc001euf.1_Missense_Mutation_p.D61G|C1orf54_uc001eug.1_Missense_Mutation_p.D61G	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	hypothetical protein LOC79630	61						extracellular region					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)													0.222973	88.302921	98.742927	33	115	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	148514825	148514825	2120	1	A	G	G	10	10	C1orf54	G	4	4
C1orf51	148523	broad.mit.edu	36	1	148522895	148522895	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148522895G>A	uc001euh.1	+	c.423G>A	c.(421-423)AAG>AAA	p.K141K	C1orf51_uc001eui.1_Silent_p.K53K|C1orf51_uc001euj.1_Silent_p.K141K	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	141											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)													0.226667	74.660515	84.95988	34	116	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Silent	SNP	148522895	148522895	2117	1	G	A	A	33	33	C1orf51	A	2	2
PRPF3	9129	broad.mit.edu	36	1	148574100	148574100	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148574100G>A	uc001eum.2	+	c.799G>A	c.(799-801)GCA>ACA	p.A267T	PRPF3_uc009wlp.1_Missense_Mutation_p.A132T|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	267					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)					Ovarian(168;1070 2670 5178 20729)								0.452381	102.230316	102.397178	38	46	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	Missense_Mutation	SNP	148574100	148574100	13008	1	G	A	A	46	46	PRPF3	A	2	2
RPRD2	23248	broad.mit.edu	36	1	148710841	148710841	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148710841G>A	uc009wlr.1	+	c.2793G>A	c.(2791-2793)CCG>CCA	p.P931P	RPRD2_uc001eun.1_Silent_p.P769P|RPRD2_uc001eup.2_Silent_p.P905P	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	931	Ser-rich.						protein binding			ovary(1)	1														0.488619	923.591657	923.666385	322	337	GG		KEEP	---	---	---	---	capture			Silent	SNP	148710841	148710841	14096	1	G	A	A	37	37	RPRD2	A	1	1
RPRD2	23248	broad.mit.edu	36	1	148712144	148712144	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148712144C>T	uc009wlr.1	+	c.4096C>T	c.(4096-4098)CGA>TGA	p.R1366*	RPRD2_uc001eun.1_3'UTR|RPRD2_uc001eup.2_Nonsense_Mutation_p.R1340*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1366	Pro-rich.						protein binding			ovary(1)	1														0.245455	56.772369	63.265454	27	83	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	148712144	148712144	14096	1	C	T	T	19	19	RPRD2	T	5	1
TARS2	80222	broad.mit.edu	36	1	148726968	148726968	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148726968C>T	uc001euq.1	+	c.77C>T	c.(76-78)TCG>TTG	p.S26L	TARS2_uc001eur.1_Missense_Mutation_p.S26L|TARS2_uc009wls.1_Missense_Mutation_p.S26L|TARS2_uc009wlt.1_5'UTR	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	26					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	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)				L-Threonine(DB00156)									0.195349	80.81872	99.437046	42	173	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		Missense_Mutation	SNP	148726968	148726968	16082	1	C	T	T	31	31	TARS2	T	1	1
ADAMTSL4	54507	broad.mit.edu	36	1	148792016	148792016	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148792016C>A	uc009wlw.1	+	c.97C>A	c.(97-99)CTT>ATT	p.L33I	ADAMTSL4_uc001euw.1_Missense_Mutation_p.L33I|ADAMTSL4_uc001eux.1_Missense_Mutation_p.L33I	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	33					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)	1	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)													0.173077	59.354241	80.369823	36	172	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	148792016	148792016	278	1	C	A	A	32	32	ADAMTSL4	A	3	3
HORMAD1	84072	broad.mit.edu	36	1	148953776	148953776	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148953776G>T	uc001evk.1	-	c.181C>A	c.(181-183)CTT>ATT	p.L61I	HORMAD1_uc001evl.1_Missense_Mutation_p.L61I|HORMAD1_uc001evm.1_Intron	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	61	HORMA.				meiosis|mitosis	nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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)									279				0.214815	56.489168	66.638262	29	106	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	148953776	148953776	7578	1	G	T	T	33	33	HORMAD1	T	3	3
HORMAD1	84072	broad.mit.edu	36	1	148956314	148956314	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148956314T>G	uc001evk.1	-	c.102A>C	c.(100-102)CTA>CTC	p.L34L	HORMAD1_uc001evl.1_Silent_p.L34L|HORMAD1_uc001evm.1_5'UTR	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	34	HORMA.				meiosis|mitosis	nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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)									279				0.485804	474.145738	474.200571	154	163	TT		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		Silent	SNP	148956314	148956314	7578	1	T	G	G	53	53	HORMAD1	G	4	4
CTSS	1520	broad.mit.edu	36	1	148991013	148991013	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148991013C>T	uc001evn.1	-	c.495G>A	c.(493-495)CAG>CAA	p.Q165Q	CTSS_uc001evo.1_Silent_p.Q165Q	NM_004079	NP_004070	P25774	CATS_HUMAN	cathepsin S preproprotein	165					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity				0	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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)									120				0.402542	273.257804	275.223069	95	141	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		Silent	SNP	148991013	148991013	4200	1	C	T	T	32	32	CTSS	T	2	2
CTSS	1520	broad.mit.edu	36	1	148997065	148997065	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148997065G>A	uc001evn.1	-	c.142C>T	c.(142-144)CGA>TGA	p.R48*	CTSS_uc001evo.1_Nonsense_Mutation_p.R48*	NM_004079	NP_004070	P25774	CATS_HUMAN	cathepsin S preproprotein	48					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity				0	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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)									120				0.173469	30.312576	40.181293	17	81	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		Nonsense_Mutation	SNP	148997065	148997065	4200	1	G	A	A	40	40	CTSS	A	5	1
ARNT	405	broad.mit.edu	36	1	149070964	149070964	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149070964G>A	uc001evr.1	-	c.909C>T	c.(907-909)TTC>TTT	p.F303F	ARNT_uc001evs.1_Silent_p.F288F|ARNT_uc009wmb.1_Silent_p.F294F|ARNT_uc009wmc.1_Silent_p.F303F|ARNT_uc009wmd.1_Silent_p.F288F|ARNT_uc009wme.1_Silent_p.F303F	NM_001668	NP_001659	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	303					mRNA transcription from RNA polymerase II promoter|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription|positive regulation of glycolysis|positive regulation of hormone biosynthetic process|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|transcription regulator activity			skin(2)|lung(1)|central_nervous_system(1)|kidney(1)	5	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)									290				0.380282	145.00689	146.794804	54	88	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		Silent	SNP	149070964	149070964	983	1	G	A	A	37	37	ARNT	A	1	1
SETDB1	9869	broad.mit.edu	36	1	149203353	149203353	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149203353C>A	uc001evu.1	+	c.3765C>A	c.(3763-3765)ATC>ATA	p.I1255I	SETDB1_uc001evv.1_Silent_p.I1254I	NM_012432	NP_036564	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 2	1255	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)								p.I1255M(NCIH510-Tumor)	452				0.274725	55.726319	59.8928	25	66	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		Silent	SNP	149203353	149203353	14627	1	C	A	A	30	30	SETDB1	A	3	3
LASS2	29956	broad.mit.edu	36	1	149206813	149206813	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149206813T>G	uc001evy.1	-	c.470A>C	c.(469-471)AAA>ACA	p.K157T	LASS2_uc001evz.1_Missense_Mutation_p.K157T|LASS2_uc009wmh.1_Missense_Mutation_p.K7T	NM_181746	NP_859530	Q96G23	LASS2_HUMAN	LAG1 longevity assurance 2	157	TLC.|Helical; (Potential).				regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)					Ovarian(75;371 1295 4880 12077 18753)								0.5	922.439108	922.439108	275	275	TT		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		Missense_Mutation	SNP	149206813	149206813	8962	1	T	G	G	64	64	LASS2	G	4	4
ANXA9	8416	broad.mit.edu	36	1	149227212	149227212	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149227212G>A	uc001ewa.2	+	c.719G>A	c.(718-720)AGC>AAC	p.S240N		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	240	Annexin 3.				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)													0.227273	103.370077	116.889829	45	153	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		Missense_Mutation	SNP	149227212	149227212	735	1	G	A	A	34	34	ANXA9	A	2	2
PRUNE	58497	broad.mit.edu	36	1	149273261	149273261	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149273261C>A	uc001ewh.1	+	c.1289C>A	c.(1288-1290)GCT>GAT	p.A430D	PRUNE_uc001ewi.1_Missense_Mutation_p.A248D|PRUNE_uc001ewj.1_Missense_Mutation_p.A145D|PRUNE_uc001ewk.1_Missense_Mutation_p.A195D|BNIPL_uc001ewl.1_5'Flank|BNIPL_uc009wmi.1_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune homolog	430						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	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)													0.179331	108.813838	140.658623	59	270	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		Missense_Mutation	SNP	149273261	149273261	13091	1	C	A	A	28	28	PRUNE	A	3	3
C1orf56	54964	broad.mit.edu	36	1	149287749	149287749	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149287749C>A	uc001ewn.1	+	c.802C>A	c.(802-804)CTC>ATC	p.L268I		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964	268						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)					GBM(146;891 3320 6873)						OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.423168	463.489967	465.68095	179	244	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		Missense_Mutation	SNP	149287749	149287749	2122	1	C	A	A	32	32	C1orf56	A	3	3
PSMD4	5710	broad.mit.edu	36	1	149501359	149501359	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149501359G>A	uc001exn.1	+	c.125G>A	c.(124-126)CGC>CAC	p.R42H	PSMD4_uc001exl.1_Missense_Mutation_p.R42H	NM_002810	NP_002801	P55036	PSMD4_HUMAN	proteasome 26S non-ATPase subunit 4	42	VWFA.				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|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)													0.333333	249.521066	256.829952	99	198	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	149501359	149501359	13153	1	G	A	A	38	38	PSMD4	A	1	1
ZNF687	57592	broad.mit.edu	36	1	149525904	149525904	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149525904G>T	uc001exq.1	+	c.513G>T	c.(511-513)GGG>GGT	p.G171G	ZNF687_uc001exp.1_Silent_p.G180G|ZNF687_uc009wmo.1_Silent_p.G171G|ZNF687_uc009wmp.1_Silent_p.G171G	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	171	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)													0.333333	139.663333	143.848497	57	114	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		Silent	SNP	149525904	149525904	18687	1	G	T	T	43	43	ZNF687	T	3	3
PI4KB	5298	broad.mit.edu	36	1	149555598	149555598	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149555598C>T	uc001exr.2	-	c.20G>A	c.(19-21)CGA>CAA	p.R7Q	PI4KB_uc001exs.2_5'UTR|PI4KB_uc001ext.2_5'UTR|PI4KB_uc001exu.2_5'UTR|PI4KB_uc009wmq.1_Missense_Mutation_p.R7Q	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	Error:Variant_position_missing_in_Q9UBF8_after_alignment					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)					Colon(154;765 1838 9854 28443 37492)				342				0.256198	68.001907	74.505057	31	90	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	149555598	149555598	12298	1	C	T	T	31	31	PI4KB	T	1	1
SELENBP1	8991	broad.mit.edu	36	1	149604089	149604089	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149604089C>T	uc001exx.1	-	c.1193G>A	c.(1192-1194)CGC>CAC	p.R398H	SELENBP1_uc001exy.1_Missense_Mutation_p.R295H|SELENBP1_uc001exz.1_Missense_Mutation_p.R295H|SELENBP1_uc009wms.1_Missense_Mutation_p.R234H|SELENBP1_uc009wmt.1_Missense_Mutation_p.R295H|SELENBP1_uc009wmu.1_Silent_p.A266A|SELENBP1_uc001eya.1_Missense_Mutation_p.R334H	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	398					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)													0.25	32.992986	36.405915	15	45	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	149604089	149604089	14500	1	C	T	T	27	27	SELENBP1	T	1	1
PSMB4	5692	broad.mit.edu	36	1	149638697	149638697	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149638697T>C	uc001eyc.1	+	c.10T>C	c.(10-12)TTT>CTT	p.F4L	PSMB4_uc001eyb.1_Missense_Mutation_p.F4L	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	4					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)											OREG0003903	type=REGULATORY REGION|Gene=PSMB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.459364	423.822698	424.228269	130	153	TT		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	149638697	149638697	13132	1	T	C	C	60	60	PSMB4	C	4	4
POGZ	23126	broad.mit.edu	36	1	149645267	149645267	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149645267C>A	uc001eyd.1	-	c.2868G>T	c.(2866-2868)GAG>GAT	p.E956D	POGZ_uc001eye.1_Missense_Mutation_p.E903D|POGZ_uc001eyf.1_Missense_Mutation_p.E912D|POGZ_uc009wmv.1_Missense_Mutation_p.E861D	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	956					cell division|kinetochore assembly|mitotic sister chromatid cohesion	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)													0.149038	45.67347	70.273311	31	177	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	149645267	149645267	12614	1	C	A	A	28	28	POGZ	A	3	3
POGZ	23126	broad.mit.edu	36	1	149662652	149662652	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149662652C>T	uc001eyd.1	-	c.1524_splice	c.e10-1	p.R508_splice	POGZ_uc001eye.1_Splice_Site_SNP_p.R455_splice|POGZ_uc001eyf.1_Splice_Site_SNP_p.R455_splice|POGZ_uc009wmv.1_Splice_Site_SNP_p.R413_splice	NM_015100	NP_055915			pogo transposable element with ZNF domain						cell division|kinetochore assembly|mitotic sister chromatid cohesion	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)													0.2	54.826875	64.874829	24	96	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		Splice_Site_SNP	SNP	149662652	149662652	12614	1	C	T	T	32	32	POGZ	T	5	2
POGZ	23126	broad.mit.edu	36	1	149663050	149663050	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149663050G>A	uc001eyd.1	-	c.1522C>T	c.(1522-1524)CGA>TGA	p.R508*	POGZ_uc001eye.1_Nonsense_Mutation_p.R455*|POGZ_uc001eyf.1_Nonsense_Mutation_p.R455*|POGZ_uc009wmv.1_Nonsense_Mutation_p.R413*	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	508	C2H2-type 2.				cell division|kinetochore assembly|mitotic sister chromatid cohesion	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)													0.371585	181.647872	184.300539	68	115	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		Nonsense_Mutation	SNP	149663050	149663050	12614	1	G	A	A	37	37	POGZ	A	5	1
POGZ	23126	broad.mit.edu	36	1	149669775	149669775	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149669775G>T	uc001eyd.1	-	c.450C>A	c.(448-450)ATC>ATA	p.I150I	POGZ_uc001eye.1_Silent_p.I97I|POGZ_uc001eyf.1_Silent_p.I97I|POGZ_uc009wmv.1_Intron|POGZ_uc001eyg.1_Silent_p.I150I	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	150					cell division|kinetochore assembly|mitotic sister chromatid cohesion	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)													0.218612	308.788348	358.231438	148	529	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		Silent	SNP	149669775	149669775	12614	1	G	T	T	45	45	POGZ	T	3	3
CGN	57530	broad.mit.edu	36	1	149774960	149774960	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149774960G>T	uc009wmw.1	+	c.3159G>T	c.(3157-3159)CAG>CAT	p.Q1053H		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1047	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)													0.2375	39.180607	44.222217	19	61	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	149774960	149774960	3436	1	G	T	T	33	33	CGN	T	3	3
MRPL9	65005	broad.mit.edu	36	1	150000632	150000632	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150000632G>T	uc001eyv.1	-	c.507C>A	c.(505-507)AGC>AGA	p.S169R	MRPL9_uc009wmz.1_Non-coding_Transcript|OAZ3_uc001eyw.2_5'Flank	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	169					translation	mitochondrial ribosome	structural constituent of ribosome			ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)													0.458065	208.386364	208.625862	71	84	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	150000632	150000632	10213	1	G	T	T	34	34	MRPL9	T	3	3
LINGO4	339398	broad.mit.edu	36	1	150040369	150040369	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150040369C>A	uc001ezf.1	-	c.1436G>T	c.(1435-1437)AGA>ATA	p.R479I	LINGO4_uc009wnc.1_Missense_Mutation_p.R479I	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	479	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)													0.226216	209.731799	242.343834	107	366	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	150040369	150040369	9144	1	C	A	A	32	32	LINGO4	A	3	3
THEM5	284486	broad.mit.edu	36	1	150086945	150086945	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150086945G>T	uc009wnd.1	-	c.593C>A	c.(592-594)TCT>TAT	p.S198Y		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	198							hydrolase activity			ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)													0.394495	108.896199	109.959078	43	66	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	150086945	150086945	16387	1	G	T	T	33	33	THEM5	T	3	3
S100A10	6281	broad.mit.edu	36	1	150222337	150222337	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150222337A>G	uc001ezl.1	-	c.220T>C	c.(220-222)TCC>CCC	p.S74P		NM_002966	NP_002957	P60903	S10AA_HUMAN	S100 calcium binding protein A10	74					signal transduction		calcium ion binding|receptor binding				0	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)													0.197674	167.945705	197.198778	68	276	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.246)		Missense_Mutation	SNP	150222337	150222337	14252	1	A	G	G	9	9	S100A10	G	4	4
TCHHL1	126637	broad.mit.edu	36	1	150324150	150324150	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150324150G>A	uc001ezo.1	-	c.2632C>T	c.(2632-2634)CCC>TCC	p.P878S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	878							calcium ion binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.430493	269.753794	270.694085	96	127	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.246)		Missense_Mutation	SNP	150324150	150324150	16227	1	G	A	A	41	41	TCHHL1	A	2	2
TCHHL1	126637	broad.mit.edu	36	1	150325256	150325256	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150325256G>T	uc001ezo.1	-	c.1526C>A	c.(1525-1527)TCT>TAT	p.S509Y		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	509							calcium ion binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.414634	492.683902	495.566871	187	264	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.246)		Missense_Mutation	SNP	150325256	150325256	16227	1	G	T	T	33	33	TCHHL1	T	3	3
TCHH	7062	broad.mit.edu	36	1	150348986	150348986	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150348986G>A	uc001ezp.2	-	c.3331C>T	c.(3331-3333)CGG>TGG	p.R1111W	TCHH_uc009wne.1_Missense_Mutation_p.R1111W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1111	10 X 30 AA tandem repeats.|4-7.				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)													0.231788	139.583958	159.627282	70	232	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150348986	150348986	16226	1	G	A	A	37	37	TCHH	A	1	1
TCHH	7062	broad.mit.edu	36	1	150350379	150350379	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150350379T>C	uc001ezp.2	-	c.1938A>G	c.(1936-1938)CAA>CAG	p.Q646Q	TCHH_uc009wne.1_Silent_p.Q646Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	646	9 X 28 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)													0.166667	74.536091	96.014377	34	170	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Silent	SNP	150350379	150350379	16226	1	T	C	C	60	60	TCHH	C	4	4
TCHH	7062	broad.mit.edu	36	1	150351523	150351523	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150351523G>A	uc001ezp.2	-	c.794C>T	c.(793-795)CCG>CTG	p.P265L	TCHH_uc009wne.1_Missense_Mutation_p.P265L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	265					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)													0.18984	135.012795	168.676232	71	303	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150351523	150351523	16226	1	G	A	A	39	39	TCHH	A	1	1
FLG	2312	broad.mit.edu	36	1	150542186	150542186	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150542186G>A	uc001ezu.1	-	c.11800C>T	c.(11800-11802)CTT>TTT	p.L3934F		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3934	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.502591	288.357548	288.358568	97	96	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150542186	150542186	6160	1	G	A	A	33	33	FLG	A	2	2
FLG	2312	broad.mit.edu	36	1	150543205	150543205	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150543205C>T	uc001ezu.1	-	c.10781G>A	c.(10780-10782)AGC>AAC	p.S3594N		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3594	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.218634	393.218424	451.925721	176	629	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150543205	150543205	6160	1	C	T	T	28	28	FLG	T	2	2
FLG	2312	broad.mit.edu	36	1	150543982	150543982	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150543982G>T	uc001ezu.1	-	c.10004C>A	c.(10003-10005)TCC>TAC	p.S3335Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3335	Filaggrin 20.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.244324	471.177739	526.244083	226	699	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150543982	150543982	6160	1	G	T	T	41	41	FLG	T	3	3
FLG2	388698	broad.mit.edu	36	1	150595215	150595215	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150595215G>A	uc001ezw.2	-	c.1671C>T	c.(1669-1671)GGC>GGT	p.G557G		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	557	Ser-rich.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.196721	259.391123	316.925447	132	539	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Silent	SNP	150595215	150595215	6161	1	G	A	A	42	42	FLG2	A	2	2
LCE2D	353141	broad.mit.edu	36	1	150903452	150903452	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150903452C>T	uc001fag.1	+	c.247C>T	c.(247-249)CGG>TGG	p.R83W	LCE2D_uc009wnj.1_Missense_Mutation_p.R83W	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	83	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.177778	77.808914	104.206207	48	222	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150903452	150903452	8991	1	C	T	T	23	23	LCE2D	T	1	1
KPRP	448834	broad.mit.edu	36	1	150998888	150998888	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150998888C>T	uc001fal.1	+	c.200C>T	c.(199-201)TCT>TTT	p.S67F	KPRP_uc009wnn.1_Missense_Mutation_p.S67F	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	67	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.43769	424.642537	425.757664	144	185	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150998888	150998888	8751	1	C	T	T	32	32	KPRP	T	2	2
KPRP	448834	broad.mit.edu	36	1	150999531	150999531	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150999531C>T	uc001fal.1	+	c.843C>T	c.(841-843)AGC>AGT	p.S281S	KPRP_uc009wnn.1_Silent_p.S281S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	281	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.369048	80.597279	81.865411	31	53	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Silent	SNP	150999531	150999531	8751	1	C	T	T	28	28	KPRP	T	2	2
LCE1D	353134	broad.mit.edu	36	1	151036981	151036981	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151036981T>C	uc009wnp.1	+	c.87T>C	c.(85-87)TGT>TGC	p.C29C	LCE1D_uc001fao.1_Silent_p.C29C	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	29	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.366906	158.439384	160.582829	51	88	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Silent	SNP	151036981	151036981	8985	1	T	C	C	58	58	LCE1D	C	4	4
SMCP	4184	broad.mit.edu	36	1	151123762	151123762	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151123762C>A	uc001fat.1	+	c.240C>A	c.(238-240)GTC>GTA	p.V80V	SMCP_uc009wnr.1_Silent_p.V80V	NM_030663	NP_109588	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich	80					penetration of zona pellucida|sperm motility	mitochondrial membrane					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.200599	122.313267	150.183281	67	267	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Silent	SNP	151123762	151123762	15287	1	C	A	A	32	32	SMCP	A	3	3
IVL	3713	broad.mit.edu	36	1	151149128	151149128	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151149128A>G	uc001fau.1	+	c.231A>G	c.(229-231)CAA>CAG	p.Q77Q	IVL_uc009wns.1_Silent_p.Q77Q	NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	77					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)													0.407895	99.118567	99.679548	31	45	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Silent	SNP	151149128	151149128	8233	1	A	G	G	2	2	IVL	G	4	4
SPRR3	6707	broad.mit.edu	36	1	151242276	151242276	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151242276G>T	uc001fax.2	+	c.156G>T	c.(154-156)AAG>AAT	p.K52N	SPRR3_uc001faz.2_Missense_Mutation_p.K52N|SPRR3_uc001fay.2_Missense_Mutation_p.K52N|SPRR3_uc009wnw.1_Missense_Mutation_p.K52N	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	52	2.|14 X 8 AA approximate tandem repeats.				keratinization|wound healing	cytoplasm	protein binding|structural molecule activity				0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.448276	138.267971	138.540487	52	64	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	151242276	151242276	15617	1	G	T	T	33	33	SPRR3	T	3	3
SPRR2F	6705	broad.mit.edu	36	1	151351615	151351615	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151351615T>C	uc001fbi.1	-	c.219A>G	c.(217-219)TAA>TAG	p.*73*	SPRR2A_uc001fbe.1_Intron|SPRR2A_uc001fbf.1_Intron|SPRR2F_uc009woc.1_Silent_p.*73*	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	73					keratinization	cornified envelope|cytoplasm					0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.189381	257.227441	308.189435	107	458	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Silent	SNP	151351615	151351615	15615	1	T	C	C	60	60	SPRR2F	C	4	4
SPRR2F	6705	broad.mit.edu	36	1	151351777	151351777	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151351777G>A	uc001fbi.1	-	c.57C>T	c.(55-57)CCC>CCT	p.P19P	SPRR2A_uc001fbe.1_Intron|SPRR2A_uc001fbf.1_Intron|SPRR2F_uc009woc.1_Silent_p.P19P	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	19					keratinization	cornified envelope|cytoplasm					0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.217848	188.552032	216.495718	83	298	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Silent	SNP	151351777	151351777	15615	1	G	A	A	39	39	SPRR2F	A	1	1
PGLYRP3	114771	broad.mit.edu	36	1	151541656	151541656	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151541656C>T	uc001fbn.1	-	c.581G>A	c.(580-582)TGC>TAC	p.C194Y		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	194					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			ovary(2)|pancreas(1)	3	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)													0.193548	61.174049	77.509484	36	150	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	151541656	151541656	12218	1	C	T	T	25	25	PGLYRP3	T	2	2
S100A8	6279	broad.mit.edu	36	1	151629331	151629331	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151629331C>A	uc001fbs.1	-	c.154G>T	c.(154-156)GAC>TAC	p.D52Y		NM_002964	NP_002955	P05109	S10A8_HUMAN	S100 calcium-binding protein A8	52	EF-hand 2.				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)													0.376658	363.45815	368.489864	142	235	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	151629331	151629331	14266	1	C	A	A	32	32	S100A8	A	3	3
S100A4	6275	broad.mit.edu	36	1	151782958	151782958	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151782958C>A	uc001fby.1	-	c.207G>T	c.(205-207)GAG>GAT	p.E69D	S100A4_uc001fbz.1_Missense_Mutation_p.E69D	NM_019554	NP_062427	P26447	S10A4_HUMAN	S100 calcium-binding protein A4	69	2; high affinity (Potential).|EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)													0.460474	631.628445	632.32456	233	273	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	151782958	151782958	14260	1	C	A	A	24	24	S100A4	A	3	3
S100A3	6274	broad.mit.edu	36	1	151786934	151786934	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151786934C>A	uc001fca.1	-	c.154G>T	c.(154-156)GAA>TAA	p.E52*	S100A4_uc001fby.1_5'Flank|S100A4_uc001fbz.1_5'Flank	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	52	EF-hand 2.						calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)													0.19174	113.98697	144.094831	65	274	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Nonsense_Mutation	SNP	151786934	151786934	14259	1	C	A	A	30	30	S100A3	A	5	3
ILF2	3608	broad.mit.edu	36	1	151901561	151901561	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151901561C>T	uc001fcr.1	-	c.1108G>A	c.(1108-1110)GAA>AAA	p.E370K	ILF2_uc009wok.1_Missense_Mutation_p.E348K	NM_004515	NP_004506	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	370	Poly-Glu.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|RNA polymerase II transcription factor activity|transferase activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)													0.264463	79.041191	85.112605	32	89	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	151901561	151901561	8012	1	C	T	T	32	32	ILF2	T	2	2
NPR1	4881	broad.mit.edu	36	1	151928954	151928954	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151928954C>T	uc001fcs.2	+	c.2806C>T	c.(2806-2808)CGG>TGG	p.R936W		NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	936	Guanylate cyclase.|Cytoplasmic (Potential).				diuresis|intracellular signal transduction|natriuresis|negative regulation of angiogenesis|negative regulation of cell growth|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	integral to plasma membrane	ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|breast(1)	6	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)				Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	Pancreas(141;1349 1870 15144 15830 40702)				382				0.24	12.036798	13.581076	6	19	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.151)		Missense_Mutation	SNP	151928954	151928954	10999	1	C	T	T	27	27	NPR1	T	1	1
INTS3	65123	broad.mit.edu	36	1	151996693	151996693	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151996693C>T	uc009wom.1	+	c.979C>T	c.(979-981)CGA>TGA	p.R327*	INTS3_uc001fct.1_Nonsense_Mutation_p.R327*|INTS3_uc001fcu.1_Nonsense_Mutation_p.R19*|INTS3_uc001fcv.1_Nonsense_Mutation_p.R121*|INTS3_uc001fcw.1_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	328					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)	2	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)													0.38206	308.546303	312.219695	115	186	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.151)		Nonsense_Mutation	SNP	151996693	151996693	8080	1	C	T	T	27	27	INTS3	T	5	1
SLC27A3	11000	broad.mit.edu	36	1	152017420	152017420	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152017420C>T	uc001fcz.1	+	c.1462C>T	c.(1462-1464)CGG>TGG	p.R488W	SLC27A3_uc009won.1_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	solute carrier family 27 member 3	488					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			ovary(1)	1	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)													0.389671	216.108949	218.367055	83	130	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.151)		Missense_Mutation	SNP	152017420	152017420	15024	1	C	T	T	27	27	SLC27A3	T	1	1
DENND4B	9909	broad.mit.edu	36	1	152178760	152178760	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152178760A>G	uc001fdd.1	-	c.1748T>C	c.(1747-1749)GTC>GCC	p.V583A		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	583	dDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)													0.404255	343.056646	345.322866	114	168	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.151)		Missense_Mutation	SNP	152178760	152178760	4613	1	A	G	G	10	10	DENND4B	G	4	4
NUP210L	91181	broad.mit.edu	36	1	152297212	152297212	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152297212C>A	uc001fdw.1	-	c.3084G>T	c.(3082-3084)TTG>TTT	p.L1028F	NUP210L_uc009woq.1_Intron|NUP210L_uc009wop.1_5'Flank	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1028						integral to membrane				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)													0.389091	286.836817	289.807875	107	168	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		Missense_Mutation	SNP	152297212	152297212	11166	1	C	A	A	21	21	NUP210L	A	3	3
NUP210L	91181	broad.mit.edu	36	1	152357881	152357881	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152357881G>T	uc001fdw.1	-	c.1354C>A	c.(1354-1356)CTA>ATA	p.L452I	NUP210L_uc009woq.1_5'UTR	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	452						integral to membrane				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)													0.19244	103.220514	128.942649	56	235	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		Missense_Mutation	SNP	152357881	152357881	11166	1	G	T	T	33	33	NUP210L	T	3	3
C1orf43	25912	broad.mit.edu	36	1	152453649	152453649	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152453649C>T	uc001fei.2	-	c.194G>A	c.(193-195)CGA>CAA	p.R65Q	C1orf43_uc001fef.1_5'Flank|C1orf43_uc001feg.2_Missense_Mutation_p.R31Q|C1orf43_uc001feh.2_Missense_Mutation_p.R31Q|C1orf43_uc001fej.2_Missense_Mutation_p.R65Q|C1orf43_uc009wos.1_Missense_Mutation_p.R65Q|C1orf43_uc001fek.2_Missense_Mutation_p.R65Q|C1orf43_uc001fel.2_Missense_Mutation_p.R31Q	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	hypothetical protein LOC25912 isoform 3	65						integral to membrane	coenzyme binding|oxidoreductase activity				0	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)													0.343874	227.974513	233.409141	87	166	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152453649	152453649	2114	1	C	T	T	31	31	C1orf43	T	1	1
UBAP2L	9898	broad.mit.edu	36	1	152499086	152499086	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152499086G>A	uc001fep.2	+	c.2535G>A	c.(2533-2535)CCG>CCA	p.P845P	UBAP2L_uc009wot.1_Silent_p.P845P|UBAP2L_uc001feq.2_Silent_p.P41P|UBAP2L_uc001fer.1_Silent_p.P41P	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	845					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)													0.231111	112.187128	127.094132	52	173	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.185)		Silent	SNP	152499086	152499086	17395	1	G	A	A	38	38	UBAP2L	A	1	1
ATP8B2	57198	broad.mit.edu	36	1	152583074	152583074	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152583074C>T	uc001fex.1	+	c.1939C>T	c.(1939-1941)CGA>TGA	p.R647*		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	633	Cytoplasmic (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)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)													0.386139	97.496681	98.645095	39	62	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.185)		Nonsense_Mutation	SNP	152583074	152583074	1214	1	C	T	T	27	27	ATP8B2	T	5	1
ATP8B2	57198	broad.mit.edu	36	1	152583511	152583511	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152583511C>T	uc001fex.1	+	c.2151C>T	c.(2149-2151)ATC>ATT	p.I717I		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	703	Cytoplasmic (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)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)													0.44186	264.887143	265.521048	95	120	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.185)		Silent	SNP	152583511	152583511	1214	1	C	T	T	31	31	ATP8B2	T	1	1
TDRD10	126668	broad.mit.edu	36	1	152760576	152760576	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152760576G>A	uc009wow.1	+	c.366G>A	c.(364-366)CCG>CCA	p.P122P	TDRD10_uc001ffd.1_Silent_p.P122P|TDRD10_uc001ffe.1_Silent_p.P43P	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	122							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)													0.454756	529.114298	529.885707	196	235	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.185)		Silent	SNP	152760576	152760576	16257	1	G	A	A	38	38	TDRD10	A	1	1
CHRNB2	1141	broad.mit.edu	36	1	152810312	152810312	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152810312C>T	uc001ffg.1	+	c.389C>T	c.(388-390)TCC>TTC	p.S130F		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	130	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)				Nicotine(DB00184)									0.440397	380.725285	381.65958	133	169	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.185)		Missense_Mutation	SNP	152810312	152810312	3525	1	C	T	T	30	30	CHRNB2	T	2	2
ADAR	103	broad.mit.edu	36	1	152841324	152841324	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152841324C>T	uc001ffh.1	-	c.418G>A	c.(418-420)GAA>AAA	p.E140K	ADAR_uc001ffi.1_Missense_Mutation_p.E140K|ADAR_uc001ffj.1_Missense_Mutation_p.E140K|ADAR_uc001ffk.1_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Non-coding_Transcript|ADAR_uc001ffn.1_3'UTR	NM_001111	NP_001020278	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	140	DRADA 1.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)	5	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)													0.511905	382.919654	382.9529	129	123	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	Missense_Mutation	SNP	152841324	152841324	282	1	C	T	T	30	30	ADAR	T	2	2
KAZ	23254	broad.mit.edu	36	1	15293309	15293309	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15293309G>A	uc001avm.2	+	c.1269G>A	c.(1267-1269)TCG>TCA	p.S423S		NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	423					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0														0.551282	126.035844	126.216977	43	35	GG		KEEP	---	---	---	---	capture			Silent	SNP	15293309	15293309	8292	1	G	A	A	39	39	KAZ	A	1	1
KAZ	23254	broad.mit.edu	36	1	15293383	15293383	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15293383C>T	uc001avm.2	+	c.1343C>T	c.(1342-1344)GCG>GTG	p.A448V		NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	448	SAM 1.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0														0.163636	12.986822	18.866124	9	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15293383	15293383	8292	1	C	T	T	27	27	KAZ	T	1	1
KCNN3	3782	broad.mit.edu	36	1	152954044	152954044	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152954044C>T	uc001ffp.1	-	c.1761G>A	c.(1759-1761)AAG>AAA	p.K587K	KCNN3_uc001ffo.1_Silent_p.K282K	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	592	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)													0.197674	103.736516	125.765064	51	207	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.00819)		Silent	SNP	152954044	152954044	8385	1	C	T	T	28	28	KCNN3	T	2	2
KAZ	23254	broad.mit.edu	36	1	15300824	15300824	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15300824C>A	uc001avm.2	+	c.1746C>A	c.(1744-1746)ATC>ATA	p.I582I	KAZ_uc001avs.2_Silent_p.I29I	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	582	SAM 2.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0														0.25	7.219471	7.901128	3	9	CC		KEEP	---	---	---	---	capture			Silent	SNP	15300824	15300824	8292	1	C	A	A	31	31	KAZ	A	3	3
KCNN3	3782	broad.mit.edu	36	1	153011282	153011282	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153011282C>T	uc001ffp.1	-	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H	KCNN3_uc001ffo.1_Missense_Mutation_p.R109H|KCNN3_uc009wox.1_Missense_Mutation_p.R414H	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	419	Helical; Name=Segment S4; (Potential).					integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)													0.482456	149.419396	149.449384	55	59	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.00819)		Missense_Mutation	SNP	153011282	153011282	8385	1	C	T	T	27	27	KCNN3	T	1	1
PBXIP1	57326	broad.mit.edu	36	1	153187245	153187245	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153187245G>T	uc001ffr.1	-	c.631C>A	c.(631-633)CTC>ATC	p.L211I	PBXIP1_uc001ffs.1_Missense_Mutation_p.L182I	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	211					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)													0.191011	31.216551	39.165495	17	72	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.00034)		Missense_Mutation	SNP	153187245	153187245	11916	1	G	T	T	35	35	PBXIP1	T	3	3
PYGO2	90780	broad.mit.edu	36	1	153198438	153198438	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153198438G>A	uc001fft.1	-	c.662C>T	c.(661-663)CCT>CTT	p.P221L		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	pygopus homolog 2	221	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)					NSCLC(87;357 1460 1955 21029 23522)								0.45283	148.086128	148.291787	48	58	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.00034)		Missense_Mutation	SNP	153198438	153198438	13322	1	G	A	A	35	35	PYGO2	A	2	2
FLAD1	80308	broad.mit.edu	36	1	153232107	153232107	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153232107C>T	uc001fgf.1	+	c.1734C>T	c.(1732-1734)AAC>AAT	p.N578N	FLAD1_uc001fge.1_Silent_p.N481N|FLAD1_uc001fgg.1_3'UTR|FLAD1_uc001fgh.1_3'UTR|LENEP_uc001fgi.1_5'Flank|LENEP_uc009woz.1_5'Flank	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	578					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)													0.2	37.940466	46.316789	20	80	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.00034)		Silent	SNP	153232107	153232107	6158	1	C	T	T	19	19	FLAD1	T	1	1
ZBTB7B	51043	broad.mit.edu	36	1	153255537	153255537	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153255537C>T	uc001fgj.2	+	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	ZBTB7B_uc001fgk.2_Missense_Mutation_p.R458C|ZBTB7B_uc009wpa.1_Missense_Mutation_p.R458C|ZBTB7B_uc001fgl.2_Missense_Mutation_p.R458C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	458					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|specific RNA polymerase II transcription factor activity|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)													0.410959	73.685485	74.174522	30	43	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.00034)		Missense_Mutation	SNP	153255537	153255537	18141	1	C	T	T	27	27	ZBTB7B	T	1	1
DCST2	127579	broad.mit.edu	36	1	153271796	153271796	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153271796C>T	uc001fgm.1	-	c.512G>A	c.(511-513)CGG>CAG	p.R171Q	DCST2_uc009wpb.1_Non-coding_Transcript|DCST1_uc001fgn.1_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	171	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)													0.170507	73.4652	95.73128	37	180	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.00034)		Missense_Mutation	SNP	153271796	153271796	4474	1	C	T	T	23	23	DCST2	T	1	1
DCST1	149095	broad.mit.edu	36	1	153273585	153273585	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153273585C>A	uc001fgn.1	+	c.112C>A	c.(112-114)CTG>ATG	p.L38M	DCST2_uc001fgm.1_5'Flank|DCST2_uc009wpb.1_5'Flank	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	38	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)													0.45614	407.005904	407.582848	156	186	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.000434)		Missense_Mutation	SNP	153273585	153273585	4473	1	C	A	A	24	24	DCST1	A	3	3
DCST1	149095	broad.mit.edu	36	1	153280539	153280539	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153280539G>A	uc001fgn.1	+	c.574G>A	c.(574-576)GCC>ACC	p.A192T		NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	192	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)													0.213235	56.200936	66.537353	29	107	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.000434)		Missense_Mutation	SNP	153280539	153280539	4473	1	G	A	A	38	38	DCST1	A	1	1
DCST1	149095	broad.mit.edu	36	1	153282511	153282511	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153282511G>T	uc001fgn.1	+	c.1074G>T	c.(1072-1074)GAG>GAT	p.E358D		NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	358	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)													0.231707	78.264582	89.01541	38	126	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.000434)		Missense_Mutation	SNP	153282511	153282511	4473	1	G	T	T	35	35	DCST1	T	3	3
DCST1	149095	broad.mit.edu	36	1	153286997	153286997	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153286997C>T	uc001fgn.1	+	c.1723C>T	c.(1723-1725)CGG>TGG	p.R575W		NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	575	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)													0.176991	36.23221	47.341394	20	93	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(34;0.000434)		Missense_Mutation	SNP	153286997	153286997	4473	1	C	T	T	23	23	DCST1	T	1	1
EFNA3	1944	broad.mit.edu	36	1	153325027	153325027	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153325027G>A	uc001fhf.1	+	c.493G>A	c.(493-495)GTC>ATC	p.V165I	EFNA3_uc001fhg.1_Missense_Mutation_p.V142I	NM_004952	NP_004943	P52797	EFNA3_HUMAN	ephrin A3	165					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity				0	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.484848	42.897668	42.904154	16	17	GG		KEEP	---	---	---	---	capture	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		Missense_Mutation	SNP	153325027	153325027	5140	1	G	A	A	40	40	EFNA3	A	1	1
RAG1AP1	55974	broad.mit.edu	36	1	153377184	153377184	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153377184G>T	uc001fhj.2	+	c.550G>T	c.(550-552)GAT>TAT	p.D184Y	RAG1AP1_uc001fhk.2_Missense_Mutation_p.D129Y|RAG1AP1_uc001fhl.2_Missense_Mutation_p.D130Y	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	recombination activating gene 1 activating	184	Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|nucleus|plasma membrane	glucoside transmembrane transporter activity				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)													0.425926	243.639212	244.677942	92	124	GG		KEEP	---	---	---	---	capture	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		Missense_Mutation	SNP	153377184	153377184	13464	1	G	T	T	33	33	RAG1AP1	T	3	3
THBS3	7059	broad.mit.edu	36	1	153439302	153439302	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153439302C>A	uc001fix.1	-	c.882G>T	c.(880-882)GAG>GAT	p.E294D	THBS3_uc009wqi.1_Missense_Mutation_p.E285D|THBS3_uc001fiy.1_5'UTR|THBS3_uc001fiz.1_Missense_Mutation_p.E294D|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	294	EGF-like 1.				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)									217				0.450331	187.268941	187.594854	68	83	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	153439302	153439302	16383	1	C	A	A	20	20	THBS3	A	3	3
GBA	2629	broad.mit.edu	36	1	153476047	153476047	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153476047C>T	uc001fjh.1	-	c.438G>A	c.(436-438)TCG>TCA	p.S146S	GBA_uc001fji.1_Silent_p.S146S|GBA_uc001fjj.1_Silent_p.S146S|GBA_uc001fjk.1_Silent_p.S146S|GBA_uc001fjl.1_Silent_p.S146S|GBA_uc009wqk.1_Silent_p.S59S	NM_000157	NP_001005750	P04062	GLCM_HUMAN	glucocerebrosidase precursor	146			S -> L (in GD; type 2).		carbohydrate metabolic process|cell death|lysosome organization|sphingolipid metabolic process	lysosomal membrane	cation binding|glucosylceramidase activity|protein binding			ovary(1)	1	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)				Alglucerase(DB00088)|Imiglucerase(DB00053)									0.45	147.927251	148.18924	54	66	CC		KEEP	---	---	---	---	capture	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)		Silent	SNP	153476047	153476047	6532	1	C	T	T	19	19	GBA	T	1	1
CLK2	1196	broad.mit.edu	36	1	153499650	153499650	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153499650G>A	uc001fjy.1	-	c.1483C>T	c.(1483-1485)CGG>TGG	p.R495W	SCAMP3_uc001fjr.1_5'Flank|SCAMP3_uc001fjs.1_5'Flank|SCAMP3_uc001fjt.1_5'Flank|SCAMP3_uc001fju.1_5'Flank|SCAMP3_uc001fjv.1_5'Flank|CLK2_uc001fjw.1_Missense_Mutation_p.R494W|CLK2_uc001fjx.1_Missense_Mutation_p.R267W|CLK2_uc009wqm.1_Missense_Mutation_p.R495W	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	495					protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)									135				0.466667	59.569623	59.613196	21	24	GG		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	153499650	153499650	3675	1	G	A	A	37	37	CLK2	A	1	1
CLK2	1196	broad.mit.edu	36	1	153507295	153507295	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153507295C>T	uc001fjy.1	-	c.98G>A	c.(97-99)CGC>CAC	p.R33H	CLK2_uc001fjw.1_Missense_Mutation_p.R33H|CLK2_uc001fjx.1_5'UTR|CLK2_uc009wqm.1_Missense_Mutation_p.R33H	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	33					protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)									135				0.220408	108.8327	126.3922	54	191	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	153507295	153507295	3675	1	C	T	T	27	27	CLK2	T	1	1
HCN3	57657	broad.mit.edu	36	1	153520428	153520428	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153520428C>T	uc001fjz.1	+	c.748C>T	c.(748-750)CGC>TGC	p.R250C		NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	250	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)													0.220588	96.414112	111.045384	45	159	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	153520428	153520428	7280	1	C	T	T	31	31	HCN3	T	1	1
PKLR	5313	broad.mit.edu	36	1	153529955	153529955	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153529955G>A	uc001fkb.2	-	c.1167C>T	c.(1165-1167)AGC>AGT	p.S389S	PKLR_uc001fka.2_Silent_p.S358S	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	389					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(3)|ovary(1)	4	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)				Pyruvic acid(DB00119)									0.161074	35.805002	52.099084	24	125	GG		KEEP	---	---	---	---	capture	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Silent	SNP	153529955	153529955	12401	1	G	A	A	38	38	PKLR	A	1	1
PKLR	5313	broad.mit.edu	36	1	153531117	153531117	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153531117G>A	uc001fkb.2	-	c.745C>T	c.(745-747)CGG>TGG	p.R249W	PKLR_uc001fka.2_Missense_Mutation_p.R218W	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	249					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(3)|ovary(1)	4	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)				Pyruvic acid(DB00119)									0.425532	54.01818	54.238186	20	27	GG		KEEP	---	---	---	---	capture	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Missense_Mutation	SNP	153531117	153531117	12401	1	G	A	A	39	39	PKLR	A	1	1
PKLR	5313	broad.mit.edu	36	1	153536678	153536678	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153536678G>A	uc001fkb.2	-	c.118C>T	c.(118-120)CGG>TGG	p.R40W	PKLR_uc001fka.2_Missense_Mutation_p.R9W	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	40			R -> W (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(3)|ovary(1)	4	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)				Pyruvic acid(DB00119)									0.178571	7.15422	9.883274	5	23	GG		KEEP	---	---	---	---	capture	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Missense_Mutation	SNP	153536678	153536678	12401	1	G	A	A	38	38	PKLR	A	1	1
RUSC1	23623	broad.mit.edu	36	1	153559087	153559087	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153559087G>T	uc001fkj.2	+	c.899G>T	c.(898-900)AGA>ATA	p.R300I	C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.R300I|RUSC1_uc009wqn.1_Non-coding_Transcript|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	300						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)													0.467337	231.486931	231.676073	93	106	GG		KEEP	---	---	---	---	capture	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Missense_Mutation	SNP	153559087	153559087	14230	1	G	T	T	33	33	RUSC1	T	3	3
ASH1L	55870	broad.mit.edu	36	1	153582797	153582797	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153582797C>T	uc009wqq.1	-	c.7905_splice	c.e21+1	p.R2635_splice	ASH1L_uc001fkt.1_Splice_Site_SNP_p.R2630_splice	NM_018489	NP_060959			ash1 (absent, small, or homeotic)-like						cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)													0.220077	121.926286	140.625351	57	202	CC		KEEP	---	---	---	---	capture	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		Splice_Site_SNP	SNP	153582797	153582797	1060	1	C	T	T	18	18	ASH1L	T	5	2
ASH1L	55870	broad.mit.edu	36	1	153696300	153696300	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153696300G>T	uc009wqq.1	-	c.4998C>A	c.(4996-4998)ACC>ACA	p.T1666T	ASH1L_uc001fkt.1_Silent_p.T1666T	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like	1666	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)													0.191781	24.492314	30.992018	14	59	GG		KEEP	---	---	---	---	capture	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		Silent	SNP	153696300	153696300	1060	1	G	T	T	35	35	ASH1L	T	3	3
ASH1L	55870	broad.mit.edu	36	1	153714386	153714386	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153714386G>T	uc009wqq.1	-	c.4899C>A	c.(4897-4899)CTC>CTA	p.L1633L	ASH1L_uc001fkt.1_Silent_p.L1633L|ASH1L_uc009wqr.1_Silent_p.L1633L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like	1633	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)													0.216667	97.638525	115.447533	52	188	GG		KEEP	---	---	---	---	capture	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		Silent	SNP	153714386	153714386	1060	1	G	T	T	33	33	ASH1L	T	3	3
ASH1L	55870	broad.mit.edu	36	1	153714537	153714537	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153714537G>A	uc009wqq.1	-	c.4748C>T	c.(4747-4749)TCT>TTT	p.S1583F	ASH1L_uc001fkt.1_Missense_Mutation_p.S1583F|ASH1L_uc009wqr.1_Missense_Mutation_p.S1583F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like	1583	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)													0.426667	183.370397	184.07501	64	86	GG		KEEP	---	---	---	---	capture	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		Missense_Mutation	SNP	153714537	153714537	1060	1	G	A	A	33	33	ASH1L	A	2	2
ASH1L	55870	broad.mit.edu	36	1	153757748	153757748	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153757748C>A	uc009wqq.1	-	c.187G>T	c.(187-189)GAT>TAT	p.D63Y	ASH1L_uc001fkt.1_Missense_Mutation_p.D63Y|ASH1L_uc009wqr.1_Missense_Mutation_p.D63Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like	63					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)													0.166265	214.157586	301.927177	138	692	CC		KEEP	---	---	---	---	capture	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		Missense_Mutation	SNP	153757748	153757748	1060	1	C	A	A	32	32	ASH1L	A	3	3
MSTO1	55154	broad.mit.edu	36	1	153848944	153848944	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153848944C>T	uc001fky.1	+	c.925C>T	c.(925-927)CGA>TGA	p.R309*	MSTO1_uc001fkw.2_Nonsense_Mutation_p.R309*|MSTO1_uc001fkx.2_Nonsense_Mutation_p.R309*|MSTO1_uc001fld.2_Nonsense_Mutation_p.R131*|MSTO1_uc001fkz.1_Nonsense_Mutation_p.R240*|MSTO1_uc009wqs.1_Nonsense_Mutation_p.R188*|MSTO1_uc001fla.1_Nonsense_Mutation_p.R128*|MSTO1_uc001flb.1_Nonsense_Mutation_p.R178*|MSTO1_uc001flc.2_Nonsense_Mutation_p.R131*	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN	misato	309					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex					0	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)													0.413265	209.428067	210.715422	81	115	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	153848944	153848944	10287	1	C	T	T	27	27	MSTO1	T	5	1
YY1AP1	55249	broad.mit.edu	36	1	153897298	153897298	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153897298G>A	uc001flh.1	-	c.1381C>T	c.(1381-1383)CGG>TGG	p.R461W	YY1AP1_uc001flg.1_Missense_Mutation_p.R128W|YY1AP1_uc009wqt.1_Missense_Mutation_p.R312W|YY1AP1_uc009wqu.1_Missense_Mutation_p.R176W|YY1AP1_uc001fll.1_Missense_Mutation_p.R343W|YY1AP1_uc009wqv.1_Missense_Mutation_p.R60W|YY1AP1_uc001flm.1_Missense_Mutation_p.R332W|YY1AP1_uc001fli.1_Missense_Mutation_p.R343W|YY1AP1_uc009wqw.1_Missense_Mutation_p.R312W|YY1AP1_uc001flj.1_Missense_Mutation_p.R323W|YY1AP1_uc001flk.1_Missense_Mutation_p.R332W|YY1AP1_uc001flo.1_Missense_Mutation_p.R277W|YY1AP1_uc001flp.1_Missense_Mutation_p.R343W|YY1AP1_uc001fln.1_Missense_Mutation_p.R389W	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	389					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)													0.240437	96.200573	107.460462	44	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153897298	153897298	18091	1	G	A	A	38	38	YY1AP1	A	1	1
YY1AP1	55249	broad.mit.edu	36	1	153915847	153915847	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153915847G>T	uc001flh.1	-	c.516C>A	c.(514-516)AAC>AAA	p.N172K	YY1AP1_uc009wqt.1_Missense_Mutation_p.N23K|YY1AP1_uc009wqu.1_5'UTR|YY1AP1_uc001fll.1_Missense_Mutation_p.N34K|YY1AP1_uc009wqv.1_5'UTR|YY1AP1_uc001flm.1_Missense_Mutation_p.N23K|YY1AP1_uc001fli.1_Missense_Mutation_p.N34K|YY1AP1_uc009wqw.1_Missense_Mutation_p.N23K|YY1AP1_uc001flj.1_Missense_Mutation_p.N34K|YY1AP1_uc001flk.1_Missense_Mutation_p.N23K|YY1AP1_uc001flo.1_5'UTR|YY1AP1_uc001flp.1_Missense_Mutation_p.N34K|YY1AP1_uc001fln.1_Missense_Mutation_p.N100K|YY1AP1_uc009wqx.1_Missense_Mutation_p.N172K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	100					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)													0.230366	93.584834	106.328947	44	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153915847	153915847	18091	1	G	T	T	36	36	YY1AP1	T	3	3
GON4L	54856	broad.mit.edu	36	1	153988201	153988201	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153988201C>A	uc001flz.2	-	c.6557G>T	c.(6556-6558)GGA>GTA	p.G2186V	GON4L_uc001fly.1_Missense_Mutation_p.G2185V|GON4L_uc009wrh.1_Missense_Mutation_p.G2185V|GON4L_uc001fma.1_Missense_Mutation_p.G2186V|GON4L_uc001flx.1_Missense_Mutation_p.G20V|GON4L_uc009wrg.1_Non-coding_Transcript	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	2186	Myb-like.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.439394	77.259537	77.471659	29	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153988201	153988201	6845	1	C	A	A	30	30	GON4L	A	3	3
GON4L	54856	broad.mit.edu	36	1	153988585	153988585	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153988585C>A	uc001flz.2	-	c.6263G>T	c.(6262-6264)AGA>ATA	p.R2088I	GON4L_uc001fly.1_Missense_Mutation_p.R2087I|GON4L_uc009wrh.1_Missense_Mutation_p.R2087I|GON4L_uc001fma.1_Missense_Mutation_p.R2088I|GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_Non-coding_Transcript	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	2088					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.191964	76.277896	96.15267	43	181	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153988585	153988585	6845	1	C	A	A	32	32	GON4L	A	3	3
GON4L	54856	broad.mit.edu	36	1	154001733	154001733	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154001733C>T	uc001flz.2	-	c.4155G>A	c.(4153-4155)CAG>CAA	p.Q1385Q	GON4L_uc001fly.1_Silent_p.Q1385Q|GON4L_uc009wrh.1_Silent_p.Q1385Q|GON4L_uc001fma.1_Silent_p.Q1385Q|GON4L_uc001fmb.2_Silent_p.Q581Q|GON4L_uc001fmc.1_Silent_p.Q1385Q|GON4L_uc001fmd.2_Silent_p.Q1385Q|GON4L_uc009wri.1_Silent_p.Q971Q|GON4L_uc009wrg.1_Non-coding_Transcript	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1385					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.212903	133.981197	157.599407	66	244	CC		KEEP	---	---	---	---	capture			Silent	SNP	154001733	154001733	6845	1	C	T	T	28	28	GON4L	T	2	2
GON4L	54856	broad.mit.edu	36	1	154041528	154041528	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154041528C>T	uc001flz.2	-	c.1481G>A	c.(1480-1482)CGA>CAA	p.R494Q	GON4L_uc001fly.1_Missense_Mutation_p.R494Q|GON4L_uc009wrh.1_Missense_Mutation_p.R494Q|GON4L_uc001fma.1_Missense_Mutation_p.R494Q|GON4L_uc001fmc.1_Missense_Mutation_p.R494Q|GON4L_uc001fmd.2_Missense_Mutation_p.R494Q|GON4L_uc009wri.1_Missense_Mutation_p.R80Q|GON4L_uc009wrj.1_Missense_Mutation_p.R9Q|GON4L_uc001fme.2_Missense_Mutation_p.R322Q|GON4L_uc001fmf.2_Missense_Mutation_p.R188Q	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	494					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.218605	100.915558	116.601771	47	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154041528	154041528	6845	1	C	T	T	31	31	GON4L	T	1	1
GON4L	54856	broad.mit.edu	36	1	154089950	154089950	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154089950C>A	uc001flz.2	-	c.246G>T	c.(244-246)ATG>ATT	p.M82I	GON4L_uc001fly.1_Missense_Mutation_p.M82I|GON4L_uc009wrh.1_Missense_Mutation_p.M82I|GON4L_uc001fma.1_Missense_Mutation_p.M82I|GON4L_uc001fmc.1_Missense_Mutation_p.M82I|GON4L_uc001fmd.2_Missense_Mutation_p.M82I|GON4L_uc009wri.1_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	82					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.186441	124.583352	157.187411	66	288	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154089950	154089950	6845	1	C	A	A	25	25	GON4L	A	3	3
GON4L	54856	broad.mit.edu	36	1	154090120	154090120	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154090120C>T	uc001flz.2	-	c.76G>A	c.(76-78)GTA>ATA	p.V26I	GON4L_uc001fly.1_Missense_Mutation_p.V26I|GON4L_uc009wrh.1_Missense_Mutation_p.V26I|GON4L_uc001fma.1_Missense_Mutation_p.V26I|GON4L_uc001fmc.1_Missense_Mutation_p.V26I|GON4L_uc001fmd.2_Missense_Mutation_p.V26I|GON4L_uc009wri.1_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	26					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.255319	108.010803	118.22409	48	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154090120	154090120	6845	1	C	T	T	19	19	GON4L	T	1	1
SYT11	23208	broad.mit.edu	36	1	154104950	154104950	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154104950T>C	uc001fmg.1	+	c.605T>C	c.(604-606)ATC>ACC	p.I202T		NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	202	Cytoplasmic (Potential).|C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.413953	280.848927	282.234779	89	126	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		Missense_Mutation	SNP	154104950	154104950	15988	1	T	C	C	50	50	SYT11	C	4	4
SYT11	23208	broad.mit.edu	36	1	154116973	154116973	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154116973G>T	uc001fmg.1	+	c.920G>T	c.(919-921)AGA>ATA	p.R307I		NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	307	C2 2.|Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.28022	116.722869	124.64471	51	131	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		Missense_Mutation	SNP	154116973	154116973	15988	1	G	T	T	33	33	SYT11	T	3	3
TMEM51	55092	broad.mit.edu	36	1	15414320	15414320	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15414320G>T	uc001avw.2	+	c.150G>T	c.(148-150)AAG>AAT	p.K50N	TMEM51_uc001avx.1_Missense_Mutation_p.K50N|TMEM51_uc001avz.2_Missense_Mutation_p.K50N|TMEM51_uc001avy.1_Missense_Mutation_p.K50N	NM_018022	NP_060492	Q9NW97	TMM51_HUMAN	transmembrane protein 51	50						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)												0.391167	304.045749	307.357314	124	193	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	Missense_Mutation	SNP	15414320	15414320	16716	1	G	T	T	33	33	TMEM51	T	3	3
ARHGEF2	9181	broad.mit.edu	36	1	154202176	154202176	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154202176C>T	uc001fmu.1	-	c.476_splice	c.e9-1	p.T159_splice	ARHGEF2_uc001fmr.1_Splice_Site_SNP_p.T87_splice|ARHGEF2_uc001fms.1_Splice_Site_SNP_p.T114_splice|ARHGEF2_uc001fmt.1_Splice_Site_SNP_p.T114_splice	NM_004723	NP_004714			rho/rac guanine nucleotide exchange factor 2						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)					Melanoma(178;35 2768 6610 28839)								0.488372	127.130941	127.141458	42	44	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	154202176	154202176	917	1	C	T	T	28	28	ARHGEF2	T	5	2
SSR2	6746	broad.mit.edu	36	1	154246018	154246018	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154246018G>A	uc001fmx.1	-	c.489C>T	c.(487-489)ATC>ATT	p.I163I	SSR2_uc001fmv.1_Non-coding_Transcript|SSR2_uc001fmw.1_Non-coding_Transcript|SSR2_uc001fmy.1_Non-coding_Transcript|SSR2_uc009wrm.1_3'UTR	NM_003145	NP_003136	P43308	SSRB_HUMAN	signal sequence receptor, beta precursor	163	Helical; (Potential).				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.452381	329.897061	330.39729	114	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	154246018	154246018	15707	1	G	A	A	41	41	SSR2	A	2	2
MEX3A	92312	broad.mit.edu	36	1	154312995	154312995	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154312995G>T	uc001fnd.2	-	c.1557C>A	c.(1555-1557)TTC>TTA	p.F519L		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	519						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)													0.134831	13.732881	25.248049	12	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154312995	154312995	9899	1	G	T	T	33	33	MEX3A	T	3	3
SLC25A44	9673	broad.mit.edu	36	1	154446815	154446815	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154446815G>A	uc009wrr.1	+	c.938G>A	c.(937-939)CGA>CAA	p.R313Q	SLC25A44_uc001fnp.1_Missense_Mutation_p.R305Q|SLC25A44_uc009wrs.1_3'UTR|SLC25A44_uc009wrt.1_Missense_Mutation_p.R92Q|PMF1_uc009wru.1_5'Flank|PMF1_uc001fnq.1_5'Flank|PMF1_uc001fnr.1_5'Flank|BGLAP_uc001fns.1_5'Flank	NM_014655	NP_055470	Q96H78	S2544_HUMAN	solute carrier family 25, member 44 isoform 1	305					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	Hepatocellular(266;0.158)													0.24	50.7575	56.925257	24	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154446815	154446815	15006	1	G	A	A	37	37	SLC25A44	A	1	1
TMEM79	84283	broad.mit.edu	36	1	154522363	154522363	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154522363G>A	uc001foe.1	+	c.722G>A	c.(721-723)CGC>CAC	p.R241H	TMEM79_uc001fod.1_Missense_Mutation_p.R82H|TMEM79_uc009wrw.1_Missense_Mutation_p.R241H	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	241						integral to membrane					0	Hepatocellular(266;0.158)													0.160839	101.556628	148.502988	69	360	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154522363	154522363	16742	1	G	A	A	38	38	TMEM79	A	1	1
C1orf85	112770	broad.mit.edu	36	1	154529786	154529786	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154529786G>A	uc001foh.1	-	c.1004C>T	c.(1003-1005)ACG>ATG	p.T335M	C1orf85_uc001fof.2_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.1_Missense_Mutation_p.T286M|C1orf85_uc009wrx.1_Missense_Mutation_p.T268M|C1orf85_uc001foj.1_Missense_Mutation_p.T249M	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1	335	Lumenal (Potential).					integral to membrane|lysosomal membrane				ovary(2)	2	Hepatocellular(266;0.158)													0.512821	223.975702	223.997422	80	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154529786	154529786	2138	1	G	A	A	40	40	C1orf85	A	1	1
C1orf85	112770	broad.mit.edu	36	1	154530462	154530462	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154530462C>T	uc001foh.1	-	c.769G>A	c.(769-771)GAC>AAC	p.D257N	C1orf85_uc001fof.2_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.1_Missense_Mutation_p.D257N|C1orf85_uc009wrx.1_Missense_Mutation_p.D190N|C1orf85_uc001foj.1_Missense_Mutation_p.D171N	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1	257	Lumenal (Potential).					integral to membrane|lysosomal membrane				ovary(2)	2	Hepatocellular(266;0.158)													0.183246	130.21606	166.204958	70	312	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154530462	154530462	2138	1	C	T	T	31	31	C1orf85	T	1	1
C1orf61	10485	broad.mit.edu	36	1	154643524	154643524	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154643524G>A	uc001fou.1	-	c.395C>T	c.(394-396)GCT>GTT	p.A132V	C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001fot.1_3'UTR	NM_006365	NP_006356	Q13536	CROC4_HUMAN	transcriptional activator of the c-fos promoter	132						nucleus					0	Hepatocellular(266;0.158)													0.478261	181.42532	181.482835	66	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154643524	154643524	2126	1	G	A	A	34	34	C1orf61	A	2	2
MEF2D	4209	broad.mit.edu	36	1	154705374	154705374	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154705374A>G	uc001fpc.1	-	c.1069T>C	c.(1069-1071)TCG>CCG	p.S357P	MEF2D_uc001fpb.1_Missense_Mutation_p.S350P|MEF2D_uc001fpd.1_Missense_Mutation_p.S350P|MEF2D_uc009wsa.1_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.S357P	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	357					apoptosis|muscle organ development|nervous system development|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.218391	44.678549	51.040154	19	68	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154705374	154705374	9847	1	A	G	G	10	10	MEF2D	G	4	4
IQGAP3	128239	broad.mit.edu	36	1	154780591	154780591	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154780591G>A	uc001fpf.1	-	c.2437C>T	c.(2437-2439)CGT>TGT	p.R813C		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	813	IQ 3.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)	5	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.383041	340.430004	344.5348	131	211	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154780591	154780591	8119	1	G	A	A	38	38	IQGAP3	A	1	1
IQGAP3	128239	broad.mit.edu	36	1	154784554	154784554	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154784554G>A	uc001fpf.1	-	c.2239C>T	c.(2239-2241)CGG>TGG	p.R747W		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	747	IQ 1.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)	5	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.125	9.825571	19.719028	9	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154784554	154784554	8119	1	G	A	A	37	37	IQGAP3	A	1	1
BCAN	63827	broad.mit.edu	36	1	154894644	154894644	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154894644G>A	uc001fpp.1	+	c.2394G>A	c.(2392-2394)GTG>GTA	p.V798V		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	798	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.222222	67.115045	78.621341	36	126	GG		KEEP	---	---	---	---	capture			Silent	SNP	154894644	154894644	1366	1	G	A	A	46	46	BCAN	A	2	2
BCAN	63827	broad.mit.edu	36	1	154895511	154895511	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154895511G>A	uc001fpp.1	+	c.2697G>A	c.(2695-2697)GCG>GCA	p.A899A		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	899					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.357143	11.167859	11.420815	5	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	154895511	154895511	1366	1	G	A	A	38	38	BCAN	A	1	1
NES	10763	broad.mit.edu	36	1	154906788	154906788	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154906788G>A	uc001fpq.1	-	c.3816C>T	c.(3814-3816)CCC>CCT	p.P1272P		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1272	Tail.				brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.207317	143.172127	169.172225	68	260	GG		KEEP	---	---	---	---	capture			Silent	SNP	154906788	154906788	10736	1	G	A	A	39	39	NES	A	1	1
NES	10763	broad.mit.edu	36	1	154908443	154908443	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154908443G>A	uc001fpq.1	-	c.2161C>T	c.(2161-2163)CCA>TCA	p.P721S		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	721	Tail.				brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.212885	153.588955	180.803333	76	281	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154908443	154908443	10736	1	G	A	A	42	42	NES	A	2	2
NES	10763	broad.mit.edu	36	1	154908565	154908565	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154908565G>T	uc001fpq.1	-	c.2039C>A	c.(2038-2040)TCT>TAT	p.S680Y		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	680	Tail.				brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.171053	42.643302	58.210591	26	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154908565	154908565	10736	1	G	T	T	33	33	NES	T	3	3
MIB2	142678	broad.mit.edu	36	1	1549159	1549159	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1549159C>T	uc001agg.1	+	c.564C>T	c.(562-564)TTC>TTT	p.F188F	MIB2_uc001agh.1_Silent_p.F174F|MIB2_uc001agi.1_Silent_p.F188F|MIB2_uc001agj.1_Silent_p.F29F|MIB2_uc001agk.1_Silent_p.F188F|MIB2_uc001agl.1_Silent_p.F144F|MIB2_uc001agm.1_Silent_p.F130F|MIB2_uc009vkh.1_Silent_p.F29F|MIB2_uc001agn.1_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	188	ZZ-type.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)												0.54902	79.389882	79.495322	28	23	CC		KEEP	---	---	---	---	capture		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Silent	SNP	1549159	1549159	9957	1	C	T	T	31	31	MIB2	T	1	1
C1orf66	51093	broad.mit.edu	36	1	154970531	154970531	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154970531G>A	uc001fpu.1	+	c.743G>A	c.(742-744)GGC>GAC	p.G248D	C1orf66_uc001fpv.1_Intron	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	248						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.465409	206.239851	206.404186	74	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154970531	154970531	2130	1	G	A	A	42	42	C1orf66	A	2	2
SH2D2A	9047	broad.mit.edu	36	1	155045865	155045865	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155045865T>C	uc009wsh.1	-	c.786A>G	c.(784-786)AAA>AAG	p.K262K	SH2D2A_uc001fqc.1_Silent_p.K224K|SH2D2A_uc001fqd.1_Silent_p.K252K|SH2D2A_uc001fqe.1_Silent_p.K234K	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A	252	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									2				0.211864	130.979515	149.057242	50	186	TT		KEEP	---	---	---	---	capture			Silent	SNP	155045865	155045865	14723	1	T	C	C	60	60	SH2D2A	C	4	4
INSRR	3645	broad.mit.edu	36	1	155077848	155077848	+	Silent	SNP	G	A	A	rs67897406	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155077848G>A	uc001fqg.1	-	c.3624C>T	c.(3622-3624)GGC>GGT	p.G1208G	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1208	Cytoplasmic (Potential).|Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(7)|ovary(4)|kidney(1)|central_nervous_system(1)|skin(1)	14	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)								p.G1208G(CMLT1-Tumor)	299				0.426901	188.538866	189.334625	73	98	GG		KEEP	---	---	---	---	capture			Silent	SNP	155077848	155077848	8075	1	G	A	A	38	38	INSRR	A	1	1
INSRR	3645	broad.mit.edu	36	1	155088109	155088109	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155088109C>T	uc001fqg.1	-	c.1037G>A	c.(1036-1038)GGC>GAC	p.G346D	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.G346D	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	346					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(7)|ovary(4)|kidney(1)|central_nervous_system(1)|skin(1)	14	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									299				0.205882	27.528959	32.973522	14	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155088109	155088109	8075	1	C	T	T	26	26	INSRR	T	2	2
PEAR1	375033	broad.mit.edu	36	1	155140360	155140360	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155140360T>C	uc001fqj.1	+	c.18T>C	c.(16-18)TGT>TGC	p.C6C	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	6						integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.348123	304.535854	310.51132	102	191	TT		KEEP	---	---	---	---	capture			Silent	SNP	155140360	155140360	12133	1	T	C	C	58	58	PEAR1	C	4	4
PEAR1	375033	broad.mit.edu	36	1	155141205	155141205	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155141205G>A	uc001fqj.1	+	c.143G>A	c.(142-144)AGC>AAC	p.S48N	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	48	EMI.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.462963	292.26198	292.52142	100	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155141205	155141205	12133	1	G	A	A	34	34	PEAR1	A	2	2
PEAR1	375033	broad.mit.edu	36	1	155146794	155146794	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155146794G>A	uc001fqj.1	+	c.1823G>A	c.(1822-1824)AGA>AAA	p.R608K	PEAR1_uc001fqk.1_Missense_Mutation_p.R233K	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	608						integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.190164	108.653436	136.055461	58	247	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155146794	155146794	12133	1	G	A	A	33	33	PEAR1	A	2	2
C1orf92	149499	broad.mit.edu	36	1	155168343	155168343	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155168343G>T	uc001fqm.2	+	c.1341G>T	c.(1339-1341)GAG>GAT	p.E447D	C1orf92_uc001fql.2_Missense_Mutation_p.E233D	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	447											0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.263158	10.363315	11.329942	5	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155168343	155168343	2145	1	G	T	T	35	35	C1orf92	T	3	3
ETV3L	440695	broad.mit.edu	36	1	155335150	155335150	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155335150G>A	uc001fqq.1	-	c.458C>T	c.(457-459)GCG>GTG	p.A153V		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	153					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Hepatocellular(266;0.158)	Prostate(1639;0.184)												0.256198	68.073857	74.596513	31	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155335150	155335150	5473	1	G	A	A	38	38	ETV3L	A	1	1
FCRL3	115352	broad.mit.edu	36	1	155936123	155936123	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155936123G>T	uc001fqz.2	-	c.35C>A	c.(34-36)CCT>CAT	p.P12H	FCRL3_uc001fqx.2_Non-coding_Transcript|FCRL3_uc001fqy.2_Non-coding_Transcript|FCRL3_uc009wsn.1_Non-coding_Transcript|FCRL3_uc009wso.1_Non-coding_Transcript|FCRL3_uc001fra.1_5'Flank|FCRL3_uc001frb.1_Missense_Mutation_p.P12H|FCRL3_uc001frc.1_Missense_Mutation_p.P12H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	12						integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.35	55.152856	56.345762	21	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155936123	155936123	6033	1	G	T	T	35	35	FCRL3	T	3	3
FCRL2	79368	broad.mit.edu	36	1	156006446	156006446	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156006446G>T	uc001fre.1	-	c.429C>A	c.(427-429)TTC>TTA	p.F143L	FCRL2_uc001frd.1_5'Flank|FCRL2_uc009wsp.1_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 isoform b	143	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)													0.426573	159.228302	159.904452	61	82	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.24)		Missense_Mutation	SNP	156006446	156006446	6032	1	G	T	T	33	33	FCRL2	T	3	3
FCRL1	115350	broad.mit.edu	36	1	156040455	156040455	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156040455G>A	uc001frg.1	-	c.123C>T	c.(121-123)CCC>CCT	p.P41P	FCRL1_uc001frf.1_5'Flank|FCRL1_uc001frh.1_Silent_p.P41P|FCRL1_uc001fri.1_Silent_p.P41P|FCRL1_uc001frj.1_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	41	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			ovary(3)	3	all_hematologic(112;0.0378)					GBM(54;482 1003 11223 30131 35730)								0.175097	94.723312	120.307369	45	212	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.24)		Silent	SNP	156040455	156040455	6031	1	G	A	A	35	35	FCRL1	A	2	2
KIRREL	55243	broad.mit.edu	36	1	156324475	156324475	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156324475A>C	uc001frn.2	+	c.823A>C	c.(823-825)AAT>CAT	p.N275H	KIRREL_uc009wsq.1_Missense_Mutation_p.N111H|KIRREL_uc001fro.2_Missense_Mutation_p.N73H	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like	275	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.214925	183.529746	208.650253	72	263	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156324475	156324475	8636	1	A	C	C	1	1	KIRREL	C	4	4
CD1E	913	broad.mit.edu	36	1	156593225	156593225	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156593225G>A	uc001fse.1	+	c.1082G>A	c.(1081-1083)AGA>AAA	p.R361K	CD1E_uc001fsd.1_3'UTR|CD1E_uc001frz.1_Missense_Mutation_p.R259K|CD1E_uc009wsv.1_Missense_Mutation_p.R262K|CD1E_uc001fsa.1_Missense_Mutation_p.R117K|CD1E_uc001fsb.1_Missense_Mutation_p.R105K|CD1E_uc001fsc.1_Missense_Mutation_p.R172K|CD1E_uc001fry.1_Missense_Mutation_p.R294K|CD1E_uc001fsf.1_Missense_Mutation_p.R349K|CD1E_uc001fsg.1_3'UTR|CD1E_uc001fsh.1_Missense_Mutation_p.R160K|CD1E_uc001fsi.1_3'UTR|CD1E_uc001fsj.1_Missense_Mutation_p.R204K|CD1E_uc001fsk.1_Missense_Mutation_p.R271K|CD1E_uc009wsw.1_Missense_Mutation_p.D76N	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	361					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen					0	all_hematologic(112;0.0378)													0.233716	145.131576	162.076702	61	200	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156593225	156593225	3105	1	G	A	A	33	33	CD1E	A	2	2
OR10T2	128360	broad.mit.edu	36	1	156635778	156635778	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156635778G>A	uc001fsl.1	-	c.103C>T	c.(103-105)CTA>TTA	p.L35L		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.288288	87.552563	92.014666	32	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	156635778	156635778	11325	1	G	A	A	35	35	OR10T2	A	2	2
OR10R2	343406	broad.mit.edu	36	1	156717213	156717213	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156717213A>G	uc001fsp.1	+	c.922A>G	c.(922-924)ATG>GTG	p.M308V		NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	308	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)	2	all_hematologic(112;0.0378)													0.349593	125.893162	128.34583	43	80	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156717213	156717213	11323	1	A	G	G	8	8	OR10R2	G	4	4
OR10X1	128367	broad.mit.edu	36	1	156815826	156815826	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156815826G>T	uc001fsr.1	-	c.488C>A	c.(487-489)TCT>TAT	p.S163Y		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	163	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.188679	31.216478	40.861486	20	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156815826	156815826	11328	1	G	T	T	33	33	OR10X1	T	3	3
CELA2B	51032	broad.mit.edu	36	1	15682407	15682407	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15682407G>A	uc001awl.1	+	c.418G>A	c.(418-420)GCC>ACC	p.A140T		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	140	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1														0.227273	61.274546	70.225719	30	102	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15682407	15682407	3345	1	G	A	A	42	42	CELA2B	A	2	2
OR10Z1	128368	broad.mit.edu	36	1	156843515	156843515	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156843515C>A	uc001fss.1	+	c.663C>A	c.(661-663)ATC>ATA	p.I221I		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.190024	140.813374	178.689655	80	341	CC		KEEP	---	---	---	---	capture			Silent	SNP	156843515	156843515	11329	1	C	A	A	32	32	OR10Z1	A	3	3
SPTA1	6708	broad.mit.edu	36	1	156859465	156859465	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156859465C>T	uc001fst.1	-	c.6052G>A	c.(6052-6054)GAA>AAA	p.E2018K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2018	Spectrin 19.				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)|breast(1)	5	all_hematologic(112;0.0378)													0.224793	297.514672	339.607387	136	469	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156859465	156859465	15630	1	C	T	T	30	30	SPTA1	T	2	2
SPTA1	6708	broad.mit.edu	36	1	156889024	156889024	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156889024G>T	uc001fst.1	-	c.3232C>A	c.(3232-3234)CTA>ATA	p.L1078I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1078					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)|breast(1)	5	all_hematologic(112;0.0378)													0.390625	191.152234	193.172735	75	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156889024	156889024	15630	1	G	T	T	33	33	SPTA1	T	3	3
SPTA1	6708	broad.mit.edu	36	1	156894025	156894025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156894025G>A	uc001fst.1	-	c.2671C>T	c.(2671-2673)CGA>TGA	p.R891*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891	Spectrin 9.				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)|breast(1)	5	all_hematologic(112;0.0378)													0.197007	142.136517	176.416574	79	322	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	156894025	156894025	15630	1	G	A	A	38	38	SPTA1	A	5	1
SPTA1	6708	broad.mit.edu	36	1	156899216	156899216	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156899216C>T	uc001fst.1	-	c.2364G>A	c.(2362-2364)AAG>AAA	p.K788K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	788	Spectrin 8.				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)|breast(1)	5	all_hematologic(112;0.0378)													0.42236	197.865369	198.713776	68	93	CC		KEEP	---	---	---	---	capture			Silent	SNP	156899216	156899216	15630	1	C	T	T	28	28	SPTA1	T	2	2
SPTA1	6708	broad.mit.edu	36	1	156911056	156911056	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156911056G>T	uc001fst.1	-	c.1146C>A	c.(1144-1146)CTC>CTA	p.L382L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	382	Spectrin 5.				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)|breast(1)	5	all_hematologic(112;0.0378)													0.202985	128.980469	156.458869	68	267	GG		KEEP	---	---	---	---	capture			Silent	SNP	156911056	156911056	15630	1	G	T	T	33	33	SPTA1	T	3	3
OR6K3	391114	broad.mit.edu	36	1	156954001	156954001	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156954001T>G	uc001fsv.1	-	c.577A>C	c.(577-579)ATC>CTC	p.I193L		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.209821	119.00248	136.464036	47	177	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156954001	156954001	11613	1	T	G	G	50	50	OR6K3	G	4	4
OR6N1	128372	broad.mit.edu	36	1	157002788	157002788	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157002788G>A	uc001fsx.1	-	c.309C>T	c.(307-309)TTC>TTT	p.F103F		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.34507	139.328576	142.340141	49	93	GG		KEEP	---	---	---	---	capture			Silent	SNP	157002788	157002788	11616	1	G	A	A	33	33	OR6N1	A	2	2
PYHIN1	149628	broad.mit.edu	36	1	157174829	157174829	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157174829C>T	uc001ftb.1	+	c.284C>T	c.(283-285)TCC>TTC	p.S95F	PYHIN1_uc001fta.2_Missense_Mutation_p.S95F|PYHIN1_uc001ftc.1_Intron|PYHIN1_uc001ftd.1_Missense_Mutation_p.S95F|PYHIN1_uc001fte.1_Intron	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	95					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.178744	70.960594	91.060993	37	170	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157174829	157174829	13323	1	C	T	T	30	30	PYHIN1	T	2	2
PYHIN1	149628	broad.mit.edu	36	1	157178461	157178461	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157178461C>T	uc001ftb.1	+	c.650C>T	c.(649-651)GCG>GTG	p.A217V	PYHIN1_uc001ftc.1_Missense_Mutation_p.A208V|PYHIN1_uc001ftd.1_Missense_Mutation_p.A217V|PYHIN1_uc001fte.1_Missense_Mutation_p.A208V	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	217	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.173913	34.127735	45.674515	20	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157178461	157178461	13323	1	C	T	T	27	27	PYHIN1	T	1	1
PYHIN1	149628	broad.mit.edu	36	1	157178571	157178571	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157178571G>A	uc001ftb.1	+	c.760G>A	c.(760-762)GTT>ATT	p.V254I	PYHIN1_uc001ftc.1_Missense_Mutation_p.V245I|PYHIN1_uc001ftd.1_Missense_Mutation_p.V254I|PYHIN1_uc001fte.1_Missense_Mutation_p.V245I	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	254	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.169811	29.582018	40.525069	18	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157178571	157178571	13323	1	G	A	A	44	44	PYHIN1	A	2	2
APCS	325	broad.mit.edu	36	1	157824762	157824762	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157824762C>T	uc001ftv.1	+	c.312C>T	c.(310-312)ATC>ATT	p.I104I		NM_001639	NP_001630	P02743	SAMP_HUMAN	serum amyloid P component precursor	104	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			ovary(1)|breast(1)	2	all_hematologic(112;0.0429)													0.27673	106.03202	113.166742	44	115	CC		KEEP	---	---	---	---	capture			Silent	SNP	157824762	157824762	777	1	C	T	T	31	31	APCS	T	1	1
APCS	325	broad.mit.edu	36	1	157824922	157824922	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157824922T>A	uc001ftv.1	+	c.472T>A	c.(472-474)TCC>ACC	p.S158T		NM_001639	NP_001630	P02743	SAMP_HUMAN	serum amyloid P component precursor	158	Pentaxin.		S -> G.		acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			ovary(1)|breast(1)	2	all_hematologic(112;0.0429)													0.234694	43.874665	50.189777	23	75	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157824922	157824922	777	1	T	A	A	62	62	APCS	A	4	4
CRP	1401	broad.mit.edu	36	1	157950894	157950894	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157950894C>A	uc001ftw.1	-	c.6G>T	c.(4-6)GAG>GAT	p.E2D	CRP_uc001ftx.1_Missense_Mutation_p.E2D|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	2					acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)				p.E2E(SNU81-Tumor)	63				0.337662	62.116776	63.916006	26	51	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157950894	157950894	4034	1	C	A	A	32	32	CRP	A	3	3
FCRL6	343413	broad.mit.edu	36	1	158046511	158046511	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158046511C>T	uc001fud.2	+	c.890C>T	c.(889-891)TCT>TTT	p.S297F	FCRL6_uc001fuc.1_Missense_Mutation_p.S304F|FCRL6_uc009wsz.1_Missense_Mutation_p.S202F|FCRL6_uc009wta.1_Missense_Mutation_p.S297F	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	297	Extracellular (Potential).					integral to membrane				ovary(2)	2	all_hematologic(112;0.0597)													0.208723	142.739968	167.966291	67	254	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	158046511	158046511	6036	1	C	T	T	32	32	FCRL6	T	2	2
VSIG8	391123	broad.mit.edu	36	1	158094504	158094504	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158094504C>A	uc001fuh.1	-	c.430G>T	c.(430-432)GCA>TCA	p.A144S	C1orf204_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	144	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1	all_hematologic(112;0.0597)													0.216667	53.38097	62.271651	26	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	158094504	158094504	17794	1	C	A	A	24	24	VSIG8	A	3	3
CCDC19	25790	broad.mit.edu	36	1	158113090	158113090	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158113090C>T	uc001fui.1	-	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	CCDC19_uc009wtb.1_Non-coding_Transcript|CCDC19_uc001fuj.1_Non-coding_Transcript|CCDC19_uc001fuk.1_Missense_Mutation_p.R326Q|CCDC19_uc001ful.1_Missense_Mutation_p.R326Q|CCDC19_uc009wtc.1_Silent_p.A410A	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	411	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)													0.153846	27.934176	39.848821	16	88	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.151)		Missense_Mutation	SNP	158113090	158113090	2917	1	C	T	T	23	23	CCDC19	T	1	1
CCDC19	25790	broad.mit.edu	36	1	158113164	158113164	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158113164C>A	uc001fui.1	-	c.1159_splice	c.e10-1	p.D387_splice	CCDC19_uc009wtb.1_Non-coding_Transcript|CCDC19_uc001fuj.1_Non-coding_Transcript|CCDC19_uc001fuk.1_Splice_Site_SNP_p.D302_splice|CCDC19_uc001ful.1_Splice_Site_SNP_p.D302_splice|CCDC19_uc009wtc.1_Nonsense_Mutation_p.G386*	NM_012337	NP_036469			nasopharyngeal epithelium specific protein 1							mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)													0.152941	18.712389	28.517826	13	72	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.151)		Splice_Site_SNP	SNP	158113164	158113164	2917	1	C	A	A	24	24	CCDC19	A	5	3
IGSF9	57549	broad.mit.edu	36	1	158163832	158163832	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158163832C>T	uc001fur.1	-	c.3467G>A	c.(3466-3468)CGA>CAA	p.R1156Q	CCDC19_uc001ful.1_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|IGSF9_uc001fup.1_Missense_Mutation_p.R302Q|IGSF9_uc001fuq.1_Missense_Mutation_p.R1140Q	NM_020789	NP_065840	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform b	1156	Cytoplasmic (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)												0.427027	216.394069	217.252599	79	106	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Missense_Mutation	SNP	158163832	158163832	7906	1	C	T	T	31	31	IGSF9	T	1	1
IGSF9	57549	broad.mit.edu	36	1	158164197	158164197	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158164197C>A	uc001fur.1	-	c.3335G>T	c.(3334-3336)AGA>ATA	p.R1112I	CCDC19_uc001ful.1_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|IGSF9_uc001fup.1_Missense_Mutation_p.R258I|IGSF9_uc001fuq.1_Missense_Mutation_p.R1096I	NM_020789	NP_065840	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform b	1112	Cytoplasmic (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)												0.18593	64.544427	82.959192	37	162	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Missense_Mutation	SNP	158164197	158164197	7906	1	C	A	A	32	32	IGSF9	A	3	3
IGSF9	57549	broad.mit.edu	36	1	158166611	158166611	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158166611G>A	uc001fur.1	-	c.2056C>T	c.(2056-2058)CTC>TTC	p.L686F	IGSF9_uc001fup.1_5'UTR|IGSF9_uc001fuq.1_Missense_Mutation_p.L670F	NM_020789	NP_065840	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform b	686	Fibronectin type-III 2.|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)												0.268041	206.41046	220.555186	78	213	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Missense_Mutation	SNP	158166611	158166611	7906	1	G	A	A	35	35	IGSF9	A	2	2
IGSF9	57549	broad.mit.edu	36	1	158168309	158168309	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158168309C>A	uc001fur.1	-	c.1279G>T	c.(1279-1281)GAA>TAA	p.E427*	IGSF9_uc001fup.1_5'UTR|IGSF9_uc001fuq.1_Nonsense_Mutation_p.E411*	NM_020789	NP_065840	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform b	427	Ig-like 5.|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)												0.170732	40.673666	57.531802	28	136	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Nonsense_Mutation	SNP	158168309	158168309	7906	1	C	A	A	32	32	IGSF9	A	5	3
IGSF9	57549	broad.mit.edu	36	1	158171121	158171121	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158171121C>A	uc001fur.1	-	c.789G>T	c.(787-789)CAG>CAT	p.Q263H	IGSF9_uc001fup.1_5'Flank|IGSF9_uc001fuq.1_Missense_Mutation_p.Q263H	NM_020789	NP_065840	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform b	263	Ig-like 3.|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)												0.230769	69.698872	79.201922	33	110	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Missense_Mutation	SNP	158171121	158171121	7906	1	C	A	A	24	24	IGSF9	A	3	3
KCNJ10	3766	broad.mit.edu	36	1	158278114	158278114	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158278114T>G	uc001fuw.1	-	c.833A>C	c.(832-834)GAG>GCG	p.E278A		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	278	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)					GBM(167;1368 2014 14817 36425 43215)								0.496599	213.053871	213.055462	73	74	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Missense_Mutation	SNP	158278114	158278114	8349	1	T	G	G	54	54	KCNJ10	G	4	4
PEX19	5824	broad.mit.edu	36	1	158516008	158516008	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158516008G>A	uc001fvs.1	-	c.857C>T	c.(856-858)TCG>TTG	p.S286L	PEX19_uc001fvt.1_Missense_Mutation_p.S196L	NM_002857	NP_002848	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19 isoform a	286					peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding				0	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)													0.40107	203.072053	204.676346	75	112	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Missense_Mutation	SNP	158516008	158516008	12166	1	G	A	A	37	37	PEX19	A	1	1
COPA	1314	broad.mit.edu	36	1	158532174	158532174	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158532174A>C	uc001fvv.2	-	c.2479T>G	c.(2479-2481)TTT>GTT	p.F827V	COPA_uc009wti.1_Missense_Mutation_p.F818V	NM_001098398	NP_001091868	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	818					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)	1	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)													0.218905	114.199417	128.825361	44	157	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Missense_Mutation	SNP	158532174	158532174	3865	1	A	C	C	1	1	COPA	C	4	4
RSC1A1	6248	broad.mit.edu	36	1	15859089	15859089	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15859089C>T	uc001awy.1	+	c.139C>T	c.(139-141)CGC>TGC	p.R47C	DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR	NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	47					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)												0.45614	670.087899	670.946791	234	279	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	15859089	15859089	14178	1	C	T	T	31	31	RSC1A1	T	1	1
VANGL2	57216	broad.mit.edu	36	1	158656909	158656909	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158656909G>T	uc001fwb.1	+	c.885G>T	c.(883-885)AAG>AAT	p.K295N	VANGL2_uc001fwc.1_Missense_Mutation_p.K295N	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	295	Cytoplasmic (Potential).				apical protein localization|heart looping|sensory cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)													0.127119	37.202156	69.197346	30	206	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Missense_Mutation	SNP	158656909	158656909	17685	1	G	T	T	36	36	VANGL2	T	3	3
SLAMF6	114836	broad.mit.edu	36	1	158725577	158725577	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158725577G>A	uc001fwe.1	-	c.804C>T	c.(802-804)TCC>TCT	p.S268S	SLAMF6_uc001fwd.1_Silent_p.S267S	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	268	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)													0.442105	265.679583	266.233573	84	106	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0923)		Silent	SNP	158725577	158725577	14863	1	G	A	A	39	39	SLAMF6	A	1	1
SLAMF6	114836	broad.mit.edu	36	1	158727668	158727668	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158727668G>T	uc001fwe.1	-	c.517C>A	c.(517-519)CTT>ATT	p.L173I	SLAMF6_uc001fwd.1_Missense_Mutation_p.L173I|SLAMF6_uc009wtm.1_Missense_Mutation_p.L124I	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	173	Extracellular (Potential).|Ig-like.					integral to membrane|plasma membrane	receptor activity			ovary(1)	1	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)													0.415789	221.071548	222.252128	79	111	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0923)		Missense_Mutation	SNP	158727668	158727668	14863	1	G	T	T	36	36	SLAMF6	T	3	3
SLAMF1	6504	broad.mit.edu	36	1	158873737	158873737	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158873737G>A	uc001fwl.2	-	c.283C>T	c.(283-285)CGC>TGC	p.R95C	SLAMF1_uc009wto.1_Non-coding_Transcript|SLAMF1_uc001fwm.2_Missense_Mutation_p.R95C	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	95	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)													0.217391	94.969515	110.211615	45	162	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0175)		Missense_Mutation	SNP	158873737	158873737	14862	1	G	A	A	37	37	SLAMF1	A	1	1
SLAMF7	57823	broad.mit.edu	36	1	158984916	158984916	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158984916C>T	uc001fwq.1	+	c.364C>T	c.(364-366)CTG>TTG	p.L122L	SLAMF7_uc001fwr.1_Silent_p.L122L|SLAMF7_uc001fws.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	122	Extracellular (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			ovary(1)	1	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)													0.516393	200.825668	200.854054	63	59	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0175)		Silent	SNP	158984916	158984916	14864	1	C	T	T	28	28	SLAMF7	T	2	2
CD244	51744	broad.mit.edu	36	1	159070529	159070529	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159070529G>T	uc009wtq.1	-	c.911C>A	c.(910-912)TCT>TAT	p.S304Y	CD244_uc001fxa.1_Missense_Mutation_p.S299Y|CD244_uc009wtp.1_Non-coding_Transcript|CD244_uc009wtr.1_Missense_Mutation_p.S207Y	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	304	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)													0.206107	51.64221	62.143807	27	104	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00737)		Missense_Mutation	SNP	159070529	159070529	3115	1	G	T	T	33	33	CD244	T	3	3
ITLN1	55600	broad.mit.edu	36	1	159113207	159113207	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159113207G>A	uc001fxc.1	-	c.813C>T	c.(811-813)TAC>TAT	p.Y271Y		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin	271					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)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)													0.257895	114.873832	124.977183	49	141	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00737)		Silent	SNP	159113207	159113207	8214	1	G	A	A	36	36	ITLN1	A	2	2
USF1	7391	broad.mit.edu	36	1	159276358	159276358	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159276358G>A	uc001fxi.1	-	c.909C>T	c.(907-909)GTC>GTT	p.V303V	F11R_uc001fxf.2_5'Flank|TSTD1_uc009wtw.1_5'Flank|TSTD1_uc009wtv.1_5'Flank|USF1_uc001fxj.1_Silent_p.V244V	NM_007122	NP_996888	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	303					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|negative regulation of fibrinolysis|positive regulation of gene-specific transcription from RNA polymerase II promoter|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			ovary(1)|central_nervous_system(1)	2	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)													0.425197	149.987867	150.592788	54	73	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Silent	SNP	159276358	159276358	17594	1	G	A	A	37	37	USF1	A	1	1
USF1	7391	broad.mit.edu	36	1	159278161	159278161	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159278161C>A	uc001fxi.1	-	c.376G>T	c.(376-378)GAT>TAT	p.D126Y	F11R_uc001fxf.2_5'Flank|TSTD1_uc009wtw.1_5'Flank|TSTD1_uc009wtv.1_5'Flank|USF1_uc001fxj.1_Missense_Mutation_p.D67Y	NM_007122	NP_996888	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	126					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|negative regulation of fibrinolysis|positive regulation of gene-specific transcription from RNA polymerase II promoter|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			ovary(1)|central_nervous_system(1)	2	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.219298	92.064505	108.692069	50	178	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Missense_Mutation	SNP	159278161	159278161	17594	1	C	A	A	32	32	USF1	A	3	3
USF1	7391	broad.mit.edu	36	1	159278259	159278259	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159278259G>A	uc001fxi.1	-	c.278C>T	c.(277-279)GCG>GTG	p.A93V	F11R_uc001fxf.2_5'Flank|TSTD1_uc009wtw.1_5'Flank|TSTD1_uc009wtv.1_5'Flank|USF1_uc001fxj.1_Missense_Mutation_p.A34V	NM_007122	NP_996888	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	93					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|negative regulation of fibrinolysis|positive regulation of gene-specific transcription from RNA polymerase II promoter|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			ovary(1)|central_nervous_system(1)	2	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)													0.122449	14.955087	35.474905	18	129	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Missense_Mutation	SNP	159278259	159278259	17594	1	G	A	A	38	38	USF1	A	1	1
ARHGAP30	257106	broad.mit.edu	36	1	159284439	159284439	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159284439G>A	uc001fxl.1	-	c.2996C>T	c.(2995-2997)GCT>GTT	p.A999V	USF1_uc001fxi.1_5'Flank|USF1_uc001fxj.1_5'Flank|ARHGAP30_uc001fxk.1_Missense_Mutation_p.A788V|ARHGAP30_uc001fxm.1_Missense_Mutation_p.A845V|ARHGAP30_uc009wtx.1_Missense_Mutation_p.A672V	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	999					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)	2	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)													0.407692	305.584327	307.52406	106	154	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Missense_Mutation	SNP	159284439	159284439	891	1	G	A	A	34	34	ARHGAP30	A	2	2
ARHGAP30	257106	broad.mit.edu	36	1	159284714	159284714	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159284714G>A	uc001fxl.1	-	c.2721C>T	c.(2719-2721)GAC>GAT	p.D907D	USF1_uc001fxi.1_5'Flank|USF1_uc001fxj.1_5'Flank|ARHGAP30_uc001fxk.1_Silent_p.D696D|ARHGAP30_uc001fxm.1_Silent_p.D753D|ARHGAP30_uc009wtx.1_Silent_p.D580D	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	907					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)	2	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)													0.175439	32.929384	44.261422	20	94	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Silent	SNP	159284714	159284714	891	1	G	A	A	40	40	ARHGAP30	A	1	1
ARHGAP30	257106	broad.mit.edu	36	1	159285040	159285040	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159285040C>T	uc001fxl.1	-	c.2395G>A	c.(2395-2397)GAC>AAC	p.D799N	USF1_uc001fxi.1_5'Flank|USF1_uc001fxj.1_5'Flank|ARHGAP30_uc001fxk.1_Intron|ARHGAP30_uc001fxm.1_Missense_Mutation_p.D645N|ARHGAP30_uc009wtx.1_Missense_Mutation_p.D472N	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	799	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)	2	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)													0.205628	192.622648	229.809932	95	367	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Missense_Mutation	SNP	159285040	159285040	891	1	C	T	T	30	30	ARHGAP30	T	2	2
ARHGAP30	257106	broad.mit.edu	36	1	159288043	159288043	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159288043C>T	uc001fxl.1	-	c.1105G>A	c.(1105-1107)GAG>AAG	p.E369K	ARHGAP30_uc001fxk.1_Missense_Mutation_p.E369K|ARHGAP30_uc001fxm.1_Missense_Mutation_p.E215K|ARHGAP30_uc009wtx.1_Missense_Mutation_p.E42K|ARHGAP30_uc001fxn.1_Missense_Mutation_p.E215K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	369					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)	2	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)													0.216216	72.115578	83.115376	32	116	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Missense_Mutation	SNP	159288043	159288043	891	1	C	T	T	32	32	ARHGAP30	T	2	2
ARHGAP30	257106	broad.mit.edu	36	1	159288751	159288751	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159288751G>A	uc001fxl.1	-	c.967C>T	c.(967-969)CGG>TGG	p.R323W	ARHGAP30_uc001fxk.1_Missense_Mutation_p.R323W|ARHGAP30_uc001fxm.1_Missense_Mutation_p.R169W|ARHGAP30_uc009wtx.1_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.R169W	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	323					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)	2	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)													0.43131	356.24298	357.532366	135	178	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Missense_Mutation	SNP	159288751	159288751	891	1	G	A	A	38	38	ARHGAP30	A	1	1
ARHGAP30	257106	broad.mit.edu	36	1	159289104	159289104	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159289104G>A	uc001fxl.1	-	c.772C>T	c.(772-774)CAG>TAG	p.Q258*	ARHGAP30_uc001fxk.1_Nonsense_Mutation_p.Q258*|ARHGAP30_uc001fxm.1_Nonsense_Mutation_p.Q104*|ARHGAP30_uc009wtx.1_5'UTR|ARHGAP30_uc001fxn.1_Nonsense_Mutation_p.Q104*	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	258					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)	2	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)													0.39759	82.5482	83.312081	33	50	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Nonsense_Mutation	SNP	159289104	159289104	891	1	G	A	A	46	46	ARHGAP30	A	5	2
ARHGAP30	257106	broad.mit.edu	36	1	159296093	159296093	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159296093C>A	uc001fxl.1	-	c.135G>T	c.(133-135)GAG>GAT	p.E45D	ARHGAP30_uc001fxk.1_Missense_Mutation_p.E45D|ARHGAP30_uc001fxm.1_De_novo_Start_OutOfFrame|ARHGAP30_uc009wtx.1_De_novo_Start_OutOfFrame|ARHGAP30_uc001fxn.1_De_novo_Start_OutOfFrame	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	45	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)	2	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)													0.436242	176.14973	176.677613	65	84	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00122)		Missense_Mutation	SNP	159296093	159296093	891	1	C	A	A	24	24	ARHGAP30	A	3	3
PVRL4	81607	broad.mit.edu	36	1	159310659	159310659	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159310659G>A	uc001fxo.1	-	c.1129C>T	c.(1129-1131)CGC>TGC	p.R377C		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	377	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)					NSCLC(76;1160 1387 14476 16172 29359)								0.509091	231.069321	231.080892	84	81	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00165)		Missense_Mutation	SNP	159310659	159310659	13300	1	G	A	A	38	38	PVRL4	A	1	1
PLEKHM2	23207	broad.mit.edu	36	1	15932929	15932929	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15932929C>T	uc001axa.2	+	c.3282C>T	c.(3280-3282)TTC>TTT	p.F1094F	SLC25A34_uc001axb.1_5'Flank	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	991					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)												0.43871	183.096415	183.577317	68	87	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	Silent	SNP	15932929	15932929	12507	1	C	T	T	31	31	PLEKHM2	T	1	1
DEDD	9191	broad.mit.edu	36	1	159358849	159358849	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159358849C>T	uc009wty.1	-	c.759G>A	c.(757-759)GAG>GAA	p.E253E	NIT1_uc001fxw.2_Intron|DEDD_uc001fxz.1_Silent_p.E223E|DEDD_uc001fya.1_Silent_p.E223E|DEDD_uc001fyb.1_Silent_p.E223E|DEDD_uc001fyc.1_Silent_p.E63E	NM_001039712	NP_127491	O75618	DEDD_HUMAN	death effector domain-containing protein	223					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)													0.443223	351.473672	352.232792	121	152	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00165)		Silent	SNP	159358849	159358849	4555	1	C	T	T	28	28	DEDD	T	2	2
USP21	27005	broad.mit.edu	36	1	159398477	159398477	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159398477C>A	uc009wtz.1	+	c.626C>A	c.(625-627)TCT>TAT	p.S209Y	USP21_uc009wua.1_Missense_Mutation_p.S209Y|USP21_uc009wub.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	209					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)													0.236264	89.210242	100.805553	43	139	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00275)		Missense_Mutation	SNP	159398477	159398477	17616	1	C	A	A	32	32	USP21	A	3	3
FCER1G	2207	broad.mit.edu	36	1	159455357	159455357	+	Nonstop_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159455357G>T	uc001fza.1	+	c.264G>T	c.(262-264)TAG>TAT	p.*88Y	FCER1G_uc001fyz.1_Nonstop_Mutation_p.*87Y	NM_004106	NP_004097	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor	88					platelet activation	integral to plasma membrane					0	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)				Benzylpenicilloyl Polylysine(DB00895)									0.178378	61.953479	79.977766	33	152	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Nonstop_Mutation	SNP	159455357	159455357	6012	1	G	T	T	34	34	FCER1G	T	5	3
APOA2	336	broad.mit.edu	36	1	159459407	159459407	+	Missense_Mutation	SNP	T	C	C	rs1803089	unknown	TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159459407T>C	uc001fzc.1	-	c.110A>G	c.(109-111)TAC>TGC	p.Y37C	APOA2_uc001fzb.1_Intron	NM_001643	NP_001634	P02652	APOA2_HUMAN	apolipoprotein A-II preproprotein	37					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity				0	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)													0.45	362.767791	363.289582	108	132	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Missense_Mutation	SNP	159459407	159459407	793	1	T	C	C	57	57	APOA2	C	4	4
NR1I3	9970	broad.mit.edu	36	1	159469285	159469285	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159469285C>T	uc001fzp.1	-	c.484G>A	c.(484-486)GCA>ACA	p.A162T	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001gac.1_Missense_Mutation_p.A133T|NR1I3_uc001fzg.1_Missense_Mutation_p.A133T|NR1I3_uc001fzj.1_Missense_Mutation_p.A133T|NR1I3_uc001fzi.1_Missense_Mutation_p.A133T|NR1I3_uc001fzl.1_Missense_Mutation_p.A133T|NR1I3_uc001fzk.1_Missense_Mutation_p.A133T|NR1I3_uc001fzm.1_Missense_Mutation_p.A87T|NR1I3_uc001fzn.1_5'UTR|NR1I3_uc009wug.1_5'UTR|NR1I3_uc001fzf.1_Missense_Mutation_p.A162T|NR1I3_uc001fzo.1_5'UTR|NR1I3_uc001fzt.1_5'UTR|NR1I3_uc001fzs.1_5'UTR|NR1I3_uc001fzr.1_Intron|NR1I3_uc001fzq.1_Intron|NR1I3_uc001fzv.1_Intron|NR1I3_uc001fzu.1_Intron|NR1I3_uc001fzx.1_Missense_Mutation_p.A162T|NR1I3_uc001fzy.1_Missense_Mutation_p.A162T|NR1I3_uc001fzw.1_Missense_Mutation_p.A162T|NR1I3_uc001fzz.1_Missense_Mutation_p.A162T|NR1I3_uc001gab.1_Missense_Mutation_p.A162T|NR1I3_uc001fzh.1_Missense_Mutation_p.A133T|NR1I3_uc001gaa.1_Missense_Mutation_p.A162T	NM_001077482	NP_001070950	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 1	162					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)													0.173502	92.878883	124.756797	55	262	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Missense_Mutation	SNP	159469285	159469285	11026	1	C	T	T	27	27	NR1I3	T	1	1
C1orf192	257177	broad.mit.edu	36	1	159601444	159601444	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159601444C>A	uc001gal.1	-	c.469G>T	c.(469-471)GAA>TAA	p.E157*		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	hypothetical protein LOC257177	157											0	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)													0.230088	106.75893	121.876029	52	174	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Nonsense_Mutation	SNP	159601444	159601444	2092	1	C	A	A	29	29	C1orf192	A	5	3
FCGR2A	2212	broad.mit.edu	36	1	159746451	159746451	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159746451G>A	uc001gan.1	+	c.582G>A	c.(580-582)ACG>ACA	p.T194T	FCGR2A_uc001gam.1_Silent_p.T193T|FCGR2A_uc001gao.1_Non-coding_Transcript	NM_021642	NP_067674	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	194	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.514851	133.061543	133.080445	52	49	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Silent	SNP	159746451	159746451	6018	1	G	A	A	38	38	FCGR2A	A	1	1
FCGR2A	2212	broad.mit.edu	36	1	159747302	159747302	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159747302C>T	uc001gan.1	+	c.674C>T	c.(673-675)GCG>GTG	p.A225V	FCGR2A_uc001gam.1_Missense_Mutation_p.A224V|FCGR2A_uc001gao.1_Non-coding_Transcript	NM_021642	NP_067674	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	225	Helical; (Potential).					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.427711	170.789136	171.543167	71	95	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Missense_Mutation	SNP	159747302	159747302	6018	1	C	T	T	27	27	FCGR2A	T	1	1
HSPA6	3310	broad.mit.edu	36	1	159761883	159761883	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159761883C>T	uc001gap.1	+	c.811C>T	c.(811-813)CGC>TGC	p.R271C	HSPA6_uc001gaq.1_Missense_Mutation_p.R271C	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	271					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)													0.288889	29.254844	31.054346	13	32	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Missense_Mutation	SNP	159761883	159761883	7714	1	C	T	T	27	27	HSPA6	T	1	1
FCRLA	84824	broad.mit.edu	36	1	159949714	159949714	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159949714C>A	uc001gbe.1	+	c.1069C>A	c.(1069-1071)CTC>ATC	p.L357I	FCRLA_uc001gbd.1_Missense_Mutation_p.L351I|FCRLA_uc001gbf.1_Missense_Mutation_p.L262I|FCRLA_uc001gbg.1_Missense_Mutation_p.L211I|FCRLA_uc009wuo.1_Missense_Mutation_p.L217I|FCRLA_uc009wup.1_Missense_Mutation_p.L167I|FCRLA_uc009wuq.1_Missense_Mutation_p.L116I|FCRLA_uc009wur.1_Missense_Mutation_p.L212I	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	334					cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)													0.394068	247.524413	249.841164	93	143	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00301)		Missense_Mutation	SNP	159949714	159949714	6037	1	C	A	A	24	24	FCRLA	A	3	3
ATF6	22926	broad.mit.edu	36	1	160056184	160056184	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160056184G>A	uc001gbr.1	+	c.1047G>A	c.(1045-1047)AAG>AAA	p.K349K	ATF6_uc001gbq.1_Silent_p.K349K	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	349	Cytoplasmic (Potential).|Leucine-zipper.				positive regulation of gene-specific transcription involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_hematologic(112;0.156)													0.355556	88.970273	90.626662	32	58	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00953)		Silent	SNP	160056184	160056184	1103	1	G	A	A	33	33	ATF6	A	2	2
OLFML2B	25903	broad.mit.edu	36	1	160220504	160220504	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160220504C>T	uc001gbu.1	-	c.1838G>A	c.(1837-1839)CGA>CAA	p.R613Q	OLFML2B_uc001gbt.1_Missense_Mutation_p.R96Q	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	613	Olfactomedin-like.										0	all_hematologic(112;0.156)													0.15	24.764666	38.875698	18	102	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0172)		Missense_Mutation	SNP	160220504	160220504	11263	1	C	T	T	31	31	OLFML2B	T	1	1
OLFML2B	25903	broad.mit.edu	36	1	160234250	160234250	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160234250C>T	uc001gbu.1	-	c.1463G>A	c.(1462-1464)CGG>CAG	p.R488Q		NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	488											0	all_hematologic(112;0.156)													0.18677	197.90247	245.149378	96	418	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0172)		Missense_Mutation	SNP	160234250	160234250	11263	1	C	T	T	23	23	OLFML2B	T	1	1
OLFML2B	25903	broad.mit.edu	36	1	160234316	160234316	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160234316G>A	uc001gbu.1	-	c.1397C>T	c.(1396-1398)GCT>GTT	p.A466V		NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	466											0	all_hematologic(112;0.156)													0.457237	380.665959	381.152193	139	165	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0172)		Missense_Mutation	SNP	160234316	160234316	11263	1	G	A	A	34	34	OLFML2B	A	2	2
OLFML2B	25903	broad.mit.edu	36	1	160256485	160256485	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160256485C>T	uc001gbu.1	-	c.286G>A	c.(286-288)GCC>ACC	p.A96T		NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	96											0	all_hematologic(112;0.156)													0.418079	198.68867	199.730137	74	103	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0172)		Missense_Mutation	SNP	160256485	160256485	11263	1	C	T	T	26	26	OLFML2B	T	2	2
NOS1AP	9722	broad.mit.edu	36	1	160306644	160306644	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160306644T>C	uc001gbv.2	+	c.53T>C	c.(52-54)ATC>ACC	p.I18T	NOS1AP_uc001gbw.2_Missense_Mutation_p.I18T	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	18					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)	2	all_hematologic(112;0.203)													0.122093	28.471821	52.513427	21	151	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0537)		Missense_Mutation	SNP	160306644	160306644	10945	1	T	C	C	50	50	NOS1AP	C	4	4
SPEN	23013	broad.mit.edu	36	1	16072113	16072113	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16072113G>A	uc001axk.1	+	c.299G>A	c.(298-300)CGT>CAT	p.R100H		NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	100	By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)								551				0.168367	52.528162	72.893226	33	163	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	16072113	16072113	15550	1	G	A	A	40	40	SPEN	A	1	1
UHMK1	127933	broad.mit.edu	36	1	160734648	160734648	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160734648G>A	uc001gcc.1	+	c.234G>A	c.(232-234)GCG>GCA	p.A78A	UHMK1_uc001gcb.1_Intron|UHMK1_uc009wuu.1_Silent_p.A78A	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	78	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)									266				0.236364	31.254418	34.744147	13	42	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.126)		Silent	SNP	160734648	160734648	17524	1	G	A	A	39	39	UHMK1	A	1	1
UAP1	6675	broad.mit.edu	36	1	160802703	160802703	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160802703G>A	uc001gce.2	+	c.221G>A	c.(220-222)CGA>CAA	p.R74Q		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	74					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.115)													0.440476	103.761145	104.020609	37	47	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.126)		Missense_Mutation	SNP	160802703	160802703	17382	1	G	A	A	37	37	UAP1	A	1	1
DDR2	4921	broad.mit.edu	36	1	160991249	160991249	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160991249C>T	uc001gcf.1	+	c.397C>T	c.(397-399)CGG>TGG	p.R133W	DDR2_uc001gcg.1_Missense_Mutation_p.R133W	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	133	Extracellular (Potential).|F5/8 type C.				cell adhesion|protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)					NSCLC(161;314 2006 8283 19651 23192)				497				0.174825	43.695815	57.957113	25	118	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.113)		Missense_Mutation	SNP	160991249	160991249	4508	1	C	T	T	27	27	DDR2	T	1	1
DDR2	4921	broad.mit.edu	36	1	160996375	160996375	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160996375G>T	uc001gcf.1	+	c.837G>T	c.(835-837)AGG>AGT	p.R279S	DDR2_uc001gcg.1_Missense_Mutation_p.R279S	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	279	Extracellular (Potential).				cell adhesion|protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)					NSCLC(161;314 2006 8283 19651 23192)				497				0.211429	70.364173	83.856786	37	138	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.113)		Missense_Mutation	SNP	160996375	160996375	4508	1	G	T	T	41	41	DDR2	T	3	3
DDR2	4921	broad.mit.edu	36	1	161016609	161016609	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:161016609T>C	uc001gcf.1	+	c.2517T>C	c.(2515-2517)CGT>CGC	p.R839R	DDR2_uc001gcg.1_Silent_p.R839R	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	839	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)					NSCLC(161;314 2006 8283 19651 23192)				497				0.245399	221.968494	241.195262	80	246	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.113)		Silent	SNP	161016609	161016609	4508	1	T	C	C	58	58	DDR2	C	4	4
C1orf110	339512	broad.mit.edu	36	1	161091371	161091371	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:161091371G>A	uc001gck.2	-	c.717C>T	c.(715-717)GGC>GGT	p.G239G	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Silent_p.G238G	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	hypothetical protein LOC339512	239											0														0.2125	67.759469	79.98882	34	126	GG		KEEP	---	---	---	---	capture			Silent	SNP	161091371	161091371	2050	1	G	A	A	38	38	C1orf110	A	1	1
C1orf110	339512	broad.mit.edu	36	1	161095891	161095891	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:161095891A>G	uc001gck.2	-	c.170T>C	c.(169-171)CTG>CCG	p.L57P	C1orf110_uc009wux.1_Missense_Mutation_p.L57P	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	hypothetical protein LOC339512	57	Potential.										0														0.5	106.722004	106.722004	35	35	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	161095891	161095891	2050	1	A	G	G	7	7	C1orf110	G	4	4
SPEN	23013	broad.mit.edu	36	1	16129694	16129694	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16129694C>T	uc001axk.1	+	c.4372C>T	c.(4372-4374)CGT>TGT	p.R1458C		NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1458					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)								551				0.469388	265.278241	265.438374	92	104	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	16129694	16129694	15550	1	C	T	T	31	31	SPEN	T	1	1
SPEN	23013	broad.mit.edu	36	1	16130034	16130034	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16130034G>A	uc001axk.1	+	c.4712G>A	c.(4711-4713)AGC>AAC	p.S1571N		NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1571					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)								551				0.214815	61.494068	71.637493	29	106	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	16130034	16130034	15550	1	G	A	A	34	34	SPEN	A	2	2
SPEN	23013	broad.mit.edu	36	1	16132164	16132164	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16132164C>A	uc001axk.1	+	c.6842C>A	c.(6841-6843)TCT>TAT	p.S2281Y		NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2281	RID.|Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)								551				0.203175	111.194603	137.006896	64	251	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	16132164	16132164	15550	1	C	A	A	32	32	SPEN	A	3	3
SPEN	23013	broad.mit.edu	36	1	16134021	16134021	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16134021C>T	uc001axk.1	+	c.8699C>T	c.(8698-8700)TCG>TTG	p.S2900L		NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2900					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)								551				0.448598	136.483306	136.729848	48	59	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	16134021	16134021	15550	1	C	T	T	31	31	SPEN	T	1	1
RGS5	8490	broad.mit.edu	36	1	161389069	161389069	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:161389069G>T	uc001gcn.1	-	c.279C>A	c.(277-279)TTC>TTA	p.F93L	RGS5_uc009wvb.1_Non-coding_Transcript	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	93	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0														0.204453	191.657573	231.743807	101	393	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.187)		Missense_Mutation	SNP	161389069	161389069	13782	1	G	T	T	33	33	RGS5	T	3	3
NUF2	83540	broad.mit.edu	36	1	161591791	161591791	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:161591791G>A	uc001gcq.1	+	c.1303G>A	c.(1303-1305)GAC>AAC	p.D435N	NUF2_uc001gcr.1_Missense_Mutation_p.D435N|NUF2_uc009wvc.1_Missense_Mutation_p.D388N	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	435	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)	3	all_hematologic(923;0.101)													0.233333	106.257709	119.938385	49	161	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	161591791	161591791	11152	1	G	A	A	37	37	NUF2	A	1	1
CLCNKA	1187	broad.mit.edu	36	1	16227113	16227113	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16227113G>A	uc001axu.1	+	c.880G>A	c.(880-882)GTC>ATC	p.V294I	CLCNKB_uc001axw.2_Intron|CLCNKA_uc001axt.1_Non-coding_Transcript|CLCNKA_uc001axv.1_Missense_Mutation_p.V294I	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	294	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)			Niflumic Acid(DB04552)									0.228814	113.252229	129.15855	54	182	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	16227113	16227113	3605	1	G	A	A	40	40	CLCNKA	A	1	1
CLCNKB	1188	broad.mit.edu	36	1	16247064	16247064	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16247064G>A	uc001axw.2	+	c.436G>A	c.(436-438)GCC>ACC	p.A146T	CLCNKB_uc001axx.2_Missense_Mutation_p.A146T|CLCNKB_uc001axy.2_5'Flank	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb	146					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)												0.382353	134.353888	136.008939	52	84	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	16247064	16247064	3606	1	G	A	A	42	42	CLCNKB	A	2	2
LMX1A	4009	broad.mit.edu	36	1	163485381	163485381	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:163485381C>A	uc001gcy.1	-	c.384G>T	c.(382-384)CAG>CAT	p.Q128H	LMX1A_uc001gcz.1_Missense_Mutation_p.Q128H	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	128	LIM zinc-binding 2.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4	all_hematologic(923;0.248)													0.457317	203.2854	203.547723	75	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	163485381	163485381	9190	1	C	A	A	28	28	LMX1A	A	3	3
EPHA2	1969	broad.mit.edu	36	1	16350002	16350002	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16350002C>T	uc001aya.1	-	c.129G>A	c.(127-129)TGG>TGA	p.W43*		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2	43	Extracellular (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|ephrin receptor signaling pathway|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|protein phosphorylation|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|leading edge membrane	ATP binding|ephrin receptor activity|protein binding			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)			Dasatinib(DB01254)					485				0.138365	52.757986	92.954099	44	274	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Nonsense_Mutation	SNP	16350002	16350002	5360	1	C	T	T	26	26	EPHA2	T	5	2
MGST3	4259	broad.mit.edu	36	1	163886947	163886947	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:163886947A>C	uc001gdg.1	+	c.232A>C	c.(232-234)ACG>CCG	p.T78P	MGST3_uc001gdf.1_Missense_Mutation_p.T64P	NM_004528	NP_004519	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	64					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)									0.146018	66.945843	94.153086	33	193	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	163886947	163886947	9952	1	A	C	C	6	6	MGST3	C	4	4
ALDH9A1	223	broad.mit.edu	36	1	163903290	163903290	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:163903290G>C	uc001gdh.1	-	c.1229C>G	c.(1228-1230)ACC>AGC	p.T410S		NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	386					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process|oxidation-reduction process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	Ovarian(179;1583 2014 18106 33801 42447)								0.09375	17.002706	48.8505	18	174	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	163903290	163903290	509	1	G	C	C	44	44	ALDH9A1	C	3	3
ARHGEF19	128272	broad.mit.edu	36	1	16403985	16403985	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16403985G>T	uc001ayc.1	-	c.1763C>A	c.(1762-1764)TCT>TAT	p.S588Y	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.S65Y	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	588					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.333333	29.184072	30.071659	12	24	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	16403985	16403985	916	1	G	T	T	33	33	ARHGEF19	T	3	3
ARHGEF19	128272	broad.mit.edu	36	1	16407216	16407216	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16407216C>T	uc001ayc.1	-	c.504G>A	c.(502-504)GAG>GAA	p.E168E	ARHGEF19_uc009voo.1_5'Flank|ARHGEF19_uc001ayb.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	168					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.228758	79.03956	89.370462	35	118	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	16407216	16407216	916	1	C	T	T	28	28	ARHGEF19	T	2	2
UCK2	7371	broad.mit.edu	36	1	164126136	164126136	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:164126136C>T	uc001gdp.1	+	c.171C>T	c.(169-171)GTC>GTT	p.V57V		NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	57					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			ovary(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)													0.218605	93.300543	109.001179	47	168	CC		KEEP	---	---	---	---	capture			Silent	SNP	164126136	164126136	17482	1	C	T	T	29	29	UCK2	T	2	2
FAM78B	149297	broad.mit.edu	36	1	164306137	164306137	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:164306137G>A	uc001gdr.1	-	c.751C>T	c.(751-753)CGG>TGG	p.R251W	FAM78B_uc001gdq.2_Non-coding_Transcript	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	251										central_nervous_system(1)	1	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)													0.186495	102.916744	131.529265	58	253	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	164306137	164306137	5853	1	G	A	A	38	38	FAM78B	A	1	1
POGK	57645	broad.mit.edu	36	1	165085134	165085134	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:165085134C>T	uc001gdt.1	+	c.694C>T	c.(694-696)CGA>TGA	p.R232*		NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	232					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GBM(76;192 1530 30153 48742)								0.165468	38.11542	52.817779	23	116	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	165085134	165085134	12613	1	C	T	T	31	31	POGK	T	5	1
FBXO42	54455	broad.mit.edu	36	1	16514455	16514455	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16514455C>T	uc001ayg.1	-	c.46G>A	c.(46-48)GAC>AAC	p.D16N	FBXO42_uc001ayf.1_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.D16N	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	16											0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.42029	157.78878	158.561218	58	80	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	Missense_Mutation	SNP	16514455	16514455	5988	1	C	T	T	30	30	FBXO42	T	2	2
ILDR2	387597	broad.mit.edu	36	1	165193887	165193887	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:165193887C>T	uc001gdx.1	-	c.122G>A	c.(121-123)CGC>CAC	p.R41H		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	41	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1														0.206081	120.416497	143.980289	61	235	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165193887	165193887	8011	1	C	T	T	27	27	ILDR2	T	1	1
MAEL	84944	broad.mit.edu	36	1	165257576	165257576	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:165257576C>T	uc001gdy.1	+	c.1165C>T	c.(1165-1167)CGG>TGG	p.R389W	MAEL_uc001gdz.1_Missense_Mutation_p.R358W|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	389					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														0.170732	49.093991	65.916314	28	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165257576	165257576	9531	1	C	T	T	31	31	MAEL	T	1	1
MAEL	84944	broad.mit.edu	36	1	165257641	165257641	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:165257641C>A	uc001gdy.1	+	c.1230C>A	c.(1228-1230)TTC>TTA	p.F410L	MAEL_uc001gdz.1_Missense_Mutation_p.F379L|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	410					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														0.389764	259.142191	261.853722	99	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165257641	165257641	9531	1	C	A	A	32	32	MAEL	A	3	3
GPA33	10223	broad.mit.edu	36	1	165291672	165291672	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:165291672C>A	uc001gea.1	-	c.610G>T	c.(610-612)GAC>TAC	p.D204Y		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	204	Ig-like C2-type.|Extracellular (Potential).					integral to plasma membrane	receptor activity				0														0.264865	105.942102	115.229306	49	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165291672	165291672	6860	1	C	A	A	32	32	GPA33	A	3	3
MPZL1	9019	broad.mit.edu	36	1	166001493	166001493	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166001493C>T	uc001geo.1	+	c.141C>T	c.(139-141)TTC>TTT	p.F47F	MPZL1_uc001gen.2_Silent_p.F47F|MPZL1_uc001gep.1_Silent_p.F47F|MPZL1_uc009wvh.1_Non-coding_Transcript|MPZL1_uc001geq.1_Silent_p.F47F|MPZL1_uc009wvi.1_5'UTR	NM_003953	NP_003944	O95297	MPZL1_HUMAN	myelin protein zero-like 1 isoform a	47	Extracellular (Potential).|Ig-like V-type.				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			ovary(2)	2	all_hematologic(923;0.215)													0.452229	200.498511	200.811224	71	86	CC		KEEP	---	---	---	---	capture			Silent	SNP	166001493	166001493	10141	1	C	T	T	31	31	MPZL1	T	1	1
ADCY10	55811	broad.mit.edu	36	1	166045650	166045650	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166045650C>T	uc001ger.1	-	c.4722G>A	c.(4720-4722)ACG>ACA	p.T1574T	ADCY10_uc009wvj.1_Non-coding_Transcript|ADCY10_uc009wvk.1_Silent_p.T1482T	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	soluble adenylyl cyclase	1574					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3														0.224299	101.893794	116.842299	48	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	166045650	166045650	294	1	C	T	T	31	31	ADCY10	T	1	1
ADCY10	55811	broad.mit.edu	36	1	166072332	166072332	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166072332C>T	uc001ger.1	-	c.3148G>A	c.(3148-3150)GAA>AAA	p.E1050K	ADCY10_uc009wvj.1_5'Flank|ADCY10_uc009wvk.1_Missense_Mutation_p.E958K	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	soluble adenylyl cyclase	1050					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3														0.197719	100.742449	123.132493	52	211	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166072332	166072332	294	1	C	T	T	31	31	ADCY10	T	1	1
ADCY10	55811	broad.mit.edu	36	1	166082091	166082091	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166082091A>C	uc001ger.1	-	c.2472T>G	c.(2470-2472)CTT>CTG	p.L824L	ADCY10_uc009wvk.1_Silent_p.L732L|ADCY10_uc009wvl.1_Silent_p.L823L	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	soluble adenylyl cyclase	824					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3														0.466077	545.139693	545.47705	158	181	AA		KEEP	---	---	---	---	capture			Silent	SNP	166082091	166082091	294	1	A	C	C	1	1	ADCY10	C	4	4
ADCY10	55811	broad.mit.edu	36	1	166140916	166140916	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166140916G>T	uc001ger.1	-	c.87C>A	c.(85-87)TTC>TTA	p.F29L	ADCY10_uc009wvk.1_5'UTR|ADCY10_uc009wvl.1_Missense_Mutation_p.F29L|ADCY10_uc009wvm.1_Non-coding_Transcript	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	soluble adenylyl cyclase	29					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3														0.206422	87.439503	104.872769	45	173	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166140916	166140916	294	1	G	T	T	33	33	ADCY10	T	3	3
DCAF6	55827	broad.mit.edu	36	1	166281047	166281047	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166281047T>C	uc001gex.1	+	c.2216T>C	c.(2215-2217)GTC>GCC	p.V739A	DCAF6_uc001gev.1_Missense_Mutation_p.V682A|DCAF6_uc001gew.1_Missense_Mutation_p.V662A|DCAF6_uc001gez.1_5'UTR	NM_018442	NP_060912	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform a	662					positive regulation of transcription from RNA polymerase II promoter|protein ubiquitination	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)	2														0.409091	145.653284	146.447471	45	65	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166281047	166281047	4445	1	T	C	C	58	58	DCAF6	C	4	4
NECAP2	55707	broad.mit.edu	36	1	16647170	16647170	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16647170C>T	uc001ayo.1	+	c.327C>T	c.(325-327)TTC>TTT	p.F109F	NECAP2_uc001ayp.2_Non-coding_Transcript|NECAP2_uc001ayq.1_Silent_p.F109F	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2 isoform 1	109					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane					0		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.447721	473.245344	474.136805	167	206	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	16647170	16647170	10707	1	C	T	T	31	31	NECAP2	T	1	1
TBX19	9095	broad.mit.edu	36	1	166529131	166529131	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166529131G>T	uc001gfl.1	+	c.594G>T	c.(592-594)CAG>CAT	p.Q198H	TBX19_uc001gfj.2_Missense_Mutation_p.Q129H	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	198	T-box.				anatomical structure morphogenesis	nucleus	DNA binding|RNA polymerase II transcription factor activity				0	all_hematologic(923;0.215)													0.508475	79.134575	79.137991	30	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166529131	166529131	16180	1	G	T	T	33	33	TBX19	T	3	3
TBX19	9095	broad.mit.edu	36	1	166544619	166544619	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166544619G>T	uc001gfl.1	+	c.932G>T	c.(931-933)AGC>ATC	p.S311I	TBX19_uc001gfj.2_Missense_Mutation_p.S179I|TBX19_uc001gfm.1_Missense_Mutation_p.S14I	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	311					anatomical structure morphogenesis	nucleus	DNA binding|RNA polymerase II transcription factor activity				0	all_hematologic(923;0.215)													0.43686	357.400637	358.427383	128	165	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166544619	166544619	16180	1	G	T	T	34	34	TBX19	T	3	3
NADK	65220	broad.mit.edu	36	1	1674313	1674313	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1674313G>A	uc001aie.1	-	c.1666C>T	c.(1666-1668)CGG>TGG	p.R556W	NADK_uc009vkw.1_Missense_Mutation_p.R411W|NADK_uc001aic.1_Missense_Mutation_p.R411W|NADK_uc001aid.2_Missense_Mutation_p.R411W	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	411					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)												0.24	12.737045	14.280403	6	19	GG		KEEP	---	---	---	---	capture		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	Missense_Mutation	SNP	1674313	1674313	10533	1	G	A	A	38	38	NADK	A	1	1
NME7	29922	broad.mit.edu	36	1	167534430	167534430	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167534430A>C	uc001gfu.1	-	c.636T>G	c.(634-636)GCT>GCG	p.A212A	NME7_uc001gft.1_Silent_p.A176A|NME7_uc001gfv.1_Silent_p.A212A	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	nucleoside-diphosphate kinase 7 isoform a	212					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)													0.189003	122.249445	148.58528	55	236	AA		KEEP	---	---	---	---	capture			Silent	SNP	167534430	167534430	10899	1	A	C	C	3	3	NME7	C	4	4
NME7	29922	broad.mit.edu	36	1	167539019	167539019	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167539019C>A	uc001gfu.1	-	c.428G>T	c.(427-429)AGA>ATA	p.R143I	NME7_uc001gft.1_Missense_Mutation_p.R107I|NME7_uc001gfv.1_Missense_Mutation_p.R143I	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	nucleoside-diphosphate kinase 7 isoform a	143					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)													0.193548	44.218296	55.097826	24	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167539019	167539019	10899	1	C	A	A	32	32	NME7	A	3	3
C1orf114	57821	broad.mit.edu	36	1	167657432	167657432	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167657432C>T	uc001gga.1	-	c.861G>A	c.(859-861)CCG>CCA	p.P287P	C1orf114_uc001gfz.1_Silent_p.P287P|C1orf114_uc009wvq.1_Silent_p.P287P|C1orf114_uc001ggb.2_Silent_p.P287P|C1orf114_uc001ggc.1_Silent_p.P287P	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	287											0	all_hematologic(923;0.208)													0.227848	110.223409	126.34016	54	183	CC		KEEP	---	---	---	---	capture			Silent	SNP	167657432	167657432	2054	1	C	T	T	27	27	C1orf114	T	1	1
F5	2153	broad.mit.edu	36	1	167750246	167750246	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167750246G>A	uc001ggg.1	-	c.6604C>T	c.(6604-6606)CGT>TGT	p.R2202C		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	2202	F5/8 type C 2.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.517241	286.552425	286.597314	90	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167750246	167750246	5542	1	G	A	A	39	39	F5	A	1	1
NBPF1	55672	broad.mit.edu	36	1	16780566	16780566	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16780566C>T	uc009vos.1	-	c.1315G>A	c.(1315-1317)GAA>AAA	p.E439K	NBPF1_uc009vor.1_Missense_Mutation_p.E168K|NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	439	NBPF 2.					cytoplasm					0														0.154255	131.581524	196.036317	87	477	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	Missense_Mutation	SNP	16780566	16780566	10588	1	C	T	T	31	31	NBPF1	T	1	1
NADK	65220	broad.mit.edu	36	1	1678513	1678513	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1678513C>T	uc001aie.1	-	c.672G>A	c.(670-672)CAG>CAA	p.Q224Q	NADK_uc009vkw.1_Silent_p.Q120Q|NADK_uc001aic.1_Silent_p.Q120Q|NADK_uc001aid.2_Silent_p.Q120Q|NADK_uc009vkx.1_5'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	120					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)												0.239583	150.211103	168.059604	69	219	CC		KEEP	---	---	---	---	capture		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	Silent	SNP	1678513	1678513	10533	1	C	T	T	28	28	NADK	T	2	2
SCYL3	57147	broad.mit.edu	36	1	168090310	168090310	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:168090310C>T	uc001ggs.2	-	c.1894G>A	c.(1894-1896)GCA>ACA	p.A632T	SCYL3_uc001ggt.2_Missense_Mutation_p.A578T|SCYL3_uc001ggu.2_Non-coding_Transcript	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	632	Interaction with EZR.				cell migration|protein phosphorylation	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)								p.A632T(SNU175-Tumor)	1996				0.210526	90.544839	108.179252	48	180	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	168090310	168090310	14434	1	C	T	T	27	27	SCYL3	T	1	1
SCYL3	57147	broad.mit.edu	36	1	168124509	168124509	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:168124509C>A	uc001ggs.2	-	c.97G>T	c.(97-99)GAT>TAT	p.D33Y	SCYL3_uc001ggt.2_Missense_Mutation_p.D33Y|SCYL3_uc001ggu.2_Non-coding_Transcript	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	33	Protein kinase.				cell migration|protein phosphorylation	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)									1996				0.152542	36.890817	57.370293	27	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	168124509	168124509	14434	1	C	A	A	32	32	SCYL3	A	3	3
KIFAP3	22920	broad.mit.edu	36	1	168208277	168208277	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:168208277C>A	uc001ggv.1	-	c.1983_splice	c.e17+1	p.A661_splice		NM_014970	NP_055785			kinesin-associated protein 3						blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.268293	29.205336	31.193413	11	30	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	168208277	168208277	8622	1	C	A	A	18	18	KIFAP3	A	5	3
GORAB	92344	broad.mit.edu	36	1	168787951	168787951	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:168787951C>T	uc001gha.1	+	c.909C>T	c.(907-909)GCC>GCT	p.A303A	GORAB_uc001ghb.1_Silent_p.A123A|GORAB_uc009wvx.1_Silent_p.A123A|GORAB_uc001ghc.1_Silent_p.A123A|GORAB_uc001ghd.1_Silent_p.A96A	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	303	Necessary for interaction with RCHY1.|Potential.					Golgi apparatus|nucleus					0														0.183908	32.247759	40.405764	16	71	CC		KEEP	---	---	---	---	capture			Silent	SNP	168787951	168787951	6847	1	C	T	T	23	23	GORAB	T	1	1
FMO3	2328	broad.mit.edu	36	1	169343572	169343572	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169343572T>C	uc001ghh.1	+	c.454T>C	c.(454-456)TAT>CAT	p.Y152H	FMO3_uc001ghi.1_Missense_Mutation_p.Y152H	NM_006894	NP_008825	P31513	FMO3_HUMAN	flavin containing monooxygenase 3 isoform 1	152					oxidation-reduction process|xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.218605	114.505124	130.221108	47	168	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	169343572	169343572	6198	1	T	C	C	57	57	FMO3	C	4	4
FMO3	2328	broad.mit.edu	36	1	169352967	169352967	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169352967G>T	uc001ghh.1	+	c.1360G>T	c.(1360-1362)GAT>TAT	p.D454Y	FMO3_uc001ghi.1_Missense_Mutation_p.D454Y	NM_006894	NP_008825	P31513	FMO3_HUMAN	flavin containing monooxygenase 3 isoform 1	454				D -> G (in Ref. 1; AAA86284).	oxidation-reduction process|xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.210526	61.605814	73.401153	32	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	169352967	169352967	6198	1	G	T	T	33	33	FMO3	T	3	3
FMO3	2328	broad.mit.edu	36	1	169353055	169353055	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169353055G>T	uc001ghh.1	+	c.1448G>T	c.(1447-1449)AGA>ATA	p.R483I	FMO3_uc001ghi.1_Missense_Mutation_p.R483I	NM_006894	NP_008825	P31513	FMO3_HUMAN	flavin containing monooxygenase 3 isoform 1	483					oxidation-reduction process|xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.189189	58.294654	75.047171	35	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	169353055	169353055	6198	1	G	T	T	33	33	FMO3	T	3	3
FMO2	2327	broad.mit.edu	36	1	169441174	169441174	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169441174G>A	uc001ghk.1	+	c.960G>A	c.(958-960)GAG>GAA	p.E320E		NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	320					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.155556	35.981811	51.284669	21	114	GG		KEEP	---	---	---	---	capture			Silent	SNP	169441174	169441174	6197	1	G	A	A	33	33	FMO2	A	2	2
FMO2	2327	broad.mit.edu	36	1	169444617	169444617	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169444617C>T	uc001ghk.1	+	c.1317C>T	c.(1315-1317)CTC>CTT	p.L439L		NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	439					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.451271	599.855715	600.838913	213	259	CC		KEEP	---	---	---	---	capture			Silent	SNP	169444617	169444617	6197	1	C	T	T	31	31	FMO2	T	1	1
FMO1	2326	broad.mit.edu	36	1	169511146	169511146	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169511146C>A	uc009wvz.1	+	c.359C>A	c.(358-360)GCT>GAT	p.A120D	FMO1_uc001ghl.1_Missense_Mutation_p.A120D|FMO1_uc001ghm.1_Missense_Mutation_p.A120D|FMO1_uc001ghn.1_Missense_Mutation_p.A120D	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	120					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				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.155556	57.06631	82.576755	35	190	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	169511146	169511146	6196	1	C	A	A	28	28	FMO1	A	3	3
BAT2L2	23215	broad.mit.edu	36	1	169773084	169773084	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169773084T>G	uc001ghs.1	+	c.2346T>G	c.(2344-2346)AGT>AGG	p.S782R	BAT2L2_uc009wwa.1_5'Flank	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	782							protein C-terminus binding				0														0.233333	18.110215	20.062462	7	23	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	169773084	169773084	1342	1	T	G	G	60	60	BAT2L2	G	4	4
MYOC	4653	broad.mit.edu	36	1	169888241	169888241	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169888241C>T	uc001ghu.1	-	c.134G>A	c.(133-135)GGC>GAC	p.G45D		NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin	45					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)													0.402062	106.794826	107.61096	39	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	169888241	169888241	10481	1	C	T	T	26	26	MYOC	T	2	2
METTL13	51603	broad.mit.edu	36	1	170019871	170019871	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:170019871C>T	uc001ghz.1	+	c.522C>T	c.(520-522)TTC>TTT	p.F174F	METTL13_uc001gia.1_Silent_p.F88F|METTL13_uc001gib.1_Intron	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	174							methyltransferase activity|protein binding			kidney(1)	1														0.455224	175.552452	175.786853	61	73	CC		KEEP	---	---	---	---	capture			Silent	SNP	170019871	170019871	9887	1	C	T	T	32	32	METTL13	T	2	2
C1orf9	51430	broad.mit.edu	36	1	170824810	170824810	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:170824810G>A	uc001giq.2	+	c.1946G>A	c.(1945-1947)CGA>CAA	p.R649Q	C1orf9_uc009wwd.1_Missense_Mutation_p.R605Q	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	649					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)				Colon(43;174 953 11768 38880 47057)								0.417722	91.168428	91.632884	33	46	GG		KEEP	---	---	---	---	capture		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	Missense_Mutation	SNP	170824810	170824810	2143	1	G	A	A	37	37	C1orf9	A	1	1
TNFSF18	8995	broad.mit.edu	36	1	171277219	171277219	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:171277219C>A	uc001giu.2	-	c.511G>T	c.(511-513)GAC>TAC	p.D171Y		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily,	171	Extracellular (Potential).				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)	1														0.404762	270.374902	272.379396	102	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171277219	171277219	16850	1	C	A	A	32	32	TNFSF18	A	3	3
CROCC	9696	broad.mit.edu	36	1	17130446	17130446	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17130446G>A	uc001azt.2	+	c.923G>A	c.(922-924)CGG>CAG	p.R308Q	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Missense_Mutation_p.R71Q	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	308					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)												0.454545	229.102849	229.399932	75	90	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	Missense_Mutation	SNP	17130446	17130446	4032	1	G	A	A	39	39	CROCC	A	1	1
CROCC	9696	broad.mit.edu	36	1	17139025	17139025	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17139025G>A	uc001azt.2	+	c.1658G>A	c.(1657-1659)CGG>CAG	p.R553Q	CROCC_uc009voy.1_Missense_Mutation_p.R256Q|CROCC_uc001azu.2_5'UTR|CROCC_uc009voz.1_Missense_Mutation_p.R316Q	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	553	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)												0.389313	143.874191	145.28629	51	80	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	Missense_Mutation	SNP	17139025	17139025	4032	1	G	A	A	39	39	CROCC	A	1	1
CROCC	9696	broad.mit.edu	36	1	17139104	17139104	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17139104C>T	uc001azt.2	+	c.1737C>T	c.(1735-1737)GGC>GGT	p.G579G	CROCC_uc009voy.1_Silent_p.G282G|CROCC_uc001azu.2_5'UTR|CROCC_uc009voz.1_Silent_p.G342G	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	579	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)												0.217391	20.830358	24.214846	10	36	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	Silent	SNP	17139104	17139104	4032	1	C	T	T	27	27	CROCC	T	1	1
TNFSF4	7292	broad.mit.edu	36	1	171422563	171422563	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:171422563C>A	uc001giw.1	-	c.267G>T	c.(265-267)CAG>CAT	p.Q89H	TNFSF4_uc001giv.1_Missense_Mutation_p.Q39H	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	89	Extracellular (Potential).				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of gene-specific transcription|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1														0.395939	200.453921	202.335743	78	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171422563	171422563	16851	1	C	A	A	32	32	TNFSF4	A	3	3
CROCC	9696	broad.mit.edu	36	1	17169440	17169440	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17169440G>A	uc001azt.2	+	c.5557G>A	c.(5557-5559)GCC>ACC	p.A1853T	CROCC_uc001azu.2_Missense_Mutation_p.A1156T|CROCC_uc001azv.2_Missense_Mutation_p.A189T	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1853					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)												0.222222	6.887151	8.16919	4	14	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	Missense_Mutation	SNP	17169440	17169440	4032	1	G	A	A	38	38	CROCC	A	1	1
SLC9A11	284525	broad.mit.edu	36	1	171835933	171835933	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:171835933C>T	uc001giz.1	-	c.174G>A	c.(172-174)ACG>ACA	p.T58T		NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	58	Helical; (Potential).				sodium ion transport	integral to membrane	solute:hydrogen antiporter activity			ovary(2)	2														0.193103	55.114547	67.866436	28	117	CC		KEEP	---	---	---	---	capture			Silent	SNP	171835933	171835933	15208	1	C	T	T	31	31	SLC9A11	T	1	1
ATP13A2	23400	broad.mit.edu	36	1	17190892	17190892	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17190892C>A	uc001baa.1	-	c.2175G>T	c.(2173-2175)AGG>AGT	p.R725S	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.1_Missense_Mutation_p.R720S|ATP13A2_uc001bac.1_Missense_Mutation_p.R720S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	725	Cytoplasmic (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(1)|central_nervous_system(1)|skin(1)	3		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.185185	66.431959	86.47349	40	176	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Missense_Mutation	SNP	17190892	17190892	1143	1	C	A	A	30	30	ATP13A2	A	3	3
KLHL20	27252	broad.mit.edu	36	1	171969521	171969521	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:171969521C>T	uc001gjc.1	+	c.70C>T	c.(70-72)CGC>TGC	p.R24C	KLHL20_uc009wwf.1_Missense_Mutation_p.R6C|KLHL20_uc001gjd.2_Missense_Mutation_p.R24C	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	24					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						GBM(159;862 2695 6559 23041)								0.211957	83.645004	97.746412	39	145	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171969521	171969521	8687	1	C	T	T	23	23	KLHL20	T	1	1
KLHL20	27252	broad.mit.edu	36	1	171987604	171987604	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:171987604C>T	uc001gjc.1	+	c.676C>T	c.(676-678)CGC>TGC	p.R226C	KLHL20_uc009wwf.1_Missense_Mutation_p.R208C	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	226	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						GBM(159;862 2695 6559 23041)								0.406897	162.397463	163.495179	59	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171987604	171987604	8687	1	C	T	T	31	31	KLHL20	T	1	1
KLHL20	27252	broad.mit.edu	36	1	172002051	172002051	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:172002051G>T	uc001gjc.1	+	c.1295G>T	c.(1294-1296)AGG>ATG	p.R432M	KLHL20_uc009wwf.1_Missense_Mutation_p.R414M	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	432	Kelch 3.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						GBM(159;862 2695 6559 23041)								0.209497	155.044936	183.000968	75	283	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	172002051	172002051	8687	1	G	T	T	35	35	KLHL20	T	3	3
ATP13A2	23400	broad.mit.edu	36	1	17203443	17203443	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17203443G>A	uc001baa.1	-	c.528C>T	c.(526-528)ATC>ATT	p.I176I	ATP13A2_uc001bab.1_Silent_p.I171I|ATP13A2_uc001bac.1_Silent_p.I171I	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	176	Cytoplasmic (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(1)|central_nervous_system(1)|skin(1)	3		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.392157	53.186804	53.706569	20	31	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Silent	SNP	17203443	17203443	1143	1	G	A	A	37	37	ATP13A2	A	1	1
ATP13A2	23400	broad.mit.edu	36	1	17204852	17204852	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17204852G>A	uc001baa.1	-	c.19C>T	c.(19-21)CCT>TCT	p.P7S	ATP13A2_uc001bab.1_Missense_Mutation_p.P7S|ATP13A2_uc001bac.1_Missense_Mutation_p.P7S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	7	Cytoplasmic (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(1)|central_nervous_system(1)|skin(1)	3		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.3	42.209681	43.994203	15	35	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Missense_Mutation	SNP	17204852	17204852	1143	1	G	A	A	43	43	ATP13A2	A	2	2
DARS2	55157	broad.mit.edu	36	1	172093427	172093427	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:172093427C>T	uc001gjh.1	+	c.1899C>T	c.(1897-1899)GTC>GTT	p.V633V	DARS2_uc009wwh.1_Silent_p.V178V	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	633					aspartyl-tRNA aminoacylation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)									0.186813	67.948293	84.669132	34	148	CC		KEEP	---	---	---	---	capture			Silent	SNP	172093427	172093427	4409	1	C	T	T	32	32	DARS2	T	2	2
ZBTB37	84614	broad.mit.edu	36	1	172106236	172106236	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:172106236C>A	uc009wwp.1	+	c.250C>A	c.(250-252)CTT>ATT	p.L84I	GAS5_uc001gjj.1_5'Flank|GAS5_uc001gjk.1_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.L84I|ZBTB37_uc001gjq.2_Missense_Mutation_p.L84I|ZBTB37_uc001gjr.1_Missense_Mutation_p.L84I	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37 isoform	84	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.216561	66.662652	78.304395	34	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	172106236	172106236	18124	1	C	A	A	24	24	ZBTB37	A	3	3
SERPINC1	462	broad.mit.edu	36	1	172147702	172147702	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:172147702C>T	uc001gjt.1	-	c.482G>A	c.(481-483)CGA>CAA	p.R161Q		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	161		Heparin.	R -> Q (in AT3D; type-II; Geneva).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)									0.174468	73.132349	96.633935	41	194	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	172147702	172147702	14597	1	C	T	T	31	31	SERPINC1	T	1	1
SDHB	6390	broad.mit.edu	36	1	17227733	17227733	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17227733G>T	uc001bae.1	-	c.372C>A	c.(370-372)GTC>GTA	p.V124V		NM_003000	NP_002991	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron	124	2Fe-2S ferredoxin-type.				respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)			Succinic acid(DB00139)					74				0.451613	224.051531	224.433897	84	102	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Silent	SNP	17227733	17227733	14451	1	G	T	T	33	33	SDHB	T	3	3
RABGAP1L	9910	broad.mit.edu	36	1	172514482	172514482	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:172514482G>A	uc001gjx.1	+	c.1265G>A	c.(1264-1266)CGA>CAA	p.R422Q	RABGAP1L_uc009wwq.1_Missense_Mutation_p.R434Q|RABGAP1L_uc001gjw.2_Missense_Mutation_p.R385Q|RABGAP1L_uc001gjy.2_Missense_Mutation_p.R90Q|RABGAP1L_uc001gjz.2_Missense_Mutation_p.R69Q	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	422					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4														0.177049	96.757085	126.739467	54	251	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	172514482	172514482	13424	1	G	A	A	37	37	RABGAP1L	A	1	1
TNN	63923	broad.mit.edu	36	1	173315180	173315180	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:173315180C>T	uc001gkl.1	+	c.498C>T	c.(496-498)TGC>TGT	p.C166C		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N	166					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)								470				0.25	15.41545	17.004016	7	21	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	Silent	SNP	173315180	173315180	16864	1	C	T	T	27	27	TNN	T	1	1
TNN	63923	broad.mit.edu	36	1	173334110	173334110	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:173334110C>T	uc001gkl.1	+	c.1875C>T	c.(1873-1875)AAC>AAT	p.N625N		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N	625	Fibronectin type-III 5.				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)								470				0.418398	394.730508	396.683878	141	196	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	Silent	SNP	173334110	173334110	16864	1	C	T	T	18	18	TNN	T	2	2
TNN	63923	broad.mit.edu	36	1	173363841	173363841	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:173363841G>A	uc001gkl.1	+	c.3096G>A	c.(3094-3096)GAG>GAA	p.E1032E		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N	1032	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)								470				0.222772	95.957321	110.247379	45	157	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	Silent	SNP	173363841	173363841	16864	1	G	A	A	34	34	TNN	A	2	2
TNN	63923	broad.mit.edu	36	1	173364378	173364378	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:173364378C>T	uc001gkl.1	+	c.3203C>T	c.(3202-3204)TCG>TTG	p.S1068L		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N	1068	Fibrinogen C-terminal.				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)								470				0.457338	366.095244	366.561003	134	159	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	Missense_Mutation	SNP	173364378	173364378	16864	1	C	T	T	31	31	TNN	T	1	1
TNR	7143	broad.mit.edu	36	1	173559136	173559136	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:173559136G>A	uc001gkp.1	-	c.4057C>T	c.(4057-4059)CGG>TGG	p.R1353W	TNR_uc009wwu.1_Missense_Mutation_p.R1353W	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R	1353					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.46696	274.01782	274.238867	106	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	173559136	173559136	16879	1	G	A	A	40	40	TNR	A	1	1
TNR	7143	broad.mit.edu	36	1	173615452	173615452	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:173615452T>C	uc001gkp.1	-	c.1822A>G	c.(1822-1824)ACC>GCC	p.T608A	TNR_uc009wwu.1_Missense_Mutation_p.T608A	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R	608	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.409836	167.441831	168.303975	50	72	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	173615452	173615452	16879	1	T	C	C	60	60	TNR	C	4	4
GNB1	2782	broad.mit.edu	36	1	1737060	1737060	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1737060G>A	uc001aif.1	-	c.198C>T	c.(196-198)GAC>GAT	p.D66D	GNB1_uc009vky.1_Intron	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	66	WD 1.				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)												0.184211	29.401086	36.514158	14	62	GG		KEEP	---	---	---	---	capture		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	Silent	SNP	1737060	1737060	6784	1	G	A	A	36	36	GNB1	A	2	2
PAPPA2	60676	broad.mit.edu	36	1	174934885	174934885	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:174934885G>A	uc001gkz.1	+	c.2773G>A	c.(2773-2775)GAG>AAG	p.E925K	PAPPA2_uc009www.1_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	925					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.189189	91.719317	115.136201	49	210	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	174934885	174934885	11850	1	G	A	A	37	37	PAPPA2	A	1	1
PAPPA2	60676	broad.mit.edu	36	1	174935067	174935067	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:174935067G>T	uc001gkz.1	+	c.2955G>T	c.(2953-2955)GAG>GAT	p.E985D	PAPPA2_uc009www.1_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	985					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.209493	242.298068	290.098552	128	483	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	174935067	174935067	11850	1	G	T	T	33	33	PAPPA2	T	3	3
FAM5B	57795	broad.mit.edu	36	1	175491775	175491775	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:175491775C>T	uc001glf.1	+	c.367C>T	c.(367-369)CGC>TGC	p.R123C	FAM5B_uc001glg.1_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	123						extracellular region				ovary(2)	2												OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.465839	212.407537	212.570882	75	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	175491775	175491775	5816	1	C	T	T	31	31	FAM5B	T	1	1
FAM5B	57795	broad.mit.edu	36	1	175511961	175511961	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:175511961T>G	uc001glf.1	+	c.780T>G	c.(778-780)CTT>CTG	p.L260L	FAM5B_uc001glg.1_Silent_p.L155L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	260						extracellular region				ovary(2)	2														0.163934	62.412713	82.093137	30	153	TT		KEEP	---	---	---	---	capture			Silent	SNP	175511961	175511961	5816	1	T	G	G	62	62	FAM5B	G	4	4
FAM5B	57795	broad.mit.edu	36	1	175517145	175517145	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:175517145G>A	uc001glf.1	+	c.2210G>A	c.(2209-2211)CGA>CAA	p.R737Q	FAM5B_uc001glg.1_Missense_Mutation_p.R632Q	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	737						extracellular region				ovary(2)	2														0.467662	260.013004	260.196978	94	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	175517145	175517145	5816	1	G	A	A	37	37	FAM5B	A	1	1
PADI4	23569	broad.mit.edu	36	1	17555470	17555470	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17555470C>T	uc001baj.1	+	c.1487C>T	c.(1486-1488)TCC>TTC	p.S496F		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	496					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)			L-Citrulline(DB00155)									0.181818	22.718882	30.03518	14	63	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	Missense_Mutation	SNP	17555470	17555470	11796	1	C	T	T	30	30	PADI4	T	2	2
PADI4	23569	broad.mit.edu	36	1	17558442	17558442	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17558442C>A	uc001baj.1	+	c.1710C>A	c.(1708-1710)CTC>CTA	p.L570L		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	570					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)			L-Citrulline(DB00155)									0.438679	245.390165	246.09272	93	119	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	Silent	SNP	17558442	17558442	11796	1	C	A	A	32	32	PADI4	A	3	3
RCC2	55920	broad.mit.edu	36	1	17628212	17628212	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17628212C>T	uc001bal.1	-	c.356G>A	c.(355-357)CGA>CAA	p.R119Q	RCC2_uc001bam.1_Missense_Mutation_p.R119Q	NM_018715	NP_061185	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	119	RCC1 1.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)												0.3875	168.458649	170.249588	62	98	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Missense_Mutation	SNP	17628212	17628212	13643	1	C	T	T	31	31	RCC2	T	1	1
RASAL2	9462	broad.mit.edu	36	1	176677382	176677382	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:176677382C>T	uc001glp.1	+	c.850C>T	c.(850-852)CGC>TGC	p.R284C	RASAL2_uc001glq.1_Missense_Mutation_p.R284C|RASAL2_uc001glr.1_Missense_Mutation_p.R154C	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	154	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5														0.205357	48.064005	57.082172	23	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	176677382	176677382	13525	1	C	T	T	31	31	RASAL2	T	1	1
RASAL2	9462	broad.mit.edu	36	1	176678760	176678760	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:176678760A>G	uc001glp.1	+	c.1201A>G	c.(1201-1203)ACA>GCA	p.T401A	RASAL2_uc001glq.1_Missense_Mutation_p.T401A|RASAL2_uc001glr.1_Missense_Mutation_p.T271A	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	271					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5														0.470588	248.006066	248.119573	72	81	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	176678760	176678760	13525	1	A	G	G	14	14	RASAL2	G	4	4
ANGPTL1	9068	broad.mit.edu	36	1	177101061	177101061	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177101061G>A	uc001gma.1	-	c.474C>T	c.(472-474)ATC>ATT	p.I158I	RALGPS2_uc001glz.1_Intron|RALGPS2_uc001gly.1_Intron|ANGPTL1_uc001gmb.1_Silent_p.I158I	NM_004673	NP_004664	O95841	ANGL1_HUMAN	angiopoietin-like 1 precursor	158	Potential.					extracellular space	receptor binding				0														0.495327	156.564429	156.566555	53	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	177101061	177101061	616	1	G	A	A	41	41	ANGPTL1	A	2	2
RALGPS2	55103	broad.mit.edu	36	1	177128032	177128032	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177128032G>A	uc001glz.1	+	c.1292G>A	c.(1291-1293)CGA>CAA	p.R431Q		NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	431					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0														0.434343	240.403474	241.149542	86	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	177128032	177128032	13478	1	G	A	A	37	37	RALGPS2	A	1	1
TOR3A	64222	broad.mit.edu	36	1	177318774	177318774	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177318774C>T	uc001gmd.1	+	c.336C>T	c.(334-336)TGC>TGT	p.C112C	TOR3A_uc001gme.1_Non-coding_Transcript	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	torsin family 3, member A	112					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			pancreas(1)	1														0.529412	52.342036	52.367028	18	16	CC		KEEP	---	---	---	---	capture			Silent	SNP	177318774	177318774	16918	1	C	T	T	26	26	TOR3A	T	2	2
SOAT1	6646	broad.mit.edu	36	1	177576924	177576924	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177576924G>T	uc001gml.1	+	c.636G>T	c.(634-636)AAG>AAT	p.K212N	SOAT1_uc001gmm.1_Missense_Mutation_p.K154N	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	212					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)	1					Ezetimibe(DB00973)|Hesperetin(DB01094)									0.161538	127.631965	184.351692	84	436	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	177576924	177576924	15410	1	G	T	T	33	33	SOAT1	T	3	3
C1orf125	126859	broad.mit.edu	36	1	177727315	177727315	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177727315C>T	uc001gmo.1	+	c.2111C>T	c.(2110-2112)TCT>TTT	p.S704F	C1orf125_uc009wxg.1_Non-coding_Transcript|C1orf125_uc001gmp.1_Missense_Mutation_p.S704F|C1orf125_uc009wxh.1_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	704											0														0.212766	88.688615	103.029007	40	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	177727315	177727315	2060	1	C	T	T	32	32	C1orf125	T	2	2
C1orf125	126859	broad.mit.edu	36	1	177770663	177770663	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177770663C>T	uc001gmo.1	+	c.2974C>T	c.(2974-2976)CAA>TAA	p.Q992*	C1orf125_uc009wxg.1_Non-coding_Transcript|C1orf125_uc001gmp.1_Nonsense_Mutation_p.Q918*|C1orf125_uc009wxh.1_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	992	Glu-rich.										0														0.206522	35.766148	43.119937	19	73	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	177770663	177770663	2060	1	C	T	T	17	17	C1orf125	T	5	2
TDRD5	163589	broad.mit.edu	36	1	177886722	177886722	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177886722A>G	uc001gng.1	+	c.1898A>G	c.(1897-1899)AAC>AGC	p.N633S	TDRD5_uc001gnf.1_Missense_Mutation_p.N633S|TDRD5_uc001gnh.1_Missense_Mutation_p.N188S	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	633					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.467949	493.043141	493.320345	146	166	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	177886722	177886722	16260	1	A	G	G	2	2	TDRD5	G	4	4
TDRD5	163589	broad.mit.edu	36	1	177887848	177887848	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177887848C>T	uc001gng.1	+	c.2053C>T	c.(2053-2055)CCA>TCA	p.P685S	TDRD5_uc001gnf.1_Missense_Mutation_p.P685S|TDRD5_uc001gnh.1_Missense_Mutation_p.P240S	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	685					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.41573	204.004166	205.110656	74	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	177887848	177887848	16260	1	C	T	T	26	26	TDRD5	T	2	2
TDRD5	163589	broad.mit.edu	36	1	177904980	177904980	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177904980C>A	uc001gng.1	+	c.2678C>A	c.(2677-2679)TCT>TAT	p.S893Y	TDRD5_uc001gnf.1_Missense_Mutation_p.S839Y|TDRD5_uc001gnh.1_Missense_Mutation_p.S394Y	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	862					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.432343	345.48621	346.71078	131	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	177904980	177904980	16260	1	C	A	A	32	32	TDRD5	A	3	3
TOR1AIP1	26092	broad.mit.edu	36	1	178153950	178153950	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:178153950C>A	uc001gnq.1	+	c.1705C>A	c.(1705-1707)CTG>ATG	p.L569M		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	569	Lumenal (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2														0.467532	197.566988	197.709844	72	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	178153950	178153950	16914	1	C	A	A	32	32	TOR1AIP1	A	3	3
ARHGEF10L	55160	broad.mit.edu	36	1	17822127	17822127	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17822127G>A	uc001ban.1	+	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.R318H|ARHGEF10L_uc001bao.1_Missense_Mutation_p.R318H|ARHGEF10L_uc001bap.1_Missense_Mutation_p.R318H|ARHGEF10L_uc001baq.1_Missense_Mutation_p.R123H|ARHGEF10L_uc001bar.1_Missense_Mutation_p.R135H|ARHGEF10L_uc009vpf.1_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	357	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)												0.449153	143.052126	143.318307	53	65	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	Missense_Mutation	SNP	17822127	17822127	909	1	G	A	A	38	38	ARHGEF10L	A	1	1
CEP350	9857	broad.mit.edu	36	1	178250093	178250093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:178250093C>T	uc001gnt.1	+	c.1882C>T	c.(1882-1884)CGA>TGA	p.R628*	CEP350_uc001gnu.1_Nonsense_Mutation_p.R462*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	628	Potential.					centrosome|nucleus|spindle				ovary(4)	4														0.461538	32.799028	32.832144	12	14	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	178250093	178250093	3387	1	C	T	T	19	19	CEP350	T	5	1
CEP350	9857	broad.mit.edu	36	1	178278852	178278852	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:178278852C>T	uc001gnt.1	+	c.4401C>T	c.(4399-4401)GTC>GTT	p.V1467V		NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1467						centrosome|nucleus|spindle				ovary(4)	4														0.178947	93.251317	120.902016	51	234	CC		KEEP	---	---	---	---	capture			Silent	SNP	178278852	178278852	3387	1	C	T	T	31	31	CEP350	T	1	1
LHX4	89884	broad.mit.edu	36	1	178502311	178502311	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:178502311G>A	uc001goe.1	+	c.410G>A	c.(409-411)CGG>CAG	p.R137Q		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	137	LIM zinc-binding 2.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(1)	1														0.538462	151.773165	151.889654	49	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	178502311	178502311	9099	1	G	A	A	39	39	LHX4	A	1	1
XPR1	9213	broad.mit.edu	36	1	179039245	179039245	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179039245C>T	uc001goi.1	+	c.322C>T	c.(322-324)CGA>TGA	p.R108*	XPR1_uc009wxm.1_Nonsense_Mutation_p.R108*|XPR1_uc009wxn.1_Nonsense_Mutation_p.R108*	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	108	SPX.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0														0.448	459.827531	460.712627	168	207	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	179039245	179039245	18034	1	C	T	T	27	27	XPR1	T	5	1
XPR1	9213	broad.mit.edu	36	1	179061030	179061030	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179061030T>G	uc001goi.1	+	c.1061T>G	c.(1060-1062)TTT>TGT	p.F354C	XPR1_uc009wxm.1_Missense_Mutation_p.F354C|XPR1_uc009wxn.1_Missense_Mutation_p.F354C	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	354	Helical; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0														0.478936	726.0915	726.264611	216	235	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179061030	179061030	18034	1	T	G	G	64	64	XPR1	G	4	4
KIAA1614	57710	broad.mit.edu	36	1	179171636	179171636	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179171636C>T	uc001gok.2	+	c.1968C>T	c.(1966-1968)GGC>GGT	p.G656G	KIAA1614_uc001gol.1_Silent_p.G277G|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	656										ovary(3)	3														0.52381	150.415088	150.466707	55	50	CC		KEEP	---	---	---	---	capture			Silent	SNP	179171636	179171636	8557	1	C	T	T	26	26	KIAA1614	T	2	2
KIAA1614	57710	broad.mit.edu	36	1	179181206	179181206	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179181206C>T	uc001gok.2	+	c.3432C>T	c.(3430-3432)TTC>TTT	p.F1144F	KIAA1614_uc001gol.1_Silent_p.F765F|KIAA1614_uc001gom.1_Silent_p.F235F|STX6_uc009wxo.1_Non-coding_Transcript	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	1144										ovary(3)	3														0.414414	124.330753	125.039815	46	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	179181206	179181206	8557	1	C	T	T	31	31	KIAA1614	T	1	1
MR1	3140	broad.mit.edu	36	1	179284880	179284880	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179284880C>T	uc001goq.1	+	c.137C>T	c.(136-138)TCG>TTG	p.S46L	MR1_uc001gop.2_Missense_Mutation_p.S46L|MR1_uc001gor.1_Missense_Mutation_p.S46L|MR1_uc001gos.1_Missense_Mutation_p.S46L	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	46	Extracellular (Potential).|Ligand-binding.|Alpha-1.				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				0						Colon(174;1412 1962 45296 46549 47110)								0.238095	55.565037	62.116177	25	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179284880	179284880	10144	1	C	T	T	31	31	MR1	T	1	1
MR1	3140	broad.mit.edu	36	1	179284974	179284974	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179284974G>A	uc001goq.1	+	c.231G>A	c.(229-231)GCG>GCA	p.A77A	MR1_uc001gop.2_Silent_p.A77A|MR1_uc001gor.1_Silent_p.A77A|MR1_uc001gos.1_Silent_p.A77A	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	77	Extracellular (Potential).|Ligand-binding.|Alpha-1.				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				0						Colon(174;1412 1962 45296 46549 47110)								0.231579	44.351471	50.589694	22	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	179284974	179284974	10144	1	G	A	A	38	38	MR1	A	1	1
CACNA1E	777	broad.mit.edu	36	1	179946808	179946808	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179946808G>A	uc001gow.1	+	c.1151G>A	c.(1150-1152)CGT>CAT	p.R384H	CACNA1E_uc009wxs.1_Missense_Mutation_p.R291H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	384	Cytoplasmic (Potential).|Binding to the beta subunit (By similarity).				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														0.216049	69.729822	81.790217	35	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179946808	179946808	2658	1	G	A	A	40	40	CACNA1E	A	1	1
CACNA1E	777	broad.mit.edu	36	1	179956004	179956004	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179956004G>A	uc001gow.1	+	c.1791G>A	c.(1789-1791)ATG>ATA	p.M597I	CACNA1E_uc009wxs.1_Missense_Mutation_p.M504I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	597	Cytoplasmic (Potential).|II.				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														0.201754	46.853721	56.283124	23	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179956004	179956004	2658	1	G	A	A	45	45	CACNA1E	A	2	2
CACNA1E	777	broad.mit.edu	36	1	179991132	179991132	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179991132C>T	uc001gow.1	+	c.3965C>T	c.(3964-3966)TCC>TTC	p.S1322F	CACNA1E_uc009wxs.1_Missense_Mutation_p.S1210F|CACNA1E_uc001gox.1_Missense_Mutation_p.S548F|CACNA1E_uc009wxt.1_Missense_Mutation_p.S548F	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1322	Extracellular (Potential).|III.				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														0.402145	430.277636	433.399305	150	223	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179991132	179991132	2658	1	C	T	T	30	30	CACNA1E	T	2	2
CACNA1E	777	broad.mit.edu	36	1	179993840	179993840	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179993840C>T	uc001gow.1	+	c.4464C>T	c.(4462-4464)ATC>ATT	p.I1488I	CACNA1E_uc009wxs.1_Silent_p.I1376I|CACNA1E_uc001gox.1_Silent_p.I714I|CACNA1E_uc009wxt.1_Silent_p.I714I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1488	Helical; Name=S1 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														0.48	204.381602	204.434131	72	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	179993840	179993840	2658	1	C	T	T	31	31	CACNA1E	T	1	1
CACNA1E	777	broad.mit.edu	36	1	179994614	179994614	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179994614C>T	uc001gow.1	+	c.4592C>T	c.(4591-4593)GCT>GTT	p.A1531V	CACNA1E_uc009wxs.1_Missense_Mutation_p.A1419V|CACNA1E_uc001gox.1_Missense_Mutation_p.A757V|CACNA1E_uc009wxt.1_Missense_Mutation_p.A757V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1531	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														0.183246	75.3097	93.298344	35	156	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179994614	179994614	2658	1	C	T	T	28	28	CACNA1E	T	2	2
CACNA1E	777	broad.mit.edu	36	1	180007952	180007952	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:180007952G>A	uc001gow.1	+	c.5101G>A	c.(5101-5103)GTG>ATG	p.V1701M	CACNA1E_uc009wxs.1_Missense_Mutation_p.V1589M|CACNA1E_uc001gox.1_Missense_Mutation_p.V927M|CACNA1E_uc009wxt.1_Missense_Mutation_p.V927M	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1701	IV.|Helical; Name=S6 of repeat 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														0.178363	107.503367	140.791044	61	281	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	180007952	180007952	2658	1	G	A	A	40	40	CACNA1E	A	1	1
ACTL8	81569	broad.mit.edu	36	1	18022107	18022107	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18022107T>C	uc001bat.1	+	c.17T>C	c.(16-18)GTT>GCT	p.V6A		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	6						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)												0.189474	37.174421	45.783899	18	77	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	Missense_Mutation	SNP	18022107	18022107	203	1	T	C	C	60	60	ACTL8	C	4	4
ACTL8	81569	broad.mit.edu	36	1	18024891	18024891	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18024891G>A	uc001bat.1	+	c.391G>A	c.(391-393)GAC>AAC	p.D131N		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	131						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)										OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.513274	167.651599	167.669122	58	55	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	Missense_Mutation	SNP	18024891	18024891	203	1	G	A	A	37	37	ACTL8	A	1	1
RGS8	85397	broad.mit.edu	36	1	180882517	180882517	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:180882517G>A	uc001gpm.1	-	c.573C>T	c.(571-573)TCC>TCT	p.S191S	RGS8_uc001gpn.1_Silent_p.S173S	NM_033345	NP_203131	P57771	RGS8_HUMAN	regulator of G-protein signalling 8 isoform 1	173					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1						Ovarian(189;1262 3804 41973)								0.225352	148.849748	168.531146	64	220	GG		KEEP	---	---	---	---	capture			Silent	SNP	180882517	180882517	13786	1	G	A	A	43	43	RGS8	A	2	2
DHX9	1660	broad.mit.edu	36	1	181111847	181111847	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181111847G>T	uc001gpr.1	+	c.1855G>T	c.(1855-1857)GAA>TAA	p.E619*	DHX9_uc001gps.1_Nonsense_Mutation_p.E405*|DHX9_uc001gpt.1_5'Flank	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	619					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						Colon(69;210 1162 3697 13559 39565)								0.17284	70.581108	95.170052	42	201	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	181111847	181111847	4695	1	G	T	T	33	33	DHX9	T	5	3
DHX9	1660	broad.mit.edu	36	1	181113922	181113922	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181113922G>A	uc001gpr.1	+	c.2342G>A	c.(2341-2343)CGT>CAT	p.R781H	DHX9_uc001gps.1_Missense_Mutation_p.R567H|DHX9_uc001gpt.1_Missense_Mutation_p.R60H	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	781	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						Colon(69;210 1162 3697 13559 39565)								0.203704	64.4793	77.689079	33	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181113922	181113922	4695	1	G	A	A	40	40	DHX9	A	1	1
C1orf14	81626	broad.mit.edu	36	1	181165418	181165418	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181165418A>G	uc001gpu.1	-	c.1169T>C	c.(1168-1170)ATG>ACG	p.M390T	C1orf14_uc001gpv.1_Missense_Mutation_p.M271T|C1orf14_uc001gpw.1_Missense_Mutation_p.M110T	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	462											0														0.408163	113.784576	114.505528	40	58	AA		KEEP	---	---	---	---	capture		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	Missense_Mutation	SNP	181165418	181165418	2067	1	A	G	G	8	8	C1orf14	G	4	4
C1orf14	81626	broad.mit.edu	36	1	181176133	181176133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181176133G>A	uc001gpu.1	-	c.724C>T	c.(724-726)CAA>TAA	p.Q242*	C1orf14_uc001gpv.1_Nonsense_Mutation_p.Q123*|C1orf14_uc001gpw.1_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	314											0														0.41048	249.085142	250.693144	94	135	GG		KEEP	---	---	---	---	capture		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	Nonsense_Mutation	SNP	181176133	181176133	2067	1	G	A	A	48	48	C1orf14	A	5	2
C1orf14	81626	broad.mit.edu	36	1	181188519	181188519	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181188519G>T	uc001gpu.1	-	c.373C>A	c.(373-375)CTG>ATG	p.L125M	C1orf14_uc001gpv.1_De_novo_Start_OutOfFrame|C1orf14_uc001gpw.1_De_novo_Start_OutOfFrame	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	197											0														0.153846	9.324522	13.793856	6	33	GG		KEEP	---	---	---	---	capture		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	Missense_Mutation	SNP	181188519	181188519	2067	1	G	T	T	34	34	C1orf14	T	3	3
LAMC1	3915	broad.mit.edu	36	1	181339294	181339294	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181339294C>T	uc001gpy.2	+	c.627C>T	c.(625-627)TTC>TTT	p.F209F	LAMC1_uc001gpx.2_Silent_p.F209F	NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	209	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.171233	40.67296	55.609243	25	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	181339294	181339294	8937	1	C	T	T	29	29	LAMC1	T	2	2
LAMC1	3915	broad.mit.edu	36	1	181346286	181346286	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181346286G>A	uc001gpy.2	+	c.895G>A	c.(895-897)GAA>AAA	p.E299K		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	299	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.481781	338.995029	339.06677	119	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181346286	181346286	8937	1	G	A	A	37	37	LAMC1	A	1	1
LAMC1	3915	broad.mit.edu	36	1	181362985	181362985	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181362985C>A	uc001gpy.2	+	c.2946C>A	c.(2944-2946)CCC>CCA	p.P982P		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	982	Laminin EGF-like 10.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.135417	15.602337	27.978462	13	83	CC		KEEP	---	---	---	---	capture			Silent	SNP	181362985	181362985	8937	1	C	A	A	24	24	LAMC1	A	3	3
LAMC2	3918	broad.mit.edu	36	1	181454222	181454222	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181454222C>T	uc001gqa.2	+	c.479C>T	c.(478-480)GCT>GTT	p.A160V	LAMC2_uc001gpz.2_Missense_Mutation_p.A160V	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	160	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			ovary(1)	1														0.212121	31.412655	36.469856	14	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181454222	181454222	8938	1	C	T	T	28	28	LAMC2	T	2	2
LAMC2	3918	broad.mit.edu	36	1	181461421	181461421	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181461421C>T	uc001gqa.2	+	c.1009C>T	c.(1009-1011)CGA>TGA	p.R337*	LAMC2_uc001gpz.2_Nonsense_Mutation_p.R337*	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	337	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			ovary(1)	1														0.421053	333.182226	334.745115	120	165	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	181461421	181461421	8938	1	C	T	T	31	31	LAMC2	T	5	1
LAMC2	3918	broad.mit.edu	36	1	181464170	181464170	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181464170G>T	uc001gqa.2	+	c.1507G>T	c.(1507-1509)GAC>TAC	p.D503Y	LAMC2_uc001gpz.2_Missense_Mutation_p.D503Y	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	503	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			ovary(1)	1												OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.357798	187.15169	191.049029	78	140	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181464170	181464170	8938	1	G	T	T	41	41	LAMC2	T	3	3
LAMC2	3918	broad.mit.edu	36	1	181479144	181479144	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181479144C>T	uc001gqa.2	+	c.3568C>T	c.(3568-3570)CTT>TTT	p.L1190F		NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1190	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			ovary(1)	1														0.18408	71.74585	90.577368	37	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181479144	181479144	8938	1	C	T	T	32	32	LAMC2	T	2	2
NMNAT2	23057	broad.mit.edu	36	1	181488443	181488443	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181488443C>T	uc001gqc.1	-	c.880G>A	c.(880-882)GAC>AAC	p.D294N	NMNAT2_uc001gqb.1_Missense_Mutation_p.D289N|NMNAT2_uc009wye.1_Non-coding_Transcript	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	nicotinamide mononucleotide adenylyltransferase	294					NAD biosynthetic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0														0.449339	281.428127	281.933241	102	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181488443	181488443	10902	1	C	T	T	31	31	NMNAT2	T	1	1
SMG7	9887	broad.mit.edu	36	1	181764734	181764734	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181764734C>T	uc001gqf.2	+	c.641C>T	c.(640-642)GCT>GTT	p.A214V	SMG7_uc001gqh.1_Missense_Mutation_p.A214V|SMG7_uc001gqg.1_Missense_Mutation_p.A214V|SMG7_uc001gqi.1_Missense_Mutation_p.A172V	NM_201568	NP_963862	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 2	214	TPR 2.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			central_nervous_system(1)	1														0.252492	187.2552	204.002245	76	225	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181764734	181764734	15296	1	C	T	T	28	28	SMG7	T	2	2
RGL1	23179	broad.mit.edu	36	1	182152247	182152247	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182152247A>G	uc001gqm.1	+	c.1898A>G	c.(1897-1899)GAC>GGC	p.D633G	RGL1_uc001gqo.1_Missense_Mutation_p.D598G	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	598	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			ovary(3)|breast(3)|lung(1)	7										871				0.495356	538.599449	538.605337	160	163	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	182152247	182152247	13749	1	A	G	G	10	10	RGL1	G	4	4
GLT25D2	23127	broad.mit.edu	36	1	182181290	182181290	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182181290T>G	uc001gqr.1	-	c.1168A>C	c.(1168-1170)AAT>CAT	p.N390H	GLT25D2_uc001gqq.1_Missense_Mutation_p.N127H|GLT25D2_uc001gqs.1_Missense_Mutation_p.N270H|GLT25D2_uc001gqp.1_5'UTR	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	390					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						Esophageal Squamous(10;42 606 18489 38825)								0.487342	523.000475	523.045405	154	162	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	182181290	182181290	6735	1	T	G	G	62	62	GLT25D2	G	4	4
GLT25D2	23127	broad.mit.edu	36	1	182186848	182186848	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182186848C>T	uc001gqr.1	-	c.1052G>A	c.(1051-1053)CGC>CAC	p.R351H	GLT25D2_uc001gqq.1_Missense_Mutation_p.R88H|GLT25D2_uc001gqs.1_Missense_Mutation_p.R231H	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	351					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						Esophageal Squamous(10;42 606 18489 38825)								0.242259	297.465659	330.686731	133	416	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	182186848	182186848	6735	1	C	T	T	27	27	GLT25D2	T	1	1
GLT25D2	23127	broad.mit.edu	36	1	182214243	182214243	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182214243C>T	uc001gqr.1	-	c.298G>A	c.(298-300)GAA>AAA	p.E100K	GLT25D2_uc001gqs.1_5'UTR	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	100					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						Esophageal Squamous(10;42 606 18489 38825)								0.169565	79.280979	103.047818	39	191	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	182214243	182214243	6735	1	C	T	T	32	32	GLT25D2	T	2	2
C1orf21	81563	broad.mit.edu	36	1	182713345	182713345	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182713345G>A	uc001gqv.1	+	c.79G>A	c.(79-81)GGA>AGA	p.G27R		NM_030806	NP_110433	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	27											0		Breast(1374;0.00262)												0.394231	127.45266	128.471247	41	63	GG		KEEP	---	---	---	---	capture		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)	Missense_Mutation	SNP	182713345	182713345	2097	1	G	A	A	39	39	C1orf21	A	1	1
EDEM3	80267	broad.mit.edu	36	1	182954966	182954966	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182954966G>T	uc001gqx.2	-	c.985C>A	c.(985-987)CAT>AAT	p.H329N		NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	372					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1														0.185841	117.199071	148.586245	63	276	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	182954966	182954966	5100	1	G	T	T	45	45	EDEM3	T	3	3
EDEM3	80267	broad.mit.edu	36	1	182957085	182957085	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182957085G>A	uc001gqx.2	-	c.783C>T	c.(781-783)GTC>GTT	p.V261V	EDEM3_uc001gqy.2_Silent_p.V227V	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	304					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1														0.386555	138.020226	139.363363	46	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	182957085	182957085	5100	1	G	A	A	33	33	EDEM3	A	2	2
EDEM3	80267	broad.mit.edu	36	1	182968717	182968717	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182968717G>T	uc001gqx.2	-	c.360C>A	c.(358-360)ATC>ATA	p.I120I	EDEM3_uc001gqy.2_Silent_p.I86I	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	163					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1														0.19457	82.481799	101.728892	43	178	GG		KEEP	---	---	---	---	capture			Silent	SNP	182968717	182968717	5100	1	G	T	T	45	45	EDEM3	T	3	3
EDEM3	80267	broad.mit.edu	36	1	182972787	182972787	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182972787G>A	uc001gqx.2	-	c.211C>T	c.(211-213)CTT>TTT	p.L71F	EDEM3_uc001gqy.2_Missense_Mutation_p.L37F	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	114					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1														0.409524	132.203656	132.955188	43	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	182972787	182972787	5100	1	G	A	A	33	33	EDEM3	A	2	2
EDEM3	80267	broad.mit.edu	36	1	182973420	182973420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182973420G>A	uc001gqx.2	-	c.124C>T	c.(124-126)CGA>TGA	p.R42*	EDEM3_uc001gqy.2_Nonsense_Mutation_p.R8*	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	85					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1														0.380165	125.112816	126.639625	46	75	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	182973420	182973420	5100	1	G	A	A	37	37	EDEM3	A	5	1
FAM129A	116496	broad.mit.edu	36	1	183059405	183059405	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:183059405G>A	uc001gra.1	-	c.812C>T	c.(811-813)ACG>ATG	p.T271M	FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Missense_Mutation_p.T69M|FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	271					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)	3														0.446667	186.304144	186.675428	67	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	183059405	183059405	5633	1	G	A	A	40	40	FAM129A	A	1	1
RNF2	6045	broad.mit.edu	36	1	183335568	183335568	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:183335568G>A	uc001grc.1	+	c.760G>A	c.(760-762)GCC>ACC	p.A254T	RNF2_uc001grd.1_Missense_Mutation_p.A182T|RNF2_uc001gre.1_Non-coding_Transcript	NM_007212	NP_009143	Q99496	RING2_HUMAN	ring finger protein 2	254					transcription, DNA-dependent	MLL1 complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding				0		Breast(1374;0.000496)												0.219101	83.833109	96.771991	39	139	GG		KEEP	---	---	---	---	capture		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	Missense_Mutation	SNP	183335568	183335568	13950	1	G	A	A	38	38	RNF2	A	1	1
C1orf25	81627	broad.mit.edu	36	1	183355919	183355919	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:183355919G>T	uc001grf.2	-	c.2057C>A	c.(2056-2058)TCT>TAT	p.S686Y		NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	686						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0														0.255132	190.93646	209.508932	87	254	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	183355919	183355919	2108	1	G	T	T	33	33	C1orf25	T	3	3
C1orf25	81627	broad.mit.edu	36	1	183386202	183386202	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:183386202G>T	uc001grf.2	-	c.392C>A	c.(391-393)GCT>GAT	p.A131D		NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	131						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0														0.417582	86.806783	87.348454	38	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	183386202	183386202	2108	1	G	T	T	34	34	C1orf25	T	3	3
C1orf26	54823	broad.mit.edu	36	1	183442472	183442472	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:183442472G>T	uc001grg.2	+	c.1926G>T	c.(1924-1926)AAG>AAT	p.K642N	C1orf26_uc001grh.2_Missense_Mutation_p.K642N	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	642											0														0.136364	24.157146	43.895144	21	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	183442472	183442472	2109	1	G	T	T	33	33	C1orf26	T	3	3
HMCN1	83872	broad.mit.edu	36	1	184159160	184159160	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184159160T>C	uc001grq.1	+	c.1037T>C	c.(1036-1038)GTA>GCA	p.V346A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	346					bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.259843	93.728955	100.353	33	94	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184159160	184159160	7511	1	T	C	C	57	57	HMCN1	C	4	4
HMCN1	83872	broad.mit.edu	36	1	184159375	184159375	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184159375G>T	uc001grq.1	+	c.1252G>T	c.(1252-1254)GTA>TTA	p.V418L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	418					bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.209524	98.775237	115.18271	44	166	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184159375	184159375	7511	1	G	T	T	36	36	HMCN1	T	3	3
HMCN1	83872	broad.mit.edu	36	1	184219937	184219937	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184219937C>A	uc001grq.1	+	c.2804C>A	c.(2803-2805)CCT>CAT	p.P935H	HMCN1_uc001grr.1_Missense_Mutation_p.P276H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	935	Ig-like C2-type 6.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.221106	94.281252	108.539705	44	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184219937	184219937	7511	1	C	A	A	24	24	HMCN1	A	3	3
HMCN1	83872	broad.mit.edu	36	1	184293121	184293121	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184293121C>T	uc001grq.1	+	c.7277C>T	c.(7276-7278)CCT>CTT	p.P2426L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	2426	Ig-like C2-type 22.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.175182	102.427631	129.694818	48	226	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184293121	184293121	7511	1	C	T	T	24	24	HMCN1	T	2	2
HMCN1	83872	broad.mit.edu	36	1	184323329	184323329	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184323329C>T	uc001grq.1	+	c.9292C>T	c.(9292-9294)CGG>TGG	p.R3098W		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	3098	Ig-like C2-type 29.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.209375	130.636	155.672639	67	253	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184323329	184323329	7511	1	C	T	T	27	27	HMCN1	T	1	1
HMCN1	83872	broad.mit.edu	36	1	184348582	184348582	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184348582C>T	uc001grq.1	+	c.11005C>T	c.(11005-11007)CGA>TGA	p.R3669*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	3669	Ig-like C2-type 35.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.278571	91.355747	97.537515	39	101	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	184348582	184348582	7511	1	C	T	T	27	27	HMCN1	T	5	1
HMCN1	83872	broad.mit.edu	36	1	184373617	184373617	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184373617G>A	uc001grq.1	+	c.13814G>A	c.(13813-13815)GGC>GAC	p.G4605D	HMCN1_uc001grs.1_Missense_Mutation_p.G174D	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	4605	TSP type-1 2.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.413127	291.420539	293.085742	107	152	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184373617	184373617	7511	1	G	A	A	42	42	HMCN1	A	2	2
PRG4	10216	broad.mit.edu	36	1	184543564	184543564	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184543564C>T	uc001gru.2	+	c.2090C>T	c.(2089-2091)GCT>GTT	p.A697V	PRG4_uc001grt.2_Missense_Mutation_p.A656V|PRG4_uc009wyl.1_Missense_Mutation_p.A604V|PRG4_uc009wym.1_Missense_Mutation_p.A563V	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	697	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|41.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity				0														0.447471	322.39744	323.013213	115	142	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184543564	184543564	12924	1	C	T	T	28	28	PRG4	T	2	2
PRG4	10216	broad.mit.edu	36	1	184548563	184548563	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184548563G>T	uc001gru.2	+	c.4031G>T	c.(4030-4032)AGA>ATA	p.R1344I	PRG4_uc001grt.2_Missense_Mutation_p.R1303I|PRG4_uc009wyl.1_Missense_Mutation_p.R1251I|PRG4_uc009wym.1_Missense_Mutation_p.R1210I|TPR_uc001grv.1_3'UTR	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1344					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity				0														0.5	246.072926	246.072926	91	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184548563	184548563	12924	1	G	T	T	33	33	PRG4	T	3	3
TPR	7175	broad.mit.edu	36	1	184553279	184553279	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184553279G>T	uc001grv.1	-	c.6898C>A	c.(6898-6900)CTC>ATC	p.L2300I		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2300					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)								1949				0.416	129.957759	130.731336	52	73	GG		KEEP	---	---	---	---	capture		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	Missense_Mutation	SNP	184553279	184553279	16960	1	G	T	T	33	33	TPR	T	3	3
C1orf27	54953	broad.mit.edu	36	1	184625354	184625354	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184625354G>A	uc001grw.1	+	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	C1orf27_uc001grx.1_Non-coding_Transcript	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	hypothetical protein LOC54953	150					oxidation-reduction process	integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1														0.735849	244.087028	249.415036	78	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184625354	184625354	2110	1	G	A	A	37	37	C1orf27	A	1	1
IGSF21	84966	broad.mit.edu	36	1	18490988	18490988	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18490988C>T	uc001bau.1	+	c.225C>T	c.(223-225)TTC>TTT	p.F75F		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	75	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)												0.173077	60.061273	81.07582	36	172	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	Silent	SNP	18490988	18490988	7900	1	C	T	T	31	31	IGSF21	T	1	1
PTGS2	5743	broad.mit.edu	36	1	184910471	184910471	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184910471G>A	uc001gsb.1	-	c.1452C>T	c.(1450-1452)ATC>ATT	p.I484I	PTGS2_uc009wyo.1_Silent_p.I331I	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	484					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|oxidation-reduction process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|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)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)					279				0.213542	84.166403	98.726795	41	151	GG		KEEP	---	---	---	---	capture			Silent	SNP	184910471	184910471	13211	1	G	A	A	37	37	PTGS2	A	1	1
PLA2G4A	5321	broad.mit.edu	36	1	185128863	185128863	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:185128863G>A	uc001gsc.1	+	c.213G>A	c.(211-213)TGG>TGA	p.W71*		NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	71	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(1)	1					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)									0.172727	138.913845	183.446459	76	364	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	185128863	185128863	12427	1	G	A	A	41	41	PLA2G4A	A	5	2
PLA2G4A	5321	broad.mit.edu	36	1	185175734	185175734	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:185175734G>T	uc001gsc.1	+	c.919_splice	c.e10-1	p.R307_splice		NM_024420	NP_077734			cytosolic phospholipase A2, group IVA						phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(1)	1					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)									0.419355	175.433779	176.316712	65	90	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	185175734	185175734	12427	1	G	T	T	33	33	PLA2G4A	T	5	3
PLA2G4A	5321	broad.mit.edu	36	1	185175809	185175809	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:185175809T>C	uc001gsc.1	+	c.993T>C	c.(991-993)TGT>TGC	p.C331C		NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	331	PLA2c.			C->A: No effect on phospholipase activity; when associated with A-324.	phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(1)	1					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)									0.220264	130.137447	146.490402	50	177	TT		KEEP	---	---	---	---	capture			Silent	SNP	185175809	185175809	12427	1	T	C	C	58	58	PLA2G4A	C	4	4
KLHDC7A	127707	broad.mit.edu	36	1	18681028	18681028	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18681028G>A	uc001bax.1	+	c.966G>A	c.(964-966)CCG>CCA	p.P322P	KLHDC7A_uc009vpg.1_Silent_p.P104P	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	322						integral to membrane				ovary(2)	2		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)												0.25641	39.588322	43.773765	20	58	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	18681028	18681028	8672	1	G	A	A	38	38	KLHDC7A	A	1	1
KLHDC7A	127707	broad.mit.edu	36	1	18682133	18682133	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18682133G>A	uc001bax.1	+	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	KLHDC7A_uc009vpg.1_Missense_Mutation_p.A473T	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	691						integral to membrane				ovary(2)	2		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)												0.416667	158.982963	159.824478	60	84	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	18682133	18682133	8672	1	G	A	A	38	38	KLHDC7A	A	1	1
KLHDC7A	127707	broad.mit.edu	36	1	18682200	18682200	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18682200C>T	uc001bax.1	+	c.2138C>T	c.(2137-2139)CCG>CTG	p.P713L	KLHDC7A_uc009vpg.1_Missense_Mutation_p.P495L	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	713						integral to membrane				ovary(2)	2		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)												0.174863	57.80354	76.044442	32	151	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	18682200	18682200	8672	1	C	T	T	23	23	KLHDC7A	T	1	1
FAM5C	339479	broad.mit.edu	36	1	188500724	188500724	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:188500724G>A	uc001gse.1	-	c.512C>T	c.(511-513)TCG>TTG	p.S171L		NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	171						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.191617	59.838385	74.654589	32	135	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	188500724	188500724	5817	1	G	A	A	37	37	FAM5C	A	1	1
KIAA1751	85452	broad.mit.edu	36	1	1887790	1887790	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1887790C>T	uc009vkz.1	-	c.1281G>A	c.(1279-1281)CGG>CGA	p.R427R	KIAA1751_uc001aim.1_Silent_p.R427R	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	427										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)												0.484848	42.058597	42.06646	16	17	CC		KEEP	---	---	---	---	capture		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	Silent	SNP	1887790	1887790	8567	1	C	T	T	18	18	KIAA1751	T	2	2
PAX7	5081	broad.mit.edu	36	1	18899752	18899752	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18899752C>T	uc001bay.1	+	c.805C>T	c.(805-807)CGC>TGC	p.R269C	PAX7_uc001baz.1_Missense_Mutation_p.R267C	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	269	Homeobox.				anti-apoptosis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity		PAX7/FOXO1(197)	soft_tissue(197)|ovary(1)|lung(1)	199		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)								129				0.208092	77.760583	91.375181	36	137	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	Missense_Mutation	SNP	18899752	18899752	11904	1	C	T	T	23	23	PAX7	T	1	1
PAX7	5081	broad.mit.edu	36	1	18934991	18934991	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18934991C>T	uc001bay.1	+	c.1434C>T	c.(1432-1434)GTC>GTT	p.V478V	PAX7_uc001baz.1_Silent_p.V476V	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	478					anti-apoptosis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity		PAX7/FOXO1(197)	soft_tissue(197)|ovary(1)|lung(1)	199		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)								129				0.1875	46.875286	58.543609	24	104	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	Silent	SNP	18934991	18934991	11904	1	C	T	T	30	30	PAX7	T	2	2
TAS1R2	80834	broad.mit.edu	36	1	19039113	19039113	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19039113C>T	uc001bba.1	-	c.2087G>A	c.(2086-2088)GGC>GAC	p.G696D		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	696	Helical; Name=4; (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	integral to membrane|plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			Aspartame(DB00168)									0.458647	328.79749	329.195399	122	144	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	19039113	19039113	16085	1	C	T	T	26	26	TAS1R2	T	2	2
TAS1R2	80834	broad.mit.edu	36	1	19058649	19058649	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19058649C>A	uc001bba.1	-	c.93G>T	c.(91-93)GGG>GGT	p.G31G		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	31	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	integral to membrane|plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			Aspartame(DB00168)									0.548673	350.174257	350.636031	124	102	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	19058649	19058649	16085	1	C	A	A	22	22	TAS1R2	A	3	3
RGS2	5997	broad.mit.edu	36	1	191045964	191045964	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:191045964C>A	uc001gsl.1	+	c.156C>A	c.(154-156)TCC>TCA	p.S52S		NM_002923	NP_002914	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	52	Necessary for membrane association.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|relaxation of cardiac muscle	cytosol|internal side of plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0						Pancreas(71;51 2183 4981)								0.213333	66.812445	78.206455	32	118	CC		KEEP	---	---	---	---	capture			Silent	SNP	191045964	191045964	13776	1	C	A	A	24	24	RGS2	A	3	3
RGS2	5997	broad.mit.edu	36	1	191046876	191046876	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:191046876C>A	uc001gsl.1	+	c.417C>A	c.(415-417)TTC>TTA	p.F139L		NM_002923	NP_002914	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	139	RGS.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|relaxation of cardiac muscle	cytosol|internal side of plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0						Pancreas(71;51 2183 4981)								0.174107	67.871908	90.342889	39	185	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	191046876	191046876	13776	1	C	A	A	29	29	RGS2	A	3	3
UCHL5	51377	broad.mit.edu	36	1	191252125	191252125	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:191252125C>A	uc001gsm.1	-	c.969G>T	c.(967-969)AAG>AAT	p.K323N	UCHL5_uc001gsn.1_Non-coding_Transcript|UCHL5_uc001gso.1_Missense_Mutation_p.K322N	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN	ubiquitin C-terminal hydrolase UCH37	323	Interaction with ADRM1.				protein deubiquitination|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cytosol|nucleus|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1														0.361702	351.760941	358.104586	136	240	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	191252125	191252125	17480	1	C	A	A	32	32	UCHL5	A	3	3
CDC73	79577	broad.mit.edu	36	1	191373902	191373902	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:191373902G>T	uc001gtb.1	+	c.488G>T	c.(487-489)GGG>GTG	p.G163V		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	163					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(44)|ovary(1)|pancreas(1)	46										312				0.182203	77.592241	99.979376	43	193	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	191373902	191373902	3214	1	G	T	T	43	43	CDC73	T	3	3
B3GALT2	8707	broad.mit.edu	36	1	191416209	191416209	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:191416209G>A	uc009wyr.1	-	c.1107C>T	c.(1105-1107)GTC>GTT	p.V369V	CDC73_uc001gtb.1_Intron|B3GALT2_uc001gtc.2_Silent_p.V369V|B3GALT2_uc009wys.1_Silent_p.V369V	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	369	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1														0.207254	83.98038	99.322273	40	153	GG		KEEP	---	---	---	---	capture			Silent	SNP	191416209	191416209	1269	1	G	A	A	33	33	B3GALT2	A	2	2
B3GALT2	8707	broad.mit.edu	36	1	191416662	191416662	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:191416662C>A	uc009wyr.1	-	c.654G>T	c.(652-654)CAG>CAT	p.Q218H	CDC73_uc001gtb.1_Intron|B3GALT2_uc001gtc.2_Missense_Mutation_p.Q218H|B3GALT2_uc009wys.1_Missense_Mutation_p.Q218H	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	218	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1														0.393365	224.861736	226.967501	83	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	191416662	191416662	1269	1	C	A	A	24	24	B3GALT2	A	3	3
UBR4	23352	broad.mit.edu	36	1	19343982	19343982	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19343982G>A	uc001bbi.1	-	c.7952C>T	c.(7951-7953)ACT>ATT	p.T2651I	UBR4_uc001bbk.1_Missense_Mutation_p.T333I	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2651					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)												0.208333	65.766371	77.114974	30	114	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	Missense_Mutation	SNP	19343982	19343982	17462	1	G	A	A	36	36	UBR4	A	2	2
UBR4	23352	broad.mit.edu	36	1	19397031	19397031	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19397031G>T	uc001bbi.1	-	c.748C>A	c.(748-750)CTT>ATT	p.L250I		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	250					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)												0.201133	132.11885	161.451117	71	282	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	Missense_Mutation	SNP	19397031	19397031	17462	1	G	T	T	34	34	UBR4	T	3	3
KIAA0090	23065	broad.mit.edu	36	1	19418736	19418736	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19418736C>T	uc001bbo.1	-	c.2716G>A	c.(2716-2718)GCA>ACA	p.A906T	KIAA0090_uc001bbn.1_Non-coding_Transcript|KIAA0090_uc001bbp.1_Missense_Mutation_p.A905T|KIAA0090_uc001bbq.1_Missense_Mutation_p.A905T|KIAA0090_uc001bbr.1_Missense_Mutation_p.A884T	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065	906	DUF1620.|Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)				GBM(4;72 124 25802 30195)								0.427536	162.901668	163.533386	59	79	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	Missense_Mutation	SNP	19418736	19418736	8460	1	C	T	T	27	27	KIAA0090	T	1	1
KIAA0090	23065	broad.mit.edu	36	1	19436236	19436236	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19436236G>T	uc001bbo.1	-	c.1296C>A	c.(1294-1296)TTC>TTA	p.F432L	KIAA0090_uc001bbp.1_Missense_Mutation_p.F432L|KIAA0090_uc001bbq.1_Missense_Mutation_p.F431L|KIAA0090_uc001bbr.1_Missense_Mutation_p.F410L	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065	432	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)				GBM(4;72 124 25802 30195)								0.417303	436.795984	439.149136	164	229	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	Missense_Mutation	SNP	19436236	19436236	8460	1	G	T	T	41	41	KIAA0090	T	3	3
KCNT2	343450	broad.mit.edu	36	1	194494044	194494044	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:194494044C>A	uc001gtd.1	-	c.3114G>T	c.(3112-3114)CAG>CAT	p.Q1038H	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1038	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.459184	254.7172	255.00276	90	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	194494044	194494044	8397	1	C	A	A	28	28	KCNT2	A	3	3
GABRD	2563	broad.mit.edu	36	1	1946265	1946265	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1946265C>T	uc001aip.2	+	c.93C>T	c.(91-93)TAC>TAT	p.Y31Y		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	31	Extracellular (Probable).					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(1)|central_nervous_system(1)	2	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)												0.407407	117.799437	118.601688	44	64	CC		KEEP	---	---	---	---	capture		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Silent	SNP	1946265	1946265	6420	1	C	T	T	19	19	GABRD	T	1	1
KCNT2	343450	broad.mit.edu	36	1	194634341	194634341	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:194634341T>G	uc001gtd.1	-	c.1269A>C	c.(1267-1269)GAA>GAC	p.E423D	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E423D|KCNT2_uc001gtf.1_Missense_Mutation_p.E423D|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.1_Missense_Mutation_p.E423D|KCNT2_uc009wyv.1_Missense_Mutation_p.E398D	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	423	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.246154	92.841456	100.463741	32	98	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	194634341	194634341	8397	1	T	G	G	64	64	KCNT2	G	4	4
KCNT2	343450	broad.mit.edu	36	1	194661692	194661692	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:194661692C>T	uc001gtd.1	-	c.1034G>A	c.(1033-1035)CGA>CAA	p.R345Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R345Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R345Q|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.1_Missense_Mutation_p.R345Q|KCNT2_uc009wyv.1_Missense_Mutation_p.R320Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	345	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.451282	248.986915	249.387544	88	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	194661692	194661692	8397	1	C	T	T	31	31	KCNT2	T	1	1
CFH	3075	broad.mit.edu	36	1	194908918	194908918	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:194908918T>C	uc001gtj.2	+	c.244_splice	c.e2+2	p.K82_splice	CFH_uc001gti.2_Splice_Site_SNP_p.K82_splice|CFH_uc009wyw.1_Splice_Site_SNP_p.K82_splice|CFH_uc009wyx.1_Splice_Site_SNP_p.K82_splice	NM_000186	NP_000177			complement factor H isoform a precursor						complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.432258	230.220011	230.836207	67	88	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	194908918	194908918	3416	1	T	C	C	57	57	CFH	C	5	4
CFH	3075	broad.mit.edu	36	1	194913383	194913383	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:194913383C>T	uc001gtj.2	+	c.582C>T	c.(580-582)GAC>GAT	p.D194D	CFH_uc001gti.2_Silent_p.D194D|CFH_uc009wyw.1_Silent_p.D194D|CFH_uc009wyx.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	194	Sushi 3.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.184615	90.272551	114.512756	48	212	CC		KEEP	---	---	---	---	capture			Silent	SNP	194913383	194913383	3416	1	C	T	T	19	19	CFH	T	1	1
CFH	3075	broad.mit.edu	36	1	194972670	194972670	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:194972670C>A	uc001gtj.2	+	c.2507C>A	c.(2506-2508)TCT>TAT	p.S836Y		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	836	Sushi 14.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.19	31.855994	40.858384	19	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	194972670	194972670	3416	1	C	A	A	32	32	CFH	A	3	3
AKR7A2	8574	broad.mit.edu	36	1	19505207	19505207	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19505207G>A	uc001bbw.1	-	c.810C>T	c.(808-810)TTC>TTT	p.F270F	AKR7A2_uc001bbx.1_Silent_p.F235F	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	270					carbohydrate metabolic process|cellular aldehyde metabolic process|oxidation-reduction process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)												0.278481	106.436431	113.40911	44	114	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	19505207	19505207	478	1	G	A	A	37	37	AKR7A2	A	1	1
CFHR4	10877	broad.mit.edu	36	1	195123907	195123907	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195123907T>G	uc001gtp.1	+	c.4T>G	c.(4-6)TTG>GTG	p.L2V	CFHR4_uc001gto.1_Missense_Mutation_p.L2V|CFHR4_uc009wyy.1_Missense_Mutation_p.L2V	NM_006684		Q92496	FHR4_HUMAN	complement factor H-related 4	2						extracellular region	lipid transporter activity			ovary(1)|pancreas(1)	2														0.214286	111.85323	126.619175	42	154	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195123907	195123907	3420	1	T	G	G	60	60	CFHR4	G	4	4
GABRD	2563	broad.mit.edu	36	1	1951364	1951364	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1951364G>A	uc001aip.2	+	c.1142G>A	c.(1141-1143)CGC>CAC	p.R381H		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	381	Cytoplasmic (Probable).					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(1)|central_nervous_system(1)	2	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)												0.230088	49.688578	57.242667	26	87	GG		KEEP	---	---	---	---	capture		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Missense_Mutation	SNP	1951364	1951364	6420	1	G	A	A	38	38	GABRD	A	1	1
CFHR2	3080	broad.mit.edu	36	1	195194769	195194769	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195194769C>T	uc001gtq.1	+	c.749C>T	c.(748-750)TCT>TTT	p.S250F	CFHR2_uc001gtr.1_Missense_Mutation_p.S126F	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3	250	Sushi 4.					extracellular region				ovary(1)	1														0.398496	152.521889	153.727583	53	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195194769	195194769	3418	1	C	T	T	32	32	CFHR2	T	2	2
CFHR5	81494	broad.mit.edu	36	1	195231594	195231594	+	Silent	SNP	C	T	T	rs41306229	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195231594C>T	uc001gts.2	+	c.732C>T	c.(730-732)AAC>AAT	p.N244N		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	244	Sushi 4.				complement activation, alternative pathway	extracellular region				breast(1)	1														0.198473	50.37243	61.463744	26	105	CC		KEEP	---	---	---	---	capture			Silent	SNP	195231594	195231594	3421	1	C	T	T	19	19	CFHR5	T	1	1
PQLC2	54896	broad.mit.edu	36	1	19526349	19526349	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19526349C>T	uc001bby.1	+	c.660C>T	c.(658-660)TTC>TTT	p.F220F	PQLC2_uc009vpj.1_Non-coding_Transcript|PQLC2_uc001bca.1_Silent_p.F220F|PQLC2_uc001bbz.1_Silent_p.F155F|PQLC2_uc001bcb.1_Silent_p.F109F|PQLC2_uc001bcc.1_Silent_p.F109F	NM_017765	NP_001035215	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	220	PQ-loop 2.|Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)												0.480663	246.288596	246.348498	87	94	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	19526349	19526349	12855	1	C	T	T	31	31	PQLC2	T	1	1
F13B	2165	broad.mit.edu	36	1	195276372	195276372	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195276372C>A	uc001gtt.1	-	c.1855G>T	c.(1855-1857)GAT>TAT	p.D619Y		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	619	Cell attachment site.|Sushi 10.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.206349	76.318812	91.432298	39	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195276372	195276372	5535	1	C	A	A	32	32	F13B	A	3	3
F13B	2165	broad.mit.edu	36	1	195296288	195296288	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195296288C>T	uc001gtt.1	-	c.636G>A	c.(634-636)AAG>AAA	p.K212K		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	212	Sushi 4.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.2	53.756956	63.384421	23	92	CC		KEEP	---	---	---	---	capture			Silent	SNP	195296288	195296288	5535	1	C	T	T	20	20	F13B	T	2	2
F13B	2165	broad.mit.edu	36	1	195296672	195296672	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195296672G>T	uc001gtt.1	-	c.608C>A	c.(607-609)TCT>TAT	p.S203Y		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	203	Sushi 3.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.204167	93.52386	113.036448	49	191	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195296672	195296672	5535	1	G	T	T	33	33	F13B	T	3	3
ASPM	259266	broad.mit.edu	36	1	195328946	195328946	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195328946C>T	uc001gtu.1	-	c.9153G>A	c.(9151-9153)CGG>CGA	p.R3051R	ASPM_uc001gtv.1_Silent_p.R1466R|ASPM_uc001gtw.2_Silent_p.R899R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3051	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.216028	129.081205	150.449911	62	225	CC		KEEP	---	---	---	---	capture			Silent	SNP	195328946	195328946	1075	1	C	T	T	26	26	ASPM	T	2	2
ASPM	259266	broad.mit.edu	36	1	195329883	195329883	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195329883G>A	uc001gtu.1	-	c.9038C>T	c.(9037-9039)GCT>GTT	p.A3013V	ASPM_uc001gtv.1_Missense_Mutation_p.A1428V|ASPM_uc001gtw.2_Missense_Mutation_p.A861V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3013					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.215385	32.913453	37.773851	14	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195329883	195329883	1075	1	G	A	A	34	34	ASPM	A	2	2
ASPM	259266	broad.mit.edu	36	1	195337248	195337248	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195337248T>G	uc001gtu.1	-	c.7756A>C	c.(7756-7758)AAA>CAA	p.K2586Q	ASPM_uc001gtv.1_Intron|ASPM_uc001gtw.2_Missense_Mutation_p.K434Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2586					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.519231	280.88356	280.933944	81	75	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195337248	195337248	1075	1	T	G	G	64	64	ASPM	G	4	4
ASPM	259266	broad.mit.edu	36	1	195337679	195337679	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195337679C>T	uc001gtu.1	-	c.7325G>A	c.(7324-7326)CGA>CAA	p.R2442Q	ASPM_uc001gtv.1_Intron|ASPM_uc001gtw.2_Missense_Mutation_p.R290Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2442					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.436567	327.338847	328.277051	117	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195337679	195337679	1075	1	C	T	T	31	31	ASPM	T	1	1
ASPM	259266	broad.mit.edu	36	1	195338550	195338550	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195338550C>T	uc001gtu.1	-	c.6454G>A	c.(6454-6456)GCA>ACA	p.A2152T	ASPM_uc001gtv.1_Intron|ASPM_uc001gtw.2_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2152					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.393768	388.632624	392.124566	139	214	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195338550	195338550	1075	1	C	T	T	28	28	ASPM	T	2	2
ASPM	259266	broad.mit.edu	36	1	195338970	195338970	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195338970C>A	uc001gtu.1	-	c.6034G>T	c.(6034-6036)GAA>TAA	p.E2012*	ASPM_uc001gtv.1_Intron|ASPM_uc001gtw.2_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2012					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.211604	120.367782	142.9243	62	231	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	195338970	195338970	1075	1	C	A	A	32	32	ASPM	A	5	3
ASPM	259266	broad.mit.edu	36	1	195364948	195364948	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195364948C>T	uc001gtu.1	-	c.2752G>A	c.(2752-2754)GAA>AAA	p.E918K	ASPM_uc001gtv.1_Missense_Mutation_p.E918K|ASPM_uc001gtw.2_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	918					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.429379	215.665031	216.436117	76	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195364948	195364948	1075	1	C	T	T	31	31	ASPM	T	1	1
ASPM	259266	broad.mit.edu	36	1	195365671	195365671	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195365671C>T	uc001gtu.1	-	c.2626G>A	c.(2626-2628)GAT>AAT	p.D876N	ASPM_uc001gtv.1_Missense_Mutation_p.D876N|ASPM_uc001gtw.2_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	876					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.489051	199.813591	199.828051	67	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195365671	195365671	1075	1	C	T	T	32	32	ASPM	T	2	2
ASPM	259266	broad.mit.edu	36	1	195379845	195379845	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195379845C>T	uc001gtu.1	-	c.306G>A	c.(304-306)GAG>GAA	p.E102E	ASPM_uc001gtv.1_Silent_p.E102E|ASPM_uc001gtw.2_5'UTR	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	102					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.356383	197.166448	200.58514	67	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	195379845	195379845	1075	1	C	T	T	32	32	ASPM	T	2	2
ZBTB41	360023	broad.mit.edu	36	1	195427550	195427550	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195427550C>T	uc001gtx.1	-	c.1223G>A	c.(1222-1224)AGA>AAA	p.R408K	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	408	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2														0.495652	171.551681	171.553782	57	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195427550	195427550	18129	1	C	T	T	32	32	ZBTB41	T	2	2
ZBTB41	360023	broad.mit.edu	36	1	195435716	195435716	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195435716C>A	uc001gtx.1	-	c.511G>T	c.(511-513)GTG>TTG	p.V171L	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2														0.118421	9.318507	20.193994	9	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195435716	195435716	18129	1	C	A	A	20	20	ZBTB41	A	3	3
ZBTB41	360023	broad.mit.edu	36	1	195436062	195436062	+	Silent	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195436062A>T	uc001gtx.1	-	c.165T>A	c.(163-165)CCT>CCA	p.P55P	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2														0.191489	62.689685	79.420013	36	152	AA		KEEP	---	---	---	---	capture			Silent	SNP	195436062	195436062	18129	1	A	T	T	11	11	ZBTB41	T	4	4
CRB1	23418	broad.mit.edu	36	1	195657112	195657112	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195657112G>A	uc001gtz.1	+	c.1531G>A	c.(1531-1533)GCC>ACC	p.A511T	CRB1_uc001gua.1_Non-coding_Transcript|CRB1_uc009wza.1_Missense_Mutation_p.A399T|CRB1_uc001gub.1_Missense_Mutation_p.A160T	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	511	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.194175	82.206099	100.168463	40	166	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195657112	195657112	3987	1	G	A	A	34	34	CRB1	A	2	2
CRB1	23418	broad.mit.edu	36	1	195657331	195657331	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195657331G>A	uc001gtz.1	+	c.1750G>A	c.(1750-1752)GAC>AAC	p.D584N	CRB1_uc001gua.1_Non-coding_Transcript|CRB1_uc009wza.1_Missense_Mutation_p.D472N|CRB1_uc001gub.1_Missense_Mutation_p.D233N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	584	Extracellular (Potential).|Laminin G-like 1.		D -> Y (in LCA8).		cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.23622	130.762559	146.929813	60	194	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195657331	195657331	3987	1	G	A	A	37	37	CRB1	A	1	1
DENND1B	163486	broad.mit.edu	36	1	195818968	195818968	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195818968C>T	uc001guf.2	-	c.1086G>A	c.(1084-1086)AAG>AAA	p.K362K	DENND1B_uc001gud.2_Intron|DENND1B_uc009wzb.1_Silent_p.K332K|DENND1B_uc001gue.2_Silent_p.K332K|DENND1B_uc001guc.1_5'Flank	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	362	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0														0.17	66.824689	87.433325	34	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	195818968	195818968	4606	1	C	T	T	28	28	DENND1B	T	2	2
PTPRC	5788	broad.mit.edu	36	1	196990027	196990027	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:196990027A>G	uc001gur.1	+	c.3510A>G	c.(3508-3510)GGA>GGG	p.G1170G	PTPRC_uc001gus.1_Silent_p.G1122G|PTPRC_uc001gut.1_Silent_p.G1009G	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1170	Tyrosine-protein phosphatase 2.|Cytoplasmic (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(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.232877	142.323418	156.620924	51	168	AA		KEEP	---	---	---	---	capture			Silent	SNP	196990027	196990027	13254	1	A	G	G	12	12	PTPRC	G	4	4
PTPRC	5788	broad.mit.edu	36	1	196990119	196990119	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:196990119C>T	uc001gur.1	+	c.3602C>T	c.(3601-3603)GCT>GTT	p.A1201V	PTPRC_uc001gus.1_Missense_Mutation_p.A1153V|PTPRC_uc001gut.1_Missense_Mutation_p.A1040V	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1201	Tyrosine-protein phosphatase 2.|Cytoplasmic (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(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.199187	101.141484	121.85349	49	197	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	196990119	196990119	13254	1	C	T	T	28	28	PTPRC	T	2	2
PTPRC	5788	broad.mit.edu	36	1	196991661	196991661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:196991661C>T	uc001gur.1	+	c.3643C>T	c.(3643-3645)CAA>TAA	p.Q1215*	PTPRC_uc001gus.1_Nonsense_Mutation_p.Q1167*|PTPRC_uc001gut.1_Nonsense_Mutation_p.Q1054*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1215	Tyrosine-protein phosphatase 2.|Cytoplasmic (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(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.176796	54.025731	71.821551	32	149	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	196991661	196991661	13254	1	C	T	T	25	25	PTPRC	T	5	2
PRKCZ	5590	broad.mit.edu	36	1	1976780	1976780	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1976780G>A	uc001aiq.1	+	c.112G>A	c.(112-114)GAG>AAG	p.E38K		NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	38	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|insulin receptor substrate binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)								2432				0.56383	155.780144	156.113524	53	41	GG		KEEP	---	---	---	---	capture		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Missense_Mutation	SNP	1976780	1976780	12960	1	G	A	A	37	37	PRKCZ	A	1	1
KIF14	9928	broad.mit.edu	36	1	198801223	198801223	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:198801223C>A	uc001gvh.1	-	c.3859G>T	c.(3859-3861)GAA>TAA	p.E1287*		NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1287	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)	5														0.371901	116.131453	117.880267	45	76	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	198801223	198801223	8587	1	C	A	A	32	32	KIF14	A	5	3
KIF14	9928	broad.mit.edu	36	1	198827967	198827967	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:198827967C>A	uc001gvh.1	-	c.2677G>T	c.(2677-2679)GAT>TAT	p.D893Y		NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	893					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)	5														0.186207	48.04041	61.423428	27	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	198827967	198827967	8587	1	C	A	A	32	32	KIF14	A	3	3
KIF14	9928	broad.mit.edu	36	1	198853444	198853444	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:198853444T>G	uc001gvh.1	-	c.1031A>C	c.(1030-1032)AAC>ACC	p.N344T		NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	344	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)	5														0.208	192.569761	222.286885	78	297	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	198853444	198853444	8587	1	T	G	G	60	60	KIF14	G	4	4
DDX59	83479	broad.mit.edu	36	1	198880230	198880230	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:198880230C>T	uc009wzk.1	-	c.1635G>A	c.(1633-1635)GCG>GCA	p.A545A	DDX59_uc001gvi.2_Intron	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	545	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.455882	265.047321	265.39335	93	111	CC		KEEP	---	---	---	---	capture			Silent	SNP	198880230	198880230	4547	1	C	T	T	31	31	DDX59	T	1	1
DDX59	83479	broad.mit.edu	36	1	198901923	198901923	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:198901923C>T	uc009wzk.1	-	c.569G>A	c.(568-570)GGA>GAA	p.G190E	DDX59_uc001gvi.2_Missense_Mutation_p.G190E	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	190						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.431095	345.973118	347.150426	122	161	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	198901923	198901923	4547	1	C	T	T	30	30	DDX59	T	2	2
CAMSAP1L1	23271	broad.mit.edu	36	1	199084150	199084150	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199084150G>A	uc001gvl.1	+	c.1663G>A	c.(1663-1665)GAA>AAA	p.E555K	CAMSAP1L1_uc001gvk.1_Missense_Mutation_p.E544K|CAMSAP1L1_uc001gvm.1_Missense_Mutation_p.E528K	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	555						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4														0.209756	94.699816	110.692233	43	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199084150	199084150	2729	1	G	A	A	33	33	CAMSAP1L1	A	2	2
CAMSAP1L1	23271	broad.mit.edu	36	1	199084403	199084403	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199084403C>T	uc001gvl.1	+	c.1916C>T	c.(1915-1917)TCG>TTG	p.S639L	CAMSAP1L1_uc001gvk.1_Missense_Mutation_p.S628L|CAMSAP1L1_uc001gvm.1_Missense_Mutation_p.S612L	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	639						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4														0.479233	433.811242	433.929536	150	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199084403	199084403	2729	1	C	T	T	31	31	CAMSAP1L1	T	1	1
CAMSAP1L1	23271	broad.mit.edu	36	1	199093506	199093506	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199093506A>T	uc001gvl.1	+	c.4166A>T	c.(4165-4167)GAA>GTA	p.E1389V	CAMSAP1L1_uc001gvk.1_Missense_Mutation_p.E1378V|CAMSAP1L1_uc001gvm.1_Missense_Mutation_p.E1362V	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1389	CKK.					cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4														0.251082	125.351497	138.352989	58	173	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199093506	199093506	2729	1	A	T	T	9	9	CAMSAP1L1	T	4	4
GPR25	2848	broad.mit.edu	36	1	199109679	199109679	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199109679C>T	uc001gvn.1	+	c.891C>T	c.(889-891)TTC>TTT	p.F297F		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	297	Helical; Name=7; (Potential).					integral to plasma membrane				ovary(1)	1														0.21978	39.439637	46.036347	20	71	CC		KEEP	---	---	---	---	capture			Silent	SNP	199109679	199109679	6958	1	C	T	T	31	31	GPR25	T	1	1
C1orf106	55765	broad.mit.edu	36	1	199134157	199134157	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199134157G>T	uc001gvo.1	+	c.261G>T	c.(259-261)GAG>GAT	p.E87D		NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	87										ovary(1)	1														0.193548	84.43712	106.198498	48	200	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199134157	199134157	2047	1	G	T	T	33	33	C1orf106	T	3	3
KIF21B	23046	broad.mit.edu	36	1	199226026	199226026	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199226026G>C	uc001gvs.1	-	c.2893C>G	c.(2893-2895)CAG>GAG	p.Q965E	KIF21B_uc001gvr.1_Missense_Mutation_p.Q965E|KIF21B_uc009wzl.1_Missense_Mutation_p.Q965E	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	965	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.222222	6.976325	9.672355	8	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199226026	199226026	8600	1	G	C	C	46	46	KIF21B	C	3	3
KIF21B	23046	broad.mit.edu	36	1	199236479	199236479	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199236479G>A	uc001gvs.1	-	c.1455C>T	c.(1453-1455)ATC>ATT	p.I485I	KIF21B_uc001gvr.1_Silent_p.I485I|KIF21B_uc009wzl.1_Silent_p.I485I	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	485	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.23741	71.214944	79.96861	33	106	GG		KEEP	---	---	---	---	capture			Silent	SNP	199236479	199236479	8600	1	G	A	A	37	37	KIF21B	A	1	1
CACNA1S	779	broad.mit.edu	36	1	199283331	199283331	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199283331C>A	uc001gvv.1	-	c.4488G>T	c.(4486-4488)AAG>AAT	p.K1496N		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1496	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.245161	81.459633	90.641249	38	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199283331	199283331	2663	1	C	A	A	32	32	CACNA1S	A	3	3
CACNA1S	779	broad.mit.edu	36	1	199286873	199286873	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199286873C>T	uc001gvv.1	-	c.3975G>A	c.(3973-3975)TGG>TGA	p.W1325*		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1325	Extracellular (Potential).|IV.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.162921	50.276576	69.489423	29	149	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	199286873	199286873	2663	1	C	T	T	26	26	CACNA1S	T	5	2
CACNA1S	779	broad.mit.edu	36	1	199321218	199321218	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199321218G>A	uc001gvv.1	-	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	373	Binding to the beta subunit (By similarity).|Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)							OREG0014068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.464789	347.786767	348.088397	132	152	GG		KEEP	---	---	---	---	capture			Silent	SNP	199321218	199321218	2663	1	G	A	A	38	38	CACNA1S	A	1	1
CACNA1S	779	broad.mit.edu	36	1	199327781	199327781	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199327781G>T	uc001gvv.1	-	c.483C>A	c.(481-483)GTC>GTA	p.V161V		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	161	Helical; Name=S4 of repeat I; (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)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.192308	36.538377	45.738761	20	84	GG		KEEP	---	---	---	---	capture			Silent	SNP	199327781	199327781	2663	1	G	T	T	45	45	CACNA1S	T	3	3
TMCO4	255104	broad.mit.edu	36	1	19938984	19938985	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19938984_19938985CG>TA	uc001bcn.1	-	c.1098_1099CG>TA	c.(1096-1101)ATCGAC>ATTAAC	p.D367N	TMCO4_uc001bcm.1_Intron|TMCO4_uc001bco.1_Missense_Mutation_p.D367N|TMCO4_uc001bcp.1_Missense_Mutation_p.D327N	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	367						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)												0.276596	88.947384	95.297324	39	102	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	Missense_Mutation	DNP	19938984	19938985	16528	1	CG	TA	TA	31	31	TMCO4	TA	1	1
IGFN1	91156	broad.mit.edu	36	1	199462734	199462734	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199462734G>A	uc001gwc.1	+	c.2368G>A	c.(2368-2370)GAG>AAG	p.E790K	IGFN1_uc001gwb.1_Non-coding_Transcript	NM_178275	NP_840059			immunoglobulin-like and fibronectin type III											ovary(2)|pancreas(1)	3														0.479452	291.1968	291.279892	105	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199462734	199462734	7891	1	G	A	A	37	37	IGFN1	A	1	1
TMCO4	255104	broad.mit.edu	36	1	19954813	19954813	+	Missense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19954813C>G	uc001bcn.1	-	c.416G>C	c.(415-417)TGC>TCC	p.C139S	TMCO4_uc001bcm.1_Missense_Mutation_p.C139S|TMCO4_uc001bco.1_Missense_Mutation_p.C139S|TMCO4_uc001bcp.1_Missense_Mutation_p.C139S|TMCO4_uc009vpn.1_Missense_Mutation_p.C139S|TMCO4_uc001bcq.1_Missense_Mutation_p.C139S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	139						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)												0.173469	118.005239	147.65859	51	243	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	Missense_Mutation	SNP	19954813	19954813	16528	1	C	G	G	25	25	TMCO4	G	3	3
PKP1	5317	broad.mit.edu	36	1	199549065	199549065	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199549065C>T	uc001gwd.1	+	c.455C>T	c.(454-456)GCG>GTG	p.A152V	PKP1_uc001gwe.1_Missense_Mutation_p.A152V|PKP1_uc009wzm.1_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	152					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2														0.5	19.349493	19.349493	7	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199549065	199549065	12409	1	C	T	T	27	27	PKP1	T	1	1
PKP1	5317	broad.mit.edu	36	1	199554518	199554518	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199554518G>A	uc001gwd.1	+	c.1204G>A	c.(1204-1206)GTC>ATC	p.V402I	PKP1_uc001gwe.1_Missense_Mutation_p.V402I|PKP1_uc009wzm.1_Missense_Mutation_p.V10I	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	402	ARM 4.				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2														0.257143	20.457137	22.329709	9	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199554518	199554518	12409	1	G	A	A	44	44	PKP1	A	2	2
TNNT2	7139	broad.mit.edu	36	1	199599053	199599053	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199599053G>T	uc001gwf.1	-	c.594C>A	c.(592-594)ATC>ATA	p.I198I	TNNT2_uc009wzn.1_5'Flank|TNNT2_uc009wzo.1_5'Flank|TNNT2_uc009wzp.1_5'Flank|TNNT2_uc009wzq.1_Silent_p.I188I|TNNT2_uc001gwg.1_Silent_p.I188I|TNNT2_uc001gwh.1_Silent_p.I183I|TNNT2_uc001gwi.1_Silent_p.I158I|TNNT2_uc009wzr.1_Silent_p.I129I|TNNT2_uc001gwj.1_Non-coding_Transcript|TNNT2_uc009wzs.1_Silent_p.I163I|TNNT2_uc001gwk.1_Silent_p.I129I|TNNT2_uc009wzt.1_Silent_p.I188I	NM_000364	NP_000355	P45379	TNNT2_HUMAN	troponin T type 2, cardiac isoform 1	198					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														0.150358	85.367552	134.473307	63	356	GG		KEEP	---	---	---	---	capture			Silent	SNP	199599053	199599053	16872	1	G	T	T	41	41	TNNT2	T	3	3
TNNI1	7135	broad.mit.edu	36	1	199648857	199648857	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199648857G>T	uc009wzw.1	-	c.205C>A	c.(205-207)CTG>ATG	p.L69M	TNNI1_uc009wzv.1_Missense_Mutation_p.L48M|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.2_Missense_Mutation_p.L48M	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	69					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0														0.254098	353.410933	386.918659	155	455	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199648857	199648857	16867	1	G	T	T	34	34	TNNI1	T	3	3
NAV1	89796	broad.mit.edu	36	1	200044568	200044568	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200044568C>T	uc001gwu.2	+	c.4144C>T	c.(4144-4146)CGC>TGC	p.R1382C	NAV1_uc001gwx.2_Missense_Mutation_p.R991C	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1385					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(2)|ovary(1)	3														0.420849	315.144212	316.555005	109	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200044568	200044568	10579	1	C	T	T	23	23	NAV1	T	1	1
IPO9	55705	broad.mit.edu	36	1	200083064	200083064	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200083064T>G	uc001gwz.1	+	c.198T>G	c.(196-198)GAT>GAG	p.D66E		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	66	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2														0.193939	80.296345	94.736438	32	133	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200083064	200083064	8100	1	T	G	G	50	50	IPO9	G	4	4
IPO9	55705	broad.mit.edu	36	1	200090634	200090634	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200090634C>A	uc001gwz.1	+	c.871C>A	c.(871-873)CTG>ATG	p.L291M		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	291					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2														0.191589	76.233041	95.26899	41	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200090634	200090634	8100	1	C	A	A	32	32	IPO9	A	3	3
IPO9	55705	broad.mit.edu	36	1	200102515	200102515	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200102515A>G	uc001gwz.1	+	c.1660A>G	c.(1660-1662)ACC>GCC	p.T554A		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	554					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2														0.389908	281.464739	283.765674	85	133	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200102515	200102515	8100	1	A	G	G	14	14	IPO9	G	4	4
GPR37L1	9283	broad.mit.edu	36	1	200358924	200358924	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200358924C>A	uc001gxj.1	+	c.210C>A	c.(208-210)CCC>CCA	p.P70P		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1	70	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2														0.206897	23.567036	28.187029	12	46	CC		KEEP	---	---	---	---	capture			Silent	SNP	200358924	200358924	6967	1	C	A	A	21	21	GPR37L1	A	3	3
ARL8A	127829	broad.mit.edu	36	1	200371223	200371223	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200371223G>A	uc001gxk.1	-	c.427C>T	c.(427-429)CTG>TTG	p.L143L		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	143					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			ovary(2)	2												OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.193548	136.534577	166.43977	66	275	GG		KEEP	---	---	---	---	capture			Silent	SNP	200371223	200371223	964	1	G	A	A	34	34	ARL8A	A	2	2
LGR6	59352	broad.mit.edu	36	1	200540309	200540309	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200540309G>T	uc001gxu.1	+	c.999_splice	c.e11-1	p.L333_splice	LGR6_uc001gxv.1_Splice_Site_SNP_p.L281_splice|LGR6_uc009xab.1_Splice_Site_SNP|LGR6_uc001gxw.1_Splice_Site_SNP_p.L194_splice|LGR6_uc009xac.1_Splice_Site_SNP	NM_001017403	NP_001017403			leucine-rich repeat-containing G protein-coupled							integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|pancreas(1)	8														0.28866	64.550784	68.44169	28	69	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	200540309	200540309	9084	1	G	T	T	35	35	LGR6	T	5	3
LGR6	59352	broad.mit.edu	36	1	200543141	200543141	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200543141C>T	uc001gxu.1	+	c.1269C>T	c.(1267-1269)TCC>TCT	p.S423S	LGR6_uc001gxv.1_Silent_p.S371S|LGR6_uc009xab.1_Non-coding_Transcript|LGR6_uc001gxw.1_Silent_p.S284S	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	423	LRR 15.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|pancreas(1)	8														0.136612	37.286682	60.652194	25	158	CC		KEEP	---	---	---	---	capture			Silent	SNP	200543141	200543141	9084	1	C	T	T	22	22	LGR6	T	2	2
PPP1R12B	4660	broad.mit.edu	36	1	200658468	200658468	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200658468C>A	uc001gxz.1	+	c.520C>A	c.(520-522)CTG>ATG	p.L174M	PPP1R12B_uc001gxy.2_Missense_Mutation_p.L174M|PPP1R12B_uc009xad.1_Intron|PPP1R12B_uc009xae.1_Missense_Mutation_p.L174M|PPP1R12B_uc001gya.1_Missense_Mutation_p.L174M	NM_032105	NP_115288	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	174					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3														0.435374	173.464642	174.00203	64	83	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	200658468	200658468	12790	1	C	A	A	32	32	PPP1R12B	A	3	3
PPP1R12B	4660	broad.mit.edu	36	1	200673574	200673574	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200673574C>A	uc001gxz.1	+	c.1257C>A	c.(1255-1257)TTC>TTA	p.F419L	PPP1R12B_uc001gxy.2_Missense_Mutation_p.F419L|PPP1R12B_uc009xad.1_Missense_Mutation_p.F225L|PPP1R12B_uc009xae.1_Missense_Mutation_p.L382I|PPP1R12B_uc001gya.1_Missense_Mutation_p.F419L	NM_032105	NP_115288	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	419					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3														0.481752	177.014806	177.055648	66	71	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	200673574	200673574	12790	1	C	A	A	32	32	PPP1R12B	A	3	3
PPP1R12B	4660	broad.mit.edu	36	1	200673771	200673771	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200673771A>G	uc001gxz.1	+	c.1454A>G	c.(1453-1455)GAT>GGT	p.D485G	PPP1R12B_uc001gxy.2_Missense_Mutation_p.D485G|PPP1R12B_uc009xad.1_Missense_Mutation_p.D291G|PPP1R12B_uc009xae.1_3'UTR|PPP1R12B_uc001gya.1_Missense_Mutation_p.D485G	NM_032105	NP_115288	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	485					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3														0.414938	324.676606	326.194075	100	141	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	200673771	200673771	12790	1	A	G	G	12	12	PPP1R12B	G	4	4
PPP1R12B	4660	broad.mit.edu	36	1	200731057	200731057	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200731057G>A	uc001gxz.1	+	c.2159G>A	c.(2158-2160)CGC>CAC	p.R720H	PPP1R12B_uc001gya.1_Missense_Mutation_p.R720H|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_032105	NP_115288	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	720					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3														0.174312	63.920767	85.752021	38	180	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	200731057	200731057	12790	1	G	A	A	38	38	PPP1R12B	A	1	1
PPP1R12B	4660	broad.mit.edu	36	1	200798638	200798638	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200798638C>T	uc001gxz.1	+	c.2617C>T	c.(2617-2619)CGT>TGT	p.R873C	PPP1R12B_uc001gya.1_Missense_Mutation_p.R873C|PPP1R12B_uc001gyb.1_Missense_Mutation_p.R99C|PPP1R12B_uc001gyc.1_Missense_Mutation_p.R99C	NM_032105	NP_115288	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	873					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3														0.444898	317.471868	318.113487	109	136	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	200798638	200798638	12790	1	C	T	T	23	23	PPP1R12B	T	1	1
KDM5B	10765	broad.mit.edu	36	1	200972119	200972119	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200972119C>A	uc009xag.1	-	c.3217G>T	c.(3217-3219)GAC>TAC	p.D1073Y	KDM5B_uc001gyf.1_Missense_Mutation_p.D1037Y|KDM5B_uc001gyg.1_Missense_Mutation_p.D879Y	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1037					negative regulation of transcription, DNA-dependent|oxidation-reduction process	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														0.224359	69.935471	80.839095	35	121	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200972119	200972119	8440	1	C	A	A	32	32	KDM5B	A	3	3
KDM5B	10765	broad.mit.edu	36	1	200976534	200976534	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200976534G>A	uc009xag.1	-	c.3083C>T	c.(3082-3084)ACG>ATG	p.T1028M	KDM5B_uc001gyf.1_Missense_Mutation_p.T992M|KDM5B_uc001gyg.1_Missense_Mutation_p.T834M	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	992					negative regulation of transcription, DNA-dependent|oxidation-reduction process	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														0.458564	233.899769	234.170673	83	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200976534	200976534	8440	1	G	A	A	40	40	KDM5B	A	1	1
KDM5B	10765	broad.mit.edu	36	1	200978488	200978488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200978488G>A	uc009xag.1	-	c.2500C>T	c.(2500-2502)CGA>TGA	p.R834*	KDM5B_uc001gyf.1_Nonsense_Mutation_p.R798*|KDM5B_uc001gyg.1_Nonsense_Mutation_p.R640*	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	798					negative regulation of transcription, DNA-dependent|oxidation-reduction process	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														0.49115	312.899659	312.915359	111	115	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	200978488	200978488	8440	1	G	A	A	38	38	KDM5B	A	5	1
RABIF	5877	broad.mit.edu	36	1	201116762	201116762	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201116762G>T	uc001gyl.1	-	c.339C>A	c.(337-339)TTC>TTA	p.F113L		NM_002871	NP_002862	P47224	MSS4_HUMAN	RAB-interacting factor	113					cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding				0														0.403162	260.729763	262.821255	102	151	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	201116762	201116762	13428	1	G	T	T	33	33	RABIF	T	3	3
KLHL12	59349	broad.mit.edu	36	1	201128292	201128292	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201128292C>T	uc001gyo.1	-	c.1699G>A	c.(1699-1701)GAG>AAG	p.E567K	KLHL12_uc001gym.1_3'UTR|KLHL12_uc001gyn.1_3'UTR	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	567	Kelch 6.|Interaction with DVL3.				Wnt receptor signaling pathway		protein binding				0														0.227273	87.214038	99.227063	40	136	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	201128292	201128292	8680	1	C	T	T	31	31	KLHL12	T	1	1
KLHL12	59349	broad.mit.edu	36	1	201128358	201128358	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201128358C>T	uc001gyo.1	-	c.1633G>A	c.(1633-1635)GAC>AAC	p.D545N	KLHL12_uc001gym.1_3'UTR|KLHL12_uc001gyn.1_3'UTR	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	545	Kelch 6.|Interaction with DVL3.				Wnt receptor signaling pathway		protein binding				0														0.441558	191.172258	191.631274	68	86	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	201128358	201128358	8680	1	C	T	T	31	31	KLHL12	T	1	1
PPFIA4	8497	broad.mit.edu	36	1	201299753	201299753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201299753C>T	uc001gyz.1	+	c.1531C>T	c.(1531-1533)CGA>TGA	p.R511*	PPFIA4_uc009xaj.1_Nonsense_Mutation_p.R1142*|PPFIA4_uc001gza.1_Nonsense_Mutation_p.R398*|PPFIA4_uc001gzb.1_Nonsense_Mutation_p.R197*|PPFIA4_uc001gzc.1_Nonsense_Mutation_p.R53*	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	511	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5														0.475	105.940767	105.984345	38	42	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	201299753	201299753	12742	1	C	T	T	31	31	PPFIA4	T	5	1
ADORA1	134	broad.mit.edu	36	1	201364929	201364929	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201364929C>A	uc001gze.1	+	c.337C>A	c.(337-339)CTC>ATC	p.L113I	ADORA1_uc001gzf.1_Missense_Mutation_p.L113I|ADORA1_uc009xak.1_5'UTR	NM_000674	NP_001041695	P30542	AA1R_HUMAN	adenosine A1 receptor	113	Cytoplasmic (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)									0.5	308.276148	308.276148	115	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	201364929	201364929	327	1	C	A	A	32	32	ADORA1	A	3	3
MYBPH	4608	broad.mit.edu	36	1	201407777	201407777	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201407777G>A	uc001gzh.1	-	c.523C>T	c.(523-525)CGT>TGT	p.R175C		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	175	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0						NSCLC(32;174 1025 14462 23899 42933)								0.384615	29.346516	29.648977	10	16	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	Missense_Mutation	SNP	201407777	201407777	10409	1	G	A	A	39	39	MYBPH	A	1	1
MYBPH	4608	broad.mit.edu	36	1	201410292	201410292	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201410292G>A	uc001gzh.1	-	c.397C>T	c.(397-399)CGG>TGG	p.R133W		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	133	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0						NSCLC(32;174 1025 14462 23899 42933)								0.323529	53.222962	55.104697	22	46	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	Missense_Mutation	SNP	201410292	201410292	10409	1	G	A	A	38	38	MYBPH	A	1	1
FMOD	2331	broad.mit.edu	36	1	201578139	201578139	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201578139G>A	uc001gzr.1	-	c.1086C>T	c.(1084-1086)GCC>GCT	p.A362A		NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	362	LRR 11.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3												OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.518868	171.629195	171.66224	55	51	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.171)		Silent	SNP	201578139	201578139	6201	1	G	A	A	39	39	FMOD	A	1	1
OPTC	26254	broad.mit.edu	36	1	201734518	201734518	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201734518C>T	uc001gzu.1	+	c.457C>T	c.(457-459)CGG>TGG	p.R153W		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	153	LRRNT.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0														0.198198	40.482686	49.905481	22	89	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.109)		Missense_Mutation	SNP	201734518	201734518	11294	1	C	T	T	31	31	OPTC	T	1	1
ATP2B4	493	broad.mit.edu	36	1	201942967	201942967	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201942967C>A	uc001gzw.1	+	c.1307C>A	c.(1306-1308)TCT>TAT	p.S436Y	ATP2B4_uc001gzv.1_Missense_Mutation_p.S436Y|ATP2B4_uc009xaq.1_Missense_Mutation_p.S436Y	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	436	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)	2	all_cancers(21;0.071)|all_epithelial(62;0.228)													0.20339	65.281802	79.761293	36	141	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.109)		Missense_Mutation	SNP	201942967	201942967	1161	1	C	A	A	32	32	ATP2B4	A	3	3
ZC3H11A	9877	broad.mit.edu	36	1	202065923	202065923	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:202065923G>A	uc001hac.1	+	c.669G>A	c.(667-669)AAG>AAA	p.K223K	ZC3H11A_uc001had.1_Silent_p.K223K|ZC3H11A_uc001hae.1_Silent_p.K223K|ZC3H11A_uc001haf.1_Silent_p.K223K|ZC3H11A_uc009xas.1_Silent_p.K223K|ZC3H11A_uc001hag.1_Silent_p.K223K	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	223							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)													0.25	130.389907	142.214063	52	156	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.109)		Silent	SNP	202065923	202065923	18148	1	G	A	A	33	33	ZC3H11A	A	2	2
ETNK2	55224	broad.mit.edu	36	1	202382491	202382491	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:202382491C>A	uc001hao.2	-	c.543G>T	c.(541-543)AAG>AAT	p.K181N	ETNK2_uc001han.2_Missense_Mutation_p.K181N|ETNK2_uc009xat.1_Missense_Mutation_p.K181N	NM_018208	NP_060678	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	181							ATP binding|choline kinase activity|ethanolamine kinase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)													0.451128	162.781276	163.057527	60	73	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Missense_Mutation	SNP	202382491	202382491	5467	1	C	A	A	32	32	ETNK2	A	3	3
REN	5972	broad.mit.edu	36	1	202396323	202396323	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:202396323C>A	uc001haq.1	-	c.480G>T	c.(478-480)CAG>CAT	p.Q160H		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	160					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			central_nervous_system(1)	1	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)				Aliskiren(DB01258)|Remikiren(DB00212)									0.17757	33.85453	44.337686	19	88	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Missense_Mutation	SNP	202396323	202396323	13693	1	C	A	A	24	24	REN	A	3	3
PLEKHA6	22874	broad.mit.edu	36	1	202484640	202484640	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:202484640G>A	uc001hau.1	-	c.1756C>T	c.(1756-1758)CGA>TGA	p.R586*		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	586										ovary(2)|pancreas(1)	3	all_cancers(21;0.0222)|Breast(84;0.179)													0.476636	139.608703	139.659886	51	56	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		Nonsense_Mutation	SNP	202484640	202484640	12486	1	G	A	A	38	38	PLEKHA6	A	5	1
PLEKHA6	22874	broad.mit.edu	36	1	202493595	202493595	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:202493595G>A	uc001hau.1	-	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	PLEKHA6_uc009xaw.1_5'UTR|PLEKHA6_uc009xax.1_5'UTR|PLEKHA6_uc009xay.1_5'UTR|PLEKHA6_uc009xaz.1_5'UTR|PLEKHA6_uc009xba.1_5'UTR|PLEKHA6_uc009xbb.1_5'UTR|PLEKHA6_uc009xbc.1_5'UTR	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	345	Pro-rich.									ovary(2)|pancreas(1)	3	all_cancers(21;0.0222)|Breast(84;0.179)													0.375	61.583841	62.461429	24	40	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		Missense_Mutation	SNP	202493595	202493595	12486	1	G	A	A	37	37	PLEKHA6	A	1	1
PPP1R15B	84919	broad.mit.edu	36	1	202645490	202645490	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:202645490G>A	uc001hav.2	-	c.1673C>T	c.(1672-1674)TCA>TTA	p.S558L		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	558					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)													0.192547	58.321706	72.544462	31	130	GG		KEEP	---	---	---	---	capture	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		Missense_Mutation	SNP	202645490	202645490	12799	1	G	A	A	45	45	PPP1R15B	A	2	2
PIK3C2B	5287	broad.mit.edu	36	1	202681757	202681757	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:202681757C>A	uc001haw.1	-	c.2628G>T	c.(2626-2628)AAG>AAT	p.K876N		NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2, beta	876					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|central_nervous_system(1)	3	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)									466		OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.246057	173.176337	191.806209	78	239	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		Missense_Mutation	SNP	202681757	202681757	12334	1	C	A	A	28	28	PIK3C2B	A	3	3
PIK3C2B	5287	broad.mit.edu	36	1	202704640	202704640	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:202704640C>T	uc001haw.1	-	c.914G>A	c.(913-915)CGC>CAC	p.R305H	PIK3C2B_uc001hax.1_Missense_Mutation_p.R305H|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2, beta	305					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|central_nervous_system(1)	3	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)								p.R305H(OE19-Tumor)	466				0.353448	100.430042	102.630981	41	75	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		Missense_Mutation	SNP	202704640	202704640	12334	1	C	T	T	27	27	PIK3C2B	T	1	1
MDM4	4194	broad.mit.edu	36	1	202761323	202761323	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:202761323G>T	uc001hba.1	+	c.54G>T	c.(52-54)AGG>AGT	p.R18S	MDM4_uc001hay.1_Missense_Mutation_p.R18S|MDM4_uc001haz.1_Non-coding_Transcript|MDM4_uc001hbb.1_5'UTR|MDM4_uc001hbc.2_Non-coding_Transcript|MDM4_uc001hbd.1_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	18					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)									191				0.388889	201.102943	203.252618	77	121	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		Missense_Mutation	SNP	202761323	202761323	9803	1	G	T	T	41	41	MDM4	T	3	3
NFASC	23114	broad.mit.edu	36	1	203190631	203190631	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203190631G>A	uc001hbj.1	+	c.464G>A	c.(463-465)GGC>GAC	p.G155D	NFASC_uc001hbh.1_Missense_Mutation_p.G155D|NFASC_uc001hbi.1_Missense_Mutation_p.G149D|NFASC_uc009xbg.1_Missense_Mutation_p.G222D|NFASC_uc001hbk.1_5'Flank	NM_015090	NP_055905	O94856	NFASC_HUMAN	neurofascin precursor	155	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)													0.167558	160.628807	219.306627	94	467	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		Missense_Mutation	SNP	203190631	203190631	10759	1	G	A	A	42	42	NFASC	A	2	2
NFASC	23114	broad.mit.edu	36	1	203193514	203193514	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203193514G>A	uc001hbj.1	+	c.643G>A	c.(643-645)GCC>ACC	p.A215T	NFASC_uc001hbh.1_Missense_Mutation_p.A215T|NFASC_uc001hbi.1_Missense_Mutation_p.A209T|NFASC_uc009xbg.1_Missense_Mutation_p.A282T|NFASC_uc001hbk.1_Missense_Mutation_p.A36T	NM_015090	NP_055905	O94856	NFASC_HUMAN	neurofascin precursor	215	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)													0.245536	112.778599	125.955841	55	169	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		Missense_Mutation	SNP	203193514	203193514	10759	1	G	A	A	38	38	NFASC	A	1	1
NFASC	23114	broad.mit.edu	36	1	203211131	203211131	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203211131C>T	uc001hbj.1	+	c.1668C>T	c.(1666-1668)TCC>TCT	p.S556S	NFASC_uc001hbh.1_Silent_p.S556S|NFASC_uc001hbi.1_Silent_p.S567S|NFASC_uc001hbk.1_Silent_p.S377S	NM_015090	NP_055905	O94856	NFASC_HUMAN	neurofascin precursor	556	Extracellular (Potential).|Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.437126	222.354863	222.929304	73	94	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		Silent	SNP	203211131	203211131	10759	1	C	T	T	24	24	NFASC	T	2	2
NFASC	23114	broad.mit.edu	36	1	203216142	203216142	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203216142A>C	uc001hbj.1	+	c.2198A>C	c.(2197-2199)GAC>GCC	p.D733A	NFASC_uc001hbi.1_Missense_Mutation_p.D729A|NFASC_uc001hbk.1_Missense_Mutation_p.D539A|NFASC_uc001hbl.1_5'Flank	NM_015090	NP_055905	O94856	NFASC_HUMAN	neurofascin precursor	733	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)													0.18	21.14751	25.959918	9	41	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		Missense_Mutation	SNP	203216142	203216142	10759	1	A	C	C	10	10	NFASC	C	4	4
CNTN2	6900	broad.mit.edu	36	1	203300071	203300071	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203300071A>G	uc001hbr.1	+	c.1241_splice	c.e11-2	p.A414_splice	CNTN2_uc001hbq.1_Splice_Site_SNP_p.A305_splice|CNTN2_uc001hbs.1_Splice_Site_SNP_p.A202_splice	NM_005076	NP_005067			contactin 2 precursor						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)					Melanoma(183;2548 2817 37099 41192)								0.212687	284.994925	325.895652	114	422	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		Splice_Site_SNP	SNP	203300071	203300071	3779	1	A	G	G	15	15	CNTN2	G	5	4
CNTN2	6900	broad.mit.edu	36	1	203308242	203308242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203308242C>T	uc001hbr.1	+	c.2740C>T	c.(2740-2742)CGA>TGA	p.R914*	CNTN2_uc001hbq.1_Nonsense_Mutation_p.R805*|CNTN2_uc001hbs.1_Nonsense_Mutation_p.R702*	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	914	Fibronectin type-III 4.				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)					Melanoma(183;2548 2817 37099 41192)								0.202899	50.446607	61.749929	28	110	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		Nonsense_Mutation	SNP	203308242	203308242	3779	1	C	T	T	27	27	CNTN2	T	5	1
RBBP5	5929	broad.mit.edu	36	1	203334800	203334800	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203334800C>A	uc001hbu.1	-	c.1036G>T	c.(1036-1038)GAA>TAA	p.E346*	RBBP5_uc001hbv.1_Nonsense_Mutation_p.E346*	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	346					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	promoter binding|protein binding			lung(1)	1	Breast(84;0.0505)													0.30814	145.812174	151.454863	53	119	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0923)		Nonsense_Mutation	SNP	203334800	203334800	13563	1	C	A	A	31	31	RBBP5	A	5	3
PLA2G2F	64600	broad.mit.edu	36	1	20338595	20338595	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20338595G>A	uc009vpp.1	+	c.88G>A	c.(88-90)GGG>AGG	p.G30R		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	Error:Variant_position_missing_in_Q9BZM2_after_alignment					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)												0.217391	11.862507	13.556231	5	18	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Missense_Mutation	SNP	20338595	20338595	12425	1	G	A	A	39	39	PLA2G2F	A	1	1
DSTYK	25778	broad.mit.edu	36	1	203423362	203423362	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203423362C>T	uc001hbw.1	-	c.461G>A	c.(460-462)CGC>CAC	p.R154H	DSTYK_uc001hbx.1_Missense_Mutation_p.R154H	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	154					protein phosphorylation	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1										236				0.504425	157.262375	157.264215	57	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	203423362	203423362	4969	1	C	T	T	27	27	DSTYK	T	1	1
LEMD1	93273	broad.mit.edu	36	1	203617520	203617520	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203617520C>A	uc001hci.1	-	c.293G>T	c.(292-294)AGA>ATA	p.R98I	LEMD1_uc001hcj.1_Missense_Mutation_p.E145D|LEMD1_uc001hck.1_Non-coding_Transcript|LEMD1_uc001hcl.1_Missense_Mutation_p.E104D|LEMD1_uc001hcm.1_Non-coding_Transcript|LEMD1_uc001hcn.1_Non-coding_Transcript	NM_001001552	NP_001001552	Q68G75	LEMD1_HUMAN	LEM domain containing 1	Error:Variant_position_missing_in_Q68G75_after_alignment						integral to membrane|nuclear envelope					0	Breast(84;0.247)									107				0.201149	125.420852	154.353111	70	278	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0938)		Missense_Mutation	SNP	203617520	203617520	9043	1	C	A	A	32	32	LEMD1	A	3	3
CDK18	5129	broad.mit.edu	36	1	203763820	203763820	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203763820T>C	uc001hcr.1	+	c.965T>C	c.(964-966)GTG>GCG	p.V322A	CDK18_uc001hcp.1_Missense_Mutation_p.V292A|CDK18_uc001hcq.1_Missense_Mutation_p.V292A|CDK18_uc001hcs.1_Missense_Mutation_p.V203A|CDK18_uc009xbm.1_Missense_Mutation_p.V217A|CDK18_uc001hct.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	290	Protein kinase.				protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity				0						Pancreas(180;489 2072 28461 40831 44265)				699				0.205357	47.363655	56.384714	23	89	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	203763820	203763820	3263	1	T	C	C	59	59	CDK18	C	4	4
ELK4	2005	broad.mit.edu	36	1	203856218	203856218	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203856218C>T	uc001hcy.1	-	c.579G>A	c.(577-579)ACG>ACA	p.T193T	ELK4_uc009xbo.1_Non-coding_Transcript|ELK4_uc001hcz.1_Silent_p.T193T	NM_001973	NP_001964	P28324	ELK4_HUMAN	ELK4 protein isoform a	193					regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity				0	Breast(84;0.07)									4				0.419847	148.495027	149.230395	55	76	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0908)		Silent	SNP	203856218	203856218	5253	1	C	T	T	31	31	ELK4	T	1	1
ELK4	2005	broad.mit.edu	36	1	203856354	203856354	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203856354G>A	uc001hcy.1	-	c.443C>T	c.(442-444)TCT>TTT	p.S148F	ELK4_uc009xbo.1_Non-coding_Transcript|ELK4_uc001hcz.1_Missense_Mutation_p.S148F	NM_001973	NP_001964	P28324	ELK4_HUMAN	ELK4 protein isoform a	148					regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity				0	Breast(84;0.07)									4				0.324841	139.764413	144.042259	51	106	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0908)		Missense_Mutation	SNP	203856354	203856354	5253	1	G	A	A	33	33	ELK4	A	2	2
SLC45A3	85414	broad.mit.edu	36	1	203895142	203895142	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:203895142G>A	uc001hda.1	-	c.1505C>T	c.(1504-1506)TCC>TTC	p.S502F		NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	502					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)									123		OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.441667	147.564561	147.918584	53	67	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0194)		Missense_Mutation	SNP	203895142	203895142	15139	1	G	A	A	41	41	SLC45A3	A	2	2
UBXN10	127733	broad.mit.edu	36	1	20390072	20390072	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20390072G>T	uc001bdb.1	+	c.431G>T	c.(430-432)AGT>ATT	p.S144I	UBXN10_uc009vpr.1_Missense_Mutation_p.S144I	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	144										ovary(1)	1														0.46	202.691307	202.894892	69	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20390072	20390072	17470	1	G	T	T	36	36	UBXN10	T	3	3
SLC41A1	254428	broad.mit.edu	36	1	204045899	204045899	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204045899G>A	uc001hdh.1	-	c.294C>T	c.(292-294)ATC>ATT	p.I98I		NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	98						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity				0	Breast(84;0.0799)													0.425	282.213055	283.388981	102	138	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0252)		Silent	SNP	204045899	204045899	15126	1	G	A	A	37	37	SLC41A1	A	1	1
C1orf186	440712	broad.mit.edu	36	1	204406154	204406154	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204406154C>T	uc001hdt.1	-	c.367G>A	c.(367-369)GAA>AAA	p.E123K		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	hypothetical protein LOC440712	123						integral to membrane					0														0.177083	35.814389	45.246226	17	79	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0754)		Missense_Mutation	SNP	204406154	204406154	2088	1	C	T	T	32	32	C1orf186	T	2	2
CTSE	1510	broad.mit.edu	36	1	204484207	204484207	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204484207C>T	uc001hdu.1	+	c.8C>T	c.(7-9)ACG>ATG	p.T3M	CTSE_uc001hdv.1_Missense_Mutation_p.T3M	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	3					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1														0.181034	36.637092	47.709551	21	95	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0754)		Missense_Mutation	SNP	204484207	204484207	4192	1	C	T	T	19	19	CTSE	T	1	1
CTSE	1510	broad.mit.edu	36	1	204485784	204485784	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204485784G>A	uc001hdu.1	+	c.286G>A	c.(286-288)GAC>AAC	p.D96N	CTSE_uc001hdv.1_Missense_Mutation_p.D96N	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	96		By similarity.			antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1														0.463235	172.241279	172.396573	63	73	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0754)		Missense_Mutation	SNP	204485784	204485784	4192	1	G	A	A	37	37	CTSE	A	1	1
CTSE	1510	broad.mit.edu	36	1	204495471	204495471	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204495471C>T	uc001hdu.1	+	c.915C>T	c.(913-915)CCC>CCT	p.P305P	CTSE_uc001hdv.1_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	310					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1														0.421053	138.681014	139.299755	48	66	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0754)		Silent	SNP	204495471	204495471	4192	1	C	T	T	23	23	CTSE	T	1	1
RASSF5	83593	broad.mit.edu	36	1	204747892	204747892	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204747892G>T	uc001hed.1	+	c.334G>T	c.(334-336)GAT>TAT	p.D112Y	RASSF5_uc001hec.1_Missense_Mutation_p.D112Y|RASSF5_uc001hee.1_Missense_Mutation_p.D112Y	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family 5	112					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			ovary(1)	1	Breast(84;0.183)					GBM(162;656 1984 11916 22872 31529)								0.444444	10.497615	10.52198	4	5	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	204747892	204747892	13550	1	G	T	T	41	41	RASSF5	T	3	3
DYRK3	8444	broad.mit.edu	36	1	204888756	204888756	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204888756C>A	uc001hej.1	+	c.1590C>A	c.(1588-1590)CTC>CTA	p.L530L	DYRK3_uc001hei.1_Silent_p.L510L|DYRK3_uc001hek.2_Intron	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	530					erythrocyte differentiation|protein phosphorylation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(1)|central_nervous_system(1)	2	Breast(84;0.183)					Melanoma(164;427 2622 26826 51707)				219				0.376471	162.337279	164.621342	64	106	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Silent	SNP	204888756	204888756	5043	1	C	A	A	29	29	DYRK3	A	3	3
IL24	11009	broad.mit.edu	36	1	205140320	205140320	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205140320G>A	uc001heu.1	+	c.301G>A	c.(301-303)GTC>ATC	p.V101I	IL24_uc001hes.1_Missense_Mutation_p.V100I|IL24_uc001het.1_5'UTR|IL24_uc001hev.1_Non-coding_Transcript|IL24_uc001hew.1_Missense_Mutation_p.V101I|IL24_uc001hex.1_Non-coding_Transcript	NM_006850	NP_006841	Q13007	IL24_HUMAN	interleukin 24 isoform 1 precursor	100					apoptosis	extracellular space	cytokine activity				0	Breast(84;0.201)													0.444444	204.363435	204.82486	76	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205140320	205140320	7978	1	G	A	A	40	40	IL24	A	1	1
FAIM3	9214	broad.mit.edu	36	1	205144987	205144987	+	Nonstop_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205144987T>C	uc001hey.1	-	c.1173A>G	c.(1171-1173)TGA>TGG	p.*391W		NM_005449	NP_005440	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3 isoform a	391					anti-apoptosis|cellular defense response	integral to membrane				central_nervous_system(1)	1	Breast(84;0.201)													0.396226	344.136666	346.628361	105	160	TT		KEEP	---	---	---	---	capture			Nonstop_Mutation	SNP	205144987	205144987	5574	1	T	C	C	58	58	FAIM3	C	5	4
PIGR	5284	broad.mit.edu	36	1	205171744	205171744	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205171744T>C	uc001hez.1	-	c.2035A>G	c.(2035-2037)ACA>GCA	p.T679A	PIGR_uc009xbz.1_Missense_Mutation_p.T679A	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	679	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2														0.481203	412.521172	412.609359	128	138	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205171744	205171744	12321	1	T	C	C	58	58	PIGR	C	4	4
PIGR	5284	broad.mit.edu	36	1	205174520	205174520	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205174520G>A	uc001hez.1	-	c.1573C>T	c.(1573-1575)CGG>TGG	p.R525W	PIGR_uc009xbz.1_Missense_Mutation_p.R525W	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	525	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2														0.142857	57.176078	89.870643	38	228	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205174520	205174520	12321	1	G	A	A	39	39	PIGR	A	1	1
C1orf116	79098	broad.mit.edu	36	1	205262024	205262024	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205262024G>T	uc001hfd.2	-	c.1708C>A	c.(1708-1710)CCT>ACT	p.P570T	C1orf116_uc009xcb.1_Missense_Mutation_p.P324T	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	570						cytoplasm|plasma membrane	receptor activity			ovary(1)|central_nervous_system(1)	2	Prostate(682;0.19)													0.136	18.380946	34.441704	17	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205262024	205262024	2056	1	G	T	T	41	41	C1orf116	T	3	3
C1orf116	79098	broad.mit.edu	36	1	205262555	205262555	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205262555G>A	uc001hfd.2	-	c.1177C>T	c.(1177-1179)CCT>TCT	p.P393S	C1orf116_uc009xcb.1_Missense_Mutation_p.P147S	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	393	Ala-rich.					cytoplasm|plasma membrane	receptor activity			ovary(1)|central_nervous_system(1)	2	Prostate(682;0.19)													0.493151	203.463614	203.470034	72	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205262555	205262555	2056	1	G	A	A	42	42	C1orf116	A	2	2
PFKFB2	5208	broad.mit.edu	36	1	205309480	205309480	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205309480G>A	uc001hfg.1	+	c.1076G>A	c.(1075-1077)CGA>CAA	p.R359Q	PFKFB2_uc001hfh.1_Missense_Mutation_p.R359Q|PFKFB2_uc009xcc.1_Missense_Mutation_p.R317Q	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	359	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)													0.241206	110.219907	122.367497	48	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205309480	205309480	12183	1	G	A	A	37	37	PFKFB2	A	1	1
CD55	1604	broad.mit.edu	36	1	205562503	205562503	+	Missense_Mutation	SNP	G	A	A	rs55970992	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205562503G>A	uc001hfp.2	+	c.254G>A	c.(253-255)AGT>AAT	p.S85N	CD55_uc001hfr.2_Missense_Mutation_p.S85N|CD55_uc001hfq.2_Missense_Mutation_p.S85N|CD55_uc001hfs.2_Non-coding_Transcript|CD55_uc009xce.1_Missense_Mutation_p.S85N|CD55_uc001hft.2_Non-coding_Transcript|CD55_uc009xcf.1_Missense_Mutation_p.S85N	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	85	Sushi 1.			S -> M (in Ref. 8; AAA52167).	complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction				ovary(1)	1					Chloramphenicol(DB00446)									0.207317	72.851232	85.876	34	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205562503	205562503	3152	1	G	A	A	36	36	CD55	A	2	2
CR2	1380	broad.mit.edu	36	1	205706548	205706548	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205706548C>A	uc001hfv.1	+	c.113C>A	c.(112-114)TCT>TAT	p.S38Y	CR2_uc001hfw.1_Missense_Mutation_p.S38Y|CR2_uc009xch.1_Missense_Mutation_p.S38Y	NM_001006658	NP_001006659	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	38	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)	3														0.20155	140.557974	172.697522	78	309	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205706548	205706548	3981	1	C	A	A	32	32	CR2	A	3	3
CR2	1380	broad.mit.edu	36	1	205709947	205709947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205709947C>T	uc001hfv.1	+	c.1102C>T	c.(1102-1104)CGA>TGA	p.R368*	CR2_uc001hfw.1_Nonsense_Mutation_p.R368*|CR2_uc009xch.1_Nonsense_Mutation_p.R368*|CR2_uc009xci.1_5'Flank	NM_001006658	NP_001006659	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	368	Sushi 6.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)	3														0.161677	45.019264	63.204643	27	140	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	205709947	205709947	3981	1	C	T	T	31	31	CR2	T	5	1
CR2	1380	broad.mit.edu	36	1	205713002	205713002	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205713002C>T	uc001hfv.1	+	c.1833C>T	c.(1831-1833)TAC>TAT	p.Y611Y	CR2_uc001hfw.1_Silent_p.Y611Y|CR2_uc009xch.1_Silent_p.Y611Y|CR2_uc009xci.1_Silent_p.Y96Y	NM_001006658	NP_001006659	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	611	Sushi 10.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)	3														0.203046	74.018676	90.156418	40	157	CC		KEEP	---	---	---	---	capture			Silent	SNP	205713002	205713002	3981	1	C	T	T	17	17	CR2	T	2	2
CR2	1380	broad.mit.edu	36	1	205713096	205713096	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205713096C>T	uc001hfv.1	+	c.1927C>T	c.(1927-1929)CGT>TGT	p.R643C	CR2_uc001hfw.1_Missense_Mutation_p.R643C|CR2_uc009xch.1_Missense_Mutation_p.R643C|CR2_uc009xci.1_Missense_Mutation_p.R128C	NM_001006658	NP_001006659	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	643	Sushi 10.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)	3														0.384956	239.768129	242.391124	87	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205713096	205713096	3981	1	C	T	T	31	31	CR2	T	1	1
CR1	1378	broad.mit.edu	36	1	205736249	205736249	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205736249C>A	uc001hfx.1	+	c.14C>A	c.(13-15)TCT>TAT	p.S5Y	CR1_uc009xcj.1_Missense_Mutation_p.S5Y|CR1_uc009xck.1_Missense_Mutation_p.S5Y|CR1_uc009xcl.1_Missense_Mutation_p.S5Y|CR1_uc001hfy.1_Missense_Mutation_p.S5Y	NM_000651	NP_000642	P17927	CR1_HUMAN	complement receptor 1 isoform S precursor	5					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.192982	35.668196	45.723758	22	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205736249	205736249	3979	1	C	A	A	32	32	CR1	A	3	3
CR1	1378	broad.mit.edu	36	1	205803939	205803939	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205803939C>A	uc001hfx.1	+	c.3694C>A	c.(3694-3696)CTC>ATC	p.L1232I	CR1_uc009xck.1_Intron|CR1_uc009xcl.1_Intron|CR1_uc001hfy.1_Missense_Mutation_p.L782I	NM_000651	NP_000642	P17927	CR1_HUMAN	complement receptor 1 isoform S precursor	782	Sushi 12.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.331551	156.075119	160.782427	62	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205803939	205803939	3979	1	C	A	A	24	24	CR1	A	3	3
CR1	1378	broad.mit.edu	36	1	205807810	205807810	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205807810C>A	uc001hfx.1	+	c.3971C>A	c.(3970-3972)CCT>CAT	p.P1324H	CR1_uc009xck.1_Missense_Mutation_p.P424H|CR1_uc009xcl.1_Missense_Mutation_p.P424H|CR1_uc001hfy.1_Missense_Mutation_p.P874H	NM_000651	NP_000642	P17927	CR1_HUMAN	complement receptor 1 isoform S precursor	874	Extracellular (Potential).|Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.167513	55.846177	76.492651	33	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205807810	205807810	3979	1	C	A	A	24	24	CR1	A	3	3
CR1	1378	broad.mit.edu	36	1	205818043	205818043	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205818043G>T	uc001hfx.1	+	c.4808G>T	c.(4807-4809)AGA>ATA	p.R1603I	CR1_uc009xcl.1_Missense_Mutation_p.R703I|CR1_uc001hfy.1_Missense_Mutation_p.R1153I	NM_000651	NP_000642	P17927	CR1_HUMAN	complement receptor 1 isoform S precursor	1153	Extracellular (Potential).|Sushi 18.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.435798	300.733253	301.661375	112	145	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205818043	205818043	3979	1	G	T	T	33	33	CR1	T	3	3
CR1	1378	broad.mit.edu	36	1	205828730	205828730	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205828730C>T	uc001hfx.1	+	c.5798C>T	c.(5797-5799)TCT>TTT	p.S1933F	CR1_uc009xcl.1_Missense_Mutation_p.S1033F|CR1_uc001hfy.1_Missense_Mutation_p.S1483F	NM_000651	NP_000642	P17927	CR1_HUMAN	complement receptor 1 isoform S precursor	1483	Extracellular (Potential).|Sushi 23.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.261905	28.90489	31.059775	11	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205828730	205828730	3979	1	C	T	T	32	32	CR1	T	2	2
CD34	947	broad.mit.edu	36	1	206128681	206128681	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:206128681C>T	uc001hgw.1	-	c.941G>A	c.(940-942)CGC>CAC	p.R314H	CD34_uc001hgv.1_Missense_Mutation_p.R156H|CD34_uc001hgx.1_Missense_Mutation_p.R314H	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	314	Cytoplasmic (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	external side of plasma membrane|integral to membrane	carbohydrate binding			ovary(1)	1														0.427649	879.694316	883.222977	331	443	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	206128681	206128681	3134	1	C	T	T	27	27	CD34	T	1	1
PLXNA2	5362	broad.mit.edu	36	1	206285962	206285962	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:206285962G>A	uc001hgz.1	-	c.3379C>T	c.(3379-3381)CAA>TAA	p.Q1127*		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2	1127	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)	2														0.142857	35.876447	56.539827	24	144	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.199)	Nonsense_Mutation	SNP	206285962	206285962	12546	1	G	A	A	47	47	PLXNA2	A	5	2
PLXNA2	5362	broad.mit.edu	36	1	206294483	206294483	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:206294483G>A	uc001hgz.1	-	c.2762C>T	c.(2761-2763)GCC>GTC	p.A921V		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2	921	Extracellular (Potential).|IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)	2														0.219512	54.952985	63.874909	27	96	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.199)	Missense_Mutation	SNP	206294483	206294483	12546	1	G	A	A	42	42	PLXNA2	A	2	2
LAMB3	3914	broad.mit.edu	36	1	207863920	207863920	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:207863920C>T	uc001hhg.1	-	c.2025G>A	c.(2023-2025)ACG>ACA	p.T675T	LAMB3_uc009xco.1_Silent_p.T675T|LAMB3_uc001hhh.1_Silent_p.T675T	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	675	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|large_intestine(1)|ovary(1)	4														0.435185	256.640572	257.424655	94	122	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	Silent	SNP	207863920	207863920	8935	1	C	T	T	19	19	LAMB3	T	1	1
TRAF3IP3	80342	broad.mit.edu	36	1	208000156	208000156	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208000156G>T	uc001hho.1	+	c.149G>T	c.(148-150)AGG>ATG	p.R50M	TRAF3IP3_uc001hhl.1_Missense_Mutation_p.R50M|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R50M|TRAF3IP3_uc001hhn.1_Missense_Mutation_p.R50M|TRAF3IP3_uc009xcr.1_Missense_Mutation_p.R50M	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	50	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2														0.443038	92.386333	92.613421	35	44	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.045)	Missense_Mutation	SNP	208000156	208000156	16986	1	G	T	T	35	35	TRAF3IP3	T	3	3
C1orf74	148304	broad.mit.edu	36	1	208023264	208023264	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208023264G>T	uc001hhp.1	-	c.339C>A	c.(337-339)GCC>GCA	p.A113A	C1orf74_uc009xcs.1_Silent_p.A113A	NM_152485	NP_689698	Q96LT6	CA074_HUMAN	hypothetical protein LOC148304	113											0														0.215054	40.442739	47.419728	20	73	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	Silent	SNP	208023264	208023264	2134	1	G	T	T	35	35	C1orf74	T	3	3
IRF6	3664	broad.mit.edu	36	1	208028404	208028404	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208028404G>A	uc001hhq.1	-	c.1388C>T	c.(1387-1389)GCC>GTC	p.A463V	IRF6_uc009xct.1_Missense_Mutation_p.A463V	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	463					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2														0.533333	280.58785	280.760365	96	84	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	Missense_Mutation	SNP	208028404	208028404	8137	1	G	A	A	42	42	IRF6	A	2	2
IRF6	3664	broad.mit.edu	36	1	208028513	208028513	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208028513C>A	uc001hhq.1	-	c.1279G>T	c.(1279-1281)GAC>TAC	p.D427Y	IRF6_uc009xct.1_Missense_Mutation_p.D427Y	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	427					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2														0.479452	182.303676	182.358831	70	76	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	Missense_Mutation	SNP	208028513	208028513	8137	1	C	A	A	32	32	IRF6	A	3	3
IRF6	3664	broad.mit.edu	36	1	208030622	208030622	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208030622C>A	uc001hhq.1	-	c.901G>T	c.(901-903)GGA>TGA	p.G301*	IRF6_uc009xct.1_Nonsense_Mutation_p.G301*	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	301					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2														0.19186	57.386318	72.650216	33	139	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	Nonsense_Mutation	SNP	208030622	208030622	8137	1	C	A	A	24	24	IRF6	A	5	3
IRF6	3664	broad.mit.edu	36	1	208036445	208036445	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208036445G>A	uc001hhq.1	-	c.250C>T	c.(250-252)CGC>TGC	p.R84C	IRF6_uc009xct.1_Missense_Mutation_p.R84C	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	84	IRF tryptophan pentad repeat.		R -> G (in VWS; abrogates DNA binding).|R -> H (in PPS; abrogates DNA binding).|R -> C (in PPS; abrogates DNA binding).|R -> L (in PPS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2														0.34965	126.997128	129.853471	50	93	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	Missense_Mutation	SNP	208036445	208036445	8137	1	G	A	A	38	38	IRF6	A	1	1
IRF6	3664	broad.mit.edu	36	1	208041284	208041284	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208041284G>T	uc001hhq.1	-	c.98C>A	c.(97-99)TCT>TAT	p.S33Y	IRF6_uc009xct.1_Missense_Mutation_p.S33Y	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	33	IRF tryptophan pentad repeat.				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2														0.220641	122.874777	143.091073	62	219	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	Missense_Mutation	SNP	208041284	208041284	8137	1	G	T	T	33	33	IRF6	T	3	3
C1orf107	27042	broad.mit.edu	36	1	208083453	208083453	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208083453T>C	uc001hhr.1	+	c.1816T>C	c.(1816-1818)TAT>CAT	p.Y606H	C1orf107_uc009xcu.1_Missense_Mutation_p.Y321H	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	606					multicellular organismal development	nucleus					0														0.422222	127.251081	127.722096	38	52	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	Missense_Mutation	SNP	208083453	208083453	2048	1	T	C	C	57	57	C1orf107	C	4	4
PINK1	65018	broad.mit.edu	36	1	20843649	20843649	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20843649C>T	uc001bdm.1	+	c.856C>T	c.(856-858)CCG>TCG	p.P286S	PINK1_uc001bdn.1_5'Flank	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	286	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)				Esophageal Squamous(145;853 1803 8146 34412 35011)				367				0.23506	129.012407	145.1211	59	192	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	Missense_Mutation	SNP	20843649	20843649	12356	1	C	T	T	26	26	PINK1	T	2	2
PINK1	65018	broad.mit.edu	36	1	20847680	20847680	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20847680C>T	uc001bdm.1	+	c.1219C>T	c.(1219-1221)CGG>TGG	p.R407W	PINK1_uc001bdn.1_Missense_Mutation_p.R100W	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	407	Protein kinase.|Cytoplasmic (Potential).		R -> Q (in PARK6; early-onset).		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)				Esophageal Squamous(145;853 1803 8146 34412 35011)				367				0.349515	92.265634	94.325069	36	67	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	Missense_Mutation	SNP	20847680	20847680	12356	1	C	T	T	31	31	PINK1	T	1	1
SERTAD4	56256	broad.mit.edu	36	1	208479496	208479496	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208479496A>G	uc001hhy.1	+	c.211A>G	c.(211-213)ACA>GCA	p.T71A	SERTAD4_uc009xcw.1_Missense_Mutation_p.T71A	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	71							protein binding			ovary(1)|pancreas(1)	2														0.206612	66.148038	75.770807	25	96	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	Missense_Mutation	SNP	208479496	208479496	14611	1	A	G	G	2	2	SERTAD4	G	4	4
DDOST	1650	broad.mit.edu	36	1	20851536	20851536	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20851536C>T	uc009vpw.1	-	c.1303G>A	c.(1303-1305)GCC>ACC	p.A435T	DDOST_uc001bdo.1_Missense_Mutation_p.A432T	NM_005216	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide-protein	432	Helical; (Potential).				innate immune response|post-translational protein modification|protein N-linked glycosylation via asparagine|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)												0.243243	56.159137	62.841595	27	84	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	Missense_Mutation	SNP	20851536	20851536	4506	1	C	T	T	27	27	DDOST	T	1	1
KIF17	57576	broad.mit.edu	36	1	20886714	20886714	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20886714G>T	uc001bdr.2	-	c.1692C>A	c.(1690-1692)GTC>GTA	p.V564V	KIF17_uc001bdp.2_5'Flank|KIF17_uc001bdq.2_5'Flank|KIF17_uc009vpx.1_Intron|KIF17_uc001bds.2_Silent_p.V564V	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	564					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)	3		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)												0.543689	154.076422	154.244736	56	47	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	Silent	SNP	20886714	20886714	8590	1	G	T	T	33	33	KIF17	T	3	3
KIF17	57576	broad.mit.edu	36	1	20886875	20886875	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20886875C>T	uc001bdr.2	-	c.1531G>A	c.(1531-1533)GAT>AAT	p.D511N	KIF17_uc001bdp.2_5'Flank|KIF17_uc001bdq.2_5'Flank|KIF17_uc009vpx.1_Intron|KIF17_uc001bds.2_Missense_Mutation_p.D511N	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	511					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)	3		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)												0.386861	289.694019	292.764138	106	168	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	Missense_Mutation	SNP	20886875	20886875	8590	1	C	T	T	31	31	KIF17	T	1	1
SH2D5	400745	broad.mit.edu	36	1	20926099	20926099	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20926099G>T	uc009vpy.1	-	c.225C>A	c.(223-225)ATC>ATA	p.I75I	SH2D5_uc001bdt.1_5'UTR|SH2D5_uc001bdu.1_Intron	NM_001103161	NP_001096631	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 1	Error:Variant_position_missing_in_Q6ZV89_after_alignment											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)												0.485714	46.368651	46.375021	17	18	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	20926099	20926099	14728	1	G	T	T	33	33	SH2D5	T	3	3
HP1BP3	50809	broad.mit.edu	36	1	20944099	20944099	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20944099T>C	uc001bdw.1	-	c.1440A>G	c.(1438-1440)GCA>GCG	p.A480A	HP1BP3_uc001bdv.1_Silent_p.A442A|HP1BP3_uc001bdx.1_Silent_p.A328A|HP1BP3_uc001bdy.1_Silent_p.A480A	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	480	Lys-rich.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)												0.42623	320.675017	321.829001	104	140	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	Silent	SNP	20944099	20944099	7620	1	T	C	C	59	59	HP1BP3	C	4	4
RCOR3	55758	broad.mit.edu	36	1	209518137	209518137	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:209518137C>A	uc001hig.1	+	c.398C>A	c.(397-399)ACT>AAT	p.T133N	RCOR3_uc001hie.1_Missense_Mutation_p.T191N|RCOR3_uc001hif.1_Missense_Mutation_p.T191N	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	133	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1														0.195652	77.417193	93.289455	36	148	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	Missense_Mutation	SNP	209518137	209518137	13653	1	C	A	A	20	20	RCOR3	A	3	3
TRAF5	7188	broad.mit.edu	36	1	209596433	209596433	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:209596433G>T	uc001hih.1	+	c.378G>T	c.(376-378)CAG>CAT	p.Q126H	TRAF5_uc001hii.1_Missense_Mutation_p.Q126H|TRAF5_uc001hij.1_Missense_Mutation_p.Q126H	NM_004619	NP_665702	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	126					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|cytoplasm|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1														0.510526	281.159125	281.176947	97	93	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	Missense_Mutation	SNP	209596433	209596433	16988	1	G	T	T	35	35	TRAF5	T	3	3
NEK2	4751	broad.mit.edu	36	1	209909231	209909231	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:209909231C>T	uc001hir.1	-	c.832G>A	c.(832-834)GAG>AAG	p.E278K	NEK2_uc001hiq.1_Missense_Mutation_p.E278K|NEK2_uc001his.2_Missense_Mutation_p.E278K|NEK2_uc001hit.1_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2	278					cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity				0														0.409396	342.08333	344.222492	122	176	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	Missense_Mutation	SNP	209909231	209909231	10723	1	C	T	T	31	31	NEK2	T	1	1
INTS7	25896	broad.mit.edu	36	1	210260141	210260141	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:210260141C>A	uc001hiw.1	-	c.317G>T	c.(316-318)AGA>ATA	p.R106I	INTS7_uc009xdb.1_Missense_Mutation_p.R106I|INTS7_uc001hix.1_5'UTR|INTS7_uc001hiy.1_Missense_Mutation_p.R106I	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	106					snRNA processing	integrator complex	protein binding				0														0.175824	26.943408	35.963401	16	75	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	Missense_Mutation	SNP	210260141	210260141	8084	1	C	A	A	32	32	INTS7	A	3	3
DTL	51514	broad.mit.edu	36	1	210340988	210340988	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:210340988G>A	uc009xdc.1	+	c.2033G>A	c.(2032-2034)CGA>CAA	p.R678Q	DTL_uc001hiz.2_Missense_Mutation_p.R407Q	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	678					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0														0.194175	37.739645	46.731207	20	83	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	Missense_Mutation	SNP	210340988	210340988	4972	1	G	A	A	37	37	DTL	A	1	1
TMEM206	55248	broad.mit.edu	36	1	210619935	210619935	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:210619935C>T	uc001hjc.2	-	c.563G>A	c.(562-564)CGC>CAC	p.R188H		NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	188	Extracellular (Potential).					integral to membrane				breast(1)	1														0.403922	272.618494	274.68847	103	152	CC		KEEP	---	---	---	---	capture		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	Missense_Mutation	SNP	210619935	210619935	16666	1	C	T	T	27	27	TMEM206	T	1	1
FAM71A	149647	broad.mit.edu	36	1	210864949	210864949	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:210864949A>G	uc001hjk.1	+	c.107A>G	c.(106-108)GAG>GGG	p.E36G		NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	36										ovary(1)|central_nervous_system(1)	2														0.22293	95.864736	106.930866	35	122	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	Missense_Mutation	SNP	210864949	210864949	5830	1	A	G	G	11	11	FAM71A	G	4	4
FAM71A	149647	broad.mit.edu	36	1	210866253	210866253	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:210866253G>T	uc001hjk.1	+	c.1411G>T	c.(1411-1413)GAT>TAT	p.D471Y		NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	471										ovary(1)|central_nervous_system(1)	2														0.493827	220.171045	220.17674	80	82	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	Missense_Mutation	SNP	210866253	210866253	5830	1	G	T	T	33	33	FAM71A	T	3	3
ANGEL2	90806	broad.mit.edu	36	1	211253239	211253239	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:211253239G>T	uc001hjz.1	-	c.204C>A	c.(202-204)TAC>TAA	p.Y68*	ANGEL2_uc001hka.1_Intron|ANGEL2_uc001hkb.1_Nonsense_Mutation_p.Y46*	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	LOC90806 protein	68											0														0.179153	103.11201	132.886028	55	252	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	Nonsense_Mutation	SNP	211253239	211253239	612	1	G	T	T	36	36	ANGEL2	T	5	3
EIF4G3	8672	broad.mit.edu	36	1	21141076	21141076	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:21141076T>G	uc001bef.1	-	c.987A>C	c.(985-987)GAA>GAC	p.E329D	EIF4G3_uc009vpz.1_Intron|EIF4G3_uc001bec.1_Missense_Mutation_p.E330D|EIF4G3_uc001bed.1_Missense_Mutation_p.E330D|EIF4G3_uc001bee.1_Missense_Mutation_p.E336D|EIF4G3_uc001beg.2_Missense_Mutation_p.E329D|EIF4G3_uc001beh.2_Missense_Mutation_p.E341D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	330					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity				0		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)												0.462121	831.500783	832.154266	244	284	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	Missense_Mutation	SNP	21141076	21141076	5229	1	T	G	G	64	64	EIF4G3	G	4	4
RPS6KC1	26750	broad.mit.edu	36	1	211481713	211481713	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:211481713G>A	uc001hkc.1	+	c.2271G>A	c.(2269-2271)GGG>GGA	p.G757G	RPS6KC1_uc001hkd.1_Silent_p.G745G|RPS6KC1_uc001hke.1_Silent_p.G576G	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	757					cell communication|protein phosphorylation|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8										410				0.44086	235.32653	235.892427	82	104	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	Silent	SNP	211481713	211481713	14138	1	G	A	A	42	42	RPS6KC1	A	2	2
RPS6KC1	26750	broad.mit.edu	36	1	211481819	211481819	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:211481819C>T	uc001hkc.1	+	c.2377C>T	c.(2377-2379)CCC>TCC	p.P793S	RPS6KC1_uc001hkd.1_Missense_Mutation_p.P781S|RPS6KC1_uc001hke.1_Missense_Mutation_p.P612S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	793					cell communication|protein phosphorylation|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8										410				0.205212	126.055893	150.807265	63	244	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	Missense_Mutation	SNP	211481819	211481819	14138	1	C	T	T	18	18	RPS6KC1	T	2	2
PROX1	5629	broad.mit.edu	36	1	212236938	212236938	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212236938G>T	uc001hkh.1	+	c.437G>T	c.(436-438)AGG>ATG	p.R146M	PROX1_uc001hkg.1_Missense_Mutation_p.R146M	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	146					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 gene-specific transcription|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 gene-specific transcription|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|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|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(3)|lung(1)|central_nervous_system(1)	5														0.440758	253.124246	253.772646	93	118	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	Missense_Mutation	SNP	212236938	212236938	13003	1	G	T	T	35	35	PROX1	T	3	3
PROX1	5629	broad.mit.edu	36	1	212275770	212275770	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212275770G>A	uc001hkh.1	+	c.2184G>A	c.(2182-2184)CCG>CCA	p.P728P		NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	728	Prospero-like.				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 gene-specific transcription|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 gene-specific transcription|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|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|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(3)|lung(1)|central_nervous_system(1)	5														0.358621	138.246595	140.803955	52	93	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	Silent	SNP	212275770	212275770	13003	1	G	A	A	37	37	PROX1	A	1	1
PTPN14	5784	broad.mit.edu	36	1	212624373	212624373	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212624373A>C	uc001hkk.1	-	c.1448T>G	c.(1447-1449)CTG>CGG	p.L483R		NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	483						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(2)|ovary(1)|kidney(1)|skin(1)	5						Colon(92;557 1424 24372 34121 40073)								0.453159	657.355687	658.23048	208	251	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	Missense_Mutation	SNP	212624373	212624373	13238	1	A	C	C	7	7	PTPN14	C	4	4
PTPN14	5784	broad.mit.edu	36	1	212637953	212637953	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212637953G>A	uc001hkk.1	-	c.684C>T	c.(682-684)AAC>AAT	p.N228N		NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	228	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(2)|ovary(1)|kidney(1)|skin(1)	5						Colon(92;557 1424 24372 34121 40073)								0.448276	151.485176	151.755265	52	64	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	Silent	SNP	212637953	212637953	13238	1	G	A	A	36	36	PTPN14	A	2	2
CENPF	1063	broad.mit.edu	36	1	212860663	212860663	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212860663G>A	uc001hkm.1	+	c.616G>A	c.(616-618)GAC>AAC	p.D206N		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	206	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				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)	12						Colon(80;575 1284 11000 14801 43496)								0.415704	495.700977	498.390713	180	253	GG		KEEP	---	---	---	---	capture		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	Missense_Mutation	SNP	212860663	212860663	3364	1	G	A	A	37	37	CENPF	A	1	1
CENPF	1063	broad.mit.edu	36	1	212886070	212886070	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212886070G>T	uc001hkm.1	+	c.6534G>T	c.(6532-6534)GAG>GAT	p.E2178D		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2274	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				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)	12						Colon(80;575 1284 11000 14801 43496)								0.202247	68.685593	83.360925	36	142	GG		KEEP	---	---	---	---	capture		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	Missense_Mutation	SNP	212886070	212886070	3364	1	G	T	T	33	33	CENPF	T	3	3
CENPF	1063	broad.mit.edu	36	1	212886283	212886283	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212886283G>T	uc001hkm.1	+	c.6747G>T	c.(6745-6747)CAG>CAT	p.Q2249H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2345	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				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)	12						Colon(80;575 1284 11000 14801 43496)								0.201117	67.883713	82.763537	36	143	GG		KEEP	---	---	---	---	capture		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	Missense_Mutation	SNP	212886283	212886283	3364	1	G	T	T	33	33	CENPF	T	3	3
CENPF	1063	broad.mit.edu	36	1	212886392	212886392	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212886392G>T	uc001hkm.1	+	c.6856G>T	c.(6856-6858)GAA>TAA	p.E2286*		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2382	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				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)	12						Colon(80;575 1284 11000 14801 43496)								0.236686	77.168405	87.932692	40	129	GG		KEEP	---	---	---	---	capture		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	Nonsense_Mutation	SNP	212886392	212886392	3364	1	G	T	T	33	33	CENPF	T	5	3
CENPF	1063	broad.mit.edu	36	1	212895305	212895305	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212895305G>T	uc001hkm.1	+	c.8421G>T	c.(8419-8421)GAG>GAT	p.E2807D		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2903	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				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)	12						Colon(80;575 1284 11000 14801 43496)								0.231707	39.775071	45.189073	19	63	GG		KEEP	---	---	---	---	capture		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	Missense_Mutation	SNP	212895305	212895305	3364	1	G	T	T	35	35	CENPF	T	3	3
CENPF	1063	broad.mit.edu	36	1	212896910	212896910	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212896910G>A	uc001hkm.1	+	c.8497G>A	c.(8497-8499)GAT>AAT	p.D2833N		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2929	Potential.|Sufficient for nuclear localization.|Sufficient for centromere localization.				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)	12						Colon(80;575 1284 11000 14801 43496)								0.189189	41.50646	51.542078	21	90	GG		KEEP	---	---	---	---	capture		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	Missense_Mutation	SNP	212896910	212896910	3364	1	G	A	A	41	41	CENPF	A	2	2
KCTD3	51133	broad.mit.edu	36	1	213848079	213848079	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:213848079G>T	uc001hks.1	+	c.1407G>T	c.(1405-1407)AAG>AAT	p.K469N	KCTD3_uc001hkt.1_Missense_Mutation_p.K469N|KCTD3_uc009xdn.1_Intron	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	469						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(2)	2														0.195918	81.314391	102.491246	48	197	GG		KEEP	---	---	---	---	capture		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	Missense_Mutation	SNP	213848079	213848079	8416	1	G	T	T	33	33	KCTD3	T	3	3
USH2A	7399	broad.mit.edu	36	1	213887493	213887493	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:213887493T>G	uc001hku.1	-	c.14785A>C	c.(14785-14787)AAA>CAA	p.K4929Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4929	Fibronectin type-III 35.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22														0.455357	154.445952	154.64659	51	61	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Missense_Mutation	SNP	213887493	213887493	17598	1	T	G	G	64	64	USH2A	G	4	4
USH2A	7399	broad.mit.edu	36	1	214019860	214019860	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214019860C>T	uc001hku.1	-	c.10887G>A	c.(10885-10887)GGG>GGA	p.G3629G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3629	Extracellular (Potential).|Fibronectin type-III 21.				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)|kidney(1)|central_nervous_system(1)	22														0.213542	88.979457	103.528372	41	151	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Silent	SNP	214019860	214019860	17598	1	C	T	T	30	30	USH2A	T	2	2
USH2A	7399	broad.mit.edu	36	1	214026643	214026643	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214026643G>A	uc001hku.1	-	c.10379C>T	c.(10378-10380)TCT>TTT	p.S3460F		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3460	Fibronectin type-III 19.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22														0.39645	196.277133	197.866445	67	102	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Missense_Mutation	SNP	214026643	214026643	17598	1	G	A	A	33	33	USH2A	A	2	2
USH2A	7399	broad.mit.edu	36	1	214107074	214107074	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214107074C>A	uc001hku.1	-	c.8743G>T	c.(8743-8745)GAA>TAA	p.E2915*		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2915	Extracellular (Potential).|Fibronectin type-III 15.				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)|kidney(1)|central_nervous_system(1)	22														0.4	146.056268	147.284794	56	84	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Nonsense_Mutation	SNP	214107074	214107074	17598	1	C	A	A	32	32	USH2A	A	5	3
USH2A	7399	broad.mit.edu	36	1	214238985	214238985	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214238985C>T	uc001hku.1	-	c.6524G>A	c.(6523-6525)CGC>CAC	p.R2175H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2175	Extracellular (Potential).|Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22														0.363158	180.820286	183.951487	69	121	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Missense_Mutation	SNP	214238985	214238985	17598	1	C	T	T	27	27	USH2A	T	1	1
USH2A	7399	broad.mit.edu	36	1	214337160	214337160	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214337160C>T	uc001hku.1	-	c.4646G>A	c.(4645-4647)CGA>CAA	p.R1549Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1549	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22														0.144	25.76444	41.022176	18	107	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Missense_Mutation	SNP	214337160	214337160	17598	1	C	T	T	31	31	USH2A	T	1	1
USH2A	7399	broad.mit.edu	36	1	214438286	214438286	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214438286C>A	uc001hku.1	-	c.4075G>T	c.(4075-4077)GAA>TAA	p.E1359*	USH2A_uc001hkv.1_Nonsense_Mutation_p.E1359*	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1359	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22														0.204762	80.390817	97.393454	43	167	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Nonsense_Mutation	SNP	214438286	214438286	17598	1	C	A	A	32	32	USH2A	A	5	3
USH2A	7399	broad.mit.edu	36	1	214563458	214563458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214563458C>T	uc001hku.1	-	c.1531G>A	c.(1531-1533)GAA>AAA	p.E511K	USH2A_uc001hkv.1_Missense_Mutation_p.E511K	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	511	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22														0.222222	119.851836	137.754478	56	196	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Missense_Mutation	SNP	214563458	214563458	17598	1	C	T	T	31	31	USH2A	T	1	1
ESRRG	2104	broad.mit.edu	36	1	214891004	214891004	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214891004G>A	uc001hkx.1	-	c.538C>T	c.(538-540)CGC>TGC	p.R180C	ESRRG_uc001hkw.1_Missense_Mutation_p.R175C|ESRRG_uc009xdo.1_Missense_Mutation_p.R152C|ESRRG_uc009xdp.1_Missense_Mutation_p.R152C|ESRRG_uc001hky.1_Missense_Mutation_p.R152C|ESRRG_uc001hkz.1_Intron|ESRRG_uc001hla.1_Missense_Mutation_p.R152C|ESRRG_uc001hlb.1_Missense_Mutation_p.R152C|ESRRG_uc001hlc.1_Missense_Mutation_p.R152C|ESRRG_uc001hld.1_Missense_Mutation_p.R152C|ESRRG_uc001hle.1_Missense_Mutation_p.R152C	NM_206595	NP_996318	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 2	175	Nuclear receptor.|NR C4-type.				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|zinc ion binding			ovary(1)|kidney(1)	2					Diethylstilbestrol(DB00255)									0.25	110.536704	122.124086	51	153	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Missense_Mutation	SNP	214891004	214891004	5455	1	G	A	A	38	38	ESRRG	A	1	1
SPATA17	128153	broad.mit.edu	36	1	215888923	215888923	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:215888923C>T	uc001hlh.1	+	c.145C>T	c.(145-147)CGG>TGG	p.R49W	SPATA17_uc009xdr.1_Non-coding_Transcript|SPATA17_uc001hli.1_Missense_Mutation_p.R49W	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	49	IQ 1.					cytoplasm	calmodulin binding			pancreas(1)	1														0.192661	82.730428	101.955302	42	176	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	Missense_Mutation	SNP	215888923	215888923	15510	1	C	T	T	31	31	SPATA17	T	1	1
SPATA17	128153	broad.mit.edu	36	1	215981997	215981997	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:215981997C>T	uc001hlh.1	+	c.453C>T	c.(451-453)CTC>CTT	p.L151L	SPATA17_uc009xdr.1_Non-coding_Transcript|SPATA17_uc001hli.1_Silent_p.L151L	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	151						cytoplasm	calmodulin binding			pancreas(1)	1														0.239796	103.045531	115.149449	47	149	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	Silent	SNP	215981997	215981997	15510	1	C	T	T	31	31	SPATA17	T	1	1
RRP15	51018	broad.mit.edu	36	1	216542497	216542497	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:216542497G>T	uc001hlj.1	+	c.378G>T	c.(376-378)AAG>AAT	p.K126N		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog	126	Potential.					mitochondrion|nucleolus	protein binding				0														0.183784	61.93864	79.302969	34	151	GG		KEEP	---	---	---	---	capture		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	Missense_Mutation	SNP	216542497	216542497	14167	1	G	T	T	34	34	RRP15	T	3	3
LYPLAL1	127018	broad.mit.edu	36	1	217433205	217433205	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:217433205G>T	uc001hlq.2	+	c.350G>T	c.(349-351)AGG>ATG	p.R117M	LYPLAL1_uc001hlr.2_Missense_Mutation_p.R101M|LYPLAL1_uc001hls.2_Intron|LYPLAL1_uc001hlt.2_Intron|LYPLAL1_uc009xds.1_Intron	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	117						cytoplasm	lysophospholipase activity				0														0.403509	125.117865	126.048352	46	68	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	Missense_Mutation	SNP	217433205	217433205	9495	1	G	T	T	35	35	LYPLAL1	T	3	3
ALPL	249	broad.mit.edu	36	1	21776557	21776557	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:21776557G>T	uc001bet.1	+	c.1404G>T	c.(1402-1404)GCG>GCT	p.A468A	ALPL_uc001beu.2_Silent_p.A468A	NM_000478	NP_001120973	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	468			A -> T (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)	4		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Amifostine(DB01143)									0.398058	114.015115	114.930392	41	62	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Silent	SNP	21776557	21776557	550	1	G	T	T	38	38	ALPL	T	3	3
RAP1GAP	5909	broad.mit.edu	36	1	21800815	21800815	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:21800815G>A	uc001bev.1	-	c.1856C>T	c.(1855-1857)TCG>TTG	p.S619L	RAP1GAP_uc001bew.1_Missense_Mutation_p.S534L|RAP1GAP_uc001bex.1_Missense_Mutation_p.S534L|RAP1GAP_uc001bey.1_Missense_Mutation_p.S560L	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	534					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)												0.44898	177.717869	178.05177	66	81	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	Missense_Mutation	SNP	21800815	21800815	13497	1	G	A	A	37	37	RAP1GAP	A	1	1
EPRS	2058	broad.mit.edu	36	1	218224221	218224221	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218224221A>G	uc001hly.1	-	c.3040T>C	c.(3040-3042)TTG>CTG	p.L1014L		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1014	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)	1					L-Glutamic Acid(DB00142)|L-Proline(DB00172)									0.38961	200.479166	202.118546	60	94	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0735)	Silent	SNP	218224221	218224221	5384	1	A	G	G	2	2	EPRS	G	4	4
EPRS	2058	broad.mit.edu	36	1	218228584	218228584	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218228584G>A	uc001hly.1	-	c.2746C>T	c.(2746-2748)CGG>TGG	p.R916W	EPRS_uc001hlz.1_Missense_Mutation_p.R923W	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	916	3 X 57 AA approximate repeats.|WHEP-TRS 3.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)	1					L-Glutamic Acid(DB00142)|L-Proline(DB00172)									0.408867	229.183077	230.656392	83	120	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0735)	Missense_Mutation	SNP	218228584	218228584	5384	1	G	A	A	37	37	EPRS	A	1	1
BPNT1	10380	broad.mit.edu	36	1	218298905	218298905	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218298905C>T	uc001hma.1	-	c.831G>A	c.(829-831)AAG>AAA	p.K277K	BPNT1_uc009xdu.1_Silent_p.K211K|BPNT1_uc001hmb.2_Intron	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	277					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1														0.385787	435.182108	439.695461	152	242	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0558)	Silent	SNP	218298905	218298905	1522	1	C	T	T	28	28	BPNT1	T	2	2
IARS2	55699	broad.mit.edu	36	1	218343431	218343431	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218343431T>C	uc001hmc.1	+	c.970T>C	c.(970-972)TCT>CCT	p.S324P		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	324					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)	2					L-Isoleucine(DB00167)									0.399015	270.849174	272.65522	81	122	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0554)	Missense_Mutation	SNP	218343431	218343431	7774	1	T	C	C	62	62	IARS2	C	4	4
RAB3GAP2	25782	broad.mit.edu	36	1	218393215	218393215	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218393215C>A	uc001hme.1	-	c.3802G>T	c.(3802-3804)GAT>TAT	p.D1268Y	RAB3GAP2_uc009xdv.1_Missense_Mutation_p.D1268Y|RAB3GAP2_uc001hmf.1_Non-coding_Transcript|RAB3GAP2_uc001hmg.1_Missense_Mutation_p.D848Y|RAB3GAP2_uc001hmh.1_Missense_Mutation_p.D212Y	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1268					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1														0.446341	493.818986	494.854313	183	227	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0443)	Missense_Mutation	SNP	218393215	218393215	13395	1	C	A	A	32	32	RAB3GAP2	A	3	3
RAB3GAP2	25782	broad.mit.edu	36	1	218433204	218433204	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218433204C>T	uc001hme.1	-	c.1270_splice	c.e13+1	p.G424_splice	RAB3GAP2_uc009xdv.1_Splice_Site_SNP_p.G424_splice|RAB3GAP2_uc001hmf.1_Splice_Site_SNP|RAB3GAP2_uc001hmg.1_Splice_Site_SNP_p.G4_splice	NM_012414	NP_036546			rab3 GTPase-activating protein, non-catalytic						intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1														0.182432	48.530585	62.556739	27	121	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0443)	Splice_Site_SNP	SNP	218433204	218433204	13395	1	C	T	T	18	18	RAB3GAP2	T	5	2
MARK1	4139	broad.mit.edu	36	1	218819335	218819335	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218819335G>A	uc009xdw.1	+	c.68G>A	c.(67-69)GGA>GAA	p.G23E	MARK1_uc001hmn.2_Missense_Mutation_p.G23E|MARK1_uc001hmm.2_Missense_Mutation_p.G23E|MARK1_uc001hml.2_Missense_Mutation_p.G23E	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	23					intracellular protein kinase cascade|protein phosphorylation	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|central_nervous_system(2)|stomach(1)|lung(1)	7										258				0.214953	51.168905	59.193294	23	84	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0407)	Missense_Mutation	SNP	218819335	218819335	9695	1	G	A	A	41	41	MARK1	A	2	2
MARK1	4139	broad.mit.edu	36	1	218844056	218844056	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218844056C>T	uc009xdw.1	+	c.449C>T	c.(448-450)GCC>GTC	p.A150V	MARK1_uc001hmn.2_Missense_Mutation_p.A150V|MARK1_uc001hmm.2_Missense_Mutation_p.A128V|MARK1_uc001hmo.2_Missense_Mutation_p.A15V	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	150	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|central_nervous_system(2)|stomach(1)|lung(1)	7										258				0.32	143.57473	148.593934	56	119	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0407)	Missense_Mutation	SNP	218844056	218844056	9695	1	C	T	T	26	26	MARK1	T	2	2
MARK1	4139	broad.mit.edu	36	1	218858622	218858622	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218858622C>T	uc009xdw.1	+	c.811C>T	c.(811-813)CGA>TGA	p.R271*	MARK1_uc001hmn.2_Nonsense_Mutation_p.R271*|MARK1_uc001hmm.2_Nonsense_Mutation_p.R249*|MARK1_uc001hmo.2_Nonsense_Mutation_p.R136*	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	271	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|central_nervous_system(2)|stomach(1)|lung(1)	7										258				0.21097	99.917059	118.235996	50	187	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0407)	Nonsense_Mutation	SNP	218858622	218858622	9695	1	C	T	T	19	19	MARK1	T	5	1
HSPG2	3339	broad.mit.edu	36	1	22028657	22028657	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22028657G>A	uc009vqd.1	-	c.11801C>T	c.(11800-11802)TCG>TTG	p.S3934L	HSPG2_uc001bfi.1_5'UTR|HSPG2_uc001bfj.1_Missense_Mutation_p.S3933L	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3933	Laminin G-like 2.				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)	8		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)			Becaplermin(DB00102)|Palifermin(DB00039)									0.119403	7.360115	16.88319	8	59	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	22028657	22028657	7730	1	G	A	A	37	37	HSPG2	A	1	1
HSPG2	3339	broad.mit.edu	36	1	22033954	22033954	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22033954C>T	uc009vqd.1	-	c.10528G>A	c.(10528-10530)GAA>AAA	p.E3510K	HSPG2_uc001bfj.1_Missense_Mutation_p.E3509K	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3509	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)	8		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)			Becaplermin(DB00102)|Palifermin(DB00039)									0.451389	178.352878	178.649338	65	79	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	22033954	22033954	7730	1	C	T	T	31	31	HSPG2	T	1	1
HSPG2	3339	broad.mit.edu	36	1	22046522	22046522	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22046522G>A	uc009vqd.1	-	c.8079C>T	c.(8077-8079)GGC>GGT	p.G2693G	HSPG2_uc001bfj.1_Silent_p.G2692G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2692	Ig-like C2-type 12.				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)	8		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)			Becaplermin(DB00102)|Palifermin(DB00039)									0.21466	76.284957	90.647891	41	150	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	22046522	22046522	7730	1	G	A	A	38	38	HSPG2	A	1	1
HSPG2	3339	broad.mit.edu	36	1	22047998	22047998	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22047998G>A	uc009vqd.1	-	c.7563C>T	c.(7561-7563)ATC>ATT	p.I2521I	HSPG2_uc001bfj.1_Silent_p.I2520I	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2520	Ig-like C2-type 10.				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)	8		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)			Becaplermin(DB00102)|Palifermin(DB00039)									0.408824	384.833048	387.333131	139	201	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	22047998	22047998	7730	1	G	A	A	41	41	HSPG2	A	2	2
HSPG2	3339	broad.mit.edu	36	1	22056462	22056462	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22056462G>T	uc009vqd.1	-	c.5300C>A	c.(5299-5301)GCT>GAT	p.A1767D	HSPG2_uc001bfj.1_Missense_Mutation_p.A1766D	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1766	Ig-like C2-type 2.				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)	8		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)			Becaplermin(DB00102)|Palifermin(DB00039)									0.57931	251.224063	252.025752	84	61	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	22056462	22056462	7730	1	G	T	T	34	34	HSPG2	T	3	3
HSPG2	3339	broad.mit.edu	36	1	22064882	22064882	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22064882G>A	uc009vqd.1	-	c.4232C>T	c.(4231-4233)GCC>GTC	p.A1411V	HSPG2_uc001bfj.1_Missense_Mutation_p.A1410V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1410	Laminin IV type A 3.			A -> G (in Ref. 7; AAA52699).	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)	8		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)			Becaplermin(DB00102)|Palifermin(DB00039)									0.440972	334.870328	335.745017	127	161	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	22064882	22064882	7730	1	G	A	A	42	42	HSPG2	A	2	2
HSPG2	3339	broad.mit.edu	36	1	22074963	22074963	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22074963A>C	uc009vqd.1	-	c.3166T>G	c.(3166-3168)TTC>GTC	p.F1056V	HSPG2_uc001bfj.1_Missense_Mutation_p.F1055V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1055	Laminin IV type A 2.				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)	8		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)			Becaplermin(DB00102)|Palifermin(DB00039)									0.494737	292.741303	292.745922	94	96	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	22074963	22074963	7730	1	A	C	C	3	3	HSPG2	C	4	4
HHIPL2	79802	broad.mit.edu	36	1	220766980	220766980	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:220766980C>T	uc001hnh.1	-	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	587					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1														0.28	32.323906	34.503172	14	36	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0185)	Missense_Mutation	SNP	220766980	220766980	7378	1	C	T	T	25	25	HHIPL2	T	2	2
MIA3	375056	broad.mit.edu	36	1	220868294	220868294	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:220868294C>T	uc001hnl.1	+	c.1109C>T	c.(1108-1110)CCT>CTT	p.P370L	MIA3_uc009xea.1_Missense_Mutation_p.P206L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	370	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														0.428571	213.846111	214.563258	69	92	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0199)	Missense_Mutation	SNP	220868294	220868294	9955	1	C	T	T	24	24	MIA3	T	2	2
MIA3	375056	broad.mit.edu	36	1	220902079	220902079	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:220902079C>A	uc001hnl.1	+	c.5172C>A	c.(5170-5172)CCC>CCA	p.P1724P	MIA3_uc001hnm.1_Silent_p.P602P	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1724	Pro-rich.|Cytoplasmic (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														0.226667	69.145564	79.464473	34	116	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0199)	Silent	SNP	220902079	220902079	9955	1	C	A	A	24	24	MIA3	A	3	3
AIDA	64853	broad.mit.edu	36	1	220909864	220909864	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:220909864C>A	uc001hnn.1	-	c.915G>T	c.(913-915)AAG>AAT	p.K305N	AIDA_uc001hno.1_Non-coding_Transcript	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	305					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity						0														0.208	53.078208	62.954461	26	99	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	220909864	220909864	426	1	C	A	A	24	24	AIDA	A	3	3
AIDA	64853	broad.mit.edu	36	1	220910102	220910102	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:220910102C>A	uc001hnn.1	-	c.820G>T	c.(820-822)GAA>TAA	p.E274*	AIDA_uc001hno.1_Non-coding_Transcript	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	274					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity						0														0.145946	37.287968	59.603288	27	158	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	220910102	220910102	426	1	C	A	A	32	32	AIDA	A	5	3
C1orf58	148362	broad.mit.edu	36	1	220967209	220967209	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:220967209C>A	uc001hnq.1	+	c.657C>A	c.(655-657)TTC>TTA	p.F219L		NM_144695	NP_653296	Q5VW32	BROX_HUMAN	hypothetical protein LOC148362	219	BRO1.					membrane					0														0.391534	194.587633	196.540992	74	115	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0667)	Missense_Mutation	SNP	220967209	220967209	2124	1	C	A	A	32	32	C1orf58	A	3	3
DISP1	84976	broad.mit.edu	36	1	221232062	221232062	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221232062C>A	uc001hnu.1	+	c.876C>A	c.(874-876)TTC>TTA	p.F292L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	292					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0														0.202381	32.720704	39.639507	17	67	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.102)	Missense_Mutation	SNP	221232062	221232062	4718	1	C	A	A	32	32	DISP1	A	3	3
DISP1	84976	broad.mit.edu	36	1	221234893	221234893	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221234893G>A	uc001hnu.1	+	c.933G>A	c.(931-933)GAG>GAA	p.E311E		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	311					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0														0.179949	141.09466	178.590986	70	319	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.102)	Silent	SNP	221234893	221234893	4718	1	G	A	A	33	33	DISP1	A	2	2
DISP1	84976	broad.mit.edu	36	1	221244135	221244135	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221244135T>G	uc001hnu.1	+	c.2773T>G	c.(2773-2775)TTA>GTA	p.L925V		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	925					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0														0.181102	48.845139	60.992797	23	104	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.102)	Missense_Mutation	SNP	221244135	221244135	4718	1	T	G	G	60	60	DISP1	G	4	4
DISP1	84976	broad.mit.edu	36	1	221245491	221245491	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221245491C>A	uc001hnu.1	+	c.4129C>A	c.(4129-4131)CTT>ATT	p.L1377I		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1377					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0														0.429293	226.21846	227.086268	85	113	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.102)	Missense_Mutation	SNP	221245491	221245491	4718	1	C	A	A	32	32	DISP1	A	3	3
TLR5	7100	broad.mit.edu	36	1	221350956	221350956	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221350956C>T	uc001hnv.1	-	c.2041G>A	c.(2041-2043)GAC>AAC	p.D681N	TLR5_uc001hnw.1_Missense_Mutation_p.D681N|TLR5_uc009xec.1_Missense_Mutation_p.D681N	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5	681	Cytoplasmic (Potential).		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)	2														0.25641	94.330157	102.722252	40	116	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0851)	Missense_Mutation	SNP	221350956	221350956	16484	1	C	T	T	30	30	TLR5	T	2	2
TLR5	7100	broad.mit.edu	36	1	221351622	221351622	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221351622G>A	uc001hnv.1	-	c.1375C>T	c.(1375-1377)CGC>TGC	p.R459C	TLR5_uc001hnw.1_Missense_Mutation_p.R459C|TLR5_uc009xec.1_Missense_Mutation_p.R459C	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5	459	Extracellular (Potential).|LRR 11.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)	2														0.4	271.292684	273.437199	98	147	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0851)	Missense_Mutation	SNP	221351622	221351622	16484	1	G	A	A	37	37	TLR5	A	1	1
TLR5	7100	broad.mit.edu	36	1	221352446	221352446	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221352446A>C	uc001hnv.1	-	c.551T>G	c.(550-552)CTT>CGT	p.L184R	TLR5_uc001hnw.1_Missense_Mutation_p.L184R|TLR5_uc009xec.1_Missense_Mutation_p.L184R	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5	184	LRR 4.|Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)	2														0.449664	202.205317	202.534279	67	82	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0851)	Missense_Mutation	SNP	221352446	221352446	16484	1	A	C	C	3	3	TLR5	C	4	4
CAPN2	824	broad.mit.edu	36	1	222016514	222016514	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:222016514G>A	uc001hob.2	+	c.1570G>A	c.(1570-1572)GAC>AAC	p.D524N	CAPN2_uc001hoc.1_Missense_Mutation_p.D105N	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2, large subunit	524	Linker.				proteolysis	cytoplasm|plasma membrane					0														0.146067	19.115585	29.836146	13	76	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.109)	Missense_Mutation	SNP	222016514	222016514	2745	1	G	A	A	37	37	CAPN2	A	1	1
TP53BP2	7159	broad.mit.edu	36	1	222054323	222054323	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:222054323C>T	uc001hod.1	-	c.999G>A	c.(997-999)CCG>CCA	p.P333P	TP53BP2_uc001hoe.1_Silent_p.P333P	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 2	456					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3														0.232143	85.440727	96.480374	39	129	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0958)	Silent	SNP	222054323	222054323	16926	1	C	T	T	19	19	TP53BP2	T	1	1
TP53BP2	7159	broad.mit.edu	36	1	222057718	222057718	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:222057718C>T	uc001hod.1	-	c.322G>A	c.(322-324)GCT>ACT	p.A108T	TP53BP2_uc001hoe.1_Missense_Mutation_p.A108T	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 2	231					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3														0.46888	327.738542	327.942548	113	128	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0958)	Missense_Mutation	SNP	222057718	222057718	16926	1	C	T	T	26	26	TP53BP2	T	2	2
CELA3A	10136	broad.mit.edu	36	1	22208923	22208923	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22208923G>A	uc001bfl.1	+	c.781G>A	c.(781-783)GAC>AAC	p.D261N		NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	261	Peptidase S1.				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity				0														0.175258	60.528069	79.829618	34	160	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22208923	22208923	3346	1	G	A	A	37	37	CELA3A	A	1	1
NVL	4931	broad.mit.edu	36	1	222584408	222584408	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:222584408C>T	uc001hok.1	-	c.45G>A	c.(43-45)CAG>CAA	p.Q15Q	NVL_uc001hol.1_5'UTR	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	15						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity				0														0.254144	114.465151	124.394352	46	135	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.00501)	Silent	SNP	222584408	222584408	11185	1	C	T	T	28	28	NVL	T	2	2
WNT4	54361	broad.mit.edu	36	1	22319195	22319195	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22319195G>T	uc001bfs.2	-	c.991C>A	c.(991-993)CAC>AAC	p.H331N		NM_030761	NP_110388	P56705	WNT4_HUMAN	wingless-type MMTV integration site family,	331					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of gene-specific transcription|positive regulation of osteoblast differentiation|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription activator activity|transcription corepressor activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)												0.218391	38.062781	44.440219	19	68	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	Missense_Mutation	SNP	22319195	22319195	17964	1	G	T	T	47	47	WNT4	T	3	3
WNT4	54361	broad.mit.edu	36	1	22320653	22320653	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22320653G>T	uc001bfs.2	-	c.317C>A	c.(316-318)ACT>AAT	p.T106N		NM_030761	NP_110388	P56705	WNT4_HUMAN	wingless-type MMTV integration site family,	106				T -> I (in Ref. 1; AAG38658).	adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of gene-specific transcription|positive regulation of osteoblast differentiation|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription activator activity|transcription corepressor activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)												0.222222	36.459815	41.572659	16	56	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	Missense_Mutation	SNP	22320653	22320653	17964	1	G	T	T	36	36	WNT4	T	3	3
WNT4	54361	broad.mit.edu	36	1	22328913	22328913	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22328913C>T	uc001bfs.2	-	c.96G>A	c.(94-96)TCG>TCA	p.S32S		NM_030761	NP_110388	P56705	WNT4_HUMAN	wingless-type MMTV integration site family,	32					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of gene-specific transcription|positive regulation of osteoblast differentiation|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription activator activity|transcription corepressor activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)												0.16955	81.092604	110.980678	49	240	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	Silent	SNP	22328913	22328913	17964	1	C	T	T	19	19	WNT4	T	1	1
LBR	3930	broad.mit.edu	36	1	223676532	223676532	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:223676532C>T	uc001hoy.1	-	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	LBR_uc001hoz.1_Missense_Mutation_p.R79Q|LBR_uc001hpa.1_Missense_Mutation_p.R79Q	NM_002296	NP_919424	Q14739	LBR_HUMAN	lamin B receptor	79	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)	1	Breast(184;0.165)													0.373494	165.109265	167.441248	62	104	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.117)	Missense_Mutation	SNP	223676532	223676532	8975	1	C	T	T	31	31	LBR	T	1	1
ENAH	55740	broad.mit.edu	36	1	223784899	223784899	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:223784899T>G	uc001hpc.1	-	c.414A>C	c.(412-414)GAA>GAC	p.E138D	ENAH_uc001hpd.1_Missense_Mutation_p.E138D	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	138	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)	1	Breast(184;0.206)													0.419643	421.614197	423.508264	141	195	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.19)	Missense_Mutation	SNP	223784899	223784899	5304	1	T	G	G	56	56	ENAH	G	4	4
TMEM63A	9725	broad.mit.edu	36	1	224104365	224104365	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224104365G>C	uc001hpm.1	-	c.1942C>G	c.(1942-1944)CAC>GAC	p.H648D		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	648						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)													0.243243	138.797454	152.187195	54	168	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	224104365	224104365	16729	1	G	C	C	46	46	TMEM63A	C	3	3
TMEM63A	9725	broad.mit.edu	36	1	224108030	224108030	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224108030G>A	uc001hpm.1	-	c.1720C>T	c.(1720-1722)CGG>TGG	p.R574W		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	574						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)													0.392857	27.618659	27.899859	11	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	224108030	224108030	16729	1	G	A	A	38	38	TMEM63A	A	1	1
LEFTY1	10637	broad.mit.edu	36	1	224141226	224141226	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224141226G>A	uc001hpo.1	-	c.925C>T	c.(925-927)CCG>TCG	p.P309S		NM_020997	NP_066277	O75610	LFTY1_HUMAN	left-right determination, factor B	309					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)													0.393617	93.745764	94.678615	37	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	224141226	224141226	9039	1	G	A	A	42	42	LEFTY1	A	2	2
LEFTY1	10637	broad.mit.edu	36	1	224141783	224141783	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224141783C>T	uc001hpo.1	-	c.676G>A	c.(676-678)GCG>ACG	p.A226T		NM_020997	NP_066277	O75610	LFTY1_HUMAN	left-right determination, factor B	226					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)													0.486726	151.383044	151.401158	55	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	224141783	224141783	9039	1	C	T	T	26	26	LEFTY1	T	2	2
LEFTY1	10637	broad.mit.edu	36	1	224143360	224143360	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224143360G>T	uc001hpo.1	-	c.30C>A	c.(28-30)CTC>CTA	p.L10L	LEFTY1_uc009xej.1_Silent_p.L10L	NM_020997	NP_066277	O75610	LFTY1_HUMAN	left-right determination, factor B	10					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)													0.388889	17.318131	17.513641	7	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	224143360	224143360	9039	1	G	T	T	33	33	LEFTY1	T	3	3
LEFTY2	7044	broad.mit.edu	36	1	224191897	224191897	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224191897G>A	uc001hpt.1	-	c.968C>T	c.(967-969)TCG>TTG	p.S323L	LEFTY2_uc009xek.1_Non-coding_Transcript	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	323					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					Colon(172;116 2643 9098 43333)								0.216418	57.514595	67.450886	29	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	224191897	224191897	9040	1	G	A	A	37	37	LEFTY2	A	1	1
LIN9	286826	broad.mit.edu	36	1	224505208	224505208	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224505208T>G	uc001hqa.1	-	c.1122A>C	c.(1120-1122)GAA>GAC	p.E374D	LIN9_uc001hqb.1_Missense_Mutation_p.E339D|LIN9_uc001hqc.1_Missense_Mutation_p.E306D|LIN9_uc009xel.1_Missense_Mutation_p.E339D	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	358	Potential.				cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)					Ovarian(197;1696 2974 11248 14117)								0.151515	30.961686	42.472803	15	84	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.131)	Missense_Mutation	SNP	224505208	224505208	9140	1	T	G	G	60	60	LIN9	G	4	4
PSEN2	5664	broad.mit.edu	36	1	225136315	225136315	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:225136315G>A	uc009xeo.1	+	c.84G>A	c.(82-84)CCG>CCA	p.P28P	PSEN2_uc009xep.1_Silent_p.P28P|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	28	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	endopeptidase activity|protein binding				0		Prostate(94;0.0771)								356				0.19084	42.925585	54.614405	25	106	GG		KEEP	---	---	---	---	capture			Silent	SNP	225136315	225136315	13104	1	G	A	A	38	38	PSEN2	A	1	1
PSEN2	5664	broad.mit.edu	36	1	225143297	225143297	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:225143297G>A	uc009xeo.1	+	c.711G>A	c.(709-711)GCG>GCA	p.A237A	PSEN2_uc009xep.1_Silent_p.A237A|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	237	Helical; (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	endopeptidase activity|protein binding				0		Prostate(94;0.0771)								356				0.481818	146.362354	146.394103	53	57	GG		KEEP	---	---	---	---	capture			Silent	SNP	225143297	225143297	13104	1	G	A	A	38	38	PSEN2	A	1	1
PSEN2	5664	broad.mit.edu	36	1	225143370	225143370	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:225143370T>C	uc009xeo.1	+	c.784T>C	c.(784-786)TAT>CAT	p.Y262H	PSEN2_uc009xep.1_Missense_Mutation_p.Y262H|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	262	Helical; (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	endopeptidase activity|protein binding				0		Prostate(94;0.0771)								356				0.4	67.312884	67.742725	20	30	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	225143370	225143370	13104	1	T	C	C	57	57	PSEN2	C	4	4
CDC42BPA	8476	broad.mit.edu	36	1	225294495	225294495	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:225294495G>T	uc001hqr.1	-	c.3054C>A	c.(3052-3054)TCC>TCA	p.S1018S	CDC42BPA_uc001hqs.1_Silent_p.S937S|CDC42BPA_uc009xes.1_Silent_p.S990S|CDC42BPA_uc001hqp.1_Silent_p.S174S|CDC42BPA_uc001hqq.1_Silent_p.S317S|CDC42BPA_uc001hqu.1_Silent_p.S225S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1031	Phorbol-ester/DAG-type.				actin cytoskeleton reorganization|intracellular signal transduction|protein phosphorylation	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|ovary(1)|pancreas(1)	10		all_cancers(173;0.156)|Prostate(94;0.0792)								1574				0.264516	96.194405	103.972017	41	114	GG		KEEP	---	---	---	---	capture			Silent	SNP	225294495	225294495	3200	1	G	T	T	35	35	CDC42BPA	T	3	3
ZNF678	339500	broad.mit.edu	36	1	225908712	225908712	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:225908712T>G	uc001hqw.1	+	c.138T>G	c.(136-138)GAT>GAG	p.D46E	ZNF678_uc009xet.1_Non-coding_Transcript|ZNF678_uc009xeu.1_Non-coding_Transcript	NM_178549	NP_848644			zinc finger protein 678											pancreas(1)	1		Prostate(94;0.0885)												0.447531	502.556613	503.327312	145	179	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	225908712	225908712	18680	1	T	G	G	52	52	ZNF678	G	4	4
ZNF678	339500	broad.mit.edu	36	1	225909139	225909139	+	Missense_Mutation	SNP	G	A	A	rs61744724	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:225909139G>A	uc001hqw.1	+	c.565G>A	c.(565-567)GTT>ATT	p.V189I	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644			zinc finger protein 678											pancreas(1)	1		Prostate(94;0.0885)												0.439103	412.018629	413.029106	137	175	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	225909139	225909139	18680	1	G	A	A	36	36	ZNF678	A	2	2
ZNF678	339500	broad.mit.edu	36	1	225909669	225909669	+	Silent	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:225909669T>A	uc001hqw.1	+	c.1095T>A	c.(1093-1095)ACT>ACA	p.T365T	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644			zinc finger protein 678											pancreas(1)	1		Prostate(94;0.0885)												0.46	129.033967	129.173727	46	54	TT		KEEP	---	---	---	---	capture			Silent	SNP	225909669	225909669	18680	1	T	A	A	54	54	ZNF678	A	4	4
SNAP47	116841	broad.mit.edu	36	1	226002486	226002486	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226002486C>T	uc001hrf.1	+	c.561C>T	c.(559-561)CAC>CAT	p.H187H	SNAP47_uc001hqz.1_Silent_p.H142H|SNAP47_uc001hra.1_Intron|SNAP47_uc001hrd.2_Silent_p.H187H|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Silent_p.H142H	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	187	t-SNARE coiled-coil homology 1.					endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1														0.254545	30.531831	33.5353	14	41	CC		KEEP	---	---	---	---	capture			Silent	SNP	226002486	226002486	15332	1	C	T	T	18	18	SNAP47	T	2	2
SNAP47	116841	broad.mit.edu	36	1	226013662	226013662	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226013662C>T	uc001hrf.1	+	c.976C>T	c.(976-978)CGT>TGT	p.R326C	SNAP47_uc001hqz.1_Missense_Mutation_p.R281C|SNAP47_uc001hra.1_Missense_Mutation_p.R84C|SNAP47_uc001hrd.2_Missense_Mutation_p.R326C|SNAP47_uc001hre.2_Missense_Mutation_p.R84C|SNAP47_uc001hrg.1_Missense_Mutation_p.R281C	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	326						endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1														0.186147	81.288212	102.616248	43	188	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226013662	226013662	15332	1	C	T	T	31	31	SNAP47	T	1	1
SNAP47	116841	broad.mit.edu	36	1	226013765	226013765	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226013765G>T	uc001hrf.1	+	c.1079G>T	c.(1078-1080)AGA>ATA	p.R360I	SNAP47_uc001hqz.1_Missense_Mutation_p.R315I|SNAP47_uc001hra.1_Missense_Mutation_p.R118I|SNAP47_uc001hrd.2_Missense_Mutation_p.R360I|SNAP47_uc001hre.2_Missense_Mutation_p.R118I|SNAP47_uc001hrg.1_Missense_Mutation_p.R315I	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	360						endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1														0.361905	288.035336	293.33304	114	201	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226013765	226013765	15332	1	G	T	T	33	33	SNAP47	T	3	3
PRSS38	339501	broad.mit.edu	36	1	226070544	226070544	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226070544C>T	uc001hrh.1	+	c.279C>T	c.(277-279)TAC>TAT	p.Y93Y		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2	93	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2														0.346939	198.144861	202.19658	68	128	CC		KEEP	---	---	---	---	capture			Silent	SNP	226070544	226070544	13077	1	C	T	T	20	20	PRSS38	T	2	2
WNT9A	7483	broad.mit.edu	36	1	226178693	226178693	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226178693G>A	uc001hri.1	-	c.384C>T	c.(382-384)ATC>ATT	p.I128I		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	128					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)												0.461538	134.574567	134.709871	48	56	GG		KEEP	---	---	---	---	capture			Silent	SNP	226178693	226178693	17972	1	G	A	A	33	33	WNT9A	A	2	2
WNT9A	7483	broad.mit.edu	36	1	226179734	226179734	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226179734G>A	uc001hri.1	-	c.205C>T	c.(205-207)CGG>TGG	p.R69W		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	69					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)												0.578947	27.813963	27.915676	11	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226179734	226179734	17972	1	G	A	A	38	38	WNT9A	A	1	1
GJC2	57165	broad.mit.edu	36	1	226412307	226412307	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226412307G>A	uc001hsk.1	+	c.225G>A	c.(223-225)TCG>TCA	p.S75S	GJC2_uc009xey.1_Silent_p.S75S	NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	75	Extracellular (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)												0.5	81.227985	81.227985	30	30	GG		KEEP	---	---	---	---	capture			Silent	SNP	226412307	226412307	6683	1	G	A	A	38	38	GJC2	A	1	1
OBSCN	84033	broad.mit.edu	36	1	226468631	226468631	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226468631C>T	uc009xez.1	+	c.1392C>T	c.(1390-1392)GGC>GGT	p.G464G	OBSCN_uc001hsn.1_Silent_p.G464G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	464	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.493333	96.650153	96.653016	37	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	226468631	226468631	11217	1	C	T	T	26	26	OBSCN	T	2	2
OBSCN	84033	broad.mit.edu	36	1	226511140	226511140	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226511140C>T	uc009xez.1	+	c.4475C>T	c.(4474-4476)GCT>GTT	p.A1492V	OBSCN_uc001hsn.1_Missense_Mutation_p.A1492V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1492	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.438202	107.100502	107.398484	39	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226511140	226511140	11217	1	C	T	T	28	28	OBSCN	T	2	2
OBSCN	84033	broad.mit.edu	36	1	226522936	226522936	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226522936C>T	uc009xez.1	+	c.4944C>T	c.(4942-4944)TGC>TGT	p.C1648C	OBSCN_uc001hsn.1_Silent_p.C1648C|OBSCN_uc001hso.2_Silent_p.C94C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1648	Ig-like 17.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)							p.C1648C(PF382-Tumor)	4006				0.511364	121.865282	121.875105	45	43	CC		KEEP	---	---	---	---	capture			Silent	SNP	226522936	226522936	11217	1	C	T	T	27	27	OBSCN	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226528314	226528314	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226528314C>T	uc009xez.1	+	c.5358C>T	c.(5356-5358)AGC>AGT	p.S1786S	OBSCN_uc001hsn.1_Silent_p.S1786S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1786	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.444444	31.892039	31.965141	12	15	CC		KEEP	---	---	---	---	capture			Silent	SNP	226528314	226528314	11217	1	C	T	T	27	27	OBSCN	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226529024	226529024	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226529024C>T	uc009xez.1	+	c.5812C>T	c.(5812-5814)CTT>TTT	p.L1938F	OBSCN_uc001hsn.1_Missense_Mutation_p.L1938F|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1938	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.464286	35.462872	35.494623	13	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226529024	226529024	11217	1	C	T	T	28	28	OBSCN	T	2	2
OBSCN	84033	broad.mit.edu	36	1	226541186	226541186	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226541186G>A	uc009xez.1	+	c.9367G>A	c.(9367-9369)GAC>AAC	p.D3123N	OBSCN_uc001hsn.1_Missense_Mutation_p.D3123N|OBSCN_uc001hsq.1_Missense_Mutation_p.D379N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3123	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.15942	17.484584	25.107837	11	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226541186	226541186	11217	1	G	A	A	37	37	OBSCN	A	1	1
OBSCN	84033	broad.mit.edu	36	1	226542601	226542601	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226542601C>T	uc009xez.1	+	c.10028C>T	c.(10027-10029)TCG>TTG	p.S3343L	OBSCN_uc001hsn.1_Missense_Mutation_p.S3343L|OBSCN_uc001hsq.1_Missense_Mutation_p.S599L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3343	Ig-like 33.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.379032	124.49309	126.08528	47	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226542601	226542601	11217	1	C	T	T	31	31	OBSCN	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226543192	226543192	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226543192C>A	uc009xez.1	+	c.10319C>A	c.(10318-10320)TCT>TAT	p.S3440Y	OBSCN_uc001hsn.1_Missense_Mutation_p.S3440Y|OBSCN_uc001hsq.1_Missense_Mutation_p.S696Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3440	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.514286	148.53567	148.553801	54	51	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226543192	226543192	11217	1	C	A	A	32	32	OBSCN	A	3	3
OBSCN	84033	broad.mit.edu	36	1	226549362	226549362	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226549362T>C	uc009xez.1	+	c.11654T>C	c.(11653-11655)GTC>GCC	p.V3885A	OBSCN_uc001hsn.1_Missense_Mutation_p.V3885A|OBSCN_uc001hsq.1_Missense_Mutation_p.V1141A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3885					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.205882	89.138873	102.766883	35	135	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226549362	226549362	11217	1	T	C	C	58	58	OBSCN	C	4	4
OBSCN	84033	broad.mit.edu	36	1	226561591	226561591	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226561591C>A	uc009xez.1	+	c.12202C>A	c.(12202-12204)CCC>ACC	p.P4068T	OBSCN_uc001hsn.1_Missense_Mutation_p.P4068T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4068	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.185897	51.972876	66.413976	29	127	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226561591	226561591	11217	1	C	A	A	26	26	OBSCN	A	3	3
OBSCN	84033	broad.mit.edu	36	1	226561683	226561683	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226561683C>T	uc009xez.1	+	c.12294C>T	c.(12292-12294)GCC>GCT	p.A4098A	OBSCN_uc001hsn.1_Silent_p.A4098A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4098	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.391892	78.2793	79.029008	29	45	CC		KEEP	---	---	---	---	capture			Silent	SNP	226561683	226561683	11217	1	C	T	T	23	23	OBSCN	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226562617	226562617	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226562617C>T	uc009xez.1	+	c.12649C>T	c.(12649-12651)CTG>TTG	p.L4217L	OBSCN_uc001hsn.1_Silent_p.L4217L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4217	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.134615	10.08689	16.820643	7	45	CC		KEEP	---	---	---	---	capture			Silent	SNP	226562617	226562617	11217	1	C	T	T	24	24	OBSCN	T	2	2
OBSCN	84033	broad.mit.edu	36	1	226594388	226594388	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226594388C>T	uc009xez.1	+	c.17378C>T	c.(17377-17379)TCG>TTG	p.S5793L	OBSCN_uc001hsn.1_Missense_Mutation_p.S5793L|OBSCN_uc001hsr.1_Missense_Mutation_p.S422L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5793	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.28	46.234735	49.507076	21	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226594388	226594388	11217	1	C	T	T	31	31	OBSCN	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226616914	226616914	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226616914C>T	uc009xez.1	+	c.18676C>T	c.(18676-18678)CGA>TGA	p.R6226*	OBSCN_uc001hsr.1_Nonsense_Mutation_p.R855*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6226					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.441176	82.136321	82.341851	30	38	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	226616914	226616914	11217	1	C	T	T	27	27	OBSCN	T	5	1
OBSCN	84033	broad.mit.edu	36	1	226616977	226616977	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226616977T>C	uc009xez.1	+	c.18739T>C	c.(18739-18741)TCC>CCC	p.S6247P	OBSCN_uc001hsr.1_Missense_Mutation_p.S876P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6247					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.5	84.303257	84.303257	24	24	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226616977	226616977	11217	1	T	C	C	54	54	OBSCN	C	4	4
OBSCN	84033	broad.mit.edu	36	1	226626374	226626374	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226626374G>T	uc009xez.1	+	c.21272G>T	c.(21271-21273)AGC>ATC	p.S7091I	OBSCN_uc001hsr.1_Missense_Mutation_p.S1720I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7091	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.480769	66.748225	66.765888	25	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226626374	226626374	11217	1	G	T	T	34	34	OBSCN	T	3	3
OBSCN	84033	broad.mit.edu	36	1	226627286	226627286	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226627286G>A	uc009xez.1	+	c.22184G>A	c.(22183-22185)AGC>AAC	p.S7395N	OBSCN_uc001hsr.1_Missense_Mutation_p.S2024N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7395					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.487179	56.019822	56.025502	19	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226627286	226627286	11217	1	G	A	A	34	34	OBSCN	A	2	2
OBSCN	84033	broad.mit.edu	36	1	226631439	226631439	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226631439G>A	uc009xez.1	+	c.23103G>A	c.(23101-23103)AAG>AAA	p.K7701K	OBSCN_uc001hsr.1_Silent_p.K2330K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7701	Protein kinase 2.	ATP (By similarity).			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.470588	23.197728	23.210599	8	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	226631439	226631439	11217	1	G	A	A	33	33	OBSCN	A	2	2
TRIM11	81559	broad.mit.edu	36	1	226660781	226660781	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226660781G>T	uc001hss.1	-	c.105C>A	c.(103-105)TTC>TTA	p.F35L	TRIM11_uc001hst.1_Missense_Mutation_p.F35L	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	35	RING-type.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding				0		Prostate(94;0.0724)												0.277778	21.629318	23.232836	10	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226660781	226660781	17031	1	G	T	T	33	33	TRIM11	T	3	3
TRIM17	51127	broad.mit.edu	36	1	226663058	226663058	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226663058C>T	uc001hsu.1	-	c.901G>A	c.(901-903)GCC>ACC	p.A301T	TRIM11_uc001hss.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.1_Missense_Mutation_p.A301T|TRIM17_uc001hsw.1_Missense_Mutation_p.A274T|TRIM17_uc009xfb.1_3'UTR	NM_016102	NP_001020112	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	301	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)												0.424	133.828335	134.462784	53	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226663058	226663058	17037	1	C	T	T	25	25	TRIM17	T	2	2
HIST3H3	8290	broad.mit.edu	36	1	226679626	226679626	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226679626C>T	uc001hsx.1	-	c.24G>A	c.(22-24)GCG>GCA	p.A8A		NM_003493	NP_003484	Q16695	H31T_HUMAN	histone cluster 3, H3	8					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		Prostate(94;0.0724)												0.194245	47.349313	59.478586	27	112	CC		KEEP	---	---	---	---	capture			Silent	SNP	226679626	226679626	7475	1	C	T	T	27	27	HIST3H3	T	1	1
ZBTB40	9923	broad.mit.edu	36	1	22710344	22710344	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22710344C>T	uc001bft.2	+	c.1919C>T	c.(1918-1920)GCC>GTC	p.A640V	ZBTB40_uc001bfu.2_Missense_Mutation_p.A640V|ZBTB40_uc009vqi.1_Missense_Mutation_p.A528V|ZBTB40_uc001bfv.1_Missense_Mutation_p.A269V	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)												0.443137	326.697902	327.404647	113	142	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	Missense_Mutation	SNP	22710344	22710344	18128	1	C	T	T	26	26	ZBTB40	T	2	2
ZBTB40	9923	broad.mit.edu	36	1	22723520	22723520	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22723520C>T	uc001bft.2	+	c.3521C>T	c.(3520-3522)GCG>GTG	p.A1174V	ZBTB40_uc001bfu.2_Missense_Mutation_p.A1174V|ZBTB40_uc009vqi.1_Missense_Mutation_p.A1062V	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)												0.144444	17.122903	28.072053	13	77	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	Missense_Mutation	SNP	22723520	22723520	18128	1	C	T	T	27	27	ZBTB40	T	1	1
ACTA1	58	broad.mit.edu	36	1	227634435	227634435	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:227634435T>C	uc001htm.1	-	c.737A>G	c.(736-738)GAC>GGC	p.D246G		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	246					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)									0.459459	55.77441	55.826913	17	20	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	227634435	227634435	192	1	T	C	C	58	58	ACTA1	C	4	4
EPHA8	2046	broad.mit.edu	36	1	22768412	22768412	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22768412G>A	uc001bfx.1	+	c.138G>A	c.(136-138)TGG>TGA	p.W46*	EPHA8_uc001bfw.1_Nonsense_Mutation_p.W46*	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	46	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|skin(1)	12		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)								520				0.229773	155.282368	175.964909	71	238	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	Nonsense_Mutation	SNP	22768412	22768412	5366	1	G	A	A	42	42	EPHA8	A	5	2
NUP133	55746	broad.mit.edu	36	1	227686498	227686498	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:227686498G>T	uc001htn.1	-	c.1518C>A	c.(1516-1518)ACC>ACA	p.T506T		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	506					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|ovary(1)	5	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)								578				0.15748	31.909833	46.131208	20	107	GG		KEEP	---	---	---	---	capture			Silent	SNP	227686498	227686498	11159	1	G	T	T	47	47	NUP133	T	3	3
ABCB10	23456	broad.mit.edu	36	1	227751628	227751628	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:227751628G>A	uc001htp.2	-	c.694C>T	c.(694-696)CGT>TGT	p.R232C		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	232	Mitochondrial intermembrane (Potential).|Helical; (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)												0.422857	208.016724	208.925894	74	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	227751628	227751628	42	1	G	A	A	37	37	ABCB10	A	1	1
EPHA8	2046	broad.mit.edu	36	1	22775930	22775930	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22775930G>A	uc001bfx.1	+	c.793G>A	c.(793-795)GGC>AGC	p.G265S	EPHA8_uc001bfw.1_Missense_Mutation_p.G265S	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	265	Extracellular (Potential).|Cys-rich.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|skin(1)	12		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)								520				0.307692	51.06579	53.214953	20	45	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	Missense_Mutation	SNP	22775930	22775930	5366	1	G	A	A	39	39	EPHA8	A	1	1
URB2	9816	broad.mit.edu	36	1	227839378	227839378	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:227839378C>T	uc001hts.1	+	c.2395C>T	c.(2395-2397)CCT>TCT	p.P799S	URB2_uc009xfd.1_Missense_Mutation_p.P799S	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	799						nucleolus				central_nervous_system(2)|ovary(1)	3										340				0.377593	265.759317	268.930584	91	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	227839378	227839378	17587	1	C	T	T	22	22	URB2	T	2	2
C1QA	712	broad.mit.edu	36	1	22836798	22836798	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22836798G>A	uc001bfy.1	+	c.102G>A	c.(100-102)GGG>GGA	p.G34G	C1QA_uc001bfz.1_Silent_p.G34G	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	34	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.263158	38.497738	41.390428	15	42	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Silent	SNP	22836798	22836798	2021	1	G	A	A	43	43	C1QA	A	2	2
C1QA	712	broad.mit.edu	36	1	22838022	22838022	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22838022C>T	uc001bfy.1	+	c.273C>T	c.(271-273)CTC>CTT	p.L91L	C1QA_uc001bfz.1_Silent_p.L91L	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	91	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.315789	14.742269	15.316275	6	13	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Silent	SNP	22838022	22838022	2021	1	C	T	T	31	31	C1QA	T	1	1
GALNT2	2590	broad.mit.edu	36	1	228439085	228439085	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:228439085C>T	uc001htt.1	+	c.598C>T	c.(598-600)CGA>TGA	p.R200*		NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	200	Lumenal (Potential).|Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)												0.445545	250.719661	251.24107	90	112	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	228439085	228439085	6477	1	C	T	T	31	31	GALNT2	T	5	1
PGBD5	79605	broad.mit.edu	36	1	228553424	228553424	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:228553424A>C	uc001htv.1	-	c.887T>G	c.(886-888)TTC>TGC	p.F296C		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	197						integral to membrane				ovary(2)|central_nervous_system(1)	3	Breast(184;0.0397)	Prostate(94;0.167)												0.152318	46.231534	63.698665	23	128	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.201)	Missense_Mutation	SNP	228553424	228553424	12207	1	A	C	C	9	9	PGBD5	C	4	4
C1QB	713	broad.mit.edu	36	1	22859932	22859932	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22859932G>T	uc001bgd.1	+	c.228G>T	c.(226-228)GAG>GAT	p.E76D		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	76	Collagen-like 2.|Collagen-like 1.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.375691	166.319188	168.786579	68	113	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Missense_Mutation	SNP	22859932	22859932	2022	1	G	T	T	33	33	C1QB	T	3	3
AGT	183	broad.mit.edu	36	1	228905525	228905525	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:228905525C>T	uc001hty.2	-	c.1443G>A	c.(1441-1443)CCG>CCA	p.P481P	AGT_uc009xfe.1_3'UTR|AGT_uc009xff.1_Silent_p.P453P	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	481					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|oxygen and reactive oxygen species metabolic process|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|regulation of natriuresis|regulation of proteolysis|regulation of renal output by angiotensin|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)			Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)									0.391304	139.830185	141.253248	54	84	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Silent	SNP	228905525	228905525	402	1	C	T	T	27	27	AGT	T	1	1
AGT	183	broad.mit.edu	36	1	228912441	228912441	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:228912441C>T	uc001hty.2	-	c.779G>A	c.(778-780)GGA>GAA	p.G260E	AGT_uc009xfe.1_Missense_Mutation_p.G260E|AGT_uc009xff.1_Missense_Mutation_p.G232E	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	260					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|oxygen and reactive oxygen species metabolic process|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|regulation of natriuresis|regulation of proteolysis|regulation of renal output by angiotensin|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)			Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)									0.436426	352.946482	353.976367	127	164	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Missense_Mutation	SNP	228912441	228912441	402	1	C	T	T	30	30	AGT	T	2	2
AGT	183	broad.mit.edu	36	1	228912713	228912713	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:228912713C>T	uc001hty.2	-	c.507G>A	c.(505-507)AAG>AAA	p.K169K	AGT_uc009xfe.1_Silent_p.K169K|AGT_uc009xff.1_Silent_p.K141K	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	169					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|oxygen and reactive oxygen species metabolic process|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|regulation of natriuresis|regulation of proteolysis|regulation of renal output by angiotensin|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)			Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)									0.183784	64.349516	81.704439	34	151	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Silent	SNP	228912713	228912713	402	1	C	T	T	32	32	AGT	T	2	2
CAPN9	10753	broad.mit.edu	36	1	228957711	228957711	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:228957711C>T	uc001htz.1	+	c.219C>T	c.(217-219)ATC>ATT	p.I73I	CAPN9_uc009xfg.1_Intron|CAPN9_uc001hua.1_Silent_p.I73I	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	73	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)												0.428571	141.599703	142.130229	51	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	228957711	228957711	2751	1	C	T	T	31	31	CAPN9	T	1	1
C1orf198	84886	broad.mit.edu	36	1	229046205	229046205	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229046205C>T	uc001hub.1	-	c.445G>A	c.(445-447)GCC>ACC	p.A149T	C1orf198_uc009xfh.1_Missense_Mutation_p.A19T|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.A111T	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	149											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)												0.482105	628.697838	628.831764	229	246	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	229046205	229046205	2094	1	C	T	T	27	27	C1orf198	T	1	1
TTC13	79573	broad.mit.edu	36	1	229133735	229133735	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229133735A>C	uc001huf.2	-	c.1232T>G	c.(1231-1233)GTT>GGT	p.V411G	TTC13_uc009xfi.1_Missense_Mutation_p.V358G|TTC13_uc009xfj.1_Non-coding_Transcript|TTC13_uc001hug.2_Missense_Mutation_p.V358G|TTC13_uc009xfk.1_Missense_Mutation_p.V301G	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	411	TPR 7.						binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)												0.426923	362.826729	364.047642	111	149	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(196;0.243)	Missense_Mutation	SNP	229133735	229133735	17234	1	A	C	C	2	2	TTC13	C	4	4
TTC13	79573	broad.mit.edu	36	1	229142859	229142859	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229142859G>A	uc001huf.2	-	c.739C>T	c.(739-741)CCC>TCC	p.P247S	TTC13_uc009xfi.1_Missense_Mutation_p.P194S|TTC13_uc009xfj.1_Non-coding_Transcript|TTC13_uc001hug.2_Missense_Mutation_p.P194S|TTC13_uc009xfk.1_Missense_Mutation_p.P137S	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	247	TPR 2.						binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)												0.22963	65.63955	74.704464	31	104	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(196;0.243)	Missense_Mutation	SNP	229142859	229142859	17234	1	G	A	A	42	42	TTC13	A	2	2
TTC13	79573	broad.mit.edu	36	1	229147772	229147772	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229147772T>G	uc001huf.2	-	c.565A>C	c.(565-567)AAG>CAG	p.K189Q	TTC13_uc009xfi.1_Intron|TTC13_uc009xfj.1_Non-coding_Transcript|TTC13_uc001hug.2_Intron|TTC13_uc009xfk.1_Intron	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	189							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)												0.202222	233.486691	270.538702	91	359	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(196;0.243)	Missense_Mutation	SNP	229147772	229147772	17234	1	T	G	G	64	64	TTC13	G	4	4
TRIM67	440730	broad.mit.edu	36	1	229403783	229403783	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229403783C>T	uc009xfn.1	+	c.1431C>T	c.(1429-1431)GGC>GGT	p.G477G		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	477	COS.					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)							p.G477G(HS895.T-Tumor)	1001				0.230769	24.179957	27.630749	12	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	229403783	229403783	17089	1	C	T	T	27	27	TRIM67	T	1	1
C1orf131	128061	broad.mit.edu	36	1	229441346	229441346	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229441346C>A	uc001hul.1	-	c.330G>T	c.(328-330)GAG>GAT	p.E110D	C1orf131_uc001hum.1_Missense_Mutation_p.E110D|C1orf131_uc001hun.1_Missense_Mutation_p.E110D|C1orf131_uc001huo.1_Missense_Mutation_p.E110D|GNPAT_uc009xfo.1_5'Flank|GNPAT_uc009xfp.1_5'Flank|GNPAT_uc001hup.2_5'Flank	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	hypothetical protein LOC128061	110										central_nervous_system(1)	1	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)												0.169935	40.341531	56.132168	26	127	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	229441346	229441346	2065	1	C	A	A	32	32	C1orf131	A	3	3
GNPAT	8443	broad.mit.edu	36	1	229465168	229465168	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229465168C>A	uc001hup.2	+	c.515C>A	c.(514-516)TCT>TAT	p.S172Y	GNPAT_uc009xfo.1_Missense_Mutation_p.S63Y|GNPAT_uc009xfp.1_Missense_Mutation_p.S111Y	NM_014236	NP_055051	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	172					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			ovary(3)|breast(1)	4	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)												0.151786	48.187154	74.217178	34	190	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	229465168	229465168	6810	1	C	A	A	32	32	GNPAT	A	3	3
GNPAT	8443	broad.mit.edu	36	1	229476346	229476346	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229476346C>T	uc001hup.2	+	c.1658C>T	c.(1657-1659)ACG>ATG	p.T553M		NM_014236	NP_055051	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	553					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			ovary(3)|breast(1)	4	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)												0.414013	175.43453	176.450646	65	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	229476346	229476346	6810	1	C	T	T	19	19	GNPAT	T	1	1
EXOC8	149371	broad.mit.edu	36	1	229538344	229538344	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229538344C>A	uc001huq.1	-	c.1771G>T	c.(1771-1773)GAA>TAA	p.E591*	C1orf124_uc001hur.1_5'Flank|C1orf124_uc001hus.1_5'Flank|C1orf124_uc001hut.1_5'Flank	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	591					exocytosis|protein transport	growth cone|nucleus	protein binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)												0.222749	92.092088	107.031936	47	164	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	229538344	229538344	5504	1	C	A	A	32	32	EXOC8	A	5	3
EXOC8	149371	broad.mit.edu	36	1	229538686	229538686	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229538686C>T	uc001huq.1	-	c.1429G>A	c.(1429-1431)GAT>AAT	p.D477N	C1orf124_uc001hur.1_5'Flank|C1orf124_uc001hus.1_5'Flank|C1orf124_uc001hut.1_5'Flank	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	477					exocytosis|protein transport	growth cone|nucleus	protein binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)												0.234694	50.874215	57.18629	23	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	229538686	229538686	5504	1	C	T	T	31	31	EXOC8	T	1	1
EXOC8	149371	broad.mit.edu	36	1	229539048	229539048	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229539048G>A	uc001huq.1	-	c.1067C>T	c.(1066-1068)GCG>GTG	p.A356V	C1orf124_uc001hur.1_5'Flank|C1orf124_uc001hus.1_5'Flank|C1orf124_uc001hut.1_5'Flank	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	356					exocytosis|protein transport	growth cone|nucleus	protein binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)												0.235772	121.118879	136.847221	58	188	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	229539048	229539048	5504	1	G	A	A	38	38	EXOC8	A	1	1
C1orf124	83932	broad.mit.edu	36	1	229540912	229540912	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229540912G>A	uc001hur.1	+	c.160G>A	c.(160-162)GAC>AAC	p.D54N	EXOC8_uc001huq.1_5'Flank|C1orf124_uc001hus.1_Missense_Mutation_p.D54N|C1orf124_uc001hut.1_Missense_Mutation_p.D54N	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	54					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				Esophageal Squamous(43;65 937 18756 45127 47168)								0.383803	297.506787	300.868413	109	175	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	229540912	229540912	2059	1	G	A	A	37	37	C1orf124	A	1	1
EPHB2	2048	broad.mit.edu	36	1	22984027	22984027	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22984027G>A	uc009vqj.1	+	c.682G>A	c.(682-684)GCC>ACC	p.A228T	EPHB2_uc001bge.1_Missense_Mutation_p.A228T|EPHB2_uc001bgf.1_Missense_Mutation_p.A228T	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	228	Extracellular (Potential).|Cys-rich.				axon guidance|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)								437				0.467949	196.580414	196.716754	73	83	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	Missense_Mutation	SNP	22984027	22984027	5368	1	G	A	A	38	38	EPHB2	A	1	1
DISC1	27185	broad.mit.edu	36	1	229896417	229896417	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229896417G>A	uc001huz.1	+	c.290G>A	c.(289-291)AGC>AAC	p.S97N	DISC1_uc001hux.1_Missense_Mutation_p.S97N|DISC1_uc001huy.1_Missense_Mutation_p.S97N|DISC1_uc009xfr.1_Missense_Mutation_p.S52N|DISC1_uc001hva.1_Missense_Mutation_p.S97N|DISC1_uc001hvb.2_Missense_Mutation_p.S88N|DISC1_uc001hvc.2_Missense_Mutation_p.S52N	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	97	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding				0		all_cancers(173;0.0208)|Prostate(94;0.0975)												0.470588	141.194609	141.2703	48	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	229896417	229896417	4717	1	G	A	A	34	34	DISC1	A	2	2
SIPA1L2	57568	broad.mit.edu	36	1	230604787	230604787	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:230604787G>A	uc001hvg.1	-	c.4996C>T	c.(4996-4998)CGA>TGA	p.R1666*	SIPA1L2_uc001hvf.1_Nonsense_Mutation_p.R722*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1666	Potential.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.402778	159.514517	160.706155	58	86	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	230604787	230604787	14825	1	G	A	A	37	37	SIPA1L2	A	5	1
SIPA1L2	57568	broad.mit.edu	36	1	230641491	230641491	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:230641491T>C	uc001hvg.1	-	c.4017A>G	c.(4015-4017)ATA>ATG	p.I1339M	SIPA1L2_uc001hvf.1_Missense_Mutation_p.I413M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1339	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.164835	33.077807	42.77232	15	76	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	230641491	230641491	14825	1	T	C	C	49	49	SIPA1L2	C	4	4
SIPA1L2	57568	broad.mit.edu	36	1	230667268	230667268	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:230667268G>T	uc001hvg.1	-	c.2761C>A	c.(2761-2763)CTC>ATC	p.L921I	SIPA1L2_uc001hvf.1_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	921					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.26506	103.913421	112.20312	44	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	230667268	230667268	14825	1	G	T	T	35	35	SIPA1L2	T	3	3
SIPA1L2	57568	broad.mit.edu	36	1	230686272	230686272	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:230686272T>C	uc001hvg.1	-	c.1870A>G	c.(1870-1872)ATG>GTG	p.M624V		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	624	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.477011	276.424154	276.503443	83	91	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	230686272	230686272	14825	1	T	C	C	50	50	SIPA1L2	C	4	4
EPHB2	2048	broad.mit.edu	36	1	23092044	23092044	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23092044C>A	uc009vqj.1	+	c.1509C>A	c.(1507-1509)ATC>ATA	p.I503I	EPHB2_uc001bge.1_Silent_p.I503I|EPHB2_uc001bgf.1_Silent_p.I503I	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	503	Fibronectin type-III 2.|Extracellular (Potential).				axon guidance|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)								437				0.219653	75.042119	87.581936	38	135	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	Silent	SNP	23092044	23092044	5368	1	C	A	A	32	32	EPHB2	A	3	3
KIAA1383	54627	broad.mit.edu	36	1	231007462	231007462	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:231007462C>A	uc001hvh.2	+	c.70C>A	c.(70-72)CTT>ATT	p.L24I		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	Error:Variant_position_missing_in_Q9P2G4_after_alignment										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)												0.473545	485.944584	486.178149	179	199	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	231007462	231007462	8537	1	C	A	A	32	32	KIAA1383	A	3	3
EPHB2	2048	broad.mit.edu	36	1	23105098	23105098	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23105098T>C	uc009vqj.1	+	c.1797T>C	c.(1795-1797)CCT>CCC	p.P599P	EPHB2_uc001bge.1_Silent_p.P600P|EPHB2_uc001bgf.1_Silent_p.P599P	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	599	Cytoplasmic (Potential).				axon guidance|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)								437				0.360544	171.139975	173.654326	53	94	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	Silent	SNP	23105098	23105098	5368	1	T	C	C	56	56	EPHB2	C	4	4
EPHB2	2048	broad.mit.edu	36	1	23111664	23111664	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23111664C>A	uc009vqj.1	+	c.2837C>A	c.(2836-2838)TCT>TAT	p.S946Y	EPHB2_uc001bge.1_Missense_Mutation_p.S947Y|EPHB2_uc001bgf.1_Missense_Mutation_p.S946Y	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	946	Cytoplasmic (Potential).|SAM.				axon guidance|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)								437				0.201923	36.304957	44.905734	21	83	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	Missense_Mutation	SNP	23111664	23111664	5368	1	C	A	A	32	32	EPHB2	A	3	3
EPHB2	2048	broad.mit.edu	36	1	23112941	23112941	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23112941C>T	uc009vqj.1	+	c.3159C>T	c.(3157-3159)TGC>TGT	p.C1053C	EPHB2_uc001bge.1_3'UTR|EPHB2_uc001bgf.1_3'UTR	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	1053	Cytoplasmic (Potential).				axon guidance|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)								437				0.208333	10.26151	12.1528	5	19	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	Silent	SNP	23112941	23112941	5368	1	C	T	T	27	27	EPHB2	T	1	1
PCNXL2	80003	broad.mit.edu	36	1	231363667	231363667	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:231363667G>A	uc001hvl.2	-	c.3339C>T	c.(3337-3339)AGC>AGT	p.S1113S	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.1_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1113	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)												0.282051	52.454377	55.761547	22	56	GG		KEEP	---	---	---	---	capture			Silent	SNP	231363667	231363667	12012	1	G	A	A	38	38	PCNXL2	A	1	1
PCNXL2	80003	broad.mit.edu	36	1	231464491	231464491	+	Nonsense_Mutation	SNP	G	A	A	rs71638458	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:231464491G>A	uc001hvl.2	-	c.403C>T	c.(403-405)CGA>TGA	p.R135*	PCNXL2_uc009xfu.1_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	135						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)												0.213166	136.051772	160.289926	68	251	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	231464491	231464491	12012	1	G	A	A	37	37	PCNXL2	A	5	1
RER1	11079	broad.mit.edu	36	1	2318433	2318433	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2318433G>T	uc001aje.1	+	c.100G>T	c.(100-102)GAC>TAC	p.D34Y	RER1_uc001ajf.1_Missense_Mutation_p.D34Y	NM_007033	NP_008964	O15258	RER1_HUMAN	RER1 retention in endoplasmic reticulum 1	34					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane					0	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)												0.190045	73.120733	92.990573	42	179	GG		KEEP	---	---	---	---	capture		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	Missense_Mutation	SNP	2318433	2318433	13699	1	G	T	T	33	33	RER1	T	3	3
TARBP1	6894	broad.mit.edu	36	1	232631641	232631641	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:232631641T>G	uc001hwd.1	-	c.2924A>C	c.(2923-2925)AAA>ACA	p.K975T		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	975					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)	2	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)												0.514124	312.649757	312.681531	91	86	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		Missense_Mutation	SNP	232631641	232631641	16076	1	T	G	G	64	64	TARBP1	G	4	4
TARBP1	6894	broad.mit.edu	36	1	232635924	232635924	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:232635924C>T	uc001hwd.1	-	c.2249G>A	c.(2248-2250)CGT>CAT	p.R750H		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	750					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)	2	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)												0.437908	188.707058	189.219799	67	86	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		Missense_Mutation	SNP	232635924	232635924	16076	1	C	T	T	19	19	TARBP1	T	1	1
TARBP1	6894	broad.mit.edu	36	1	232649209	232649209	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:232649209C>A	uc001hwd.1	-	c.2097G>T	c.(2095-2097)TTG>TTT	p.L699F		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	699					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)	2	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)												0.20202	73.055959	89.434066	40	158	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		Missense_Mutation	SNP	232649209	232649209	16076	1	C	A	A	29	29	TARBP1	A	3	3
KDM1A	23028	broad.mit.edu	36	1	23282263	23282263	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23282263T>C	uc001bgj.1	+	c.2450T>C	c.(2449-2451)ATT>ACT	p.I817T	KDM1A_uc001bgi.1_Missense_Mutation_p.I793T	NM_015013	NP_055828	O60341	KDM1A_HUMAN	amine oxidase (flavin containing) domain 2	793	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|oxidation-reduction process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|promoter binding|transcription repressor activity			ovary(1)|lung(1)	2														0.467949	232.4342	232.575232	73	83	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23282263	23282263	8428	1	T	C	C	52	52	KDM1A	C	4	4
LUZP1	7798	broad.mit.edu	36	1	23290296	23290296	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23290296C>T	uc001bgk.1	-	c.3046G>A	c.(3046-3048)GCA>ACA	p.A1016T	LUZP1_uc001bgl.2_Missense_Mutation_p.A1016T|LUZP1_uc001bgm.1_Missense_Mutation_p.A1016T	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1016						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)												0.372093	41.085829	41.704888	16	27	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	Missense_Mutation	SNP	23290296	23290296	9462	1	C	T	T	27	27	LUZP1	T	1	1
LUZP1	7798	broad.mit.edu	36	1	23290526	23290526	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23290526C>T	uc001bgk.1	-	c.2816G>A	c.(2815-2817)CGA>CAA	p.R939Q	LUZP1_uc001bgl.2_Missense_Mutation_p.R939Q|LUZP1_uc001bgm.1_Missense_Mutation_p.R939Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	939						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)												0.147541	68.17903	104.568178	45	260	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	Missense_Mutation	SNP	23290526	23290526	9462	1	C	T	T	31	31	LUZP1	T	1	1
LUZP1	7798	broad.mit.edu	36	1	23292841	23292841	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23292841A>C	uc001bgk.1	-	c.501T>G	c.(499-501)TCT>TCG	p.S167S	LUZP1_uc001bgl.2_Silent_p.S167S|LUZP1_uc001bgm.1_Silent_p.S167S	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	167	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)												0.195556	92.865435	112.313495	44	181	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	Silent	SNP	23292841	23292841	9462	1	A	C	C	3	3	LUZP1	C	4	4
PEX10	5192	broad.mit.edu	36	1	2331747	2331747	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2331747G>A	uc001ajg.1	-	c.116C>T	c.(115-117)GCG>GTG	p.A39V	PEX10_uc001ajh.1_Missense_Mutation_p.A39V	NM_153818	NP_722540	O60683	PEX10_HUMAN	peroxisome biogenesis factor 10 isoform 1	39					protein import into peroxisome matrix|protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)				GBM(12;9 508 1649 13619)								0.461538	66.891013	66.958329	24	28	GG		KEEP	---	---	---	---	capture		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	Missense_Mutation	SNP	2331747	2331747	12158	1	G	A	A	38	38	PEX10	A	1	1
RBM34	23029	broad.mit.edu	36	1	233390829	233390829	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:233390829A>G	uc001hwn.1	-	c.213_splice	c.e2+1	p.K71_splice	RBM34_uc001hwo.1_Splice_Site_SNP|ARID4B_uc001hwp.1_Splice_Site_SNP_p.K71_splice	NM_015014	NP_055829			RNA binding motif protein 34							nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)												0.350877	195.773776	199.116928	60	111	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		Splice_Site_SNP	SNP	233390829	233390829	13593	1	A	G	G	14	14	RBM34	G	5	4
ARID4B	51742	broad.mit.edu	36	1	233424089	233424089	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:233424089G>A	uc001hwq.1	-	c.1987C>T	c.(1987-1989)CGG>TGG	p.R663W	ARID4B_uc001hwr.1_Missense_Mutation_p.R577W|ARID4B_uc001hws.2_Missense_Mutation_p.R577W|ARID4B_uc001hwt.2_Missense_Mutation_p.R344W|ARID4B_uc001hwp.1_5'UTR	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	663					chromatin assembly or disassembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	chromatin binding|DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)												0.149254	57.430017	89.06473	40	228	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		Missense_Mutation	SNP	233424089	233424089	935	1	G	A	A	37	37	ARID4B	A	1	1
B3GALNT2	148789	broad.mit.edu	36	1	233685617	233685617	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:233685617G>A	uc001hxc.1	-	c.1028C>T	c.(1027-1029)ACT>ATT	p.T343I		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	343	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)												0.478261	127.688456	127.726605	44	48	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		Missense_Mutation	SNP	233685617	233685617	1267	1	G	A	A	36	36	B3GALNT2	A	2	2
LYST	1130	broad.mit.edu	36	1	233927177	233927177	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:233927177T>G	uc001hxj.1	-	c.10393A>C	c.(10393-10395)AAA>CAA	p.K3465Q	LYST_uc001hxi.1_Missense_Mutation_p.K689Q	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3465					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)												0.472603	215.864229	215.959431	69	77	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		Missense_Mutation	SNP	233927177	233927177	9505	1	T	G	G	64	64	LYST	G	4	4
LYST	1130	broad.mit.edu	36	1	233971443	233971443	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:233971443G>A	uc001hxj.1	-	c.8260C>T	c.(8260-8262)CCA>TCA	p.P2754S	LYST_uc009xga.1_Missense_Mutation_p.P390S	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2754					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)												0.193694	82.725925	102.146589	43	179	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		Missense_Mutation	SNP	233971443	233971443	9505	1	G	A	A	42	42	LYST	A	2	2
LYST	1130	broad.mit.edu	36	1	234023487	234023487	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234023487C>A	uc001hxj.1	-	c.4055G>T	c.(4054-4056)AGA>ATA	p.R1352I	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.R1352I	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1352					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)												0.436975	281.647233	282.473879	104	134	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		Missense_Mutation	SNP	234023487	234023487	9505	1	C	A	A	32	32	LYST	A	3	3
LYST	1130	broad.mit.edu	36	1	234036421	234036421	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234036421C>A	uc001hxj.1	-	c.2638G>T	c.(2638-2640)GAA>TAA	p.E880*	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc001hxl.1_Nonsense_Mutation_p.E880*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	880					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)												0.172078	85.755101	117.092708	53	255	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		Nonsense_Mutation	SNP	234036421	234036421	9505	1	C	A	A	32	32	LYST	A	5	3
NID1	4811	broad.mit.edu	36	1	234207883	234207883	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234207883G>A	uc001hxo.1	-	c.3651C>T	c.(3649-3651)GGC>GGT	p.G1217G	NID1_uc009xgc.1_Silent_p.G298G|NID1_uc009xgd.1_Silent_p.G1084G	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	1217	EGF-like 6.				bioluminescence|cell-matrix adhesion|protein-chromophore linkage	basement membrane|membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)			Becaplermin(DB00102)|Urokinase(DB00013)									0.492857	189.578946	189.584725	69	71	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Silent	SNP	234207883	234207883	10815	1	G	A	A	38	38	NID1	A	1	1
NID1	4811	broad.mit.edu	36	1	234241859	234241859	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234241859G>A	uc001hxo.1	-	c.2512C>T	c.(2512-2514)CGT>TGT	p.R838C	NID1_uc009xgc.1_5'UTR|NID1_uc009xgd.1_Intron	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	838	EGF-like 5; calcium-binding (Potential).				bioluminescence|cell-matrix adhesion|protein-chromophore linkage	basement membrane|membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)			Becaplermin(DB00102)|Urokinase(DB00013)									0.404372	216.911196	218.374744	74	109	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Missense_Mutation	SNP	234241859	234241859	10815	1	G	A	A	39	39	NID1	A	1	1
EDARADD	128178	broad.mit.edu	36	1	234624378	234624378	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234624378G>A	uc001hxu.1	+	c.11G>A	c.(10-12)AGG>AAG	p.R4K	EDARADD_uc001hxv.1_5'Flank	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A	4					cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)												0.141026	39.038141	58.439051	22	134	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		Missense_Mutation	SNP	234624378	234624378	5093	1	G	A	A	35	35	EDARADD	A	2	2
LGALS8	3964	broad.mit.edu	36	1	234774732	234774732	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234774732G>A	uc001hxw.1	+	c.824G>A	c.(823-825)CGC>CAC	p.R275H	LGALS8_uc001hxy.1_Missense_Mutation_p.R275H|LGALS8_uc001hxz.1_Missense_Mutation_p.R233H|LGALS8_uc009xgg.1_Non-coding_Transcript|LGALS8_uc001hya.1_Missense_Mutation_p.R233H|LGALS8_uc001hyb.1_Missense_Mutation_p.R233H|LGALS8_uc001hyc.1_Missense_Mutation_p.R216H	NM_201545	NP_963839	O00214	LEG8_HUMAN	galectin-8 isoform a	233	Galectin 2.					cytoplasm|extracellular space	sugar binding			ovary(1)	1	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)												0.228311	104.338859	119.17148	50	169	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		Missense_Mutation	SNP	234774732	234774732	9073	1	G	A	A	38	38	LGALS8	A	1	1
HEATR1	55127	broad.mit.edu	36	1	234788983	234788983	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234788983G>A	uc001hyd.1	-	c.4846C>T	c.(4846-4848)CGC>TGC	p.R1616C	HEATR1_uc009xgh.1_Missense_Mutation_p.R778C	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1616					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)												0.424107	262.174949	263.302522	95	129	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		Missense_Mutation	SNP	234788983	234788983	7310	1	G	A	A	37	37	HEATR1	A	1	1
HEATR1	55127	broad.mit.edu	36	1	234822013	234822013	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234822013A>C	uc001hyd.1	-	c.1325T>G	c.(1324-1326)GTT>GGT	p.V442G		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	442					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)												0.184466	93.635701	112.864341	38	168	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		Missense_Mutation	SNP	234822013	234822013	7310	1	A	C	C	2	2	HEATR1	C	4	4
HEATR1	55127	broad.mit.edu	36	1	234826773	234826773	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234826773G>A	uc001hyd.1	-	c.730C>T	c.(730-732)CCC>TCC	p.P244S		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	244					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)												0.182836	95.013117	120.331027	49	219	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		Missense_Mutation	SNP	234826773	234826773	7310	1	G	A	A	41	41	HEATR1	A	2	2
ACTN2	88	broad.mit.edu	36	1	234987537	234987537	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234987537C>A	uc001hyf.2	+	c.2283C>A	c.(2281-2283)TCC>TCA	p.S761S	ACTN2_uc001hyg.2_Silent_p.S553S|ACTN2_uc009xgi.1_Silent_p.S761S|ACTN2_uc001hyh.2_Silent_p.S449S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	761	EF-hand 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)												0.380597	131.6781	133.358671	51	83	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		Silent	SNP	234987537	234987537	206	1	C	A	A	24	24	ACTN2	A	3	3
ACTN2	88	broad.mit.edu	36	1	234992506	234992506	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234992506G>A	uc001hyf.2	+	c.2649G>A	c.(2647-2649)GCG>GCA	p.A883A	ACTN2_uc001hyg.2_Silent_p.A675A|ACTN2_uc009xgi.1_Silent_p.A883A|ACTN2_uc001hyh.2_Silent_p.A571A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	883					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)												0.240506	37.270368	42.141421	19	60	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		Silent	SNP	234992506	234992506	206	1	G	A	A	40	40	ACTN2	A	1	1
MTR	4548	broad.mit.edu	36	1	235124450	235124450	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235124450G>A	uc001hyi.2	+	c.3375G>A	c.(3373-3375)ATG>ATA	p.M1125I		NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1125	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)			Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)									0.238095	92.615373	103.147569	40	128	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Missense_Mutation	SNP	235124450	235124450	10351	1	G	A	A	47	47	MTR	A	2	2
RYR2	6262	broad.mit.edu	36	1	235599473	235599473	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235599473G>A	uc001hyl.1	+	c.326G>A	c.(325-327)GGT>GAT	p.G109D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	109	Cytoplasmic (By similarity).				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|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)												0.714286	15.977308	16.265501	5	2	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235599473	235599473	14249	1	G	A	A	44	44	RYR2	A	2	2
ZNF436	80818	broad.mit.edu	36	1	23561904	23561904	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23561904T>C	uc001bgt.1	-	c.558A>G	c.(556-558)AGA>AGG	p.R186R	ZNF436_uc001bgu.1_Silent_p.R186R	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	186	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)												0.456	585.913041	586.541344	171	204	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	Silent	SNP	23561904	23561904	18502	1	T	C	C	62	62	ZNF436	C	4	4
RYR2	6262	broad.mit.edu	36	1	235653053	235653053	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235653053G>A	uc001hyl.1	+	c.887G>A	c.(886-888)CGA>CAA	p.R296Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	296	Cytoplasmic (By similarity).|MIR 4.				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|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)												0.181818	104.143876	133.422037	56	252	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235653053	235653053	14249	1	G	A	A	37	37	RYR2	A	1	1
RYR2	6262	broad.mit.edu	36	1	235684434	235684434	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235684434G>A	uc001hyl.1	+	c.1413G>A	c.(1411-1413)GAG>GAA	p.E471E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	471	Cytoplasmic (By similarity).				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|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)												0.254386	66.215335	72.461174	29	85	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Silent	SNP	235684434	235684434	14249	1	G	A	A	34	34	RYR2	A	2	2
RYR2	6262	broad.mit.edu	36	1	235726553	235726553	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235726553G>A	uc001hyl.1	+	c.2081G>A	c.(2080-2082)CGA>CAA	p.R694Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	694	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|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)												0.392265	188.287588	190.125286	71	110	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235726553	235726553	14249	1	G	A	A	37	37	RYR2	A	1	1
RYR2	6262	broad.mit.edu	36	1	235780475	235780475	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235780475G>T	uc001hyl.1	+	c.3075G>T	c.(3073-3075)AAG>AAT	p.K1025N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1025	Cytoplasmic (By similarity).|2.|B30.2/SPRY 2.|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|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)												0.178571	7.354675	10.082649	5	23	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235780475	235780475	14249	1	G	T	T	33	33	RYR2	T	3	3
RYR2	6262	broad.mit.edu	36	1	236013786	236013786	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:236013786G>T	uc001hyl.1	+	c.12151G>T	c.(12151-12153)GCG>TCG	p.A4051S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4051	EF-hand.				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|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)												0.213115	26.638792	31.280514	13	48	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	236013786	236013786	14249	1	G	T	T	34	34	RYR2	T	3	3
RYR2	6262	broad.mit.edu	36	1	236027999	236027999	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:236027999A>C	uc001hyl.1	+	c.13996A>C	c.(13996-13998)ATC>CTC	p.I4666L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4666					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|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)												0.3125	29.73934	30.740278	10	22	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	236027999	236027999	14249	1	A	C	C	4	4	RYR2	C	4	4
ZP4	57829	broad.mit.edu	36	1	236115496	236115496	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:236115496G>A	uc001hym.1	-	c.978C>T	c.(976-978)AAC>AAT	p.N326N		NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	326	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)				NSCLC(166;160 2029 11600 18754 19936)								0.262774	82.641293	89.614872	36	101	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Silent	SNP	236115496	236115496	18822	1	G	A	A	36	36	ZP4	A	2	2
ASAP3	55616	broad.mit.edu	36	1	23632580	23632580	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23632580G>T	uc001bha.1	-	c.2052C>A	c.(2050-2052)TTC>TTA	p.F684L	ASAP3_uc001bgy.1_Missense_Mutation_p.F188L|ASAP3_uc001bgz.1_Non-coding_Transcript|ASAP3_uc001bhb.2_Missense_Mutation_p.F207L	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	684					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.215152	125.317692	150.142803	71	259	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23632580	23632580	1030	1	G	T	T	41	41	ASAP3	T	3	3
ASAP3	55616	broad.mit.edu	36	1	23640467	23640467	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23640467C>A	uc001bha.1	-	c.834G>T	c.(832-834)GAG>GAT	p.E278D	ASAP3_uc001bhb.2_5'Flank	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	278					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.25	45.828014	50.606375	21	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23640467	23640467	1030	1	C	A	A	24	24	ASAP3	A	3	3
E2F2	1870	broad.mit.edu	36	1	23715565	23715565	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23715565G>A	uc001bhe.1	-	c.894C>T	c.(892-894)ATC>ATT	p.I298I		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	298					G1 phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)												0.301587	46.301611	48.516201	19	44	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	Silent	SNP	23715565	23715565	5053	1	G	A	A	37	37	E2F2	A	1	1
CHRM3	1131	broad.mit.edu	36	1	238137898	238137898	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:238137898C>T	uc001hyp.1	+	c.524C>T	c.(523-525)ACG>ATG	p.T175M	CHRM3_uc009xgk.1_Missense_Mutation_p.T175M	NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	175	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)			Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.473856	395.132354	395.314624	145	161	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Missense_Mutation	SNP	238137898	238137898	3512	1	C	T	T	19	19	CHRM3	T	1	1
CHRM3	1131	broad.mit.edu	36	1	238138253	238138253	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:238138253C>T	uc001hyp.1	+	c.879C>T	c.(877-879)TAC>TAT	p.Y293Y	CHRM3_uc009xgk.1_Silent_p.Y293Y	NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	293	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)			Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.543103	179.652045	179.844263	63	53	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Silent	SNP	238138253	238138253	3512	1	C	T	T	19	19	CHRM3	T	1	1
GREM2	64388	broad.mit.edu	36	1	238723291	238723291	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:238723291G>A	uc001hys.1	-	c.108C>T	c.(106-108)GAC>GAT	p.D36D	GREM2_uc009xgm.1_Silent_p.D36D	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	36					BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)												0.483333	75.4544	75.469485	29	31	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		Silent	SNP	238723291	238723291	7040	1	G	A	A	40	40	GREM2	A	1	1
RPL11	6135	broad.mit.edu	36	1	23893812	23893812	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23893812G>A	uc001bhk.1	+	c.340G>A	c.(340-342)GAT>AAT	p.D114N	RPL11_uc001bhl.1_Missense_Mutation_p.D113N|RPL11_uc001bhm.1_Missense_Mutation_p.D103N|RPL11_uc001bhn.1_Missense_Mutation_p.D103N	NM_000975	NP_000966	P62913	RL11_HUMAN	ribosomal protein L11	114					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)												0.216327	112.352517	130.535825	53	192	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	Missense_Mutation	SNP	23893812	23893812	14036	1	G	A	A	37	37	RPL11	A	1	1
RGS7	6000	broad.mit.edu	36	1	239031391	239031391	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:239031391A>C	uc001hyv.2	-	c.1400T>G	c.(1399-1401)TTT>TGT	p.F467C	RGS7_uc001hyt.2_Missense_Mutation_p.F299C|RGS7_uc001hyu.2_Intron|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Intron	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	467					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|protein binding|signal transducer activity			ovary(4)|kidney(1)	5		all_cancers(173;0.0131)												0.206897	30.769026	35.38526	12	46	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.027)		Missense_Mutation	SNP	239031391	239031391	13784	1	A	C	C	1	1	RGS7	C	4	4
RGS7	6000	broad.mit.edu	36	1	239044667	239044667	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:239044667G>A	uc001hyv.2	-	c.817C>T	c.(817-819)CGG>TGG	p.R273W	RGS7_uc001hyt.2_Missense_Mutation_p.R105W|RGS7_uc001hyu.2_Missense_Mutation_p.R273W|RGS7_uc009xgn.1_Missense_Mutation_p.R220W|RGS7_uc001hyw.2_Missense_Mutation_p.R273W	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	273	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|kidney(1)	5		all_cancers(173;0.0131)												0.405286	256.550244	258.3312	92	135	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.027)		Missense_Mutation	SNP	239044667	239044667	13784	1	G	A	A	37	37	RGS7	A	1	1
TCEB3	6924	broad.mit.edu	36	1	23950779	23950779	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23950779C>T	uc001bho.1	+	c.1097C>T	c.(1096-1098)TCT>TTT	p.S366F		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	392					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)										OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.403226	285.33899	287.372635	100	148	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	Missense_Mutation	SNP	23950779	23950779	16207	1	C	T	T	32	32	TCEB3	T	2	2
FH	2271	broad.mit.edu	36	1	239747165	239747165	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:239747165G>T	uc001hyx.1	-	c.207C>A	c.(205-207)GGC>GGA	p.G69G		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	69					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)	4	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)				Melanoma(148;1573 2486 7381 46575)				119				0.464865	263.196261	263.397864	86	99	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	Silent	SNP	239747165	239747165	6112	1	G	T	T	38	38	FH	T	3	3
CHML	1122	broad.mit.edu	36	1	239863879	239863879	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:239863879C>T	uc001hzd.1	-	c.1813G>A	c.(1813-1815)GAA>AAA	p.E605K	OPN3_uc001hza.1_Intron|OPN3_uc001hzb.1_Intron|OPN3_uc001hzc.1_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	605					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)	4	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)												0.480597	497.700099	497.812432	161	174	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		Missense_Mutation	SNP	239863879	239863879	3485	1	C	T	T	32	32	CHML	T	2	2
CHML	1122	broad.mit.edu	36	1	239864156	239864156	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:239864156A>G	uc001hzd.1	-	c.1536T>C	c.(1534-1536)TGT>TGC	p.C512C	OPN3_uc001hza.1_Intron|OPN3_uc001hzb.1_Intron|OPN3_uc001hzc.1_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	512					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)	4	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)												0.234637	117.068215	128.591467	42	137	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		Silent	SNP	239864156	239864156	3485	1	A	G	G	2	2	CHML	G	4	4
CHML	1122	broad.mit.edu	36	1	239864953	239864953	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:239864953G>T	uc001hzd.1	-	c.739C>A	c.(739-741)CTT>ATT	p.L247I	OPN3_uc001hza.1_Intron|OPN3_uc001hzb.1_Intron|OPN3_uc001hzc.1_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	247					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)	4	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)												0.456311	257.393751	257.739357	94	112	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		Missense_Mutation	SNP	239864953	239864953	3485	1	G	T	T	33	33	CHML	T	3	3
GALE	2582	broad.mit.edu	36	1	23997255	23997255	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23997255G>A	uc009vqo.1	-	c.290C>T	c.(289-291)TCG>TTG	p.S97L	GALE_uc001bhv.1_Missense_Mutation_p.S97L|GALE_uc001bhw.1_Missense_Mutation_p.S97L|GALE_uc001bhx.1_Missense_Mutation_p.S97L|GALE_uc009vqp.1_Missense_Mutation_p.S97L|GALE_uc001bhy.1_Missense_Mutation_p.S97L|GALE_uc001bhz.1_Missense_Mutation_p.S23L|GALE_uc001bia.1_5'Flank|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	97					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)				Colon(17;142 583 2667 10036 24961)								0.389474	91.614851	92.641636	37	58	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	Missense_Mutation	SNP	23997255	23997255	6466	1	G	A	A	37	37	GALE	A	1	1
EXO1	9156	broad.mit.edu	36	1	240082240	240082240	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:240082240T>G	uc001hzh.1	+	c.185T>G	c.(184-186)TTT>TGT	p.F62C	EXO1_uc001hzi.1_Missense_Mutation_p.F62C|EXO1_uc001hzj.1_Missense_Mutation_p.F62C|EXO1_uc009xgq.1_Missense_Mutation_p.F62C	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	62	N-domain.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.0555)												0.182432	131.182001	159.203881	54	242	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		Missense_Mutation	SNP	240082240	240082240	5493	1	T	G	G	64	64	EXO1	G	4	4
EXO1	9156	broad.mit.edu	36	1	240119509	240119509	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:240119509G>T	uc001hzh.1	+	c.2525G>T	c.(2524-2526)AGA>ATA	p.R842I	EXO1_uc001hzi.1_3'UTR|EXO1_uc001hzj.1_Missense_Mutation_p.R842I|EXO1_uc009xgq.1_Missense_Mutation_p.R841I	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	842	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.0555)												0.181818	77.473697	101.568105	46	207	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		Missense_Mutation	SNP	240119509	240119509	5493	1	G	T	T	33	33	EXO1	T	3	3
HMGCL	3155	broad.mit.edu	36	1	24016572	24016572	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24016572G>T	uc001bib.1	-	c.233C>A	c.(232-234)TCT>TAT	p.S78Y	HMGCL_uc009vqr.1_Intron|HMGCL_uc001bic.1_Missense_Mutation_p.S53Y|HMGCL_uc009vqs.1_Missense_Mutation_p.S78Y|HMGCL_uc001bid.1_Missense_Mutation_p.S78Y	NM_000191	NP_000182	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	78					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)												0.251908	72.708958	80.037072	33	98	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	Missense_Mutation	SNP	24016572	24016572	7520	1	G	T	T	33	33	HMGCL	T	3	3
CNR2	1269	broad.mit.edu	36	1	24073653	24073653	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24073653G>A	uc001bif.1	-	c.1042C>T	c.(1042-1044)CCG>TCG	p.P348S	CNR2_uc009vqu.1_Missense_Mutation_p.P348S	NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	348	Cytoplasmic (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)			Nabilone(DB00486)									0.431579	352.082722	353.244926	123	162	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Missense_Mutation	SNP	24073653	24073653	3770	1	G	A	A	41	41	CNR2	A	2	2
PLCH2	9651	broad.mit.edu	36	1	2408283	2408283	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2408283G>A	uc001aji.1	+	c.894G>A	c.(892-894)GGG>GGA	p.G298G	PLCH2_uc009vle.1_Silent_p.G86G|PLCH2_uc001ajj.1_Silent_p.G86G|PLCH2_uc001ajk.1_Silent_p.G86G	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	298					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)												0.428571	16.146544	16.209057	6	8	GG		KEEP	---	---	---	---	capture		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	Silent	SNP	2408283	2408283	12464	1	G	A	A	42	42	PLCH2	A	2	2
CEP170	9859	broad.mit.edu	36	1	241394658	241394658	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:241394658G>A	uc001hzs.1	-	c.3227C>T	c.(3226-3228)TCT>TTT	p.S1076F	CEP170_uc001hzt.1_Missense_Mutation_p.S978F|CEP170_uc001hzu.1_Missense_Mutation_p.S978F|CEP170_uc001hzv.1_Missense_Mutation_p.S454F	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1076	Targeting to microtubules.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)												0.328125	55.648729	57.32746	21	43	GG		KEEP	---	---	---	---	capture	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		Missense_Mutation	SNP	241394658	241394658	3383	1	G	A	A	33	33	CEP170	A	2	2
AKT3	10000	broad.mit.edu	36	1	241782717	241782717	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:241782717C>T	uc001iab.1	-	c.1100G>A	c.(1099-1101)CGA>CAA	p.R367Q	AKT3_uc001hzz.1_Missense_Mutation_p.R367Q	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	367	Protein kinase.				protein phosphorylation|signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			lung(1)|central_nervous_system(1)	2	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)								274				0.462963	282.250644	282.510681	100	116	CC		KEEP	---	---	---	---	capture	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		Missense_Mutation	SNP	241782717	241782717	484	1	C	T	T	31	31	AKT3	T	1	1
PLCH2	9651	broad.mit.edu	36	1	2418207	2418207	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2418207C>T	uc001aji.1	+	c.2014C>T	c.(2014-2016)CGC>TGC	p.R672C	PLCH2_uc009vle.1_Missense_Mutation_p.R460C|PLCH2_uc001ajj.1_Missense_Mutation_p.R460C|PLCH2_uc001ajk.1_Missense_Mutation_p.R460C|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	672	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)												0.234783	55.168841	62.574559	27	88	CC		KEEP	---	---	---	---	capture		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	Missense_Mutation	SNP	2418207	2418207	12464	1	C	T	T	19	19	PLCH2	T	1	1
PLCH2	9651	broad.mit.edu	36	1	2420102	2420102	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2420102G>A	uc001aji.1	+	c.2409G>A	c.(2407-2409)GAG>GAA	p.E803E	PLCH2_uc009vle.1_Silent_p.E555E|PLCH2_uc001ajj.1_Silent_p.E591E|PLCH2_uc001ajk.1_Silent_p.E591E|PLCH2_uc001ajl.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	803	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)												0.157895	9.223469	13.467485	6	32	GG		KEEP	---	---	---	---	capture		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	Silent	SNP	2420102	2420102	12464	1	G	A	A	34	34	PLCH2	A	2	2
ZNF238	10472	broad.mit.edu	36	1	242285076	242285076	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:242285076G>A	uc001iad.2	+	c.1377G>A	c.(1375-1377)TCG>TCA	p.S459S	ZNF238_uc001iae.1_Silent_p.S450S|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 1	450	C2H2-type 3.				skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)													0.39	100.608132	101.665178	39	61	GG		KEEP	---	---	---	---	capture	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		Silent	SNP	242285076	242285076	18381	1	G	A	A	38	38	ZNF238	A	1	1
C1orf100	200159	broad.mit.edu	36	1	242594647	242594647	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:242594647G>T	uc001iah.1	+	c.22G>T	c.(22-24)GAA>TAA	p.E8*	C1orf100_uc001iai.1_Nonsense_Mutation_p.E8*	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	hypothetical protein LOC200159	8											0	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)													0.36875	150.566398	152.995198	59	101	GG		KEEP	---	---	---	---	capture	all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)		Nonsense_Mutation	SNP	242594647	242594647	2042	1	G	T	T	33	33	C1orf100	T	5	3
MYOM3	127294	broad.mit.edu	36	1	24270265	24270265	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24270265C>A	uc001bin.2	-	c.3079G>T	c.(3079-3081)GAA>TAA	p.E1027*	MYOM3_uc001bim.2_Nonsense_Mutation_p.E684*|MYOM3_uc001bio.2_Nonsense_Mutation_p.E1027*	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1027										ovary(1)	1		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)										OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.350649	65.614492	67.123724	27	50	CC		KEEP	---	---	---	---	capture		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)	Nonsense_Mutation	SNP	24270265	24270265	10488	1	C	A	A	30	30	MYOM3	A	5	3
C1orf101	257044	broad.mit.edu	36	1	242748516	242748516	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:242748516G>T	uc001iam.1	+	c.430_splice	c.e8-1	p.N144_splice	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.1_Splice_Site_SNP_p.N144_splice|C1orf101_uc001ian.1_Intron	NM_173807	NP_776168			hypothetical protein LOC257044 isoform 2							integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)													0.425926	182.4288	183.207876	69	93	GG		KEEP	---	---	---	---	capture	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		Splice_Site_SNP	SNP	242748516	242748516	2043	1	G	T	T	33	33	C1orf101	T	5	3
MYOM3	127294	broad.mit.edu	36	1	24283687	24283687	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24283687C>A	uc001bin.2	-	c.1828G>T	c.(1828-1830)GCT>TCT	p.A610S	MYOM3_uc001bim.2_Missense_Mutation_p.A267S|MYOM3_uc001bio.2_Missense_Mutation_p.A610S|MYOM3_uc001bip.1_Missense_Mutation_p.A267S	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	610	Fibronectin type-III 3.									ovary(1)	1		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)												0.391509	448.422425	452.802991	166	258	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	24283687	24283687	10488	1	C	A	A	28	28	MYOM3	A	3	3
MYOM3	127294	broad.mit.edu	36	1	24306185	24306185	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24306185G>A	uc001bin.2	-	c.367C>T	c.(367-369)CGC>TGC	p.R123C	MYOM3_uc001bio.2_Missense_Mutation_p.R123C|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	123	Potential.									ovary(1)	1		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)												0.571429	44.799021	44.923039	16	12	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	24306185	24306185	10488	1	G	A	A	38	38	MYOM3	A	1	1
HNRNPU	3192	broad.mit.edu	36	1	243087548	243087548	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:243087548G>A	uc001iaz.1	-	c.1589C>T	c.(1588-1590)ACA>ATA	p.T530I	HNRNPU_uc001iaw.1_Non-coding_Transcript|HNRNPU_uc001iax.1_Non-coding_Transcript|HNRNPU_uc001iay.1_Missense_Mutation_p.T254I|HNRNPU_uc001iba.1_Missense_Mutation_p.T511I|HNRNPU_uc001ibb.1_Missense_Mutation_p.T218I	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	530					cell killing|CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)					NSCLC(33;911 1010 3329 23631 49995)								0.4371	552.251882	553.877531	205	264	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		Missense_Mutation	SNP	243087548	243087548	7565	1	G	A	A	48	48	HNRNPU	A	2	2
HNRNPU	3192	broad.mit.edu	36	1	243088028	243088028	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:243088028G>A	uc001iaz.1	-	c.1402C>T	c.(1402-1404)CCA>TCA	p.P468S	HNRNPU_uc001iaw.1_Non-coding_Transcript|HNRNPU_uc001iax.1_Non-coding_Transcript|HNRNPU_uc001iay.1_Missense_Mutation_p.P192S|HNRNPU_uc001iba.1_Missense_Mutation_p.P449S|HNRNPU_uc001ibb.1_Missense_Mutation_p.P156S	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	468					cell killing|CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)					NSCLC(33;911 1010 3329 23631 49995)								0.181102	43.180013	55.296253	23	104	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		Missense_Mutation	SNP	243088028	243088028	7565	1	G	A	A	41	41	HNRNPU	A	2	2
HNRNPU	3192	broad.mit.edu	36	1	243092586	243092586	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:243092586C>T	uc001iaz.1	-	c.761G>A	c.(760-762)GGC>GAC	p.G254D	HNRNPU_uc001iax.1_5'Flank|HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.G235D|HNRNPU_uc001ibb.1_5'UTR	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	254					cell killing|CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)					NSCLC(33;911 1010 3329 23631 49995)								0.417647	589.898163	592.911205	213	297	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		Missense_Mutation	SNP	243092586	243092586	7565	1	C	T	T	26	26	HNRNPU	T	2	2
IL22RA1	58985	broad.mit.edu	36	1	24333418	24333418	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24333418G>A	uc001biq.1	-	c.401C>T	c.(400-402)TCG>TTG	p.S134L	IL22RA1_uc009vrb.1_5'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	134	Extracellular (Potential).					integral to membrane	interferon receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)												0.311828	73.937136	76.871516	29	64	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	Missense_Mutation	SNP	24333418	24333418	7974	1	G	A	A	37	37	IL22RA1	A	1	1
PANK4	55229	broad.mit.edu	36	1	2435366	2435366	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2435366G>A	uc001ajm.1	-	c.1510C>T	c.(1510-1512)CGC>TGC	p.R504C		NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	504					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			large_intestine(1)|ovary(1)	2	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)												0.238411	147.467456	166.340056	72	230	GG		KEEP	---	---	---	---	capture		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	Missense_Mutation	SNP	2435366	2435366	11836	1	G	A	A	38	38	PANK4	A	1	1
KIF26B	55083	broad.mit.edu	36	1	243597073	243597073	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:243597073C>T	uc001ibf.1	+	c.780C>T	c.(778-780)TTC>TTT	p.F260F		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	260					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)													0.263158	12.069401	13.031446	5	14	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.022)		Silent	SNP	243597073	243597073	8606	1	C	T	T	31	31	KIF26B	T	1	1
KIF26B	55083	broad.mit.edu	36	1	243839287	243839287	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:243839287G>A	uc001ibf.1	+	c.1748G>A	c.(1747-1749)CGC>CAC	p.R583H	KIF26B_uc001ibg.1_Missense_Mutation_p.R201H	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	583	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)													0.25	16.381473	18.203109	8	24	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.022)		Missense_Mutation	SNP	243839287	243839287	8606	1	G	A	A	38	38	KIF26B	A	1	1
KIF26B	55083	broad.mit.edu	36	1	243917142	243917142	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:243917142G>A	uc001ibf.1	+	c.4234G>A	c.(4234-4236)GCC>ACC	p.A1412T	KIF26B_uc001ibg.1_Missense_Mutation_p.A1030T|KIF26B_uc001ibh.1_Missense_Mutation_p.A654T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1412					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)													0.470588	40.591206	40.617092	16	18	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.022)		Missense_Mutation	SNP	243917142	243917142	8606	1	G	A	A	38	38	KIF26B	A	1	1
PANK4	55229	broad.mit.edu	36	1	2439493	2439493	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2439493G>A	uc001ajm.1	-	c.1188C>T	c.(1186-1188)CTC>CTT	p.L396L		NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	396					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			large_intestine(1)|ovary(1)	2	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)												0.207317	32.829425	39.341658	17	65	GG		KEEP	---	---	---	---	capture		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	Silent	SNP	2439493	2439493	11836	1	G	A	A	37	37	PANK4	A	1	1
TFB2M	64216	broad.mit.edu	36	1	244774555	244774555	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:244774555G>A	uc001ibn.1	-	c.910C>T	c.(910-912)CGT>TGT	p.R304C		NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	304					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)													0.417323	146.136037	146.897092	53	74	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		Missense_Mutation	SNP	244774555	244774555	16322	1	G	A	A	37	37	TFB2M	A	1	1
AHCTF1	25909	broad.mit.edu	36	1	245080011	245080011	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245080011G>A	uc001ibv.1	-	c.5947C>T	c.(5947-5949)CGT>TGT	p.R1983C	AHCTF1_uc009xgs.1_Missense_Mutation_p.R835C|AHCTF1_uc001ibu.1_Missense_Mutation_p.R1974C|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1974	A.T hook.|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)				Colon(145;197 1800 4745 15099 26333)								0.428144	390.570776	392.073035	143	191	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		Missense_Mutation	SNP	245080011	245080011	411	1	G	A	A	40	40	AHCTF1	A	1	1
AHCTF1	25909	broad.mit.edu	36	1	245080863	245080863	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245080863C>T	uc001ibv.1	-	c.5095G>A	c.(5095-5097)GAA>AAA	p.E1699K	AHCTF1_uc009xgs.1_Missense_Mutation_p.E551K|AHCTF1_uc001ibu.1_Missense_Mutation_p.E1690K|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1690	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)				Colon(145;197 1800 4745 15099 26333)								0.39823	252.499164	254.547655	90	136	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		Missense_Mutation	SNP	245080863	245080863	411	1	C	T	T	30	30	AHCTF1	T	2	2
AHCTF1	25909	broad.mit.edu	36	1	245081054	245081054	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245081054A>C	uc001ibv.1	-	c.4904T>G	c.(4903-4905)CTT>CGT	p.L1635R	AHCTF1_uc009xgs.1_Missense_Mutation_p.L487R|AHCTF1_uc001ibu.1_Missense_Mutation_p.L1626R|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1626	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)				Colon(145;197 1800 4745 15099 26333)								0.236593	176.358128	196.469986	75	242	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		Missense_Mutation	SNP	245081054	245081054	411	1	A	C	C	3	3	AHCTF1	C	4	4
AHCTF1	25909	broad.mit.edu	36	1	245132482	245132482	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245132482G>T	uc001ibv.1	-	c.1112C>A	c.(1111-1113)TCT>TAT	p.S371Y	AHCTF1_uc001ibu.1_Missense_Mutation_p.S362Y	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	362	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)				Colon(145;197 1800 4745 15099 26333)								0.407767	440.09334	443.186246	168	244	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		Missense_Mutation	SNP	245132482	245132482	411	1	G	T	T	33	33	AHCTF1	T	3	3
AHCTF1	25909	broad.mit.edu	36	1	245143192	245143192	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245143192T>C	uc001ibv.1	-	c.548A>G	c.(547-549)GAC>GGC	p.D183G	AHCTF1_uc001ibu.1_Missense_Mutation_p.D174G	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	174	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)				Colon(145;197 1800 4745 15099 26333)								0.215278	80.257598	91.023515	31	113	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		Missense_Mutation	SNP	245143192	245143192	411	1	T	C	C	58	58	AHCTF1	C	4	4
ZNF695	57116	broad.mit.edu	36	1	245217141	245217141	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245217141C>A	uc009xgu.1	-	c.1299G>T	c.(1297-1299)GAG>GAT	p.E433D	ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron|ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	433					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)												0.150685	29.950244	47.033038	22	124	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		Missense_Mutation	SNP	245217141	245217141	18693	1	C	A	A	32	32	ZNF695	A	3	3
ZNF670	93474	broad.mit.edu	36	1	245267414	245267414	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245267414G>A	uc001icd.1	-	c.1130C>T	c.(1129-1131)TCC>TTC	p.S377F	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	377	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)												0.192913	97.932701	120.295209	49	205	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		Missense_Mutation	SNP	245267414	245267414	18672	1	G	A	A	41	41	ZNF670	A	2	2
ZNF670	93474	broad.mit.edu	36	1	245268267	245268267	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245268267T>C	uc001icd.1	-	c.277A>G	c.(277-279)AAT>GAT	p.N93D	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)												0.211726	177.31774	200.893373	65	242	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		Missense_Mutation	SNP	245268267	245268267	18672	1	T	C	C	62	62	ZNF670	C	4	4
GRHL3	57822	broad.mit.edu	36	1	24535637	24535637	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24535637G>T	uc001biy.1	+	c.360G>T	c.(358-360)GAG>GAT	p.E120D	GRHL3_uc001bix.1_Missense_Mutation_p.E115D|GRHL3_uc001biz.1_Missense_Mutation_p.E22D	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	115					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)												0.450331	366.727005	367.380381	136	166	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	Missense_Mutation	SNP	24535637	24535637	7043	1	G	T	T	33	33	GRHL3	T	3	3
ZNF124	7678	broad.mit.edu	36	1	245386934	245386934	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245386934G>A	uc001ick.2	-	c.613C>T	c.(613-615)CCC>TCC	p.P205S	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.P143S	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	205					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)													0.12987	33.383031	64.197897	30	201	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		Missense_Mutation	SNP	245386934	245386934	18311	1	G	A	A	44	44	ZNF124	A	2	2
GRHL3	57822	broad.mit.edu	36	1	24546587	24546587	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24546587C>T	uc001biy.1	+	c.1601C>T	c.(1600-1602)GCG>GTG	p.A534V	GRHL3_uc001bix.1_Missense_Mutation_p.A529V|GRHL3_uc001biz.1_Missense_Mutation_p.A436V	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	529					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)												0.428571	335.668249	336.946084	123	164	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	Missense_Mutation	SNP	24546587	24546587	7043	1	C	T	T	27	27	GRHL3	T	1	1
ZNF496	84838	broad.mit.edu	36	1	245540378	245540378	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245540378G>A	uc009xgv.1	-	c.763C>T	c.(763-765)CGG>TGG	p.R255W	ZNF496_uc001ico.1_Missense_Mutation_p.R219W|ZNF496_uc001icp.1_Missense_Mutation_p.R219W|ZNF496_uc001icq.1_5'UTR	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	219					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)													0.234483	74.472016	83.830374	34	111	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		Missense_Mutation	SNP	245540378	245540378	18539	1	G	A	A	37	37	ZNF496	A	1	1
NLRP3	114548	broad.mit.edu	36	1	245659645	245659645	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245659645G>A	uc001icr.1	+	c.2292G>A	c.(2290-2292)ACG>ACA	p.T764T	NLRP3_uc001ics.1_Silent_p.T764T|NLRP3_uc001icu.1_Silent_p.T764T|NLRP3_uc001icw.1_Intron|NLRP3_uc001icv.1_Intron	NM_001079821	NP_004886	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	764					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			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	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)								412				0.172619	44.402782	61.40143	29	139	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		Silent	SNP	245659645	245659645	10881	1	G	A	A	38	38	NLRP3	A	1	1
OR2B11	127623	broad.mit.edu	36	1	245681428	245681428	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245681428G>T	uc001icy.1	-	c.480C>A	c.(478-480)TCC>TCA	p.S160S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)												0.5	130.07142	130.07142	48	48	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		Silent	SNP	245681428	245681428	11394	1	G	T	T	35	35	OR2B11	T	3	3
OR2C3	81472	broad.mit.edu	36	1	245762321	245762321	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245762321G>A	uc009xgy.1	-	c.116C>T	c.(115-117)TCG>TTG	p.S39L	C1orf150_uc009xgw.1_Intron|C1orf150_uc001ida.2_Intron|C1orf150_uc001idb.2_Intron|C1orf150_uc009xgx.1_Intron|OR2C3_uc001idd.1_5'Flank|OR2C3_uc009xgz.1_Missense_Mutation_p.S38L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)												0.217778	105.553944	122.07696	49	176	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		Missense_Mutation	SNP	245762321	245762321	11399	1	G	A	A	37	37	OR2C3	A	1	1
C1orf150	148823	broad.mit.edu	36	1	245804169	245804169	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245804169G>T	uc001idf.1	+	c.270G>T	c.(268-270)GAG>GAT	p.E90D	C1orf150_uc009xgw.1_Non-coding_Transcript|C1orf150_uc001ida.2_Non-coding_Transcript|C1orf150_uc001idb.2_Non-coding_Transcript|C1orf150_uc009xgx.1_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	90											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)													0.243243	94.566664	105.69956	45	140	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		Missense_Mutation	SNP	245804169	245804169	2071	1	G	T	T	33	33	C1orf150	T	3	3
OR2G2	81470	broad.mit.edu	36	1	245818802	245818802	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245818802G>T	uc001idg.1	+	c.518G>T	c.(517-519)GGG>GTG	p.G173V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	173	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)													0.427245	378.756078	380.254161	138	185	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.017)		Missense_Mutation	SNP	245818802	245818802	11404	1	G	T	T	43	43	OR2G2	T	3	3
OR2G3	81469	broad.mit.edu	36	1	245836230	245836230	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245836230C>T	uc001idh.1	+	c.720C>T	c.(718-720)ACC>ACT	p.T240T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)													0.206897	57.032099	66.269802	24	92	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.017)		Silent	SNP	245836230	245836230	11405	1	C	T	T	24	24	OR2G3	T	2	2
OR13G1	441933	broad.mit.edu	36	1	245902749	245902749	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245902749C>A	uc001idi.1	-	c.218G>T	c.(217-219)AGC>ATC	p.S73I		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	73	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)													0.4125	92.563088	93.096845	33	47	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.017)		Missense_Mutation	SNP	245902749	245902749	11348	1	C	A	A	28	28	OR13G1	A	3	3
OR14A16	284532	broad.mit.edu	36	1	246045415	246045415	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246045415G>A	uc001idm.1	-	c.240C>T	c.(238-240)ATC>ATT	p.I80I		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Ovarian(112;180 1586 15073 21914 33526)								0.411348	157.721352	158.689292	58	83	GG		KEEP	---	---	---	---	capture			Silent	SNP	246045415	246045415	11351	1	G	A	A	37	37	OR14A16	A	1	1
OR11L1	391189	broad.mit.edu	36	1	246071486	246071486	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246071486G>T	uc001idn.1	-	c.336C>A	c.(334-336)TGC>TGA	p.C112*		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)													0.235294	17.586412	19.763199	8	26	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		Nonsense_Mutation	SNP	246071486	246071486	11336	1	G	T	T	34	34	OR11L1	T	5	3
TRIM58	25893	broad.mit.edu	36	1	246106303	246106303	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246106303C>A	uc001ido.1	+	c.1350C>A	c.(1348-1350)ATC>ATA	p.I450I	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	450	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4	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)												0.191489	131.447468	164.923023	72	304	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		Silent	SNP	246106303	246106303	17077	1	C	A	A	32	32	TRIM58	A	3	3
OR2W3	343171	broad.mit.edu	36	1	246125570	246125570	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246125570G>A	uc001idp.1	+	c.59G>A	c.(58-60)CGA>CAA	p.R20Q	OR2W3_uc001idq.2_Missense_Mutation_p.R20Q	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20Q(1)		ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)													0.474654	286.961126	287.076503	103	114	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		Missense_Mutation	SNP	246125570	246125570	11439	1	G	A	A	37	37	OR2W3	A	1	1
OR2W3	343171	broad.mit.edu	36	1	246126196	246126196	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246126196C>T	uc001idp.1	+	c.685C>T	c.(685-687)CGG>TGG	p.R229W	OR2W3_uc001idq.2_Missense_Mutation_p.R229W	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)													0.235443	203.388247	228.67026	93	302	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		Missense_Mutation	SNP	246126196	246126196	11439	1	C	T	T	31	31	OR2W3	T	1	1
OR2M5	127059	broad.mit.edu	36	1	246375551	246375551	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246375551C>T	uc001idz.1	+	c.479C>T	c.(478-480)GCT>GTT	p.A160V		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	160	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	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)													0.448175	886.174402	887.782606	307	378	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		Missense_Mutation	SNP	246375551	246375551	11419	1	C	T	T	28	28	OR2M5	T	2	2
NIPAL3	57185	broad.mit.edu	36	1	24648663	24648663	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24648663T>G	uc001bjh.1	+	c.500T>G	c.(499-501)GTC>GGC	p.V167G	NIPAL3_uc001bjg.1_Missense_Mutation_p.V167G|NIPAL3_uc009vrc.1_Missense_Mutation_p.V85G	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	167						integral to membrane					0														0.210145	66.204199	76.935249	29	109	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24648663	24648663	10827	1	T	G	G	58	58	NIPAL3	G	4	4
OR2T12	127064	broad.mit.edu	36	1	246524802	246524802	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246524802C>A	uc001iee.1	-	c.702G>T	c.(700-702)AAG>AAT	p.K234N		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(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)													0.223881	94.20921	108.271735	45	156	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		Missense_Mutation	SNP	246524802	246524802	11425	1	C	A	A	24	24	OR2T12	A	3	3
OR2M7	391196	broad.mit.edu	36	1	246554206	246554206	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246554206G>A	uc001ief.1	-	c.288C>T	c.(286-288)GGC>GGT	p.G96G		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)													0.392111	495.636082	500.005747	169	262	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		Silent	SNP	246554206	246554206	11420	1	G	A	A	34	34	OR2M7	A	2	2
OR2G6	391211	broad.mit.edu	36	1	246752156	246752156	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246752156G>A	uc001ien.1	+	c.586G>A	c.(586-588)GAG>AAG	p.E196K		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(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)	all_cancers(173;0.0156)												0.234637	91.468862	102.995962	42	137	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		Missense_Mutation	SNP	246752156	246752156	11406	1	G	A	A	37	37	OR2G6	A	1	1
SH3BP5L	80851	broad.mit.edu	36	1	247085655	247085655	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:247085655C>A	uc001iew.1	-	c.103G>T	c.(103-105)GAG>TAG	p.E35*	SH3BP5L_uc001iev.1_5'UTR	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	35											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)												0.191781	119.695099	152.144579	70	295	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		Nonsense_Mutation	SNP	247085655	247085655	14739	1	C	A	A	32	32	SH3BP5L	A	5	3
ZNF672	79894	broad.mit.edu	36	1	247109029	247109029	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:247109029C>T	uc001iex.1	+	c.933C>T	c.(931-933)TTC>TTT	p.F311F	ZNF672_uc001iey.2_Silent_p.F311F	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	311	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)												0.368421	17.918089	18.207931	7	12	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		Silent	SNP	247109029	247109029	18674	1	C	T	T	31	31	ZNF672	T	1	1
RCAN3	11123	broad.mit.edu	36	1	24713453	24713453	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24713453C>T	uc001bjj.1	+	c.4C>T	c.(4-6)CTG>TTG	p.L2L	RCAN3_uc009vrd.1_Silent_p.L2L|RCAN3_uc009vre.1_Silent_p.L2L|RCAN3_uc009vrf.1_Silent_p.L2L|RCAN3_uc009vrg.1_Silent_p.L2L	NM_013441	NP_038469	Q9UKA8	RCAN3_HUMAN	Down syndrome critical region gene 1-like 2	2					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)												0.266667	82.429174	89.076178	36	99	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	Silent	SNP	24713453	24713453	13639	1	C	T	T	28	28	RCAN3	T	2	2
TNFRSF14	8764	broad.mit.edu	36	1	2483055	2483055	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2483055C>T	uc001ajr.1	-	c.406G>A	c.(406-408)GCC>ACC	p.A136T	TNFRSF14_uc001ajs.1_Missense_Mutation_p.A136T|TNFRSF14_uc001ajt.1_Silent_p.A305A|TNFRSF14_uc009vlf.1_Missense_Mutation_p.A136T	NM_003820	NP_003811	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily,	136	TNFR-Cys 3.|Extracellular (Potential).				immune response|interspecies interaction between organisms|T cell costimulation	integral to plasma membrane	tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)												0.52381	30.057139	30.07068	11	10	CC		KEEP	---	---	---	---	capture		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	Missense_Mutation	SNP	2483055	2483055	16830	1	C	T	T	27	27	TNFRSF14	T	1	1
SRRM1	10250	broad.mit.edu	36	1	24845074	24845074	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24845074G>T	uc001bjm.1	+	c.34G>T	c.(34-36)GAA>TAA	p.E12*	SRRM1_uc009vrh.1_5'UTR|SRRM1_uc009vri.1_5'Flank	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	12	Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|Necessary for DNA and RNA-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)				Ovarian(68;897 1494 3282 17478)								0.159483	54.616385	80.260246	37	195	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	Nonsense_Mutation	SNP	24845074	24845074	15682	1	G	T	T	33	33	SRRM1	T	5	3
SRRM1	10250	broad.mit.edu	36	1	24859804	24859804	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24859804A>G	uc001bjm.1	+	c.1323A>G	c.(1321-1323)AAA>AAG	p.K441K	SRRM1_uc009vrh.1_Silent_p.K400K|SRRM1_uc009vri.1_Silent_p.K356K	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	441	Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)				Ovarian(68;897 1494 3282 17478)								0.442478	349.484467	350.133814	100	126	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	Silent	SNP	24859804	24859804	15682	1	A	G	G	2	2	SRRM1	G	4	4
RUNX3	864	broad.mit.edu	36	1	25106427	25106427	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:25106427G>A	uc009vrj.1	-	c.655C>T	c.(655-657)CGC>TGC	p.R219C	RUNX3_uc001bjq.1_Missense_Mutation_p.R205C|RUNX3_uc001bjr.1_Missense_Mutation_p.R219C	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 1	205	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)												0.139535	13.378328	24.150739	12	74	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	Missense_Mutation	SNP	25106427	25106427	14229	1	G	A	A	38	38	RUNX3	A	1	1
C1orf93	127281	broad.mit.edu	36	1	2510716	2510716	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2510716G>T	uc001ajv.1	+	c.641G>T	c.(640-642)AGA>ATA	p.R214I	C1orf93_uc001aju.1_Missense_Mutation_p.R196I|C1orf93_uc001ajw.1_3'UTR|C1orf93_uc001ajx.1_Nonsense_Mutation_p.E69*	NM_152371	NP_689584	Q8TBF2	PGFS_HUMAN	hypothetical protein LOC127281	196					oxidation-reduction process|prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			central_nervous_system(1)	1	all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)												0.112903	9.351089	27.709638	14	110	GG		KEEP	---	---	---	---	capture		Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	Missense_Mutation	SNP	2510716	2510716	2146	1	G	T	T	33	33	C1orf93	T	3	3
MMEL1	79258	broad.mit.edu	36	1	2516091	2516091	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2516091A>G	uc001ajy.1	-	c.1659T>C	c.(1657-1659)AAT>AAC	p.N553N	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	562	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)												0.22449	88.238044	98.466335	33	114	AA		KEEP	---	---	---	---	capture		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	Silent	SNP	2516091	2516091	10036	1	A	G	G	12	12	MMEL1	G	4	4
MMEL1	79258	broad.mit.edu	36	1	2526872	2526872	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2526872G>A	uc001ajy.1	-	c.774C>T	c.(772-774)GGC>GGT	p.G258G	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	267	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)												0.507463	189.788116	189.794463	68	66	GG		KEEP	---	---	---	---	capture		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	Silent	SNP	2526872	2526872	10036	1	G	A	A	38	38	MMEL1	A	1	1
RHD	6007	broad.mit.edu	36	1	25471642	25471642	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:25471642C>T	uc001bkb.1	+	c.17C>T	c.(16-18)CCG>CTG	p.P6L	RHD_uc001bjz.1_Missense_Mutation_p.P6L|RHD_uc001bkc.1_Missense_Mutation_p.P6L|RHD_uc009vrm.1_5'UTR|RHD_uc001bka.1_Missense_Mutation_p.P6L|RHD_uc009vrn.1_Missense_Mutation_p.P6L|RHD_uc009vro.1_Missense_Mutation_p.P6L|RHD_uc009vrp.1_Missense_Mutation_p.P6L	NM_001127691	NP_001121163	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 2	6						integral to plasma membrane	ammonium transmembrane transporter activity			breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)												0.471698	76.062436	76.099912	25	28	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	Missense_Mutation	SNP	25471642	25471642	13802	1	C	T	T	23	23	RHD	T	1	1
RHCE	6006	broad.mit.edu	36	1	25619848	25619848	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:25619848G>A	uc001bkf.1	-	c.17C>T	c.(16-18)CCG>CTG	p.P6L	RHCE_uc001bkg.1_Missense_Mutation_p.P6L|RHCE_uc001bkh.1_Missense_Mutation_p.P6L|RHCE_uc001bki.1_Missense_Mutation_p.P6L|RHCE_uc001bkj.1_Intron	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	6						integral to plasma membrane	ammonium transmembrane transporter activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)												0.142857	7.181028	10.62234	4	24	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	25619848	25619848	13800	1	G	A	A	39	39	RHCE	A	1	1
TMEM57	55219	broad.mit.edu	36	1	25653411	25653411	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:25653411G>T	uc001bkk.1	+	c.424G>T	c.(424-426)GAT>TAT	p.D142Y	TMEM57_uc009vru.1_Missense_Mutation_p.D142Y|TMEM57_uc009vrv.1_Intron|TMEM57_uc009vrt.1_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	142						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)												0.210256	77.445961	92.617782	41	154	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	25653411	25653411	16723	1	G	T	T	33	33	TMEM57	T	3	3
TMEM57	55219	broad.mit.edu	36	1	25655788	25655788	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:25655788A>C	uc001bkk.1	+	c.531A>C	c.(529-531)AAA>AAC	p.K177N	TMEM57_uc009vru.1_Intron|TMEM57_uc009vrv.1_Intron|TMEM57_uc009vrt.1_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	177						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)												0.201613	66.0108	76.264059	25	99	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	25655788	25655788	16723	1	A	C	C	1	1	TMEM57	C	4	4
LDLRAP1	26119	broad.mit.edu	36	1	25753116	25753116	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:25753116G>A	uc001bkl.2	+	c.205G>A	c.(205-207)GCC>ACC	p.A69T		NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	69	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)												0.449438	106.280528	106.479499	40	49	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	25753116	25753116	9032	1	G	A	A	38	38	LDLRAP1	A	1	1
MAN1C1	57134	broad.mit.edu	36	1	25945781	25945781	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:25945781G>A	uc001bkm.2	+	c.673G>A	c.(673-675)GAT>AAT	p.D225N	MAN1C1_uc009vry.1_Missense_Mutation_p.D45N	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	225	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)												0.253333	43.493151	47.634131	19	56	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	Missense_Mutation	SNP	25945781	25945781	9596	1	G	A	A	37	37	MAN1C1	A	1	1
C1orf135	79000	broad.mit.edu	36	1	26034544	26034544	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26034544G>A	uc001bkw.1	-	c.601C>T	c.(601-603)CTT>TTT	p.L201F		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	hypothetical protein LOC79000	201											0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)												0.197368	255.621529	307.517174	120	488	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	26034544	26034544	2066	1	G	A	A	34	34	C1orf135	A	2	2
STMN1	3925	broad.mit.edu	36	1	26102823	26102823	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26102823A>G	uc001bkz.1	-	c.82T>C	c.(82-84)TCA>CCA	p.S28P	STMN1_uc001bla.1_Missense_Mutation_p.S28P|STMN1_uc001blb.1_Missense_Mutation_p.S28P|STMN1_uc001blc.1_Missense_Mutation_p.S28P	NM_203401	NP_981946	P16949	STMN1_HUMAN	stathmin 1 isoform a	28					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)												0.388889	290.286929	292.812621	91	143	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	26102823	26102823	15828	1	A	G	G	10	10	STMN1	G	4	4
PAFAH2	5051	broad.mit.edu	36	1	26175811	26175811	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26175811G>T	uc001bld.2	-	c.707C>A	c.(706-708)TCA>TAA	p.S236*	PAFAH2_uc001ble.2_Nonsense_Mutation_p.S236*	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	236		Nucleophile (By similarity).			lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)												0.328125	51.343593	53.025049	21	43	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|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;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	Nonsense_Mutation	SNP	26175811	26175811	11803	1	G	T	T	45	45	PAFAH2	T	5	3
PAFAH2	5051	broad.mit.edu	36	1	26183035	26183035	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26183035G>A	uc001bld.2	-	c.541C>T	c.(541-543)CGG>TGG	p.R181W	PAFAH2_uc001ble.2_Missense_Mutation_p.R181W	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	181					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)												0.466463	434.033808	434.355166	153	175	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|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;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	26183035	26183035	11803	1	G	A	A	37	37	PAFAH2	A	1	1
EXTL1	2134	broad.mit.edu	36	1	26221757	26221757	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26221757G>A	uc001blf.1	+	c.33G>A	c.(31-33)TGG>TGA	p.W11*		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses (multiple)-like 1	11	Helical; Signal-anchor for type II membrane protein; (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)												0.390244	129.574257	130.870849	48	75	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	Nonsense_Mutation	SNP	26221757	26221757	5519	1	G	A	A	42	42	EXTL1	A	5	2
PDIK1L	149420	broad.mit.edu	36	1	26313635	26313635	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26313635G>T	uc001blj.2	+	c.249G>T	c.(247-249)AAG>AAT	p.K83N	PDIK1L_uc009vsb.1_Missense_Mutation_p.K83N	NM_152835	NP_690048	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	83	Protein kinase.				protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity				0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)								46				0.25	54.487436	60.407283	26	78	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	26313635	26313635	12094	1	G	T	T	33	33	PDIK1L	T	3	3
PDIK1L	149420	broad.mit.edu	36	1	26321005	26321005	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26321005G>T	uc001blj.2	+	c.376G>T	c.(376-378)GAT>TAT	p.D126Y	PDIK1L_uc009vsb.1_Missense_Mutation_p.D126Y	NM_152835	NP_690048	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	126	Protein kinase.				protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity				0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)								46				0.240143	137.564435	154.781915	67	212	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	26321005	26321005	12094	1	G	T	T	33	33	PDIK1L	T	3	3
CNKSR1	10256	broad.mit.edu	36	1	26384203	26384203	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26384203G>A	uc001bln.2	+	c.1268G>A	c.(1267-1269)CGC>CAC	p.R423H	CNKSR1_uc001blm.2_Missense_Mutation_p.R416H|CNKSR1_uc009vsd.1_Missense_Mutation_p.R158H|CNKSR1_uc009vse.1_Missense_Mutation_p.R158H|CNKSR1_uc001blo.1_Missense_Mutation_p.R158H	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	423	PH.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			kidney(1)	1		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)				NSCLC(180;1396 2109 28270 30756 34275)								0.363636	8.195368	8.375741	4	7	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	26384203	26384203	3744	1	G	A	A	38	38	CNKSR1	A	1	1
CCDC21	64793	broad.mit.edu	36	1	26454911	26454911	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26454911G>A	uc001bls.1	+	c.871G>A	c.(871-873)GAA>AAA	p.E291K	CCDC21_uc001blr.2_Missense_Mutation_p.E291K	NM_022778	NP_073615	Q6P2H3	CCD21_HUMAN	coiled-coil domain containing 21	291											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)												0.232143	86.129455	97.178031	39	129	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	26454911	26454911	2918	1	G	A	A	41	41	CCDC21	A	2	2
CCDC21	64793	broad.mit.edu	36	1	26457266	26457266	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26457266C>T	uc001bls.1	+	c.1083C>T	c.(1081-1083)AGC>AGT	p.S361S	CCDC21_uc001blr.2_Silent_p.S361S	NM_022778	NP_073615	Q6P2H3	CCD21_HUMAN	coiled-coil domain containing 21	361	Potential.										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)												0.253807	109.704412	120.514809	50	147	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	26457266	26457266	2918	1	C	T	T	27	27	CCDC21	T	1	1
CCDC21	64793	broad.mit.edu	36	1	26471136	26471136	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26471136G>A	uc001bls.1	+	c.1781G>A	c.(1780-1782)CGC>CAC	p.R594H	CCDC21_uc001blr.2_Missense_Mutation_p.R594H|CCDC21_uc001blt.1_Missense_Mutation_p.R26H	NM_022778	NP_073615	Q6P2H3	CCD21_HUMAN	coiled-coil domain containing 21	594	Potential.										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)												0.283019	35.502273	37.744228	15	38	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	26471136	26471136	2918	1	G	A	A	38	38	CCDC21	A	1	1
UBXN11	91544	broad.mit.edu	36	1	26481749	26481749	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26481749G>A	uc001blw.1	-	c.1270C>T	c.(1270-1272)CGA>TGA	p.R424*	UBXN11_uc001blv.1_Nonsense_Mutation_p.R386*|UBXN11_uc001blx.1_Nonsense_Mutation_p.R182*|UBXN11_uc001bly.1_Nonsense_Mutation_p.R304*|UBXN11_uc001blz.1_Nonsense_Mutation_p.R391*|UBXN11_uc001bma.1_Nonsense_Mutation_p.R391*|UBXN11_uc001bmb.1_Nonsense_Mutation_p.R424*	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	424	UBX.					cytoplasm|cytoskeleton				ovary(1)	1														0.443114	204.025842	204.496256	74	93	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	26481749	26481749	17471	1	G	A	A	38	38	UBXN11	A	5	1
UBXN11	91544	broad.mit.edu	36	1	26483479	26483479	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26483479G>A	uc001blw.1	-	c.934C>T	c.(934-936)CTG>TTG	p.L312L	UBXN11_uc001blv.1_Silent_p.L274L|UBXN11_uc001blx.1_Silent_p.L70L|UBXN11_uc001bly.1_Silent_p.L192L|UBXN11_uc001blz.1_Silent_p.L279L|UBXN11_uc001bma.1_Silent_p.L279L|UBXN11_uc001bmb.1_Silent_p.L312L	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	312						cytoplasm|cytoskeleton				ovary(1)	1														0.431193	124.00129	124.451511	47	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	26483479	26483479	17471	1	G	A	A	34	34	UBXN11	A	2	2
UBXN11	91544	broad.mit.edu	36	1	26484940	26484940	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26484940G>A	uc001blw.1	-	c.735C>T	c.(733-735)TTC>TTT	p.F245F	UBXN11_uc001blv.1_Silent_p.F207F|UBXN11_uc001blx.1_Silent_p.F3F|UBXN11_uc001bly.1_Silent_p.F125F|UBXN11_uc001blz.1_Silent_p.F212F|UBXN11_uc001bma.1_Silent_p.F212F|UBXN11_uc001bmb.1_Silent_p.F245F	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	245	SEP.					cytoplasm|cytoskeleton				ovary(1)	1												OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.177083	29.415623	38.854466	17	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	26484940	26484940	17471	1	G	A	A	37	37	UBXN11	A	1	1
AIM1L	55057	broad.mit.edu	36	1	26535764	26535764	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26535764G>A	uc001bmd.2	-	c.823C>T	c.(823-825)CTG>TTG	p.L275L	AIM1L_uc001bmf.2_Silent_p.L166L	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	275	Beta/gamma crystallin 'Greek key' 6.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)												0.545455	18.149895	18.169555	6	5	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	Silent	SNP	26535764	26535764	434	1	G	A	A	34	34	AIM1L	A	2	2
RPS6KA1	6195	broad.mit.edu	36	1	26757970	26757970	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26757970C>T	uc001bms.1	+	c.1197C>T	c.(1195-1197)GAC>GAT	p.D399D	RPS6KA1_uc001bmr.1_Silent_p.D390D|RPS6KA1_uc009vsl.1_Silent_p.D233D	NM_001006665	NP_001006666	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	390	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of caspase activity|nerve growth factor receptor signaling pathway|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								655				0.34507	116.209443	119.229321	49	93	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	Silent	SNP	26757970	26757970	14130	1	C	T	T	19	19	RPS6KA1	T	1	1
RPS6KA1	6195	broad.mit.edu	36	1	26760176	26760176	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26760176G>A	uc001bms.1	+	c.1422G>A	c.(1420-1422)CGG>CGA	p.R474R	RPS6KA1_uc001bmr.1_Silent_p.R465R|RPS6KA1_uc009vsl.1_Silent_p.R308R	NM_001006665	NP_001006666	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	465	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of caspase activity|nerve growth factor receptor signaling pathway|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								655				0.238095	57.020502	63.601741	25	80	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	Silent	SNP	26760176	26760176	14130	1	G	A	A	44	44	RPS6KA1	A	2	2
ARID1A	8289	broad.mit.edu	36	1	26966897	26966897	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26966897G>A	uc001bmv.1	+	c.3018G>A	c.(3016-3018)GAG>GAA	p.E1006E	ARID1A_uc001bmt.1_Silent_p.E1006E|ARID1A_uc001bmu.1_Silent_p.E1006E|ARID1A_uc001bmw.1_Silent_p.E623E	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1006					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding|transcription activator activity			ovary(124)|endometrium(3)|kidney(3)|central_nervous_system(2)|pancreas(2)|lung(1)|skin(1)	136		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								478				0.49711	272.942523	272.943823	86	87	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	Silent	SNP	26966897	26966897	928	1	G	A	A	33	33	ARID1A	A	2	2
ARID1A	8289	broad.mit.edu	36	1	26966989	26966989	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26966989G>A	uc001bmv.1	+	c.3110G>A	c.(3109-3111)GGC>GAC	p.G1037D	ARID1A_uc001bmt.1_Missense_Mutation_p.G1037D|ARID1A_uc001bmu.1_Missense_Mutation_p.G1037D|ARID1A_uc001bmw.1_Missense_Mutation_p.G654D	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1037	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding|transcription activator activity			ovary(124)|endometrium(3)|kidney(3)|central_nervous_system(2)|pancreas(2)|lung(1)|skin(1)	136		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								478				0.446809	417.487847	418.296507	147	182	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	Missense_Mutation	SNP	26966989	26966989	928	1	G	A	A	42	42	ARID1A	A	2	2
ARID1A	8289	broad.mit.edu	36	1	26972060	26972060	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26972060G>T	uc001bmv.1	+	c.3710G>T	c.(3709-3711)AGG>ATG	p.R1237M	ARID1A_uc001bmt.1_Missense_Mutation_p.R1236M|ARID1A_uc001bmu.1_Missense_Mutation_p.R1237M|ARID1A_uc001bmw.1_Missense_Mutation_p.R854M|ARID1A_uc001bmx.1_Missense_Mutation_p.R83M|ARID1A_uc009vsm.1_De_novo_Start_OutOfFrame|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1237					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding|transcription activator activity			ovary(124)|endometrium(3)|kidney(3)|central_nervous_system(2)|pancreas(2)|lung(1)|skin(1)	136		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								478				0.30303	73.29464	76.734395	30	69	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	Missense_Mutation	SNP	26972060	26972060	928	1	G	T	T	35	35	ARID1A	T	3	3
ARID1A	8289	broad.mit.edu	36	1	26978937	26978937	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26978937C>A	uc001bmv.1	+	c.5961C>A	c.(5959-5961)ACC>ACA	p.T1987T	ARID1A_uc001bmu.1_Silent_p.T1770T|ARID1A_uc001bmx.1_Silent_p.T833T|ARID1A_uc009vsm.1_Silent_p.T315T|ARID1A_uc009vsn.1_Silent_p.T229T	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1987					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding|transcription activator activity			ovary(124)|endometrium(3)|kidney(3)|central_nervous_system(2)|pancreas(2)|lung(1)|skin(1)	136		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								478				0.420792	230.922837	232.032336	85	117	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	Silent	SNP	26978937	26978937	928	1	C	A	A	21	21	ARID1A	A	3	3
PIGV	55650	broad.mit.edu	36	1	26993325	26993325	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26993325C>A	uc001bmz.1	+	c.213C>A	c.(211-213)TTC>TTA	p.F71L	PIGV_uc001bmy.1_Intron|PIGV_uc009vso.1_Missense_Mutation_p.F71L|PIGV_uc001bna.1_Missense_Mutation_p.F71L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	71	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)												0.465753	182.967416	183.118042	68	78	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	Missense_Mutation	SNP	26993325	26993325	12325	1	C	A	A	32	32	PIGV	A	3	3
PIGV	55650	broad.mit.edu	36	1	26993678	26993678	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26993678T>C	uc001bmz.1	+	c.566T>C	c.(565-567)GTC>GCC	p.V189A	PIGV_uc001bmy.1_Intron|PIGV_uc009vso.1_Missense_Mutation_p.V189A|PIGV_uc001bna.1_Missense_Mutation_p.V189A	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	189	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)												0.462025	240.371439	240.568122	73	85	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	Missense_Mutation	SNP	26993678	26993678	12325	1	T	C	C	58	58	PIGV	C	4	4
ZDHHC18	84243	broad.mit.edu	36	1	27051850	27051850	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27051850G>T	uc001bnb.1	+	c.956G>T	c.(955-957)AGC>ATC	p.S319I		NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	319						integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)										OREG0013274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.180723	48.432614	64.383231	30	136	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)	Missense_Mutation	SNP	27051850	27051850	18196	1	G	T	T	34	34	ZDHHC18	T	3	3
SFN	2810	broad.mit.edu	36	1	27062887	27062887	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27062887C>T	uc001bnc.1	+	c.597C>T	c.(595-597)GAC>GAT	p.D199D		NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	199					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)												0.405405	282.609492	284.638438	105	154	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	Silent	SNP	27062887	27062887	14648	1	C	T	T	19	19	SFN	T	1	1
GPN2	54707	broad.mit.edu	36	1	27089142	27089142	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27089142C>A	uc001bnd.1	-	c.33G>T	c.(31-33)GGG>GGT	p.G11G		NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	ATP binding domain 1 family, member B	11							GTP binding				0														0.411765	17.715517	17.832462	7	10	CC		KEEP	---	---	---	---	capture			Silent	SNP	27089142	27089142	6892	1	C	A	A	26	26	GPN2	A	3	3
GPATCH3	63906	broad.mit.edu	36	1	27093340	27093340	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27093340G>A	uc001bne.1	-	c.1025C>T	c.(1024-1026)GCC>GTC	p.A342V	GPATCH3_uc009vsp.1_Missense_Mutation_p.A153V	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	342						intracellular	nucleic acid binding				0		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)												0.183871	111.711003	140.768524	57	253	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	Missense_Mutation	SNP	27093340	27093340	6866	1	G	A	A	42	42	GPATCH3	A	2	2
C1orf172	126695	broad.mit.edu	36	1	27151023	27151023	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27151023G>A	uc001bni.1	-	c.436C>T	c.(436-438)CGG>TGG	p.R146W		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	146										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)												0.25641	40.889422	45.072603	20	58	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	27151023	27151023	2080	1	G	A	A	38	38	C1orf172	A	1	1
SLC9A1	6548	broad.mit.edu	36	1	27300835	27300835	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27300835G>A	uc001bnm.1	-	c.2005C>T	c.(2005-2007)CGG>TGG	p.R669W	SLC9A1_uc009vss.1_5'Flank|SLC9A1_uc001bnl.1_Missense_Mutation_p.R173W	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	669	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2					Amiloride(DB00594)									0.186047	15.050902	18.965551	8	35	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Missense_Mutation	SNP	27300835	27300835	15206	1	G	A	A	39	39	SLC9A1	A	1	1
SLC9A1	6548	broad.mit.edu	36	1	27353130	27353130	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27353130C>T	uc001bnm.1	-	c.283G>A	c.(283-285)GAC>AAC	p.D95N	SLC9A1_uc001bnn.1_Missense_Mutation_p.D95N	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	95	Extracellular (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2					Amiloride(DB00594)									0.480469	347.690941	347.776349	123	133	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Missense_Mutation	SNP	27353130	27353130	15206	1	C	T	T	31	31	SLC9A1	T	1	1
SYTL1	84958	broad.mit.edu	36	1	27549562	27549562	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27549562G>A	uc001bnw.1	+	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	SYTL1_uc001bnv.1_Missense_Mutation_p.R323Q|SYTL1_uc009vsu.1_Missense_Mutation_p.R323Q|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.1_Missense_Mutation_p.R335Q	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	335	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			ovary(1)	1		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)												0.490385	163.627978	163.636124	51	53	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	Missense_Mutation	SNP	27549562	27549562	16003	1	G	A	A	39	39	SYTL1	A	1	1
MAP3K6	9064	broad.mit.edu	36	1	27556624	27556624	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27556624C>A	uc001bny.1	-	c.3112G>T	c.(3112-3114)GAG>TAG	p.E1038*	MAP3K6_uc009vsw.1_Nonsense_Mutation_p.E1030*	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	1038					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								422		OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.233577	65.41923	74.330845	32	105	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	Nonsense_Mutation	SNP	27556624	27556624	9637	1	C	A	A	32	32	MAP3K6	A	5	3
MAP3K6	9064	broad.mit.edu	36	1	27556900	27556900	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27556900C>T	uc001bny.1	-	c.2970G>A	c.(2968-2970)GGG>GGA	p.G990G	MAP3K6_uc009vsw.1_Silent_p.G982G	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	990					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								422		OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.533333	42.672509	42.699778	16	14	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	Silent	SNP	27556900	27556900	9637	1	C	T	T	26	26	MAP3K6	T	2	2
MAP3K6	9064	broad.mit.edu	36	1	27560654	27560654	+	Missense_Mutation	SNP	G	A	A	rs55671988	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27560654G>A	uc001bny.1	-	c.1630C>T	c.(1630-1632)CGG>TGG	p.R544W	MAP3K6_uc009vsw.1_Missense_Mutation_p.R536W|MAP3K6_uc001bnz.1_Missense_Mutation_p.R67W	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	544					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								422				0.394904	164.860374	166.392725	62	95	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	Missense_Mutation	SNP	27560654	27560654	9637	1	G	A	A	37	37	MAP3K6	A	1	1
WASF2	10163	broad.mit.edu	36	1	27609135	27609135	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27609135G>A	uc001bof.1	-	c.977C>T	c.(976-978)CCG>CTG	p.P326L		NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	326	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)												0.235714	78.52444	87.452997	33	107	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	Missense_Mutation	SNP	27609135	27609135	17825	1	G	A	A	39	39	WASF2	A	1	1
AHDC1	27245	broad.mit.edu	36	1	27747667	27747667	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27747667G>A	uc009vsy.1	-	c.3547C>T	c.(3547-3549)CGG>TGG	p.R1183W	AHDC1_uc009vsz.1_Missense_Mutation_p.R1183W|AHDC1_uc009vta.1_Missense_Mutation_p.R1183W	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1183							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)												0.280992	77.424857	82.630025	34	87	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	Missense_Mutation	SNP	27747667	27747667	415	1	G	A	A	37	37	AHDC1	A	1	1
FGR	2268	broad.mit.edu	36	1	27814908	27814908	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27814908C>T	uc001boj.1	-	c.717G>A	c.(715-717)GCG>GCA	p.A239A	FGR_uc001boi.1_5'Flank|FGR_uc001bok.1_Silent_p.A239A|FGR_uc001bol.1_Silent_p.A239A|FGR_uc001bom.1_Silent_p.A239A	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	239	SH2.				platelet activation|protein phosphorylation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(1)	1		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								129				0.272727	12.034937	13.063828	6	16	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	Silent	SNP	27814908	27814908	6111	1	C	T	T	27	27	FGR	T	1	1
FGR	2268	broad.mit.edu	36	1	27822178	27822178	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27822178G>T	uc001boj.1	-	c.291C>A	c.(289-291)ACC>ACA	p.T97T	FGR_uc001bok.1_Silent_p.T97T|FGR_uc001bol.1_Silent_p.T97T|FGR_uc001bom.1_Silent_p.T97T	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	97	SH3.				platelet activation|protein phosphorylation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(1)	1		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								129				0.309091	84.701268	88.278351	34	76	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	Silent	SNP	27822178	27822178	6111	1	G	T	T	35	35	FGR	T	3	3
C1orf38	9473	broad.mit.edu	36	1	28081667	28081667	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28081667G>A	uc001bpc.2	+	c.1245G>A	c.(1243-1245)GAG>GAA	p.E415E	C1orf38_uc001boz.1_Intron|C1orf38_uc001bpa.1_Intron|C1orf38_uc001bpb.1_Silent_p.E159E	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	basement membrane-induced gene isoform 3	415	CABIT 2.				cell adhesion|inflammatory response					ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)												0.41573	109.557318	110.109512	37	52	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	28081667	28081667	2113	1	G	A	A	33	33	C1orf38	A	2	2
SMPDL3B	27293	broad.mit.edu	36	1	28152344	28152344	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28152344T>C	uc001bpg.1	+	c.405T>C	c.(403-405)CAT>CAC	p.H135H	SMPDL3B_uc001bpf.1_Silent_p.H135H	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	135					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)												0.216418	69.008959	78.945283	29	105	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	Silent	SNP	28152344	28152344	15309	1	T	C	C	51	51	SMPDL3B	C	4	4
SMPDL3B	27293	broad.mit.edu	36	1	28153540	28153540	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28153540G>A	uc001bpg.1	+	c.606G>A	c.(604-606)GCG>GCA	p.A202A	SMPDL3B_uc001bpf.1_Silent_p.A202A	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	202					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)												0.219282	236.327003	274.662717	116	413	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	Silent	SNP	28153540	28153540	15309	1	G	A	A	38	38	SMPDL3B	A	1	1
XKR8	55113	broad.mit.edu	36	1	28165906	28165906	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28165906G>A	uc001bph.1	+	c.796G>A	c.(796-798)GCC>ACC	p.A266T		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related	266	Helical; (Potential).					integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)												0.482143	66.335681	66.349206	27	29	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	Missense_Mutation	SNP	28165906	28165906	18018	1	G	A	A	42	42	XKR8	A	2	2
EYA3	2140	broad.mit.edu	36	1	28226901	28226901	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28226901G>T	uc001bpi.1	-	c.485C>A	c.(484-486)TCT>TAT	p.S162Y	EYA3_uc001bpj.2_Intron|EYA3_uc001bpk.1_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	162					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)												0.496894	448.957912	448.960878	160	162	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	28226901	28226901	5524	1	G	T	T	33	33	EYA3	T	3	3
PTAFR	5724	broad.mit.edu	36	1	28349723	28349723	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28349723G>A	uc001bpl.1	-	c.397C>T	c.(397-399)CGT>TGT	p.R133C	PTAFR_uc001bpm.2_Missense_Mutation_p.R133C|PTAFR_uc009vte.1_Missense_Mutation_p.R133C|PTAFR_uc009vtf.1_Missense_Mutation_p.R133C	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	133	Cytoplasmic (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)												0.379147	209.142557	211.847754	80	131	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	28349723	28349723	13177	1	G	A	A	38	38	PTAFR	A	1	1
PTAFR	5724	broad.mit.edu	36	1	28349792	28349792	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28349792C>T	uc001bpl.1	-	c.328G>A	c.(328-330)GTC>ATC	p.V110I	PTAFR_uc001bpm.2_Missense_Mutation_p.V110I|PTAFR_uc009vte.1_Missense_Mutation_p.V110I|PTAFR_uc009vtf.1_Missense_Mutation_p.V110I	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	110	Helical; Name=3; (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)												0.456853	245.025292	245.343948	90	107	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	28349792	28349792	13177	1	C	T	T	19	19	PTAFR	T	1	1
ATPIF1	93974	broad.mit.edu	36	1	28437035	28437035	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28437035C>T	uc001bpq.1	+	c.280C>T	c.(280-282)CGC>TGC	p.R94C	ATPIF1_uc001bpp.1_3'UTR|ATPIF1_uc001bpr.1_3'UTR	NM_016311	NP_057395	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1 isoform 1 precursor	94	Potential.				angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)												0.190476	37.787956	47.157129	20	85	CC		KEEP	---	---	---	---	capture		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)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	28437035	28437035	1222	1	C	T	T	27	27	ATPIF1	T	1	1
SESN2	83667	broad.mit.edu	36	1	28470829	28470829	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28470829T>C	uc001bps.1	+	c.214T>C	c.(214-216)TCC>CCC	p.S72P		NM_031459	NP_113647	P58004	SESN2_HUMAN	sestrin 2	72					cell cycle arrest	cytoplasm|nucleus				skin(3)|ovary(2)|pancreas(1)|lung(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)												0.451852	203.09765	203.363789	61	74	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	28470829	28470829	14613	1	T	C	C	58	58	SESN2	C	4	4
MED18	54797	broad.mit.edu	36	1	28533661	28533661	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28533661C>T	uc001bpt.2	+	c.220C>T	c.(220-222)CGC>TGC	p.R74C	MED18_uc009vtg.1_Missense_Mutation_p.R74C	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	74					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding|RNA polymerase II transcription mediator activity				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)												0.440336	726.125421	727.956009	262	333	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	28533661	28533661	9825	1	C	T	T	19	19	MED18	T	1	1
PHACTR4	65979	broad.mit.edu	36	1	28665846	28665846	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28665846G>A	uc001bpy.1	+	c.833G>A	c.(832-834)AGA>AAA	p.R278K	PHACTR4_uc001bpu.2_Missense_Mutation_p.R268K|PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.1_Missense_Mutation_p.R268K|PHACTR4_uc001bpx.1_Missense_Mutation_p.R252K	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 2	268	Pro-rich.						actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)												0.400826	279.613113	281.698386	97	145	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	28665846	28665846	12235	1	G	A	A	33	33	PHACTR4	A	2	2
YTHDF2	51441	broad.mit.edu	36	1	28942137	28942137	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28942137G>A	uc001brc.1	+	c.768G>A	c.(766-768)AAG>AAA	p.K256K	YTHDF2_uc001brd.1_Silent_p.K253K|YTHDF2_uc001bre.1_Silent_p.K206K	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	256					humoral immune response					ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)												0.199301	118.389322	142.477057	57	229	GG		KEEP	---	---	---	---	capture		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	28942137	28942137	18082	1	G	A	A	33	33	YTHDF2	A	2	2
YTHDF2	51441	broad.mit.edu	36	1	28942882	28942882	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28942882G>A	uc001brc.1	+	c.1513G>A	c.(1513-1515)GTT>ATT	p.V505I	YTHDF2_uc001brd.1_Missense_Mutation_p.V502I|YTHDF2_uc001bre.1_Missense_Mutation_p.V455I	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	505	YTH.				humoral immune response					ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)												0.307087	93.665944	97.887268	39	88	GG		KEEP	---	---	---	---	capture		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	28942882	28942882	18082	1	G	A	A	40	40	YTHDF2	A	1	1
MECR	51102	broad.mit.edu	36	1	29405947	29405947	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:29405947T>C	uc001brq.1	-	c.464A>G	c.(463-465)GAC>GGC	p.D155G	MECR_uc001brp.1_Missense_Mutation_p.D79G|MECR_uc001brr.1_Missense_Mutation_p.D79G|MECR_uc001brs.1_Non-coding_Transcript|MECR_uc001brt.1_Missense_Mutation_p.D79G	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	155					fatty acid biosynthetic process|oxidation-reduction process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)												0.383721	203.610168	205.648441	66	106	TT		KEEP	---	---	---	---	capture		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	Missense_Mutation	SNP	29405947	29405947	9813	1	T	C	C	58	58	MECR	C	4	4
MATN1	4146	broad.mit.edu	36	1	30961387	30961387	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:30961387C>T	uc001brz.1	-	c.1163G>A	c.(1162-1164)AGC>AAC	p.S388N	MATN1_uc001bsa.1_Missense_Mutation_p.S306N	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	388	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)												0.391608	146.753772	148.229181	56	87	CC		KEEP	---	---	---	---	capture		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	30961387	30961387	9717	1	C	T	T	28	28	MATN1	T	2	2
PRDM16	63976	broad.mit.edu	36	1	3150536	3150536	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3150536C>T	uc001akf.1	+	c.413C>T	c.(412-414)TCG>TTG	p.S138L	PRDM16_uc001akc.1_Missense_Mutation_p.S138L|PRDM16_uc001akd.1_Missense_Mutation_p.S138L|PRDM16_uc001ake.1_Missense_Mutation_p.S138L|PRDM16_uc009vlh.1_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	138	SET.				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|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	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)								1161				0.444444	118.975419	119.242354	44	55	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	3150536	3150536	12899	1	C	T	T	31	31	PRDM16	T	1	1
SNRNP40	9410	broad.mit.edu	36	1	31542161	31542161	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31542161C>T	uc001bso.1	-	c.25G>A	c.(25-27)GGC>AGC	p.G9S	ZCCHC17_uc001bsp.1_5'Flank|ZCCHC17_uc001bsq.1_5'Flank|ZCCHC17_uc009vtu.1_5'Flank|ZCCHC17_uc001bsr.1_5'Flank|ZCCHC17_uc009vtv.1_5'Flank	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	WD repeat domain 57 (U5 snRNP specific)	9					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding				0														0.212903	70.453751	82.216778	33	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31542161	31542161	15356	1	C	T	T	22	22	SNRNP40	T	2	2
SERINC2	347735	broad.mit.edu	36	1	31671224	31671224	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31671224G>A	uc001bst.1	+	c.487G>A	c.(487-489)GGC>AGC	p.G163S	SERINC2_uc009vtw.1_Missense_Mutation_p.R136Q|SERINC2_uc001bsu.1_Missense_Mutation_p.G108S|SERINC2_uc001bsv.1_Missense_Mutation_p.G108S	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN	tumor differentially expressed 2-like	163	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)												0.464143	709.975401	710.529917	233	269	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	Missense_Mutation	SNP	31671224	31671224	14568	1	G	A	A	39	39	SERINC2	A	1	1
COL16A1	1307	broad.mit.edu	36	1	31892230	31892230	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31892230C>A	uc001btk.1	-	c.4359G>T	c.(4357-4359)GAG>GAT	p.E1453D	COL16A1_uc001bti.1_Missense_Mutation_p.E67D|COL16A1_uc001btj.1_Missense_Mutation_p.E1251D	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1453	Nonhelical region 2 (NC2).				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)				Colon(143;498 1786 21362 25193 36625)								0.2	76.941352	94.120268	41	164	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.059)	Missense_Mutation	SNP	31892230	31892230	3811	1	C	A	A	32	32	COL16A1	A	3	3
COL16A1	1307	broad.mit.edu	36	1	31897142	31897142	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31897142C>T	uc001btk.1	-	c.3890G>A	c.(3889-3891)GGG>GAG	p.G1297E	COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Missense_Mutation_p.G1095E	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1297	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)				Colon(143;498 1786 21362 25193 36625)								0.454545	14.675838	14.695255	5	6	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.059)	Missense_Mutation	SNP	31897142	31897142	3811	1	C	T	T	22	22	COL16A1	T	2	2
COL16A1	1307	broad.mit.edu	36	1	31930981	31930981	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31930981G>A	uc001btk.1	-	c.1087C>T	c.(1087-1089)CGA>TGA	p.R363*	COL16A1_uc001btj.1_Nonsense_Mutation_p.R192*|COL16A1_uc001btl.2_Nonsense_Mutation_p.R363*	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	363	Nonhelical region 10 (NC10).				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)				Colon(143;498 1786 21362 25193 36625)								0.466019	136.288902	136.39237	48	55	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.059)	Nonsense_Mutation	SNP	31930981	31930981	3811	1	G	A	A	37	37	COL16A1	A	5	1
BAI2	576	broad.mit.edu	36	1	31982897	31982897	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31982897C>T	uc001btn.1	-	c.861G>A	c.(859-861)CCG>CCA	p.P287P	BAI2_uc001bto.1_Silent_p.P287P|BAI2_uc001btq.1_Silent_p.P275P|BAI2_uc009vty.1_Silent_p.P321P	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	287	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)												0.181818	26.60359	33.928213	14	63	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.0557)	Silent	SNP	31982897	31982897	1320	1	C	T	T	31	31	BAI2	T	1	1
SPOCD1	90853	broad.mit.edu	36	1	32029215	32029215	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32029215C>T	uc001bts.1	-	c.3227G>A	c.(3226-3228)GGC>GAC	p.G1076D	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btt.2_Missense_Mutation_p.G368D|SPOCD1_uc001btu.2_Missense_Mutation_p.G1063D|SPOCD1_uc001btv.2_Missense_Mutation_p.G556D	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1076										ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)												0.366071	104.917209	106.694187	41	71	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.18)	Missense_Mutation	SNP	32029215	32029215	15591	1	C	T	T	26	26	SPOCD1	T	2	2
SPOCD1	90853	broad.mit.edu	36	1	32030486	32030486	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32030486G>T	uc001bts.1	-	c.2879C>A	c.(2878-2880)TCT>TAT	p.S960Y	SPOCD1_uc001btr.1_Missense_Mutation_p.S48Y|SPOCD1_uc001btt.2_Missense_Mutation_p.S265Y|SPOCD1_uc001btu.2_Missense_Mutation_p.S960Y|SPOCD1_uc001btv.2_Missense_Mutation_p.S453Y	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	960	SPOC.									ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)												0.45	47.04012	47.127747	18	22	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.18)	Missense_Mutation	SNP	32030486	32030486	15591	1	G	T	T	33	33	SPOCD1	T	3	3
SPOCD1	90853	broad.mit.edu	36	1	32032325	32032325	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32032325G>A	uc001bts.1	-	c.2370C>T	c.(2368-2370)TGC>TGT	p.C790C	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btt.2_Silent_p.C95C|SPOCD1_uc001btu.2_Silent_p.C790C|SPOCD1_uc001btv.2_Silent_p.C283C	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	790										ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)												0.466667	180.809963	180.940508	63	72	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.18)	Silent	SNP	32032325	32032325	15591	1	G	A	A	42	42	SPOCD1	A	2	2
SPOCD1	90853	broad.mit.edu	36	1	32036678	32036678	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32036678C>T	uc001bts.1	-	c.1980G>A	c.(1978-1980)AAG>AAA	p.K660K	SPOCD1_uc001btt.2_5'UTR|SPOCD1_uc001btu.2_Silent_p.K660K|SPOCD1_uc001btv.2_Silent_p.K153K|SPOCD1_uc001btw.1_5'UTR	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	660	TFIIS central.									ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)												0.416667	159.88355	160.686456	55	77	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.18)	Silent	SNP	32036678	32036678	15591	1	C	T	T	32	32	SPOCD1	T	2	2
SPOCD1	90853	broad.mit.edu	36	1	32052494	32052494	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32052494G>A	uc001bts.1	-	c.1028C>T	c.(1027-1029)GCT>GTT	p.A343V	SPOCD1_uc001btu.2_Missense_Mutation_p.A343V|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	343										ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)												0.242857	40.539326	44.76123	17	53	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.18)	Missense_Mutation	SNP	32052494	32052494	15591	1	G	A	A	34	34	SPOCD1	A	2	2
TMEM39B	55116	broad.mit.edu	36	1	32340845	32340845	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32340845A>G	uc001bue.2	+	c.1466A>G	c.(1465-1467)GAC>GGC	p.D489G	TMEM39B_uc001bud.2_Missense_Mutation_p.D361G|TMEM39B_uc001buf.2_Missense_Mutation_p.D289G	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	488						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)												0.149123	29.113592	42.577175	17	97	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32340845	32340845	16701	1	A	G	G	10	10	TMEM39B	G	4	4
TXLNA	200081	broad.mit.edu	36	1	32430505	32430505	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32430505G>A	uc001bui.1	+	c.970G>A	c.(970-972)GAC>AAC	p.D324N	TXLNA_uc001buj.1_Missense_Mutation_p.D324N	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	324	Potential.				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)												0.467857	364.981669	365.234132	131	149	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32430505	32430505	17343	1	G	A	A	37	37	TXLNA	A	1	1
EIF3I	8668	broad.mit.edu	36	1	32462262	32462262	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32462262G>A	uc001bur.2	+	c.137G>A	c.(136-138)GGC>GAC	p.G46D	C1orf91_uc001buo.2_5'Flank|C1orf91_uc001bup.2_5'Flank|C1orf91_uc009vub.1_5'Flank|C1orf91_uc001buq.2_5'Flank|EIF3I_uc009vuc.1_Missense_Mutation_p.G46D|EIF3I_uc001bus.1_5'UTR	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	46	WD 1.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				Colon(102;1138 2140 2180 17876)								0.165803	44.355557	64.852411	32	161	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32462262	32462262	5210	1	G	A	A	42	42	EIF3I	A	2	2
HDAC1	3065	broad.mit.edu	36	1	32568844	32568844	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32568844C>T	uc001bvb.1	+	c.808C>T	c.(808-810)CGG>TGG	p.R270W	HDAC1_uc001bvc.1_Missense_Mutation_p.R26W	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	270	Histone deacetylase.				anti-apoptosis|blood coagulation|chromatin remodeling|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|negative regulation of gene-specific transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of receptor biosynthetic process	cytosol|NuRD complex|Sin3 complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)			Vorinostat(DB02546)					156				0.211699	157.101813	184.697001	76	283	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Missense_Mutation	SNP	32568844	32568844	7287	1	C	T	T	31	31	HDAC1	T	1	1
BSDC1	55108	broad.mit.edu	36	1	32616207	32616207	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32616207C>T	uc001bvi.1	-	c.678G>A	c.(676-678)CAG>CAA	p.Q226Q	BSDC1_uc001bvg.2_Non-coding_Transcript|BSDC1_uc001bvh.2_Silent_p.Q209Q|BSDC1_uc001bvj.1_Silent_p.Q105Q	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform b	209							protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)												0.232877	40.033397	44.805877	17	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	32616207	32616207	1559	1	C	T	T	28	28	BSDC1	T	2	2
BSDC1	55108	broad.mit.edu	36	1	32622161	32622161	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32622161C>A	uc001bvi.1	-	c.265G>T	c.(265-267)GAG>TAG	p.E89*	BSDC1_uc001bvg.2_Non-coding_Transcript|BSDC1_uc001bvh.2_Nonsense_Mutation_p.E72*|BSDC1_uc001bvj.1_Intron	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform b	72							protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)												0.433333	204.793623	205.495694	78	102	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	32622161	32622161	1559	1	C	A	A	32	32	BSDC1	A	5	3
ZBTB8A	653121	broad.mit.edu	36	1	32831626	32831626	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32831626G>A	uc001bvn.1	+	c.507G>A	c.(505-507)GAG>GAA	p.E169E	ZBTB8A_uc001bvk.1_Non-coding_Transcript|ZBTB8A_uc001bvm.2_Silent_p.E169E	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.173653	54.864167	71.662903	29	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	32831626	32831626	18143	1	G	A	A	34	34	ZBTB8A	A	2	2
ZBTB8A	653121	broad.mit.edu	36	1	32838392	32838392	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32838392G>T	uc001bvn.1	+	c.1111G>T	c.(1111-1113)GAA>TAA	p.E371*	ZBTB8A_uc001bvk.1_Non-coding_Transcript|ZBTB8A_uc001bvm.2_Intron|ZBTB8OS_uc001bvo.1_Non-coding_Transcript	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.489362	125.134282	125.143826	46	48	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	32838392	32838392	18143	1	G	T	T	33	33	ZBTB8A	T	5	3
ZBTB8OS	339487	broad.mit.edu	36	1	32860083	32860083	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32860083C>A	uc001bvp.1	-	c.507G>T	c.(505-507)GAG>GAT	p.E169D	ZBTB8OS_uc001bvo.1_Intron|ZBTB8OS_uc001bvq.1_3'UTR	NM_178547	NP_848642	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite	157											0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)												0.465969	247.040454	247.234484	89	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32860083	32860083	18145	1	C	A	A	32	32	ZBTB8OS	A	3	3
KIAA1522	57648	broad.mit.edu	36	1	33010016	33010016	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33010016C>T	uc001bvu.1	+	c.2649C>T	c.(2647-2649)CTC>CTT	p.L883L	KIAA1522_uc001bvv.1_Silent_p.L824L	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	824	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)												0.225	19.95532	22.734133	9	31	CC		KEEP	---	---	---	---	capture			Silent	SNP	33010016	33010016	8547	1	C	T	T	30	30	KIAA1522	T	2	2
KIAA1522	57648	broad.mit.edu	36	1	33010356	33010356	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33010356C>T	uc001bvu.1	+	c.2989C>T	c.(2989-2991)CGG>TGG	p.R997W	KIAA1522_uc001bvv.1_Missense_Mutation_p.R938W	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	938	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)												0.459016	75.389832	75.479179	28	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33010356	33010356	8547	1	C	T	T	27	27	KIAA1522	T	1	1
PRDM16	63976	broad.mit.edu	36	1	3302980	3302980	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3302980C>T	uc001akf.1	+	c.639C>T	c.(637-639)GGC>GGT	p.G213G	PRDM16_uc001akc.1_Silent_p.G213G|PRDM16_uc001akd.1_Silent_p.G213G|PRDM16_uc001ake.1_Silent_p.G213G|PRDM16_uc009vlh.1_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	213	SET.				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|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	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)								1161				0.225806	14.810439	16.950247	7	24	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	3302980	3302980	12899	1	C	T	T	27	27	PRDM16	T	1	1
YARS	8565	broad.mit.edu	36	1	33049191	33049191	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33049191T>G	uc001bvy.1	-	c.112A>C	c.(112-114)ATT>CTT	p.I38L		NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	38					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)									0.132859	196.251888	306.541905	112	731	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33049191	33049191	18050	1	T	G	G	52	52	YARS	G	4	4
RNF19B	127544	broad.mit.edu	36	1	33176700	33176700	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33176700C>T	uc001bwm.2	-	c.1627G>A	c.(1627-1629)GAT>AAT	p.D543N	RNF19B_uc001bwl.2_Missense_Mutation_p.D353N	NM_001127361	NP_001120833	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform b	544						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)												0.208955	114.75107	135.776627	56	212	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33176700	33176700	13949	1	C	T	T	31	31	RNF19B	T	1	1
PRDM16	63976	broad.mit.edu	36	1	3319042	3319042	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3319042C>T	uc001akf.1	+	c.2421C>T	c.(2419-2421)ATC>ATT	p.I807I	PRDM16_uc001akc.1_Silent_p.I807I|PRDM16_uc001akd.1_Silent_p.I807I|PRDM16_uc001ake.1_Silent_p.I807I|PRDM16_uc009vlh.1_Silent_p.I508I	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	807	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|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	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)								1161				0.518519	36.4416	36.449383	14	13	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	3319042	3319042	12899	1	C	T	T	31	31	PRDM16	T	1	1
ADC	113451	broad.mit.edu	36	1	33358288	33358288	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33358288T>C	uc009vug.1	+	c.1361T>C	c.(1360-1362)GTG>GCG	p.V454A	ADC_uc001bwr.1_Missense_Mutation_p.V434A|ADC_uc001bws.1_Missense_Mutation_p.V434A|ADC_uc009vue.1_Missense_Mutation_p.V434A|ADC_uc001bwt.1_3'UTR|ADC_uc001bwu.1_Missense_Mutation_p.V339A|ADC_uc001bwv.1_Missense_Mutation_p.V339A|ADC_uc001bww.1_Missense_Mutation_p.V339A|ADC_uc001bwx.1_3'UTR	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	434					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)									0.173469	27.354758	37.355499	17	81	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33358288	33358288	288	1	T	C	C	59	59	ADC	C	4	4
PRDM16	63976	broad.mit.edu	36	1	3338549	3338549	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3338549G>A	uc001akf.1	+	c.3681G>A	c.(3679-3681)AGG>AGA	p.R1227R	PRDM16_uc001akc.1_Silent_p.R1226R|PRDM16_uc001akd.1_Silent_p.R1226R|PRDM16_uc001ake.1_Silent_p.R1227R|PRDM16_uc009vlh.1_Silent_p.R927R	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1227	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|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	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)								1161				0.189781	47.836649	60.220866	26	111	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	3338549	3338549	12899	1	G	A	A	42	42	PRDM16	A	2	2
TRIM62	55223	broad.mit.edu	36	1	33419332	33419332	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33419332C>T	uc001bxb.1	-	c.289G>A	c.(289-291)GAC>AAC	p.D97N		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	97	B box-type.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)												0.470588	44.094553	44.120275	16	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33419332	33419332	17083	1	C	T	T	31	31	TRIM62	T	1	1
PHC2	1912	broad.mit.edu	36	1	33593041	33593041	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33593041C>T	uc009vuh.1	-	c.1377G>A	c.(1375-1377)CAG>CAA	p.Q459Q	PHC2_uc001bxg.1_Silent_p.Q459Q|PHC2_uc001bxh.1_Silent_p.Q430Q	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	459					multicellular organismal development		DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)												0.384615	107.874567	109.087996	40	64	CC		KEEP	---	---	---	---	capture			Silent	SNP	33593041	33593041	12240	1	C	T	T	28	28	PHC2	T	2	2
ZSCAN20	7579	broad.mit.edu	36	1	33732888	33732888	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33732888G>A	uc001bxj.2	+	c.2357G>A	c.(2356-2358)AGA>AAA	p.R786K	ZSCAN20_uc009vui.1_Missense_Mutation_p.R785K	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	786	C2H2-type 3.				regulation of transcription, DNA-dependent|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)												0.432258	404.497372	405.738939	134	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33732888	33732888	18836	1	G	A	A	33	33	ZSCAN20	A	2	2
ARHGEF16	27237	broad.mit.edu	36	1	3386235	3386235	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3386235G>T	uc001akg.2	+	c.1889_splice	c.e14-1	p.D630_splice	ARHGEF16_uc001aki.1_Splice_Site_SNP_p.D342_splice|ARHGEF16_uc001akj.1_Splice_Site_SNP_p.D342_splice	NM_014448	NP_055263			Rho guanine exchange factor 16						activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)												0.412281	120.994477	121.762363	47	67	GG		KEEP	---	---	---	---	capture		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	Splice_Site_SNP	SNP	3386235	3386235	913	1	G	T	T	33	33	ARHGEF16	T	5	3
CSMD2	114784	broad.mit.edu	36	1	33863441	33863441	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33863441G>A	uc001bxm.1	-	c.5297C>T	c.(5296-5298)GCG>GTG	p.A1766V	CSMD2_uc001bxn.1_Missense_Mutation_p.A1726V|CSMD2_uc001bxo.1_Missense_Mutation_p.A639V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1726	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.195652	15.344046	19.322679	9	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33863441	33863441	4086	1	G	A	A	38	38	CSMD2	A	1	1
CSMD2	114784	broad.mit.edu	36	1	33864707	33864707	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33864707G>A	uc001bxm.1	-	c.5262C>T	c.(5260-5262)CTC>CTT	p.L1754L	CSMD2_uc001bxn.1_Silent_p.L1714L|CSMD2_uc001bxo.1_Silent_p.L627L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1714	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.45	25.071601	25.115247	9	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	33864707	33864707	4086	1	G	A	A	37	37	CSMD2	A	1	1
CSMD2	114784	broad.mit.edu	36	1	33931143	33931143	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33931143G>A	uc001bxm.1	-	c.4026C>T	c.(4024-4026)ATC>ATT	p.I1342I	CSMD2_uc001bxn.1_Silent_p.I1302I|CSMD2_uc001bxo.1_Silent_p.I215I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1302	CUB 8.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.421918	420.877603	422.793761	154	211	GG		KEEP	---	---	---	---	capture			Silent	SNP	33931143	33931143	4086	1	G	A	A	37	37	CSMD2	A	1	1
MEGF6	1953	broad.mit.edu	36	1	3397340	3397340	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3397340G>A	uc001akl.1	-	c.4560C>T	c.(4558-4560)GGC>GGT	p.G1520G	MEGF6_uc001akk.1_Silent_p.G1208G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3	1520						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)				Ovarian(73;978 3658)								0.382353	37.564616	37.978081	13	21	GG		KEEP	---	---	---	---	capture		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	Silent	SNP	3397340	3397340	9851	1	G	A	A	34	34	MEGF6	A	2	2
HMGB4	127540	broad.mit.edu	36	1	34102499	34102499	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:34102499G>A	uc001bxp.1	+	c.120G>A	c.(118-120)GAG>GAA	p.E40E	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.1_5'UTR|HMGB4_uc009vuj.1_Silent_p.E40E	NM_145205	NP_001008728	B2R4X7	B2R4X7_HUMAN	HMG2 like isoform 1	40						nucleus	DNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)												0.444	328.382773	329.067098	111	139	GG		KEEP	---	---	---	---	capture			Silent	SNP	34102499	34102499	7519	1	G	A	A	36	36	HMGB4	A	2	2
HMGB4	127540	broad.mit.edu	36	1	34102924	34102924	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:34102924G>T	uc001bxp.1	+	c.545G>T	c.(544-546)AGA>ATA	p.R182I	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.1_Missense_Mutation_p.R108I|HMGB4_uc009vuj.1_Missense_Mutation_p.R182I	NM_145205	NP_001008728	B2R4X7	B2R4X7_HUMAN	HMG2 like isoform 1	182						nucleus	DNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)												0.141026	12.664927	22.37571	11	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34102924	34102924	7519	1	G	T	T	33	33	HMGB4	T	3	3
MEGF6	1953	broad.mit.edu	36	1	3417250	3417250	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3417250G>A	uc001akl.1	-	c.1191C>T	c.(1189-1191)TGC>TGT	p.C397C	MEGF6_uc001akk.1_Silent_p.C292C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3	397	EGF-like 7.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)				Ovarian(73;978 3658)								0.19	37.572117	46.557771	19	81	GG		KEEP	---	---	---	---	capture		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	Silent	SNP	3417250	3417250	9851	1	G	A	A	34	34	MEGF6	A	2	2
C1orf94	84970	broad.mit.edu	36	1	34435723	34435723	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:34435723C>A	uc001bxt.1	+	c.631C>A	c.(631-633)CTG>ATG	p.L211M	C1orf94_uc001bxs.2_Missense_Mutation_p.L21M	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	21							protein binding				0		Myeloproliferative disorder(586;0.0393)												0.551351	279.730917	280.153084	102	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34435723	34435723	2147	1	C	A	A	32	32	C1orf94	A	3	3
C1orf94	84970	broad.mit.edu	36	1	34435979	34435979	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:34435979C>T	uc001bxt.1	+	c.887C>T	c.(886-888)CCT>CTT	p.P296L	C1orf94_uc001bxs.2_Missense_Mutation_p.P106L	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	106							protein binding				0		Myeloproliferative disorder(586;0.0393)												0.449102	230.500791	230.878151	75	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34435979	34435979	2147	1	C	T	T	24	24	C1orf94	T	2	2
C1orf94	84970	broad.mit.edu	36	1	34439185	34439185	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:34439185G>A	uc001bxt.1	+	c.1235G>A	c.(1234-1236)CGA>CAA	p.R412Q	C1orf94_uc001bxs.2_Missense_Mutation_p.R222Q	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	222							protein binding				0		Myeloproliferative disorder(586;0.0393)												0.153846	9.523918	13.993902	6	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34439185	34439185	2147	1	G	A	A	37	37	C1orf94	A	1	1
GJB5	2709	broad.mit.edu	36	1	34995990	34995990	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:34995990C>T	uc001bxu.1	+	c.472C>T	c.(472-474)CTC>TTC	p.L158F	GJB5_uc009vuk.1_Missense_Mutation_p.L158F	NM_005268	NP_005259	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	158	Extracellular (Potential).				cell communication|epidermis development	connexon complex|integral to membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)												0.213836	82.23605	94.20905	34	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34995990	34995990	6679	1	C	T	T	24	24	GJB5	T	2	2
GJB5	2709	broad.mit.edu	36	1	34996252	34996252	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:34996252C>T	uc001bxu.1	+	c.734C>T	c.(733-735)TCG>TTG	p.S245L	GJB5_uc009vuk.1_Missense_Mutation_p.S245L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	245	Cytoplasmic (Potential).				cell communication|epidermis development	connexon complex|integral to membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)												0.254902	117.500589	128.623961	52	152	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34996252	34996252	6679	1	C	T	T	31	31	GJB5	T	1	1
GJB4	127534	broad.mit.edu	36	1	34999889	34999889	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:34999889C>T	uc001bxv.1	+	c.447C>T	c.(445-447)TTC>TTT	p.F149F	GJB4_uc001bxw.2_Silent_p.F149F	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	149	Helical; (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)												0.157895	18.045812	28.728846	15	80	CC		KEEP	---	---	---	---	capture			Silent	SNP	34999889	34999889	6678	1	C	T	T	30	30	GJB4	T	2	2
GJA4	2701	broad.mit.edu	36	1	35032632	35032632	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35032632C>T	uc009vul.1	+	c.459C>T	c.(457-459)TAC>TAT	p.Y153Y	GJA4_uc001bya.1_Silent_p.Y77Y|GJA4_uc009vum.1_Silent_p.Y77Y|GJA4_uc009vun.1_Silent_p.Y77Y	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	77	Helical; (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)												0.494253	255.615198	255.620586	86	88	CC		KEEP	---	---	---	---	capture			Silent	SNP	35032632	35032632	6671	1	C	T	T	20	20	GJA4	T	2	2
DLGAP3	58512	broad.mit.edu	36	1	35138289	35138289	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35138289C>T	uc001byc.1	-	c.1280G>A	c.(1279-1281)CGT>CAT	p.R427H		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	427					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)												0.243902	84.847623	94.633867	40	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35138289	35138289	4741	1	C	T	T	19	19	DLGAP3	T	1	1
DLGAP3	58512	broad.mit.edu	36	1	35138400	35138400	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35138400C>T	uc001byc.1	-	c.1169G>A	c.(1168-1170)CGC>CAC	p.R390H		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	390					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)												0.348974	297.725119	304.586404	119	222	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35138400	35138400	4741	1	C	T	T	27	27	DLGAP3	T	1	1
ZMYM1	79830	broad.mit.edu	36	1	35351369	35351369	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35351369G>T	uc001bym.1	+	c.1351G>T	c.(1351-1353)GGT>TGT	p.G451C	ZMYM1_uc001byn.1_Missense_Mutation_p.G451C|ZMYM1_uc001byo.1_Missense_Mutation_p.G91C|ZMYM1_uc009vut.1_Missense_Mutation_p.G376C	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	451						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.504425	160.862067	160.863859	57	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35351369	35351369	18290	1	G	T	T	35	35	ZMYM1	T	3	3
ZMYM1	79830	broad.mit.edu	36	1	35351510	35351510	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35351510C>A	uc001bym.1	+	c.1492C>A	c.(1492-1494)CAC>AAC	p.H498N	ZMYM1_uc001byn.1_Missense_Mutation_p.H498N|ZMYM1_uc001byo.1_Missense_Mutation_p.H138N|ZMYM1_uc009vut.1_Missense_Mutation_p.H423N	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	498	TTF-type.					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.485294	286.001635	286.04053	99	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35351510	35351510	18290	1	C	A	A	21	21	ZMYM1	A	3	3
ZMYM4	9202	broad.mit.edu	36	1	35623629	35623629	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35623629G>T	uc001byt.1	+	c.1570_splice	c.e10-1	p.K524_splice	ZMYM4_uc009vuu.1_Splice_Site_SNP_p.K492_splice|ZMYM4_uc001byu.1_Splice_Site_SNP_p.K200_splice|ZMYM4_uc009vuv.1_Splice_Site_SNP_p.K263_splice	NM_005095	NP_005086			zinc finger protein 262						multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.169591	47.354264	65.039461	29	142	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	35623629	35623629	18293	1	G	T	T	33	33	ZMYM4	T	5	3
ZMYM4	9202	broad.mit.edu	36	1	35624339	35624339	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35624339C>T	uc001byt.1	+	c.1798C>T	c.(1798-1800)CGC>TGC	p.R600C	ZMYM4_uc009vuu.1_Missense_Mutation_p.R568C|ZMYM4_uc001byu.1_Missense_Mutation_p.R276C|ZMYM4_uc009vuv.1_Missense_Mutation_p.R339C	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	600	MYM-type 6.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.405714	194.087273	195.447415	71	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35624339	35624339	18293	1	C	T	T	19	19	ZMYM4	T	1	1
ZMYM4	9202	broad.mit.edu	36	1	35628161	35628161	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35628161G>A	uc001byt.1	+	c.2462G>A	c.(2461-2463)CGA>CAA	p.R821Q	ZMYM4_uc009vuu.1_Missense_Mutation_p.R789Q|ZMYM4_uc001byu.1_Missense_Mutation_p.R497Q|ZMYM4_uc009vuv.1_Missense_Mutation_p.R560Q	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	821	MYM-type 9.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.159091	33.687243	48.309926	21	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35628161	35628161	18293	1	G	A	A	37	37	ZMYM4	A	1	1
KIAA0319L	79932	broad.mit.edu	36	1	35688569	35688569	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35688569C>A	uc001byx.1	-	c.2191G>T	c.(2191-2193)GAT>TAT	p.D731Y	KIAA0319L_uc001byy.1_Missense_Mutation_p.D731Y|KIAA0319L_uc001byw.1_Missense_Mutation_p.D173Y	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	polycystic kidney disease 1-like isoform a	731	PKD 5.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.189873	79.122323	100.459339	45	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35688569	35688569	8476	1	C	A	A	32	32	KIAA0319L	A	3	3
CLSPN	63967	broad.mit.edu	36	1	35984952	35984952	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35984952A>G	uc001bzi.1	-	c.2854_splice	c.e15+1	p.D952_splice	CLSPN_uc009vux.1_Splice_Site_SNP_p.D888_splice	NM_022111	NP_071394			claspin						activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			ovary(2)|breast(2)|kidney(1)|lung(1)|central_nervous_system(1)	7		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.180556	61.389524	75.183147	26	118	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	35984952	35984952	3698	1	A	G	G	14	14	CLSPN	G	5	4
CLSPN	63967	broad.mit.edu	36	1	35989452	35989452	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35989452C>T	uc001bzi.1	-	c.2014G>A	c.(2014-2016)GAA>AAA	p.E672K	CLSPN_uc009vux.1_Missense_Mutation_p.E608K	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	672	Potential.				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			ovary(2)|breast(2)|kidney(1)|lung(1)|central_nervous_system(1)	7		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.220588	35.385419	40.275701	15	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35989452	35989452	3698	1	C	T	T	32	32	CLSPN	T	2	2
CLSPN	63967	broad.mit.edu	36	1	35999306	35999306	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:35999306C>T	uc001bzi.1	-	c.982G>A	c.(982-984)GGA>AGA	p.G328R	CLSPN_uc009vux.1_Missense_Mutation_p.G328R	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	328					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			ovary(2)|breast(2)|kidney(1)|lung(1)|central_nervous_system(1)	7		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.232	146.719443	163.165799	58	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35999306	35999306	3698	1	C	T	T	23	23	CLSPN	T	1	1
EIF2C1	26523	broad.mit.edu	36	1	36131370	36131370	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36131370G>A	uc001bzl.1	+	c.416G>A	c.(415-417)CGA>CAA	p.R139Q	EIF2C1_uc001bzk.1_Missense_Mutation_p.R64Q|EIF2C1_uc009vuy.1_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	139					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.206612	50.250271	59.875215	25	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36131370	36131370	5194	1	G	A	A	37	37	EIF2C1	A	1	1
TP73	7161	broad.mit.edu	36	1	3628607	3628607	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3628607G>A	uc001akp.2	+	c.592G>A	c.(592-594)GAG>AAG	p.E198K	TP73_uc001akq.1_Missense_Mutation_p.E198K|TP73_uc001akr.2_Missense_Mutation_p.E149K|TP73_uc009vlk.1_Missense_Mutation_p.E149K|TP73_uc001aks.2_Missense_Mutation_p.E149K	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	198	DNA-binding (Potential).				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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)								1049				0.364706	81.60392	82.971486	31	54	GG		KEEP	---	---	---	---	capture		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	Missense_Mutation	SNP	3628607	3628607	16937	1	G	A	A	37	37	TP73	A	1	1
EIF2C3	192669	broad.mit.edu	36	1	36293232	36293232	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36293232C>T	uc001bzp.1	+	c.2373C>T	c.(2371-2373)TAC>TAT	p.Y791Y	EIF2C3_uc001bzq.1_Silent_p.Y557Y	NM_024852	NP_803171	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	791	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				Colon(144;60 2363 31043 40539)								0.253623	80.661443	88.265189	35	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	36293232	36293232	5196	1	C	T	T	19	19	EIF2C3	T	1	1
KIAA0495	57212	broad.mit.edu	36	1	3652325	3652325	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3652325C>T	uc009vlm.1	-	c.303G>A	c.(301-303)GAG>GAA	p.E101E	KIAA0495_uc001akt.2_Non-coding_Transcript	NM_207306	NP_997189			hypothetical protein LOC57212												0	all_cancers(77;0.0338)|Ovarian(185;0.0634)|Lung NSC(156;0.172)|all_lung(157;0.182)	all_epithelial(116;1.83e-21)|all_lung(118;2e-08)|Lung NSC(185;7.5e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)												0.224806	61.932158	70.897025	29	100	CC		KEEP	---	---	---	---	capture		Epithelial(90;1.27e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.204)	Silent	SNP	3652325	3652325	8487	1	C	T	T	28	28	KIAA0495	T	2	2
THRAP3	9967	broad.mit.edu	36	1	36524789	36524789	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36524789G>A	uc001cae.2	+	c.371G>A	c.(370-372)CGT>CAT	p.R124H	THRAP3_uc001caf.2_Missense_Mutation_p.R124H|THRAP3_uc001cag.1_Missense_Mutation_p.R124H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	124	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(5)|lung(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				Pancreas(129;785 1795 20938 23278 32581)				199				0.199143	175.144966	214.466639	93	374	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36524789	36524789	16402	1	G	A	A	40	40	THRAP3	A	1	1
THRAP3	9967	broad.mit.edu	36	1	36534823	36534823	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36534823G>A	uc001cae.2	+	c.2168G>A	c.(2167-2169)CGT>CAT	p.R723H	THRAP3_uc001caf.2_Missense_Mutation_p.R723H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	723					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(5)|lung(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				Pancreas(129;785 1795 20938 23278 32581)				199				0.209302	92.018087	108.794946	45	170	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36534823	36534823	16402	1	G	A	A	40	40	THRAP3	A	1	1
FAM176B	55194	broad.mit.edu	36	1	36560707	36560707	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36560707C>A	uc001cai.1	-	c.274G>T	c.(274-276)GAC>TAC	p.D92Y	C1orf113_uc001cah.1_3'UTR|FAM176B_uc001caj.1_Missense_Mutation_p.D92Y	NM_018166	NP_060636	Q9NVM1	F176B_HUMAN	hypothetical protein LOC55194	92						integral to membrane				pancreas(1)	1														0.2	9.764942	11.855171	5	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36560707	36560707	5706	1	C	A	A	31	31	FAM176B	A	3	3
STK40	83931	broad.mit.edu	36	1	36593520	36593520	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36593520G>T	uc001cal.1	-	c.459C>A	c.(457-459)GAC>GAA	p.D153E	STK40_uc001cak.1_Missense_Mutation_p.D148E|STK40_uc001cam.1_Missense_Mutation_p.D148E|STK40_uc009vva.1_Missense_Mutation_p.D148E|STK40_uc001can.1_Missense_Mutation_p.D148E	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	148	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)								230				0.19571	291.861143	356.327394	146	600	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36593520	36593520	15827	1	G	T	T	36	36	STK40	T	3	3
CCDC27	148870	broad.mit.edu	36	1	3663255	3663255	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3663255G>A	uc001akv.1	+	c.652G>A	c.(652-654)GCA>ACA	p.A218T		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	218											0	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)												0.454545	149.5019	149.720425	55	66	GG		KEEP	---	---	---	---	capture		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	Missense_Mutation	SNP	3663255	3663255	2923	1	G	A	A	38	38	CCDC27	A	1	1
CSF3R	1441	broad.mit.edu	36	1	36717667	36717667	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36717667G>T	uc001cax.1	-	c.18C>A	c.(16-18)AAC>AAA	p.N6K	CSF3R_uc001cav.1_Missense_Mutation_p.N6K|CSF3R_uc001caw.1_Missense_Mutation_p.N6K|CSF3R_uc001cay.1_Missense_Mutation_p.N6K	NM_156039	NP_724781	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform c	6					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)					322				0.459677	171.221846	171.401139	57	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36717667	36717667	4078	1	G	T	T	36	36	CSF3R	T	3	3
GRIK3	2899	broad.mit.edu	36	1	37040143	37040143	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37040143C>T	uc001caz.2	-	c.2656G>A	c.(2656-2658)GTC>ATC	p.V886I		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	886	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)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.417323	144.381996	145.130622	53	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37040143	37040143	7054	1	C	T	T	18	18	GRIK3	T	2	2
ZC3H12A	80149	broad.mit.edu	36	1	37713673	37713673	+	De_novo_Start_OutOfFrame	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37713673G>T	uc001cbb.2	+	c.-11G>T	c.(-13--9)CAGGA>CATGA			NM_025079	NP_079355			zinc finger CCCH-type containing 12A						angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)												0.174888	62.257393	84.541555	39	184	GG		KEEP	---	---	---	---	capture			De_novo_Start_OutOfFrame	SNP	37713673	37713673	18149	1	G	T	T	35	35	ZC3H12A	T	5	3
ZC3H12A	80149	broad.mit.edu	36	1	37719978	37719978	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37719978G>A	uc001cbb.2	+	c.773G>A	c.(772-774)CGC>CAC	p.R258H	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	258					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)												0.190476	26.822854	34.296231	16	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37719978	37719978	18149	1	G	A	A	38	38	ZC3H12A	A	1	1
MEAF6	64769	broad.mit.edu	36	1	37747708	37747708	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37747708G>A	uc001cbe.1	-	c.229C>T	c.(229-231)CGA>TGA	p.R77*	MEAF6_uc001cbd.1_Nonsense_Mutation_p.R55*|MEAF6_uc009vvd.1_Non-coding_Transcript|MEAF6_uc001cbf.1_Non-coding_Transcript|MEAF6_uc001cbg.1_Nonsense_Mutation_p.R77*|MEAF6_uc001cbh.1_Nonsense_Mutation_p.R77*	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	hypothetical protein LOC64769	77					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding				0														0.186253	159.707508	201.337681	84	367	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	37747708	37747708	9810	1	G	A	A	37	37	MEAF6	A	5	1
SNIP1	79753	broad.mit.edu	36	1	37778360	37778360	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37778360G>A	uc001cbi.1	-	c.911C>T	c.(910-912)GCG>GTG	p.A304V		NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	304	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			lung(1)	1		Myeloproliferative disorder(586;0.0393)												0.21988	154.093296	178.092859	73	259	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37778360	37778360	15348	1	G	A	A	38	38	SNIP1	A	1	1
SNIP1	79753	broad.mit.edu	36	1	37790867	37790867	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37790867C>T	uc001cbi.1	-	c.293G>A	c.(292-294)CGA>CAA	p.R98Q		NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	98	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			lung(1)	1		Myeloproliferative disorder(586;0.0393)												0.437269	670.974489	672.836691	237	305	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37790867	37790867	15348	1	C	T	T	31	31	SNIP1	T	1	1
SNIP1	79753	broad.mit.edu	36	1	37792304	37792304	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37792304G>A	uc001cbi.1	-	c.114C>T	c.(112-114)GTC>GTT	p.V38V	DNALI1_uc001cbj.1_5'Flank	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	38					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			lung(1)	1		Myeloproliferative disorder(586;0.0393)												0.492308	87.19636	87.199631	32	33	GG		KEEP	---	---	---	---	capture			Silent	SNP	37792304	37792304	15348	1	G	A	A	37	37	SNIP1	A	1	1
GNL2	29889	broad.mit.edu	36	1	37814663	37814663	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37814663G>A	uc001cbk.1	-	c.991C>T	c.(991-993)CGT>TGT	p.R331C		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	331	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)												0.471042	340.208753	340.398692	122	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37814663	37814663	6805	1	G	A	A	38	38	GNL2	A	1	1
RSPO1	284654	broad.mit.edu	36	1	37852093	37852093	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37852093G>T	uc001cbl.1	-	c.495C>A	c.(493-495)CTC>CTA	p.L165L	RSPO1_uc009vvf.1_Silent_p.L138L|RSPO1_uc001cbm.1_Silent_p.L165L|RSPO1_uc009vvg.1_Intron	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1	165	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GBM(122;680 2230 27822 42821)								0.395122	209.906474	211.886918	81	124	GG		KEEP	---	---	---	---	capture			Silent	SNP	37852093	37852093	14189	1	G	T	T	33	33	RSPO1	T	3	3
CDCA8	55143	broad.mit.edu	36	1	37943777	37943777	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37943777T>G	uc001cbr.1	+	c.662T>G	c.(661-663)CTT>CGT	p.L221R	CDCA8_uc001cbs.1_Missense_Mutation_p.L221R	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	221					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)												0.213873	81.889169	94.990544	37	136	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37943777	37943777	3221	1	T	G	G	56	56	CDCA8	G	4	4
EPHA10	284656	broad.mit.edu	36	1	37957760	37957760	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37957760C>A	uc009vvi.1	-	c.2669G>T	c.(2668-2670)CGG>CTG	p.R890L	EPHA10_uc001cbt.2_Intron|EPHA10_uc009vvh.1_Intron|EPHA10_uc001cbu.2_Intron|EPHA10_uc001cbv.1_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	890	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(3)|stomach(1)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)								328				0.488095	117.847366	117.858276	41	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37957760	37957760	5359	1	C	A	A	23	23	EPHA10	A	3	3
EPHA10	284656	broad.mit.edu	36	1	37999968	37999968	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37999968C>T	uc009vvi.1	-	c.546G>A	c.(544-546)CCG>CCA	p.P182P	EPHA10_uc001cbw.2_Silent_p.P182P	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	182	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(3)|stomach(1)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)								328				0.179856	43.140435	56.509386	25	114	CC		KEEP	---	---	---	---	capture			Silent	SNP	37999968	37999968	5359	1	C	T	T	27	27	EPHA10	T	1	1
MTF1	4520	broad.mit.edu	36	1	38060752	38060752	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38060752T>C	uc001cce.1	-	c.1395A>G	c.(1393-1395)TTA>TTG	p.L465L	MTF1_uc009vvj.1_Silent_p.L156L	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	465	Pro-rich.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.507463	116.057241	116.060663	34	33	TT		KEEP	---	---	---	---	capture			Silent	SNP	38060752	38060752	10315	1	T	C	C	57	57	MTF1	C	4	4
MTF1	4520	broad.mit.edu	36	1	38073996	38073996	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38073996G>A	uc001cce.1	-	c.787C>T	c.(787-789)CAC>TAC	p.H263Y	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	263	C2H2-type 5.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.209302	54.149997	64.246643	27	102	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38073996	38073996	10315	1	G	A	A	45	45	MTF1	A	2	2
MTF1	4520	broad.mit.edu	36	1	38076965	38076965	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38076965G>T	uc001cce.1	-	c.698C>A	c.(697-699)TCT>TAT	p.S233Y	MTF1_uc009vvj.1_De_novo_Start_OutOfFrame	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	233	C2H2-type 4.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.273743	111.376905	119.648374	49	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38076965	38076965	10315	1	G	T	T	33	33	MTF1	T	3	3
INPP5B	3633	broad.mit.edu	36	1	38116551	38116551	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38116551G>A	uc001ccg.1	-	c.1573C>T	c.(1573-1575)CGG>TGG	p.R525W	INPP5B_uc001ccf.1_Missense_Mutation_p.R361W|INPP5B_uc009vvk.1_Missense_Mutation_p.R466W	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	605				GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence).	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.458716	141.031916	141.194275	50	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38116551	38116551	8056	1	G	A	A	37	37	INPP5B	A	1	1
INPP5B	3633	broad.mit.edu	36	1	38123966	38123966	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38123966T>C	uc001ccg.1	-	c.1250A>G	c.(1249-1251)GAC>GGC	p.D417G	INPP5B_uc001ccf.1_Missense_Mutation_p.D253G|INPP5B_uc009vvk.1_Missense_Mutation_p.D358G	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	497					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.461126	564.124807	564.617673	172	201	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38123966	38123966	8056	1	T	C	C	58	58	INPP5B	C	4	4
INPP5B	3633	broad.mit.edu	36	1	38184541	38184541	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38184541C>T	uc001ccg.1	-	c.27G>A	c.(25-27)GAG>GAA	p.E9E	INPP5B_uc009vvk.1_5'Flank|INPP5B_uc001cch.2_5'Flank	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	9					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.228571	17.780457	20.147038	8	27	CC		KEEP	---	---	---	---	capture			Silent	SNP	38184541	38184541	8056	1	C	T	T	32	32	INPP5B	T	2	2
SF3A3	10946	broad.mit.edu	36	1	38228196	38228196	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38228196C>T	uc001cci.1	-	c.29G>A	c.(28-30)CGC>CAC	p.R10H		NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	10					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)										OREG0013386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.430328	274.798519	275.836497	105	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38228196	38228196	14637	1	C	T	T	27	27	SF3A3	T	1	1
UTP11L	51118	broad.mit.edu	36	1	38256837	38256837	+	Splice_Site_SNP	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38256837G>C	uc001ccn.2	+	c.342_splice	c.e4+1	p.K114_splice	UTP11L_uc009vvm.1_Splice_Site_SNP_p.K45_splice|UTP11L_uc001cco.2_Splice_Site_SNP_p.K45_splice	NM_016037	NP_057121			UTP11-like, U3 small nucleolar						induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.272727	62.512698	66.12121	21	56	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	38256837	38256837	17659	1	G	C	C	44	44	UTP11L	C	5	3
GJA9	81025	broad.mit.edu	36	1	39113973	39113973	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39113973G>A	uc001cct.1	-	c.385C>T	c.(385-387)CGG>TGG	p.R129W	RRAGC_uc001ccr.1_5'Flank|MYCBP_uc001ccs.1_5'Flank|GJA9_uc009vvn.1_Missense_Mutation_p.R129W	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	129	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.44382	450.311057	451.287404	158	198	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		Missense_Mutation	SNP	39113973	39113973	6674	1	G	A	A	37	37	GJA9	A	1	1
RHBDL2	54933	broad.mit.edu	36	1	39134315	39134315	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39134315G>A	uc001ccu.1	-	c.522C>T	c.(520-522)AGC>AGT	p.S174S		NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid-related protein 2	174	Helical; (Potential).					integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.227723	49.766713	56.64303	23	78	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		Silent	SNP	39134315	39134315	13797	1	G	A	A	34	34	RHBDL2	A	2	2
MACF1	23499	broad.mit.edu	36	1	39571211	39571211	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39571211G>A	uc009vvr.1	+	c.1684G>A	c.(1684-1686)GTC>ATC	p.V562I	MACF1_uc009vvo.1_Intron|MACF1_uc009vvp.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvs.1_Missense_Mutation_p.V562I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:Variant_position_missing_in_Q9UPN3_after_alignment					cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.448276	139.271832	139.543886	52	64	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39571211	39571211	9521	1	G	A	A	48	48	MACF1	A	2	2
MACF1	23499	broad.mit.edu	36	1	39573907	39573907	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39573907G>T	uc009vvr.1	+	c.4380G>T	c.(4378-4380)ATG>ATT	p.M1460I	MACF1_uc009vvo.1_Intron|MACF1_uc009vvp.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvs.1_Missense_Mutation_p.M1460I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1629	Spectrin 8.|Potential.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.410959	159.660694	160.674343	60	86	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39573907	39573907	9521	1	G	T	T	45	45	MACF1	T	3	3
MACF1	23499	broad.mit.edu	36	1	39608331	39608331	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39608331C>A	uc009vvr.1	+	c.8301C>A	c.(8299-8301)TTC>TTA	p.F2767L	MACF1_uc009vvo.1_Missense_Mutation_p.F2265L|MACF1_uc009vvp.1_Missense_Mutation_p.F2265L|MACF1_uc001cda.1_Missense_Mutation_p.F2173L|MACF1_uc001cdb.1_Missense_Mutation_p.F1352L|MACF1_uc001cdc.1_Missense_Mutation_p.F1352L|MACF1_uc009vvs.1_Missense_Mutation_p.F2767L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2265	Spectrin 11.|Potential.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.337209	72.047117	74.063561	29	57	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39608331	39608331	9521	1	C	A	A	30	30	MACF1	A	3	3
MACF1	23499	broad.mit.edu	36	1	39617644	39617644	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39617644G>A	uc009vvr.1	+	c.8779G>A	c.(8779-8781)GAT>AAT	p.D2927N	MACF1_uc009vvo.1_Missense_Mutation_p.D2425N|MACF1_uc009vvp.1_Missense_Mutation_p.D2425N|MACF1_uc001cda.1_Missense_Mutation_p.D2312N|MACF1_uc001cdc.1_Missense_Mutation_p.D1491N|MACF1_uc009vvs.1_Missense_Mutation_p.D2927N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2425	Spectrin 13.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.232601	281.932463	317.696521	127	419	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39617644	39617644	9521	1	G	A	A	41	41	MACF1	A	2	2
MACF1	23499	broad.mit.edu	36	1	39625451	39625451	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39625451C>T	uc009vvr.1	+	c.9670C>T	c.(9670-9672)CGC>TGC	p.R3224C	MACF1_uc009vvo.1_Missense_Mutation_p.R2722C|MACF1_uc009vvp.1_Missense_Mutation_p.R2722C|MACF1_uc001cda.1_Missense_Mutation_p.R2609C|MACF1_uc001cdc.1_Missense_Mutation_p.R1788C|MACF1_uc009vvs.1_Missense_Mutation_p.R3224C	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2722	Spectrin 15.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.186701	134.921561	170.90347	73	318	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39625451	39625451	9521	1	C	T	T	31	31	MACF1	T	1	1
KIAA0754	643314	broad.mit.edu	36	1	39648643	39648643	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39648643A>C	uc009vvt.1	+	c.119A>C	c.(118-120)GAT>GCT	p.D40A	MACF1_uc009vvo.1_Intron|MACF1_uc009vvp.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvr.1_Intron|MACF1_uc009vvs.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	Error:Variant_position_missing_in_O94854_after_alignment											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.184466	45.87068	55.483191	19	84	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39648643	39648643	8499	1	A	C	C	12	12	KIAA0754	C	4	4
KIAA0754	643314	broad.mit.edu	36	1	39650616	39650616	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39650616C>T	uc009vvt.1	+	c.2092C>T	c.(2092-2094)CTG>TTG	p.L698L	MACF1_uc009vvo.1_Intron|MACF1_uc009vvp.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvr.1_Intron|MACF1_uc009vvs.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	562											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.243421	92.193843	101.318879	37	115	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Silent	SNP	39650616	39650616	8499	1	C	T	T	32	32	KIAA0754	T	2	2
KIAA0754	643314	broad.mit.edu	36	1	39650753	39650753	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39650753C>A	uc009vvt.1	+	c.2229C>A	c.(2227-2229)TTC>TTA	p.F743L	MACF1_uc009vvo.1_Intron|MACF1_uc009vvp.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvr.1_Intron|MACF1_uc009vvs.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	607											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.247863	62.715709	69.486546	29	88	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39650753	39650753	8499	1	C	A	A	30	30	KIAA0754	A	3	3
KIAA0754	643314	broad.mit.edu	36	1	39652756	39652756	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39652756C>A	uc009vvt.1	+	c.4232C>A	c.(4231-4233)TCT>TAT	p.S1411Y	MACF1_uc009vvo.1_Intron|MACF1_uc009vvp.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvr.1_Intron|MACF1_uc009vvs.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	1275											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.238806	34.160748	38.339946	16	51	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39652756	39652756	8499	1	C	A	A	32	32	KIAA0754	A	3	3
MACF1	23499	broad.mit.edu	36	1	39669078	39669078	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39669078T>C	uc009vvr.1	+	c.12568T>C	c.(12568-12570)TCC>CCC	p.S4190P	MACF1_uc009vvo.1_Missense_Mutation_p.S3688P|MACF1_uc009vvp.1_Missense_Mutation_p.S3688P|MACF1_uc001cda.1_Missense_Mutation_p.S3575P|MACF1_uc001cdc.1_Missense_Mutation_p.S2645P|MACF1_uc009vvs.1_Missense_Mutation_p.S4190P	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3688					cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.239316	74.950435	82.202799	28	89	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39669078	39669078	9521	1	T	C	C	58	58	MACF1	C	4	4
MACF1	23499	broad.mit.edu	36	1	39676107	39676107	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39676107G>T	uc009vvr.1	+	c.13389G>T	c.(13387-13389)CTG>CTT	p.L4463L	MACF1_uc009vvo.1_Silent_p.L3961L|MACF1_uc009vvp.1_Silent_p.L3961L|MACF1_uc009vvs.1_Silent_p.L4463L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3961					cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.24173	202.987983	226.938177	95	298	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Silent	SNP	39676107	39676107	9521	1	G	T	T	45	45	MACF1	T	3	3
MACF1	23499	broad.mit.edu	36	1	39685841	39685841	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39685841C>T	uc009vvr.1	+	c.15085C>T	c.(15085-15087)CAC>TAC	p.H5029Y	MACF1_uc009vvo.1_Missense_Mutation_p.H4527Y|MACF1_uc009vvp.1_Missense_Mutation_p.H4527Y|MACF1_uc009vvs.1_Missense_Mutation_p.H5029Y	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4527	Spectrin 32.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.431452	284.256859	285.278116	107	141	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39685841	39685841	9521	1	C	T	T	25	25	MACF1	T	2	2
MACF1	23499	broad.mit.edu	36	1	39692104	39692104	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39692104G>A	uc009vvr.1	+	c.16210G>A	c.(16210-16212)GAG>AAG	p.E5404K	MACF1_uc009vvo.1_Missense_Mutation_p.E4902K|MACF1_uc009vvp.1_Missense_Mutation_p.E4902K|MACF1_uc009vvs.1_Missense_Mutation_p.E5404K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4902	Spectrin 35.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.429735	594.022724	596.140979	211	280	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39692104	39692104	9521	1	G	A	A	37	37	MACF1	A	1	1
PABPC4	8761	broad.mit.edu	36	1	39802163	39802163	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39802163C>T	uc001cdl.1	-	c.1472G>A	c.(1471-1473)CGC>CAC	p.R491H	PABPC4_uc001cdm.1_Intron|PABPC4_uc001cdn.1_Missense_Mutation_p.R475H	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	475					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.186567	45.699799	58.035595	25	109	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Missense_Mutation	SNP	39802163	39802163	11781	1	C	T	T	27	27	PABPC4	T	1	1
PABPC4	8761	broad.mit.edu	36	1	39809561	39809561	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39809561G>A	uc001cdl.1	-	c.435C>T	c.(433-435)TTC>TTT	p.F145F	PABPC4_uc001cdm.1_Silent_p.F145F|PABPC4_uc001cdn.1_Silent_p.F145F	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	145	RRM 2.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.399457	405.232932	408.49111	147	221	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Silent	SNP	39809561	39809561	11781	1	G	A	A	37	37	PABPC4	A	1	1
HEYL	26508	broad.mit.edu	36	1	39865220	39865220	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39865220G>T	uc001cdp.1	-	c.533C>A	c.(532-534)TCT>TAT	p.S178Y		NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	178	Pro-rich.				nervous system development|Notch signaling pathway|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.191781	21.510995	27.994667	14	59	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Missense_Mutation	SNP	39865220	39865220	7363	1	G	T	T	33	33	HEYL	T	3	3
HEYL	26508	broad.mit.edu	36	1	39869813	39869813	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39869813C>T	uc001cdp.1	-	c.173G>A	c.(172-174)CGC>CAC	p.R58H		NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	58	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).|Helix-loop-helix motif.				nervous system development|Notch signaling pathway|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.208696	48.836446	57.874253	24	91	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Missense_Mutation	SNP	39869813	39869813	7363	1	C	T	T	27	27	HEYL	T	1	1
BMP8B	656	broad.mit.edu	36	1	40002919	40002919	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40002919G>A	uc001cdz.1	-	c.831C>T	c.(829-831)AAC>AAT	p.N277N	BMP8B_uc001cea.1_Silent_p.N302N	NM_001720	NP_001711	P34820	BMP8B_HUMAN	bone morphogenetic protein 8B preproprotein	277					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.113043	7.946058	24.905716	13	102	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Silent	SNP	40002919	40002919	1492	1	G	A	A	40	40	BMP8B	A	1	1
TRIT1	54802	broad.mit.edu	36	1	40082816	40082816	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40082816G>A	uc009vvw.1	-	c.1090C>T	c.(1090-1092)CTT>TTT	p.L364F	TRIT1_uc001ceq.1_Missense_Mutation_p.L60F|TRIT1_uc001cek.1_Missense_Mutation_p.L60F|TRIT1_uc009vvx.1_Non-coding_Transcript|TRIT1_uc001cel.1_Intron|TRIT1_uc001cem.1_Missense_Mutation_p.L282F|TRIT1_uc001cen.1_Missense_Mutation_p.L118F|TRIT1_uc001ceo.1_Missense_Mutation_p.L118F|TRIT1_uc001cep.1_Missense_Mutation_p.L118F|TRIT1_uc001cei.2_Missense_Mutation_p.L118F|TRIT1_uc001cec.2_Non-coding_Transcript|TRIT1_uc001ced.2_Missense_Mutation_p.L60F|TRIT1_uc001cee.2_Non-coding_Transcript|TRIT1_uc001cef.2_Non-coding_Transcript|TRIT1_uc001ceg.2_Missense_Mutation_p.L118F|TRIT1_uc001ceh.2_Missense_Mutation_p.L118F|TRIT1_uc009vvv.1_Missense_Mutation_p.L197F	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	364					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.169118	43.532446	57.635282	23	113	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Missense_Mutation	SNP	40082816	40082816	17110	1	G	A	A	33	33	TRIT1	A	2	2
TRIT1	54802	broad.mit.edu	36	1	40088501	40088501	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40088501C>A	uc009vvw.1	-	c.580G>T	c.(580-582)GAA>TAA	p.E194*	TRIT1_uc001ceq.1_5'UTR|TRIT1_uc001cek.1_Intron|TRIT1_uc009vvx.1_Intron|TRIT1_uc001cel.1_Intron|TRIT1_uc001cem.1_Nonsense_Mutation_p.E114*|TRIT1_uc001cen.1_5'UTR|TRIT1_uc001ceo.1_5'UTR|TRIT1_uc001cep.1_Intron|TRIT1_uc001cei.2_5'UTR|TRIT1_uc001cec.2_Non-coding_Transcript|TRIT1_uc001ced.2_5'UTR|TRIT1_uc001cee.2_Non-coding_Transcript|TRIT1_uc001cef.2_Non-coding_Transcript|TRIT1_uc001ceg.2_5'UTR|TRIT1_uc001ceh.2_5'UTR|TRIT1_uc009vvv.1_Nonsense_Mutation_p.E53*	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	194					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.488	168.354598	168.370709	61	64	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Nonsense_Mutation	SNP	40088501	40088501	17110	1	C	A	A	32	32	TRIT1	A	5	3
MYCL1	4610	broad.mit.edu	36	1	40135956	40135956	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40135956G>A	uc001cer.1	-	c.770C>T	c.(769-771)CCC>CTC	p.P257L	MYCL1_uc001ces.1_Missense_Mutation_p.P257L	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	257					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)								45				0.401361	322.128959	324.64307	118	176	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Missense_Mutation	SNP	40135956	40135956	10415	1	G	A	A	43	43	MYCL1	A	2	2
MFSD2A	84879	broad.mit.edu	36	1	40206618	40206618	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40206618G>A	uc001cev.1	+	c.1273G>A	c.(1273-1275)GAC>AAC	p.D425N	MFSD2A_uc001ceu.1_Missense_Mutation_p.D412N|MFSD2A_uc009vvy.1_Non-coding_Transcript|MFSD2A_uc001cex.1_Missense_Mutation_p.D76N	NM_032793	NP_116182	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	425					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2										141				0.181818	39.98375	51.489848	22	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40206618	40206618	9920	1	G	A	A	37	37	MFSD2A	A	1	1
RLF	6018	broad.mit.edu	36	1	40440737	40440737	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40440737C>T	uc001cfc.2	+	c.674C>T	c.(673-675)TCT>TTT	p.S225F		NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	225					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription activator activity|zinc ion binding			ovary(2)|pancreas(1)	3	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)												0.347826	112.461188	114.81358	40	75	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		Missense_Mutation	SNP	40440737	40440737	13866	1	C	T	T	32	32	RLF	T	2	2
RLF	6018	broad.mit.edu	36	1	40475319	40475319	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40475319A>G	uc001cfc.2	+	c.2358A>G	c.(2356-2358)GGA>GGG	p.G786G	RLF_uc001cfd.2_Silent_p.G477G	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	786	C2H2-type 5.				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription activator activity|zinc ion binding			ovary(2)|pancreas(1)	3	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)												0.1875	100.315748	120.823633	42	182	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		Silent	SNP	40475319	40475319	13866	1	A	G	G	10	10	RLF	G	4	4
RLF	6018	broad.mit.edu	36	1	40477719	40477719	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40477719G>T	uc001cfc.2	+	c.4758G>T	c.(4756-4758)GAG>GAT	p.E1586D	RLF_uc001cfd.2_Missense_Mutation_p.E1277D	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1586					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription activator activity|zinc ion binding			ovary(2)|pancreas(1)	3	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)												0.203822	60.899131	73.696985	32	125	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		Missense_Mutation	SNP	40477719	40477719	13866	1	G	T	T	33	33	RLF	T	3	3
ZMPSTE24	10269	broad.mit.edu	36	1	40519766	40519766	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40519766G>T	uc001cfg.1	+	c.934G>T	c.(934-936)GAA>TAA	p.E312*		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metalloproteinase STE24	312						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.421488	133.802362	134.452774	51	70	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		Nonsense_Mutation	SNP	40519766	40519766	18289	1	G	T	T	33	33	ZMPSTE24	T	5	3
SMAP2	64744	broad.mit.edu	36	1	40645001	40645001	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40645001G>A	uc001cfj.1	+	c.110G>A	c.(109-111)CGA>CAA	p.R37Q	SMAP2_uc001cfk.1_Missense_Mutation_p.R7Q	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	37	C4-type.|Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.191304	78.449952	98.960698	44	186	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		Missense_Mutation	SNP	40645001	40645001	15265	1	G	A	A	37	37	SMAP2	A	1	1
SMAP2	64744	broad.mit.edu	36	1	40652484	40652484	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40652484G>T	uc001cfj.1	+	c.556G>T	c.(556-558)GAT>TAT	p.D186Y	SMAP2_uc001cfk.1_Missense_Mutation_p.D156Y	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	186	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.376344	91.093334	92.344594	35	58	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		Missense_Mutation	SNP	40652484	40652484	15265	1	G	T	T	41	41	SMAP2	T	3	3
ZNF642	339559	broad.mit.edu	36	1	40733222	40733222	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40733222G>A	uc001cfo.1	+	c.485G>A	c.(484-486)AGT>AAT	p.S162N	ZNF642_uc009vwb.1_Missense_Mutation_p.S162N	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.408377	230.206921	231.609666	78	113	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		Missense_Mutation	SNP	40733222	40733222	18653	1	G	A	A	36	36	ZNF642	A	2	2
DEM1	64789	broad.mit.edu	36	1	40753388	40753388	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40753388G>A	uc001cfp.1	+	c.585G>A	c.(583-585)GCG>GCA	p.A195A	DEM1_uc001cfq.1_Silent_p.A195A|DEM1_uc001cfr.1_Silent_p.A195A|DEM1_uc001cfs.1_Silent_p.A195A|DEM1_uc009vwc.1_Silent_p.A195A	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	195							DNA binding|exonuclease activity				0														0.345679	237.130489	242.238366	84	159	GG		KEEP	---	---	---	---	capture			Silent	SNP	40753388	40753388	4604	1	G	A	A	39	39	DEM1	A	1	1
DEM1	64789	broad.mit.edu	36	1	40753884	40753884	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40753884C>T	uc001cfp.1	+	c.1081C>T	c.(1081-1083)CTC>TTC	p.L361F	DEM1_uc001cfq.1_Missense_Mutation_p.L361F|DEM1_uc001cfr.1_Missense_Mutation_p.L361F|DEM1_uc001cfs.1_Missense_Mutation_p.L361F|DEM1_uc009vwc.1_Missense_Mutation_p.L361F	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	361							DNA binding|exonuclease activity				0														0.417582	110.029948	110.570414	38	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40753884	40753884	4604	1	C	T	T	28	28	DEM1	T	2	2
NFYC	4802	broad.mit.edu	36	1	40991463	40991463	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:40991463C>T	uc001cge.2	+	c.345C>T	c.(343-345)ATC>ATT	p.I115I	NFYC_uc001cfz.2_Silent_p.I115I|NFYC_uc009vwd.1_Silent_p.I115I|NFYC_uc001cfx.2_Silent_p.I115I|NFYC_uc001cfy.2_Silent_p.I115I|NFYC_uc001cgb.2_Silent_p.I115I|NFYC_uc001cgc.1_Silent_p.I115I|NFYC_uc001cgd.2_Silent_p.I115I|MIR30E_hsa-mir-30e|MI0000749_5'Flank	NM_014223	NP_055038	Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma isoform 2	115					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|kidney(1)	3	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.43617	118.563336	118.896548	41	53	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		Silent	SNP	40991463	40991463	10791	1	C	T	T	31	31	NFYC	T	1	1
NFYC	4802	broad.mit.edu	36	1	41008964	41008964	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41008964G>A	uc001cge.2	+	c.1254G>A	c.(1252-1254)TCG>TCA	p.S418S	NFYC_uc001cfz.2_Intron|NFYC_uc009vwd.1_Intron|NFYC_uc001cfx.2_Intron|NFYC_uc001cfy.2_Intron|NFYC_uc001cgb.2_Silent_p.S399S|NFYC_uc001cgd.2_Intron	NM_014223	NP_055038	Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma isoform 2	418					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|kidney(1)	3	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.391509	217.567491	219.754836	83	129	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		Silent	SNP	41008964	41008964	10791	1	G	A	A	38	38	NFYC	A	1	1
KCNQ4	9132	broad.mit.edu	36	1	41073343	41073343	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41073343G>A	uc001cgh.1	+	c.1731G>A	c.(1729-1731)AAG>AAA	p.K577K	KCNQ4_uc001cgi.1_Silent_p.K523K	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	577	Cytoplasmic.|A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)												0.471861	318.555473	318.714278	109	122	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Silent	SNP	41073343	41073343	8390	1	G	A	A	33	33	KCNQ4	A	2	2
CTPS	1503	broad.mit.edu	36	1	41246960	41246960	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41246960G>A	uc001cgk.2	+	c.1436G>A	c.(1435-1437)CGC>CAC	p.R479H	CTPS_uc001cgl.2_Missense_Mutation_p.R479H|CTPS_uc009vwe.1_Intron	NM_001905	NP_001896	P17812	PYRG1_HUMAN	CTP synthase	479	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)			L-Glutamine(DB00130)									0.193182	56.692251	72.144953	34	142	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41246960	41246960	4181	1	G	A	A	38	38	CTPS	A	1	1
HIVEP3	59269	broad.mit.edu	36	1	41820749	41820749	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41820749T>C	uc001cgz.2	-	c.2307A>G	c.(2305-2307)GGA>GGG	p.G769G	HIVEP3_uc001cha.2_Silent_p.G769G|HIVEP3_uc001cgy.1_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	769	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.160976	58.70763	81.252537	33	172	TT		KEEP	---	---	---	---	capture			Silent	SNP	41820749	41820749	7479	1	T	C	C	58	58	HIVEP3	C	4	4
HIVEP3	59269	broad.mit.edu	36	1	41822047	41822047	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41822047C>A	uc001cgz.2	-	c.1009G>T	c.(1009-1011)GAC>TAC	p.D337Y	HIVEP3_uc001cha.2_Missense_Mutation_p.D337Y|HIVEP3_uc001cgy.1_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	337	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.42492	346.48392	348.030404	133	180	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41822047	41822047	7479	1	C	A	A	32	32	HIVEP3	A	3	3
HIVEP3	59269	broad.mit.edu	36	1	41822388	41822389	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41822388_41822389CC>TT	uc001cgz.2	-	c.667_668GG>AA	c.(667-669)GGC>AAC	p.G223N	HIVEP3_uc001cha.2_Missense_Mutation_p.G223N|HIVEP3_uc001cgy.1_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	223	C2H2-type 2.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|ZAS1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.392045	188.182119	189.961613	69	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	41822388	41822389	7479	1	CC	TT	TT	26	26	HIVEP3	TT	2	2
GUCA2B	2981	broad.mit.edu	36	1	42393111	42393111	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:42393111C>A	uc001chc.1	+	c.264C>A	c.(262-264)ATC>ATA	p.I88I		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	88					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity				0	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.161017	28.440062	41.35623	19	99	CC		KEEP	---	---	---	---	capture			Silent	SNP	42393111	42393111	7172	1	C	A	A	32	32	GUCA2B	A	3	3
GUCA2B	2981	broad.mit.edu	36	1	42393835	42393835	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:42393835C>T	uc001chc.1	+	c.320C>T	c.(319-321)GCG>GTG	p.A107V		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	107					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity				0	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.208791	74.270632	88.552387	38	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42393835	42393835	7172	1	C	T	T	27	27	GUCA2B	T	1	1
FOXJ3	22887	broad.mit.edu	36	1	42427121	42427121	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:42427121C>T	uc001che.1	-	c.1519G>A	c.(1519-1521)GAT>AAT	p.D507N	FOXJ3_uc001chf.1_Missense_Mutation_p.D507N|FOXJ3_uc001chg.1_Missense_Mutation_p.D507N	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	507					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.169231	38.270511	51.735693	22	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42427121	42427121	6259	1	C	T	T	31	31	FOXJ3	T	1	1
CCDC30	728621	broad.mit.edu	36	1	42804666	42804666	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:42804666G>A	uc009vwk.1	+	c.788G>A	c.(787-789)CGA>CAA	p.R263Q	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Missense_Mutation_p.R52Q|CCDC30_uc001chp.2_Missense_Mutation_p.R77Q	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	hypothetical protein LOC728621	263	Potential.										0														0.457746	185.755885	185.976844	65	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42804666	42804666	2927	1	G	A	A	37	37	CCDC30	A	1	1
PPIH	10465	broad.mit.edu	36	1	42904294	42904294	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:42904294C>T	uc001chq.1	+	c.393C>T	c.(391-393)TGC>TGT	p.C131C	PPIH_uc009vwl.1_Silent_p.C88C	NM_006347	NP_006338	O43447	PPIH_HUMAN	peptidylprolyl isomerase H	131	PPIase cyclophilin-type.				nuclear mRNA splicing, via spliceosome|protein complex assembly|protein folding	cytoplasm|nuclear speck|spliceosomal complex|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	NSCLC(73;23 1942 10718 46854)								0.121673	31.531309	68.406973	32	231	CC		KEEP	---	---	---	---	capture			Silent	SNP	42904294	42904294	12760	1	C	T	T	27	27	PPIH	T	1	1
LEPRE1	64175	broad.mit.edu	36	1	42993825	42993825	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:42993825C>T	uc001chx.2	-	c.1151G>A	c.(1150-1152)GGA>GAA	p.G384E	LEPRE1_uc001chv.2_Missense_Mutation_p.G384E|LEPRE1_uc001chw.2_Missense_Mutation_p.G384E	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1	384					negative regulation of cell proliferation|oxidation-reduction process	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.232143	87.743976	98.781131	39	129	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42993825	42993825	9053	1	C	T	T	30	30	LEPRE1	T	2	2
ZNF691	51058	broad.mit.edu	36	1	43089881	43089881	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43089881G>T	uc001cih.1	+	c.746G>T	c.(745-747)AGA>ATA	p.R249I	ZNF691_uc001cig.1_Missense_Mutation_p.R222I|ZNF691_uc001cii.1_Missense_Mutation_p.R242I|ZNF691_uc009vwm.1_Missense_Mutation_p.R222I	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	253						nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.119403	12.502958	31.570148	16	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43089881	43089881	18691	1	G	T	T	33	33	ZNF691	T	3	3
ZNF691	51058	broad.mit.edu	36	1	43090022	43090022	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43090022G>A	uc001cih.1	+	c.887G>A	c.(886-888)CGC>CAC	p.R296H	ZNF691_uc001cig.1_Missense_Mutation_p.R269H|ZNF691_uc001cii.1_Missense_Mutation_p.R289H|ZNF691_uc009vwm.1_Missense_Mutation_p.R269H	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	216	C2H2-type 4.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.258993	80.356222	87.658583	36	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43090022	43090022	18691	1	G	A	A	38	38	ZNF691	A	1	1
SLC2A1	6513	broad.mit.edu	36	1	43165487	43165487	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43165487G>A	uc001cik.2	-	c.1291C>T	c.(1291-1293)CCC>TCC	p.P431S		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	431	Helical; Name=12; (Potential).				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)									0.468085	124.475438	124.56001	44	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43165487	43165487	15035	1	G	A	A	41	41	SLC2A1	A	2	2
C1orf210	149466	broad.mit.edu	36	1	43521348	43521348	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43521348C>T	uc001cit.2	-	c.37G>A	c.(37-39)GAG>AAG	p.E13K		NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	hypothetical protein LOC149466	13	Extracellular (Potential).					integral to membrane					0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.2	29.810277	35.670019	14	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43521348	43521348	2098	1	C	T	T	30	30	C1orf210	T	2	2
TIE1	7075	broad.mit.edu	36	1	43545228	43545228	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43545228C>T	uc001ciu.1	+	c.615C>T	c.(613-615)AGC>AGT	p.S205S	TIE1_uc009vwq.1_Silent_p.S205S	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	205	Extracellular (Potential).				mesoderm development|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			stomach(1)|salivary_gland(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)								488				0.259459	108.031574	117.717552	48	137	CC		KEEP	---	---	---	---	capture			Silent	SNP	43545228	43545228	16421	1	C	T	T	27	27	TIE1	T	1	1
TIE1	7075	broad.mit.edu	36	1	43550311	43550311	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43550311C>T	uc001ciu.1	+	c.1552C>T	c.(1552-1554)CGT>TGT	p.R518C	TIE1_uc009vwq.1_Missense_Mutation_p.R474C	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	518	Extracellular (Potential).|Fibronectin type-III 1.				mesoderm development|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			stomach(1)|salivary_gland(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)								488				0.467836	222.440429	222.587211	80	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43550311	43550311	16421	1	C	T	T	31	31	TIE1	T	1	1
CDC20	991	broad.mit.edu	36	1	43598353	43598353	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43598353A>G	uc001cix.1	+	c.554A>G	c.(553-555)TAT>TGT	p.Y185C	CDC20_uc001ciy.1_Missense_Mutation_p.Y185C	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	185	WD 1.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				Esophageal Squamous(137;1154 1759 10362 10401 46925)								0.450304	736.043416	737.095364	222	271	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43598353	43598353	3187	1	A	G	G	16	16	CDC20	G	4	4
CDC20	991	broad.mit.edu	36	1	43598763	43598763	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43598763G>A	uc001cix.1	+	c.760G>A	c.(760-762)GAT>AAT	p.D254N	CDC20_uc001ciy.1_Missense_Mutation_p.D254N	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	254	WD 2.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				Esophageal Squamous(137;1154 1759 10362 10401 46925)								0.191589	164.093171	202.140489	82	346	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43598763	43598763	3187	1	G	A	A	41	41	CDC20	A	2	2
KIAA0467	23334	broad.mit.edu	36	1	43679490	43679490	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43679490G>A	uc001cjk.1	+	c.4666G>A	c.(4666-4668)GAT>AAT	p.D1556N		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2455						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.489224	659.11436	659.160226	227	237	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43679490	43679490	8485	1	G	A	A	41	41	KIAA0467	A	2	2
KIAA0467	23334	broad.mit.edu	36	1	43685410	43685410	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43685410C>T	uc001cjk.1	+	c.6573C>T	c.(6571-6573)CGC>CGT	p.R2191R	KIAA0467_uc001cjl.1_Silent_p.R179R	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3090						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.166667	10.028729	15.163446	8	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	43685410	43685410	8485	1	C	T	T	25	25	KIAA0467	T	2	2
KIAA0467	23334	broad.mit.edu	36	1	43686948	43686948	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43686948C>T	uc001cjk.1	+	c.7351C>T	c.(7351-7353)CGC>TGC	p.R2451C	KIAA0467_uc001cjl.1_Missense_Mutation_p.R439C	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3350						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.213523	248.362196	291.010949	120	442	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43686948	43686948	8485	1	C	T	T	31	31	KIAA0467	T	1	1
HYI	81888	broad.mit.edu	36	1	43690105	43690105	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43690105G>A	uc001cjo.1	-	c.506C>T	c.(505-507)GCG>GTG	p.A169V	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.1_Missense_Mutation_p.A96V|HYI_uc001cjn.1_Missense_Mutation_p.A169V|HYI_uc001cjp.1_Missense_Mutation_p.A96V	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	169							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.231707	39.380596	44.790769	19	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43690105	43690105	7768	1	G	A	A	38	38	HYI	A	1	1
PTPRF	5792	broad.mit.edu	36	1	43857576	43857576	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43857576C>T	uc001cjr.1	+	c.4677C>T	c.(4675-4677)ATC>ATT	p.I1559I	PTPRF_uc001cjs.1_Silent_p.I1550I|PTPRF_uc001cju.1_Silent_p.I948I|PTPRF_uc009vwt.1_Silent_p.I1119I|PTPRF_uc001cjv.1_Silent_p.I1030I|PTPRF_uc001cjw.1_Silent_p.I785I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1559	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.30137	52.323529	54.895164	22	51	CC		KEEP	---	---	---	---	capture			Silent	SNP	43857576	43857576	13258	1	C	T	T	31	31	PTPRF	T	1	1
ST3GAL3	6487	broad.mit.edu	36	1	44076557	44076557	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44076557G>A	uc001ckb.1	+	c.496G>A	c.(496-498)GCC>ACC	p.A166T	ST3GAL3_uc009vwu.1_Non-coding_Transcript|ST3GAL3_uc001cjz.1_Missense_Mutation_p.A112T|ST3GAL3_uc001cka.1_Missense_Mutation_p.A81T|ST3GAL3_uc001ckc.1_Missense_Mutation_p.A97T|ST3GAL3_uc001ckd.1_Missense_Mutation_p.A151T|ST3GAL3_uc001cke.1_Missense_Mutation_p.A81T|ST3GAL3_uc001ckf.1_Missense_Mutation_p.A135T|ST3GAL3_uc001ckg.1_Missense_Mutation_p.A97T|ST3GAL3_uc001ckh.1_Missense_Mutation_p.A112T|ST3GAL3_uc001cki.1_Missense_Mutation_p.A97T|ST3GAL3_uc001ckj.1_Non-coding_Transcript|ST3GAL3_uc009vwv.1_Missense_Mutation_p.A97T|ST3GAL3_uc009vww.1_Non-coding_Transcript|ST3GAL3_uc009vwx.1_Non-coding_Transcript|ST3GAL3_uc001ckk.1_Intron|ST3GAL3_uc009vwy.1_Missense_Mutation_p.A3T|ST3GAL3_uc009vwz.1_5'UTR|ST3GAL3_uc001ckl.1_Missense_Mutation_p.A97T|ST3GAL3_uc001ckm.1_Missense_Mutation_p.A96T|ST3GAL3_uc001cko.1_Missense_Mutation_p.A81T|ST3GAL3_uc001ckn.1_Non-coding_Transcript|ST3GAL3_uc001ckp.1_Missense_Mutation_p.A96T|ST3GAL3_uc009vxa.1_Intron|ST3GAL3_uc001ckq.1_Missense_Mutation_p.A81T|ST3GAL3_uc001ckr.1_Intron|ST3GAL3_uc009vxb.1_Missense_Mutation_p.A81T	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform a	97	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)												0.427861	453.207093	455.03383	172	230	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44076557	44076557	15734	1	G	A	A	42	42	ST3GAL3	A	2	2
IPO13	9670	broad.mit.edu	36	1	44199494	44199494	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44199494T>G	uc001ckx.1	+	c.2317T>G	c.(2317-2319)TCC>GCC	p.S773A		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	773					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)												0.397059	654.579687	659.6228	216	328	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44199494	44199494	8095	1	T	G	G	54	54	IPO13	G	4	4
DPH2	1802	broad.mit.edu	36	1	44209867	44209867	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44209867C>T	uc001ckz.1	+	c.706C>T	c.(706-708)CGG>TGG	p.R236W	DPH2_uc001cla.1_Intron|DPH2_uc001clb.1_Missense_Mutation_p.R160W	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	236					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)												0.24055	154.636013	172.494405	70	221	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44209867	44209867	4904	1	C	T	T	31	31	DPH2	T	1	1
ATP6V0B	533	broad.mit.edu	36	1	44215400	44215400	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44215400C>A	uc001cld.1	+	c.516C>A	c.(514-516)CTC>CTA	p.L172L	ATP6V0B_uc001clc.2_Silent_p.L172L|ATP6V0B_uc001cle.1_Silent_p.L125L|ATP6V0B_uc001clf.2_Silent_p.L125L|B4GALT2_uc001clg.1_5'Flank|B4GALT2_uc001clh.1_5'Flank	NM_004047	NP_001034546	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	172	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)												0.455224	320.650433	321.125346	122	146	CC		KEEP	---	---	---	---	capture			Silent	SNP	44215400	44215400	1190	1	C	A	A	32	32	ATP6V0B	A	3	3
KLF17	128209	broad.mit.edu	36	1	44368404	44368404	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44368404A>C	uc001clp.1	+	c.874A>C	c.(874-876)AAA>CAA	p.K292Q	KLF17_uc009vxf.1_Missense_Mutation_p.K255Q	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	292	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.429787	320.053063	321.059898	101	134	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44368404	44368404	8657	1	A	C	C	1	1	KLF17	C	4	4
RNF220	55182	broad.mit.edu	36	1	44861029	44861029	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44861029G>A	uc001clv.1	+	c.787G>A	c.(787-789)GCT>ACT	p.A263T	RNF220_uc001clw.1_Missense_Mutation_p.A263T	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	263					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2														0.181818	58.691789	75.437932	32	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44861029	44861029	13961	1	G	A	A	42	42	RNF220	A	2	2
RNF220	55182	broad.mit.edu	36	1	44887930	44887930	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44887930G>T	uc001clv.1	+	c.1456G>T	c.(1456-1458)GAT>TAT	p.D486Y	RNF220_uc001clw.1_Missense_Mutation_p.D486Y|RNF220_uc001clx.1_Missense_Mutation_p.D202Y|RNF220_uc001cly.1_Missense_Mutation_p.D166Y|RNF220_uc001clz.1_Missense_Mutation_p.D165Y|RNF220_uc001cma.1_Missense_Mutation_p.D165Y|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	486	Potential.				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2														0.421053	299.325266	300.778064	112	154	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44887930	44887930	13961	1	G	T	T	33	33	RNF220	T	3	3
TMEM53	79639	broad.mit.edu	36	1	44892973	44892973	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44892973C>A	uc001cmc.1	-	c.679G>T	c.(679-681)GAC>TAC	p.D227Y	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.1_Missense_Mutation_p.D154Y|TMEM53_uc009vxh.1_Missense_Mutation_p.D110Y	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	227						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)													0.413793	216.936797	218.259788	84	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44892973	44892973	16718	1	C	A	A	32	32	TMEM53	A	3	3
TMEM53	79639	broad.mit.edu	36	1	44893109	44893109	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44893109G>A	uc001cmc.1	-	c.543C>T	c.(541-543)GTC>GTT	p.V181V	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.1_Silent_p.V108V|TMEM53_uc009vxh.1_Silent_p.V64V	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	181	Helical; (Potential).					integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)													0.430233	99.775863	100.13686	37	49	GG		KEEP	---	---	---	---	capture			Silent	SNP	44893109	44893109	16718	1	G	A	A	37	37	TMEM53	A	1	1
KIF2C	11004	broad.mit.edu	36	1	45000888	45000888	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45000888G>A	uc001cmg.2	+	c.1942G>A	c.(1942-1944)GCT>ACT	p.A648T	KIF2C_uc001cmh.2_Missense_Mutation_p.A594T	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	648	Potential.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.192857	52.13862	64.476189	27	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45000888	45000888	8610	1	G	A	A	42	42	KIF2C	A	2	2
KIF2C	11004	broad.mit.edu	36	1	45005163	45005163	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45005163G>A	uc001cmg.2	+	c.2050G>A	c.(2050-2052)GAA>AAA	p.E684K	KIF2C_uc001cmh.2_Missense_Mutation_p.E630K	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	684					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.429224	265.823939	266.796172	94	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45005163	45005163	8610	1	G	A	A	41	41	KIF2C	A	2	2
BEST4	266675	broad.mit.edu	36	1	45022962	45022962	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45022962C>T	uc001cmm.1	-	c.1074G>A	c.(1072-1074)CCG>CCA	p.P358P		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	358	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.417582	99.928893	100.468932	38	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	45022962	45022962	1430	1	C	T	T	27	27	BEST4	T	1	1
BEST4	266675	broad.mit.edu	36	1	45023429	45023429	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45023429G>T	uc001cmm.1	-	c.850C>A	c.(850-852)CCG>ACG	p.P284T		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	284	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.425641	221.953229	222.877536	83	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45023429	45023429	1430	1	G	T	T	43	43	BEST4	T	3	3
PLK3	1263	broad.mit.edu	36	1	45041543	45041543	+	Missense_Mutation	SNP	G	A	A	rs11549456	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45041543G>A	uc001cmn.1	+	c.965G>A	c.(964-966)CGA>CAA	p.R322Q	PLK3_uc001cmo.1_Non-coding_Transcript	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	322					protein phosphorylation	membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)									186				0.253333	85.973163	94.265952	38	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45041543	45041543	12523	1	G	A	A	37	37	PLK3	A	1	1
PLK3	1263	broad.mit.edu	36	1	45041916	45041916	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45041916G>A	uc001cmn.1	+	c.1130G>A	c.(1129-1131)CGC>CAC	p.R377H	PLK3_uc001cmo.1_Non-coding_Transcript	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	377					protein phosphorylation	membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)									186				0.21875	26.705802	31.382684	14	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45041916	45041916	12523	1	G	A	A	38	38	PLK3	A	1	1
PLK3	1263	broad.mit.edu	36	1	45043008	45043008	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45043008C>T	uc001cmn.1	+	c.1605C>T	c.(1603-1605)TTC>TTT	p.F535F	PLK3_uc001cmo.1_Intron	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	535	POLO box 1.				protein phosphorylation	membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)									186				0.463265	635.400176	635.970729	227	263	CC		KEEP	---	---	---	---	capture			Silent	SNP	45043008	45043008	12523	1	C	T	T	31	31	PLK3	T	1	1
PTCH2	8643	broad.mit.edu	36	1	45067307	45067307	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45067307G>A	uc001cms.1	-	c.1398C>T	c.(1396-1398)ATC>ATT	p.I466I		NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	466	SSD.|Helical; (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(4)|breast(3)|central_nervous_system(3)|ovary(1)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)									193				0.521739	34.202479	34.212185	12	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	45067307	45067307	13185	1	G	A	A	37	37	PTCH2	A	1	1
PTCH2	8643	broad.mit.edu	36	1	45070015	45070015	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45070015G>A	uc001cms.1	-	c.567C>T	c.(565-567)CTC>CTT	p.L189L		NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	189	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(4)|breast(3)|central_nervous_system(3)|ovary(1)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)									193				0.473684	24.270285	24.281922	9	10	GG		KEEP	---	---	---	---	capture			Silent	SNP	45070015	45070015	13185	1	G	A	A	37	37	PTCH2	A	1	1
EIF2B3	8891	broad.mit.edu	36	1	45119930	45119930	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45119930G>A	uc001cmt.1	-	c.725C>T	c.(724-726)TCA>TTA	p.S242L	EIF2B3_uc001cmu.1_Missense_Mutation_p.S242L|EIF2B3_uc001cmv.1_Missense_Mutation_p.S242L|EIF2B3_uc001cmw.1_Missense_Mutation_p.S242L	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	242					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					Colon(26;357 658 2581 11857 12657)								0.217213	111.42879	129.435897	53	191	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45119930	45119930	5191	1	G	A	A	45	45	EIF2B3	A	2	2
UROD	7389	broad.mit.edu	36	1	45251925	45251925	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45251925G>A	uc001cna.1	+	c.349G>A	c.(349-351)GAC>AAC	p.D117N	HECTD3_uc009vxk.1_5'Flank|UROD_uc009vxl.1_Missense_Mutation_p.G81E|UROD_uc009vxm.1_Missense_Mutation_p.G107E|UROD_uc001cnb.1_Missense_Mutation_p.D82N|UROD_uc001cnc.1_Missense_Mutation_p.D22N	NM_000374	NP_000365	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	117					heme biosynthetic process	cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity				0	Acute lymphoblastic leukemia(166;0.155)													0.246269	74.399807	82.26228	33	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45251925	45251925	17591	1	G	A	A	41	41	UROD	A	2	2
ZSWIM5	57643	broad.mit.edu	36	1	45258331	45258331	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45258331C>A	uc001cnd.2	-	c.2689G>T	c.(2689-2691)GAA>TAA	p.E897*		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	897							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)													0.181818	30.486918	39.909624	18	81	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	45258331	45258331	18848	1	C	A	A	32	32	ZSWIM5	A	5	3
ZSWIM5	57643	broad.mit.edu	36	1	45281533	45281533	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45281533G>A	uc001cnd.2	-	c.1554C>T	c.(1552-1554)TGC>TGT	p.C518C		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	518							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)													0.183206	84.427329	109.13589	48	214	GG		KEEP	---	---	---	---	capture			Silent	SNP	45281533	45281533	18848	1	G	A	A	42	42	ZSWIM5	A	2	2
TESK2	10420	broad.mit.edu	36	1	45660008	45660008	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45660008C>A	uc001cns.1	-	c.320G>T	c.(319-321)AGA>ATA	p.R107I	TESK2_uc009vxr.1_Missense_Mutation_p.R107I|TESK2_uc009vxs.1_5'UTR	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	107	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|protein phosphorylation|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)									192				0.227273	154.619263	177.181261	75	255	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45660008	45660008	16295	1	C	A	A	32	32	TESK2	A	3	3
NASP	4678	broad.mit.edu	36	1	45855821	45855821	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45855821A>G	uc001coh.1	+	c.2263A>G	c.(2263-2265)AAT>GAT	p.N755D	NASP_uc001coi.1_Missense_Mutation_p.N753D|NASP_uc001coj.1_Missense_Mutation_p.N414D|NASP_uc001col.1_Missense_Mutation_p.N261D	NM_172164	NP_751896	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 1	753	Potential.				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)													0.247312	67.394198	72.787318	23	70	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45855821	45855821	10568	1	A	G	G	1	1	NASP	G	4	4
IPP	3652	broad.mit.edu	36	1	45955237	45955237	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45955237C>T	uc001cot.1	-	c.1226G>A	c.(1225-1227)CGA>CAA	p.R409Q	IPP_uc001cos.2_Missense_Mutation_p.R409Q|IPP_uc001cou.1_Missense_Mutation_p.R409Q	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	409	Kelch 3.					actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.25	111.106151	122.017023	48	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45955237	45955237	8101	1	C	T	T	31	31	IPP	T	1	1
IPP	3652	broad.mit.edu	36	1	45979204	45979204	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45979204C>T	uc001cot.1	-	c.680G>A	c.(679-681)CGA>CAA	p.R227Q	IPP_uc001cos.2_Missense_Mutation_p.R227Q|IPP_uc001cou.1_Missense_Mutation_p.R227Q	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	227						actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.1875	80.808273	101.303227	42	182	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45979204	45979204	8101	1	C	T	T	31	31	IPP	T	1	1
MAST2	23139	broad.mit.edu	36	1	46273776	46273776	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46273776C>A	uc001cov.1	+	c.4848C>A	c.(4846-4848)TGC>TGA	p.C1616*	MAST2_uc001cow.1_Nonsense_Mutation_p.C1615*|MAST2_uc001cpa.2_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1616					protein phosphorylation|regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|breast(1)	9	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)									975				0.183673	68.573096	86.991689	36	160	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	46273776	46273776	9709	1	C	A	A	28	28	MAST2	A	5	3
MAST2	23139	broad.mit.edu	36	1	46273865	46273865	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46273865C>A	uc001cov.1	+	c.4937C>A	c.(4936-4938)CCC>CAC	p.P1646H	MAST2_uc001cow.1_Missense_Mutation_p.P1645H|MAST2_uc001cpa.2_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1646					protein phosphorylation|regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|breast(1)	9	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)									975				0.236715	103.866291	116.988722	49	158	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46273865	46273865	9709	1	C	A	A	22	22	MAST2	A	3	3
POMGNT1	55624	broad.mit.edu	36	1	46433212	46433212	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46433212G>T	uc001cpe.1	-	c.543C>A	c.(541-543)GGC>GGA	p.G181G	POMGNT1_uc001cpf.1_Intron|POMGNT1_uc001cpg.1_Silent_p.G181G|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	181	Lumenal (Potential).				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.26556	148.240509	160.25655	64	177	GG		KEEP	---	---	---	---	capture			Silent	SNP	46433212	46433212	12672	1	G	T	T	34	34	POMGNT1	T	3	3
RAD54L	8438	broad.mit.edu	36	1	46511061	46511061	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46511061C>T	uc009vye.1	+	c.1375C>T	c.(1375-1377)CAT>TAT	p.H459Y	RAD54L_uc001cpl.1_Missense_Mutation_p.H459Y|RAD54L_uc001cpm.1_Missense_Mutation_p.R279C	NM_003579	NP_003570	Q92698	RAD54_HUMAN	RAD54-like protein	459					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)												0.434783	195.22071	195.818129	70	91	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	Missense_Mutation	SNP	46511061	46511061	13453	1	C	T	T	31	31	RAD54L	T	1	1
LRRC41	10489	broad.mit.edu	36	1	46519474	46519474	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46519474G>A	uc001cpn.1	-	c.1666C>T	c.(1666-1668)CGT>TGT	p.R556C		NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	556										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)													0.401408	154.049203	155.254528	57	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46519474	46519474	9374	1	G	A	A	37	37	LRRC41	A	1	1
DMBX1	127343	broad.mit.edu	36	1	46749350	46749350	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46749350C>T	uc001cpx.1	+	c.505C>T	c.(505-507)CGT>TGT	p.R169C	DMBX1_uc001cpw.1_Missense_Mutation_p.R164C	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	169					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.167347	63.668206	89.339389	41	204	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46749350	46749350	4758	1	C	T	T	19	19	DMBX1	T	1	1
MOBKL2C	148932	broad.mit.edu	36	1	46851345	46851345	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46851345G>A	uc001cqe.2	-	c.392C>T	c.(391-393)GCG>GTG	p.A131V	MOBKL2C_uc001cqf.2_Missense_Mutation_p.A79V	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	MOB1, Mps One Binder kinase activator-like 2C	79							metal ion binding			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.213675	47.501646	56.378469	25	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46851345	46851345	10077	1	G	A	A	38	38	MOBKL2C	A	1	1
AJAP1	55966	broad.mit.edu	36	1	4734363	4734363	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:4734363C>T	uc001alm.1	+	c.1180C>T	c.(1180-1182)CGG>TGG	p.R394W	AJAP1_uc001aln.1_Missense_Mutation_p.R394W	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	394	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)												0.406977	193.206493	194.509706	70	102	CC		KEEP	---	---	---	---	capture		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	Missense_Mutation	SNP	4734363	4734363	441	1	C	T	T	31	31	AJAP1	T	1	1
CYP4Z1	199974	broad.mit.edu	36	1	47344486	47344486	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47344486C>T	uc001cqu.1	+	c.1167C>T	c.(1165-1167)CCC>CCT	p.P389P		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	389	Lumenal (Potential).				oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding				0														0.183007	100.185241	129.099547	56	250	CC		KEEP	---	---	---	---	capture			Silent	SNP	47344486	47344486	4359	1	C	T	T	21	21	CYP4Z1	T	2	2
CYP4A22	284541	broad.mit.edu	36	1	47381649	47381649	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47381649A>G	uc001cqv.1	+	c.632A>G	c.(631-633)GAC>GGC	p.D211G	CYP4A22_uc009vyo.1_Missense_Mutation_p.D211G|CYP4A22_uc009vyp.1_Missense_Mutation_p.D211G	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	211					oxidation-reduction process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			ovary(1)|breast(1)	2						Pancreas(88;1240 1470 2099 14214 37557)								0.218182	91.207151	103.300645	36	129	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47381649	47381649	4349	1	A	G	G	10	10	CYP4A22	G	4	4
CYP4A22	284541	broad.mit.edu	36	1	47382685	47382685	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47382685G>T	uc001cqv.1	+	c.860G>T	c.(859-861)AGG>ATG	p.R287M	CYP4A22_uc009vyo.1_Missense_Mutation_p.R287M|CYP4A22_uc009vyp.1_Missense_Mutation_p.E235D	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	287					oxidation-reduction process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			ovary(1)|breast(1)	2						Pancreas(88;1240 1470 2099 14214 37557)								0.154762	77.363168	115.659946	52	284	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47382685	47382685	4349	1	G	T	T	35	35	CYP4A22	T	3	3
STIL	6491	broad.mit.edu	36	1	47508021	47508021	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47508021C>T	uc001crd.1	-	c.2488G>A	c.(2488-2490)GAT>AAT	p.D830N	TAL1_uc001crb.1_Intron|STIL_uc001crc.1_Missense_Mutation_p.D830N|STIL_uc001cre.1_Missense_Mutation_p.D830N|STIL_uc001crf.1_Missense_Mutation_p.D443N|STIL_uc001crg.1_Missense_Mutation_p.D783N	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 1	830					cell proliferation|multicellular organismal development	cytosol					0		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)								992				0.220408	114.71339	132.354904	54	191	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47508021	47508021	15802	1	C	T	T	31	31	STIL	T	1	1
STIL	6491	broad.mit.edu	36	1	47543253	47543253	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47543253A>C	uc001crd.1	-	c.47T>G	c.(46-48)TTT>TGT	p.F16C	TAL1_uc001crb.1_Intron|STIL_uc001crc.1_Missense_Mutation_p.F16C|STIL_uc001cre.1_Missense_Mutation_p.F16C|STIL_uc001crg.1_Missense_Mutation_p.F16C	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 1	16					cell proliferation|multicellular organismal development	cytosol					0		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)								992				0.375	100.536526	101.631619	30	50	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47543253	47543253	15802	1	A	C	C	1	1	STIL	C	4	4
ELAVL4	1996	broad.mit.edu	36	1	50432147	50432147	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:50432147A>G	uc001csa.2	+	c.529A>G	c.(529-531)ACC>GCC	p.T177A	ELAVL4_uc001cry.2_Missense_Mutation_p.T163A|ELAVL4_uc001crz.2_Missense_Mutation_p.T160A|ELAVL4_uc001csc.2_Missense_Mutation_p.T160A|ELAVL4_uc001csb.1_Missense_Mutation_p.T160A|ELAVL4_uc009vyu.1_Missense_Mutation_p.T165A	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	160	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2														0.185535	130.377064	159.823716	59	259	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50432147	50432147	5243	1	A	G	G	6	6	ELAVL4	G	4	4
FAF1	11124	broad.mit.edu	36	1	51198068	51198068	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:51198068C>T	uc009vyx.1	-	c.4G>A	c.(4-6)GCG>ACG	p.A2T	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc001cse.1_Missense_Mutation_p.A2T	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	2					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(5)		ovary(1)|pancreas(1)	2														0.470085	151.61499	151.704644	55	62	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	Missense_Mutation	SNP	51198068	51198068	5566	1	C	T	T	26	26	FAF1	T	2	2
CDKN2C	1031	broad.mit.edu	36	1	51212225	51212225	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:51212225C>T	uc001csf.1	+	c.202C>T	c.(202-204)CGA>TGA	p.R68*	CDKN2C_uc001csg.1_Nonsense_Mutation_p.R68*	NM_001262	NP_523240	P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C	68					cell cycle arrest|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|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(6)|p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17						Melanoma(47;50 1155 4767 22863 47597)				40				0.229268	106.588999	120.320337	47	158	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	Nonsense_Mutation	SNP	51212225	51212225	3294	1	C	T	T	23	23	CDKN2C	T	5	1
EPS15	2060	broad.mit.edu	36	1	51685305	51685305	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:51685305C>T	uc001csq.1	-	c.712G>A	c.(712-714)GAT>AAT	p.D238N	EPS15_uc009vyz.1_Missense_Mutation_p.D238N	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	238	EH 3.|EF-hand 2.|2.				cell proliferation|clathrin coat assembly|endocytic recycling|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			kidney(1)	1										562				0.431818	287.183194	288.076556	95	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51685305	51685305	5385	1	C	T	T	32	32	EPS15	T	2	2
NRD1	4898	broad.mit.edu	36	1	52029232	52029232	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52029232C>A	uc001ctc.2	-	c.3183G>T	c.(3181-3183)AAG>AAT	p.K1061N	NRD1_uc009vzb.1_Missense_Mutation_p.K756N|NRD1_uc001ctd.2_Missense_Mutation_p.K993N|NRD1_uc001cte.2_Missense_Mutation_p.K929N	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	992					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0														0.395604	94.370339	95.241271	36	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52029232	52029232	11050	1	C	A	A	32	32	NRD1	A	3	3
NRD1	4898	broad.mit.edu	36	1	52029897	52029897	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52029897C>T	uc001ctc.2	-	c.3105G>A	c.(3103-3105)AGG>AGA	p.R1035R	NRD1_uc009vzb.1_Silent_p.R730R|NRD1_uc001ctd.2_Silent_p.R967R|NRD1_uc001cte.2_Silent_p.R903R|NRD1_uc001ctf.2_Silent_p.R967R	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	966					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0														0.211618	109.794634	128.326962	51	190	CC		KEEP	---	---	---	---	capture			Silent	SNP	52029897	52029897	11050	1	C	T	T	30	30	NRD1	T	2	2
NRD1	4898	broad.mit.edu	36	1	52052811	52052811	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52052811C>A	uc001ctc.2	-	c.1823G>T	c.(1822-1824)AGA>ATA	p.R608I	NRD1_uc009vzb.1_Missense_Mutation_p.R303I|NRD1_uc001ctd.2_Missense_Mutation_p.R540I|NRD1_uc001cte.2_Missense_Mutation_p.R476I|NRD1_uc001ctf.2_Missense_Mutation_p.R540I|NRD1_uc009vzc.1_3'UTR	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	539					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0														0.152709	43.776662	67.24246	31	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52052811	52052811	11050	1	C	A	A	24	24	NRD1	A	3	3
KTI12	112970	broad.mit.edu	36	1	52271466	52271466	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52271466C>T	uc001ctj.1	-	c.556G>A	c.(556-558)GCT>ACT	p.A186T	TXNDC12_uc001cti.1_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated	186							ATP binding			central_nervous_system(2)	2														0.197531	96.656568	117.368201	48	195	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52271466	52271466	8907	1	C	T	T	28	28	KTI12	T	2	2
ZFYVE9	9372	broad.mit.edu	36	1	52476298	52476298	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52476298G>A	uc001cto.1	+	c.621G>A	c.(619-621)ATG>ATA	p.M207I	ZFYVE9_uc001ctn.1_Missense_Mutation_p.M207I|ZFYVE9_uc001ctp.1_Missense_Mutation_p.M207I	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	207					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor complex assembly	early endosome membrane	protein binding|receptor activity|serine-type peptidase activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(2)	6										498				0.190722	71.565555	88.91135	37	157	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52476298	52476298	18261	1	G	A	A	45	45	ZFYVE9	A	2	2
ZFYVE9	9372	broad.mit.edu	36	1	52576072	52576072	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52576072C>A	uc001cto.1	+	c.3711C>A	c.(3709-3711)TCC>TCA	p.S1237S	ZFYVE9_uc001ctp.1_Silent_p.S1178S	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1237					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor complex assembly	early endosome membrane	protein binding|receptor activity|serine-type peptidase activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(2)	6										498				0.189189	37.900901	47.943347	21	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	52576072	52576072	18261	1	C	A	A	24	24	ZFYVE9	A	3	3
ZCCHC11	23318	broad.mit.edu	36	1	52669378	52669378	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52669378G>A	uc001cty.2	-	c.4606C>T	c.(4606-4608)CCT>TCT	p.P1536S	ZCCHC11_uc001ctx.2_Missense_Mutation_p.P1535S|ZCCHC11_uc001ctz.2_Missense_Mutation_p.P1531S|ZCCHC11_uc001cua.1_Missense_Mutation_p.P453S	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1535	Pro-rich.				miRNA catabolic process|pre-microRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2														0.446429	136.128749	136.408774	50	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52669378	52669378	18168	1	G	A	A	42	42	ZCCHC11	A	2	2
ZCCHC11	23318	broad.mit.edu	36	1	52675136	52675136	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52675136G>A	uc001cty.2	-	c.4041C>T	c.(4039-4041)CAC>CAT	p.H1347H	ZCCHC11_uc001ctx.2_Silent_p.H1346H|ZCCHC11_uc001ctz.2_Silent_p.H1342H|ZCCHC11_uc001cua.1_Silent_p.H264H	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1346					miRNA catabolic process|pre-microRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2														0.482014	556.206074	556.325131	201	216	GG		KEEP	---	---	---	---	capture			Silent	SNP	52675136	52675136	18168	1	G	A	A	40	40	ZCCHC11	A	1	1
ZCCHC11	23318	broad.mit.edu	36	1	52676499	52676499	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52676499C>A	uc001cty.2	-	c.3919G>T	c.(3919-3921)GAC>TAC	p.D1307Y	ZCCHC11_uc001ctx.2_Missense_Mutation_p.D1307Y|ZCCHC11_uc001ctz.2_Missense_Mutation_p.D1307Y|ZCCHC11_uc001cua.1_Missense_Mutation_p.D224Y|ZCCHC11_uc009vze.1_Missense_Mutation_p.D1307Y	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1307	CCHC-type 2.				miRNA catabolic process|pre-microRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2														0.386486	363.289838	367.483245	143	227	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52676499	52676499	18168	1	C	A	A	32	32	ZCCHC11	A	3	3
C1orf163	65260	broad.mit.edu	36	1	52931087	52931087	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52931087C>A	uc001cui.1	-	c.147G>T	c.(145-147)AAG>AAT	p.K49N		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	hypothetical protein LOC65260	49	Sel1-like 1.						binding				0														0.155844	33.790201	51.223945	24	130	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52931087	52931087	2078	1	C	A	A	32	32	C1orf163	A	3	3
ZYG11B	79699	broad.mit.edu	36	1	53009894	53009894	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:53009894C>A	uc001cuj.1	+	c.811C>A	c.(811-813)CTG>ATG	p.L271M	ZYG11B_uc009vzg.1_Non-coding_Transcript	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	271							protein binding			ovary(1)|pancreas(1)	2														0.20098	75.84148	92.817844	41	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53009894	53009894	18859	1	C	A	A	32	32	ZYG11B	A	3	3
ZYG11B	79699	broad.mit.edu	36	1	53059779	53059779	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:53059779C>T	uc001cuj.1	+	c.2125C>T	c.(2125-2127)CCC>TCC	p.P709S	ZYG11B_uc009vzh.1_Missense_Mutation_p.P131S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	709							protein binding			ovary(1)|pancreas(1)	2														0.227642	63.641309	72.010972	28	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53059779	53059779	18859	1	C	T	T	30	30	ZYG11B	T	2	2
ECHDC2	55268	broad.mit.edu	36	1	53144778	53144778	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:53144778C>T	uc001cup.2	-	c.457_splice	c.e5+1	p.A153_splice	ECHDC2_uc001cun.2_Intron|ECHDC2_uc001cuo.2_Intron	NM_018281	NP_060751			enoyl Coenzyme A hydratase domain containing 2						fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1														0.236842	17.852861	20.261644	9	29	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	53144778	53144778	5081	1	C	T	T	18	18	ECHDC2	T	5	2
PODN	127435	broad.mit.edu	36	1	53319101	53319101	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:53319101C>T	uc001cuv.1	+	c.1770C>T	c.(1768-1770)TTC>TTT	p.F590F	PODN_uc001cuw.1_Silent_p.F571F	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	542	LRR 18.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2														0.466258	214.577955	214.739938	76	87	CC		KEEP	---	---	---	---	capture			Silent	SNP	53319101	53319101	12606	1	C	T	T	31	31	PODN	T	1	1
LRP8	7804	broad.mit.edu	36	1	53487780	53487780	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:53487780G>A	uc001cvi.1	-	c.2713C>T	c.(2713-2715)CCC>TCC	p.P905S	LRP8_uc001cvh.1_Intron|LRP8_uc001cvk.1_Missense_Mutation_p.P735S|LRP8_uc001cvj.1_Intron|LRP8_uc001cvl.1_Intron	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	905	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola|integral to membrane	apolipoprotein E binding|calcium ion binding|very-low-density lipoprotein particle receptor activity				0														0.384615	51.284027	51.892025	20	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53487780	53487780	9336	1	G	A	A	42	42	LRP8	A	2	2
DMRTB1	63948	broad.mit.edu	36	1	53697850	53697850	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:53697850C>T	uc001cvq.1	+	c.136C>T	c.(136-138)CGC>TGC	p.R46C		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	46	DM.				regulation of transcription, DNA-dependent|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0														0.407407	29.719931	29.92204	11	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53697850	53697850	4770	1	C	T	T	27	27	DMRTB1	T	1	1
LRRC42	115353	broad.mit.edu	36	1	54196479	54196479	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54196479C>A	uc001cwj.1	+	c.543C>A	c.(541-543)TCC>TCA	p.S181S	LRRC42_uc001cwl.1_Silent_p.S181S|LRRC42_uc001cwk.1_Silent_p.S181S|LRRC42_uc009vzm.1_Silent_p.S181S	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	181	LRR 2.										0														0.205405	76.634063	91.537607	38	147	CC		KEEP	---	---	---	---	capture			Silent	SNP	54196479	54196479	9375	1	C	A	A	24	24	LRRC42	A	3	3
LDLRAD1	388633	broad.mit.edu	36	1	54247258	54247258	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54247258G>A	uc001cwm.1	-	c.603C>T	c.(601-603)GCC>GCT	p.A201A	LDLRAD1_uc009vzn.1_Non-coding_Transcript	NM_001010978	NP_001010978	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain	201	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(1)	1														0.16208	103.027295	138.488247	53	274	GG		KEEP	---	---	---	---	capture			Silent	SNP	54247258	54247258	9029	1	G	A	A	35	35	LDLRAD1	A	2	2
TMEM59	9528	broad.mit.edu	36	1	54284000	54284000	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54284000G>A	uc001cwq.1	-	c.343C>T	c.(343-345)CTT>TTT	p.L115F	TMEM59_uc001cwn.1_5'Flank|TMEM59_uc001cwo.1_5'UTR|TMEM59_uc001cwp.1_Missense_Mutation_p.L115F|TMEM59_uc001cwr.1_Intron|TMEM59_uc001cws.1_Missense_Mutation_p.L126F	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	thymic dendritic cell-derived factor 1	115	Extracellular (Potential).					Golgi membrane|integral to membrane					0														0.405063	275.640183	277.510313	96	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54284000	54284000	16724	1	G	A	A	33	33	TMEM59	A	2	2
C1orf83	127428	broad.mit.edu	36	1	54334704	54334704	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54334704C>T	uc001cwt.1	+	c.597C>T	c.(595-597)GTC>GTT	p.V199V	C1orf83_uc001cwu.1_Non-coding_Transcript	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN	hypothetical protein LOC127428	199	TFIIS central.					nucleus	DNA binding|transcription regulator activity				0														0.409091	146.227174	147.178819	54	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	54334704	54334704	2136	1	C	T	T	31	31	C1orf83	T	1	1
SSBP3	23648	broad.mit.edu	36	1	54479203	54479203	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54479203G>A	uc001cxe.1	-	c.819C>T	c.(817-819)GGC>GGT	p.G273G	SSBP3_uc001cxf.1_Silent_p.G253G|SSBP3_uc001cxg.1_Silent_p.G246G	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	273	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding|transcription regulator activity				0														0.154341	61.423535	96.958056	48	263	GG		KEEP	---	---	---	---	capture			Silent	SNP	54479203	54479203	15696	1	G	A	A	38	38	SSBP3	A	1	1
FAM151A	338094	broad.mit.edu	36	1	54854311	54854311	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54854311G>A	uc001cxn.1	-	c.385C>T	c.(385-387)CTG>TTG	p.L129L	ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	129						integral to membrane					0														0.43	130.607185	131.03504	43	57	GG		KEEP	---	---	---	---	capture			Silent	SNP	54854311	54854311	5656	1	G	A	A	34	34	FAM151A	A	2	2
C1orf175	374977	broad.mit.edu	36	1	54892030	54892030	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54892030C>T	uc001cxp.1	+	c.843C>T	c.(841-843)AGC>AGT	p.S281S	C1orf175_uc001cxq.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc001cxs.1_Non-coding_Transcript|C1orf175_uc001cxt.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Non-coding_Transcript|C1orf175_uc001cxo.1_Silent_p.S281S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	281	Ser-rich.					integral to membrane	binding				0														0.420455	188.404585	189.378279	74	102	CC		KEEP	---	---	---	---	capture			Silent	SNP	54892030	54892030	2083	1	C	T	T	27	27	C1orf175	T	1	1
C1orf175	374977	broad.mit.edu	36	1	54909149	54909149	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54909149G>T	uc001cxp.1	+	c.1558G>T	c.(1558-1560)GCG>TCG	p.A520S	C1orf175_uc001cxq.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc001cxs.1_Non-coding_Transcript|C1orf175_uc001cxt.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	520						integral to membrane	binding				0														0.302326	32.356332	33.857888	13	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54909149	54909149	2083	1	G	T	T	42	42	C1orf175	T	3	3
PARS2	25973	broad.mit.edu	36	1	54996916	54996916	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54996916C>A	uc001cxy.1	-	c.507G>T	c.(505-507)CAG>CAT	p.Q169H	PARS2_uc009vzs.1_Missense_Mutation_p.Q169H	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase	169					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			ovary(2)	2					L-Proline(DB00172)									0.184322	141.57413	185.812682	87	385	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54996916	54996916	11884	1	C	A	A	32	32	PARS2	A	3	3
PARS2	25973	broad.mit.edu	36	1	54997395	54997395	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54997395C>A	uc001cxy.1	-	c.28G>T	c.(28-30)GCA>TCA	p.A10S	PARS2_uc009vzs.1_Missense_Mutation_p.A10S	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase	10					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			ovary(2)	2					L-Proline(DB00172)									0.486486	47.139985	47.14611	18	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54997395	54997395	11884	1	C	A	A	28	28	PARS2	A	3	3
TTC22	55001	broad.mit.edu	36	1	55024261	55024261	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55024261A>G	uc009vzt.1	-	c.1003T>C	c.(1003-1005)TAC>CAC	p.Y335H	TTC22_uc001cxz.2_Missense_Mutation_p.Y335H	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	335							binding				0														0.245283	35.754411	38.882528	13	40	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55024261	55024261	17243	1	A	G	G	14	14	TTC22	G	4	4
DHCR24	1718	broad.mit.edu	36	1	55109620	55109620	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55109620C>T	uc001cyc.1	-	c.867G>A	c.(865-867)GAG>GAA	p.E289E		NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	289					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|oxidation-reduction process|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						Pancreas(39;516 1021 24601 30715 32780)								0.276316	51.438166	54.864317	21	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	55109620	55109620	4655	1	C	T	T	28	28	DHCR24	T	2	2
DHCR24	1718	broad.mit.edu	36	1	55113470	55113470	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55113470C>T	uc001cyc.1	-	c.496G>A	c.(496-498)GGC>AGC	p.G166S		NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	166	FAD-binding PCMH-type.|FAD (Potential).				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|oxidation-reduction process|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						Pancreas(39;516 1021 24601 30715 32780)								0.12037	28.189915	58.749564	26	190	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55113470	55113470	4655	1	C	T	T	22	22	DHCR24	T	2	2
USP24	23358	broad.mit.edu	36	1	55327997	55327997	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55327997C>T	uc001cyg.2	-	c.6079G>A	c.(6079-6081)GAT>AAT	p.D2027N		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	2187					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13														0.315789	13.138746	13.71478	6	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55327997	55327997	17618	1	C	T	T	29	29	USP24	T	2	2
USP24	23358	broad.mit.edu	36	1	55335410	55335410	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55335410C>A	uc001cyg.2	-	c.5259G>T	c.(5257-5259)GAG>GAT	p.E1753D		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1913					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13														0.27381	54.583049	58.459033	23	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55335410	55335410	17618	1	C	A	A	28	28	USP24	A	3	3
USP24	23358	broad.mit.edu	36	1	55336338	55336338	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55336338G>A	uc001cyg.2	-	c.4981C>T	c.(4981-4983)CGT>TGT	p.R1661C		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1821					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13														0.42029	76.055266	76.439373	29	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55336338	55336338	17618	1	G	A	A	38	38	USP24	A	1	1
USP24	23358	broad.mit.edu	36	1	55362781	55362781	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55362781C>T	uc001cyg.2	-	c.3589G>A	c.(3589-3591)GAA>AAA	p.E1197K		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1357					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13														0.45283	70.091511	70.194519	24	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55362781	55362781	17618	1	C	T	T	32	32	USP24	T	2	2
USP24	23358	broad.mit.edu	36	1	55379976	55379976	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55379976A>C	uc001cyg.2	-	c.2171T>G	c.(2170-2172)CTT>CGT	p.L724R		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	884					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13														0.575	66.12251	66.317584	23	17	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55379976	55379976	17618	1	A	C	C	3	3	USP24	C	4	4
PRKAA2	5563	broad.mit.edu	36	1	56942609	56942609	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:56942609C>T	uc001cyk.2	+	c.1166C>T	c.(1165-1167)ACG>ATG	p.T389M		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	389					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|protein phosphorylation|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										168				0.213836	67.061194	79.093075	34	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56942609	56942609	12937	1	C	T	T	19	19	PRKAA2	T	1	1
C8A	731	broad.mit.edu	36	1	57114334	57114334	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:57114334A>C	uc001cyo.1	+	c.328A>C	c.(328-330)AAA>CAA	p.K110Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	110	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)	2														0.172043	31.514492	41.023123	16	77	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57114334	57114334	2525	1	A	C	C	9	9	C8A	C	4	4
C8B	732	broad.mit.edu	36	1	57204187	57204187	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:57204187G>T	uc001cyp.1	-	c.23C>A	c.(22-24)GCT>GAT	p.A8D		NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	8					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4														0.151515	56.362124	83.242037	35	196	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57204187	57204187	2526	1	G	T	T	34	34	C8B	T	3	3
OMA1	115209	broad.mit.edu	36	1	58774897	58774897	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:58774897A>C	uc001cyy.1	-	c.605T>G	c.(604-606)TTT>TGT	p.F202C	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.F202C|OMA1_uc009vzz.1_Missense_Mutation_p.F202C	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	OMA1 homolog, zinc metallopeptidase	202	Helical; (Potential).				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			large_intestine(1)	1	all_cancers(7;6.54e-05)													0.244898	129.417655	141.02857	48	148	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58774897	58774897	11269	1	A	C	C	1	1	OMA1	C	4	4
OMA1	115209	broad.mit.edu	36	1	58777290	58777290	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:58777290C>A	uc001cyy.1	-	c.265G>T	c.(265-267)GAA>TAA	p.E89*	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Nonsense_Mutation_p.E89*|OMA1_uc009vzz.1_Nonsense_Mutation_p.E89*	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	OMA1 homolog, zinc metallopeptidase	89					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			large_intestine(1)	1	all_cancers(7;6.54e-05)													0.206304	135.977848	163.919258	72	277	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	58777290	58777290	11269	1	C	A	A	30	30	OMA1	A	5	3
TACSTD2	4070	broad.mit.edu	36	1	58814515	58814515	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:58814515C>A	uc001cyz.2	-	c.902G>T	c.(901-903)AGA>ATA	p.R301I		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	301	Cytoplasmic (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)													0.229167	21.595632	24.829061	11	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58814515	58814515	16029	1	C	A	A	32	32	TACSTD2	A	3	3
MYSM1	114803	broad.mit.edu	36	1	58933401	58933401	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:58933401C>A	uc009wab.1	-	c.135G>T	c.(133-135)GAG>GAT	p.E45D	MYSM1_uc001czd.2_Missense_Mutation_p.E45D	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	45					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0	all_cancers(7;9.36e-06)													0.190083	42.345043	53.222275	23	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58933401	58933401	10496	1	C	A	A	32	32	MYSM1	A	3	3
JUN	3725	broad.mit.edu	36	1	59021073	59021073	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:59021073C>T	uc001cze.1	-	c.258G>A	c.(256-258)GGG>GGA	p.G86G		NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	86					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|positive regulation by host of viral transcription|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD 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|transforming growth factor beta receptor signaling pathway		promoter binding|R-SMAD binding|Rho GTPase activator activity|RNA polymerase II transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription activator activity|transcription coactivator activity|transcription factor binding|transcription repressor activity				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)					23				0.473054	445.921176	446.131371	158	176	CC		KEEP	---	---	---	---	capture			Silent	SNP	59021073	59021073	8273	1	C	T	T	26	26	JUN	T	2	2
NPHP4	261734	broad.mit.edu	36	1	5915842	5915842	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:5915842C>T	uc001alq.1	-	c.1254G>A	c.(1252-1254)TCG>TCA	p.S418S	NPHP4_uc001als.1_Non-coding_Transcript|NPHP4_uc009vlt.1_Non-coding_Transcript|NPHP4_uc001alt.1_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	418					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cilium|membrane|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)												0.406667	161.515341	162.663952	61	89	CC		KEEP	---	---	---	---	capture		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	5915842	5915842	10985	1	C	T	T	27	27	NPHP4	T	1	1
FGGY	55277	broad.mit.edu	36	1	59792421	59792421	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:59792421C>A	uc009wac.1	+	c.837C>A	c.(835-837)ATC>ATA	p.I279I	FGGY_uc001czg.2_Silent_p.I167I|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.2_Silent_p.I279I|FGGY_uc001czj.2_Silent_p.I278I|FGGY_uc001czk.2_Silent_p.I167I|FGGY_uc001czl.2_Silent_p.I191I|FGGY_uc001czm.2_De_novo_Start_OutOfFrame	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	279					carbohydrate metabolic process|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)													0.173077	28.87899	39.386174	18	86	CC		KEEP	---	---	---	---	capture			Silent	SNP	59792421	59792421	6108	1	C	A	A	32	32	FGGY	A	3	3
HOOK1	51361	broad.mit.edu	36	1	60086699	60086699	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:60086699C>A	uc009wad.1	+	c.1054C>A	c.(1054-1056)CAT>AAT	p.H352N	HOOK1_uc001czo.1_Missense_Mutation_p.H352N|HOOK1_uc001czp.1_Non-coding_Transcript	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	352	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)													0.234973	100.623731	112.387486	43	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60086699	60086699	7574	1	C	A	A	25	25	HOOK1	A	3	3
C1orf87	127795	broad.mit.edu	36	1	60278401	60278401	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:60278401C>T	uc001czs.1	-	c.523G>A	c.(523-525)GCT>ACT	p.A175T		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	175							calcium ion binding			ovary(1)|breast(1)	2						NSCLC(75;811 1386 4923 13371 51772)								0.456621	276.358857	276.718441	100	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60278401	60278401	2140	1	C	T	T	27	27	C1orf87	T	1	1
C1orf87	127795	broad.mit.edu	36	1	60293692	60293692	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:60293692C>A	uc001czs.1	-	c.114G>T	c.(112-114)GAG>GAT	p.E38D		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	38							calcium ion binding			ovary(1)|breast(1)	2						NSCLC(75;811 1386 4923 13371 51772)								0.191304	79.052575	99.551009	44	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60293692	60293692	2140	1	C	A	A	32	32	C1orf87	A	3	3
KCNAB2	8514	broad.mit.edu	36	1	6081218	6081218	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6081218C>A	uc001aly.1	+	c.1245C>A	c.(1243-1245)TCC>TCA	p.S415S	KCNAB2_uc009vlv.1_Silent_p.S367S|KCNAB2_uc001alv.1_Silent_p.S367S|KCNAB2_uc001alw.1_Silent_p.S353S|KCNAB2_uc001alx.1_Silent_p.S367S|KCNAB2_uc009vlw.1_Silent_p.S300S	NM_172130	NP_742128	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related	367					oxidation-reduction process	cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)												0.22449	21.095724	24.518389	11	38	CC		KEEP	---	---	---	---	capture		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	6081218	6081218	8315	1	C	A	A	24	24	KCNAB2	A	3	3
CHD5	26038	broad.mit.edu	36	1	6111577	6111577	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6111577C>T	uc001amb.1	-	c.3527G>A	c.(3526-3528)GGC>GAC	p.G1176D	CHD5_uc001alz.1_Missense_Mutation_p.G33D|CHD5_uc001ama.1_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript|CHD5_uc009vlx.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1176	Helicase C-terminal.				chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)								2304				0.232558	40.155138	45.791395	20	66	CC		KEEP	---	---	---	---	capture		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	Missense_Mutation	SNP	6111577	6111577	3462	1	C	T	T	26	26	CHD5	T	2	2
CHD5	26038	broad.mit.edu	36	1	6124976	6124976	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6124976C>T	uc001amb.1	-	c.2236_splice	c.e15-1	p.G746_splice	CHD5_uc001ama.1_Splice_Site_SNP|CHD5_uc001amc.1_Splice_Site_SNP	NM_015557	NP_056372			chromodomain helicase DNA binding protein 5						chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)								2304				0.157303	25.610753	35.566952	14	75	CC		KEEP	---	---	---	---	capture		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	Splice_Site_SNP	SNP	6124976	6124976	3462	1	C	T	T	24	24	CHD5	T	5	2
CHD5	26038	broad.mit.edu	36	1	6128897	6128897	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6128897C>A	uc001amb.1	-	c.1764G>T	c.(1762-1764)AAG>AAT	p.K588N	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	588					chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)								2304				0.200935	89.992586	107.79587	43	171	CC		KEEP	---	---	---	---	capture		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	Missense_Mutation	SNP	6128897	6128897	3462	1	C	A	A	28	28	CHD5	A	3	3
CHD5	26038	broad.mit.edu	36	1	6129333	6129333	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6129333G>A	uc001amb.1	-	c.1569C>T	c.(1567-1569)TGC>TGT	p.C523C	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	523	Chromo 1.				chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)								2304				0.21875	46.117739	53.120325	21	75	GG		KEEP	---	---	---	---	capture		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	Silent	SNP	6129333	6129333	3462	1	G	A	A	34	34	CHD5	A	2	2
RNF207	388591	broad.mit.edu	36	1	6190123	6190123	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6190123C>T	uc001amg.1	+	c.289C>T	c.(289-291)CGC>TGC	p.R97C	RNF207_uc001amf.1_Missense_Mutation_p.R97C|RNF207_uc001amh.2_5'Flank|RNF207_uc001amj.1_5'Flank	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	97	B box-type; atypical.					intracellular	zinc ion binding				0	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)												0.259259	16.213796	17.630524	7	20	CC		KEEP	---	---	---	---	capture		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	Missense_Mutation	SNP	6190123	6190123	13952	1	C	T	T	27	27	RNF207	T	1	1
INADL	10207	broad.mit.edu	36	1	62033734	62033734	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62033734T>G	uc001dab.1	+	c.1176T>G	c.(1174-1176)GCT>GCG	p.A392A	INADL_uc009waf.1_Silent_p.A392A|INADL_uc001daa.2_Silent_p.A392A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	392	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.240964	96.313072	106.479325	40	126	TT		KEEP	---	---	---	---	capture			Silent	SNP	62033734	62033734	8032	1	T	G	G	56	56	INADL	G	4	4
INADL	10207	broad.mit.edu	36	1	62065718	62065718	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62065718G>T	uc001dab.1	+	c.1855G>T	c.(1855-1857)GAA>TAA	p.E619*	INADL_uc009waf.1_Nonsense_Mutation_p.E619*|INADL_uc001daa.2_Nonsense_Mutation_p.E619*|INADL_uc001dac.2_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	619	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.491228	461.629657	461.653749	168	174	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	62065718	62065718	8032	1	G	T	T	33	33	INADL	T	5	3
INADL	10207	broad.mit.edu	36	1	62102816	62102816	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62102816G>A	uc001dab.1	+	c.2758G>A	c.(2758-2760)GAG>AAG	p.E920K	INADL_uc009waf.1_Missense_Mutation_p.E920K|INADL_uc001daa.2_Missense_Mutation_p.E920K|INADL_uc001dac.2_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	920					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.20073	109.069235	131.89037	55	219	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62102816	62102816	8032	1	G	A	A	37	37	INADL	A	1	1
GPR153	387509	broad.mit.edu	36	1	6237330	6237330	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6237330C>T	uc001amp.1	-	c.223G>A	c.(223-225)GAC>AAC	p.D75N		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	75	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)												0.449704	194.911593	195.274357	76	93	CC		KEEP	---	---	---	---	capture		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	Missense_Mutation	SNP	6237330	6237330	6934	1	C	T	T	31	31	GPR153	T	1	1
L1TD1	54596	broad.mit.edu	36	1	62445339	62445339	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62445339G>A	uc001dae.2	+	c.451G>A	c.(451-453)GAA>AAA	p.E151K		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	151										ovary(1)	1														0.440678	69.126272	69.309398	26	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62445339	62445339	8912	1	G	A	A	37	37	L1TD1	A	1	1
L1TD1	54596	broad.mit.edu	36	1	62445393	62445393	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62445393G>A	uc001dae.2	+	c.505G>A	c.(505-507)GAA>AAA	p.E169K		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	169										ovary(1)	1														0.25	11.564175	12.701391	5	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62445393	62445393	8912	1	G	A	A	37	37	L1TD1	A	1	1
KANK4	163782	broad.mit.edu	36	1	62485896	62485896	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62485896C>T	uc001dah.2	-	c.2719G>A	c.(2719-2721)GAC>AAC	p.D907N	KANK4_uc001dai.2_Missense_Mutation_p.D279N|KANK4_uc001daf.2_Missense_Mutation_p.D45N|KANK4_uc001dag.2_Missense_Mutation_p.D263N	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	907	ANK 3.									ovary(3)|lung(1)	4														0.187919	51.510996	65.103772	28	121	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62485896	62485896	8283	1	C	T	T	31	31	KANK4	T	1	1
KANK4	163782	broad.mit.edu	36	1	62505066	62505066	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62505066C>A	uc001dah.2	-	c.2245G>T	c.(2245-2247)GAA>TAA	p.E749*	KANK4_uc001dai.2_Nonsense_Mutation_p.E121*|KANK4_uc001dag.2_Nonsense_Mutation_p.E105*	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	749										ovary(3)|lung(1)	4														0.391705	222.505268	224.740241	85	132	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	62505066	62505066	8283	1	C	A	A	32	32	KANK4	A	5	3
KANK4	163782	broad.mit.edu	36	1	62512599	62512599	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62512599C>A	uc001dah.2	-	c.765G>T	c.(763-765)CAG>CAT	p.Q255H	KANK4_uc001dai.2_Intron|KANK4_uc001dag.2_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	255	Pro-rich.									ovary(3)|lung(1)	4														0.4	68.329572	68.900042	26	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62512599	62512599	8283	1	C	A	A	32	32	KANK4	A	3	3
USP1	7398	broad.mit.edu	36	1	62683008	62683008	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62683008C>A	uc001daj.1	+	c.569C>A	c.(568-570)CCT>CAT	p.P190H	USP1_uc001dak.1_Missense_Mutation_p.P190H|USP1_uc001dal.1_Missense_Mutation_p.P190H	NM_001017415	NP_003359	O94782	UBP1_HUMAN	ubiquitin specific protease 1	190					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)				Ovarian(122;1846 2315 3982 19504)								0.221154	98.230235	113.125054	46	162	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	Missense_Mutation	SNP	62683008	62683008	17602	1	C	A	A	24	24	USP1	A	3	3
USP1	7398	broad.mit.edu	36	1	62688606	62688606	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62688606G>T	uc001daj.1	+	c.1724G>T	c.(1723-1725)AGC>ATC	p.S575I	USP1_uc001dak.1_Missense_Mutation_p.S575I|USP1_uc001dal.1_Missense_Mutation_p.S575I	NM_001017415	NP_003359	O94782	UBP1_HUMAN	ubiquitin specific protease 1	575					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)				Ovarian(122;1846 2315 3982 19504)								0.424561	339.00675	340.42583	121	164	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	Missense_Mutation	SNP	62688606	62688606	17602	1	G	T	T	34	34	USP1	T	3	3
DOCK7	85440	broad.mit.edu	36	1	62714115	62714115	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62714115G>A	uc001daq.1	-	c.5779C>T	c.(5779-5781)CTT>TTT	p.L1927F	DOCK7_uc001dap.1_Missense_Mutation_p.L1907F|DOCK7_uc001dam.1_Missense_Mutation_p.L1109F|DOCK7_uc001dan.1_Missense_Mutation_p.L1790F|DOCK7_uc001dao.1_Missense_Mutation_p.L1788F|DOCK7_uc001dar.1_Missense_Mutation_p.L101F	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1938	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.455939	349.965835	350.41029	119	142	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62714115	62714115	4876	1	G	A	A	33	33	DOCK7	A	2	2
DOCK7	85440	broad.mit.edu	36	1	62751976	62751976	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62751976T>G	uc001daq.1	-	c.4118A>C	c.(4117-4119)AAA>ACA	p.K1373T	DOCK7_uc001dap.1_Missense_Mutation_p.K1342T|DOCK7_uc001dam.1_Missense_Mutation_p.K553T|DOCK7_uc001dan.1_Missense_Mutation_p.K1234T|DOCK7_uc001dao.1_Missense_Mutation_p.K1234T	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1373					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.424731	272.109024	273.025243	79	107	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62751976	62751976	4876	1	T	G	G	64	64	DOCK7	G	4	4
DOCK7	85440	broad.mit.edu	36	1	62776182	62776182	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62776182G>A	uc001daq.1	-	c.3439C>T	c.(3439-3441)CCA>TCA	p.P1147S	DOCK7_uc001dap.1_Missense_Mutation_p.P1116S|DOCK7_uc001dam.1_Missense_Mutation_p.P327S|DOCK7_uc001dan.1_Missense_Mutation_p.P1008S|DOCK7_uc001dao.1_Missense_Mutation_p.P1008S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1147					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.198718	64.727835	77.914223	31	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62776182	62776182	4876	1	G	A	A	41	41	DOCK7	A	2	2
DOCK7	85440	broad.mit.edu	36	1	62777892	62777892	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62777892T>G	uc001daq.1	-	c.3212A>C	c.(3211-3213)AAT>ACT	p.N1071T	DOCK7_uc001dap.1_Missense_Mutation_p.N1040T|DOCK7_uc001dam.1_Missense_Mutation_p.N251T|DOCK7_uc001dan.1_Missense_Mutation_p.N932T|DOCK7_uc001dao.1_Missense_Mutation_p.N932T	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1071					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.439189	430.14155	431.089095	130	166	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62777892	62777892	4876	1	T	G	G	52	52	DOCK7	G	4	4
DOCK7	85440	broad.mit.edu	36	1	62781953	62781953	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62781953A>C	uc001daq.1	-	c.2911T>G	c.(2911-2913)TTC>GTC	p.F971V	DOCK7_uc001dap.1_Missense_Mutation_p.F940V|DOCK7_uc001dam.1_Missense_Mutation_p.F151V|DOCK7_uc001dan.1_Missense_Mutation_p.F832V|DOCK7_uc001dao.1_Missense_Mutation_p.F832V	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	971					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.177515	71.350376	87.898284	30	139	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62781953	62781953	4876	1	A	C	C	1	1	DOCK7	C	4	4
DOCK7	85440	broad.mit.edu	36	1	62858179	62858179	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62858179C>T	uc001daq.1	-	c.1499G>A	c.(1498-1500)CGG>CAG	p.R500Q	DOCK7_uc001dap.1_Missense_Mutation_p.R500Q|DOCK7_uc009wah.1_Missense_Mutation_p.R500Q|DOCK7_uc001dan.1_Missense_Mutation_p.R392Q|DOCK7_uc001dao.1_Missense_Mutation_p.R392Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	500					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.339623	158.998082	162.615033	54	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62858179	62858179	4876	1	C	T	T	23	23	DOCK7	T	1	1
ATG4C	84938	broad.mit.edu	36	1	63057474	63057474	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:63057474C>A	uc001dat.1	+	c.605C>A	c.(604-606)TCT>TAT	p.S202Y	ATG4C_uc001dau.1_Missense_Mutation_p.S202Y	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	202					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1														0.205674	55.584419	66.924281	29	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63057474	63057474	1117	1	C	A	A	32	32	ATG4C	A	3	3
ROR1	4919	broad.mit.edu	36	1	64378514	64378514	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:64378514C>T	uc001dbj.2	+	c.745C>T	c.(745-747)CGC>TGC	p.R249C	ROR1_uc001dbi.2_Missense_Mutation_p.R249C	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	249	FZ.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|stomach(1)|breast(1)|skin(1)|kidney(1)	13										216				0.234146	108.207468	121.45871	48	157	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64378514	64378514	14005	1	C	T	T	31	31	ROR1	T	1	1
ROR1	4919	broad.mit.edu	36	1	64416594	64416594	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:64416594C>A	uc001dbj.2	+	c.2282C>A	c.(2281-2283)CCT>CAT	p.P761H		NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	761	Ser/Thr-rich.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|stomach(1)|breast(1)|skin(1)|kidney(1)	13										216				0.44	243.957797	244.587336	88	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64416594	64416594	14005	1	C	A	A	24	24	ROR1	A	3	3
TNFRSF25	8718	broad.mit.edu	36	1	6444220	6444220	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6444220C>T	uc001anh.1	-	c.1142G>A	c.(1141-1143)CGA>CAA	p.R381Q	TNFRSF25_uc001ana.1_Missense_Mutation_p.R189Q|TNFRSF25_uc001anb.1_Non-coding_Transcript|TNFRSF25_uc001anc.1_Non-coding_Transcript|TNFRSF25_uc001and.1_Missense_Mutation_p.R145Q|TNFRSF25_uc009vlz.1_Non-coding_Transcript|TNFRSF25_uc001ane.1_Missense_Mutation_p.R372Q|TNFRSF25_uc001anf.1_Missense_Mutation_p.R335Q|TNFRSF25_uc001ang.1_Missense_Mutation_p.R327Q	NM_148965	NP_683866	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	372	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)												0.509434	75.823002	75.827123	27	26	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	6444220	6444220	16837	1	C	T	T	31	31	TNFRSF25	T	1	1
PLEKHG5	57449	broad.mit.edu	36	1	6453697	6453697	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6453697G>T	uc001anp.1	-	c.1563C>A	c.(1561-1563)GGC>GGA	p.G521G	PLEKHG5_uc001anj.1_Silent_p.G5G|PLEKHG5_uc009vma.1_Silent_p.G284G|PLEKHG5_uc001ank.1_Silent_p.G444G|PLEKHG5_uc009vmb.1_Silent_p.G444G|PLEKHG5_uc001anl.1_Silent_p.G444G|PLEKHG5_uc001anm.1_Silent_p.G444G|PLEKHG5_uc001ann.1_Silent_p.G481G|PLEKHG5_uc001ano.1_Silent_p.G500G|PLEKHG5_uc001anq.1_Silent_p.G521G|PLEKHG5_uc001anr.1_5'Flank	NM_198681	NP_065682	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	500	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|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)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)												0.678571	55.446887	56.258992	19	9	GG		KEEP	---	---	---	---	capture		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	Silent	SNP	6453697	6453697	12499	1	G	T	T	34	34	PLEKHG5	T	3	3
CACHD1	57685	broad.mit.edu	36	1	64880163	64880163	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:64880163C>T	uc001dbo.1	+	c.926C>T	c.(925-927)GCG>GTG	p.A309V	CACHD1_uc001dbp.1_Missense_Mutation_p.A64V|CACHD1_uc001dbq.1_Missense_Mutation_p.A64V	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	360	Extracellular (Potential).|VWFA.				calcium ion transport	integral to membrane				ovary(2)	2														0.431694	210.979721	211.726494	79	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64880163	64880163	2653	1	C	T	T	27	27	CACHD1	T	1	1
CACHD1	57685	broad.mit.edu	36	1	64897075	64897075	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:64897075C>A	uc001dbo.1	+	c.1729C>A	c.(1729-1731)CTG>ATG	p.L577M	CACHD1_uc001dbp.1_Missense_Mutation_p.L332M|CACHD1_uc001dbq.1_Missense_Mutation_p.L332M	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	628	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2														0.228571	16.277963	18.647231	8	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64897075	64897075	2653	1	C	A	A	28	28	CACHD1	A	3	3
JAK1	3716	broad.mit.edu	36	1	65105471	65105471	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:65105471C>T	uc001dbu.1	-	c.656G>A	c.(655-657)CGA>CAA	p.R219Q	JAK1_uc009wam.1_Missense_Mutation_p.R219Q	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	219	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(30)|prostate(7)|soft_tissue(6)|lung(4)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	55										1025				0.223077	62.006932	71.175835	29	101	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(111;0.0485)	Missense_Mutation	SNP	65105471	65105471	8241	1	C	T	T	31	31	JAK1	T	1	1
DNAJC6	9829	broad.mit.edu	36	1	65622545	65622545	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:65622545C>T	uc001dce.1	+	c.748C>T	c.(748-750)CGA>TGA	p.R250*	DNAJC6_uc001dcc.1_Nonsense_Mutation_p.R224*|DNAJC6_uc001dcd.1_Nonsense_Mutation_p.R193*	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	193	Phosphatase tensin-type.				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														0.242105	101.342278	112.886829	46	144	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	65622545	65622545	4836	1	C	T	T	31	31	DNAJC6	T	5	1
DNAJC6	9829	broad.mit.edu	36	1	65627618	65627618	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:65627618A>G	uc001dce.1	+	c.1285A>G	c.(1285-1287)ATA>GTA	p.I429V	DNAJC6_uc001dcc.1_Missense_Mutation_p.I403V|DNAJC6_uc001dcd.1_Missense_Mutation_p.I372V	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	372					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														0.185366	90.437842	109.454769	38	167	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65627618	65627618	4836	1	A	G	G	4	4	DNAJC6	G	4	4
ZBTB48	3104	broad.mit.edu	36	1	6563317	6563317	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6563317G>A	uc009vmc.1	+	c.61G>A	c.(61-63)GAG>AAG	p.E21K	ZBTB48_uc009vmd.1_Missense_Mutation_p.E21K|ZBTB48_uc001anx.1_Missense_Mutation_p.E21K	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	21					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)				Esophageal Squamous(125;1449 1657 4031 29866 49542)								0.413174	193.543024	194.642354	69	98	GG		KEEP	---	---	---	---	capture		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	6563317	6563317	18136	1	G	A	A	41	41	ZBTB48	A	2	2
ZBTB48	3104	broad.mit.edu	36	1	6569394	6569394	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6569394G>A	uc009vmc.1	+	c.1097G>A	c.(1096-1098)CGG>CAG	p.R366Q	ZBTB48_uc009vmd.1_Missense_Mutation_p.R366Q|ZBTB48_uc001anx.1_Missense_Mutation_p.R366Q|ZBTB48_uc001any.1_Missense_Mutation_p.R4Q	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	366	C2H2-type 3.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)				Esophageal Squamous(125;1449 1657 4031 29866 49542)								0.349206	63.540205	64.800075	22	41	GG		KEEP	---	---	---	---	capture		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	6569394	6569394	18136	1	G	A	A	39	39	ZBTB48	A	1	1
PHF13	148479	broad.mit.edu	36	1	6596736	6596736	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6596736C>T	uc001aob.2	+	c.23C>T	c.(22-24)GCC>GTC	p.A8V		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	PHD finger protein 13	8					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)												0.555556	71.464144	71.605531	25	20	CC		KEEP	---	---	---	---	capture		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	6596736	6596736	12247	1	C	T	T	26	26	PHF13	T	2	2
DNAJC11	55735	broad.mit.edu	36	1	6684393	6684393	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6684393G>A	uc001aof.1	-	c.55C>T	c.(55-57)CTG>TTG	p.L19L	DNAJC11_uc001aog.1_Silent_p.L19L	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	19	J.				protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)												0.5	40.673613	40.673613	13	13	GG		KEEP	---	---	---	---	capture		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	6684393	6684393	4813	1	G	A	A	34	34	DNAJC11	A	2	2
SGIP1	84251	broad.mit.edu	36	1	66967537	66967537	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:66967537G>A	uc001dcr.1	+	c.1745G>A	c.(1744-1746)TGT>TAT	p.C582Y	SGIP1_uc001dcs.1_Missense_Mutation_p.C182Y|SGIP1_uc001dct.1_Missense_Mutation_p.C184Y|SGIP1_uc009wat.1_Missense_Mutation_p.C376Y|SGIP1_uc001dcu.1_Missense_Mutation_p.C87Y	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	582					intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.380368	158.233523	160.305398	62	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66967537	66967537	14697	1	G	A	A	48	48	SGIP1	A	2	2
SGIP1	84251	broad.mit.edu	36	1	66979600	66979600	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:66979600C>A	uc001dcr.1	+	c.2357C>A	c.(2356-2358)CCA>CAA	p.P786Q	SGIP1_uc001dcs.1_Missense_Mutation_p.P386Q|SGIP1_uc001dct.1_Missense_Mutation_p.P388Q|SGIP1_uc009wat.1_Missense_Mutation_p.P580Q|SGIP1_uc001dcu.1_Missense_Mutation_p.P291Q	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	786					intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.23166	130.347312	147.44879	60	199	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66979600	66979600	14697	1	C	A	A	21	21	SGIP1	A	3	3
WDR78	79819	broad.mit.edu	36	1	67100474	67100474	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67100474G>A	uc001dcx.1	-	c.1040C>T	c.(1039-1041)GCA>GTA	p.A347V	WDR78_uc009waw.1_Missense_Mutation_p.A93V|WDR78_uc009wax.1_Non-coding_Transcript|WDR78_uc001dcy.1_Missense_Mutation_p.A347V	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	347										ovary(2)	2														0.456311	259.108899	259.45332	94	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67100474	67100474	17901	1	G	A	A	46	46	WDR78	A	2	2
SLC35D1	23169	broad.mit.edu	36	1	67291089	67291089	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67291089G>A	uc001ddk.1	-	c.277C>T	c.(277-279)CTC>TTC	p.L93F		NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	93					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)									0.205357	104.820082	122.861889	46	178	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67291089	67291089	15078	1	G	A	A	34	34	SLC35D1	A	2	2
IL23R	149233	broad.mit.edu	36	1	67421202	67421202	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67421202G>T	uc001ddo.1	+	c.463G>T	c.(463-465)GAC>TAC	p.D155Y	IL23R_uc009waz.1_5'UTR|IL23R_uc001ddp.1_Non-coding_Transcript|IL23R_uc001ddq.1_5'UTR|IL23R_uc001ddr.1_Non-coding_Transcript	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	155	Extracellular (Potential).|Fibronectin type-III 1.				defense response to Gram-negative bacterium|inflammatory response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NK T cell activation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0														0.232432	88.014082	100.158315	43	142	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67421202	67421202	7977	1	G	T	T	33	33	IL23R	T	3	3
IL23R	149233	broad.mit.edu	36	1	67497088	67497088	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67497088C>T	uc001ddo.1	+	c.1579C>T	c.(1579-1581)CAT>TAT	p.H527Y	IL23R_uc009waz.1_Missense_Mutation_p.H324Y|IL23R_uc001ddp.1_Non-coding_Transcript|IL23R_uc001ddq.1_Missense_Mutation_p.H273Y|IL23R_uc001ddr.1_Non-coding_Transcript|IL23R_uc001dds.1_Missense_Mutation_p.H272Y|IL23R_uc001ddt.1_Missense_Mutation_p.H125Y	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	527	Cytoplasmic (Potential).				defense response to Gram-negative bacterium|inflammatory response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NK T cell activation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0														0.230769	73.306577	83.681914	36	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67497088	67497088	7977	1	C	T	T	25	25	IL23R	T	2	2
IL12RB2	3595	broad.mit.edu	36	1	67560023	67560023	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67560023G>T	uc001ddu.1	+	c.227G>T	c.(226-228)AGA>ATA	p.R76I		NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	76	Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3														0.285185	176.937218	188.138247	77	193	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67560023	67560023	7928	1	G	T	T	33	33	IL12RB2	T	3	3
IL12RB2	3595	broad.mit.edu	36	1	67566514	67566514	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67566514G>T	uc001ddu.1	+	c.523G>T	c.(523-525)GAC>TAC	p.D175Y		NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	175	Extracellular (Potential).|Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3														0.205882	146.514311	176.576233	77	297	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67566514	67566514	7928	1	G	T	T	33	33	IL12RB2	T	3	3
IL12RB2	3595	broad.mit.edu	36	1	67567959	67567959	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67567959C>T	uc001ddu.1	+	c.766C>T	c.(766-768)CGA>TGA	p.R256*		NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	256	Extracellular (Potential).|Fibronectin type-III 2.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3														0.454023	225.405163	225.724973	79	95	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	67567959	67567959	7928	1	C	T	T	31	31	IL12RB2	T	5	1
SERBP1	26135	broad.mit.edu	36	1	67658280	67658280	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67658280C>A	uc001ddv.1	-	c.996G>T	c.(994-996)GAG>GAT	p.E332D	SERBP1_uc001ddw.1_Missense_Mutation_p.E317D|SERBP1_uc001ddx.1_Missense_Mutation_p.E326D|SERBP1_uc001ddy.1_Missense_Mutation_p.E311D	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	332					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding				0														0.176991	72.557662	94.780837	40	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67658280	67658280	14561	1	C	A	A	24	24	SERBP1	A	3	3
DIRAS3	9077	broad.mit.edu	36	1	68284955	68284955	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:68284955C>T	uc001ded.1	-	c.614G>A	c.(613-615)GGC>GAC	p.G205D	DIRAS3_uc009wbe.1_Missense_Mutation_p.G205D	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	205					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				0														0.130326	56.776623	109.968915	52	347	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68284955	68284955	4711	1	C	T	T	26	26	DIRAS3	T	2	2
WLS	79971	broad.mit.edu	36	1	68391809	68391809	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:68391809C>T	uc001dee.1	-	c.776G>A	c.(775-777)CGA>CAA	p.R259Q	WLS_uc009wbf.1_Missense_Mutation_p.R216Q|WLS_uc001def.1_Missense_Mutation_p.R261Q|WLS_uc001deg.1_Missense_Mutation_p.R170Q	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 2	261	Cytoplasmic (Potential).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0										563				0.194444	53.00781	65.562417	28	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68391809	68391809	17950	1	C	T	T	31	31	WLS	T	1	1
LRRC40	55631	broad.mit.edu	36	1	70384084	70384084	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:70384084C>T	uc001der.1	-	c.1796G>A	c.(1795-1797)CGA>CAA	p.R599Q		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	599										ovary(1)	1														0.381295	143.629513	145.351367	53	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70384084	70384084	9373	1	C	T	T	31	31	LRRC40	T	1	1
LRRC40	55631	broad.mit.edu	36	1	70390780	70390780	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:70390780C>T	uc001der.1	-	c.1363G>A	c.(1363-1365)GAT>AAT	p.D455N		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	455	LRR 15.									ovary(1)	1														0.410853	147.646884	148.543161	53	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70390780	70390780	9373	1	C	T	T	31	31	LRRC40	T	1	1
CTH	1491	broad.mit.edu	36	1	70673429	70673429	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:70673429G>A	uc001dfd.1	+	c.1033G>A	c.(1033-1035)GAA>AAA	p.E345K	CTH_uc001dfe.1_Missense_Mutation_p.E301K	NM_001902	NP_001893	P32929	CGL_HUMAN	cystathionase isoform 1	345					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			lung(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)									0.445946	93.564553	93.752842	33	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70673429	70673429	4168	1	G	A	A	37	37	CTH	A	1	1
PTGER3	5733	broad.mit.edu	36	1	71104095	71104095	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:71104095G>A	uc001dfi.1	-	c.1114C>T	c.(1114-1116)CTT>TTT	p.L372F	PTGER3_uc001dfg.1_Intron|PTGER3_uc001dfh.1_Intron|PTGER3_uc001dfk.1_Intron|PTGER3_uc001dfj.1_Intron|PTGER3_uc001dfl.1_Intron|PTGER3_uc009wbm.1_Intron	NM_000957	NP_000948	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	Error:Variant_position_missing_in_P43115_after_alignment					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)	1					Bimatoprost(DB00905)									0.185185	28.682307	36.206805	15	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71104095	71104095	13199	1	G	A	A	33	33	PTGER3	A	2	2
NEGR1	257194	broad.mit.edu	36	1	71831239	71831239	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:71831239C>T	uc001dfw.1	-	c.789G>A	c.(787-789)AAG>AAA	p.K263K	NEGR1_uc001dfv.1_Silent_p.K135K	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	263	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)												0.245283	60.190525	66.461281	26	80	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	Silent	SNP	71831239	71831239	10716	1	C	T	T	26	26	NEGR1	T	2	2
LRRIQ3	127255	broad.mit.edu	36	1	74421872	74421872	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:74421872C>A	uc001dfy.2	-	c.85G>T	c.(85-87)GAT>TAT	p.D29Y	LRRIQ3_uc001dfz.2_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	29										ovary(2)	2										2				0.404959	125.831523	126.791747	49	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74421872	74421872	9406	1	C	A	A	32	32	LRRIQ3	A	3	3
TNNI3K	51086	broad.mit.edu	36	1	74730456	74730456	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:74730456C>T	uc001dge.1	+	c.2572C>T	c.(2572-2574)CGG>TGG	p.R858W	TNNI3K_uc001dgf.1_Missense_Mutation_p.R757W	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	757					protein phosphorylation	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										765				0.239754	269.582949	299.724163	117	371	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74730456	74730456	16870	1	C	T	T	23	23	TNNI3K	T	1	1
C1orf173	127254	broad.mit.edu	36	1	74809923	74809923	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:74809923G>A	uc001dgg.1	-	c.4059C>T	c.(4057-4059)GCC>GCT	p.A1353A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1353	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.443223	341.298295	342.069088	121	152	GG		KEEP	---	---	---	---	capture			Silent	SNP	74809923	74809923	2081	1	G	A	A	39	39	C1orf173	A	1	1
C1orf173	127254	broad.mit.edu	36	1	74810059	74810059	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:74810059G>A	uc001dgg.1	-	c.3923C>T	c.(3922-3924)GCG>GTG	p.A1308V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1308	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.236453	203.731577	229.496314	96	310	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74810059	74810059	2081	1	G	A	A	38	38	C1orf173	A	1	1
C1orf173	127254	broad.mit.edu	36	1	74811156	74811156	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:74811156G>A	uc001dgg.1	-	c.2826C>T	c.(2824-2826)GTC>GTT	p.V942V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	942	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.205438	130.319114	156.97519	68	263	GG		KEEP	---	---	---	---	capture			Silent	SNP	74811156	74811156	2081	1	G	A	A	37	37	C1orf173	A	1	1
C1orf173	127254	broad.mit.edu	36	1	74859177	74859177	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:74859177T>G	uc001dgg.1	-	c.829A>C	c.(829-831)AGG>CGG	p.R277R	C1orf173_uc001dgi.2_Silent_p.R71R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	277										ovary(3)|central_nervous_system(1)	4														0.2	51.114987	59.903278	21	84	TT		KEEP	---	---	---	---	capture			Silent	SNP	74859177	74859177	2081	1	T	G	G	56	56	C1orf173	G	4	4
CRYZ	1429	broad.mit.edu	36	1	74963054	74963054	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:74963054A>C	uc001dgj.1	-	c.40T>G	c.(40-42)TTT>GTT	p.F14V	CRYZ_uc001dgk.1_Missense_Mutation_p.F14V|CRYZ_uc001dgl.1_Missense_Mutation_p.F14V|CRYZ_uc001dgm.1_Intron	NM_001889	NP_001880	Q08257	QOR_HUMAN	crystallin, zeta isoform a	14					oxidation-reduction process|protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)									0.413793	239.176178	240.303471	72	102	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74963054	74963054	4061	1	A	C	C	1	1	CRYZ	C	4	4
SLC44A5	204962	broad.mit.edu	36	1	75452257	75452257	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:75452257G>A	uc001dgu.1	-	c.1808C>T	c.(1807-1809)GCA>GTA	p.A603V	SLC44A5_uc001dgr.1_Missense_Mutation_p.A561V|SLC44A5_uc001dgs.1_Missense_Mutation_p.A561V|SLC44A5_uc001dgt.1_Missense_Mutation_p.A603V	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	603	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)	2														0.259434	122.608428	133.735627	55	157	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75452257	75452257	15136	1	G	A	A	46	46	SLC44A5	A	2	2
ACADM	34	broad.mit.edu	36	1	75970955	75970955	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:75970955C>T	uc009wbr.1	+	c.157C>T	c.(157-159)CGT>TGT	p.R53C	ACADM_uc001dgw.2_Missense_Mutation_p.R53C|ACADM_uc009wbp.1_Missense_Mutation_p.R57C|ACADM_uc009wbq.1_5'UTR|ACADM_uc001dgx.2_5'UTR	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	53			R -> C (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)	3														0.430976	361.042773	362.278138	128	169	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75970955	75970955	114	1	C	T	T	31	31	ACADM	T	1	1
ACADM	34	broad.mit.edu	36	1	75999536	75999536	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:75999536G>T	uc009wbr.1	+	c.1186G>T	c.(1186-1188)GAT>TAT	p.D396Y	ACADM_uc001dgw.2_Missense_Mutation_p.D363Y|ACADM_uc009wbp.1_Missense_Mutation_p.D367Y|ACADM_uc009wbq.1_Missense_Mutation_p.D233Y|ACADM_uc001dgx.2_Missense_Mutation_p.D277Y|ACADM_uc009wbs.1_Non-coding_Transcript	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	363					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)	3														0.19788	105.117538	129.193219	56	227	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75999536	75999536	114	1	G	T	T	33	33	ACADM	T	3	3
MSH4	4438	broad.mit.edu	36	1	76053342	76053342	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:76053342G>T	uc001dhd.1	+	c.748G>T	c.(748-750)GGA>TGA	p.G250*		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	250					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(1)|lung(1)	2														0.201058	73.224515	88.946105	38	151	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	76053342	76053342	10265	1	G	T	T	35	35	MSH4	T	5	3
MSH4	4438	broad.mit.edu	36	1	76117272	76117272	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:76117272A>C	uc001dhd.1	+	c.1548A>C	c.(1546-1548)ATA>ATC	p.I516I		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	516					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(1)|lung(1)	2														0.376923	165.856528	167.579913	49	81	AA		KEEP	---	---	---	---	capture			Silent	SNP	76117272	76117272	10265	1	A	C	C	16	16	MSH4	C	4	4
ASB17	127247	broad.mit.edu	36	1	76160356	76160356	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:76160356T>G	uc001dhe.1	-	c.678A>C	c.(676-678)ATA>ATC	p.I226I	ASB17_uc001dhf.1_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	226					intracellular signal transduction					ovary(1)	1														0.232323	64.965447	71.472744	23	76	TT		KEEP	---	---	---	---	capture			Silent	SNP	76160356	76160356	1039	1	T	G	G	61	61	ASB17	G	4	4
ST6GALNAC3	256435	broad.mit.edu	36	1	76552135	76552135	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:76552135C>T	uc001dhh.1	+	c.76C>T	c.(76-78)CGT>TGT	p.R26C	ST6GALNAC3_uc001dhg.2_Missense_Mutation_p.R26C	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	ST6	26	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)	3														0.183486	72.364182	92.872906	40	178	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76552135	76552135	15743	1	C	T	T	27	27	ST6GALNAC3	T	1	1
ST6GALNAC3	256435	broad.mit.edu	36	1	76650429	76650429	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:76650429G>A	uc001dhh.1	+	c.362G>A	c.(361-363)CGC>CAC	p.R121H	ST6GALNAC3_uc001dhg.2_Missense_Mutation_p.R121H	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	ST6	121	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)	3														0.210526	78.209149	92.941281	40	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76650429	76650429	15743	1	G	A	A	38	38	ST6GALNAC3	A	1	1
ST6GALNAC3	256435	broad.mit.edu	36	1	76650496	76650496	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:76650496T>G	uc001dhh.1	+	c.429T>G	c.(427-429)TTT>TTG	p.F143L	ST6GALNAC3_uc001dhg.2_Missense_Mutation_p.F143L	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	ST6	143	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)	3														0.448718	352.445335	352.98088	105	129	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76650496	76650496	15743	1	T	G	G	64	64	ST6GALNAC3	G	4	4
CAMTA1	23261	broad.mit.edu	36	1	7728491	7728491	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:7728491G>A	uc001aoi.1	+	c.4371_splice	c.e18-1	p.R1457_splice	CAMTA1_uc001aok.2_Splice_Site_SNP_p.R500_splice|CAMTA1_uc001aoj.1_Splice_Site_SNP_p.R413_splice|CAMTA1_uc009vmf.1_Intron	NM_015215	NP_056030			calmodulin-binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)												0.389728	378.799318	382.324778	129	202	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	Splice_Site_SNP	SNP	7728491	7728491	2730	1	G	A	A	33	33	CAMTA1	A	5	2
CAMTA1	23261	broad.mit.edu	36	1	7728693	7728693	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:7728693C>T	uc001aoi.1	+	c.4572C>T	c.(4570-4572)CTC>CTT	p.L1524L	CAMTA1_uc001aok.2_Silent_p.L567L|CAMTA1_uc001aoj.1_Silent_p.L480L|CAMTA1_uc009vmf.1_Silent_p.L114L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)												0.201117	78.58938	93.460952	36	143	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	Silent	SNP	7728693	7728693	2730	1	C	T	T	32	32	CAMTA1	T	2	2
ST6GALNAC5	81849	broad.mit.edu	36	1	77301445	77301445	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:77301445C>A	uc001dhi.1	+	c.977C>A	c.(976-978)GCT>GAT	p.A326D	ST6GALNAC5_uc009wbw.1_Non-coding_Transcript|ST6GALNAC5_uc001dhj.2_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	326	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)	1														0.301205	125.875583	131.740936	50	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77301445	77301445	15745	1	C	A	A	28	28	ST6GALNAC5	A	3	3
PIGK	10026	broad.mit.edu	36	1	77405092	77405092	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:77405092C>A	uc001dhk.1	-	c.387G>T	c.(385-387)GAG>GAT	p.E129D	PIGK_uc009wbx.1_Missense_Mutation_p.E35D|PIGK_uc001dhl.1_Missense_Mutation_p.E129D	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	129	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3														0.197802	33.590275	41.33696	18	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77405092	77405092	12314	1	C	A	A	32	32	PIGK	A	3	3
PIGK	10026	broad.mit.edu	36	1	77407604	77407604	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:77407604C>A	uc001dhk.1	-	c.304G>T	c.(304-306)GTG>TTG	p.V102L	PIGK_uc009wbx.1_Intron|PIGK_uc001dhl.1_Missense_Mutation_p.V102L	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	102	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3														0.289773	129.743617	136.721548	51	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77407604	77407604	12314	1	C	A	A	20	20	PIGK	A	3	3
PIGK	10026	broad.mit.edu	36	1	77444973	77444973	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:77444973C>T	uc001dhk.1	-	c.179G>A	c.(178-180)CGA>CAA	p.R60Q	PIGK_uc009wbx.1_Intron|PIGK_uc001dhl.1_Missense_Mutation_p.R60Q	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	60	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3														0.392226	306.058269	308.937298	111	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77444973	77444973	12314	1	C	T	T	31	31	PIGK	T	1	1
VAMP3	9341	broad.mit.edu	36	1	7760815	7760815	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:7760815C>T	uc001aol.1	+	c.282C>T	c.(280-282)ATC>ATT	p.I94I	VAMP3_uc001aom.1_Non-coding_Transcript	NM_004781	NP_004772	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94	Helical; Anchor for type IV membrane protein; (Potential).				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding				0	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)												0.202597	158.929253	190.565826	78	307	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	Silent	SNP	7760815	7760815	17679	1	C	T	T	31	31	VAMP3	T	1	1
PER3	8863	broad.mit.edu	36	1	7781270	7781270	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:7781270C>T	uc001aop.1	+	c.743C>T	c.(742-744)TCG>TTG	p.S248L	PER3_uc001aon.2_Missense_Mutation_p.S247L|PER3_uc009vmg.1_Missense_Mutation_p.S248L|PER3_uc009vmh.1_Missense_Mutation_p.S248L|PER3_uc001aoo.1_Missense_Mutation_p.S247L	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	247					transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)	2	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)												0.391509	225.96904	228.156582	83	129	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	7781270	7781270	12152	1	C	T	T	31	31	PER3	T	1	1
ZZZ3	26009	broad.mit.edu	36	1	77870892	77870892	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:77870892C>T	uc001dhq.1	-	c.736G>A	c.(736-738)GAT>AAT	p.D246N	ZZZ3_uc001dhp.1_Missense_Mutation_p.D246N|ZZZ3_uc001dhr.1_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.D246N	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5														0.187013	142.750972	178.098367	72	313	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77870892	77870892	18862	1	C	T	T	30	30	ZZZ3	T	2	2
USP33	23032	broad.mit.edu	36	1	77956277	77956277	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:77956277A>C	uc001dht.1	-	c.1874T>G	c.(1873-1875)TTT>TGT	p.F625C	USP33_uc001dhu.1_Missense_Mutation_p.F594C|USP33_uc001dhw.1_Missense_Mutation_p.F617C|USP33_uc001dhs.1_Missense_Mutation_p.F346C|USP33_uc001dhv.1_Missense_Mutation_p.F430C	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	625					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1						Melanoma(152;72 1870 11110 26780 42647)								0.209877	137.703239	156.618475	51	192	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77956277	77956277	17628	1	A	C	C	1	1	USP33	C	4	4
NEXN	91624	broad.mit.edu	36	1	78156003	78156003	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:78156003G>A	uc001dic.2	+	c.192G>A	c.(190-192)GAG>GAA	p.E64E	NEXN_uc001dia.2_Silent_p.E64E|NEXN_uc001dib.2_Intron|NEXN_uc009wcb.1_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	64	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2														0.182609	42.299258	53.183748	21	94	GG		KEEP	---	---	---	---	capture		Colorectal(170;0.114)	Silent	SNP	78156003	78156003	10755	1	G	A	A	33	33	NEXN	A	2	2
NEXN	91624	broad.mit.edu	36	1	78180740	78180740	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:78180740G>T	uc001dic.2	+	c.1666G>T	c.(1666-1668)GAA>TAA	p.E556*	NEXN_uc001did.1_Nonsense_Mutation_p.E466*|NEXN_uc001dif.1_Nonsense_Mutation_p.E448*|NEXN_uc001dig.2_Nonsense_Mutation_p.E197*	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	556	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2														0.218978	59.062044	69.045838	30	107	GG		KEEP	---	---	---	---	capture		Colorectal(170;0.114)	Nonsense_Mutation	SNP	78180740	78180740	10755	1	G	T	T	33	33	NEXN	T	5	3
FUBP1	8880	broad.mit.edu	36	1	78202980	78202980	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:78202980C>T	uc001dii.1	-	c.776G>A	c.(775-777)GGC>GAC	p.G259D	FUBP1_uc001dih.2_Non-coding_Transcript	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	259					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3														0.391691	372.915633	376.380431	132	205	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78202980	78202980	6343	1	C	T	T	26	26	FUBP1	T	2	2
GIPC2	54810	broad.mit.edu	36	1	78318990	78318990	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:78318990G>T	uc001dik.1	+	c.284G>T	c.(283-285)AGA>ATA	p.R95I		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	PDZ domain protein GIPC2	95						cytoplasm				ovary(1)	1														0.127273	37.011532	74.300366	35	240	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78318990	78318990	6661	1	G	T	T	33	33	GIPC2	T	3	3
PTGFR	5737	broad.mit.edu	36	1	78731612	78731612	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:78731612G>T	uc001din.1	+	c.596G>T	c.(595-597)AGA>ATA	p.R199I	PTGFR_uc001dim.1_Missense_Mutation_p.R199I	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	199	Helical; Name=5; (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)	3					Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)									0.487603	316.064334	316.098759	118	124	GG		KEEP	---	---	---	---	capture		Colorectal(170;0.248)	Missense_Mutation	SNP	78731612	78731612	13204	1	G	T	T	33	33	PTGFR	T	3	3
IFI44L	10964	broad.mit.edu	36	1	78866539	78866539	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:78866539G>A	uc001dio.2	+	c.234G>A	c.(232-234)TCG>TCA	p.S78S		NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	117						cytoplasm					0														0.290323	67.386256	71.050969	27	66	GG		KEEP	---	---	---	---	capture			Silent	SNP	78866539	78866539	7819	1	G	A	A	37	37	IFI44L	A	1	1
IFI44L	10964	broad.mit.edu	36	1	78879319	78879319	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:78879319T>G	uc001dio.2	+	c.957T>G	c.(955-957)ACT>ACG	p.T319T		NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	358						cytoplasm					0														0.15493	63.03528	87.269166	33	180	TT		KEEP	---	---	---	---	capture			Silent	SNP	78879319	78879319	7819	1	T	G	G	53	53	IFI44L	G	4	4
IFI44	10561	broad.mit.edu	36	1	78897753	78897753	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:78897753G>A	uc001dip.2	+	c.1009G>A	c.(1009-1011)GCT>ACT	p.A337T		NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	interferon-induced, hepatitis C-associated	337					response to virus	cytoplasm				ovary(1)|central_nervous_system(1)	2														0.1875	26.971365	34.297422	15	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78897753	78897753	7818	1	G	A	A	38	38	IFI44	A	1	1
ELTD1	64123	broad.mit.edu	36	1	79156285	79156285	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:79156285G>T	uc001diq.2	-	c.1500C>A	c.(1498-1500)TTC>TTA	p.F500L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	500	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1														0.388186	230.663165	233.284145	92	145	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	Missense_Mutation	SNP	79156285	79156285	5276	1	G	T	T	33	33	ELTD1	T	3	3
PARK7	11315	broad.mit.edu	36	1	7960387	7960387	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:7960387T>C	uc001aou.2	+	c.409_splice	c.e6+2	p.G137_splice	PARK7_uc001aox.2_Splice_Site_SNP_p.G137_splice|PARK7_uc001aov.2_Splice_Site_SNP_p.G117_splice	NM_001123377	NP_001116849			Parkinson disease protein 7						autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity				0	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)												0.291339	113.539791	118.483169	37	90	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	Splice_Site_SNP	SNP	7960387	7960387	11867	1	T	C	C	57	57	PARK7	C	5	4
ERRFI1	54206	broad.mit.edu	36	1	7996839	7996839	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:7996839G>A	uc001aoz.1	-	c.407C>T	c.(406-408)TCC>TTC	p.S136F	ERRFI1_uc001apa.1_Missense_Mutation_p.S61F	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	136					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)												0.471591	478.701447	478.950004	166	186	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	7996839	7996839	5437	1	G	A	A	41	41	ERRFI1	A	2	2
LPHN2	23266	broad.mit.edu	36	1	82218226	82218226	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:82218226A>G	uc001dit.2	+	c.3056A>G	c.(3055-3057)AAC>AGC	p.N1019S	LPHN2_uc001dis.1_Intron|LPHN2_uc001diu.1_Missense_Mutation_p.N1019S|LPHN2_uc001div.1_Missense_Mutation_p.N1019S|LPHN2_uc009wcd.1_Missense_Mutation_p.N1019S|LPHN2_uc001diw.1_Missense_Mutation_p.N603S|LPHN2_uc009wce.1_Missense_Mutation_p.N105S	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1032	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3														0.475248	160.805555	160.858375	48	53	AA		KEEP	---	---	---	---	capture		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	Missense_Mutation	SNP	82218226	82218226	9289	1	A	G	G	2	2	LPHN2	G	4	4
LPHN2	23266	broad.mit.edu	36	1	82222949	82222949	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:82222949C>T	uc001dit.2	+	c.3326C>T	c.(3325-3327)ACC>ATC	p.T1109I	LPHN2_uc001dis.1_Intron|LPHN2_uc001diu.1_Missense_Mutation_p.T1109I|LPHN2_uc001div.1_Missense_Mutation_p.T1109I|LPHN2_uc009wcd.1_Missense_Mutation_p.T1109I|LPHN2_uc001diw.1_Missense_Mutation_p.T693I	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1122	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3														0.2	95.997439	115.667386	47	188	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	Missense_Mutation	SNP	82222949	82222949	9289	1	C	T	T	18	18	LPHN2	T	2	2
TTLL7	79739	broad.mit.edu	36	1	84188243	84188243	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:84188243C>A	uc001djc.1	-	c.172G>T	c.(172-174)GAT>TAT	p.D58Y	TTLL7_uc001djb.1_Non-coding_Transcript|TTLL7_uc001djd.1_Non-coding_Transcript|TTLL7_uc001dje.1_Non-coding_Transcript|TTLL7_uc001djf.1_Intron|TTLL7_uc001djg.1_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	58	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1														0.175439	34.522427	45.856069	20	94	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	Missense_Mutation	SNP	84188243	84188243	17287	1	C	A	A	32	32	TTLL7	A	3	3
CTBS	1486	broad.mit.edu	36	1	84793334	84793334	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:84793334G>T	uc001dka.1	-	c.1094C>A	c.(1093-1095)GCT>GAT	p.A365D	SPATA1_uc001djz.1_Intron|CTBS_uc001dkb.1_Missense_Mutation_p.A159D|CTBS_uc001dkc.1_Missense_Mutation_p.A274D|CTBS_uc001dkd.1_Missense_Mutation_p.A159D	NM_004388	NP_004379	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	365						lysosome	cation binding				0														0.232258	159.826117	180.191408	72	238	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	Missense_Mutation	SNP	84793334	84793334	4158	1	G	T	T	34	34	CTBS	T	3	3
CTBS	1486	broad.mit.edu	36	1	84808342	84808342	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:84808342A>C	uc001dka.1	-	c.385T>G	c.(385-387)TTG>GTG	p.L129V	CTBS_uc001dkb.1_Intron|CTBS_uc001dkc.1_Missense_Mutation_p.L38V|CTBS_uc001dkd.1_Intron	NM_004388	NP_004379	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	129						lysosome	cation binding				0														0.430939	263.433256	264.18395	78	103	AA		KEEP	---	---	---	---	capture		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	Missense_Mutation	SNP	84808342	84808342	4158	1	A	C	C	1	1	CTBS	C	4	4
SSX2IP	117178	broad.mit.edu	36	1	84900621	84900621	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:84900621G>T	uc001dkh.1	-	c.775C>A	c.(775-777)CTC>ATC	p.L259I	SSX2IP_uc001dkf.1_Missense_Mutation_p.L232I|SSX2IP_uc001dkg.1_Non-coding_Transcript|SSX2IP_uc001dki.1_Missense_Mutation_p.L259I|SSX2IP_uc001dkj.1_Missense_Mutation_p.L259I|SSX2IP_uc009wci.1_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.L255I	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	259					cell adhesion	nucleus|protein complex				ovary(2)	2														0.172897	61.128775	82.773504	37	177	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	Missense_Mutation	SNP	84900621	84900621	15722	1	G	T	T	33	33	SSX2IP	T	3	3
LPAR3	23566	broad.mit.edu	36	1	85103853	85103853	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85103853G>A	uc001dkl.2	-	c.539C>T	c.(538-540)GCC>GTC	p.A180V	LPAR3_uc009wcj.1_Missense_Mutation_p.A180V	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	180	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				ovary(2)	2														0.216495	87.043298	101.432957	42	152	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85103853	85103853	9279	1	G	A	A	42	42	LPAR3	A	2	2
MCOLN2	255231	broad.mit.edu	36	1	85203841	85203841	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85203841C>A	uc001dkm.1	-	c.216G>T	c.(214-216)AAG>AAT	p.K72N	MCOLN2_uc001dkn.1_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	72						integral to membrane	ion channel activity			ovary(3)	3														0.426667	170.158485	170.865363	64	86	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	Missense_Mutation	SNP	85203841	85203841	9785	1	C	A	A	32	32	MCOLN2	A	3	3
SYDE2	84144	broad.mit.edu	36	1	85420593	85420593	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85420593T>G	uc009wcm.1	-	c.2320A>C	c.(2320-2322)AAG>CAG	p.K774Q	SYDE2_uc001dku.2_Missense_Mutation_p.K774Q	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	774	C2.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.179775	38.850526	47.429777	16	73	TT		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|Epithelial(280;0.0336)	Missense_Mutation	SNP	85420593	85420593	15957	1	T	G	G	64	64	SYDE2	G	4	4
SYDE2	84144	broad.mit.edu	36	1	85420928	85420928	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85420928G>T	uc009wcm.1	-	c.1985C>A	c.(1984-1986)GCT>GAT	p.A662D	SYDE2_uc001dku.2_Missense_Mutation_p.A662D	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	662					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.251748	81.524078	89.536807	36	107	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|Epithelial(280;0.0336)	Missense_Mutation	SNP	85420928	85420928	15957	1	G	T	T	34	34	SYDE2	T	3	3
SYDE2	84144	broad.mit.edu	36	1	85421098	85421098	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85421098C>A	uc009wcm.1	-	c.1815G>T	c.(1813-1815)CAG>CAT	p.Q605H	SYDE2_uc001dku.2_Missense_Mutation_p.Q605H	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	605					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.198925	67.150428	82.862523	37	149	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|Epithelial(280;0.0336)	Missense_Mutation	SNP	85421098	85421098	15957	1	C	A	A	32	32	SYDE2	A	3	3
SYDE2	84144	broad.mit.edu	36	1	85428421	85428421	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85428421C>T	uc009wcm.1	-	c.1348G>A	c.(1348-1350)GAA>AAA	p.E450K	SYDE2_uc001dku.2_Missense_Mutation_p.E450K	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	450					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.224377	191.370199	216.586118	81	280	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|Epithelial(280;0.0336)	Missense_Mutation	SNP	85428421	85428421	15957	1	C	T	T	32	32	SYDE2	T	2	2
DDAH1	23576	broad.mit.edu	36	1	85703139	85703139	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85703139G>T	uc001dlb.1	-	c.178C>A	c.(178-180)CTG>ATG	p.L60M	DDAH1_uc009wco.1_5'Flank|DDAH1_uc001dlc.1_Intron	NM_012137	NP_036269	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	60					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding				0					L-Citrulline(DB00155)									0.518519	35.599227	35.605394	14	13	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0318)|Epithelial(280;0.0657)	Missense_Mutation	SNP	85703139	85703139	4492	1	G	T	T	34	34	DDAH1	T	3	3
CYR61	3491	broad.mit.edu	36	1	85819638	85819638	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85819638G>A	uc001dle.1	+	c.66G>A	c.(64-66)GCG>GCA	p.A22A	CYR61_uc001dlg.1_5'Flank|CYR61_uc009wcp.1_5'Flank	NM_001554	NP_001545	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	22					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding				0												OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.2	7.78952	9.463379	4	16	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0216)|Epithelial(280;0.0441)	Silent	SNP	85819638	85819638	4364	1	G	A	A	38	38	CYR61	A	1	1
COL24A1	255631	broad.mit.edu	36	1	85973183	85973183	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85973183G>A	uc001dlj.1	-	c.4835C>T	c.(4834-4836)TCG>TTG	p.S1612L	COL24A1_uc001dli.1_Missense_Mutation_p.S727L|COL24A1_uc001dlk.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1612	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4														0.233696	96.352957	108.282018	43	141	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0627)|Epithelial(280;0.0689)	Missense_Mutation	SNP	85973183	85973183	3821	1	G	A	A	37	37	COL24A1	A	1	1
COL24A1	255631	broad.mit.edu	36	1	86061858	86061858	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86061858G>A	uc001dlj.1	-	c.3738C>T	c.(3736-3738)GGC>GGT	p.G1246G	COL24A1_uc001dli.1_Silent_p.G382G|COL24A1_uc001dlk.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1246	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4														0.364754	235.001129	238.929741	89	155	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0627)|Epithelial(280;0.0689)	Silent	SNP	86061858	86061858	3821	1	G	A	A	38	38	COL24A1	A	1	1
RERE	473	broad.mit.edu	36	1	8607010	8607010	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:8607010C>T	uc001ape.1	-	c.342G>A	c.(340-342)GAG>GAA	p.E114E	RERE_uc001apf.1_Silent_p.E114E|RERE_uc001aph.1_Silent_p.E114E	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	114	BAH.			ES -> VC (in Ref. 1; BAA95898).	multicellular organismal development|NLS-bearing substrate import into nucleus|regulation of transcription, DNA-dependent	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)												0.478102	413.617018	413.730569	131	143	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	Silent	SNP	8607010	8607010	13700	1	C	T	T	32	32	RERE	T	2	2
COL24A1	255631	broad.mit.edu	36	1	86080371	86080371	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86080371G>A	uc001dlj.1	-	c.3538C>T	c.(3538-3540)CCC>TCC	p.P1180S	COL24A1_uc001dli.1_Missense_Mutation_p.P316S|COL24A1_uc001dlk.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1180	Collagen-like 12.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4														0.209424	83.487234	98.422771	40	151	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0627)|Epithelial(280;0.0689)	Missense_Mutation	SNP	86080371	86080371	3821	1	G	A	A	44	44	COL24A1	A	2	2
COL24A1	255631	broad.mit.edu	36	1	86363691	86363691	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86363691C>A	uc001dlj.1	-	c.916G>T	c.(916-918)GAA>TAA	p.E306*	COL24A1_uc001dlk.1_Non-coding_Transcript|COL24A1_uc009wcq.1_Nonsense_Mutation_p.E306*	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	306					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4														0.236052	113.887131	128.749427	55	178	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0627)|Epithelial(280;0.0689)	Nonsense_Mutation	SNP	86363691	86363691	3821	1	C	A	A	32	32	COL24A1	A	5	3
RERE	473	broad.mit.edu	36	1	8638742	8638742	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:8638742C>T	uc001ape.1	-	c.202G>A	c.(202-204)GCA>ACA	p.A68T	RERE_uc001apf.1_Missense_Mutation_p.A68T|RERE_uc001aph.1_Missense_Mutation_p.A68T	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	68				A -> T (in Ref. 1; BAA95898).	multicellular organismal development|NLS-bearing substrate import into nucleus|regulation of transcription, DNA-dependent	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)												0.190092	310.540968	388.532085	165	703	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	Missense_Mutation	SNP	8638742	8638742	13700	1	C	T	T	27	27	RERE	T	1	1
ODF2L	57489	broad.mit.edu	36	1	86621274	86621274	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86621274C>A	uc001dln.1	-	c.436_splice	c.e6-1	p.N146_splice	ODF2L_uc001dll.1_Splice_Site_SNP_p.N146_splice|ODF2L_uc001dlm.1_Splice_Site_SNP_p.N146_splice|ODF2L_uc001dlo.1_Splice_Site_SNP_p.N15_splice|ODF2L_uc001dlp.1_Splice_Site_SNP_p.N146_splice|ODF2L_uc001dlq.1_Splice_Site_SNP_p.N15_splice|ODF2L_uc009wcr.1_Splice_Site_SNP_p.N15_splice	NM_020729	NP_001007023			outer dense fiber of sperm tails 2-like isoform											ovary(1)	1														0.495868	166.681354	166.683308	60	61	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0313)|Epithelial(280;0.0611)	Splice_Site_SNP	SNP	86621274	86621274	11233	1	C	A	A	32	32	ODF2L	A	5	3
ODF2L	57489	broad.mit.edu	36	1	86623015	86623015	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86623015C>A	uc001dln.1	-	c.304G>T	c.(304-306)GAA>TAA	p.E102*	ODF2L_uc001dll.1_Nonsense_Mutation_p.E102*|ODF2L_uc001dlm.1_Nonsense_Mutation_p.E102*|ODF2L_uc001dlo.1_5'UTR|ODF2L_uc001dlp.1_Nonsense_Mutation_p.E102*|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron	NM_020729	NP_001007023	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like isoform	102										ovary(1)	1														0.274074	84.705117	90.921302	37	98	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0313)|Epithelial(280;0.0611)	Nonsense_Mutation	SNP	86623015	86623015	11233	1	C	A	A	32	32	ODF2L	A	5	3
CLCA2	9635	broad.mit.edu	36	1	86670674	86670674	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86670674G>C	uc001dlr.2	+	c.619G>C	c.(619-621)GAA>CAA	p.E207Q		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	207	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)				Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.174699	140.939772	174.083548	58	274	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0233)|Epithelial(280;0.0452)	Missense_Mutation	SNP	86670674	86670674	3594	1	G	C	C	45	45	CLCA2	C	3	3
CLCA2	9635	broad.mit.edu	36	1	86677215	86677215	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86677215C>A	uc001dlr.2	+	c.1041C>A	c.(1039-1041)ACC>ACA	p.T347T		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	347	VWFA.|Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)				Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.170984	55.945774	75.714242	33	160	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0233)|Epithelial(280;0.0452)	Silent	SNP	86677215	86677215	3594	1	C	A	A	24	24	CLCA2	A	3	3
CLCA2	9635	broad.mit.edu	36	1	86682145	86682145	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86682145T>C	uc001dlr.2	+	c.1576T>C	c.(1576-1578)TTT>CTT	p.F526L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	526	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)				Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.227723	125.55456	139.287254	46	156	TT		KEEP	---	---	---	---	capture		all cancers(265;0.0233)|Epithelial(280;0.0452)	Missense_Mutation	SNP	86682145	86682145	3594	1	T	C	C	60	60	CLCA2	C	4	4
CLCA1	1179	broad.mit.edu	36	1	86712077	86712077	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86712077G>T	uc001dlt.1	+	c.381G>T	c.(379-381)GAG>GAT	p.E127D	CLCA1_uc001dls.1_Intron	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	127					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)												0.420139	318.783755	320.395242	121	167	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0249)|Epithelial(280;0.0476)	Missense_Mutation	SNP	86712077	86712077	3593	1	G	T	T	33	33	CLCA1	T	3	3
CLCA4	22802	broad.mit.edu	36	1	86813740	86813740	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86813740C>A	uc009wcs.1	+	c.1821C>A	c.(1819-1821)TTC>TTA	p.F607L	CLCA4_uc009wct.1_Missense_Mutation_p.F370L|CLCA4_uc009wcu.1_Missense_Mutation_p.F427L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	607						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)												0.204403	121.07806	146.888579	65	253	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0202)|Epithelial(280;0.0404)	Missense_Mutation	SNP	86813740	86813740	3595	1	C	A	A	30	30	CLCA4	A	3	3
CLCA4	22802	broad.mit.edu	36	1	86818248	86818248	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86818248C>A	uc009wcs.1	+	c.2392C>A	c.(2392-2394)CTT>ATT	p.L798I	CLCA4_uc009wct.1_Missense_Mutation_p.L561I|CLCA4_uc009wcu.1_Missense_Mutation_p.L618I	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	798						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)												0.474138	150.502655	150.571043	55	61	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0202)|Epithelial(280;0.0404)	Missense_Mutation	SNP	86818248	86818248	3595	1	C	A	A	32	32	CLCA4	A	3	3
SH3GLB1	51100	broad.mit.edu	36	1	86980598	86980598	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86980598C>A	uc001dly.1	+	c.968C>A	c.(967-969)TCT>TAT	p.S323Y	SH3GLB1_uc001dlw.1_Missense_Mutation_p.S294Y|SH3GLB1_uc001dlx.1_Missense_Mutation_p.S315Y|SH3GLB1_uc001dlz.1_Missense_Mutation_p.S194Y	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN	SH3-containing protein SH3GLB1	294					anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding				0		Lung NSC(277;0.209)												0.148148	38.070361	60.544927	28	161	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0136)|Epithelial(280;0.0414)	Missense_Mutation	SNP	86980598	86980598	14745	1	C	A	A	32	32	SH3GLB1	A	3	3
SEP15	9403	broad.mit.edu	36	1	87141635	87141635	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:87141635G>T	uc001dma.1	-	c.169C>A	c.(169-171)CTT>ATT	p.L57I	SEP15_uc001dmb.1_Missense_Mutation_p.L57I	NM_004261		O60613	SEP15_HUMAN	15 kDa selenoprotein isoform 1 precursor	54					'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding				0		Lung NSC(277;0.153)												0.181818	13.970824	18.15922	8	36	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00744)|Epithelial(280;0.0333)	Missense_Mutation	SNP	87141635	87141635	14539	1	G	T	T	33	33	SEP15	T	3	3
HS2ST1	9653	broad.mit.edu	36	1	87330856	87330856	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:87330856G>T	uc001dmd.1	+	c.504G>T	c.(502-504)GAG>GAT	p.E168D	HS2ST1_uc001dmc.2_Missense_Mutation_p.E168D|LOC339524_uc001dme.1_Missense_Mutation_p.E129D	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	168	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)												0.15873	43.508378	64.520033	30	159	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00699)|Epithelial(280;0.0261)	Missense_Mutation	SNP	87330856	87330856	7656	1	G	T	T	33	33	HS2ST1	T	3	3
HS2ST1	9653	broad.mit.edu	36	1	87330921	87330921	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:87330921G>A	uc001dmd.1	+	c.569G>A	c.(568-570)CGA>CAA	p.R190Q	HS2ST1_uc001dmc.2_Missense_Mutation_p.R190Q|LOC339524_uc001dme.1_Missense_Mutation_p.R151Q	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	190	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)												0.208861	69.689622	82.089395	33	125	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00699)|Epithelial(280;0.0261)	Missense_Mutation	SNP	87330921	87330921	7656	1	G	A	A	37	37	HS2ST1	A	1	1
PKN2	5586	broad.mit.edu	36	1	89044254	89044254	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89044254C>A	uc001dmn.1	+	c.1769C>A	c.(1768-1770)TCT>TAT	p.S590Y	PKN2_uc001dmm.1_3'UTR|PKN2_uc009wcv.1_Missense_Mutation_p.S542Y	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	590					protein phosphorylation|signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)	2		Lung NSC(277;0.123)								455				0.164557	37.034353	53.939195	26	132	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0136)|Epithelial(280;0.0301)	Missense_Mutation	SNP	89044254	89044254	12405	1	C	A	A	32	32	PKN2	A	3	3
PKN2	5586	broad.mit.edu	36	1	89071700	89071700	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89071700A>G	uc001dmn.1	+	c.2936A>G	c.(2935-2937)TAC>TGC	p.Y979C	PKN2_uc009wcv.1_Missense_Mutation_p.Y931C	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	979	AGC-kinase C-terminal.				protein phosphorylation|signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)	2		Lung NSC(277;0.123)								455				0.157407	36.017847	48.097197	17	91	AA		KEEP	---	---	---	---	capture		all cancers(265;0.0136)|Epithelial(280;0.0301)	Missense_Mutation	SNP	89071700	89071700	12405	1	A	G	G	14	14	PKN2	G	4	4
GTF2B	2959	broad.mit.edu	36	1	89091528	89091528	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89091528C>A	uc001dmo.2	-	c.907G>T	c.(907-909)GAC>TAC	p.D303Y		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	303					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	general RNA polymerase II transcription factor activity|thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)												0.458084	413.592115	414.107841	153	181	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0131)|Epithelial(280;0.0255)	Missense_Mutation	SNP	89091528	89091528	7135	1	C	A	A	32	32	GTF2B	A	3	3
GTF2B	2959	broad.mit.edu	36	1	89095588	89095588	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89095588C>A	uc001dmo.2	-	c.706G>T	c.(706-708)GCC>TCC	p.A236S		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	236	2.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	general RNA polymerase II transcription factor activity|thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)												0.232558	63.095539	71.540435	30	99	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0131)|Epithelial(280;0.0255)	Missense_Mutation	SNP	89095588	89095588	7135	1	C	A	A	28	28	GTF2B	A	3	3
CCBL2	56267	broad.mit.edu	36	1	89191361	89191361	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89191361C>T	uc001dmp.1	-	c.927G>A	c.(925-927)ACG>ACA	p.T309T	CCBL2_uc001dmq.1_Silent_p.T275T|CCBL2_uc001dmr.1_Silent_p.T145T	NM_001008661	NP_001008662	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	309					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			ovary(1)	1		Lung NSC(277;0.123)			L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.462264	140.562343	140.693839	49	57	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0117)|Epithelial(280;0.0341)	Silent	SNP	89191361	89191361	2853	1	C	T	T	31	31	CCBL2	T	1	1
GBP3	2635	broad.mit.edu	36	1	89247265	89247265	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89247265C>T	uc001dmt.1	-	c.1612G>A	c.(1612-1614)GCC>ACC	p.A538T	GBP3_uc001dmu.1_Missense_Mutation_p.A404T|GBP3_uc001dmv.1_Non-coding_Transcript	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	538	Potential.					integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)												0.160976	54.172437	76.577132	33	172	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0103)|Epithelial(280;0.0293)	Missense_Mutation	SNP	89247265	89247265	6541	1	C	T	T	26	26	GBP3	T	2	2
GBP3	2635	broad.mit.edu	36	1	89252527	89252527	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89252527C>T	uc001dmt.1	-	c.452G>A	c.(451-453)CGA>CAA	p.R151Q	GBP3_uc001dmu.1_Missense_Mutation_p.R17Q|GBP3_uc001dmv.1_Non-coding_Transcript	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	151						integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)												0.457627	229.447954	229.725127	81	96	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0103)|Epithelial(280;0.0293)	Missense_Mutation	SNP	89252527	89252527	6541	1	C	T	T	31	31	GBP3	T	1	1
GBP1	2633	broad.mit.edu	36	1	89293405	89293405	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89293405C>T	uc001dmx.2	-	c.1450G>A	c.(1450-1452)GAA>AAA	p.E484K		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	484					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.123)												0.4375	139.952089	140.334497	49	63	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0156)|Epithelial(280;0.0291)	Missense_Mutation	SNP	89293405	89293405	6539	1	C	T	T	32	32	GBP1	T	2	2
GBP2	2634	broad.mit.edu	36	1	89355394	89355394	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89355394G>C	uc001dmz.1	-	c.737C>G	c.(736-738)GCT>GGT	p.A246G	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	guanylate binding protein 2,	246					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)												0.185185	59.991428	72.537225	25	110	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0151)|Epithelial(280;0.0284)	Missense_Mutation	SNP	89355394	89355394	6540	1	G	C	C	34	34	GBP2	C	3	3
GBP4	115361	broad.mit.edu	36	1	89423731	89423731	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89423731C>A	uc001dnb.1	-	c.1717G>T	c.(1717-1719)GAA>TAA	p.E573*		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	573	Potential.					cytoplasm	GTP binding|GTPase activity				0														0.176991	32.720558	43.841651	20	93	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00723)|Epithelial(280;0.0291)	Nonsense_Mutation	SNP	89423731	89423731	6542	1	C	A	A	32	32	GBP4	A	5	3
GBP6	163351	broad.mit.edu	36	1	89616572	89616572	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89616572C>T	uc001dnf.2	+	c.437C>T	c.(436-438)ACG>ATG	p.T146M		NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	146							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)												0.230769	132.353406	150.522268	63	210	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0108)|Epithelial(280;0.0398)	Missense_Mutation	SNP	89616572	89616572	6544	1	C	T	T	19	19	GBP6	T	1	1
GBP6	163351	broad.mit.edu	36	1	89620860	89620860	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89620860C>A	uc001dnf.2	+	c.1202C>A	c.(1201-1203)TCA>TAA	p.S401*		NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	401							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)												0.203774	107.681489	129.287027	54	211	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0108)|Epithelial(280;0.0398)	Nonsense_Mutation	SNP	89620860	89620860	6544	1	C	A	A	29	29	GBP6	A	5	3
LRRC8B	23507	broad.mit.edu	36	1	89821158	89821158	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89821158T>A	uc001dnh.1	+	c.361T>A	c.(361-363)TTC>ATC	p.F121I	LRRC8B_uc001dni.1_Missense_Mutation_p.F121I|LRRC8B_uc001dnj.1_Missense_Mutation_p.F121I	NM_015350	NP_056165	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	121	Helical; (Potential).					integral to membrane				ovary(2)	2		all_lung(203;0.17)												0.145773	60.511011	101.946248	50	293	TT		KEEP	---	---	---	---	capture		all cancers(265;0.00515)|Epithelial(280;0.0241)	Missense_Mutation	SNP	89821158	89821158	9398	1	T	A	A	64	64	LRRC8B	A	4	4
LRRC8C	84230	broad.mit.edu	36	1	89951234	89951234	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89951234C>T	uc001dnl.2	+	c.517C>T	c.(517-519)CGG>TGG	p.R173W		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	173						endoplasmic reticulum membrane|integral to membrane				ovary(3)|central_nervous_system(1)|pancreas(1)	5		all_lung(203;0.126)												0.42623	284.458766	285.61603	104	140	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00756)|Epithelial(280;0.0313)	Missense_Mutation	SNP	89951234	89951234	9399	1	C	T	T	19	19	LRRC8C	T	1	1
LRRC8C	84230	broad.mit.edu	36	1	89952288	89952288	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89952288C>A	uc001dnl.2	+	c.1571C>A	c.(1570-1572)TCT>TAT	p.S524Y		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	524	LRR 6.					endoplasmic reticulum membrane|integral to membrane				ovary(3)|central_nervous_system(1)|pancreas(1)	5		all_lung(203;0.126)												0.26875	96.342302	104.074653	43	117	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00756)|Epithelial(280;0.0313)	Missense_Mutation	SNP	89952288	89952288	9399	1	C	A	A	32	32	LRRC8C	A	3	3
SLC2A7	155184	broad.mit.edu	36	1	8997388	8997388	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:8997388C>T	uc009vmo.1	-	c.842G>A	c.(841-843)CGC>CAC	p.R281H		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	281	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)												0.266667	8.892542	9.630872	4	11	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	8997388	8997388	15047	1	C	T	T	27	27	SLC2A7	T	1	1
SLC2A7	155184	broad.mit.edu	36	1	8997466	8997466	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:8997466T>C	uc009vmo.1	-	c.764A>G	c.(763-765)GAC>GGC	p.D255G		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	255	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)												0.6	46.627386	46.84684	15	10	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	8997466	8997466	15047	1	T	C	C	58	58	SLC2A7	C	4	4
SLC2A7	155184	broad.mit.edu	36	1	9001950	9001950	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:9001950A>C	uc009vmo.1	-	c.341T>G	c.(340-342)TTT>TGT	p.F114C		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	114	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)												0.485149	162.273072	162.292231	49	52	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	9001950	9001950	15047	1	A	C	C	1	1	SLC2A7	C	4	4
LRRC8D	55144	broad.mit.edu	36	1	90172518	90172518	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:90172518G>T	uc001dnm.1	+	c.1303G>T	c.(1303-1305)GGT>TGT	p.G435C	LRRC8D_uc001dnn.1_Missense_Mutation_p.G435C|LRRC8D_uc009wcz.1_Missense_Mutation_p.G435C	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	435						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)												0.204878	85.123945	101.699931	42	163	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0109)|Epithelial(280;0.0427)	Missense_Mutation	SNP	90172518	90172518	9400	1	G	T	T	47	47	LRRC8D	T	3	3
SLC2A5	6518	broad.mit.edu	36	1	9021535	9021535	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:9021535A>G	uc001apo.1	-	c.1037T>C	c.(1036-1038)CTG>CCG	p.L346P		NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	346	Helical; Name=9; (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)												0.238095	21.028217	23.770353	10	32	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	9021535	9021535	15045	1	A	G	G	7	7	SLC2A5	G	4	4
GPR157	80045	broad.mit.edu	36	1	9094041	9094041	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:9094041C>T	uc001apq.1	-	c.478G>A	c.(478-480)GAC>AAC	p.D160N	GPR157_uc001apr.2_Missense_Mutation_p.D160N	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	160	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)										OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.228758	72.448001	82.7754	35	118	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	9094041	9094041	6937	1	C	T	T	31	31	GPR157	T	1	1
ZNF644	84146	broad.mit.edu	36	1	91176982	91176982	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91176982G>A	uc001dnw.1	-	c.2517C>T	c.(2515-2517)GTC>GTT	p.V839V	ZNF644_uc001dnv.1_Intron|ZNF644_uc001dnx.1_Intron|ZNF644_uc001dny.1_Silent_p.V839V	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)												0.211538	113.278217	133.289992	55	205	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	Silent	SNP	91176982	91176982	18655	1	G	A	A	37	37	ZNF644	A	1	1
ZNF644	84146	broad.mit.edu	36	1	91178121	91178121	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91178121G>A	uc001dnw.1	-	c.1378C>T	c.(1378-1380)CGC>TGC	p.R460C	ZNF644_uc001dnv.1_Intron|ZNF644_uc001dnx.1_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.R460C	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	460	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)												0.232558	155.797729	175.512519	70	231	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	Missense_Mutation	SNP	91178121	91178121	18655	1	G	A	A	37	37	ZNF644	A	1	1
ZNF644	84146	broad.mit.edu	36	1	91178646	91178646	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91178646T>C	uc001dnw.1	-	c.853A>G	c.(853-855)ATA>GTA	p.I285V	ZNF644_uc001dnv.1_Intron|ZNF644_uc001dnx.1_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.I285V	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)												0.460094	330.440385	330.734224	98	115	TT		KEEP	---	---	---	---	capture		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	Missense_Mutation	SNP	91178646	91178646	18655	1	T	C	C	52	52	ZNF644	C	4	4
HFM1	164045	broad.mit.edu	36	1	91632238	91632238	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91632238C>A	uc001doa.2	-	c.494G>T	c.(493-495)AGA>ATA	p.R165I	HFM1_uc001doc.1_Missense_Mutation_p.R165I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	165							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)												0.190476	45.426548	56.713984	24	102	CC		KEEP	---	---	---	---	capture		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	Missense_Mutation	SNP	91632238	91632238	7366	1	C	A	A	24	24	HFM1	A	3	3
HFM1	164045	broad.mit.edu	36	1	91634543	91634543	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91634543C>A	uc001doa.2	-	c.79G>T	c.(79-81)GAC>TAC	p.D27Y	HFM1_uc001doc.1_Missense_Mutation_p.D27Y	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	27							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)												0.168675	21.590345	30.22925	14	69	CC		KEEP	---	---	---	---	capture		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	Missense_Mutation	SNP	91634543	91634543	7366	1	C	A	A	32	32	HFM1	A	3	3
TGFBR3	7049	broad.mit.edu	36	1	91933863	91933863	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91933863G>A	uc001doh.1	-	c.2391C>T	c.(2389-2391)ATC>ATT	p.I797I	TGFBR3_uc009wde.1_Silent_p.I492I|TGFBR3_uc001doi.1_Silent_p.I796I|TGFBR3_uc001doj.1_Silent_p.I796I	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	797	Helical; (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)												0.439331	296.649943	297.413792	105	134	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0108)|Epithelial(280;0.0825)	Silent	SNP	91933863	91933863	16351	1	G	A	A	37	37	TGFBR3	A	1	1
TGFBR3	7049	broad.mit.edu	36	1	91965839	91965839	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91965839T>C	uc001doh.1	-	c.850A>G	c.(850-852)AAA>GAA	p.K284E	TGFBR3_uc009wde.1_Missense_Mutation_p.K62E|TGFBR3_uc001doi.1_Missense_Mutation_p.K284E|TGFBR3_uc001doj.1_Missense_Mutation_p.K284E	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	284	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)												0.427835	262.308986	263.185739	83	111	TT		KEEP	---	---	---	---	capture		all cancers(265;0.0108)|Epithelial(280;0.0825)	Missense_Mutation	SNP	91965839	91965839	16351	1	T	C	C	63	63	TGFBR3	C	4	4
TGFBR3	7049	broad.mit.edu	36	1	91973091	91973091	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91973091G>T	uc001doh.1	-	c.398C>A	c.(397-399)TCT>TAT	p.S133Y	TGFBR3_uc009wde.1_Intron|TGFBR3_uc001doi.1_Missense_Mutation_p.S133Y|TGFBR3_uc001doj.1_Missense_Mutation_p.S133Y	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	133	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)												0.214559	108.838716	128.494392	56	205	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0108)|Epithelial(280;0.0825)	Missense_Mutation	SNP	91973091	91973091	16351	1	G	T	T	33	33	TGFBR3	T	3	3
BTBD8	284697	broad.mit.edu	36	1	92326861	92326861	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:92326861C>T	uc001doo.1	+	c.168C>T	c.(166-168)TTC>TTT	p.F56F		NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	56						nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)												0.365385	153.356137	155.832397	57	99	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0153)|Epithelial(280;0.0982)	Silent	SNP	92326861	92326861	1581	1	C	T	T	30	30	BTBD8	T	2	2
H6PD	9563	broad.mit.edu	36	1	9246345	9246345	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:9246345C>T	uc001apt.1	+	c.1206C>T	c.(1204-1206)ATC>ATT	p.I402I		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	402	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase activity|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			NADH(DB00157)									0.581967	201.92439	202.637496	71	51	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	Silent	SNP	9246345	9246345	7218	1	C	T	T	31	31	H6PD	T	1	1
RPAP2	79871	broad.mit.edu	36	1	92539654	92539654	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:92539654G>T	uc001dot.1	+	c.153G>T	c.(151-153)AAG>AAT	p.K51N	GLMN_uc001dor.1_5'Flank|GLMN_uc009wdg.1_5'Flank|GLMN_uc001dos.1_5'Flank|RPAP2_uc009wdh.1_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	51	Potential.					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity				0		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)												0.149533	22.323229	34.937068	16	91	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	Missense_Mutation	SNP	92539654	92539654	14021	1	G	T	T	33	33	RPAP2	T	3	3
GFI1	2672	broad.mit.edu	36	1	92714208	92714208	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:92714208C>T	uc001dou.2	-	c.1235G>A	c.(1234-1236)CGA>CAA	p.R412Q	GFI1_uc001dov.2_Missense_Mutation_p.R412Q|GFI1_uc001dow.2_Missense_Mutation_p.R412Q	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	412	C2H2-type 6.				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of vitamin D biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	promoter binding|protein binding|zinc ion binding			large_intestine(1)	1		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)												0.5	92.27598	92.27598	33	33	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	Missense_Mutation	SNP	92714208	92714208	6607	1	C	T	T	31	31	GFI1	T	1	1
EVI5	7813	broad.mit.edu	36	1	92904087	92904087	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:92904087T>G	uc001dox.1	-	c.1341A>C	c.(1339-1341)GAA>GAC	p.E447D	EVI5_uc001doy.1_Non-coding_Transcript	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	447	Dimerization.|Targeting to the centrosomes.|Potential.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)												0.236025	107.200609	117.434334	38	123	TT		KEEP	---	---	---	---	capture		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	Missense_Mutation	SNP	92904087	92904087	5482	1	T	G	G	64	64	EVI5	G	4	4
MTF2	22823	broad.mit.edu	36	1	93375086	93375086	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93375086G>A	uc009wdj.1	+	c.1696G>A	c.(1696-1698)GAA>AAA	p.E566K	MTF2_uc001dpj.2_Missense_Mutation_p.E464K|MTF2_uc009wdk.1_Missense_Mutation_p.E509K|MTF2_uc001dpi.2_Missense_Mutation_p.E293K|MTF2_uc001dpl.2_Missense_Mutation_p.E464K|MTF2_uc001dpm.2_Missense_Mutation_p.E235K	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	566						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)												0.384211	196.519451	198.756056	73	117	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	Missense_Mutation	SNP	93375086	93375086	10316	1	G	A	A	37	37	MTF2	A	1	1
CCDC18	343099	broad.mit.edu	36	1	93445326	93445326	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93445326C>T	uc001dpq.1	+	c.1346C>T	c.(1345-1347)GCA>GTA	p.A449V	CCDC18_uc009wdl.1_Missense_Mutation_p.A10V	NM_206886	NP_996769			sarcoma antigen NY-SAR-41											ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)												0.297619	57.233957	60.315334	25	59	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	Missense_Mutation	SNP	93445326	93445326	2916	1	C	T	T	25	25	CCDC18	T	2	2
CCDC18	343099	broad.mit.edu	36	1	93452902	93452902	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93452902G>T	uc001dpq.1	+	c.1864G>T	c.(1864-1866)GAT>TAT	p.D622Y	CCDC18_uc009wdl.1_Missense_Mutation_p.D183Y	NM_206886	NP_996769			sarcoma antigen NY-SAR-41											ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)												0.21	42.412175	50.201843	21	79	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	Missense_Mutation	SNP	93452902	93452902	2916	1	G	T	T	33	33	CCDC18	T	3	3
CCDC18	343099	broad.mit.edu	36	1	93496963	93496963	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93496963G>T	uc001dpq.1	+	c.3971G>T	c.(3970-3972)AGA>ATA	p.R1324I	CCDC18_uc001dpr.1_Missense_Mutation_p.R119I	NM_206886	NP_996769			sarcoma antigen NY-SAR-41											ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)												0.206897	46.732274	55.973281	24	92	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	Missense_Mutation	SNP	93496963	93496963	2916	1	G	T	T	33	33	CCDC18	T	3	3
BCAR3	8412	broad.mit.edu	36	1	93830423	93830423	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93830423C>T	uc001dpz.1	-	c.473G>A	c.(472-474)CGC>CAC	p.R158H	BCAR3_uc001dpy.1_Missense_Mutation_p.R67H|BCAR3_uc001dqa.1_Missense_Mutation_p.R158H|BCAR3_uc001dqb.1_Missense_Mutation_p.R158H	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	158	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)												0.451852	161.732685	162.007552	61	74	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	Missense_Mutation	SNP	93830423	93830423	1370	1	C	T	T	27	27	BCAR3	T	1	1
BCAR3	8412	broad.mit.edu	36	1	93913011	93913011	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93913011C>T	uc001dpz.1	-	c.64G>A	c.(64-66)GCC>ACC	p.A22T	BCAR3_uc001dqa.1_Missense_Mutation_p.A22T|BCAR3_uc001dqb.1_Missense_Mutation_p.A22T	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	22					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)												0.162963	33.080699	47.651361	22	113	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	Missense_Mutation	SNP	93913011	93913011	1370	1	C	T	T	26	26	BCAR3	T	2	2
ABCA4	24	broad.mit.edu	36	1	94236086	94236086	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94236086C>T	uc001dqh.1	-	c.6648G>A	c.(6646-6648)GCG>GCA	p.A2216A		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	2216	Cytoplasmic.		A -> V.		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)												0.423077	149.992537	150.66556	55	75	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	Silent	SNP	94236086	94236086	35	1	C	T	T	31	31	ABCA4	T	1	1
ABCA4	24	broad.mit.edu	36	1	94259383	94259383	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94259383C>T	uc001dqh.1	-	c.5018_splice	c.e35+1	p.V1673_splice	ABCA4_uc009wdp.1_5'Flank	NM_000350	NP_000341			ATP-binding cassette, sub-family A member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)												0.45122	384.073489	384.761521	148	180	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	Splice_Site_SNP	SNP	94259383	94259383	35	1	C	T	T	17	17	ABCA4	T	5	2
ABCA4	24	broad.mit.edu	36	1	94285103	94285103	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94285103C>T	uc001dqh.1	-	c.2878G>A	c.(2878-2880)GCA>ACA	p.A960T		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	960	Cytoplasmic.|ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)												0.251928	211.852353	233.612406	98	291	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	Missense_Mutation	SNP	94285103	94285103	35	1	C	T	T	27	27	ABCA4	T	1	1
ARHGAP29	9411	broad.mit.edu	36	1	94412390	94412390	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94412390C>A	uc001dqj.2	-	c.3409G>T	c.(3409-3411)GAG>TAG	p.E1137*	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	1137					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|ovary(1)	10		all_lung(203;0.000732)|Lung NSC(277;0.00328)								391				0.191781	75.713695	95.163442	42	177	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0187)|Epithelial(280;0.159)	Nonsense_Mutation	SNP	94412390	94412390	890	1	C	A	A	32	32	ARHGAP29	A	5	3
ARHGAP29	9411	broad.mit.edu	36	1	94412471	94412471	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94412471T>G	uc001dqj.2	-	c.3328A>C	c.(3328-3330)AGC>CGC	p.S1110R	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	1110					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|ovary(1)	10		all_lung(203;0.000732)|Lung NSC(277;0.00328)								391				0.49884	645.196608	645.197152	215	216	TT		KEEP	---	---	---	---	capture		all cancers(265;0.0187)|Epithelial(280;0.159)	Missense_Mutation	SNP	94412471	94412471	890	1	T	G	G	56	56	ARHGAP29	G	4	4
ARHGAP29	9411	broad.mit.edu	36	1	94416046	94416046	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94416046C>T	uc001dqj.2	-	c.2746G>A	c.(2746-2748)GAA>AAA	p.E916K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.2_Missense_Mutation_p.E482K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	916					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|ovary(1)	10		all_lung(203;0.000732)|Lung NSC(277;0.00328)								391				0.226316	95.412247	108.491847	43	147	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0187)|Epithelial(280;0.159)	Missense_Mutation	SNP	94416046	94416046	890	1	C	T	T	32	32	ARHGAP29	T	2	2
ARHGAP29	9411	broad.mit.edu	36	1	94447456	94447456	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94447456C>T	uc001dqj.2	-	c.379G>A	c.(379-381)GAT>AAT	p.D127N	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.2_Missense_Mutation_p.D127N	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	127					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|ovary(1)	10		all_lung(203;0.000732)|Lung NSC(277;0.00328)								391				0.17757	33.884592	44.344804	19	88	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0187)|Epithelial(280;0.159)	Missense_Mutation	SNP	94447456	94447456	890	1	C	T	T	31	31	ARHGAP29	T	1	1
ABCD3	5825	broad.mit.edu	36	1	94718659	94718659	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94718659C>T	uc001dqn.2	+	c.736C>T	c.(736-738)CGA>TGA	p.R246*	ABCD3_uc009wdr.1_Nonsense_Mutation_p.R246*|ABCD3_uc001dqo.2_5'Flank	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	246	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0		all_lung(203;0.000434)|Lung NSC(277;0.0019)												0.207792	98.971955	117.246828	48	183	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0261)|Epithelial(280;0.165)	Nonsense_Mutation	SNP	94718659	94718659	63	1	C	T	T	31	31	ABCD3	T	5	1
ABCD3	5825	broad.mit.edu	36	1	94737116	94737116	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94737116C>T	uc001dqn.2	+	c.1558C>T	c.(1558-1560)CGA>TGA	p.R520*	ABCD3_uc009wdr.1_Nonsense_Mutation_p.R410*|ABCD3_uc001dqo.2_Nonsense_Mutation_p.R208*	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	520	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0		all_lung(203;0.000434)|Lung NSC(277;0.0019)												0.184502	94.086382	119.396242	50	221	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0261)|Epithelial(280;0.165)	Nonsense_Mutation	SNP	94737116	94737116	63	1	C	T	T	31	31	ABCD3	T	5	1
SLC44A3	126969	broad.mit.edu	36	1	95080232	95080232	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:95080232C>T	uc001dqv.2	+	c.849C>T	c.(847-849)TGC>TGT	p.C283C	SLC44A3_uc001dqx.2_Silent_p.C283C|SLC44A3_uc001dqw.2_Silent_p.C235C|SLC44A3_uc009wds.1_Silent_p.C186C	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	283						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)			Choline(DB00122)									0.489177	300.263579	300.285379	113	118	CC		KEEP	---	---	---	---	capture		all cancers(265;0.039)|Epithelial(280;0.124)	Silent	SNP	95080232	95080232	15134	1	C	T	T	27	27	SLC44A3	T	1	1
SLC44A3	126969	broad.mit.edu	36	1	95083457	95083457	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:95083457G>T	uc001dqv.2	+	c.921G>T	c.(919-921)AAG>AAT	p.K307N	SLC44A3_uc001dqx.2_Missense_Mutation_p.K307N|SLC44A3_uc001dqw.2_Missense_Mutation_p.K259N|SLC44A3_uc009wds.1_Missense_Mutation_p.K210N	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	307						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)			Choline(DB00122)									0.228	118.524327	135.514351	57	193	GG		KEEP	---	---	---	---	capture		all cancers(265;0.039)|Epithelial(280;0.124)	Missense_Mutation	SNP	95083457	95083457	15134	1	G	T	T	33	33	SLC44A3	T	3	3
PIK3CD	5293	broad.mit.edu	36	1	9698407	9698407	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:9698407C>T	uc001aqe.2	+	c.363C>T	c.(361-363)ATC>ATT	p.I121I	PIK3CD_uc001aqb.2_Silent_p.I121I|PIK3CD_uc001aqa.2_Silent_p.I121I	NM_005026	NP_005017	O00329	PK3CD_HUMAN	phosphoinositide-3-kinase, catalytic, delta	121					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(2)|central_nervous_system(1)	3	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)								859				0.230159	61.921187	70.325182	29	97	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Silent	SNP	9698407	9698407	12339	1	C	T	T	31	31	PIK3CD	T	1	1
PTBP2	58155	broad.mit.edu	36	1	97023330	97023330	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:97023330C>A	uc001drn.1	+	c.836C>A	c.(835-837)TCT>TAT	p.S279Y	PTBP2_uc001dro.1_Missense_Mutation_p.S279Y|PTBP2_uc009wdw.1_Missense_Mutation_p.S227Y|PTBP2_uc001drp.1_Non-coding_Transcript|PTBP2_uc001drq.1_Missense_Mutation_p.S279Y|PTBP2_uc001drr.1_Missense_Mutation_p.S279Y|PTBP2_uc001drs.1_De_novo_Start_OutOfFrame|PTBP2_uc001drt.1_De_novo_Start_OutOfFrame|PTBP2_uc001dru.1_De_novo_Start_OutOfFrame	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	279							nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)												0.223256	99.970641	115.126362	48	167	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	Missense_Mutation	SNP	97023330	97023330	13180	1	C	A	A	32	32	PTBP2	A	3	3
AGRN	375790	broad.mit.edu	36	1	972900	972900	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:972900C>T	uc001ack.1	+	c.3601C>T	c.(3601-3603)CGC>TGC	p.R1201C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin	1201	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(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)												0.162651	46.321822	64.281029	27	139	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	Missense_Mutation	SNP	972900	972900	400	1	C	T	T	23	23	AGRN	T	1	1
AGRN	375790	broad.mit.edu	36	1	974827	974827	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:974827C>T	uc001ack.1	+	c.4533C>T	c.(4531-4533)TTC>TTT	p.F1511F		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin	1511	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(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)												0.421053	22.196313	22.299702	8	11	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	Silent	SNP	974827	974827	400	1	C	T	T	31	31	AGRN	T	1	1
FRRS1	391059	broad.mit.edu	36	1	99966754	99966754	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:99966754C>T	uc001dsh.1	-	c.889G>A	c.(889-891)GCG>ACG	p.A297T		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	stromal cell derived factor receptor 2 homolog	297	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)												0.417647	189.809527	190.80978	71	99	CC		KEEP	---	---	---	---	capture		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	Missense_Mutation	SNP	99966754	99966754	6310	1	C	T	T	26	26	FRRS1	T	2	2
C20orf94	128710	broad.mit.edu	36	20	10551921	10551921	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:10551921A>G	uc002wnv.1	+	c.1121A>G	c.(1120-1122)AAC>AGC	p.N374S		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	374							protein binding				0														0.171429	34.255236	45.0374	18	87	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10551921	10551921	2201	20	A	G	G	2	2	C20orf94	G	4	4
JAG1	182	broad.mit.edu	36	20	10576654	10576654	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:10576654C>T	uc002wnw.2	-	c.1674G>A	c.(1672-1674)AAG>AAA	p.K558K	JAG1_uc010gcd.1_Silent_p.K116K	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	558	Extracellular (Potential).|EGF-like 8.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5										587				0.193277	48.546472	59.007339	23	96	CC		KEEP	---	---	---	---	capture			Silent	SNP	10576654	10576654	8238	20	C	T	T	32	32	JAG1	T	2	2
JAG1	182	broad.mit.edu	36	20	10577243	10577243	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:10577243C>A	uc002wnw.2	-	c.1523G>T	c.(1522-1524)AGA>ATA	p.R508I	JAG1_uc010gcd.1_Missense_Mutation_p.R66I	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	508	Extracellular (Potential).|EGF-like 7; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5										587				0.447368	137.202777	137.478542	51	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10577243	10577243	8238	20	C	A	A	32	32	JAG1	A	3	3
FKBP1A	2280	broad.mit.edu	36	20	1304152	1304152	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:1304152C>T	uc002wey.1	-	c.181G>A	c.(181-183)GAA>AAA	p.E61K	SDCBP2_uc010gac.1_Intron|FKBP1A_uc002wez.1_Intron|FKBP1A_uc010gad.1_Intron|FKBP1A_uc002wfa.1_Missense_Mutation_p.E61K|FKBP1A_uc002wfb.1_Intron|FKBP1A_uc010gae.1_Missense_Mutation_p.E45K|FKBP1A_uc010gaf.1_Non-coding_Transcript	NM_000801	NP_463460	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	61	PPIase FKBP-type.				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding				0					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)					3				0.151515	23.254393	34.775658	15	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1304152	1304152	6144	20	C	T	T	30	30	FKBP1A	T	2	2
SPTLC3	55304	broad.mit.edu	36	20	13082721	13082721	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:13082721A>G	uc002wod.1	+	c.1351A>G	c.(1351-1353)ATT>GTT	p.I451V		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	451					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)									0.208092	80.609134	94.26127	36	137	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13082721	13082721	15639	20	A	G	G	8	8	SPTLC3	G	4	4
ESF1	51575	broad.mit.edu	36	20	13643769	13643769	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:13643769A>C	uc002woj.1	-	c.2308T>G	c.(2308-2310)TTG>GTG	p.L770V		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	770	Lys-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1														0.198347	97.24242	117.766987	48	194	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13643769	13643769	5444	20	A	C	C	3	3	ESF1	C	4	4
ESF1	51575	broad.mit.edu	36	20	13703906	13703906	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:13703906C>T	uc002woj.1	-	c.1046G>A	c.(1045-1047)CGA>CAA	p.R349Q	ESF1_uc002wok.1_Missense_Mutation_p.R349Q	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1														0.175182	83.330392	110.607259	48	226	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13703906	13703906	5444	20	C	T	T	31	31	ESF1	T	1	1
ESF1	51575	broad.mit.edu	36	20	13711672	13711672	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:13711672G>A	uc002woj.1	-	c.115C>T	c.(115-117)CGA>TGA	p.R39*	ESF1_uc002wok.1_Nonsense_Mutation_p.R39*|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.1_5'Flank|C20orf7_uc002won.1_5'Flank|C20orf7_uc002woo.1_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1														0.233696	93.026213	104.841771	43	141	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	13711672	13711672	5444	20	G	A	A	37	37	ESF1	A	5	1
C20orf7	79133	broad.mit.edu	36	20	13713779	13713779	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:13713779A>C	uc002wom.1	+	c.65A>C	c.(64-66)GAG>GCG	p.E22A	ESF1_uc002woj.1_5'Flank|ESF1_uc002wok.1_5'Flank|C20orf7_uc002wol.1_Missense_Mutation_p.E22A|C20orf7_uc002won.1_Missense_Mutation_p.E22A|C20orf7_uc002woo.1_Non-coding_Transcript	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	hypothetical protein LOC79133 isoform 1	22					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)												0.333333	51.380076	52.856079	20	40	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13713779	13713779	2195	20	A	C	C	11	11	C20orf7	C	4	4
NSFL1C	55968	broad.mit.edu	36	20	1372412	1372412	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:1372412G>A	uc002wfc.1	-	c.1095C>T	c.(1093-1095)ATC>ATT	p.I365I	NSFL1C_uc010gag.1_Silent_p.I131I|NSFL1C_uc002wfd.1_Silent_p.I254I|NSFL1C_uc002wfe.1_Silent_p.I334I|NSFL1C_uc002wff.1_Non-coding_Transcript	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	365	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding				0														0.464789	90.862835	90.939745	33	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	1372412	1372412	11077	20	G	A	A	37	37	NSFL1C	A	1	1
SEL1L2	80343	broad.mit.edu	36	20	13778921	13778921	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:13778921C>T	uc010gcf.1	-	c.1863G>A	c.(1861-1863)ACG>ACA	p.T621T	SEL1L2_uc002woq.2_Silent_p.T482T|SEL1L2_uc002wor.1_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2	621	Extracellular (Potential).|Sel1-like 11.					integral to membrane	binding			ovary(1)	1														0.179012	52.277249	67.910643	29	133	CC		KEEP	---	---	---	---	capture			Silent	SNP	13778921	13778921	14497	20	C	T	T	31	31	SEL1L2	T	1	1
FLRT3	23767	broad.mit.edu	36	20	14255132	14255132	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:14255132G>A	uc002wov.1	-	c.1021C>T	c.(1021-1023)CGT>TGT	p.R341C	MACROD2_uc002wot.1_Intron|MACROD2_uc002wou.1_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R341C|FLRT3_uc010gcg.1_Missense_Mutation_p.R341C	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	341	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)												0.197987	115.006435	140.291531	59	239	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	Missense_Mutation	SNP	14255132	14255132	6182	20	G	A	A	37	37	FLRT3	A	1	1
SIRPB1	10326	broad.mit.edu	36	20	1507074	1507074	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:1507074C>T	uc010gai.1	-	c.343G>A	c.(343-345)GCC>ACC	p.A115T	SIRPB1_uc002wfk.2_Missense_Mutation_p.A115T	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	115	Ig-like V-type.|Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1														0.221607	159.595955	185.362088	80	281	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1507074	1507074	14828	20	C	T	T	27	27	SIRPB1	T	1	1
KIF16B	55614	broad.mit.edu	36	20	16264609	16264609	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16264609G>A	uc002wpg.1	-	c.3673C>T	c.(3673-3675)CGA>TGA	p.R1225*	KIF16B_uc002wpe.1_Intron|KIF16B_uc002wpf.1_Nonsense_Mutation_p.R566*|KIF16B_uc010gch.1_Nonsense_Mutation_p.R1174*	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1225	PX.			R->A: Induces a 3-fold decrease in PtdIns(3)P-binding; when associated with A-1229 and A-1232.	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.19708	107.687547	131.116075	54	220	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	16264609	16264609	8589	20	G	A	A	37	37	KIF16B	A	5	1
KIF16B	55614	broad.mit.edu	36	20	16296107	16296107	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16296107C>T	uc010gci.1	-	c.3863G>A	c.(3862-3864)CGA>CAA	p.R1288Q	KIF16B_uc002wpe.1_Intron|KIF16B_uc002wpf.1_Intron|KIF16B_uc002wpg.1_Intron|KIF16B_uc010gch.1_Intron	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	Error:Variant_position_missing_in_Q96L93_after_alignment					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.190114	94.522967	118.123676	50	213	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16296107	16296107	8589	20	C	T	T	31	31	KIF16B	T	1	1
KIF16B	55614	broad.mit.edu	36	20	16300371	16300371	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16300371C>T	uc010gci.1	-	c.3386G>A	c.(3385-3387)CGC>CAC	p.R1129H	KIF16B_uc002wpe.1_Missense_Mutation_p.R511H|KIF16B_uc002wpf.1_Missense_Mutation_p.R511H|KIF16B_uc002wpg.1_Missense_Mutation_p.R1129H|KIF16B_uc010gch.1_Missense_Mutation_p.R1078H	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1129					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.136646	27.139895	47.72605	22	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16300371	16300371	8589	20	C	T	T	27	27	KIF16B	T	1	1
KIF16B	55614	broad.mit.edu	36	20	16308492	16308492	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16308492C>T	uc010gci.1	-	c.2155G>A	c.(2155-2157)GAG>AAG	p.E719K	KIF16B_uc002wpe.1_Missense_Mutation_p.E101K|KIF16B_uc002wpf.1_Missense_Mutation_p.E101K|KIF16B_uc002wpg.1_Missense_Mutation_p.E719K|KIF16B_uc010gch.1_Missense_Mutation_p.E719K|KIF16B_uc010gcj.1_Missense_Mutation_p.E730K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	719	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.428571	453.276083	454.959735	162	216	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16308492	16308492	8589	20	C	T	T	31	31	KIF16B	T	1	1
KIF16B	55614	broad.mit.edu	36	20	16310364	16310364	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16310364C>T	uc010gci.1	-	c.1813G>A	c.(1813-1815)GAA>AAA	p.E605K	KIF16B_uc002wpe.1_5'Flank|KIF16B_uc002wpf.1_5'Flank|KIF16B_uc002wpg.1_Missense_Mutation_p.E605K|KIF16B_uc010gch.1_Missense_Mutation_p.E605K|KIF16B_uc010gcj.1_Missense_Mutation_p.E616K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	605	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.315789	48.727096	50.448809	18	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16310364	16310364	8589	20	C	T	T	32	32	KIF16B	T	2	2
KIF16B	55614	broad.mit.edu	36	20	16358620	16358620	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16358620G>A	uc010gci.1	-	c.1310C>T	c.(1309-1311)ACT>ATT	p.T437I	KIF16B_uc002wpg.1_Missense_Mutation_p.T437I|KIF16B_uc010gch.1_Missense_Mutation_p.T437I|KIF16B_uc010gcj.1_Missense_Mutation_p.T437I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	437					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.206061	73.554639	86.776182	34	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16358620	16358620	8589	20	G	A	A	36	36	KIF16B	A	2	2
KIF16B	55614	broad.mit.edu	36	20	16436663	16436663	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16436663C>T	uc010gci.1	-	c.639G>A	c.(637-639)GCG>GCA	p.A213A	KIF16B_uc002wpg.1_Silent_p.A213A|KIF16B_uc010gch.1_Silent_p.A213A|KIF16B_uc010gcj.1_Silent_p.A213A	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	213	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.395833	517.223652	521.787399	190	290	CC		KEEP	---	---	---	---	capture			Silent	SNP	16436663	16436663	8589	20	C	T	T	31	31	KIF16B	T	1	1
SNRPB2	6629	broad.mit.edu	36	20	16660818	16660818	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16660818G>T	uc002wph.1	+	c.74G>T	c.(73-75)AGA>ATA	p.R25I	SNRPB2_uc002wpi.1_Missense_Mutation_p.R25I	NM_003092	NP_937863	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	25	RRM 1.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1														0.424125	289.297852	290.595222	109	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16660818	16660818	15362	20	G	T	T	33	33	SNRPB2	T	3	3
PCSK2	5126	broad.mit.edu	36	20	17382596	17382596	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:17382596C>T	uc002wpm.1	+	c.1095C>T	c.(1093-1095)GCC>GCT	p.A365A	PCSK2_uc002wpl.1_Silent_p.A346A	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	365	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.160377	27.21051	38.850216	17	89	CC		KEEP	---	---	---	---	capture			Silent	SNP	17382596	17382596	12022	20	C	T	T	23	23	PCSK2	T	1	1
PCSK2	5126	broad.mit.edu	36	20	17410378	17410378	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:17410378C>T	uc002wpm.1	+	c.1580C>T	c.(1579-1581)TCC>TTC	p.S527F	PCSK2_uc002wpl.1_Missense_Mutation_p.S508F|PCSK2_uc002wpn.1_Missense_Mutation_p.S181F	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	527					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.452991	149.851092	150.077406	53	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17410378	17410378	12022	20	C	T	T	30	30	PCSK2	T	2	2
BFSP1	631	broad.mit.edu	36	20	17423594	17423594	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:17423594C>T	uc002wpo.1	-	c.1123G>A	c.(1123-1125)GAG>AAG	p.E375K	BFSP1_uc002wpp.1_Missense_Mutation_p.E250K	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin	375	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1														0.211302	189.276467	220.706574	86	321	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17423594	17423594	1439	20	C	T	T	32	32	BFSP1	T	2	2
RRBP1	6238	broad.mit.edu	36	20	17556230	17556230	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:17556230C>A	uc002wpv.1	-	c.1548G>T	c.(1546-1548)GAG>GAT	p.E516D	RRBP1_uc002wpu.2_Missense_Mutation_p.E290D|RRBP1_uc002wpw.1_Missense_Mutation_p.E516D|RRBP1_uc010gcl.1_Missense_Mutation_p.E290D|RRBP1_uc010gcm.1_Intron	NM_001042576	NP_004578	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	949	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1														0.145455	19.517589	32.832543	16	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17556230	17556230	14158	20	C	A	A	32	32	RRBP1	A	3	3
RRBP1	6238	broad.mit.edu	36	20	17588970	17588970	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:17588970C>T	uc002wpv.1	-	c.183G>A	c.(181-183)AAG>AAA	p.K61K	RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpw.1_Silent_p.K61K|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpx.2_Silent_p.K61K|RRBP1_uc002wpy.2_Silent_p.K61K	NM_001042576	NP_004578	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	516	Cytoplasmic (Potential).|32.|41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1														0.188406	24.530169	30.805083	13	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	17588970	17588970	14158	20	C	T	T	32	32	RRBP1	T	2	2
OVOL2	58495	broad.mit.edu	36	20	17970236	17970236	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:17970236G>T	uc002wqi.1	-	c.453C>A	c.(451-453)TTC>TTA	p.F151L		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	zinc finger protein 339	151	C2H2-type 2.				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus|nucleus	DNA binding|promoter binding|zinc ion binding			central_nervous_system(1)	1														0.212389	46.328422	54.978948	24	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17970236	17970236	11740	20	G	T	T	33	33	OVOL2	T	3	3
CSRP2BP	57325	broad.mit.edu	36	20	18091041	18091041	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18091041G>A	uc002wqj.1	+	c.1123G>A	c.(1123-1125)GAT>AAT	p.D375N	CSRP2BP_uc002wqk.1_Missense_Mutation_p.D247N	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein isoform a	375					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			ovary(2)	2														0.386503	171.183421	173.024414	63	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18091041	18091041	4109	20	G	A	A	37	37	CSRP2BP	A	1	1
CSRP2BP	57325	broad.mit.edu	36	20	18111902	18111902	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18111902C>A	uc002wqj.1	+	c.1944C>A	c.(1942-1944)ATC>ATA	p.I648I	CSRP2BP_uc002wqk.1_Silent_p.I520I	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein isoform a	648	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			ovary(2)	2														0.410959	235.289728	236.810174	90	129	CC		KEEP	---	---	---	---	capture			Silent	SNP	18111902	18111902	4109	20	C	A	A	30	30	CSRP2BP	A	3	3
C20orf12	55184	broad.mit.edu	36	20	18318375	18318375	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18318375C>T	uc002wqq.2	-	c.1988G>A	c.(1987-1989)AGA>AAA	p.R663K	C20orf12_uc002wqp.2_Missense_Mutation_p.R373K|C20orf12_uc002wqr.2_Non-coding_Transcript|C20orf12_uc002wqs.2_Missense_Mutation_p.R549K	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	490	ANK 2.					intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)												0.185185	76.460789	96.545165	40	176	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18318375	18318375	2161	20	C	T	T	32	32	C20orf12	T	2	2
C20orf12	55184	broad.mit.edu	36	20	18322406	18322406	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18322406C>T	uc002wqq.2	-	c.1758G>A	c.(1756-1758)AGG>AGA	p.R586R	C20orf12_uc002wqp.2_Silent_p.R296R|C20orf12_uc002wqr.2_Non-coding_Transcript|C20orf12_uc002wqs.2_Silent_p.R472R	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	413						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)												0.457143	141.686258	141.854451	48	57	CC		KEEP	---	---	---	---	capture			Silent	SNP	18322406	18322406	2161	20	C	T	T	30	30	C20orf12	T	2	2
C20orf12	55184	broad.mit.edu	36	20	18327232	18327232	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18327232G>A	uc002wqq.2	-	c.1471C>T	c.(1471-1473)CTC>TTC	p.L491F	C20orf12_uc002wqp.2_Missense_Mutation_p.L201F|C20orf12_uc002wqr.2_Non-coding_Transcript|C20orf12_uc002wqs.2_Missense_Mutation_p.L377F	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	318						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)												0.197531	150.005243	177.614866	64	260	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18327232	18327232	2161	20	G	A	A	35	35	C20orf12	A	2	2
RBBP9	10741	broad.mit.edu	36	20	18424488	18424488	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18424488C>T	uc002wqy.1	-	c.136G>A	c.(136-138)GAC>AAC	p.D46N		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	46						cytoplasm|nucleus	hydrolase activity				0														0.387097	132.867765	134.254017	48	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18424488	18424488	13567	20	C	T	T	31	31	RBBP9	T	1	1
SEC23B	10483	broad.mit.edu	36	20	18454519	18454519	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18454519G>A	uc002wqz.1	+	c.777G>A	c.(775-777)GGG>GGA	p.G259G	SEC23B_uc002wra.1_Silent_p.G259G|SEC23B_uc002wrb.1_Silent_p.G259G|SEC23B_uc002wrc.1_Silent_p.G259G	NM_006363	NP_116781	Q15437	SC23B_HUMAN	Sec23 homolog B	259					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1														0.433566	170.122336	170.673091	62	81	GG		KEEP	---	---	---	---	capture			Silent	SNP	18454519	18454519	14478	20	G	A	A	41	41	SEC23B	A	2	2
SEC23B	10483	broad.mit.edu	36	20	18479778	18479778	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18479778C>A	uc002wqz.1	+	c.1951C>A	c.(1951-1953)CTG>ATG	p.L651M	SEC23B_uc002wra.1_Missense_Mutation_p.L651M|SEC23B_uc002wrb.1_Missense_Mutation_p.L651M|SEC23B_uc002wrc.1_Missense_Mutation_p.L651M	NM_006363	NP_116781	Q15437	SC23B_HUMAN	Sec23 homolog B	651					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1														0.263158	116.049929	125.699582	50	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18479778	18479778	14478	20	C	A	A	28	28	SEC23B	A	3	3
PDYN	5173	broad.mit.edu	36	20	1911660	1911660	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:1911660G>A	uc010gaj.1	-	c.71C>T	c.(70-72)TCG>TTG	p.S24L	PDYN_uc002wfv.1_Missense_Mutation_p.S24L	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	24					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			ovary(1)	1														0.301724	87.994924	92.059279	35	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1911660	1911660	12120	20	G	A	A	37	37	PDYN	A	1	1
SLC24A3	57419	broad.mit.edu	36	20	19513615	19513615	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:19513615C>T	uc002wrl.1	+	c.424C>T	c.(424-426)CGC>TGC	p.R142C		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	142	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1														0.130435	25.566964	50.028208	24	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19513615	19513615	14964	20	C	T	T	27	27	SLC24A3	T	1	1
SLC24A3	57419	broad.mit.edu	36	20	19582768	19582768	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:19582768C>T	uc002wrl.1	+	c.675C>T	c.(673-675)ATC>ATT	p.I225I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	225	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1														0.251232	113.322305	124.743681	51	152	CC		KEEP	---	---	---	---	capture			Silent	SNP	19582768	19582768	14964	20	C	T	T	31	31	SLC24A3	T	1	1
RIN2	54453	broad.mit.edu	36	20	19920826	19920826	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:19920826G>A	uc002wro.1	+	c.2083G>A	c.(2083-2085)GCT>ACT	p.A695T	RIN2_uc010gcu.1_Missense_Mutation_p.A262T|RIN2_uc010gcv.1_Missense_Mutation_p.A489T	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	695	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(1)	1														0.142857	9.691756	15.716143	7	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19920826	19920826	13849	20	G	A	A	38	38	RIN2	A	1	1
CRNKL1	51340	broad.mit.edu	36	20	19969357	19969357	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:19969357C>A	uc002wrs.1	-	c.1761G>T	c.(1759-1761)AAG>AAT	p.K587N		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	587	HAT 11.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3														0.20098	76.246781	93.218821	41	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19969357	19969357	4030	20	C	A	A	32	32	CRNKL1	A	3	3
C20orf26	26074	broad.mit.edu	36	20	20098066	20098066	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:20098066G>A	uc002wru.1	+	c.1347G>A	c.(1345-1347)GAG>GAA	p.E449E		NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	449										ovary(3)|pancreas(1)	4														0.391837	266.53234	269.046249	96	149	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.171)	Silent	SNP	20098066	20098066	2186	20	G	A	A	34	34	C20orf26	A	2	2
C20orf26	26074	broad.mit.edu	36	20	20174858	20174858	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:20174858G>A	uc002wru.1	+	c.2158G>A	c.(2158-2160)GAC>AAC	p.D720N	C20orf26_uc002wrv.2_Missense_Mutation_p.D76N|C20orf26_uc002wrw.1_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	720										ovary(3)|pancreas(1)	4														0.262295	111.004847	120.369013	48	135	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.171)	Missense_Mutation	SNP	20174858	20174858	2186	20	G	A	A	37	37	C20orf26	A	1	1
STK35	140901	broad.mit.edu	36	20	2045723	2045723	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2045723C>T	uc010gak.1	+	c.905C>T	c.(904-906)GCG>GTG	p.A302V	STK35_uc002wfw.2_Missense_Mutation_p.A302V	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	435	Protein kinase.				protein phosphorylation	cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1										88				0.435714	163.489495	163.984857	61	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2045723	2045723	15821	20	C	T	T	27	27	STK35	T	1	1
RALGAPA2	57186	broad.mit.edu	36	20	20501705	20501705	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:20501705G>A	uc002wrz.1	-	c.2715C>T	c.(2713-2715)AGC>AGT	p.S905S	RALGAPA2_uc010gcx.1_Silent_p.S609S	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	905					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1														0.5	75.417426	75.417426	27	27	GG		KEEP	---	---	---	---	capture			Silent	SNP	20501705	20501705	13474	20	G	A	A	38	38	RALGAPA2	A	1	1
PLK1S1	55857	broad.mit.edu	36	20	21091103	21091103	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:21091103A>G	uc002wsb.1	+	c.997A>G	c.(997-999)AAT>GAT	p.N333D	PLK1S1_uc010gcy.1_Non-coding_Transcript|PLK1S1_uc002wsd.1_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	non-protein coding RNA 153	333					spindle organization	centrosome	protein kinase binding				0														0.114754	11.582704	20.501226	7	54	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21091103	21091103	12521	20	A	G	G	1	1	PLK1S1	G	4	4
XRN2	22803	broad.mit.edu	36	20	21257282	21257282	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:21257282G>A	uc002wsf.1	+	c.401G>A	c.(400-402)CGA>CAA	p.R134Q	XRN2_uc002wsg.1_Missense_Mutation_p.R58Q	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	134					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding				0														0.387097	65.982022	66.675794	24	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21257282	21257282	18043	20	G	A	A	37	37	XRN2	A	1	1
XRN2	22803	broad.mit.edu	36	20	21272762	21272762	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:21272762C>A	uc002wsf.1	+	c.1445C>A	c.(1444-1446)TCT>TAT	p.S482Y	XRN2_uc002wsg.1_Missense_Mutation_p.S406Y	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	482					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding				0														0.202335	99.033219	120.209999	52	205	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21272762	21272762	18043	20	C	A	A	32	32	XRN2	A	3	3
PAX1	5075	broad.mit.edu	36	20	21635139	21635139	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:21635139A>G	uc002wsj.2	+	c.68A>G	c.(67-69)AAC>AGC	p.N23S		NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	117	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			kidney(1)	1														0.220339	62.196431	70.689393	26	92	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21635139	21635139	11898	20	A	G	G	2	2	PAX1	G	4	4
TGM3	7053	broad.mit.edu	36	20	2260781	2260781	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2260781C>T	uc002wfx.2	+	c.1467C>T	c.(1465-1467)GTC>GTT	p.V489V		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	489					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)	8					L-Glutamine(DB00130)									0.22549	49.776771	56.834611	23	79	CC		KEEP	---	---	---	---	capture			Silent	SNP	2260781	2260781	16359	20	C	T	T	31	31	TGM3	T	1	1
TGM3	7053	broad.mit.edu	36	20	2263864	2263864	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2263864C>A	uc002wfx.2	+	c.1745C>A	c.(1744-1746)TCT>TAT	p.S582Y		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	582					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)	8					L-Glutamine(DB00130)									0.252033	133.411228	147.170019	62	184	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2263864	2263864	16359	20	C	A	A	32	32	TGM3	A	3	3
THBD	7056	broad.mit.edu	36	20	22978123	22978123	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:22978123G>T	uc002wss.1	-	c.19C>A	c.(19-21)CTT>ATT	p.L7I	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_5'UTR	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	7					blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)									0.375	7.021091	7.131484	3	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22978123	22978123	16380	20	G	T	T	35	35	THBD	T	3	3
TGM6	343641	broad.mit.edu	36	20	2328266	2328266	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2328266C>T	uc002wfy.1	+	c.732C>T	c.(730-732)GGC>GGT	p.G244G	TGM6_uc010gal.1_Silent_p.G244G	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	244					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)	3					L-Glutamine(DB00130)									0.530303	201.054924	201.160943	70	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	2328266	2328266	16362	20	C	T	T	27	27	TGM6	T	1	1
GZF1	64412	broad.mit.edu	36	20	23293986	23293986	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:23293986C>T	uc010gdb.1	+	c.966C>T	c.(964-966)TGC>TGT	p.C322C	GZF1_uc002wsy.1_Silent_p.C322C|GZF1_uc002wsz.1_Silent_p.C322C	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	322	C2H2-type 1.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)													0.265403	124.601338	135.102063	56	155	CC		KEEP	---	---	---	---	capture			Silent	SNP	23293986	23293986	7194	20	C	T	T	27	27	GZF1	T	1	1
GZF1	64412	broad.mit.edu	36	20	23294256	23294256	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:23294256C>T	uc010gdb.1	+	c.1236C>T	c.(1234-1236)TGC>TGT	p.C412C	GZF1_uc002wsy.1_Silent_p.C412C|GZF1_uc002wsz.1_Silent_p.C412C	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	412	C2H2-type 4.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)													0.496	173.459276	173.460707	62	63	CC		KEEP	---	---	---	---	capture			Silent	SNP	23294256	23294256	7194	20	C	T	T	27	27	GZF1	T	1	1
CSTL1	128817	broad.mit.edu	36	20	23373407	23373407	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:23373407G>A	uc002wte.1	+	c.331_splice	c.e4-1	p.S111_splice		NM_138283	NP_612140			cystatin-like 1 precursor							extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)													0.201754	53.256135	62.681505	23	91	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	23373407	23373407	4128	20	G	A	A	33	33	CSTL1	A	5	2
CST8	10047	broad.mit.edu	36	20	23421678	23421678	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:23421678C>T	uc002wth.1	+	c.315C>T	c.(313-315)TGC>TGT	p.C105C		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	105						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)													0.22973	146.668744	166.480825	68	228	CC		KEEP	---	---	---	---	capture			Silent	SNP	23421678	23421678	4119	20	C	T	T	27	27	CST8	T	1	1
CST3	1471	broad.mit.edu	36	20	23562637	23562637	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:23562637C>A	uc002wtm.2	-	c.358_splice	c.e3-1	p.K120_splice	CST3_uc002wtn.1_Intron	NM_000099	NP_000090			cystatin C precursor						defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly|negative regulation of histolysis	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			ovary(1)	1	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)													0.408696	122.57602	123.419937	47	68	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	23562637	23562637	4114	20	C	A	A	32	32	CST3	A	5	3
CST1	1469	broad.mit.edu	36	20	23679353	23679353	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:23679353C>T	uc002wtp.1	-	c.151G>A	c.(151-153)GCC>ACC	p.A51T		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	51						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)													0.174497	43.173147	58.064617	26	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23679353	23679353	4111	20	C	T	T	27	27	CST1	T	1	1
GGTLC1	92086	broad.mit.edu	36	20	23914596	23914596	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:23914596G>A	uc002wts.1	-	c.320C>T	c.(319-321)TCG>TTG	p.S107L	GGTLC1_uc002wtt.1_Missense_Mutation_p.S107L|GGTLC1_uc002wtu.1_Missense_Mutation_p.S107L	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	107							gamma-glutamyltransferase activity			ovary(1)	1														0.423913	212.807773	213.739019	78	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23914596	23914596	6633	20	G	A	A	37	37	GGTLC1	A	1	1
ZNF343	79175	broad.mit.edu	36	20	2422494	2422494	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2422494C>A	uc002wge.1	-	c.48G>T	c.(46-48)GAG>GAT	p.E16D	ZNF343_uc002wgd.1_5'Flank|ZNF343_uc010gao.1_Missense_Mutation_p.E16D	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.182741	123.125933	160.423025	72	322	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2422494	2422494	18450	20	C	A	A	32	32	ZNF343	A	3	3
C20orf3	57136	broad.mit.edu	36	20	24900135	24900135	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:24900135C>T	uc002wtz.1	-	c.499G>A	c.(499-501)GAT>AAT	p.D167N	C20orf3_uc002wty.1_Missense_Mutation_p.D167N	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	chromosome 20 open reading frame 3	167	Extracellular (Potential).				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			ovary(1)	1														0.245161	86.267752	95.441706	38	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24900135	24900135	2189	20	C	T	T	31	31	C20orf3	T	1	1
TMC2	117532	broad.mit.edu	36	20	2500878	2500878	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2500878G>A	uc002wgf.1	+	c.608G>A	c.(607-609)GGC>GAC	p.G203D	TMC2_uc002wgg.1_Missense_Mutation_p.G187D|TMC2_uc010gap.1_Missense_Mutation_p.G35D	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	203	Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential).					integral to membrane				ovary(3)	3														0.407143	155.439108	156.495985	57	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2500878	2500878	16515	20	G	A	A	42	42	TMC2	A	2	2
TMC2	117532	broad.mit.edu	36	20	2507834	2507834	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2507834C>A	uc002wgf.1	+	c.688C>A	c.(688-690)CAA>AAA	p.Q230K	TMC2_uc002wgg.1_Missense_Mutation_p.Q214K|TMC2_uc010gap.1_Missense_Mutation_p.Q62K	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	230	Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential).					integral to membrane				ovary(3)	3														0.505376	133.312835	133.315017	47	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2507834	2507834	16515	20	C	A	A	29	29	TMC2	A	3	3
ENTPD6	955	broad.mit.edu	36	20	25145351	25145351	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25145351C>T	uc002wuj.2	+	c.777C>T	c.(775-777)ATC>ATT	p.I259I	ENTPD6_uc010gdj.1_Silent_p.I231I|ENTPD6_uc002wum.2_Silent_p.I242I|ENTPD6_uc002wun.2_Silent_p.I259I|ENTPD6_uc002wuk.2_Silent_p.I258I|ENTPD6_uc002wul.2_Silent_p.I258I|ENTPD6_uc002wuo.2_Silent_p.I11I	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	259	Lumenal (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0														0.318182	16.71801	17.364106	7	15	CC		KEEP	---	---	---	---	capture			Silent	SNP	25145351	25145351	5336	20	C	T	T	31	31	ENTPD6	T	1	1
ENTPD6	955	broad.mit.edu	36	20	25152774	25152774	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25152774C>T	uc002wuj.2	+	c.1224C>T	c.(1222-1224)TTC>TTT	p.F408F	ENTPD6_uc002wum.2_Silent_p.F391F|ENTPD6_uc002wun.2_Silent_p.F374F|ENTPD6_uc002wuk.2_Silent_p.F407F|ENTPD6_uc002wul.2_Silent_p.F407F|ENTPD6_uc002wuo.2_Silent_p.F160F|ENTPD6_uc010gdk.1_Non-coding_Transcript|ENTPD6_uc010gdl.1_Non-coding_Transcript	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	408	Lumenal (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0														0.446281	148.825639	149.130548	54	67	CC		KEEP	---	---	---	---	capture			Silent	SNP	25152774	25152774	5336	20	C	T	T	31	31	ENTPD6	T	1	1
PYGB	5834	broad.mit.edu	36	20	25221089	25221089	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25221089G>A	uc002wup.1	+	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	673					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)	1					Pyridoxal Phosphate(DB00114)									0.451064	295.511692	296.002158	106	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25221089	25221089	13318	20	G	A	A	37	37	PYGB	A	1	1
ABHD12	26090	broad.mit.edu	36	20	25237111	25237111	+	Missense_Mutation	SNP	G	A	A	rs41306784	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25237111G>A	uc002wuq.1	-	c.769C>T	c.(769-771)CGG>TGG	p.R257W	ABHD12_uc002wur.1_Missense_Mutation_p.R257W|ABHD12_uc002wus.1_Missense_Mutation_p.R257W|ABHD12_uc002wut.1_Missense_Mutation_p.R257W|ABHD12_uc002wuu.1_Missense_Mutation_p.R38W	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform b	257	Extracellular (Potential).				response to stimulus|visual perception	integral to membrane	acylglycerol lipase activity				0														0.613636	79.629687	80.126831	27	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25237111	25237111	77	20	G	A	A	38	38	ABHD12	A	1	1
GINS1	9837	broad.mit.edu	36	20	25345817	25345817	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25345817G>A	uc002wuv.1	+	c.218G>A	c.(217-219)CGA>CAA	p.R73Q		NM_021067	NP_066545	Q14691	PSF1_HUMAN	DNA replication complex GINS protein PSF1	73					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				ovary(1)|central_nervous_system(1)	2														0.256637	66.594305	72.687871	29	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25345817	25345817	6655	20	G	A	A	37	37	GINS1	A	1	1
NINL	22981	broad.mit.edu	36	20	25405542	25405542	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25405542G>A	uc002wux.1	-	c.2385C>T	c.(2383-2385)CGC>CGT	p.R795R	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	795					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.229885	38.756927	44.580186	20	67	GG		KEEP	---	---	---	---	capture			Silent	SNP	25405542	25405542	10821	20	G	A	A	38	38	NINL	A	1	1
NANP	140838	broad.mit.edu	36	20	25544944	25544944	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25544944G>A	uc002wuy.1	-	c.364C>T	c.(364-366)CGA>TGA	p.R122*		NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	122					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity				0														0.232804	97.698666	110.057965	44	145	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	25544944	25544944	10550	20	G	A	A	37	37	NANP	A	5	1
ZNF337	26152	broad.mit.edu	36	20	25603932	25603932	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25603932G>A	uc002wva.1	-	c.1992C>T	c.(1990-1992)GGC>GGT	p.G664G	ZNF337_uc002wvb.1_Silent_p.G664G|ZNF337_uc002wvc.1_Silent_p.G664G	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	664	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.393665	241.862978	244.054744	87	134	GG		KEEP	---	---	---	---	capture			Silent	SNP	25603932	25603932	18445	20	G	A	A	34	34	ZNF337	A	2	2
FAM113A	64773	broad.mit.edu	36	20	2767385	2767385	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2767385G>A	uc002wgz.1	-	c.451C>T	c.(451-453)CGC>TGC	p.R151C	FAM113A_uc002wha.1_Silent_p.V2V|FAM113A_uc002whb.1_Silent_p.V2V|FAM113A_uc002whc.1_Missense_Mutation_p.R100C|VPS16_uc002whe.1_5'Flank|VPS16_uc002whf.1_5'Flank|VPS16_uc002whd.1_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	151							hydrolase activity|protein binding			ovary(2)	2														0.460976	527.714452	528.258831	189	221	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2767385	2767385	5598	20	G	A	A	37	37	FAM113A	A	1	1
FAM113A	64773	broad.mit.edu	36	20	2767590	2767590	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2767590G>A	uc002wgz.1	-	c.343C>T	c.(343-345)CGT>TGT	p.R115C	FAM113A_uc002wha.1_5'UTR|FAM113A_uc002whb.1_Intron|FAM113A_uc002whc.1_Intron|VPS16_uc002whe.1_5'Flank|VPS16_uc002whf.1_5'Flank|VPS16_uc002whd.1_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	115							hydrolase activity|protein binding			ovary(2)	2														0.217544	127.233447	148.181376	62	223	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2767590	2767590	5598	20	G	A	A	37	37	FAM113A	A	1	1
VPS16	64601	broad.mit.edu	36	20	2790745	2790745	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2790745C>T	uc002whe.1	+	c.1040C>T	c.(1039-1041)GCG>GTG	p.A347V	PTPRA_uc002whj.1_5'Flank|VPS16_uc002whf.1_Intron|VPS16_uc002whd.1_Non-coding_Transcript|VPS16_uc002whg.1_5'Flank|VPS16_uc002whh.1_5'Flank|VPS16_uc002whi.1_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	347					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)	3														0.410714	60.508985	60.900096	23	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2790745	2790745	17760	20	C	T	T	27	27	VPS16	T	1	1
VPS16	64601	broad.mit.edu	36	20	2791299	2791299	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2791299G>T	uc002whe.1	+	c.1146G>T	c.(1144-1146)CAG>CAT	p.Q382H	PTPRA_uc002whj.1_5'Flank|VPS16_uc002whf.1_Intron|VPS16_uc002whd.1_Intron|VPS16_uc002whg.1_Missense_Mutation_p.Q36H|VPS16_uc002whh.1_5'Flank|VPS16_uc002whi.1_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	382					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)	3														0.180952	37.761029	47.808923	19	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2791299	2791299	17760	20	G	T	T	36	36	VPS16	T	3	3
NRSN2	80023	broad.mit.edu	36	20	282069	282069	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:282069C>A	uc002wdi.2	+	c.405C>A	c.(403-405)TTC>TTA	p.F135L	NRSN2_uc002wdj.1_Non-coding_Transcript|NRSN2_uc002wdk.1_Missense_Mutation_p.F135L|NRSN2_uc002wdl.1_Intron	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	neurensin 2	135	Helical; (Potential).					integral to membrane|plasma membrane|transport vesicle					0		all_cancers(10;0.0834)												0.460317	149.990301	150.167169	58	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	282069	282069	11068	20	C	A	A	32	32	NRSN2	A	3	3
DEFB116	245930	broad.mit.edu	36	20	29359990	29359990	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:29359990C>A	uc002wvq.1	-	c.60G>T	c.(58-60)AAG>AAT	p.K20N		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	beta-defensin 116	20					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)													0.44473	458.532929	459.580048	173	216	CC		KEEP	---	---	---	---	capture	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		Missense_Mutation	SNP	29359990	29359990	4582	20	C	A	A	32	32	DEFB116	A	3	3
DEFB119	245932	broad.mit.edu	36	20	29440631	29440631	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:29440631C>T	uc002wvu.1	-	c.125G>A	c.(124-126)CGC>CAC	p.R42H	DEFB119_uc002wvs.1_Intron|DEFB119_uc002wvt.1_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	defensin, beta 119 isoform c precursor	48					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)													0.175676	87.767938	117.097541	52	244	CC		KEEP	---	---	---	---	capture	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		Missense_Mutation	SNP	29440631	29440631	4584	20	C	T	T	27	27	DEFB119	T	1	1
REM1	28954	broad.mit.edu	36	20	29535711	29535711	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:29535711C>T	uc002wwa.1	+	c.714C>T	c.(712-714)GGC>GGT	p.G238G		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	238					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			pancreas(2)	2	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)									265				0.588235	29.65267	29.768634	10	7	CC		KEEP	---	---	---	---	capture	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		Silent	SNP	29535711	29535711	13691	20	C	T	T	27	27	REM1	T	1	1
HM13	81502	broad.mit.edu	36	20	29589687	29589687	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:29589687C>A	uc002wwc.1	+	c.327C>A	c.(325-327)TTC>TTA	p.F109L	HM13_uc002wwb.1_Missense_Mutation_p.F109L|HM13_uc002wwd.1_Missense_Mutation_p.F109L|HM13_uc002wwe.1_Missense_Mutation_p.F109L	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 3	109	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)													0.205224	106.258028	127.87844	55	213	CC		KEEP	---	---	---	---	capture	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		Missense_Mutation	SNP	29589687	29589687	7508	20	C	A	A	32	32	HM13	A	3	3
PTPRA	5786	broad.mit.edu	36	20	2964538	2964538	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2964538C>T	uc002whj.1	+	c.2149C>T	c.(2149-2151)CAG>TAG	p.Q717*	PTPRA_uc002whk.1_Nonsense_Mutation_p.Q708*|PTPRA_uc002whl.1_Nonsense_Mutation_p.Q708*|PTPRA_uc002whm.1_Nonsense_Mutation_p.Q484*|PTPRA_uc002whn.1_Nonsense_Mutation_p.Q708*|PTPRA_uc002who.1_Nonsense_Mutation_p.Q380*	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	717	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity				0														0.204724	92.384845	112.94625	52	202	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	2964538	2964538	13252	20	C	T	T	25	25	PTPRA	T	5	2
PTPRA	5786	broad.mit.edu	36	20	2966746	2966746	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2966746T>C	uc002whj.1	+	c.2376T>C	c.(2374-2376)ATT>ATC	p.I792I	PTPRA_uc002whk.1_Silent_p.I783I|PTPRA_uc002whl.1_Silent_p.I783I|PTPRA_uc002whm.1_Silent_p.I559I|PTPRA_uc002whn.1_Silent_p.I783I|PTPRA_uc002who.1_Silent_p.I455I	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	792	Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity				0														0.207692	65.06577	75.346069	27	103	TT		KEEP	---	---	---	---	capture			Silent	SNP	2966746	2966746	13252	20	T	C	C	63	63	PTPRA	C	4	4
GNRH2	2797	broad.mit.edu	36	20	2973406	2973406	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2973406A>G	uc002whr.1	+	c.236A>G	c.(235-237)GAC>GGC	p.D79G	GNRH2_uc002whp.1_Missense_Mutation_p.D72G|GNRH2_uc002whq.1_Missense_Mutation_p.D71G|GNRH2_uc010gau.1_Missense_Mutation_p.D79G|MRPS26_uc002whs.1_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2 isoform a	79					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity				0														0.136364	10.823531	16.453567	6	38	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2973406	2973406	6817	20	A	G	G	10	10	GNRH2	G	4	4
MYLK2	85366	broad.mit.edu	36	20	29882336	29882336	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:29882336C>T	uc002wwq.2	+	c.1278C>T	c.(1276-1278)GAC>GAT	p.D426D	MYLK2_uc002wws.2_Silent_p.D43D|MYLK2_uc010gdw.1_5'Flank	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	426	Protein kinase.				cardiac muscle contraction|cardiac muscle tissue morphogenesis|regulation of muscle filament sliding	sarcomere	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6										150				0.195652	154.573485	186.363711	72	296	CC		KEEP	---	---	---	---	capture	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		Silent	SNP	29882336	29882336	10452	20	C	T	T	20	20	MYLK2	T	2	2
FOXS1	2307	broad.mit.edu	36	20	29896070	29896070	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:29896070G>A	uc002wwt.1	-	c.937C>T	c.(937-939)CCA>TCA	p.P313S		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	313					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|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 enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1														0.266667	92.129569	98.776978	36	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29896070	29896070	6281	20	G	A	A	43	43	FOXS1	A	2	2
FOXS1	2307	broad.mit.edu	36	20	29896672	29896672	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:29896672C>T	uc002wwt.1	-	c.335G>A	c.(334-336)CGC>CAC	p.R112H		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	112					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|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 enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1														0.243243	17.958799	20.182213	9	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29896672	29896672	6281	20	C	T	T	27	27	FOXS1	T	1	1
TTLL9	164395	broad.mit.edu	36	20	29985305	29985305	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:29985305G>A	uc010gdx.1	+	c.790G>A	c.(790-792)GAC>AAC	p.D264N	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc002wxc.1_Missense_Mutation_p.D166N	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	264	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2														0.223881	30.189243	34.887068	15	52	GG		KEEP	---	---	---	---	capture	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		Missense_Mutation	SNP	29985305	29985305	17289	20	G	A	A	37	37	TTLL9	A	1	1
TM9SF4	9777	broad.mit.edu	36	20	30202092	30202092	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30202092C>A	uc002wxj.2	+	c.1094C>A	c.(1093-1095)GCC>GAC	p.A365D	TM9SF4_uc002wxk.2_Missense_Mutation_p.A348D|TM9SF4_uc010gdz.1_Missense_Mutation_p.A272D	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	365	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2														0.154185	55.302411	81.238229	35	192	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Missense_Mutation	SNP	30202092	30202092	16510	20	C	A	A	26	26	TM9SF4	A	3	3
PLAGL2	5326	broad.mit.edu	36	20	30248819	30248819	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30248819G>A	uc002wxn.2	-	c.588C>T	c.(586-588)TGC>TGT	p.C196C		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	196	C2H2-type 5.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						Colon(163;15 1893 11280 16306 47518)								0.289474	26.411882	27.920278	11	27	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Silent	SNP	30248819	30248819	12446	20	G	A	A	38	38	PLAGL2	A	1	1
PLAGL2	5326	broad.mit.edu	36	20	30253543	30253543	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30253543C>T	uc002wxn.2	-	c.100G>A	c.(100-102)GCG>ACG	p.A34T		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	34					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						Colon(163;15 1893 11280 16306 47518)								0.192661	81.624904	100.855141	42	176	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Missense_Mutation	SNP	30253543	30253543	12446	20	C	T	T	26	26	PLAGL2	T	2	2
KIF3B	9371	broad.mit.edu	36	20	30362093	30362093	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30362093C>T	uc002wxq.1	+	c.852C>T	c.(850-852)GAC>GAT	p.D284D		NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	284	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|mitotic spindle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			central_nervous_system(3)|ovary(2)	5														0.377622	141.907021	143.78897	54	89	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Silent	SNP	30362093	30362093	8612	20	C	T	T	19	19	KIF3B	T	1	1
ASXL1	171023	broad.mit.edu	36	20	30488391	30488391	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30488391C>A	uc002wxs.1	+	c.4215C>A	c.(4213-4215)GTC>GTA	p.V1405V	ASXL1_uc010gea.1_Silent_p.V1405V|ASXL1_uc010geb.1_Silent_p.V1296V	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1	1405					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(131)|large_intestine(6)|central_nervous_system(2)|ovary(1)	140														0.49345	627.176263	627.194281	226	232	CC		KEEP	---	---	---	---	capture			Silent	SNP	30488391	30488391	1085	20	C	A	A	29	29	ASXL1	A	3	3
ASXL1	171023	broad.mit.edu	36	20	30488517	30488517	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30488517C>T	uc002wxs.1	+	c.4341C>T	c.(4339-4341)CTC>CTT	p.L1447L	ASXL1_uc010gea.1_Silent_p.L1447L|ASXL1_uc010geb.1_Silent_p.L1338L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1	1447					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(131)|large_intestine(6)|central_nervous_system(2)|ovary(1)	140														0.158672	72.642305	102.744242	43	228	CC		KEEP	---	---	---	---	capture			Silent	SNP	30488517	30488517	1085	20	C	T	T	30	30	ASXL1	T	2	2
UBOX5	22888	broad.mit.edu	36	20	3051212	3051212	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3051212C>T	uc002whw.1	-	c.73G>A	c.(73-75)GAA>AAA	p.E25K	UBOX5_uc002whx.1_Missense_Mutation_p.E25K|UBOX5_uc002why.1_Missense_Mutation_p.E25K	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	25						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2														0.188889	31.104058	39.285743	17	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3051212	3051212	17452	20	C	T	T	31	31	UBOX5	T	1	1
FASTKD5	60493	broad.mit.edu	36	20	3075867	3075867	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3075867C>A	uc002whz.1	-	c.1850G>T	c.(1849-1851)AGG>ATG	p.R617M	UBOX5_uc002whw.1_Intron|UBOX5_uc002whx.1_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc010gav.1_Missense_Mutation_p.R617M	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	617					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0														0.431818	315.38891	316.462446	114	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3075867	3075867	5924	20	C	A	A	24	24	FASTKD5	A	3	3
FASTKD5	60493	broad.mit.edu	36	20	3076950	3076950	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3076950C>T	uc002whz.1	-	c.767G>A	c.(766-768)CGC>CAC	p.R256H	UBOX5_uc002whw.1_Intron|UBOX5_uc002whx.1_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc010gav.1_Missense_Mutation_p.R256H	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	256					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0														0.196429	41.78586	51.40644	22	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3076950	3076950	5924	20	C	T	T	27	27	FASTKD5	T	1	1
FASTKD5	60493	broad.mit.edu	36	20	3077554	3077554	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3077554T>G	uc002whz.1	-	c.163A>C	c.(163-165)AAA>CAA	p.K55Q	UBOX5_uc002whw.1_Intron|UBOX5_uc002whx.1_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc010gav.1_Missense_Mutation_p.K55Q	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	55					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0														0.252427	148.712593	160.170683	52	154	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3077554	3077554	5924	20	T	G	G	64	64	FASTKD5	G	4	4
DNMT3B	1789	broad.mit.edu	36	20	30852353	30852353	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30852353G>A	uc002wyc.1	+	c.1957G>A	c.(1957-1959)GAT>AAT	p.D653N	DNMT3B_uc002wyd.1_Missense_Mutation_p.D633N|DNMT3B_uc002wye.1_Missense_Mutation_p.D633N|DNMT3B_uc010gee.1_Non-coding_Transcript|DNMT3B_uc010gef.1_Non-coding_Transcript|DNMT3B_uc002wyf.1_Missense_Mutation_p.D645N|DNMT3B_uc002wyg.1_Missense_Mutation_p.D352N|DNMT3B_uc010geg.1_5'UTR|DNMT3B_uc010geh.1_Non-coding_Transcript	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	653					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		protein binding|transcription corepressor activity|zinc ion binding			ovary(2)|lung(1)	3										1211				0.190104	137.672413	172.148579	73	311	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30852353	30852353	4860	20	G	A	A	37	37	DNMT3B	A	1	1
SUN5	140732	broad.mit.edu	36	20	31047120	31047120	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31047120G>A	uc002wyi.1	-	c.500C>T	c.(499-501)GCC>GTC	p.A167V		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	167	Potential.				spermatogenesis						0														0.187359	150.572789	191.133243	83	360	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31047120	31047120	15914	20	G	A	A	42	42	SUN5	A	2	2
BPIL3	128859	broad.mit.edu	36	20	31090943	31090943	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31090943C>T	uc002wyk.1	+	c.1030C>T	c.(1030-1032)CGG>TGG	p.R344W	BPIL3_uc002wyl.1_Missense_Mutation_p.R283W	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	344						extracellular region	lipid binding			ovary(1)|pancreas(1)	2														0.17847	114.261382	148.504841	63	290	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31090943	31090943	1521	20	C	T	T	31	31	BPIL3	T	1	1
C20orf185	359710	broad.mit.edu	36	20	31106924	31106924	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31106924C>T	uc002wym.1	+	c.34C>T	c.(34-36)CTT>TTT	p.L12F		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3	12	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4														0.2	111.347165	133.118806	52	208	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31106924	31106924	2175	20	C	T	T	28	28	C20orf185	T	2	2
C20orf185	359710	broad.mit.edu	36	20	31108077	31108077	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31108077C>T	uc002wym.1	+	c.193C>T	c.(193-195)CGG>TGG	p.R65W		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3	65	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4														0.207207	100.552547	118.16998	46	176	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31108077	31108077	2175	20	C	T	T	23	23	C20orf185	T	1	1
C20orf185	359710	broad.mit.edu	36	20	31115088	31115088	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31115088C>A	uc002wym.1	+	c.598C>A	c.(598-600)CCC>ACC	p.P200T		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3	200	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4														0.149194	51.091379	80.400285	37	211	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31115088	31115088	2175	20	C	A	A	22	22	C20orf185	A	3	3
C20orf185	359710	broad.mit.edu	36	20	31124255	31124255	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31124255G>A	uc002wym.1	+	c.1396G>A	c.(1396-1398)GTA>ATA	p.V466I		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3	466					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4														0.206704	71.058965	85.357173	37	142	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31124255	31124255	2175	20	G	A	A	40	40	C20orf185	A	1	1
C20orf71	128861	broad.mit.edu	36	20	31276637	31276637	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31276637C>T	uc002wyr.1	+	c.459C>T	c.(457-459)GAC>GAT	p.D153D	C20orf71_uc002wys.1_Silent_p.D117D	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	short long palate, lung and nasal epithelium	153						extracellular region	lipid binding			ovary(1)	1														0.20678	114.633994	138.146455	61	234	CC		KEEP	---	---	---	---	capture			Silent	SNP	31276637	31276637	2197	20	C	T	T	19	19	C20orf71	T	1	1
DDRGK1	65992	broad.mit.edu	36	20	3128717	3128717	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3128717C>T	uc002wic.1	-	c.440G>A	c.(439-441)CGA>CAA	p.R147Q	DDRGK1_uc010gaw.1_Non-coding_Transcript|DDRGK1_uc010gax.1_Missense_Mutation_p.R147Q	NM_023935	NP_076424	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	147						endoplasmic reticulum	protein binding				0														0.3125	63.053179	65.553181	25	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3128717	3128717	4509	20	C	T	T	31	31	DDRGK1	T	1	1
C20orf114	92747	broad.mit.edu	36	20	31340313	31340313	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31340313G>A	uc002wyw.1	+	c.221G>A	c.(220-222)GGC>GAC	p.G74D	C20orf114_uc010gej.1_Missense_Mutation_p.G74D	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	74						extracellular space	lipid binding			central_nervous_system(2)	2														0.44186	104.534337	104.787955	38	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31340313	31340313	2158	20	G	A	A	42	42	C20orf114	A	2	2
SNTA1	6640	broad.mit.edu	36	20	31469219	31469219	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31469219G>A	uc002wzd.1	-	c.668C>T	c.(667-669)TCG>TTG	p.S223L		NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	223	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding				0														0.236842	79.52771	89.147617	36	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31469219	31469219	15371	20	G	A	A	37	37	SNTA1	A	1	1
SLC4A11	83959	broad.mit.edu	36	20	3158075	3158075	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3158075C>T	uc002wig.1	-	c.1814G>A	c.(1813-1815)CGA>CAA	p.R605Q	SLC4A11_uc002wih.1_Non-coding_Transcript	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	605	Membrane (bicarbonate transporter).|Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						NSCLC(190;922 2139 10266 10292 38692)								0.434783	163.172362	163.684666	60	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3158075	3158075	15149	20	C	T	T	31	31	SLC4A11	T	1	1
SLC4A11	83959	broad.mit.edu	36	20	3162883	3162883	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3162883G>A	uc002wig.1	-	c.417C>T	c.(415-417)ATC>ATT	p.I139I	SLC4A11_uc002wih.1_Non-coding_Transcript	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	139	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						NSCLC(190;922 2139 10266 10292 38692)								0.232365	117.965295	133.78941	56	185	GG		KEEP	---	---	---	---	capture			Silent	SNP	3162883	3162883	15149	20	G	A	A	37	37	SLC4A11	A	1	1
CBFA2T2	9139	broad.mit.edu	36	20	31679894	31679894	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31679894C>A	uc002wzg.1	+	c.1051C>A	c.(1051-1053)CTT>ATT	p.L351I	CBFA2T2_uc002wze.1_Missense_Mutation_p.L342I|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.L322I|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	351						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						Esophageal Squamous(174;142 1955 14837 21276 28041)								0.206642	109.734569	131.37058	56	215	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31679894	31679894	2816	20	C	A	A	32	32	CBFA2T2	A	3	3
TRIB3	57761	broad.mit.edu	36	20	316836	316836	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:316836C>T	uc002wdm.1	+	c.182C>T	c.(181-183)GCT>GTT	p.A61V		NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	61					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|protein phosphorylation|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)				Melanoma(101;421 2374 19538)				118				0.181818	65.604951	83.452379	34	153	CC		KEEP	---	---	---	---	capture		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	Missense_Mutation	SNP	316836	316836	17028	20	C	T	T	28	28	TRIB3	T	2	2
ZNF341	84905	broad.mit.edu	36	20	31796717	31796717	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31796717C>T	uc002wzy.1	+	c.290C>T	c.(289-291)TCG>TTG	p.S97L	ZNF341_uc002wzx.1_Missense_Mutation_p.S97L|ZNF341_uc010geq.1_Intron|ZNF341_uc010ger.1_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.456522	111.725828	111.878409	42	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31796717	31796717	18449	20	C	T	T	31	31	ZNF341	T	1	1
C20orf194	25943	broad.mit.edu	36	20	3188589	3188589	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3188589G>A	uc002wii.2	-	c.2959C>T	c.(2959-2961)CGC>TGC	p.R987C	C20orf194_uc002wik.2_Missense_Mutation_p.R661C|C20orf194_uc002wij.2_Missense_Mutation_p.R726C	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	987											0														0.169231	18.186537	24.919039	11	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3188589	3188589	2177	20	G	A	A	37	37	C20orf194	A	1	1
C20orf194	25943	broad.mit.edu	36	20	3199179	3199179	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3199179G>A	uc002wii.2	-	c.2680C>T	c.(2680-2682)CAC>TAC	p.H894Y	C20orf194_uc002wik.2_Missense_Mutation_p.H568Y|C20orf194_uc002wij.2_Missense_Mutation_p.H633Y	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	894											0														0.157895	31.678484	46.537706	21	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3199179	3199179	2177	20	G	A	A	45	45	C20orf194	A	2	2
EIF2S2	8894	broad.mit.edu	36	20	32141210	32141210	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:32141210G>A	uc002xaf.1	-	c.989C>T	c.(988-990)GCC>GTC	p.A330V	EIF2S2_uc002xag.1_Missense_Mutation_p.A327V|EIF2S2_uc010ges.1_Missense_Mutation_p.A270V	NM_003908	NP_003899	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2 beta	330						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			large_intestine(1)	1														0.223529	83.60315	95.523997	38	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32141210	32141210	5199	20	G	A	A	42	42	EIF2S2	A	2	2
AHCY	191	broad.mit.edu	36	20	32342209	32342209	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:32342209G>A	uc002xai.1	-	c.755C>T	c.(754-756)GCT>GTT	p.A252V	AHCY_uc002xaj.1_Missense_Mutation_p.A224V	NM_000687	NP_000678	P23526	SAHH_HUMAN	S-adenosylhomocysteine hydrolase	252					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0														0.223844	203.687849	232.503645	92	319	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32342209	32342209	412	20	G	A	A	34	34	AHCY	A	2	2
NCOA6	23054	broad.mit.edu	36	20	32792572	32792572	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:32792572C>T	uc002xav.1	-	c.5149G>A	c.(5149-5151)GCC>ACC	p.A1717T	NCOA6_uc002xaw.1_Missense_Mutation_p.A1717T	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1717	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.433498	224.334462	225.122626	88	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32792572	32792572	10632	20	C	T	T	25	25	NCOA6	T	2	2
NCOA6	23054	broad.mit.edu	36	20	32793884	32793884	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:32793884A>C	uc002xav.1	-	c.3837T>G	c.(3835-3837)ACT>ACG	p.T1279T	NCOA6_uc002xaw.1_Silent_p.T1279T	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1279	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.231405	132.679516	148.67182	56	186	AA		KEEP	---	---	---	---	capture			Silent	SNP	32793884	32793884	10632	20	A	C	C	3	3	NCOA6	C	4	4
NCOA6	23054	broad.mit.edu	36	20	32794020	32794020	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:32794020G>A	uc002xav.1	-	c.3701C>T	c.(3700-3702)CCT>CTT	p.P1234L	NCOA6_uc002xaw.1_Missense_Mutation_p.P1234L	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1234	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.451613	567.775454	568.599458	182	221	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32794020	32794020	10632	20	G	A	A	35	35	NCOA6	A	2	2
ACSS2	55902	broad.mit.edu	36	20	32934408	32934408	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:32934408G>A	uc010gey.1	+	c.329G>A	c.(328-330)CGA>CAA	p.R110Q	ACSS2_uc002xbb.1_Missense_Mutation_p.R60Q|ACSS2_uc002xbc.1_Missense_Mutation_p.R15Q|ACSS2_uc002xbd.1_Missense_Mutation_p.R110Q|ACSS2_uc002xbe.1_5'UTR|ACSS2_uc002xbf.1_Missense_Mutation_p.R110Q	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	110					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.175824	59.382867	77.422038	32	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32934408	32934408	190	20	G	A	A	37	37	ACSS2	A	1	1
MYH7B	57644	broad.mit.edu	36	20	33042202	33042202	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33042202G>T	uc002xbi.1	+	c.2104G>T	c.(2104-2106)GAG>TAG	p.E702*		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	660	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2														0.195122	43.049676	53.700236	24	99	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00691)		Nonsense_Mutation	SNP	33042202	33042202	10435	20	G	T	T	41	41	MYH7B	T	5	3
MYH7B	57644	broad.mit.edu	36	20	33050719	33050719	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33050719C>T	uc002xbi.1	+	c.4516C>T	c.(4516-4518)CGG>TGG	p.R1506W		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1464	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2														0.411765	18.825266	18.939738	7	10	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00691)		Missense_Mutation	SNP	33050719	33050719	10435	20	C	T	T	27	27	MYH7B	T	1	1
MYH7B	57644	broad.mit.edu	36	20	33052805	33052805	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33052805G>A	uc002xbi.1	+	c.5698G>A	c.(5698-5700)GCA>ACA	p.A1900T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1858	Potential.			A -> V (in Ref. 1; AAQ93060).		membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2														0.32	19.689642	20.410178	8	17	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00691)		Missense_Mutation	SNP	33052805	33052805	10435	20	G	A	A	38	38	MYH7B	A	1	1
EDEM2	55741	broad.mit.edu	36	20	33175402	33175402	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33175402G>A	uc002xbo.1	-	c.1066C>T	c.(1066-1068)CCT>TCT	p.P356S	EDEM2_uc002xbn.1_Missense_Mutation_p.P204S|EDEM2_uc002xbp.1_Missense_Mutation_p.P204S|EDEM2_uc002xbq.1_Missense_Mutation_p.P319S|EDEM2_uc002xbr.1_Non-coding_Transcript	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	356					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0						Esophageal Squamous(51;906 1021 24535 36410 39145)								0.473988	233.689868	233.794108	82	91	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00936)		Missense_Mutation	SNP	33175402	33175402	5099	20	G	A	A	41	41	EDEM2	A	2	2
PROCR	10544	broad.mit.edu	36	20	33223628	33223628	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33223628A>G	uc002xbt.1	+	c.10A>G	c.(10-12)ACA>GCA	p.T4A		NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	4					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0					Drotrecogin alfa(DB00055)									0.173333	65.192358	80.275404	26	124	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.0152)		Missense_Mutation	SNP	33223628	33223628	12990	20	A	G	G	2	2	PROCR	G	4	4
PROCR	10544	broad.mit.edu	36	20	33228189	33228189	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33228189C>T	uc002xbt.1	+	c.629C>T	c.(628-630)TCG>TTG	p.S210L		NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	210	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0					Drotrecogin alfa(DB00055)									0.391304	49.637844	50.114371	18	28	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.0152)		Missense_Mutation	SNP	33228189	33228189	12990	20	C	T	T	31	31	PROCR	T	1	1
MMP24	10893	broad.mit.edu	36	20	33325733	33325733	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33325733C>T	uc002xbu.1	+	c.1686C>T	c.(1684-1686)ATC>ATT	p.I562I		NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	615	Helical; (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0														0.503759	201.232888	201.234678	67	66	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00252)		Silent	SNP	33325733	33325733	10052	20	C	T	T	30	30	MMP24	T	2	2
FAM83C	128876	broad.mit.edu	36	20	33338015	33338015	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33338015G>A	uc002xca.1	-	c.1981C>T	c.(1981-1983)CGC>TGC	p.R661C	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.R316C	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	661										ovary(2)	2														0.487179	161.16297	161.179834	57	60	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00252)		Missense_Mutation	SNP	33338015	33338015	5861	20	G	A	A	37	37	FAM83C	A	1	1
FAM83C	128876	broad.mit.edu	36	20	33338296	33338296	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33338296G>A	uc002xca.1	-	c.1700C>T	c.(1699-1701)GCC>GTC	p.A567V	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.A222V	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	567										ovary(2)	2														0.52381	184.371803	184.436573	66	60	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00252)		Missense_Mutation	SNP	33338296	33338296	5861	20	G	A	A	42	42	FAM83C	A	2	2
UQCC	55245	broad.mit.edu	36	20	33357889	33357889	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33357889C>T	uc002xcd.1	-	c.759G>A	c.(757-759)AGG>AGA	p.R253R	UQCC_uc002xce.1_Silent_p.R226R|UQCC_uc002xcg.1_Silent_p.R119R|UQCC_uc010gfb.1_Silent_p.R227R|UQCC_uc002xcf.1_Silent_p.R141R|UQCC_uc002xcc.1_Silent_p.R66R|UQCC_uc002xch.2_5'Flank	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	253						cytoplasmic membrane-bounded vesicle				breast(1)	1												OREG0025889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.178161	55.909828	72.890333	31	143	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00252)		Silent	SNP	33357889	33357889	17576	20	C	T	T	30	30	UQCC	T	2	2
GDF5	8200	broad.mit.edu	36	20	33485858	33485858	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33485858C>A	uc010gfc.1	-	c.769G>T	c.(769-771)GGC>TGC	p.G257C	GDF5_uc002xck.1_Missense_Mutation_p.G257C	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	257				APGGG -> VPRSR (in Ref. 2; AAA57007).	cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)													0.230088	50.062498	57.645992	26	87	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00663)		Missense_Mutation	SNP	33485858	33485858	6584	20	C	A	A	24	24	GDF5	A	3	3
CEP250	11190	broad.mit.edu	36	20	33518275	33518275	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33518275G>A	uc002xcm.1	+	c.563G>A	c.(562-564)CGA>CAA	p.R188Q	CEP250_uc002xcn.1_Missense_Mutation_p.R188Q|CEP250_uc010gfe.1_Non-coding_Transcript|CEP250_uc002xco.2_5'UTR	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2 isoform 1	188					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)													0.195266	61.080327	75.72074	33	136	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.0106)		Missense_Mutation	SNP	33518275	33518275	3385	20	G	A	A	37	37	CEP250	A	1	1
CEP250	11190	broad.mit.edu	36	20	33521136	33521136	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33521136G>A	uc002xcm.1	+	c.859G>A	c.(859-861)GAG>AAG	p.E287K	CEP250_uc002xcn.1_Missense_Mutation_p.E287K|CEP250_uc002xco.2_Missense_Mutation_p.E94K	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2 isoform 1	287	Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)													0.223077	61.508525	70.677041	29	101	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.0106)		Missense_Mutation	SNP	33521136	33521136	3385	20	G	A	A	37	37	CEP250	A	1	1
CEP250	11190	broad.mit.edu	36	20	33555498	33555498	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33555498G>A	uc002xcm.1	+	c.5887G>A	c.(5887-5889)GCT>ACT	p.A1963T	CEP250_uc002xcn.1_Missense_Mutation_p.A1907T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2 isoform 1	1963	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)													0.318182	17.226536	17.868078	7	15	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.0106)		Missense_Mutation	SNP	33555498	33555498	3385	20	G	A	A	42	42	CEP250	A	2	2
CPNE1	8904	broad.mit.edu	36	20	33705027	33705027	+	De_novo_Start_OutOfFrame	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33705027G>T	uc002xdd.1	-	c.-163C>A	c.(-165--161)GTCTG>GTATG		CPNE1_uc002xde.1_Intron|CPNE1_uc002xdf.1_Intron|CPNE1_uc002xdg.1_Intron|CPNE1_uc010gfi.1_Intron|CPNE1_uc010gfj.1_Intron|CPNE1_uc002xdh.1_Intron|CPNE1_uc002xdi.1_Intron|CPNE1_uc002xdj.1_Intron|CPNE1_uc002xdk.1_Intron|CPNE1_uc002xdl.1_Intron|CPNE1_uc002xdm.1_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.1_Silent_p.V544V|RBM12_uc002xdr.1_Silent_p.V544V|RBM12_uc002xds.1_Silent_p.V544V|RBM12_uc010gfl.1_Silent_p.V544V	NM_003915	NP_690908			copine I isoform b						lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)													0.204	292.702662	353.753647	153	597	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00953)		De_novo_Start_OutOfFrame	SNP	33705027	33705027	3949	20	G	T	T	33	33	CPNE1	T	5	3
RBM12	10137	broad.mit.edu	36	20	33706098	33706098	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33706098C>T	uc002xdq.1	-	c.561G>A	c.(559-561)CCG>CCA	p.P187P	CPNE1_uc002xdd.1_5'Flank|CPNE1_uc002xde.1_Intron|CPNE1_uc002xdf.1_Intron|CPNE1_uc002xdg.1_Intron|CPNE1_uc010gfi.1_Intron|CPNE1_uc010gfj.1_Intron|CPNE1_uc002xdh.1_Intron|CPNE1_uc002xdi.1_Intron|CPNE1_uc002xdj.1_Intron|CPNE1_uc002xdk.1_Intron|CPNE1_uc002xdl.1_Intron|CPNE1_uc002xdm.1_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.1_Silent_p.P187P|RBM12_uc002xds.1_Silent_p.P187P|RBM12_uc010gfl.1_Silent_p.P187P	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	187	Poly-Pro.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)													0.185841	34.675427	45.083705	21	92	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00953)		Silent	SNP	33706098	33706098	13574	20	C	T	T	27	27	RBM12	T	1	1
RBM12	10137	broad.mit.edu	36	20	33706524	33706524	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33706524G>A	uc002xdq.1	-	c.135C>T	c.(133-135)ATC>ATT	p.I45I	CPNE1_uc002xdd.1_5'Flank|CPNE1_uc002xde.1_Intron|CPNE1_uc002xdf.1_Intron|CPNE1_uc002xdg.1_Intron|CPNE1_uc010gfi.1_Intron|CPNE1_uc010gfj.1_Intron|CPNE1_uc002xdh.1_Intron|CPNE1_uc002xdi.1_Intron|CPNE1_uc002xdj.1_Intron|CPNE1_uc002xdk.1_Intron|CPNE1_uc002xdl.1_Intron|CPNE1_uc002xdm.1_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.1_Silent_p.I45I|RBM12_uc002xds.1_Silent_p.I45I|RBM12_uc010gfl.1_Silent_p.I45I	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	45						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.393939	106.900114	107.875876	39	60	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00953)		Silent	SNP	33706524	33706524	13574	20	G	A	A	37	37	RBM12	A	1	1
RBM39	9584	broad.mit.edu	36	20	33768083	33768083	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33768083A>C	uc002xeb.1	-	c.884T>G	c.(883-885)TTT>TGT	p.F295C	RBM39_uc002xdz.1_Missense_Mutation_p.F271C|RBM39_uc002xea.1_Missense_Mutation_p.F138C|RBM39_uc010gfn.1_Missense_Mutation_p.F138C|RBM39_uc002xeg.1_Missense_Mutation_p.F273C|RBM39_uc002xec.1_Missense_Mutation_p.F295C|RBM39_uc002xed.1_Missense_Mutation_p.F13C|RBM39_uc002xee.1_Missense_Mutation_p.F138C|RBM39_uc002xef.1_Missense_Mutation_p.F138C	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	295	RRM 2.|Activating domain (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)													0.470588	77.593362	77.631914	24	27	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33768083	33768083	13595	20	A	C	C	1	1	RBM39	C	4	4
RBM39	9584	broad.mit.edu	36	20	33783313	33783313	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33783313C>T	uc002xeb.1	-	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	RBM39_uc002xdz.1_Missense_Mutation_p.R63Q|RBM39_uc002xea.1_5'UTR|RBM39_uc010gfn.1_5'UTR|RBM39_uc002xeg.1_Missense_Mutation_p.R87Q|RBM39_uc002xec.1_Missense_Mutation_p.R87Q|RBM39_uc002xed.1_5'UTR|RBM39_uc002xee.1_5'UTR|RBM39_uc002xef.1_5'UTR	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	87	Arg/Ser-rich (RS domain).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)													0.199095	172.846276	210.097115	88	354	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33783313	33783313	13595	20	C	T	T	31	31	RBM39	T	1	1
PHF20	51230	broad.mit.edu	36	20	33914603	33914603	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33914603C>T	uc002xek.1	+	c.675C>T	c.(673-675)TCC>TCT	p.S225S	PHF20_uc002xei.1_Silent_p.S225S|PHF20_uc010gfo.1_Silent_p.S225S|PHF20_uc002xej.1_Silent_p.S109S|PHF20_uc002xel.1_Silent_p.S87S	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)													0.466165	379.891314	380.153631	124	142	CC		KEEP	---	---	---	---	capture			Silent	SNP	33914603	33914603	12254	20	C	T	T	23	23	PHF20	T	1	1
PHF20	51230	broad.mit.edu	36	20	33998910	33998910	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33998910C>T	uc002xek.1	+	c.2986C>T	c.(2986-2988)CTG>TTG	p.L996L		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	996					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)													0.5	202.288691	202.288691	68	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	33998910	33998910	12254	20	C	T	T	28	28	PHF20	T	2	2
C20orf152	140894	broad.mit.edu	36	20	34036004	34036004	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34036004C>T	uc002xer.1	+	c.606C>T	c.(604-606)ATC>ATT	p.I202I	C20orf152_uc002xes.1_Silent_p.I202I|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	hypothetical protein LOC140894	202	cNMP.										0	Breast(12;0.00631)													0.201031	78.606406	94.734653	39	155	CC		KEEP	---	---	---	---	capture			Silent	SNP	34036004	34036004	2169	20	C	T	T	31	31	C20orf152	T	1	1
EPB41L1	2036	broad.mit.edu	36	20	34225123	34225123	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34225123G>A	uc002xfb.1	+	c.10G>A	c.(10-12)GAG>AAG	p.E4K	EPB41L1_uc002xeu.1_Intron|EPB41L1_uc002xev.1_Missense_Mutation_p.E4K|EPB41L1_uc002xew.1_Intron|EPB41L1_uc002xex.1_Intron|EPB41L1_uc002xey.1_Missense_Mutation_p.E4K|EPB41L1_uc002xez.1_Intron	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	4					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)													0.196581	47.253779	57.295198	23	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34225123	34225123	5345	20	G	A	A	33	33	EPB41L1	A	2	2
EPB41L1	2036	broad.mit.edu	36	20	34242092	34242092	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34242092C>A	uc002xfb.1	+	c.1259C>A	c.(1258-1260)TCT>TAT	p.S420Y	EPB41L1_uc002xeu.1_Missense_Mutation_p.S358Y|EPB41L1_uc002xev.1_Missense_Mutation_p.S420Y|EPB41L1_uc002xew.1_Missense_Mutation_p.S323Y|EPB41L1_uc002xex.1_Missense_Mutation_p.S389Y|EPB41L1_uc002xey.1_Missense_Mutation_p.S347Y|EPB41L1_uc002xez.1_Missense_Mutation_p.S358Y	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	420					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)													0.376147	104.73682	106.208223	41	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34242092	34242092	5345	20	C	A	A	32	32	EPB41L1	A	3	3
C20orf4	25980	broad.mit.edu	36	20	34296214	34296214	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34296214C>A	uc002xfd.1	+	c.939C>A	c.(937-939)TTC>TTA	p.F313L	C20orf4_uc002xfc.1_Missense_Mutation_p.F313L|C20orf4_uc002xfe.1_Missense_Mutation_p.F313L	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	313											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)												0.235294	66.618708	75.345613	32	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34296214	34296214	2191	20	C	A	A	32	32	C20orf4	A	3	3
DLGAP4	22839	broad.mit.edu	36	20	34494079	34494079	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34494079C>T	uc002xff.1	+	c.545C>T	c.(544-546)GCC>GTC	p.A182V		NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	182					cell-cell signaling	membrane	protein binding			ovary(1)|skin(1)	2	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)												0.207317	32.981479	39.455788	17	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34494079	34494079	4742	20	C	T	T	26	26	DLGAP4	T	2	2
NDRG3	57446	broad.mit.edu	36	20	34726882	34726882	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34726882G>A	uc002xfw.1	-	c.791C>T	c.(790-792)TCG>TTG	p.S264L	NDRG3_uc002xfx.1_Missense_Mutation_p.S252L	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream-regulated gene 3 isoform a	264					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)												0.210773	185.692352	218.773674	90	337	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34726882	34726882	10652	20	G	A	A	37	37	NDRG3	A	1	1
SAMHD1	25939	broad.mit.edu	36	20	34959651	34959651	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34959651G>T	uc002xgh.1	-	c.1734C>A	c.(1732-1734)TTC>TTA	p.F578L	SAMHD1_uc010gft.1_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	578					defense response to virus|innate immune response|regulation of innate immune response	nucleus	hydrolase activity				0		Myeloproliferative disorder(115;0.00878)												0.242424	83.411935	93.405253	40	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34959651	34959651	14308	20	G	T	T	45	45	SAMHD1	T	3	3
ATRN	8455	broad.mit.edu	36	20	3507393	3507393	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3507393C>T	uc002wim.1	+	c.2518C>T	c.(2518-2520)CGA>TGA	p.R840*	ATRN_uc002wil.1_Nonsense_Mutation_p.R840*	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	840	Extracellular (Potential).|C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2														0.47482	188.934913	189.011791	66	73	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	3507393	3507393	1225	20	C	T	T	27	27	ATRN	T	5	1
RBL1	5933	broad.mit.edu	36	20	35080152	35080152	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:35080152C>A	uc002xgi.1	-	c.2666G>T	c.(2665-2667)AGA>ATA	p.R889I	RBL1_uc002xgj.1_Missense_Mutation_p.R889I	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	889	Domain B.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|ovary(2)	7		Myeloproliferative disorder(115;0.00878)								419				0.139535	21.95248	38.159303	18	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35080152	35080152	13570	20	C	A	A	32	32	RBL1	A	3	3
RBL1	5933	broad.mit.edu	36	20	35124053	35124053	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:35124053G>T	uc002xgi.1	-	c.931C>A	c.(931-933)CTA>ATA	p.L311I	RBL1_uc002xgj.1_Missense_Mutation_p.L311I|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	311					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|ovary(2)	7		Myeloproliferative disorder(115;0.00878)								419				0.164557	39.635759	56.534119	26	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35124053	35124053	13570	20	G	T	T	33	33	RBL1	T	3	3
ATRN	8455	broad.mit.edu	36	20	3523178	3523178	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3523178C>A	uc002wim.1	+	c.3375C>A	c.(3373-3375)TGC>TGA	p.C1125*	ATRN_uc002wil.1_Nonsense_Mutation_p.C1125*	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	1125	Extracellular (Potential).|Laminin EGF-like 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2														0.490323	223.283473	223.296386	76	79	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	3523178	3523178	1225	20	C	A	A	28	28	ATRN	A	5	3
SRC	6714	broad.mit.edu	36	20	35462034	35462034	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:35462034G>A	uc002xgx.1	+	c.962G>A	c.(961-963)AGG>AAG	p.R321K	SRC_uc002xgy.1_Missense_Mutation_p.R321K	NM_005417	NP_938033	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	321	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)					463				0.411111	114.457432	115.078972	37	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35462034	35462034	15648	20	G	A	A	35	35	SRC	A	2	2
TGM2	7052	broad.mit.edu	36	20	36200168	36200168	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36200168G>A	uc002xhr.1	-	c.1376C>T	c.(1375-1377)GCG>GTG	p.A459V	TGM2_uc002xhs.1_Missense_Mutation_p.A435V|TGM2_uc002xht.1_Missense_Mutation_p.A459V	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	459					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)									0.258883	110.765044	121.124872	51	146	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36200168	36200168	16358	20	G	A	A	38	38	TGM2	A	1	1
TGM2	7052	broad.mit.edu	36	20	36203892	36203892	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36203892C>A	uc002xhr.1	-	c.983G>T	c.(982-984)AGC>ATC	p.S328I	TGM2_uc002xhs.1_Missense_Mutation_p.S304I|TGM2_uc002xht.1_Missense_Mutation_p.S328I	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	328					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)									0.157303	45.475985	65.435208	28	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36203892	36203892	16358	20	C	A	A	28	28	TGM2	A	3	3
TGM2	7052	broad.mit.edu	36	20	36208643	36208643	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36208643C>A	uc002xhr.1	-	c.749G>T	c.(748-750)AGC>ATC	p.S250I	TGM2_uc002xhs.1_Missense_Mutation_p.S226I|TGM2_uc002xht.1_Missense_Mutation_p.S250I|TGM2_uc002xhu.2_Missense_Mutation_p.S250I	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	250					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)									0.333333	85.876888	88.466517	35	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36208643	36208643	16358	20	C	A	A	28	28	TGM2	A	3	3
KIAA1755	85449	broad.mit.edu	36	20	36275105	36275105	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36275105C>T	uc002xhy.1	-	c.3356G>A	c.(3355-3357)AGA>AAA	p.R1119K	KIAA1755_uc002xhv.1_Missense_Mutation_p.R183K|KIAA1755_uc002xhw.1_Missense_Mutation_p.R174K|KIAA1755_uc002xhx.1_Missense_Mutation_p.R397K	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1119										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.2125	38.828298	44.942302	17	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36275105	36275105	8568	20	C	T	T	32	32	KIAA1755	T	2	2
KIAA1755	85449	broad.mit.edu	36	20	36275165	36275165	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36275165C>T	uc002xhy.1	-	c.3296G>A	c.(3295-3297)GGC>GAC	p.G1099D	KIAA1755_uc002xhv.1_Missense_Mutation_p.G163D|KIAA1755_uc002xhw.1_Missense_Mutation_p.G154D|KIAA1755_uc002xhx.1_Missense_Mutation_p.G377D	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1099										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.240741	29.447387	32.76024	13	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36275165	36275165	8568	20	C	T	T	26	26	KIAA1755	T	2	2
KIAA1755	85449	broad.mit.edu	36	20	36303517	36303517	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36303517G>A	uc002xhy.1	-	c.430C>T	c.(430-432)CTT>TTT	p.L144F	KIAA1755_uc002xhz.1_Missense_Mutation_p.L144F	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	144										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.43554	355.395918	356.441121	125	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36303517	36303517	8568	20	G	A	A	36	36	KIAA1755	A	2	2
RALGAPB	57148	broad.mit.edu	36	20	36555172	36555172	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36555172G>T	uc002xiw.1	+	c.372G>T	c.(370-372)CAG>CAT	p.Q124H	RALGAPB_uc002xix.1_Missense_Mutation_p.Q124H|RALGAPB_uc002xiy.1_Missense_Mutation_p.Q124H|RALGAPB_uc002xiz.1_5'UTR	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	hypothetical protein LOC57148	124					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)	1														0.210526	67.987157	81.264401	36	135	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36555172	36555172	13475	20	G	T	T	33	33	RALGAPB	T	3	3
SLC32A1	140679	broad.mit.edu	36	20	36789605	36789605	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36789605G>A	uc002xjc.1	+	c.487G>A	c.(487-489)GGC>AGC	p.G163S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	163	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)									0.4	192.568076	193.967228	64	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36789605	36789605	15062	20	G	A	A	39	39	SLC32A1	A	1	1
ACTR5	79913	broad.mit.edu	36	20	36812106	36812106	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36812106T>C	uc002xjd.2	+	c.415T>C	c.(415-417)TGC>CGC	p.C139R		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent		ATP binding				0		Myeloproliferative disorder(115;0.00878)												0.226804	112.107386	125.394563	44	150	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36812106	36812106	216	20	T	C	C	59	59	ACTR5	C	4	4
ACTR5	79913	broad.mit.edu	36	20	36828344	36828344	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36828344G>T	uc002xjd.2	+	c.1343G>T	c.(1342-1344)AGA>ATA	p.R448I		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent		ATP binding				0		Myeloproliferative disorder(115;0.00878)												0.671937	498.387643	505.006942	170	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36828344	36828344	216	20	G	T	T	33	33	ACTR5	T	3	3
C20orf27	54976	broad.mit.edu	36	20	3684114	3684114	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3684114A>G	uc002wjh.1	-	c.376_splice	c.e4+1	p.G126_splice	C20orf27_uc002wjf.1_Silent_p.G126G|C20orf27_uc002wji.1_Splice_Site_SNP_p.G101_splice	NM_001039140	NP_001034229			hypothetical protein LOC54976												0														0.128713	18.120144	31.669915	13	88	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	3684114	3684114	2187	20	A	G	G	6	6	C20orf27	G	5	4
TBC1D20	128637	broad.mit.edu	36	20	370300	370300	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:370300C>A	uc002wds.1	-	c.558G>T	c.(556-558)AAG>AAT	p.K186N	TBC1D20_uc002wdv.1_Missense_Mutation_p.K9N|TBC1D20_uc002wdt.2_Non-coding_Transcript|TBC1D20_uc002wdu.2_Non-coding_Transcript	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	186	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)												0.459016	236.671599	236.939821	84	99	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	370300	370300	16131	20	C	A	A	28	28	TBC1D20	A	3	3
DHX35	60625	broad.mit.edu	36	20	37068266	37068266	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:37068266G>A	uc002xjh.1	+	c.1075G>A	c.(1075-1077)GAC>AAC	p.D359N		NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	359	Helicase C-terminal.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)												0.471523	1004.019528	1004.552218	356	399	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37068266	37068266	4687	20	G	A	A	37	37	DHX35	A	1	1
SPEF1	25876	broad.mit.edu	36	20	3706919	3706919	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3706919C>A	uc002wjj.1	-	c.651G>T	c.(649-651)AAG>AAT	p.K217N		NM_015417	NP_056232	Q9Y4P9	SPEF1_HUMAN	calponin-homology and microtubule-associated	217						cilium axoneme|cytoplasm					0														0.478261	57.636652	57.656078	22	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3706919	3706919	15546	20	C	A	A	32	32	SPEF1	A	3	3
DHX35	60625	broad.mit.edu	36	20	37087291	37087291	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:37087291A>C	uc002xjh.1	+	c.1676A>C	c.(1675-1677)AAT>ACT	p.N559T		NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	559					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)												0.460581	749.800821	750.451867	222	260	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37087291	37087291	4687	20	A	C	C	4	4	DHX35	C	4	4
CDC25B	994	broad.mit.edu	36	20	3732086	3732086	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3732086G>T	uc002wjn.1	+	c.1392G>T	c.(1390-1392)GAG>GAT	p.E464D	CDC25B_uc002wjl.1_Missense_Mutation_p.E352D|CDC25B_uc002wjm.1_Missense_Mutation_p.E352D|CDC25B_uc002wjo.1_Missense_Mutation_p.E450D|CDC25B_uc002wjp.1_Missense_Mutation_p.E423D|CDC25B_uc002wjq.1_Missense_Mutation_p.E264D|CDC25B_uc010gbc.1_Intron	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	464	Rhodanese.				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			ovary(2)	2														0.242775	87.760032	98.202686	42	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3732086	3732086	3191	20	G	T	T	33	33	CDC25B	T	3	3
C20orf29	55317	broad.mit.edu	36	20	3752765	3752765	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3752765C>T	uc002wjs.1	+	c.424C>T	c.(424-426)CTG>TTG	p.L142L	C20orf29_uc002wjt.2_Silent_p.L66L|C20orf29_uc002wju.1_Silent_p.L142L	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN	hypothetical protein LOC55317	142					double-strand break repair via homologous recombination		protein binding				0														0.402985	72.382571	72.940694	27	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	3752765	3752765	2188	20	C	T	T	28	28	C20orf29	T	2	2
C20orf29	55317	broad.mit.edu	36	20	3752901	3752901	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3752901T>C	uc002wjs.1	+	c.560T>C	c.(559-561)GTC>GCC	p.V187A	C20orf29_uc002wjt.2_Missense_Mutation_p.V111A|C20orf29_uc002wju.1_Missense_Mutation_p.V187A	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN	hypothetical protein LOC55317	187					double-strand break repair via homologous recombination		protein binding				0														0.190909	47.522624	57.339472	21	89	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3752901	3752901	2188	20	T	C	C	58	58	C20orf29	C	4	4
MAVS	57506	broad.mit.edu	36	20	3783312	3783312	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:3783312G>A	uc002wjw.2	+	c.41G>A	c.(40-42)CGC>CAC	p.R14H	MAVS_uc002wjx.2_5'UTR|MAVS_uc002wjy.2_5'UTR|MAVS_uc002wjv.2_Missense_Mutation_p.R14H	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	14	Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0														0.356164	133.85081	136.515138	52	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3783312	3783312	9722	20	G	A	A	38	38	MAVS	A	1	1
TOP1	7150	broad.mit.edu	36	20	39146546	39146546	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:39146546G>T	uc002xjl.1	+	c.538G>T	c.(538-540)GAT>TAT	p.D180Y	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	180	Lys-rich.				DNA topological change|DNA unwinding involved in replication|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)					252				0.277778	10.964952	11.766443	5	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39146546	39146546	16905	20	G	T	T	33	33	TOP1	T	3	3
PLCG1	5335	broad.mit.edu	36	20	39232200	39232200	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:39232200C>T	uc002xjo.1	+	c.2685C>T	c.(2683-2685)TTC>TTT	p.F895F	PLCG1_uc002xjp.1_Silent_p.F895F|PLCG1_uc010ggf.1_Silent_p.F219F	NM_002660	NP_002651	P19174	PLCG1_HUMAN	phospholipase C gamma 1 isoform a	895	PH 2; second part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(3)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.00878)								429				0.188755	89.583919	112.15627	47	202	CC		KEEP	---	---	---	---	capture			Silent	SNP	39232200	39232200	12461	20	C	T	T	31	31	PLCG1	T	1	1
PLCG1	5335	broad.mit.edu	36	20	39234312	39234312	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:39234312C>T	uc002xjo.1	+	c.2874C>T	c.(2872-2874)GTC>GTT	p.V958V	PLCG1_uc002xjp.1_Silent_p.V958V	NM_002660	NP_002651	P19174	PLCG1_HUMAN	phospholipase C gamma 1 isoform a	958	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(3)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.00878)								429				0.196721	127.498062	153.668724	60	245	CC		KEEP	---	---	---	---	capture			Silent	SNP	39234312	39234312	12461	20	C	T	T	32	32	PLCG1	T	2	2
ZHX3	23051	broad.mit.edu	36	20	39264489	39264489	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:39264489C>T	uc010ggg.1	-	c.2482G>A	c.(2482-2484)GAA>AAA	p.E828K	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.E828K|ZHX3_uc002xjs.1_Missense_Mutation_p.E828K|ZHX3_uc002xjt.1_Missense_Mutation_p.E828K|ZHX3_uc002xju.1_Missense_Mutation_p.E828K|ZHX3_uc002xjv.1_Missense_Mutation_p.E828K|ZHX3_uc002xjw.1_Missense_Mutation_p.E828K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	828					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		Myeloproliferative disorder(115;0.00425)												0.215625	140.185871	164.087384	69	251	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39264489	39264489	18268	20	C	T	T	31	31	ZHX3	T	1	1
ZHX3	23051	broad.mit.edu	36	20	39264848	39264848	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:39264848G>T	uc010ggg.1	-	c.2123C>A	c.(2122-2124)TCT>TAT	p.S708Y	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.S708Y|ZHX3_uc002xjs.1_Missense_Mutation_p.S708Y|ZHX3_uc002xjt.1_Missense_Mutation_p.S708Y|ZHX3_uc002xju.1_Missense_Mutation_p.S708Y|ZHX3_uc002xjv.1_Missense_Mutation_p.S708Y|ZHX3_uc002xjw.1_Missense_Mutation_p.S708Y	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	708					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		Myeloproliferative disorder(115;0.00425)												0.255556	99.852259	109.619852	46	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39264848	39264848	18268	20	G	T	T	33	33	ZHX3	T	3	3
EMILIN3	90187	broad.mit.edu	36	20	39425851	39425851	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:39425851G>A	uc002xjy.1	-	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	119	EMI.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)												0.215139	106.727046	125.525132	54	197	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39425851	39425851	5287	20	G	A	A	38	38	EMILIN3	A	1	1
CHD6	84181	broad.mit.edu	36	20	39485596	39485596	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:39485596A>G	uc002xka.1	-	c.4505T>C	c.(4504-4506)TTT>TCT	p.F1502S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1502					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.4209	1000.083706	1003.834299	290	399	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39485596	39485596	3463	20	A	G	G	1	1	CHD6	G	4	4
CHD6	84181	broad.mit.edu	36	20	39553867	39553867	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:39553867G>A	uc002xka.1	-	c.1321C>T	c.(1321-1323)CCT>TCT	p.P441S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	441					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.223629	113.367154	130.004096	53	184	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39553867	39553867	3463	20	G	A	A	42	42	CHD6	A	2	2
CHD6	84181	broad.mit.edu	36	20	39576946	39576946	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:39576946G>A	uc002xka.1	-	c.614C>T	c.(613-615)ACT>ATT	p.T205I	CHD6_uc002xkc.2_Missense_Mutation_p.T240I|CHD6_uc002xkd.1_Missense_Mutation_p.T183I	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	205					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.47479	331.041491	331.174168	113	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39576946	39576946	3463	20	G	A	A	36	36	CHD6	A	2	2
PTPRT	11122	broad.mit.edu	36	20	40143981	40143981	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:40143981G>A	uc010ggj.1	-	c.4284C>T	c.(4282-4284)ATC>ATT	p.I1428I	PTPRT_uc002xkg.1_Silent_p.I1409I|PTPRT_uc010ggi.1_Silent_p.I612I	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1409	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			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.386454	263.61425	266.450501	97	154	GG		KEEP	---	---	---	---	capture			Silent	SNP	40143981	40143981	13270	20	G	A	A	37	37	PTPRT	A	1	1
PTPRT	11122	broad.mit.edu	36	20	40164273	40164273	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:40164273G>A	uc010ggj.1	-	c.3676C>T	c.(3676-3678)CGA>TGA	p.R1226*	PTPRT_uc002xkg.1_Nonsense_Mutation_p.R1207*|PTPRT_uc010ggi.1_Nonsense_Mutation_p.R410*	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1207	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			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.43125	191.852497	192.510683	69	91	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	40164273	40164273	13270	20	G	A	A	37	37	PTPRT	A	5	1
PTPRT	11122	broad.mit.edu	36	20	40261325	40261325	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:40261325G>T	uc010ggj.1	-	c.2517C>A	c.(2515-2517)TTC>TTA	p.F839L	PTPRT_uc002xkg.1_Missense_Mutation_p.F820L|PTPRT_uc010ggi.1_Missense_Mutation_p.F23L	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	820	Cytoplasmic (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			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.190769	218.967178	277.134388	124	526	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40261325	40261325	13270	20	G	T	T	33	33	PTPRT	T	3	3
SMOX	54498	broad.mit.edu	36	20	4110772	4110772	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:4110772G>A	uc002wkp.2	+	c.646G>A	c.(646-648)GAG>AAG	p.E216K	SMOX_uc002wkk.1_Missense_Mutation_p.E216K|SMOX_uc002wkl.1_Missense_Mutation_p.E216K|SMOX_uc002wkm.1_Missense_Mutation_p.E216K|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.E216K	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	polyamine oxidase isoform 1	216					oxidation-reduction process|polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)									0.471429	185.735708	185.835061	66	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4110772	4110772	15303	20	G	A	A	37	37	SMOX	A	1	1
SGK2	10110	broad.mit.edu	36	20	41630053	41630053	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:41630053G>T	uc002xkv.1	+	c.408G>T	c.(406-408)GAG>GAT	p.E136D	SGK2_uc002xkq.1_Missense_Mutation_p.E76D|SGK2_uc002xkr.1_Missense_Mutation_p.E76D|SGK2_uc010ggm.1_Missense_Mutation_p.E76D|SGK2_uc002xks.1_Missense_Mutation_p.E76D|SGK2_uc002xkt.1_Non-coding_Transcript|SGK2_uc002xku.1_Missense_Mutation_p.E76D	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	136	Protein kinase.|Nuclear localization signal (By similarity).				intracellular protein kinase cascade|protein phosphorylation|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(2)|breast(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.00452)								234				0.210937	51.912656	61.861977	27	101	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.0031)		Missense_Mutation	SNP	41630053	41630053	14700	20	G	T	T	35	35	SGK2	T	3	3
SGK2	10110	broad.mit.edu	36	20	41631484	41631484	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:41631484C>T	uc002xkv.1	+	c.454C>T	c.(454-456)CGG>TGG	p.R152W	SGK2_uc002xkq.1_Missense_Mutation_p.R92W|SGK2_uc002xkr.1_Missense_Mutation_p.R92W|SGK2_uc010ggm.1_Missense_Mutation_p.R92W|SGK2_uc002xks.1_Missense_Mutation_p.R91W|SGK2_uc002xkt.1_Non-coding_Transcript|SGK2_uc002xku.1_Missense_Mutation_p.R92W	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	152	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	p.R152G(1)		lung(2)|breast(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.00452)								234				0.379747	154.152018	156.159221	60	98	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.0031)		Missense_Mutation	SNP	41631484	41631484	14700	20	C	T	T	27	27	SGK2	T	1	1
IFT52	51098	broad.mit.edu	36	20	41686097	41686097	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:41686097C>T	uc002xkw.1	+	c.921C>T	c.(919-921)ATC>ATT	p.I307I	IFT52_uc002xkx.1_Non-coding_Transcript|IFT52_uc002xky.1_Silent_p.I307I|IFT52_uc002xkz.1_Silent_p.I307I|IFT52_uc010ggn.1_Silent_p.I283I	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	307						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)												0.211538	230.768156	270.7819	110	410	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.0031)		Silent	SNP	41686097	41686097	7862	20	C	T	T	31	31	IFT52	T	1	1
GTSF1L	149699	broad.mit.edu	36	20	41788401	41788401	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:41788401G>A	uc002xld.1	-	c.348C>T	c.(346-348)GTC>GTT	p.V116V	GTSF1L_uc002xlc.1_Intron	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like isoform 1	116							metal ion binding				0		Myeloproliferative disorder(115;0.00452)												0.442708	237.22837	237.778917	85	107	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.0031)		Silent	SNP	41788401	41788401	7167	20	G	A	A	41	41	GTSF1L	A	2	2
CSNK2A1	1457	broad.mit.edu	36	20	420904	420904	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:420904G>T	uc002wdw.1	-	c.615C>A	c.(613-615)GAC>GAA	p.D205E	CSNK2A1_uc002wdx.1_Missense_Mutation_p.D205E|CSNK2A1_uc002wdy.1_Missense_Mutation_p.D69E	NM_177559	NP_808228	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	205	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)								280				0.123596	11.155807	23.498932	11	78	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		Missense_Mutation	SNP	420904	420904	4098	20	G	T	T	36	36	CSNK2A1	T	3	3
TOX2	84969	broad.mit.edu	36	20	42127823	42127823	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42127823C>A	uc010ggo.1	+	c.1018C>A	c.(1018-1020)CTC>ATC	p.L340I	TOX2_uc002xle.2_Missense_Mutation_p.L298I|TOX2_uc010ggp.1_Missense_Mutation_p.L298I|TOX2_uc002xlf.2_Missense_Mutation_p.L322I|TOX2_uc002xlg.1_Intron	NM_001098797	NP_001092267	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	322	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)												0.452785	512.408756	513.218111	187	226	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.00189)		Missense_Mutation	SNP	42127823	42127823	16920	20	C	A	A	28	28	TOX2	A	3	3
FITM2	128486	broad.mit.edu	36	20	42368718	42368718	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42368718G>A	uc002xlr.1	-	c.750C>T	c.(748-750)AGC>AGT	p.S250S		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat-inducing transcript 2	250	Cytoplasmic (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane					0														0.419689	228.827084	229.916664	81	112	GG		KEEP	---	---	---	---	capture			Silent	SNP	42368718	42368718	6137	20	G	A	A	34	34	FITM2	A	2	2
HNF4A	3172	broad.mit.edu	36	20	42468262	42468262	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42468262G>A	uc002xma.1	+	c.266G>A	c.(265-267)CGG>CAG	p.R89Q	HNF4A_uc002xlt.1_Missense_Mutation_p.R67Q|HNF4A_uc002xlu.1_Missense_Mutation_p.R67Q|HNF4A_uc002xlv.1_Missense_Mutation_p.R67Q|HNF4A_uc002xly.1_Missense_Mutation_p.R89Q|HNF4A_uc002xlz.1_Missense_Mutation_p.R89Q|HNF4A_uc010ggq.1_Missense_Mutation_p.R82Q	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	89	Nuclear receptor.				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|promoter binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)				Colon(79;2 1269 8820 14841 52347)								0.471074	176.766399	176.854255	57	64	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.00189)		Missense_Mutation	SNP	42468262	42468262	7545	20	G	A	A	39	39	HNF4A	A	1	1
HNF4A	3172	broad.mit.edu	36	20	42480501	42480501	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42480501C>A	uc002xma.1	+	c.671C>A	c.(670-672)GCT>GAT	p.A224D	HNF4A_uc002xlt.1_Missense_Mutation_p.A202D|HNF4A_uc002xlu.1_Missense_Mutation_p.A202D|HNF4A_uc002xlv.1_Missense_Mutation_p.A202D|HNF4A_uc002xly.1_Missense_Mutation_p.A224D|HNF4A_uc002xlz.1_Missense_Mutation_p.A224D|HNF4A_uc010ggq.1_Missense_Mutation_p.A217D	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	224					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|promoter binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)				Colon(79;2 1269 8820 14841 52347)								0.153659	88.858502	136.09074	63	347	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.00189)		Missense_Mutation	SNP	42480501	42480501	7545	20	C	A	A	28	28	HNF4A	A	3	3
TTPAL	79183	broad.mit.edu	36	20	42542237	42542237	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42542237C>T	uc002xmc.1	+	c.184C>T	c.(184-186)CGT>TGT	p.R62C	TTPAL_uc002xmd.1_Missense_Mutation_p.R62C|TTPAL_uc010ggr.1_5'UTR	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	62						intracellular	transporter activity			breast(1)	1														0.242424	36.471429	40.461887	16	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42542237	42542237	17292	20	C	T	T	31	31	TTPAL	T	1	1
SERINC3	10955	broad.mit.edu	36	20	42575989	42575989	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42575989C>T	uc002xme.1	-	c.146G>A	c.(145-147)AGC>AAC	p.S49N	SERINC3_uc002xmf.1_Missense_Mutation_p.S49N|SERINC3_uc010ggs.1_Missense_Mutation_p.S42N	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	49	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding				0		Myeloproliferative disorder(115;0.0122)												0.252475	118.139307	129.377128	51	151	CC		KEEP	---	---	---	---	capture	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		Missense_Mutation	SNP	42575989	42575989	14569	20	C	T	T	28	28	SERINC3	T	2	2
CSNK2A1	1457	broad.mit.edu	36	20	426424	426424	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:426424G>A	uc002wdw.1	-	c.367C>T	c.(367-369)CAA>TAA	p.Q123*	CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.Q123*|CSNK2A1_uc002wdy.1_5'UTR	NM_177559	NP_808228	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	123	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)								280				0.488889	234.770052	234.789587	88	92	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		Nonsense_Mutation	SNP	426424	426424	4098	20	G	A	A	46	46	CSNK2A1	A	5	2
CSNK2A1	1457	broad.mit.edu	36	20	427937	427937	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:427937C>T	uc002wdw.1	-	c.328G>A	c.(328-330)GCC>ACC	p.A110T	CSNK2A1_uc002wdx.1_Missense_Mutation_p.A110T|CSNK2A1_uc002wdy.1_5'UTR	NM_177559	NP_808228	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	110	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)								280				0.40625	141.674434	142.657302	52	76	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		Missense_Mutation	SNP	427937	427937	4098	20	C	T	T	27	27	CSNK2A1	T	1	1
KCNK15	60598	broad.mit.edu	36	20	42808185	42808185	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42808185G>A	uc002xmr.1	+	c.220G>A	c.(220-222)GCC>ACC	p.A74T		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	74						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)												0.352941	28.30194	28.944633	12	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42808185	42808185	8367	20	G	A	A	38	38	KCNK15	A	1	1
YWHAB	7529	broad.mit.edu	36	20	42963685	42963685	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42963685G>T	uc002xmt.1	+	c.97G>T	c.(97-99)GAA>TAA	p.E33*	YWHAB_uc002xmu.1_Nonsense_Mutation_p.E33*	NM_003404	NP_647539	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	33					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)	3		Myeloproliferative disorder(115;0.0122)												0.349112	140.243629	143.651822	59	110	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	42963685	42963685	18084	20	G	T	T	33	33	YWHAB	T	5	3
PABPC1L	80336	broad.mit.edu	36	20	42974802	42974802	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42974802G>A	uc010ggv.1	+	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	94							nucleotide binding|RNA binding			ovary(1)	1														0.178808	48.333995	62.997916	27	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42974802	42974802	11777	20	G	A	A	38	38	PABPC1L	A	1	1
PABPC1L	80336	broad.mit.edu	36	20	42981087	42981087	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42981087C>A	uc010ggv.1	+	c.630C>A	c.(628-630)CTC>CTA	p.L210L		NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	210	RRM 3.						nucleotide binding|RNA binding			ovary(1)	1														0.175097	72.898635	98.514902	45	212	CC		KEEP	---	---	---	---	capture			Silent	SNP	42981087	42981087	11777	20	C	A	A	32	32	PABPC1L	A	3	3
PABPC1L	80336	broad.mit.edu	36	20	42992524	42992524	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42992524G>T	uc010ggv.1	+	c.982G>T	c.(982-984)GAG>TAG	p.E328*	PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.2_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	328	RRM 4.						nucleotide binding|RNA binding			ovary(1)	1														0.191235	166.666003	211.443468	96	406	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	42992524	42992524	11777	20	G	T	T	33	33	PABPC1L	T	5	3
STK4	6789	broad.mit.edu	36	20	43043934	43043934	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43043934G>T	uc002xnb.1	+	c.296G>T	c.(295-297)TGG>TTG	p.W99L	STK4_uc010ggx.1_Missense_Mutation_p.W99L|STK4_uc010ggy.1_Missense_Mutation_p.W99L|STK4_uc010ggw.1_Missense_Mutation_p.W99L	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	99	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GBM(187;1039 2137 11798 21916 33213)				296				0.182927	55.449176	70.934439	30	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43043934	43043934	15826	20	G	T	T	47	47	STK4	T	3	3
KCNS1	3787	broad.mit.edu	36	20	43157230	43157230	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43157230C>T	uc002xnc.1	-	c.1276G>A	c.(1276-1278)GAT>AAT	p.D426N	KCNS1_uc002xnd.1_Missense_Mutation_p.D426N	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	426	Selectivity filter (By similarity).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)												0.496644	214.933483	214.93504	74	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43157230	43157230	8393	20	C	T	T	30	30	KCNS1	T	2	2
KCNS1	3787	broad.mit.edu	36	20	43160280	43160280	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43160280C>T	uc002xnc.1	-	c.547G>A	c.(547-549)GAG>AAG	p.E183K	KCNS1_uc002xnd.1_Missense_Mutation_p.E183K	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	183	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)												0.2	16.089849	19.429269	8	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43160280	43160280	8393	20	C	T	T	31	31	KCNS1	T	1	1
WFDC12	128488	broad.mit.edu	36	20	43186221	43186221	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43186221T>G	uc002xnf.1	-	c.179A>C	c.(178-180)AAG>ACG	p.K60T		NM_080869	NP_543145	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12 precursor	60	WAP.				defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)												0.162162	41.902593	57.969864	24	124	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43186221	43186221	17924	20	T	G	G	56	56	WFDC12	G	4	4
PI3	5266	broad.mit.edu	36	20	43237974	43237974	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43237974C>T	uc002xng.1	+	c.138C>T	c.(136-138)CCC>CCT	p.P46P		NM_002638	NP_002629	P19957	ELAF_HUMAN	elafin preproprotein	46	SVP-1 clotting 1.|2 X tandem repeats of SVP-1 like motif.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)												0.253788	160.900174	175.427956	67	197	CC		KEEP	---	---	---	---	capture			Silent	SNP	43237974	43237974	12294	20	C	T	T	23	23	PI3	T	1	1
SEMG1	6406	broad.mit.edu	36	20	43269671	43269671	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43269671C>T	uc002xni.1	+	c.319C>T	c.(319-321)CTC>TTC	p.L107F	SEMG1_uc002xnh.1_Missense_Mutation_p.L107F|SEMG1_uc002xnj.1_Missense_Mutation_p.L107F|SEMG2_uc010ggz.1_Intron	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I isoform a preproprotein	107					insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity				0		Myeloproliferative disorder(115;0.0122)												0.480874	265.478447	265.537254	88	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43269671	43269671	14530	20	C	T	T	28	28	SEMG1	T	2	2
SEMG2	6407	broad.mit.edu	36	20	43284298	43284298	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43284298A>G	uc010ggz.1	+	c.611A>G	c.(610-612)AAC>AGC	p.N204S	SEMG2_uc002xnk.1_Missense_Mutation_p.N204S|SEMG2_uc002xnl.1_Missense_Mutation_p.N204S	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	204	2-2.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity				0		Myeloproliferative disorder(115;0.0122)												0.223602	97.11836	108.42279	36	125	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43284298	43284298	14531	20	A	G	G	2	2	SEMG2	G	4	4
SEMG2	6407	broad.mit.edu	36	20	43284441	43284441	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43284441G>T	uc010ggz.1	+	c.754G>T	c.(754-756)GAC>TAC	p.D252Y	SEMG2_uc002xnk.1_Missense_Mutation_p.D252Y|SEMG2_uc002xnl.1_Missense_Mutation_p.D252Y	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	252	2-2.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity				0		Myeloproliferative disorder(115;0.0122)												0.178295	76.068813	101.236987	46	212	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43284441	43284441	14531	20	G	T	T	33	33	SEMG2	T	3	3
RBPJL	11317	broad.mit.edu	36	20	43376601	43376601	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43376601G>A	uc002xns.1	+	c.1002G>A	c.(1000-1002)GAG>GAA	p.E334E	RBPJL_uc002xnt.1_Silent_p.E334E	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	334					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.350365	131.955117	134.662995	48	89	GG		KEEP	---	---	---	---	capture			Silent	SNP	43376601	43376601	13631	20	G	A	A	33	33	RBPJL	A	2	2
RBPJL	11317	broad.mit.edu	36	20	43378948	43378948	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43378948G>A	uc002xns.1	+	c.1489G>A	c.(1489-1491)GCG>ACG	p.A497T	RBPJL_uc002xnt.1_3'UTR	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	497	IPT/TIG.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.472222	230.855428	230.975656	85	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43378948	43378948	13631	20	G	A	A	38	38	RBPJL	A	1	1
SYS1	90196	broad.mit.edu	36	20	43427722	43427722	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43427722T>A	uc002xnv.1	+	c.212T>A	c.(211-213)ATC>AAC	p.I71N	SYS1_uc010gha.1_Non-coding_Transcript|SYS1_uc002xnw.1_Missense_Mutation_p.I71N|SYS1-DBNDD2_uc002xnx.1_5'UTR	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein	71	Helical; (Potential).				protein transport	Golgi membrane|integral to membrane					0		Myeloproliferative disorder(115;0.0122)												0.449516	930.679041	932.281457	325	398	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43427722	43427722	15985	20	T	A	A	50	50	SYS1	A	4	4
PIGT	51604	broad.mit.edu	36	20	43478587	43478587	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43478587C>T	uc002xoh.1	+	c.204C>T	c.(202-204)CTC>CTT	p.L68L	PIGT_uc010ghb.1_Silent_p.L68L|PIGT_uc010ghc.1_Non-coding_Transcript|PIGT_uc010ghd.1_Intron|PIGT_uc010ghe.1_Silent_p.L68L|PIGT_uc010ghf.1_Silent_p.L68L|PIGT_uc002xoi.1_Non-coding_Transcript|PIGT_uc002xoj.1_Silent_p.L68L|PIGT_uc002xok.1_Silent_p.L68L|PIGT_uc002xol.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	68	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)												0.265306	63.314096	68.187445	26	72	CC		KEEP	---	---	---	---	capture			Silent	SNP	43478587	43478587	12323	20	C	T	T	32	32	PIGT	T	2	2
SPINT4	391253	broad.mit.edu	36	20	43784462	43784462	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43784462C>A	uc002xpe.1	+	c.42C>A	c.(40-42)ATC>ATA	p.I14I		NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	14						extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2		Myeloproliferative disorder(115;0.028)												0.169643	61.791187	84.95052	38	186	CC		KEEP	---	---	---	---	capture			Silent	SNP	43784462	43784462	15583	20	C	A	A	32	32	SPINT4	A	3	3
WFDC3	140686	broad.mit.edu	36	20	43849943	43849943	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43849943C>A	uc002xpf.1	-	c.297G>T	c.(295-297)AAG>AAT	p.K99N	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Non-coding_Transcript	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3 precursor	99	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)												0.52027	213.553218	213.604878	77	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43849943	43849943	17927	20	C	A	A	32	32	WFDC3	A	3	3
WFDC3	140686	broad.mit.edu	36	20	43851100	43851100	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43851100C>A	uc002xpf.1	-	c.88G>T	c.(88-90)GAG>TAG	p.E30*	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron|DNTTIP1_uc002xpk.1_5'Flank	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3 precursor	30	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)												0.270769	194.824812	210.253073	88	237	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	43851100	43851100	17927	20	C	A	A	32	32	WFDC3	A	5	3
ACOT8	10005	broad.mit.edu	36	20	43910656	43910656	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43910656G>A	uc002xqa.1	-	c.328C>T	c.(328-330)CGC>TGC	p.R110C	ACOT8_uc002xqb.1_Missense_Mutation_p.R110C|ACOT8_uc002xqc.1_Missense_Mutation_p.R57C	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	110					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding				0		Myeloproliferative disorder(115;0.0122)												0.245192	105.86723	118.144607	51	157	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43910656	43910656	157	20	G	A	A	38	38	ACOT8	A	1	1
ZSWIM1	90204	broad.mit.edu	36	20	43945037	43945037	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43945037G>T	uc002xqe.1	+	c.399G>T	c.(397-399)AAG>AAT	p.K133N	ZSWIM1_uc010ghi.1_Missense_Mutation_p.K133N	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	133							zinc ion binding				0		Myeloproliferative disorder(115;0.028)												0.229268	94.497965	108.297545	47	158	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43945037	43945037	18844	20	G	T	T	33	33	ZSWIM1	T	3	3
C20orf165	128497	broad.mit.edu	36	20	43949007	43949007	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43949007C>T	uc002xqf.1	-	c.240G>A	c.(238-240)GAG>GAA	p.E80E		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	chromosome 20 open reading frame 165	80						integral to membrane					0		Myeloproliferative disorder(115;0.0122)												0.234332	197.163007	220.869432	86	281	CC		KEEP	---	---	---	---	capture			Silent	SNP	43949007	43949007	2171	20	C	T	T	32	32	C20orf165	T	2	2
NEURL2	140825	broad.mit.edu	36	20	43950825	43950825	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43950825C>A	uc002xqg.1	-	c.837G>T	c.(835-837)AAG>AAT	p.K279N	C20orf165_uc002xqf.1_5'Flank|CTSA_uc002xqh.1_5'Flank|CTSA_uc002xqj.2_5'Flank|CTSA_uc002xqi.1_5'Flank|CTSA_uc002xqk.2_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	279	SOCS box.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)												0.365385	99.51345	101.174275	38	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43950825	43950825	10746	20	C	A	A	24	24	NEURL2	A	3	3
CTSA	5476	broad.mit.edu	36	20	43959034	43959034	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43959034G>A	uc002xqh.1	+	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	CTSA_uc002xqj.2_Missense_Mutation_p.R371H|CTSA_uc002xqi.1_Non-coding_Transcript|CTSA_uc002xqk.2_Missense_Mutation_p.R371H	NM_000308	NP_001121167	P10619	PPGB_HUMAN	cathepsin A isoform a precursor	371					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.188356	98.264439	124.813733	55	237	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43959034	43959034	4188	20	G	A	A	38	38	CTSA	A	1	1
PLTP	5360	broad.mit.edu	36	20	43964316	43964316	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43964316C>T	uc002xqm.1	-	c.1232G>A	c.(1231-1233)CGC>CAC	p.R411H	PLTP_uc002xql.1_Missense_Mutation_p.R303H|PLTP_uc002xqn.1_Missense_Mutation_p.R391H|PLTP_uc002xqo.1_Missense_Mutation_p.R339H|PLTP_uc002xqp.1_Missense_Mutation_p.R391H|PLTP_uc002xqq.1_Missense_Mutation_p.R360H|PLTP_uc010ghj.1_Missense_Mutation_p.R391H	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	391					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.207317	33.530447	40.040223	17	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43964316	43964316	12540	20	C	T	T	27	27	PLTP	T	1	1
PCIF1	63935	broad.mit.edu	36	20	44009719	44009719	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44009719C>A	uc002xqs.1	+	c.2033C>A	c.(2032-2034)TCT>TAT	p.S678Y	PCIF1_uc002xqt.2_3'UTR|PCIF1_uc002xqu.1_Missense_Mutation_p.S147Y	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	678	Poly-Ser.|Nuclear localization signal (Potential).					nucleus					0														0.448	144.249784	144.547697	56	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44009719	44009719	12000	20	C	A	A	32	32	PCIF1	A	3	3
ZNF335	63925	broad.mit.edu	36	20	44011855	44011855	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44011855G>A	uc002xqw.1	-	c.3660C>T	c.(3658-3660)TCC>TCT	p.S1220S	ZNF335_uc002xqv.1_Silent_p.S332S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1220	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.181102	42.779869	54.896739	23	104	GG		KEEP	---	---	---	---	capture			Silent	SNP	44011855	44011855	18444	20	G	A	A	39	39	ZNF335	A	1	1
ZNF335	63925	broad.mit.edu	36	20	44029958	44029958	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44029958C>T	uc002xqw.1	-	c.636G>A	c.(634-636)GGG>GGA	p.G212G	ZNF335_uc002xqx.1_Silent_p.G180G|ZNF335_uc002xqy.2_Silent_p.G57G	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.222222	67.019903	78.538507	36	126	CC		KEEP	---	---	---	---	capture			Silent	SNP	44029958	44029958	18444	20	C	T	T	26	26	ZNF335	T	2	2
ZNF335	63925	broad.mit.edu	36	20	44031715	44031715	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44031715G>A	uc002xqw.1	-	c.224C>T	c.(223-225)TCG>TTG	p.S75L	ZNF335_uc002xqx.1_Missense_Mutation_p.S43L|ZNF335_uc002xqy.2_5'Flank	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)										OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.456897	297.338442	297.710611	106	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44031715	44031715	18444	20	G	A	A	37	37	ZNF335	A	1	1
MMP9	4318	broad.mit.edu	36	20	44075802	44075802	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44075802C>T	uc002xqz.1	+	c.1710C>T	c.(1708-1710)GTC>GTT	p.V570V		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	570	Hemopexin-like 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)					462		OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.195652	17.885463	21.83103	9	37	CC		KEEP	---	---	---	---	capture			Silent	SNP	44075802	44075802	10060	20	C	T	T	32	32	MMP9	T	2	2
SLC12A5	57468	broad.mit.edu	36	20	44118284	44118284	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44118284C>T	uc002xrb.1	+	c.2876C>T	c.(2875-2877)ACG>ATG	p.T959M		NM_020708	NP_065759	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	982	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.418182	118.497698	119.14677	46	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44118284	44118284	14881	20	C	T	T	19	19	SLC12A5	T	1	1
SLC12A5	57468	broad.mit.edu	36	20	44118426	44118426	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44118426G>A	uc002xrb.1	+	c.2926G>A	c.(2926-2928)GAT>AAT	p.D976N		NM_020708	NP_065759	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	999	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.411765	75.883474	76.346553	28	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44118426	44118426	14881	20	G	A	A	37	37	SLC12A5	A	1	1
NCOA5	57727	broad.mit.edu	36	20	44124629	44124629	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44124629C>A	uc002xrd.1	-	c.1457G>T	c.(1456-1458)AGC>ATC	p.S486I	NCOA5_uc002xrc.1_3'UTR|NCOA5_uc002xre.1_Missense_Mutation_p.S486I	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	486	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)												0.156584	70.505707	102.153535	44	237	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44124629	44124629	10631	20	C	A	A	28	28	NCOA5	A	3	3
NCOA5	57727	broad.mit.edu	36	20	44132554	44132554	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44132554C>A	uc002xrd.1	-	c.67G>T	c.(67-69)GAT>TAT	p.D23Y	NCOA5_uc002xrc.1_5'UTR|NCOA5_uc002xre.1_Missense_Mutation_p.D23Y	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	23	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)												0.397554	333.652884	336.662089	130	197	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44132554	44132554	10631	20	C	A	A	32	32	NCOA5	A	3	3
CDH22	64405	broad.mit.edu	36	20	44275142	44275142	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44275142C>A	uc002xrm.2	-	c.931G>T	c.(931-933)GAC>TAC	p.D311Y	CDH22_uc010ghk.1_Missense_Mutation_p.D311Y|CDH22_uc002xrn.1_Missense_Mutation_p.D62Y	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	311	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4		Myeloproliferative disorder(115;0.0122)												0.553571	168.436231	168.713575	62	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44275142	44275142	3236	20	C	A	A	32	32	CDH22	A	3	3
SLC35C2	51006	broad.mit.edu	36	20	44414250	44414250	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44414250C>A	uc002xro.1	-	c.684G>T	c.(682-684)GAG>GAT	p.E228D	SLC35C2_uc002xrp.1_Missense_Mutation_p.E207D|SLC35C2_uc002xrq.1_Missense_Mutation_p.E228D|SLC35C2_uc002xrr.1_Missense_Mutation_p.E228D	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	228					transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.394068	242.497398	244.823324	93	143	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44414250	44414250	15077	20	C	A	A	32	32	SLC35C2	A	3	3
ELMO2	63916	broad.mit.edu	36	20	44448284	44448284	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44448284G>A	uc002xrt.1	-	c.563C>T	c.(562-564)TCA>TTA	p.S188L	ELMO2_uc002xru.1_Missense_Mutation_p.S188L|ELMO2_uc002xrw.2_Missense_Mutation_p.S5L|ELMO2_uc002xrx.1_Missense_Mutation_p.S188L	NM_133171	NP_877496	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	188					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.38189	250.7459	253.875125	97	157	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44448284	44448284	5258	20	G	A	A	45	45	ELMO2	A	2	2
ZNF334	55713	broad.mit.edu	36	20	44563562	44563562	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44563562G>A	uc002xsc.1	-	c.1823C>T	c.(1822-1824)TCC>TTC	p.S608F	ZNF334_uc002xsa.1_Missense_Mutation_p.S631F|ZNF334_uc002xsb.1_Missense_Mutation_p.S570F|ZNF334_uc002xsd.1_Missense_Mutation_p.S570F|ZNF334_uc010ghl.1_Missense_Mutation_p.S607F	NM_018102	NP_955473	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	608	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)												0.188854	116.183533	145.376886	61	262	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44563562	44563562	18443	20	G	A	A	41	41	ZNF334	A	2	2
ZNF334	55713	broad.mit.edu	36	20	44564053	44564053	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44564053C>T	uc002xsc.1	-	c.1332G>A	c.(1330-1332)ACG>ACA	p.T444T	ZNF334_uc002xsa.1_Silent_p.T467T|ZNF334_uc002xsb.1_Silent_p.T406T|ZNF334_uc002xsd.1_Silent_p.T406T|ZNF334_uc010ghl.1_Silent_p.T443T	NM_018102	NP_955473	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	444	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)												0.183562	126.210754	160.516482	67	298	CC		KEEP	---	---	---	---	capture			Silent	SNP	44564053	44564053	18443	20	C	T	T	31	31	ZNF334	T	1	1
SLC13A3	64849	broad.mit.edu	36	20	44654517	44654517	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44654517G>A	uc002xsf.1	-	c.853C>T	c.(853-855)CTT>TTT	p.L285F	SLC13A3_uc002xsg.1_Missense_Mutation_p.L238F|SLC13A3_uc010gho.1_Missense_Mutation_p.L238F|SLC13A3_uc010ghn.1_Missense_Mutation_p.L254F	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	285	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)									0.336364	101.134078	103.74317	37	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44654517	44654517	14888	20	G	A	A	33	33	SLC13A3	A	2	2
SLC2A10	81031	broad.mit.edu	36	20	44789023	44789023	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44789023G>A	uc002xsl.1	+	c.1402G>A	c.(1402-1404)GAT>AAT	p.D468N		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	468	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.21194	147.356641	173.048926	71	264	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44789023	44789023	15036	20	G	A	A	37	37	SLC2A10	A	1	1
ZMYND8	23613	broad.mit.edu	36	20	45291914	45291914	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:45291914G>T	uc002xtf.1	-	c.2902C>A	c.(2902-2904)CTT>ATT	p.L968I	ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xss.1_Missense_Mutation_p.L923I|ZMYND8_uc002xst.1_Missense_Mutation_p.L830I|ZMYND8_uc002xsu.1_Missense_Mutation_p.L821I|ZMYND8_uc002xsv.1_Missense_Mutation_p.L876I|ZMYND8_uc002xsw.1_Missense_Mutation_p.L654I|ZMYND8_uc002xsx.1_Missense_Mutation_p.L654I|ZMYND8_uc002xsy.1_Missense_Mutation_p.L877I|ZMYND8_uc002xsz.1_Missense_Mutation_p.L839I|ZMYND8_uc002xta.1_Missense_Mutation_p.L948I|ZMYND8_uc002xtb.1_Missense_Mutation_p.L922I|ZMYND8_uc002xtc.1_Missense_Mutation_p.L922I|ZMYND8_uc002xtd.1_Missense_Mutation_p.L897I|ZMYND8_uc002xte.1_Missense_Mutation_p.L902I|ZMYND8_uc002xsr.1_Missense_Mutation_p.L47I|ZMYND8_uc010ghq.1_Missense_Mutation_p.L579I	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform a	948							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5														0.154839	34.087447	51.749509	24	131	GG		KEEP	---	---	---	---	capture	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		Missense_Mutation	SNP	45291914	45291914	18302	20	G	T	T	33	33	ZMYND8	T	3	3
ZMYND8	23613	broad.mit.edu	36	20	45311547	45311547	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:45311547C>T	uc002xtf.1	-	c.1665G>A	c.(1663-1665)TCG>TCA	p.S555S	ZMYND8_uc010ghr.1_Silent_p.S510S|ZMYND8_uc002xss.1_Silent_p.S510S|ZMYND8_uc002xst.1_Silent_p.S463S|ZMYND8_uc002xsu.1_Silent_p.S535S|ZMYND8_uc002xsv.1_Silent_p.S463S|ZMYND8_uc002xsw.1_Silent_p.S287S|ZMYND8_uc002xsx.1_Silent_p.S287S|ZMYND8_uc002xsy.1_Silent_p.S510S|ZMYND8_uc002xsz.1_Silent_p.S472S|ZMYND8_uc002xta.1_Silent_p.S535S|ZMYND8_uc002xtb.1_Silent_p.S555S|ZMYND8_uc002xtc.1_Silent_p.S555S|ZMYND8_uc002xtd.1_Silent_p.S530S|ZMYND8_uc002xte.1_Silent_p.S535S|ZMYND8_uc002xtg.2_Silent_p.S529S|ZMYND8_uc010ghs.1_Silent_p.S529S|ZMYND8_uc010ghq.1_Silent_p.S212S	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform a	535							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5														0.352941	127.554909	130.150125	48	88	CC		KEEP	---	---	---	---	capture	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		Silent	SNP	45311547	45311547	18302	20	C	T	T	23	23	ZMYND8	T	1	1
NCOA3	8202	broad.mit.edu	36	20	45695773	45695773	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:45695773G>T	uc002xtk.1	+	c.950G>T	c.(949-951)CGT>CTT	p.R317L	NCOA3_uc010ght.1_Missense_Mutation_p.R317L|NCOA3_uc002xtl.1_Missense_Mutation_p.R317L|NCOA3_uc002xtm.1_Missense_Mutation_p.R317L|NCOA3_uc002xtn.1_Missense_Mutation_p.R317L	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	317					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding|transcription regulator activity			ovary(3)|lung(1)|skin(1)	5										361				0.419512	269.92318	271.080281	86	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45695773	45695773	10629	20	G	T	T	40	40	NCOA3	T	3	3
NCOA3	8202	broad.mit.edu	36	20	45696313	45696313	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:45696313G>A	uc002xtk.1	+	c.1079G>A	c.(1078-1080)CGA>CAA	p.R360Q	NCOA3_uc010ght.1_Missense_Mutation_p.R370Q|NCOA3_uc002xtl.1_Missense_Mutation_p.R360Q|NCOA3_uc002xtm.1_Missense_Mutation_p.R360Q|NCOA3_uc002xtn.1_Missense_Mutation_p.R360Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	360					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding|transcription regulator activity			ovary(3)|lung(1)|skin(1)	5										361				0.454268	422.726095	423.324054	149	179	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45696313	45696313	10629	20	G	A	A	37	37	NCOA3	A	1	1
NCOA3	8202	broad.mit.edu	36	20	45698319	45698319	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:45698319T>C	uc002xtk.1	+	c.1782T>C	c.(1780-1782)AGT>AGC	p.S594S	NCOA3_uc010ght.1_Silent_p.S604S|NCOA3_uc002xtl.1_Silent_p.S594S|NCOA3_uc002xtm.1_Silent_p.S594S|NCOA3_uc002xtn.1_Silent_p.S594S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	594	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding|transcription regulator activity			ovary(3)|lung(1)|skin(1)	5										361				0.452381	227.580475	227.91166	76	92	TT		KEEP	---	---	---	---	capture			Silent	SNP	45698319	45698319	10629	20	T	C	C	59	59	NCOA3	C	4	4
PREX1	57580	broad.mit.edu	36	20	46695824	46695824	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:46695824C>T	uc002xtw.1	-	c.3484G>A	c.(3484-3486)GAC>AAC	p.D1162N	PREX1_uc002xtv.1_Missense_Mutation_p.D459N	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1162					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6														0.230769	40.511843	45.69207	18	60	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		Missense_Mutation	SNP	46695824	46695824	12919	20	C	T	T	31	31	PREX1	T	1	1
PREX1	57580	broad.mit.edu	36	20	46699959	46699959	+	Missense_Mutation	SNP	C	T	T	rs61748370	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:46699959C>T	uc002xtw.1	-	c.3010G>A	c.(3010-3012)GGC>AGC	p.G1004S	PREX1_uc002xtv.1_Missense_Mutation_p.G301S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1004					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6														0.172619	60.476558	77.481128	29	139	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		Missense_Mutation	SNP	46699959	46699959	12919	20	C	T	T	23	23	PREX1	T	1	1
PREX1	57580	broad.mit.edu	36	20	46742626	46742626	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:46742626C>A	uc002xtw.1	-	c.1027G>T	c.(1027-1029)GAT>TAT	p.D343Y		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	343	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6														0.349515	83.555767	85.619393	36	67	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		Missense_Mutation	SNP	46742626	46742626	12919	20	C	A	A	32	32	PREX1	A	3	3
PREX1	57580	broad.mit.edu	36	20	46877620	46877620	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:46877620C>A	uc002xtw.1	-	c.185G>T	c.(184-186)AGG>ATG	p.R62M		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	62	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6														0.25	6.718424	7.400856	3	9	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		Missense_Mutation	SNP	46877620	46877620	12919	20	C	A	A	24	24	PREX1	A	3	3
ARFGEF2	10564	broad.mit.edu	36	20	47039285	47039285	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47039285G>A	uc002xtx.2	+	c.2590G>A	c.(2590-2592)GCT>ACT	p.A864T		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	864					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)	3						Esophageal Squamous(176;1738 1974 26285 33069 35354)								0.27193	70.865565	76.219357	31	83	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		Missense_Mutation	SNP	47039285	47039285	864	20	G	A	A	42	42	ARFGEF2	A	2	2
CSE1L	1434	broad.mit.edu	36	20	47146330	47146330	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47146330C>T	uc002xty.1	+	c.2864C>T	c.(2863-2865)GCG>GTG	p.A955V	CSE1L_uc010ghx.1_Missense_Mutation_p.A899V|CSE1L_uc010ghy.1_Missense_Mutation_p.A576V|CSE1L_uc002xtz.2_3'UTR	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	955					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)	1														0.176829	48.974504	65.12454	29	135	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		Missense_Mutation	SNP	47146330	47146330	4071	20	C	T	T	27	27	CSE1L	T	1	1
ZNFX1	57169	broad.mit.edu	36	20	47310479	47310479	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47310479T>C	uc002xui.1	-	c.2344A>G	c.(2344-2346)ATG>GTG	p.M782V		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	782							metal ion binding			ovary(2)	2														0.260274	55.997302	59.791222	19	54	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Missense_Mutation	SNP	47310479	47310479	18809	20	T	C	C	50	50	ZNFX1	C	4	4
ZNFX1	57169	broad.mit.edu	36	20	47319917	47319917	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47319917T>C	uc002xui.1	-	c.1839A>G	c.(1837-1839)GAA>GAG	p.E613E		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	613							metal ion binding			ovary(2)	2														0.181319	156.855015	191.571342	66	298	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Silent	SNP	47319917	47319917	18809	20	T	C	C	60	60	ZNFX1	C	4	4
KCNB1	3745	broad.mit.edu	36	20	47531936	47531936	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47531936G>A	uc002xur.1	-	c.489C>T	c.(487-489)TTC>TTT	p.F163F	KCNB1_uc002xus.1_Silent_p.F163F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	163	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1														0.49004	352.097836	352.119811	123	128	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Silent	SNP	47531936	47531936	8317	20	G	A	A	37	37	KCNB1	A	1	1
PTGIS	5740	broad.mit.edu	36	20	47563185	47563185	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47563185G>A	uc002xut.1	-	c.1045C>T	c.(1045-1047)CTC>TTC	p.L349F		NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	349					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|prostaglandin-I synthase activity			ovary(1)	1					Phenylbutazone(DB00812)									0.304348	80.499259	83.62264	28	64	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Missense_Mutation	SNP	47563185	47563185	13207	20	G	A	A	35	35	PTGIS	A	2	2
PTGIS	5740	broad.mit.edu	36	20	47597931	47597931	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47597931G>A	uc002xut.1	-	c.231C>T	c.(229-231)CTC>CTT	p.L77L		NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	77					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|prostaglandin-I synthase activity			ovary(1)	1					Phenylbutazone(DB00812)									0.494792	276.714914	276.719454	95	97	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Silent	SNP	47597931	47597931	13207	20	G	A	A	41	41	PTGIS	A	2	2
SLC23A2	9962	broad.mit.edu	36	20	4785663	4785663	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:4785663G>A	uc002wlg.1	-	c.1908C>T	c.(1906-1908)AGC>AGT	p.S636S	SLC23A2_uc002wlh.1_Silent_p.S636S	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	636					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2														0.33945	273.238922	280.683587	111	216	GG		KEEP	---	---	---	---	capture			Silent	SNP	4785663	4785663	14960	20	G	A	A	38	38	SLC23A2	A	1	1
PTPN1	5770	broad.mit.edu	36	20	48631363	48631363	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:48631363G>A	uc002xvl.1	+	c.1243G>A	c.(1243-1245)GTG>ATG	p.V415M		NM_002827	NP_002818	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type	415					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding				0		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)					178				0.12844	14.894378	29.544088	14	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48631363	48631363	13234	20	G	A	A	40	40	PTPN1	A	1	1
FAM65C	140876	broad.mit.edu	36	20	48652434	48652434	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:48652434T>C	uc002xvm.1	-	c.1229A>G	c.(1228-1230)GAC>GGC	p.D410G	FAM65C_uc002xvn.1_Missense_Mutation_p.D410G	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	410										ovary(2)	2														0.5	281.071519	281.071519	92	92	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48652434	48652434	5824	20	T	C	C	58	58	FAM65C	C	4	4
FAM65C	140876	broad.mit.edu	36	20	48660844	48660844	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:48660844G>A	uc002xvm.1	-	c.367C>T	c.(367-369)CGC>TGC	p.R123C	FAM65C_uc002xvn.1_Missense_Mutation_p.R123C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	123										ovary(2)	2														0.365714	164.837609	167.618582	64	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48660844	48660844	5824	20	G	A	A	38	38	FAM65C	A	1	1
PARD6B	84612	broad.mit.edu	36	20	48799725	48799725	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:48799725G>A	uc002xvo.1	+	c.412G>A	c.(412-414)GAC>AAC	p.D138N		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	138	Pseudo-CRIB.|Interaction with PARD3 and CDC42 (By similarity).				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1														0.212121	74.894798	87.588249	35	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48799725	48799725	11863	20	G	A	A	33	33	PARD6B	A	2	2
PARD6B	84612	broad.mit.edu	36	20	48799979	48799979	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:48799979A>C	uc002xvo.1	+	c.666A>C	c.(664-666)GAA>GAC	p.E222D		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	222	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1														0.214008	120.16881	139.605245	55	202	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48799979	48799979	11863	20	A	C	C	3	3	PARD6B	C	4	4
KCNG1	3755	broad.mit.edu	36	20	49054355	49054355	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49054355G>T	uc002xwa.2	-	c.1170C>A	c.(1168-1170)CTC>CTA	p.L390L		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	390	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2														0.431373	56.433554	56.64444	22	29	GG		KEEP	---	---	---	---	capture			Silent	SNP	49054355	49054355	8332	20	G	T	T	33	33	KCNG1	T	3	3
NFATC2	4773	broad.mit.edu	36	20	49573143	49573143	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49573143G>A	uc002xwd.1	-	c.1044C>T	c.(1042-1044)GCC>GCT	p.A348A	NFATC2_uc002xwc.1_Silent_p.A348A|NFATC2_uc002xwe.1_Silent_p.A328A	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	348					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|transcription activator activity			ovary(2)	2	Hepatocellular(150;0.248)													0.39924	305.560364	307.882792	105	158	GG		KEEP	---	---	---	---	capture			Silent	SNP	49573143	49573143	10762	20	G	A	A	39	39	NFATC2	A	1	1
NFATC2	4773	broad.mit.edu	36	20	49573848	49573848	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49573848G>A	uc002xwd.1	-	c.339C>T	c.(337-339)ATC>ATT	p.I113I	NFATC2_uc002xwc.1_Silent_p.I113I|NFATC2_uc002xwe.1_Silent_p.I93I	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	113	Calcineurin-binding.				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|transcription activator activity			ovary(2)	2	Hepatocellular(150;0.248)													0.447368	141.600789	141.876807	51	63	GG		KEEP	---	---	---	---	capture			Silent	SNP	49573848	49573848	10762	20	G	A	A	37	37	NFATC2	A	1	1
ATP9A	10079	broad.mit.edu	36	20	49721173	49721173	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49721173G>A	uc002xwg.1	-	c.1068C>T	c.(1066-1068)ATC>ATT	p.I356I	ATP9A_uc002xwf.1_Intron|ATP9A_uc010gih.1_Silent_p.I220I	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	356	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4														0.533981	162.72426	162.827215	55	48	GG		KEEP	---	---	---	---	capture			Silent	SNP	49721173	49721173	1217	20	G	A	A	37	37	ATP9A	A	1	1
ATP9A	10079	broad.mit.edu	36	20	49726119	49726119	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49726119C>A	uc002xwg.1	-	c.835G>T	c.(835-837)GAA>TAA	p.E279*	ATP9A_uc002xwf.1_5'UTR|ATP9A_uc010gih.1_Nonsense_Mutation_p.E143*	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	279	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4														0.444444	150.069307	150.410022	56	70	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49726119	49726119	1217	20	C	A	A	32	32	ATP9A	A	5	3
SALL4	57167	broad.mit.edu	36	20	49838910	49838910	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49838910G>A	uc002xwh.2	-	c.2639C>T	c.(2638-2640)TCG>TTG	p.S880L	SALL4_uc010gii.1_Missense_Mutation_p.S443L|SALL4_uc002xwi.2_Missense_Mutation_p.S103L	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	880	C2H2-type 6.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.489362	130.847816	130.856827	46	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49838910	49838910	14293	20	G	A	A	37	37	SALL4	A	1	1
SALL4	57167	broad.mit.edu	36	20	49840365	49840365	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49840365G>A	uc002xwh.2	-	c.2064C>T	c.(2062-2064)ATC>ATT	p.I688I	SALL4_uc010gii.1_Intron|SALL4_uc002xwi.2_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	688					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.495652	159.360859	159.362791	57	58	GG		KEEP	---	---	---	---	capture			Silent	SNP	49840365	49840365	14293	20	G	A	A	37	37	SALL4	A	1	1
ZFP64	55734	broad.mit.edu	36	20	50134909	50134909	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:50134909C>T	uc002xwk.1	-	c.1532G>A	c.(1531-1533)CGC>CAC	p.R511H	ZFP64_uc002xwj.1_Missense_Mutation_p.R292H	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	359	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.127551	24.817423	51.272559	25	171	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50134909	50134909	18241	20	C	T	T	27	27	ZFP64	T	1	1
ZFP64	55734	broad.mit.edu	36	20	50202691	50202691	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:50202691G>A	uc002xwl.1	-	c.1447C>T	c.(1447-1449)CCC>TCC	p.P483S	ZFP64_uc002xwk.1_Intron|ZFP64_uc002xwm.1_Missense_Mutation_p.P481S|ZFP64_uc002xwn.1_Missense_Mutation_p.P429S	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.484615	157.796914	157.827192	63	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50202691	50202691	18241	20	G	A	A	42	42	ZFP64	A	2	2
PCNA	5111	broad.mit.edu	36	20	5046276	5046276	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5046276G>T	uc002wlp.1	-	c.422C>A	c.(421-423)TCT>TAT	p.S141Y	PCNA_uc002wlq.1_Missense_Mutation_p.S141Y	NM_182649	NP_872590	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	141					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			lung(1)	1										90				0.207006	125.382513	150.385093	65	249	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5046276	5046276	12008	20	G	T	T	33	33	PCNA	T	3	3
CDS2	8760	broad.mit.edu	36	20	5102267	5102267	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5102267G>A	uc002wls.1	+	c.156G>A	c.(154-156)CCG>CCA	p.P52P	CDS2_uc002wlr.1_5'UTR|CDS2_uc002wlu.1_Intron|CDS2_uc002wlv.1_5'Flank	NM_003818	NP_003809	O95674	CDS2_HUMAN	phosphatidate cytidylyltransferase 2	52					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity				0														0.195155	320.345918	384.658311	145	598	GG		KEEP	---	---	---	---	capture			Silent	SNP	5102267	5102267	3307	20	G	A	A	39	39	CDS2	A	1	1
ZNF217	7764	broad.mit.edu	36	20	51625798	51625798	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:51625798C>A	uc002xwq.2	-	c.2912G>T	c.(2911-2913)AGG>ATG	p.R971M	ZNF217_uc010gij.1_Missense_Mutation_p.R963M	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	971					regulation of transcription, DNA-dependent	histone deacetylase complex	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			skin(2)|large_intestine(1)|lung(1)|ovary(1)	5	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)									185				0.538012	260.087053	260.300244	92	79	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		Missense_Mutation	SNP	51625798	51625798	18363	20	C	A	A	24	24	ZNF217	A	3	3
ZNF217	7764	broad.mit.edu	36	20	51626072	51626072	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:51626072C>T	uc002xwq.2	-	c.2638G>A	c.(2638-2640)GGT>AGT	p.G880S	ZNF217_uc010gij.1_Missense_Mutation_p.G872S	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	880					regulation of transcription, DNA-dependent	histone deacetylase complex	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			skin(2)|large_intestine(1)|lung(1)|ovary(1)	5	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)									185				0.186869	67.851062	86.051631	37	161	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		Missense_Mutation	SNP	51626072	51626072	18363	20	C	T	T	21	21	ZNF217	T	2	2
ZNF217	7764	broad.mit.edu	36	20	51626568	51626568	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:51626568A>C	uc002xwq.2	-	c.2142T>G	c.(2140-2142)TTT>TTG	p.F714L	ZNF217_uc010gij.1_Missense_Mutation_p.F706L	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	714					regulation of transcription, DNA-dependent	histone deacetylase complex	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			skin(2)|large_intestine(1)|lung(1)|ovary(1)	5	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)									185				0.211982	119.236877	135.871238	46	171	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		Missense_Mutation	SNP	51626568	51626568	18363	20	A	C	C	1	1	ZNF217	C	4	4
ZNF217	7764	broad.mit.edu	36	20	51632541	51632541	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:51632541C>T	uc002xwq.2	-	c.232G>A	c.(232-234)GAA>AAA	p.E78K	ZNF217_uc010gij.1_Missense_Mutation_p.E70K	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	78	C2H2-type 1.				regulation of transcription, DNA-dependent	histone deacetylase complex	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			skin(2)|large_intestine(1)|lung(1)|ovary(1)	5	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)									185				0.415144	471.638614	474.05073	159	224	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		Missense_Mutation	SNP	51632541	51632541	18363	20	C	T	T	32	32	ZNF217	T	2	2
CYP24A1	1591	broad.mit.edu	36	20	52214441	52214441	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:52214441G>T	uc002xwv.2	-	c.801C>A	c.(799-801)GTC>GTA	p.V267V	CYP24A1_uc002xwu.1_Silent_p.V125V|CYP24A1_uc002xww.2_Silent_p.V267V	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	267					hormone biosynthetic process|osteoblast differentiation|oxidation-reduction process|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|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			ovary(1)|lung(1)	2	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)				Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)					1427				0.213115	153.120872	180.984727	78	288	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(23;0.206)		Silent	SNP	52214441	52214441	4319	20	G	T	T	33	33	CYP24A1	T	3	3
PROKR2	128674	broad.mit.edu	36	20	5231331	5231331	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5231331G>A	uc002wlx.2	-	c.510C>T	c.(508-510)GCC>GCT	p.A170A	PROKR2_uc010gbj.1_Silent_p.A170A|PROKR2_uc010gbk.1_Silent_p.A170A	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	170	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.179487	116.695611	146.861281	56	256	GG		KEEP	---	---	---	---	capture			Silent	SNP	5231331	5231331	12996	20	G	A	A	35	35	PROKR2	A	2	2
DOK5	55816	broad.mit.edu	36	20	52525919	52525919	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:52525919G>A	uc002xwy.1	+	c.27G>A	c.(25-27)GTG>GTA	p.V9V	DOK5_uc010gin.1_Intron|DOK5_uc002xwz.1_5'UTR	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	9	PH.						insulin receptor binding			ovary(1)	1														0.291667	32.727835	34.595938	14	34	GG		KEEP	---	---	---	---	capture	Colorectal(105;0.202)		Silent	SNP	52525919	52525919	4884	20	G	A	A	45	45	DOK5	A	2	2
CBLN4	140689	broad.mit.edu	36	20	54012380	54012380	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54012380C>A	uc002xxa.1	-	c.255G>T	c.(253-255)GAG>GAT	p.E85D		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	85	C1q.					cell junction|extracellular region|synapse				ovary(3)|pancreas(1)	4														0.238866	249.66278	280.46131	118	376	CC		KEEP	---	---	---	---	capture	Colorectal(105;0.202)		Missense_Mutation	SNP	54012380	54012380	2826	20	C	A	A	32	32	CBLN4	A	3	3
MC3R	4159	broad.mit.edu	36	20	54257535	54257535	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54257535C>T	uc002xxb.2	+	c.340C>T	c.(340-342)CTC>TTC	p.L114F		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	114	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)	2														0.398496	154.04281	155.24296	53	80	CC		KEEP	---	---	---	---	capture	Colorectal(105;0.202)		Missense_Mutation	SNP	54257535	54257535	9754	20	C	T	T	32	32	MC3R	T	2	2
MC3R	4159	broad.mit.edu	36	20	54258213	54258213	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54258213A>T	uc002xxb.2	+	c.1018A>T	c.(1018-1020)AGC>TGC	p.S340C		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	340	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)	2														0.167095	105.021537	145.908603	65	324	AA		KEEP	---	---	---	---	capture	Colorectal(105;0.202)		Missense_Mutation	SNP	54258213	54258213	9754	20	A	T	T	11	11	MC3R	T	4	4
C20orf108	116151	broad.mit.edu	36	20	54374709	54374709	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54374709C>T	uc002xxc.1	+	c.538C>T	c.(538-540)CGA>TGA	p.R180*		NM_080821	NP_543011	Q96KR6	CT108_HUMAN	hypothetical protein LOC116151	180	DUF1279.					integral to membrane					0														0.440594	251.840167	252.462138	89	113	CC		KEEP	---	---	---	---	capture	Colorectal(105;0.202)		Nonsense_Mutation	SNP	54374709	54374709	2154	20	C	T	T	31	31	C20orf108	T	5	1
CASS4	57091	broad.mit.edu	36	20	54460430	54460430	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54460430C>T	uc002xxp.1	+	c.791C>T	c.(790-792)GCG>GTG	p.A264V	CASS4_uc002xxq.2_Missense_Mutation_p.A264V|CASS4_uc002xxr.1_Missense_Mutation_p.A264V|CASS4_uc010gio.1_Intron	NM_020356	NP_065089	Q9NQ75	CASS4_HUMAN	HEF-like protein	264					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)	2														0.456693	161.830449	162.038252	58	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54460430	54460430	2802	20	C	T	T	27	27	CASS4	T	1	1
GPCPD1	56261	broad.mit.edu	36	20	5498861	5498861	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5498861C>T	uc002wme.2	-	c.1081G>A	c.(1081-1083)GTA>ATA	p.V361I	GPCPD1_uc002wmd.2_Missense_Mutation_p.V180I	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	361	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0														0.186207	49.940617	63.322718	27	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5498861	5498861	6877	20	C	T	T	19	19	GPCPD1	T	1	1
GPCPD1	56261	broad.mit.edu	36	20	5512948	5512948	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5512948C>T	uc002wme.2	-	c.328G>A	c.(328-330)GAT>AAT	p.D110N	GPCPD1_uc002wmd.2_5'UTR	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	110	CBM20.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0														0.210526	66.112942	77.901164	32	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5512948	5512948	6877	20	C	T	T	31	31	GPCPD1	T	1	1
SPO11	23626	broad.mit.edu	36	20	55340388	55340388	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55340388G>T	uc002xye.1	+	c.224G>T	c.(223-225)AGA>ATA	p.R75I	SPO11_uc002xyf.1_Intron	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	75					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)													0.221239	150.516237	174.790072	75	264	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		Missense_Mutation	SNP	55340388	55340388	15590	20	G	T	T	33	33	SPO11	T	3	3
SPO11	23626	broad.mit.edu	36	20	55342498	55342498	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55342498C>T	uc002xye.1	+	c.450C>T	c.(448-450)GTC>GTT	p.V150V	SPO11_uc002xyf.1_Silent_p.V112V	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	150					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)													0.37037	82.024937	83.222454	30	51	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		Silent	SNP	55342498	55342498	15590	20	C	T	T	31	31	SPO11	T	1	1
RAE1	8480	broad.mit.edu	36	20	55377255	55377255	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55377255G>T	uc010git.1	+	c.622G>T	c.(622-624)GAA>TAA	p.E208*	RAE1_uc010gis.1_Nonsense_Mutation_p.E161*|RAE1_uc002xyg.1_Nonsense_Mutation_p.E208*|RAE1_uc002xyh.1_Nonsense_Mutation_p.E208*|RAE1_uc002xyi.1_Nonsense_Mutation_p.E208*	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	208					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)													0.188119	33.157102	42.363922	19	82	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		Nonsense_Mutation	SNP	55377255	55377255	13458	20	G	T	T	33	33	RAE1	T	5	3
CTCFL	140690	broad.mit.edu	36	20	55511912	55511912	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55511912G>A	uc010giw.1	-	c.1826C>T	c.(1825-1827)GCC>GTC	p.A609V	CTCFL_uc010giu.1_Non-coding_Transcript|CTCFL_uc010giv.1_Non-coding_Transcript|CTCFL_uc010gix.1_Missense_Mutation_p.A609V|CTCFL_uc002xym.2_Missense_Mutation_p.A609V|CTCFL_uc010giy.1_Missense_Mutation_p.A279V|CTCFL_uc010giz.1_Missense_Mutation_p.A197V|CTCFL_uc010gja.1_Missense_Mutation_p.A559V|CTCFL_uc010gjb.1_Missense_Mutation_p.A609V|CTCFL_uc010gjc.1_Missense_Mutation_p.A609V|CTCFL_uc010gjd.1_Missense_Mutation_p.A609V|CTCFL_uc010gje.1_Missense_Mutation_p.A609V|CTCFL_uc010gjf.1_Missense_Mutation_p.A404V|CTCFL_uc010gjg.1_Missense_Mutation_p.A341V	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	609					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of gene expression|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|promoter binding|transcription activator activity|zinc ion binding			ovary(2)|large_intestine(1)	3	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)													0.459184	383.850058	384.280492	135	159	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		Missense_Mutation	SNP	55511912	55511912	4160	20	G	A	A	42	42	CTCFL	A	2	2
CTCFL	140690	broad.mit.edu	36	20	55523168	55523168	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55523168G>A	uc010giw.1	-	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	CTCFL_uc010gix.1_Missense_Mutation_p.R406C|CTCFL_uc002xym.2_Missense_Mutation_p.R406C|CTCFL_uc010giy.1_Missense_Mutation_p.R76C|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010gja.1_Intron|CTCFL_uc010gjb.1_Missense_Mutation_p.R406C|CTCFL_uc010gjc.1_Missense_Mutation_p.R406C|CTCFL_uc010gjd.1_Missense_Mutation_p.R406C|CTCFL_uc010gje.1_Missense_Mutation_p.R406C|CTCFL_uc010gjf.1_Missense_Mutation_p.R201C|CTCFL_uc010gjg.1_Missense_Mutation_p.R138C|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.R201C|CTCFL_uc010gjj.1_Missense_Mutation_p.R406C	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	406	C2H2-type 6.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of gene expression|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|promoter binding|transcription activator activity|zinc ion binding			ovary(2)|large_intestine(1)	3	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.202206	122.67218	145.083214	55	217	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		Missense_Mutation	SNP	55523168	55523168	4160	20	G	A	A	39	39	CTCFL	A	1	1
PCK1	5105	broad.mit.edu	36	20	55570577	55570577	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55570577G>A	uc002xyn.2	+	c.269G>A	c.(268-270)AGC>AAC	p.S90N		NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	90					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity				0	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)													0.178808	50.853575	65.501875	27	124	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		Missense_Mutation	SNP	55570577	55570577	12001	20	G	A	A	34	34	PCK1	A	2	2
PCK1	5105	broad.mit.edu	36	20	55571537	55571537	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55571537G>A	uc002xyn.2	+	c.658G>A	c.(658-660)GCC>ACC	p.A220T		NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	220					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity				0	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)													0.160804	46.041134	67.794389	32	167	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		Missense_Mutation	SNP	55571537	55571537	12001	20	G	A	A	38	38	PCK1	A	1	1
PCK1	5105	broad.mit.edu	36	20	55573519	55573519	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55573519G>A	uc002xyn.2	+	c.1336G>A	c.(1336-1338)GAA>AAA	p.E446K		NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	446					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity				0	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)													0.190635	101.072104	127.857099	57	242	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		Missense_Mutation	SNP	55573519	55573519	12001	20	G	A	A	45	45	PCK1	A	2	2
ZBP1	81030	broad.mit.edu	36	20	55613229	55613229	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55613229G>A	uc002xyo.1	-	c.1096C>T	c.(1096-1098)CGT>TGT	p.R366C	ZBP1_uc010gjm.1_Missense_Mutation_p.R365C|ZBP1_uc002xyp.1_Missense_Mutation_p.R291C	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	366							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)													0.357143	141.173139	143.94477	55	99	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		Missense_Mutation	SNP	55613229	55613229	18107	20	G	A	A	37	37	ZBP1	A	1	1
PMEPA1	56937	broad.mit.edu	36	20	55660803	55660803	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55660803G>A	uc002xyq.1	-	c.576C>T	c.(574-576)TTC>TTT	p.F192F	PMEPA1_uc002xyr.1_Silent_p.F142F|PMEPA1_uc002xys.1_Silent_p.F157F|PMEPA1_uc002xyt.1_Silent_p.F142F	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	transmembrane prostate androgen-induced protein	192	Cytoplasmic (Potential).				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			pancreas(1)	1														0.214953	47.167656	55.195265	23	84	GG		KEEP	---	---	---	---	capture			Silent	SNP	55660803	55660803	12558	20	G	A	A	37	37	PMEPA1	A	1	1
C20orf85	128602	broad.mit.edu	36	20	56162054	56162054	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:56162054G>A	uc002xyv.1	+	c.117G>A	c.(115-117)CAG>CAA	p.Q39Q		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	39										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)													0.418283	429.743707	431.851909	151	210	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		Silent	SNP	56162054	56162054	2200	20	G	A	A	33	33	C20orf85	A	2	2
C20orf85	128602	broad.mit.edu	36	20	56164019	56164019	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:56164019G>T	uc002xyv.1	+	c.240G>T	c.(238-240)GAG>GAT	p.E80D		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	80										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)													0.139344	20.090466	35.430894	17	105	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		Missense_Mutation	SNP	56164019	56164019	2200	20	G	T	T	33	33	C20orf85	T	3	3
VAPB	9217	broad.mit.edu	36	20	56443098	56443098	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:56443098G>T	uc002xza.1	+	c.246G>T	c.(244-246)GAG>GAT	p.E82D	VAPB_uc002xzb.1_Intron|VAPB_uc002xzc.1_Intron	NM_004738	NP_004729	O95292	VAPB_HUMAN	VAMP-associated protein B/C	82	Cytoplasmic (Potential).|MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|plasma membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(1)	1	Lung NSC(12;0.000615)|all_lung(29;0.00186)													0.301587	90.789196	95.22645	38	88	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		Missense_Mutation	SNP	56443098	56443098	17687	20	G	T	T	33	33	VAPB	T	3	3
VAPB	9217	broad.mit.edu	36	20	56452554	56452554	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:56452554C>T	uc002xza.1	+	c.589C>T	c.(589-591)CGG>TGG	p.R197W	VAPB_uc002xzb.1_Non-coding_Transcript|VAPB_uc002xzc.1_Missense_Mutation_p.A76V	NM_004738	NP_004729	O95292	VAPB_HUMAN	VAMP-associated protein B/C	197	Cytoplasmic (Potential).				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|plasma membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(1)	1	Lung NSC(12;0.000615)|all_lung(29;0.00186)													0.14841	53.755614	87.357934	42	241	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		Missense_Mutation	SNP	56452554	56452554	17687	20	C	T	T	27	27	VAPB	T	1	1
APCDD1L	164284	broad.mit.edu	36	20	56469613	56469613	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:56469613G>A	uc002xze.1	-	c.1145C>T	c.(1144-1146)GCG>GTG	p.A382V		NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	382						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)													0.213333	54.066975	65.440299	32	118	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		Missense_Mutation	SNP	56469613	56469613	776	20	G	A	A	38	38	APCDD1L	A	1	1
GNAS	2778	broad.mit.edu	36	20	56862503	56862503	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:56862503C>T	uc002xzw.1	+	c.788C>T	c.(787-789)GCG>GTG	p.A263V	GNAS_uc002xzt.1_Intron|GNAS_uc002xzu.2_Intron|GNAS_uc010gjq.1_Intron|GNAS_uc002xzv.1_Non-coding_Transcript	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|large_intestine(5)|parathyroid(5)|kidney(5)|lung(2)|testis(1)|autonomic_ganglia(1)	279	all_lung(29;0.0104)					Colon(117;935 1597 6045 8307 46442)				461	TSP Lung(22;0.16)			0.363636	9.295751	9.476147	4	7	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		Missense_Mutation	SNP	56862503	56862503	6779	20	C	T	T	27	27	GNAS	T	1	1
GNAS	2778	broad.mit.edu	36	20	56863597	56863597	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:56863597C>A	uc002xzw.1	+	c.1882C>A	c.(1882-1884)CCC>ACC	p.P628T	GNAS_uc002xzt.1_Intron|GNAS_uc002xzu.2_Intron|GNAS_uc010gjq.1_Intron|GNAS_uc002xzv.1_Non-coding_Transcript	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|large_intestine(5)|parathyroid(5)|kidney(5)|lung(2)|testis(1)|autonomic_ganglia(1)	279	all_lung(29;0.0104)					Colon(117;935 1597 6045 8307 46442)				461	TSP Lung(22;0.16)			0.447368	45.970962	46.062263	17	21	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		Missense_Mutation	SNP	56863597	56863597	6779	20	C	A	A	26	26	GNAS	A	3	3
TH1L	51497	broad.mit.edu	36	20	57002156	57002156	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57002156G>A	uc002yag.1	+	c.1550G>A	c.(1549-1551)CGA>CAA	p.R517Q	TH1L_uc002yaf.1_Non-coding_Transcript|TH1L_uc002yah.1_Intron	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	517					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)													0.210526	115.251704	135.87845	56	210	GG		KEEP	---	---	---	---	capture	Colorectal(105;0.109)		Missense_Mutation	SNP	57002156	57002156	16367	20	G	A	A	37	37	TH1L	A	1	1
TUBB1	81027	broad.mit.edu	36	20	57031997	57031997	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57031997G>T	uc002yak.1	+	c.224G>T	c.(223-225)AGC>ATC	p.S75I		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	75					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)				Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)									0.191638	106.265265	131.761973	55	232	GG		KEEP	---	---	---	---	capture	Colorectal(105;0.109)		Missense_Mutation	SNP	57031997	57031997	17308	20	G	T	T	34	34	TUBB1	T	3	3
ZNF831	128611	broad.mit.edu	36	20	57199508	57199508	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57199508G>A	uc002yan.1	+	c.39G>A	c.(37-39)GCG>GCA	p.A13A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	13	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.337662	63.524683	65.320036	26	51	GG		KEEP	---	---	---	---	capture			Silent	SNP	57199508	57199508	18784	20	G	A	A	37	37	ZNF831	A	1	1
ZNF831	128611	broad.mit.edu	36	20	57201197	57201197	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57201197C>T	uc002yan.1	+	c.1728C>T	c.(1726-1728)GGC>GGT	p.G576G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	576						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.166667	9.02809	12.822139	6	30	CC		KEEP	---	---	---	---	capture			Silent	SNP	57201197	57201197	18784	20	C	T	T	27	27	ZNF831	T	1	1
ZNF831	128611	broad.mit.edu	36	20	57201838	57201838	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57201838G>A	uc002yan.1	+	c.2369G>A	c.(2368-2370)CGA>CAA	p.R790Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	790						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.283333	39.754406	42.281812	17	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57201838	57201838	18784	20	G	A	A	37	37	ZNF831	A	1	1
ZNF831	128611	broad.mit.edu	36	20	57262772	57262772	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57262772G>T	uc002yan.1	+	c.4613G>T	c.(4612-4614)AGA>ATA	p.R1538I		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1538						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.244444	47.501001	52.860895	22	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57262772	57262772	18784	20	G	T	T	33	33	ZNF831	T	3	3
ZNF831	128611	broad.mit.edu	36	20	57263058	57263058	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57263058G>A	uc002yan.1	+	c.4899G>A	c.(4897-4899)GAG>GAA	p.E1633E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1633						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.506912	324.05171	324.060979	110	107	GG		KEEP	---	---	---	---	capture			Silent	SNP	57263058	57263058	18784	20	G	A	A	34	34	ZNF831	A	2	2
EDN3	1908	broad.mit.edu	36	20	57329578	57329578	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57329578C>T	uc002yap.1	+	c.477C>T	c.(475-477)TGC>TGT	p.C159C	EDN3_uc002yao.1_Silent_p.C159C|EDN3_uc002yaq.1_Silent_p.C159C|EDN3_uc002yar.1_Silent_p.C159C|EDN3_uc002yas.1_Silent_p.C159C	NM_000114	NP_996917	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	159	Endothelin-like.		C -> F (in WS4B).		cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity				0	all_lung(29;0.0115)													0.251678	157.806212	174.491166	75	223	CC		KEEP	---	---	---	---	capture			Silent	SNP	57329578	57329578	5105	20	C	T	T	27	27	EDN3	T	1	1
SYCP2	10388	broad.mit.edu	36	20	57876961	57876961	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57876961G>A	uc002yaz.1	-	c.3890C>T	c.(3889-3891)TCC>TTC	p.S1297F		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1297					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)	3	all_lung(29;0.00344)													0.219298	108.020068	124.577329	50	178	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		Missense_Mutation	SNP	57876961	57876961	15953	20	G	A	A	41	41	SYCP2	A	2	2
SYCP2	10388	broad.mit.edu	36	20	57927978	57927978	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57927978G>A	uc002yaz.1	-	c.367C>T	c.(367-369)CTA>TTA	p.L123L	SYCP2_uc010gju.1_Silent_p.L24L	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	123					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)	3	all_lung(29;0.00344)													0.350877	173.645888	177.001679	60	111	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		Silent	SNP	57927978	57927978	15953	20	G	A	A	33	33	SYCP2	A	2	2
CDH26	60437	broad.mit.edu	36	20	57997478	57997478	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57997478T>C	uc002ybe.1	+	c.1148T>C	c.(1147-1149)GTG>GCG	p.V383A	CDH26_uc002ybf.1_5'UTR	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	383	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)													0.452026	666.881149	667.81453	212	257	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		Missense_Mutation	SNP	57997478	57997478	3239	20	T	C	C	59	59	CDH26	C	4	4
CDH26	60437	broad.mit.edu	36	20	58000938	58000938	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:58000938T>G	uc002ybe.1	+	c.1394T>G	c.(1393-1395)TTT>TGT	p.F465C	CDH26_uc002ybf.1_Missense_Mutation_p.F45C|CDH26_uc002ybg.1_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	465	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)													0.233533	107.865113	118.699033	39	128	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		Missense_Mutation	SNP	58000938	58000938	3239	20	T	G	G	64	64	CDH26	G	4	4
CDH26	60437	broad.mit.edu	36	20	58002907	58002907	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:58002907C>T	uc002ybe.1	+	c.1634C>T	c.(1633-1635)GCG>GTG	p.A545V	CDH26_uc002ybf.1_Missense_Mutation_p.A125V|CDH26_uc002ybg.1_Missense_Mutation_p.A59V|CDH26_uc002ybh.1_5'Flank|CDH26_uc002ybi.1_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	545	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)													0.401639	131.253042	132.283633	49	73	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		Missense_Mutation	SNP	58002907	58002907	3239	20	C	T	T	27	27	CDH26	T	1	1
CHGB	1114	broad.mit.edu	36	20	5852009	5852009	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5852009G>A	uc002wmg.1	+	c.1219G>A	c.(1219-1221)GAA>AAA	p.E407K		NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	407						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.15493	52.586176	76.784013	33	180	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5852009	5852009	3473	20	G	A	A	41	41	CHGB	A	2	2
CHGB	1114	broad.mit.edu	36	20	5853674	5853674	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5853674G>T	uc002wmg.1	+	c.2013G>T	c.(2011-2013)GAG>GAT	p.E671D		NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	671						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.233333	44.023179	49.887411	21	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5853674	5853674	3473	20	G	T	T	33	33	CHGB	T	3	3
MCM8	84515	broad.mit.edu	36	20	5887322	5887322	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5887322G>T	uc002wmk.1	+	c.739G>T	c.(739-741)GAA>TAA	p.E247*	MCM8_uc002wmi.1_Nonsense_Mutation_p.E247*|MCM8_uc002wmj.1_Nonsense_Mutation_p.E247*|MCM8_uc002wml.1_Nonsense_Mutation_p.E247*|MCM8_uc010gbp.1_Nonsense_Mutation_p.E247*	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	247					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1														0.19337	62.804086	78.707048	35	146	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	5887322	5887322	9782	20	G	T	T	33	33	MCM8	T	5	3
SCRT2	85508	broad.mit.edu	36	20	592979	592979	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:592979G>A	uc002wec.1	-	c.260C>T	c.(259-261)CCG>CTG	p.P87L	SRXN1_uc002web.1_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	scratch 2 protein	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.347826	21.278166	21.754854	8	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	592979	592979	14424	20	G	A	A	39	39	SCRT2	A	1	1
CRLS1	54675	broad.mit.edu	36	20	5938444	5938444	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5938444G>T	uc002wmn.2	+	c.330G>T	c.(328-330)CCG>CCT	p.P110P	CRLS1_uc010gbq.1_Non-coding_Transcript|CRLS1_uc010gbr.1_Silent_p.P11P|CRLS1_uc010gbs.1_5'UTR	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1 isoform 1	110	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups				0														0.178161	64.519014	81.488388	31	143	GG		KEEP	---	---	---	---	capture			Silent	SNP	5938444	5938444	4028	20	G	T	T	37	37	CRLS1	T	3	3
LRRN4	164312	broad.mit.edu	36	20	5970776	5970776	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5970776G>A	uc002wmo.2	-	c.1115C>T	c.(1114-1116)GCT>GTT	p.A372V		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	372	Extracellular (Potential).					integral to membrane					0														0.201754	45.171896	54.591098	23	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5970776	5970776	9413	20	G	A	A	34	34	LRRN4	A	2	2
CDH4	1002	broad.mit.edu	36	20	59781455	59781455	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:59781455C>T	uc002ybn.1	+	c.398C>T	c.(397-399)CCG>CTG	p.P133L	CDH4_uc002ybp.1_Missense_Mutation_p.P59L	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	133					adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)	5														0.47619	92.145166	92.176201	30	33	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		Missense_Mutation	SNP	59781455	59781455	3241	20	C	T	T	23	23	CDH4	T	1	1
TAF4	6874	broad.mit.edu	36	20	60012291	60012291	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60012291C>T	uc002ybs.1	-	c.2262G>A	c.(2260-2262)CGG>CGA	p.R754R		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	754					interspecies interaction between organisms|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 TFTC complex	DNA binding|general RNA polymerase II transcription factor activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription initiation factor activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)													0.227642	57.169776	65.457104	28	95	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		Silent	SNP	60012291	60012291	16047	20	C	T	T	26	26	TAF4	T	2	2
TAF4	6874	broad.mit.edu	36	20	60017626	60017626	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60017626C>A	uc002ybs.1	-	c.1762_splice	c.e5-1	p.E588_splice		NM_003185	NP_003176			TBP-associated factor 4						interspecies interaction between organisms|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 TFTC complex	DNA binding|general RNA polymerase II transcription factor activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription initiation factor activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)													0.169014	18.049275	25.422689	12	59	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		Splice_Site_SNP	SNP	60017626	60017626	16047	20	C	A	A	24	24	TAF4	A	5	3
SS18L1	26039	broad.mit.edu	36	20	60171217	60171217	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60171217T>C	uc002ycb.1	+	c.391T>C	c.(391-393)TCC>CCC	p.S131P	SS18L1_uc002ybz.1_Non-coding_Transcript|SS18L1_uc002yca.1_Non-coding_Transcript|SS18L1_uc002ycc.1_Non-coding_Transcript	NM_198935	NP_945173	O75177	CREST_HUMAN	SS18-like protein 1	131	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore	transcription activator activity			ovary(2)	2	Breast(26;3.97e-09)									359				0.19403	29.146804	34.991953	13	54	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		Missense_Mutation	SNP	60171217	60171217	15691	20	T	C	C	58	58	SS18L1	C	4	4
GTPBP5	26164	broad.mit.edu	36	20	60207585	60207585	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60207585G>A	uc002yce.2	+	c.703G>A	c.(703-705)GCC>ACC	p.A235T	GTPBP5_uc010gka.1_Missense_Mutation_p.A7T	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	235	GTP (Potential).|Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)													0.288	82.151881	87.189907	36	89	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;2.5e-08)		Missense_Mutation	SNP	60207585	60207585	7163	20	G	A	A	38	38	GTPBP5	A	1	1
HRH3	11255	broad.mit.edu	36	20	60225113	60225113	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60225113G>A	uc002yci.1	-	c.682C>T	c.(682-684)CGC>TGC	p.R228C	HRH3_uc002ycf.1_Missense_Mutation_p.R228C|HRH3_uc002ycg.1_Missense_Mutation_p.R228C|HRH3_uc002ych.1_Missense_Mutation_p.R228C	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	228	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)				Histamine Phosphate(DB00667)									0.491525	76.339716	76.341124	29	30	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Missense_Mutation	SNP	60225113	60225113	7649	20	G	A	A	38	38	HRH3	A	1	1
LAMA5	3911	broad.mit.edu	36	20	60321204	60321204	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60321204G>A	uc002ycq.1	-	c.9106C>T	c.(9106-9108)CGC>TGC	p.R3036C		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5	3036	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.214286	6.618179	7.672988	3	11	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Missense_Mutation	SNP	60321204	60321204	8932	20	G	A	A	39	39	LAMA5	A	1	1
LAMA5	3911	broad.mit.edu	36	20	60337495	60337495	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60337495G>T	uc002ycq.1	-	c.4247C>A	c.(4246-4248)TCA>TAA	p.S1416*		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5	1416	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.272	72.959678	78.847181	34	91	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Nonsense_Mutation	SNP	60337495	60337495	8932	20	G	T	T	45	45	LAMA5	T	5	3
LAMA5	3911	broad.mit.edu	36	20	60355436	60355436	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60355436C>T	uc002ycq.1	-	c.1000G>A	c.(1000-1002)GAC>AAC	p.D334N		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5	334	Laminin EGF-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.216216	32.607266	38.072516	16	58	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Missense_Mutation	SNP	60355436	60355436	8932	20	C	T	T	31	31	LAMA5	T	1	1
FERMT1	55612	broad.mit.edu	36	20	6038960	6038960	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:6038960G>A	uc002wmr.1	-	c.731C>T	c.(730-732)GCC>GTC	p.A244V	FERMT1_uc010gbt.1_Intron|FERMT1_uc002wms.2_Missense_Mutation_p.A244V|FERMT1_uc002wmt.2_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	244	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)	2														0.259259	49.93575	54.19008	21	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6038960	6038960	6054	20	G	A	A	42	42	FERMT1	A	2	2
FERMT1	55612	broad.mit.edu	36	20	6041206	6041206	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:6041206C>T	uc002wmr.1	-	c.450G>A	c.(448-450)AAG>AAA	p.K150K	FERMT1_uc010gbt.1_5'UTR|FERMT1_uc002wms.2_Silent_p.K150K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	150	Poly-Lys.|FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)	2														0.220408	126.512465	144.15143	54	191	CC		KEEP	---	---	---	---	capture			Silent	SNP	6041206	6041206	6054	20	C	T	T	32	32	FERMT1	T	2	2
GATA5	140628	broad.mit.edu	36	20	60473848	60473848	+	Silent	SNP	C	T	T	rs6061243	by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60473848C>T	uc002ycx.1	-	c.981G>A	c.(979-981)TCG>TCA	p.S327S		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	327					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	promoter binding|zinc ion binding				0	Breast(26;2.05e-08)													0.470588	92.092555	92.143835	32	36	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		Silent	SNP	60473848	60473848	6521	20	C	T	T	31	31	GATA5	T	1	1
NTSR1	4923	broad.mit.edu	36	20	60811430	60811430	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60811430C>T	uc002ydf.1	+	c.426C>T	c.(424-426)CGC>CGT	p.R142R		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	142	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)					GBM(37;400 780 6403 19663 35669)				297				0.429825	131.259193	131.747372	49	65	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		Silent	SNP	60811430	60811430	11115	20	C	T	T	27	27	NTSR1	T	1	1
COL9A3	1299	broad.mit.edu	36	20	60933971	60933971	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60933971C>T	uc002ydm.1	+	c.1308C>T	c.(1306-1308)GGC>GGT	p.G436G		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen	436	Triple-helical region 3 (COL3).				axon guidance	collagen type IX	extracellular matrix structural constituent conferring tensile strength				0	Breast(26;5.68e-08)													0.198895	72.496353	87.772264	36	145	CC		KEEP	---	---	---	---	capture			Silent	SNP	60933971	60933971	3847	20	C	T	T	26	26	COL9A3	T	2	2
DIDO1	11083	broad.mit.edu	36	20	60983298	60983298	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60983298C>A	uc002ydr.1	-	c.4455G>T	c.(4453-4455)CAG>CAT	p.Q1485H	DIDO1_uc002yds.1_Missense_Mutation_p.Q1485H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1485					apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.241877	137.206513	154.124624	67	210	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60983298	60983298	4701	20	C	A	A	32	32	DIDO1	A	3	3
YTHDF1	54915	broad.mit.edu	36	20	61305464	61305464	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61305464C>A	uc002yeh.1	-	c.273G>T	c.(271-273)CAG>CAT	p.Q91H		NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	91										ovary(2)	2														0.136646	28.840771	49.425852	22	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61305464	61305464	18081	20	C	A	A	28	28	YTHDF1	A	3	3
CHRNA4	1137	broad.mit.edu	36	20	61448540	61448540	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61448540C>A	uc002yes.2	-	c.1878G>T	c.(1876-1878)ATG>ATT	p.M626I	CHRNA4_uc002yet.1_Missense_Mutation_p.M450I|CHRNA4_uc010gke.1_Missense_Mutation_p.M555I|CHRNA4_uc002yev.1_Missense_Mutation_p.M450I|CHRNA4_uc010gkf.1_Missense_Mutation_p.M450I	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	626					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)	1	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)									0.212121	12.403967	14.936003	7	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61448540	61448540	3519	20	C	A	A	29	29	CHRNA4	A	3	3
CHRNA4	1137	broad.mit.edu	36	20	61452525	61452525	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61452525C>T	uc002yes.2	-	c.682G>A	c.(682-684)GAG>AAG	p.E228K	CHRNA4_uc002yet.1_Missense_Mutation_p.E52K|CHRNA4_uc010gke.1_Missense_Mutation_p.E157K|CHRNA4_uc002yev.1_Missense_Mutation_p.E52K|CHRNA4_uc010gkf.1_Missense_Mutation_p.E52K	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	228	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)	1	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)									0.444444	139.431418	139.752541	52	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61452525	61452525	3519	20	C	T	T	31	31	CHRNA4	T	1	1
KCNQ2	3785	broad.mit.edu	36	20	61510321	61510321	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61510321G>A	uc002yey.1	-	c.1776C>T	c.(1774-1776)ATC>ATT	p.I592I	KCNQ2_uc002yfa.1_Silent_p.I574I|KCNQ2_uc002yez.1_Silent_p.I561I|KCNQ2_uc002yfb.1_Silent_p.I564I	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	592	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)				Amitriptyline(DB00321)									0.2	12.718329	15.639687	7	28	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Silent	SNP	61510321	61510321	8388	20	G	A	A	37	37	KCNQ2	A	1	1
KCNQ2	3785	broad.mit.edu	36	20	61516893	61516893	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61516893G>T	uc002yey.1	-	c.1332C>A	c.(1330-1332)TTC>TTA	p.F444L	KCNQ2_uc002yfa.1_Missense_Mutation_p.F426L|KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfb.1_Missense_Mutation_p.F416L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	444	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)				Amitriptyline(DB00321)									0.147059	13.016722	21.148356	10	58	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Missense_Mutation	SNP	61516893	61516893	8388	20	G	T	T	33	33	KCNQ2	T	3	3
EEF1A2	1917	broad.mit.edu	36	20	61592468	61592468	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61592468G>A	uc002yfd.1	-	c.837C>T	c.(835-837)ACC>ACT	p.T279T	EEF1A2_uc002yfe.1_Silent_p.T279T|EEF1A2_uc010gkg.1_Silent_p.T279T	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	279						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)													0.19697	57.47588	68.766406	26	106	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		Silent	SNP	61592468	61592468	5111	20	G	A	A	35	35	EEF1A2	A	2	2
SRMS	6725	broad.mit.edu	36	20	61644351	61644351	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61644351G>A	uc002yfi.1	-	c.673C>T	c.(673-675)CGG>TGG	p.R225W		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	225					protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(1)	1	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)									557				0.228261	40.579505	46.779898	21	71	GG		KEEP	---	---	---	---	capture	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		Missense_Mutation	SNP	61644351	61644351	15666	20	G	A	A	38	38	SRMS	A	1	1
PRIC285	85441	broad.mit.edu	36	20	61663765	61663765	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61663765G>A	uc002yfm.2	-	c.6546C>T	c.(6544-6546)ATC>ATT	p.I2182I	PRIC285_uc002yfl.1_Silent_p.I1613I	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	2182					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)													0.405405	41.718088	42.007257	15	22	GG		KEEP	---	---	---	---	capture	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Silent	SNP	61663765	61663765	12928	20	G	A	A	37	37	PRIC285	A	1	1
PRIC285	85441	broad.mit.edu	36	20	61667074	61667074	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61667074G>A	uc002yfm.2	-	c.3545C>T	c.(3544-3546)GCG>GTG	p.A1182V	PRIC285_uc002yfl.1_Missense_Mutation_p.A613V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1182					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)													0.166667	7.992029	11.738712	6	30	GG		KEEP	---	---	---	---	capture	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Missense_Mutation	SNP	61667074	61667074	12928	20	G	A	A	38	38	PRIC285	A	1	1
PRIC285	85441	broad.mit.edu	36	20	61667244	61667244	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61667244C>T	uc002yfm.2	-	c.3375G>A	c.(3373-3375)GAG>GAA	p.E1125E	PRIC285_uc002yfl.1_Silent_p.E556E	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1125					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)													0.473684	46.17709	46.196215	18	20	CC		KEEP	---	---	---	---	capture	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Silent	SNP	61667244	61667244	12928	20	C	T	T	28	28	PRIC285	T	2	2
PRIC285	85441	broad.mit.edu	36	20	61667766	61667766	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61667766G>A	uc002yfm.2	-	c.2853C>T	c.(2851-2853)GTC>GTT	p.V951V	PRIC285_uc002yfl.1_Silent_p.V382V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	951					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)													0.25	22.850517	25.110353	10	30	GG		KEEP	---	---	---	---	capture	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Silent	SNP	61667766	61667766	12928	20	G	A	A	37	37	PRIC285	A	1	1
PRIC285	85441	broad.mit.edu	36	20	61670592	61670592	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61670592G>A	uc002yfm.2	-	c.1293C>T	c.(1291-1293)TTC>TTT	p.F431F	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	431					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)													0.20339	23.472033	28.288724	12	47	GG		KEEP	---	---	---	---	capture	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Silent	SNP	61670592	61670592	12928	20	G	A	A	37	37	PRIC285	A	1	1
GMEB2	26205	broad.mit.edu	36	20	61693907	61693907	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61693907G>A	uc002yfp.1	-	c.864C>T	c.(862-864)TTC>TTT	p.F288F	GMEB2_uc002yfo.1_Silent_p.F210F|GMEB2_uc002yfq.1_Silent_p.F288F	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	288					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding|RNA polymerase II transcription factor activity				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)													0.212389	50.036054	58.678531	24	89	GG		KEEP	---	---	---	---	capture	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		Silent	SNP	61693907	61693907	6757	20	G	A	A	37	37	GMEB2	A	1	1
STMN3	50861	broad.mit.edu	36	20	61743947	61743947	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61743947G>A	uc002yfr.1	-	c.441C>T	c.(439-441)CGC>CGT	p.R147R	STMN3_uc010gki.1_Non-coding_Transcript|STMN3_uc010gkj.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	147	Potential.				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)													0.275862	18.692895	20.001486	8	21	GG		KEEP	---	---	---	---	capture	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		Silent	SNP	61743947	61743947	15830	20	G	A	A	38	38	STMN3	A	1	1
STMN3	50861	broad.mit.edu	36	20	61745682	61745682	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61745682G>A	uc002yfr.1	-	c.162C>T	c.(160-162)TTC>TTT	p.F54F	STMN3_uc010gki.1_Non-coding_Transcript|STMN3_uc010gkj.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	54					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)													0.423611	337.20237	338.666197	122	166	GG		KEEP	---	---	---	---	capture	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		Silent	SNP	61745682	61745682	15830	20	G	A	A	37	37	STMN3	A	1	1
STMN3	50861	broad.mit.edu	36	20	61746015	61746015	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61746015G>A	uc002yfr.1	-	c.111C>T	c.(109-111)TAC>TAT	p.Y37Y	STMN3_uc010gki.1_Non-coding_Transcript|STMN3_uc010gkj.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	37					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)													0.480769	67.759461	67.776482	25	27	GG		KEEP	---	---	---	---	capture	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		Silent	SNP	61746015	61746015	15830	20	G	A	A	40	40	STMN3	A	1	1
RTEL1	51750	broad.mit.edu	36	20	61791636	61791636	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61791636C>T	uc002yft.1	+	c.2115C>T	c.(2113-2115)TAC>TAT	p.Y705Y	RTEL1_uc002yfu.1_Silent_p.Y705Y|RTEL1_uc002yfw.1_Non-coding_Transcript|RTEL1_uc002yfx.1_De_novo_Start_OutOfFrame	NM_032957	NP_116575	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	705					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)													0.186667	26.212217	33.107045	14	61	CC		KEEP	---	---	---	---	capture	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		Silent	SNP	61791636	61791636	14200	20	C	T	T	19	19	RTEL1	T	1	1
TNFRSF6B	8771	broad.mit.edu	36	20	61800106	61800106	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61800106G>A	uc002yfy.1	+	c.649G>A	c.(649-651)GAC>AAC	p.D217N	RTEL1_uc002yfw.1_Non-coding_Transcript|TNFRSF6B_uc002yfz.1_Missense_Mutation_p.D217N	NM_032945	NP_116563	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily,	217					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)													0.443038	97.610928	97.834593	35	44	GG		KEEP	---	---	---	---	capture	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		Missense_Mutation	SNP	61800106	61800106	16839	20	G	A	A	37	37	TNFRSF6B	A	1	1
LIME1	54923	broad.mit.edu	36	20	61840526	61840526	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61840526G>A	uc002ygp.2	+	c.717G>A	c.(715-717)CCG>CCA	p.P239P	ZGPAT_uc002ygn.2_Non-coding_Transcript|LIME1_uc002ygo.2_Silent_p.P144P|SLC2A4RG_uc002ygq.1_5'Flank|SLC2A4RG_uc002ygr.1_5'Flank|SLC2A4RG_uc002ygs.1_5'Flank	NM_017806	NP_060276	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	239	Cytoplasmic (Potential).					integral to membrane|plasma membrane					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)													0.452381	101.753749	101.916603	38	46	GG		KEEP	---	---	---	---	capture			Silent	SNP	61840526	61840526	9126	20	G	A	A	38	38	LIME1	A	1	1
TPD52L2	7165	broad.mit.edu	36	20	61991007	61991007	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61991007C>T	uc002ygy.1	+	c.566C>T	c.(565-567)TCG>TTG	p.S189L	TPD52L2_uc002ygz.1_Missense_Mutation_p.S180L|TPD52L2_uc002yha.1_Missense_Mutation_p.S169L|TPD52L2_uc002yhb.1_Missense_Mutation_p.S160L|TPD52L2_uc002yhc.1_Missense_Mutation_p.S166L|TPD52L2_uc002yhd.1_Missense_Mutation_p.S146L|TPD52L2_uc002yhe.1_Missense_Mutation_p.S65L	NM_199360	NP_955392	O43399	TPD54_HUMAN	tumor protein D52-like 2 isoform a	166					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			ovary(1)	1	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)													0.227273	64.878964	73.893718	30	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61991007	61991007	16943	20	C	T	T	31	31	TPD52L2	T	1	1
PRPF6	24148	broad.mit.edu	36	20	62128895	62128895	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:62128895G>T	uc002yho.1	+	c.2145G>T	c.(2143-2145)AAG>AAT	p.K715N	PRPF6_uc002yhp.1_Missense_Mutation_p.K675N	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	715	HAT 7.				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)													0.236025	78.96509	89.229253	38	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62128895	62128895	13017	20	G	T	T	35	35	PRPF6	T	3	3
MYT1	4661	broad.mit.edu	36	20	62306891	62306891	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:62306891G>A	uc002yii.1	+	c.146G>A	c.(145-147)CGA>CAA	p.R49Q	MYT1_uc002yih.2_Missense_Mutation_p.R49Q|MYT1_uc002yij.1_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	49	C2HC-type 1.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GBM(59;481 1041 20555 21139 33705)				1819				0.208333	69.528611	82.771687	35	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62306891	62306891	10501	20	G	A	A	37	37	MYT1	A	1	1
PCMTD2	55251	broad.mit.edu	36	20	62361871	62361871	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:62361871G>A	uc002yil.2	+	c.109G>A	c.(109-111)GAT>AAT	p.D37N	PCMTD2_uc002yim.2_Missense_Mutation_p.D37N	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	37						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)													0.426901	204.541329	205.33918	73	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62361871	62361871	12007	20	G	A	A	37	37	PCMTD2	A	1	1
C20orf54	113278	broad.mit.edu	36	20	694129	694129	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:694129G>A	uc002wed.2	-	c.290C>T	c.(289-291)TCC>TTC	p.S97F	C20orf54_uc002wee.2_Missense_Mutation_p.S97F	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278	97					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2														0.214286	12.835248	14.945814	6	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	694129	694129	2194	20	G	A	A	41	41	C20orf54	A	2	2
C20orf54	113278	broad.mit.edu	36	20	694383	694383	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:694383G>A	uc002wed.2	-	c.36C>T	c.(34-36)TTC>TTT	p.F12F	C20orf54_uc002wee.2_Silent_p.F12F	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278	12	Helical; (Potential).				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2														0.214286	25.769497	29.991286	12	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	694383	694383	2194	20	G	A	A	37	37	C20orf54	A	1	1
TMX4	56255	broad.mit.edu	36	20	7911181	7911181	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:7911181T>C	uc002wmx.1	-	c.767A>G	c.(766-768)AAC>AGC	p.N256S		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	256	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0														0.464706	271.045418	271.225517	79	91	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7911181	7911181	16810	20	T	C	C	60	60	TMX4	C	4	4
ANGPT4	51378	broad.mit.edu	36	20	806842	806842	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:806842G>A	uc002wei.1	-	c.1182C>T	c.(1180-1182)TAC>TAT	p.Y394Y		NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4	394	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						Pancreas(181;481 2077 3259 31286 49856)								0.297872	66.06306	69.497169	28	66	GG		KEEP	---	---	---	---	capture			Silent	SNP	806842	806842	615	20	G	A	A	40	40	ANGPT4	A	1	1
PLCB1	23236	broad.mit.edu	36	20	8670140	8670140	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:8670140C>T	uc002wnb.1	+	c.2443C>T	c.(2443-2445)CGA>TGA	p.R815*	PLCB1_uc002wna.1_Nonsense_Mutation_p.R815*|PLCB1_uc002wnc.1_Nonsense_Mutation_p.R714*|PLCB1_uc002wnd.1_Nonsense_Mutation_p.R392*	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	815					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 gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|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|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.217949	42.131578	47.851949	17	61	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	8670140	8670140	12453	20	C	T	T	23	23	PLCB1	T	5	1
PLCB1	23236	broad.mit.edu	36	20	8685733	8685733	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:8685733C>T	uc002wnb.1	+	c.2564C>T	c.(2563-2565)GCG>GTG	p.A855V	PLCB1_uc002wna.1_Missense_Mutation_p.A855V|PLCB1_uc002wnc.1_Missense_Mutation_p.A754V|PLCB1_uc002wnd.1_Missense_Mutation_p.A432V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	855					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 gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|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|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.21393	80.501105	95.714108	43	158	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8685733	8685733	12453	20	C	T	T	27	27	PLCB1	T	1	1
PLCB1	23236	broad.mit.edu	36	20	8689066	8689066	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:8689066C>T	uc002wnb.1	+	c.2669C>T	c.(2668-2670)GCA>GTA	p.A890V	PLCB1_uc002wna.1_Missense_Mutation_p.A890V|PLCB1_uc002wnc.1_Missense_Mutation_p.A789V|PLCB1_uc002wnd.1_Missense_Mutation_p.A467V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	890					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 gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|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|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.440299	150.470403	150.891532	59	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8689066	8689066	12453	20	C	T	T	25	25	PLCB1	T	2	2
PLCB4	5332	broad.mit.edu	36	20	9318546	9318546	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:9318546G>T	uc002wne.1	+	c.1179G>T	c.(1177-1179)AAG>AAT	p.K393N	PLCB4_uc010gbw.1_Missense_Mutation_p.K393N|PLCB4_uc010gbx.1_Missense_Mutation_p.K393N|PLCB4_uc002wnf.1_Missense_Mutation_p.K393N|PLCB4_uc002wnh.1_Missense_Mutation_p.K240N	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform a	393	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			ovary(3)|pancreas(1)|skin(1)	5														0.226087	107.658577	123.525447	52	178	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9318546	9318546	12456	20	G	T	T	35	35	PLCB4	T	3	3
PLCB4	5332	broad.mit.edu	36	20	9350046	9350046	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:9350046C>T	uc002wne.1	+	c.2221C>T	c.(2221-2223)CGC>TGC	p.R741C	PLCB4_uc010gbw.1_Missense_Mutation_p.R741C|PLCB4_uc010gbx.1_Missense_Mutation_p.R753C|PLCB4_uc002wnf.1_Missense_Mutation_p.R741C|PLCB4_uc002wnh.1_Missense_Mutation_p.R588C	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform a	741	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			ovary(3)|pancreas(1)|skin(1)	5														0.227273	97.871421	111.391171	45	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9350046	9350046	12456	20	C	T	T	31	31	PLCB4	T	1	1
C20orf103	24141	broad.mit.edu	36	20	9458327	9458327	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:9458327G>T	uc002wni.1	+	c.703G>T	c.(703-705)GAA>TAA	p.E235*		NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	chromosome 20 open reading frame 103 precursor	235	Extracellular (Potential).					integral to membrane				lung(1)|breast(1)	2														0.173913	43.889609	60.066948	28	133	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(9;0.194)		Nonsense_Mutation	SNP	9458327	9458327	2151	20	G	T	T	33	33	C20orf103	T	5	3
ANKRD5	63926	broad.mit.edu	36	20	9974268	9974268	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:9974268C>T	uc002wno.1	+	c.743C>T	c.(742-744)TCG>TTG	p.S248L	ANKRD5_uc002wnp.1_Missense_Mutation_p.S248L|ANKRD5_uc010gbz.1_Missense_Mutation_p.S59L	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	248							calcium ion binding			ovary(1)|breast(1)	2														0.45614	223.937489	224.222538	78	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9974268	9974268	684	20	C	T	T	31	31	ANKRD5	T	1	1
ANKRD5	63926	broad.mit.edu	36	20	9983116	9983116	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:9983116C>A	uc002wno.1	+	c.2041C>A	c.(2041-2043)CTG>ATG	p.L681M	ANKRD5_uc002wnp.1_Missense_Mutation_p.L681M|ANKRD5_uc010gbz.1_Missense_Mutation_p.L492M	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	681							calcium ion binding			ovary(1)|breast(1)	2														0.321739	97.21695	100.472234	37	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9983116	9983116	684	20	C	A	A	28	28	ANKRD5	A	3	3
ANKRD5	63926	broad.mit.edu	36	20	9984237	9984237	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:9984237G>A	uc002wno.1	+	c.2260G>A	c.(2260-2262)GAT>AAT	p.D754N	ANKRD5_uc002wnp.1_Missense_Mutation_p.D754N|ANKRD5_uc010gbz.1_Missense_Mutation_p.D565N	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	754							calcium ion binding			ovary(1)|breast(1)	2														0.218045	61.703879	71.451071	29	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9984237	9984237	684	20	G	A	A	37	37	ANKRD5	A	1	1
POTED	317754	broad.mit.edu	36	21	13904711	13904711	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:13904711G>T	uc002yjb.1	+	c.291G>T	c.(289-291)AAG>AAT	p.K97N		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	pote protein	97						plasma membrane				ovary(3)	3														0.168776	59.124843	83.79137	40	197	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13904711	13904711	12693	21	G	T	T	33	33	POTED	T	3	3
POTED	317754	broad.mit.edu	36	21	13922573	13922573	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:13922573G>T	uc002yjb.1	+	c.1127_splice	c.e7-1	p.E376_splice		NM_174981	NP_778146			pote protein							plasma membrane				ovary(3)	3														0.26776	111.575459	120.500937	49	134	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	13922573	13922573	12693	21	G	T	T	33	33	POTED	T	5	3
LIPI	149998	broad.mit.edu	36	21	14459501	14459501	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:14459501G>T	uc002yjm.1	-	c.878C>A	c.(877-879)TCA>TAA	p.S293*	LIPI_uc010gkw.1_Nonsense_Mutation_p.S196*	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	272					lipid catabolic process	extracellular region|extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2														0.19375	57.120012	71.138513	31	129	GG		KEEP	---	---	---	---	capture		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	Nonsense_Mutation	SNP	14459501	14459501	9152	21	G	T	T	45	45	LIPI	T	5	3
HSPA13	6782	broad.mit.edu	36	21	14672523	14672523	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:14672523G>A	uc002yjt.1	-	c.448C>T	c.(448-450)CGA>TGA	p.R150*		NM_006948	NP_008879	P48723	HSP13_HUMAN	heat shock protein 70kDa family member 13	150						endoplasmic reticulum|microsome	ATP binding			kidney(1)	1														0.198582	53.817788	65.747293	28	113	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	14672523	14672523	7705	21	G	A	A	37	37	HSPA13	A	5	1
NRIP1	8204	broad.mit.edu	36	21	15259564	15259564	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:15259564G>T	uc002yjx.1	-	c.2821C>A	c.(2821-2823)CTC>ATC	p.L941I	NRIP1_uc010gkz.1_Missense_Mutation_p.L941I	NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	941					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0														0.214511	135.177864	159.005033	68	249	GG		KEEP	---	---	---	---	capture		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	Missense_Mutation	SNP	15259564	15259564	11057	21	G	T	T	33	33	NRIP1	T	3	3
NRIP1	8204	broad.mit.edu	36	21	15259674	15259674	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:15259674C>A	uc002yjx.1	-	c.2711G>T	c.(2710-2712)AGA>ATA	p.R904I	NRIP1_uc010gkz.1_Missense_Mutation_p.R904I	NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	904					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0														0.404878	434.016019	437.271411	166	244	CC		KEEP	---	---	---	---	capture		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	Missense_Mutation	SNP	15259674	15259674	11057	21	C	A	A	32	32	NRIP1	A	3	3
NRIP1	8204	broad.mit.edu	36	21	15261200	15261200	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:15261200T>G	uc002yjx.1	-	c.1185A>C	c.(1183-1185)GGA>GGC	p.G395G	NRIP1_uc010gkz.1_Silent_p.G395G	NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	395					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0														0.197339	223.808719	262.309757	89	362	TT		KEEP	---	---	---	---	capture		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	Silent	SNP	15261200	15261200	11057	21	T	G	G	58	58	NRIP1	G	4	4
USP25	29761	broad.mit.edu	36	21	16158625	16158625	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:16158625T>G	uc002yjz.1	+	c.2601T>G	c.(2599-2601)AGT>AGG	p.S867R	USP25_uc002yjy.1_Missense_Mutation_p.S835R|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific protease 25	835					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5														0.274336	86.473422	91.659405	31	82	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	16158625	16158625	17619	21	T	G	G	60	60	USP25	G	4	4
BTG3	10950	broad.mit.edu	36	21	17888335	17888335	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:17888335T>C	uc002ykl.1	-	c.838A>G	c.(838-840)ATG>GTG	p.M280V	BTG3_uc002ykk.1_Missense_Mutation_p.M236V	NM_006806	NP_006797	Q14201	BTG3_HUMAN	B-cell translocation gene 3 isoform b	236					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm					0														0.465278	224.614571	224.765283	67	77	TT		KEEP	---	---	---	---	capture		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	Missense_Mutation	SNP	17888335	17888335	1589	21	T	C	C	52	52	BTG3	C	4	4
TMPRSS15	5651	broad.mit.edu	36	21	18692484	18692484	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:18692484G>A	uc002ykw.1	-	c.179C>T	c.(178-180)GCG>GTG	p.A60V		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	60	Extracellular (Potential).|SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|breast(1)	6														0.263158	114.959528	124.603289	50	140	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18692484	18692484	16787	21	G	A	A	38	38	TMPRSS15	A	1	1
NCAM2	4685	broad.mit.edu	36	21	21578385	21578385	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:21578385C>T	uc002yld.1	+	c.131C>T	c.(130-132)GCG>GTG	p.A44V		NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	44	Ig-like C2-type 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)												0.185484	42.369343	53.857786	23	101	CC		KEEP	---	---	---	---	capture		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	Missense_Mutation	SNP	21578385	21578385	10602	21	C	T	T	27	27	NCAM2	T	1	1
JAM2	58494	broad.mit.edu	36	21	25992926	25992926	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:25992926G>A	uc002ylp.1	+	c.461G>A	c.(460-462)CGA>CAA	p.R154Q	JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc002ylr.1_Missense_Mutation_p.R154Q|JAM2_uc010glh.1_Non-coding_Transcript|JAM2_uc010gli.1_Missense_Mutation_p.R154Q	NM_021219	NP_067042	P57087	JAM2_HUMAN	junctional adhesion molecule 2 precursor	154	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction					0														0.149425	18.527921	28.779202	13	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25992926	25992926	8247	21	G	A	A	37	37	JAM2	A	1	1
GABPA	2551	broad.mit.edu	36	21	26058485	26058485	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:26058485C>T	uc002ylx.2	+	c.896C>T	c.(895-897)GCG>GTG	p.A299V	GABPA_uc002yly.2_Missense_Mutation_p.A299V	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	299					positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	promoter binding|protein heterodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)	2														0.217391	62.277983	72.441059	30	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26058485	26058485	6408	21	C	T	T	27	27	GABPA	T	1	1
APP	351	broad.mit.edu	36	21	26185978	26185978	+	Missense_Mutation	SNP	G	A	A	rs1800557	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:26185978G>A	uc002ylz.1	-	c.2138C>T	c.(2137-2139)GCG>GTG	p.A713V	APP_uc002yma.1_Missense_Mutation_p.A694V|APP_uc002ymb.1_Missense_Mutation_p.A638V|APP_uc010glj.1_Missense_Mutation_p.A582V	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	713	Helical; (Potential).	Cleavage; by gamma-secretase; site 2.	A -> T (in AD1).		adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)												0.437838	215.730994	216.356369	81	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26185978	26185978	826	21	G	A	A	38	38	APP	A	1	1
APP	351	broad.mit.edu	36	21	26345232	26345232	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:26345232G>A	uc002ylz.1	-	c.617C>T	c.(616-618)TCG>TTG	p.S206L	APP_uc002yma.1_Missense_Mutation_p.S206L|APP_uc002ymb.1_Missense_Mutation_p.S206L|APP_uc010glj.1_Missense_Mutation_p.S150L|APP_uc010glk.1_Missense_Mutation_p.S201L	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	206	Extracellular (Potential).			S->A: Reduced casein kinase phosphorylation.	adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)												0.144509	31.333051	52.441803	25	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26345232	26345232	826	21	G	A	A	37	37	APP	A	1	1
CYYR1	116159	broad.mit.edu	36	21	26762767	26762767	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:26762767G>A	uc002yme.2	-	c.392C>T	c.(391-393)CCT>CTT	p.P131L	CYYR1_uc002ymd.1_Missense_Mutation_p.P130L	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	130	Cytoplasmic (Potential).					integral to membrane					0														0.271605	119.828004	127.447793	44	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26762767	26762767	4376	21	G	A	A	35	35	CYYR1	A	2	2
ADAMTS1	9510	broad.mit.edu	36	21	27132691	27132691	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:27132691A>C	uc002ymf.1	-	c.2142T>G	c.(2140-2142)TGT>TGG	p.C714W		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	714	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)												0.445055	283.470775	283.946257	81	101	AA		KEEP	---	---	---	---	capture		Lung(58;0.215)	Missense_Mutation	SNP	27132691	27132691	256	21	A	C	C	6	6	ADAMTS1	C	4	4
ADAMTS1	9510	broad.mit.edu	36	21	27136759	27136759	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:27136759G>T	uc002ymf.1	-	c.847C>A	c.(847-849)CTC>ATC	p.L283I		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	283	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)												0.460606	198.845936	199.072039	76	89	GG		KEEP	---	---	---	---	capture		Lung(58;0.215)	Missense_Mutation	SNP	27136759	27136759	256	21	G	T	T	33	33	ADAMTS1	T	3	3
ADAMTS5	11096	broad.mit.edu	36	21	27218453	27218453	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:27218453A>G	uc002ymg.1	-	c.2583T>C	c.(2581-2583)TCT>TCC	p.S861S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	861	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.414226	298.985305	300.519153	99	140	AA		KEEP	---	---	---	---	capture			Silent	SNP	27218453	27218453	270	21	A	G	G	7	7	ADAMTS5	G	4	4
USP16	10600	broad.mit.edu	36	21	29322140	29322140	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:29322140C>T	uc002ymw.1	+	c.35C>T	c.(34-36)CCA>CTA	p.P12L	USP16_uc002ymy.1_Missense_Mutation_p.P12L|USP16_uc002ymx.1_Missense_Mutation_p.P12L	NM_001032410	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	12					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			pancreas(1)	1						Melanoma(92;625 1444 27493 34101 44971)								0.208333	42.841507	50.410011	20	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29322140	29322140	17609	21	C	T	T	21	21	USP16	T	2	2
USP16	10600	broad.mit.edu	36	21	29341441	29341441	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:29341441C>T	uc002ymw.1	+	c.1939C>T	c.(1939-1941)CGA>TGA	p.R647*	USP16_uc002ymy.1_Nonsense_Mutation_p.R647*|USP16_uc002ymx.1_Nonsense_Mutation_p.R646*	NM_001032410	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	647					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			pancreas(1)	1						Melanoma(92;625 1444 27493 34101 44971)								0.477733	337.890874	337.992436	118	129	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	29341441	29341441	17609	21	C	T	T	31	31	USP16	T	5	1
BACH1	571	broad.mit.edu	36	21	29615555	29615555	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:29615555G>A	uc002ynj.1	+	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	BACH1_uc002ynk.1_Missense_Mutation_p.R28Q|BACH1_uc002ynl.1_Missense_Mutation_p.R28Q	NM_001186	NP_996749	O14867	BACH1_HUMAN	BTB and CNC homology 1 isoform a	28					regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2														0.18797	105.994759	130.239869	50	216	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29615555	29615555	1304	21	G	A	A	39	39	BACH1	A	1	1
BACH1	571	broad.mit.edu	36	21	29623827	29623827	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:29623827G>A	uc002ynj.1	+	c.1718G>A	c.(1717-1719)CGC>CAC	p.R573H	BACH1_uc002ynk.1_Missense_Mutation_p.R573H|BACH1_uc002ynl.1_Missense_Mutation_p.R573H	NM_001186	NP_996749	O14867	BACH1_HUMAN	BTB and CNC homology 1 isoform a	573	Basic motif.				regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2														0.192982	21.152638	26.124432	11	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29623827	29623827	1304	21	G	A	A	38	38	BACH1	A	1	1
BACH1	571	broad.mit.edu	36	21	29636590	29636590	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:29636590G>A	uc002ynj.1	+	c.1777_splice	c.e5-1	p.Q593_splice	BACH1_uc002ynk.1_Splice_Site_SNP_p.Q593_splice|BACH1_uc002ynl.1_Intron	NM_001186	NP_996749			BTB and CNC homology 1 isoform a						regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2														0.480874	273.686618	273.74508	88	95	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	29636590	29636590	1304	21	G	A	A	34	34	BACH1	A	5	2
GRIK1	2897	broad.mit.edu	36	21	29893096	29893096	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:29893096G>T	uc002yno.1	-	c.1131C>A	c.(1129-1131)ACC>ACA	p.T377T	GRIK1_uc002ynn.1_Silent_p.T377T|GRIK1_uc010glq.1_Silent_p.T235T|GRIK1_uc002ynr.2_Silent_p.T377T	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	377	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|Topiramate(DB00273)					608				0.434783	271.724592	272.58345	100	130	GG		KEEP	---	---	---	---	capture			Silent	SNP	29893096	29893096	7052	21	G	T	T	35	35	GRIK1	T	3	3
CLDN8	9073	broad.mit.edu	36	21	30509995	30509995	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:30509995G>A	uc002ynu.1	-	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														0.460993	367.12507	367.497139	130	152	GG		KEEP	---	---	---	---	capture			Silent	SNP	30509995	30509995	3628	21	G	A	A	37	37	CLDN8	A	1	1
KRTAP11-1	337880	broad.mit.edu	36	21	31175406	31175406	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:31175406C>T	uc002yov.1	-	c.309G>A	c.(307-309)CCG>CCA	p.P103P		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	103						keratin filament	structural molecule activity			pancreas(1)	1														0.413534	143.783798	144.655043	55	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	31175406	31175406	8832	21	C	T	T	27	27	KRTAP11-1	T	1	1
TIAM1	7074	broad.mit.edu	36	21	31546011	31546011	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:31546011C>A	uc002yow.1	-	c.1329G>T	c.(1327-1329)AAG>AAT	p.K443N	TIAM1_uc002yox.1_Missense_Mutation_p.K51N	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	443	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.200787	92.151927	113.328778	51	203	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31546011	31546011	16418	21	C	A	A	32	32	TIAM1	A	3	3
TIAM1	7074	broad.mit.edu	36	21	31560506	31560506	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:31560506C>T	uc002yow.1	-	c.654G>A	c.(652-654)GCG>GCA	p.A218A	TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	218					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.180905	63.885497	82.933479	36	163	CC		KEEP	---	---	---	---	capture			Silent	SNP	31560506	31560506	16418	21	C	T	T	31	31	TIAM1	T	1	1
TIAM1	7074	broad.mit.edu	36	21	31561052	31561052	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:31561052C>T	uc002yow.1	-	c.108G>A	c.(106-108)ACG>ACA	p.T36T	TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	36					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5									p.T36T(OC316-Tumor)	780				0.210526	47.337903	56.177708	24	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	31561052	31561052	16418	21	C	T	T	27	27	TIAM1	T	1	1
SFRS15	57466	broad.mit.edu	36	21	31989006	31989006	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:31989006C>T	uc002ypd.1	-	c.1227G>A	c.(1225-1227)CCG>CCA	p.P409P	SFRS15_uc002ype.1_Silent_p.P409P|SFRS15_uc010glu.1_Silent_p.P394P|SFRS15_uc002ypf.1_Silent_p.P83P	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	409						nucleus	nucleotide binding|RNA binding				0														0.379845	129.235449	130.871966	49	80	CC		KEEP	---	---	---	---	capture			Silent	SNP	31989006	31989006	14661	21	C	T	T	27	27	SFRS15	T	1	1
SFRS15	57466	broad.mit.edu	36	21	31998059	31998059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:31998059G>A	uc002ypd.1	-	c.211C>T	c.(211-213)CGA>TGA	p.R71*	SFRS15_uc002ype.1_Nonsense_Mutation_p.R71*|SFRS15_uc010glu.1_Nonsense_Mutation_p.R56*|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.1_Nonsense_Mutation_p.R71*	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	71	CID.					nucleus	nucleotide binding|RNA binding				0														0.505319	273.231997	273.236938	95	93	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	31998059	31998059	14661	21	G	A	A	38	38	SFRS15	A	5	1
SYNJ1	8867	broad.mit.edu	36	21	32989283	32989283	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:32989283T>G	uc002yqh.1	-	c.660A>C	c.(658-660)GGA>GGC	p.G220G	SYNJ1_uc002yqf.1_Silent_p.G220G|SYNJ1_uc002yqg.1_Silent_p.G220G|SYNJ1_uc002yqi.1_Silent_p.G220G	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	220	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)	4														0.20274	193.173301	223.103424	74	291	TT		KEEP	---	---	---	---	capture			Silent	SNP	32989283	32989283	15973	21	T	G	G	62	62	SYNJ1	G	4	4
IFNAR1	3454	broad.mit.edu	36	21	33629812	33629812	+	Silent	SNP	C	T	T	rs61735334	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33629812C>T	uc002yrn.1	+	c.189C>T	c.(187-189)TTC>TTT	p.F63F		NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	63	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)	1					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	Esophageal Squamous(73;817 1211 32990 35667 42746)								0.237569	97.630773	109.02382	43	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	33629812	33629812	7845	21	C	T	T	31	31	IFNAR1	T	1	1
TMEM50B	757	broad.mit.edu	36	21	33759538	33759538	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33759538G>A	uc002yrt.1	-	c.261C>T	c.(259-261)AGC>AGT	p.S87S	TMEM50B_uc002yrs.1_Non-coding_Transcript|TMEM50B_uc010gmb.1_Non-coding_Transcript	NM_006134	NP_006125	P56557	TM50B_HUMAN	transmembrane protein 50B	87						endoplasmic reticulum|integral to membrane|plasma membrane				ovary(1)|skin(1)	2														0.270968	99.177964	106.514541	42	113	GG		KEEP	---	---	---	---	capture			Silent	SNP	33759538	33759538	16715	21	G	A	A	38	38	TMEM50B	A	1	1
DNAJC28	54943	broad.mit.edu	36	21	33782730	33782730	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33782730G>A	uc002yrv.1	-	c.841C>T	c.(841-843)CTT>TTT	p.L281F	DNAJC28_uc002yrw.1_Missense_Mutation_p.L281F|DNAJC28_uc010gmc.1_Missense_Mutation_p.L281F	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	281	Potential.						heat shock protein binding				0														0.485981	609.686371	609.757563	208	220	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33782730	33782730	4829	21	G	A	A	36	36	DNAJC28	A	2	2
DNAJC28	54943	broad.mit.edu	36	21	33783333	33783333	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33783333G>A	uc002yrv.1	-	c.238C>T	c.(238-240)CCT>TCT	p.P80S	DNAJC28_uc002yrw.1_Missense_Mutation_p.P80S|DNAJC28_uc010gmc.1_Missense_Mutation_p.P80S	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	80	J.						heat shock protein binding				0														0.180055	122.138318	156.911531	65	296	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33783333	33783333	4829	21	G	A	A	41	41	DNAJC28	A	2	2
DNAJC28	54943	broad.mit.edu	36	21	33783485	33783485	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33783485A>G	uc002yrv.1	-	c.86T>C	c.(85-87)CTT>CCT	p.L29P	DNAJC28_uc002yrw.1_Missense_Mutation_p.L29P|DNAJC28_uc010gmc.1_Missense_Mutation_p.L29P	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	29							heat shock protein binding				0														0.223404	174.179024	194.010321	63	219	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33783485	33783485	4829	21	A	G	G	3	3	DNAJC28	G	4	4
GART	2618	broad.mit.edu	36	21	33798426	33798426	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33798426C>T	uc002yrx.1	-	c.2908G>A	c.(2908-2910)GCA>ACA	p.A970T	GART_uc002yry.1_Missense_Mutation_p.A970T|GART_uc002yrz.1_Missense_Mutation_p.A970T|GART_uc010gmd.1_Missense_Mutation_p.A632T	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	970	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)									0.394161	145.213948	146.558964	54	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33798426	33798426	6507	21	C	T	T	27	27	GART	T	1	1
GART	2618	broad.mit.edu	36	21	33799852	33799852	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33799852G>A	uc002yrx.1	-	c.2611C>T	c.(2611-2613)CGT>TGT	p.R871C	GART_uc002yry.1_Missense_Mutation_p.R871C|GART_uc002yrz.1_Missense_Mutation_p.R871C|GART_uc010gmd.1_Missense_Mutation_p.R533C	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	871	GART.	10-formyltetrahydrofolate.			'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)									0.490385	149.416369	149.424852	51	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33799852	33799852	6507	21	G	A	A	37	37	GART	A	1	1
SON	6651	broad.mit.edu	36	21	33846246	33846246	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33846246G>T	uc002yse.1	+	c.2839G>T	c.(2839-2841)GAC>TAC	p.D947Y	SON_uc002ysb.1_Missense_Mutation_p.D947Y|SON_uc002ysc.1_Missense_Mutation_p.D947Y|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	947	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3														0.183486	69.06795	89.575087	40	178	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33846246	33846246	15426	21	G	T	T	33	33	SON	T	3	3
SON	6651	broad.mit.edu	36	21	33847827	33847827	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33847827C>A	uc002yse.1	+	c.4420C>A	c.(4420-4422)CTG>ATG	p.L1474M	SON_uc002ysb.1_Missense_Mutation_p.L1474M|SON_uc002ysc.1_Missense_Mutation_p.L1474M|SON_uc002ysd.2_Missense_Mutation_p.L465M|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.L465M	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1474					anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3														0.427273	135.811088	136.317323	47	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33847827	33847827	15426	21	C	A	A	20	20	SON	A	3	3
SON	6651	broad.mit.edu	36	21	33848620	33848620	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33848620T>G	uc002yse.1	+	c.5213T>G	c.(5212-5214)CTT>CGT	p.L1738R	SON_uc002ysb.1_Missense_Mutation_p.L1738R|SON_uc002ysc.1_Missense_Mutation_p.L1738R|SON_uc002ysd.2_Missense_Mutation_p.L729R|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.L729R	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1738					anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3														0.434243	523.037615	524.560955	175	228	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33848620	33848620	15426	21	T	G	G	56	56	SON	G	4	4
SON	6651	broad.mit.edu	36	21	33848880	33848880	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33848880C>T	uc002yse.1	+	c.5473C>T	c.(5473-5475)CGA>TGA	p.R1825*	SON_uc002ysb.1_Nonsense_Mutation_p.R1825*|SON_uc002ysc.1_Nonsense_Mutation_p.R1825*|SON_uc002ysd.2_Nonsense_Mutation_p.R816*|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Nonsense_Mutation_p.R816*	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1825					anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3														0.228261	90.354192	102.822056	42	142	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	33848880	33848880	15426	21	C	T	T	31	31	SON	T	5	1
SON	6651	broad.mit.edu	36	21	33849169	33849169	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33849169G>A	uc002yse.1	+	c.5762G>A	c.(5761-5763)CGA>CAA	p.R1921Q	SON_uc002ysb.1_Missense_Mutation_p.R1921Q|SON_uc002ysc.1_Missense_Mutation_p.R1921Q|SON_uc002ysd.2_Missense_Mutation_p.R912Q|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.R912Q	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1921					anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3														0.385321	114.839191	116.089974	42	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33849169	33849169	15426	21	G	A	A	37	37	SON	A	1	1
DONSON	29980	broad.mit.edu	36	21	33876353	33876353	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33876353A>G	uc002ysk.1	-	c.1034T>C	c.(1033-1035)TTG>TCG	p.L345S	DONSON_uc002ysi.1_Missense_Mutation_p.L105S|DONSON_uc002ysj.1_5'UTR|DONSON_uc010gme.1_Missense_Mutation_p.L318S|DONSON_uc002ysl.1_5'UTR|DONSON_uc002ysm.1_Missense_Mutation_p.L345S	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	345					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2														0.228155	117.929037	131.887426	47	159	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33876353	33876353	4890	21	A	G	G	5	5	DONSON	G	4	4
DONSON	29980	broad.mit.edu	36	21	33880337	33880337	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33880337G>A	uc002ysk.1	-	c.423C>T	c.(421-423)TCC>TCT	p.S141S	DONSON_uc002ysn.1_Silent_p.S24S|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.1_5'UTR|DONSON_uc010gme.1_Silent_p.S114S|DONSON_uc002ysl.1_Intron|DONSON_uc002ysm.1_Silent_p.S141S	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	141					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2												OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.464912	172.066609	172.188708	53	61	GG		KEEP	---	---	---	---	capture			Silent	SNP	33880337	33880337	4890	21	G	A	A	39	39	DONSON	A	1	1
CRYZL1	9946	broad.mit.edu	36	21	33896517	33896517	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33896517A>C	uc010gmf.1	-	c.470T>G	c.(469-471)TTT>TGT	p.F157C	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.F181C|CRYZL1_uc002yss.1_Non-coding_Transcript|CRYZL1_uc002yst.1_Non-coding_Transcript	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	157					oxidation-reduction process|quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0														0.196078	75.254052	88.442011	30	123	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33896517	33896517	4062	21	A	C	C	1	1	CRYZL1	C	4	4
ITSN1	6453	broad.mit.edu	36	21	34176528	34176528	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:34176528G>A	uc002yta.1	+	c.4453G>A	c.(4453-4455)GAC>AAC	p.D1485N	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.D1480N|ITSN1_uc002ytj.2_Missense_Mutation_p.D1424N|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002ytk.1_Intron|ITSN1_uc010gmn.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1485	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)	3														0.15493	33.668175	49.819758	22	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34176528	34176528	8230	21	G	A	A	37	37	ITSN1	A	1	1
KCNE1	3753	broad.mit.edu	36	21	34743479	34743479	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:34743479G>A	uc010gmp.1	-	c.324C>T	c.(322-324)GTC>GTT	p.V108V	KCNE1_uc002ytz.1_Silent_p.V108V|KCNE1_uc010gmq.1_Silent_p.V108V|KCNE1_uc010gmr.1_Silent_p.V108V|KCNE1_uc002yua.1_Non-coding_Transcript|KCNE1_uc010gms.1_Silent_p.V108V	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related	108	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|regulation of heart contraction|sensory perception of sound	lysosome|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(2)	2					Indapamide(DB00808)									0.463333	392.388084	392.739156	139	161	GG		KEEP	---	---	---	---	capture			Silent	SNP	34743479	34743479	8326	21	G	A	A	37	37	KCNE1	A	1	1
CLIC6	54102	broad.mit.edu	36	21	35003542	35003542	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:35003542C>T	uc010gmt.1	+	c.1789C>T	c.(1789-1791)CTG>TTG	p.L597L	CLIC6_uc002yuf.1_Silent_p.L579L	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	597	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2														0.211538	95.37636	111.388999	44	164	CC		KEEP	---	---	---	---	capture			Silent	SNP	35003542	35003542	3668	21	C	T	T	28	28	CLIC6	T	2	2
RUNX1	861	broad.mit.edu	36	21	35093511	35093511	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:35093511G>A	uc010gmu.1	-	c.924C>T	c.(922-924)AGC>AGT	p.S308S	RUNX1_uc002yuh.1_Silent_p.S281S|RUNX1_uc002yui.1_Silent_p.S217S|RUNX1_uc010gmv.1_Silent_p.S308S|RUNX1_uc002yuj.2_Silent_p.S176S|RUNX1_uc002yuk.2_Silent_p.S308S|RUNX1_uc002yul.1_Silent_p.S73S|RUNX1_uc002yum.1_Silent_p.S112S	NM_001754	NP_001745	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	281	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding	p.L112P(1)|p.L112fs*11(1)|p.S308fs*307(1)		haematopoietic_and_lymphoid_tissue(366)|lung(1)|central_nervous_system(1)	368										90				0.246512	115.062335	127.648059	53	162	GG		KEEP	---	---	---	---	capture			Silent	SNP	35093511	35093511	14226	21	G	A	A	38	38	RUNX1	A	1	1
DOPEY2	9980	broad.mit.edu	36	21	36571231	36571231	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:36571231C>T	uc002yvg.1	+	c.5675C>T	c.(5674-5676)TCG>TTG	p.S1892L		NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1892					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2														0.191304	84.079432	104.553842	44	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36571231	36571231	4892	21	C	T	T	31	31	DOPEY2	T	1	1
SIM2	6493	broad.mit.edu	36	21	37025261	37025261	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37025261G>T	uc002yvr.1	+	c.789G>T	c.(787-789)AAG>AAT	p.K263N	SIM2_uc002yvq.1_Missense_Mutation_p.K263N	NM_005069	NP_005060	Q14190	SIM2_HUMAN	single-minded homolog 2 long isoform	263	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1														0.405594	141.805389	142.922081	58	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37025261	37025261	14819	21	G	T	T	33	33	SIM2	T	3	3
HLCS	3141	broad.mit.edu	36	21	37048564	37048564	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37048564G>A	uc010gnb.1	-	c.2034C>T	c.(2032-2034)AGC>AGT	p.S678S	HLCS_uc002yvs.1_Silent_p.S678S	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	678					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)									0.238806	34.865676	39.041394	16	51	GG		KEEP	---	---	---	---	capture			Silent	SNP	37048564	37048564	7504	21	G	A	A	38	38	HLCS	A	1	1
HLCS	3141	broad.mit.edu	36	21	37191210	37191210	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37191210G>T	uc010gnb.1	-	c.1271C>A	c.(1270-1272)TCA>TAA	p.S424*	HLCS_uc002yvs.1_Nonsense_Mutation_p.S424*	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	424					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)									0.156522	52.240533	78.167728	36	194	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	37191210	37191210	7504	21	G	T	T	45	45	HLCS	T	5	3
TTC3	7267	broad.mit.edu	36	21	37438782	37438782	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37438782G>T	uc002yvz.1	+	c.1860G>T	c.(1858-1860)GTG>GTT	p.V620V	TTC3_uc002ywa.1_Silent_p.V620V|TTC3_uc002ywb.1_Silent_p.V620V|TTC3_uc010gnf.1_Silent_p.V385V|TTC3_uc002ywc.1_Silent_p.V310V|TTC3_uc010gne.1_Silent_p.V620V	NM_001001894	NP_003307	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	620					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|breast(1)	3		Myeloproliferative disorder(46;0.0412)				Ovarian(38;194 1649 35661)								0.397306	301.868994	304.612389	118	179	GG		KEEP	---	---	---	---	capture			Silent	SNP	37438782	37438782	17252	21	G	T	T	45	45	TTC3	T	3	3
TTC3	7267	broad.mit.edu	36	21	37447163	37447163	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37447163G>A	uc002yvz.1	+	c.2456G>A	c.(2455-2457)AGA>AAA	p.R819K	TTC3_uc002ywa.1_Missense_Mutation_p.R819K|TTC3_uc002ywb.1_Missense_Mutation_p.R819K|TTC3_uc010gnf.1_Missense_Mutation_p.R584K|TTC3_uc002ywc.1_Missense_Mutation_p.R509K	NM_001001894	NP_003307	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	819					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|breast(1)	3		Myeloproliferative disorder(46;0.0412)				Ovarian(38;194 1649 35661)								0.173913	49.109083	62.96413	24	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37447163	37447163	17252	21	G	A	A	33	33	TTC3	A	2	2
TTC3	7267	broad.mit.edu	36	21	37458228	37458228	+	Missense_Mutation	SNP	G	A	A	rs1133018	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37458228G>A	uc002yvz.1	+	c.3176G>A	c.(3175-3177)CGA>CAA	p.R1059Q	TTC3_uc002ywa.1_Missense_Mutation_p.R1059Q|TTC3_uc002ywb.1_Missense_Mutation_p.R1059Q|TTC3_uc010gnf.1_Missense_Mutation_p.R824Q|TTC3_uc002ywc.1_Missense_Mutation_p.R749Q|TTC3_uc002ywd.1_Missense_Mutation_p.R123Q	NM_001001894	NP_003307	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1059					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|breast(1)	3		Myeloproliferative disorder(46;0.0412)				Ovarian(38;194 1649 35661)								0.150407	56.319463	85.136048	37	209	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37458228	37458228	17252	21	G	A	A	37	37	TTC3	A	1	1
DSCR3	10311	broad.mit.edu	36	21	37534684	37534684	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37534684A>C	uc002ywf.1	-	c.184T>G	c.(184-186)TTT>GTT	p.F62V	DSCR3_uc010gnl.1_Missense_Mutation_p.F20V|DSCR3_uc010gnm.1_Non-coding_Transcript|DSCR3_uc010gnn.1_Missense_Mutation_p.F20V	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	62					vacuolar transport	nucleus|retromer complex					0														0.203125	66.410341	76.860001	26	102	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37534684	37534684	4955	21	A	C	C	1	1	DSCR3	C	4	4
DYRK1A	1859	broad.mit.edu	36	21	37774858	37774858	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37774858G>T	uc002ywk.1	+	c.376G>T	c.(376-378)GAT>TAT	p.D126Y	DYRK1A_uc002ywh.1_Missense_Mutation_p.D88Y|DYRK1A_uc002ywi.1_Missense_Mutation_p.D126Y|DYRK1A_uc002ywj.1_Missense_Mutation_p.D117Y|DYRK1A_uc002ywm.1_Missense_Mutation_p.D126Y|DYRK1A_uc002ywl.1_Missense_Mutation_p.D126Y	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	126	Bipartite nuclear localization signal (Potential).				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(1)	1						Melanoma(114;464 1602 31203 43785 45765)				141				0.403141	222.328781	223.89718	77	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37774858	37774858	5040	21	G	T	T	37	37	DYRK1A	T	3	3
DYRK1A	1859	broad.mit.edu	36	21	37806087	37806087	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37806087C>T	uc002ywk.1	+	c.1675C>T	c.(1675-1677)CGT>TGT	p.R559C	DYRK1A_uc002ywi.1_3'UTR|DYRK1A_uc002ywj.1_Missense_Mutation_p.R550C|DYRK1A_uc002ywm.1_Missense_Mutation_p.A517V|DYRK1A_uc002ywl.1_3'UTR	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	559					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(1)	1						Melanoma(114;464 1602 31203 43785 45765)			p.R559C(LS180-Tumor)|p.R559C(SNUC2A-Tumor)	141				0.210191	63.995216	76.197995	33	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37806087	37806087	5040	21	C	T	T	27	27	DYRK1A	T	1	1
KCNJ6	3763	broad.mit.edu	36	21	38008552	38008552	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:38008552T>C	uc002ywo.1	-	c.778A>G	c.(778-780)ATC>GTC	p.I260V		NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	260	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding				0					Halothane(DB01159)	Pancreas(48;379 1118 2936 19024 28214)								0.190939	146.218086	173.745855	59	250	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38008552	38008552	8360	21	T	C	C	49	49	KCNJ6	C	4	4
KCNJ15	3772	broad.mit.edu	36	21	38593339	38593339	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:38593339G>T	uc002ywv.1	+	c.286G>T	c.(286-288)GAA>TAA	p.E96*	KCNJ15_uc002yww.1_Nonsense_Mutation_p.E96*|KCNJ15_uc002ywx.1_Nonsense_Mutation_p.E96*|KCNJ15_uc010gnu.1_Nonsense_Mutation_p.E96*	NM_002243	NP_733933	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	96	Extracellular (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4														0.326241	224.982163	232.546303	92	190	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	38593339	38593339	8354	21	G	T	T	33	33	KCNJ15	T	5	3
KCNJ15	3772	broad.mit.edu	36	21	38593787	38593787	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:38593787G>A	uc002ywv.1	+	c.734G>A	c.(733-735)AGC>AAC	p.S245N	KCNJ15_uc002yww.1_Missense_Mutation_p.S245N|KCNJ15_uc002ywx.1_Missense_Mutation_p.S245N|KCNJ15_uc010gnu.1_Missense_Mutation_p.S245N	NM_002243	NP_733933	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	245	Cytoplasmic (By similarity).			S -> G (in Ref. 3; BAA13326).	synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4														0.493056	211.211073	211.217172	71	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38593787	38593787	8354	21	G	A	A	34	34	KCNJ15	A	2	2
KCNJ15	3772	broad.mit.edu	36	21	38594107	38594107	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:38594107G>A	uc002ywv.1	+	c.1054G>A	c.(1054-1056)GAG>AAG	p.E352K	KCNJ15_uc002yww.1_Missense_Mutation_p.E352K|KCNJ15_uc002ywx.1_Missense_Mutation_p.E352K|KCNJ15_uc010gnu.1_Missense_Mutation_p.E352K	NM_002243	NP_733933	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	352	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4														0.229167	70.691547	80.387244	33	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38594107	38594107	8354	21	G	A	A	37	37	KCNJ15	A	1	1
ERG	2078	broad.mit.edu	36	21	38739215	38739215	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:38739215C>T	uc010gnw.1	-	c.239G>A	c.(238-240)AGC>AAC	p.S80N	ERG_uc002ywz.1_Missense_Mutation_p.S80N|ERG_uc010gnv.1_Intron|ERG_uc010gnx.1_Missense_Mutation_p.S80N|ERG_uc002yxb.1_Missense_Mutation_p.S80N|ERG_uc002yxc.2_Missense_Mutation_p.S80N|ERG_uc002yxa.1_Missense_Mutation_p.S73N	NM_182918	NP_891548	P11308	ERG_HUMAN	ets-related isoform 1	80					cell proliferation|multicellular organismal development|protein phosphorylation|regulation of transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2058)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2058)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|ovary(1)	2386		Prostate(19;3.6e-06)				Esophageal Squamous(130;336 1700 3010 3083 40589)				177				0.226415	51.73887	59.029311	24	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38739215	38739215	5415	21	C	T	T	28	28	ERG	T	2	2
PSMG1	8624	broad.mit.edu	36	21	39472380	39472380	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:39472380C>T	uc002yxi.1	-	c.520G>A	c.(520-522)GAT>AAT	p.D174N	PSMG1_uc002yxj.1_Missense_Mutation_p.D153N|PSMG1_uc010gob.1_Missense_Mutation_p.D87N	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	174					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)												0.2287	109.813393	124.869902	51	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39472380	39472380	13164	21	C	T	T	31	31	PSMG1	T	1	1
BRWD1	54014	broad.mit.edu	36	21	39530539	39530539	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:39530539C>T	uc002yxk.1	-	c.2618G>A	c.(2617-2619)GGC>GAC	p.G873D	BRWD1_uc002yxl.1_Missense_Mutation_p.G873D|BRWD1_uc010goc.1_5'UTR|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_Missense_Mutation_p.G326D|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.G549D	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				Melanoma(170;988 1986 4794 16843 39731)								0.225	58.19398	66.510856	27	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39530539	39530539	1556	21	C	T	T	26	26	BRWD1	T	2	2
BRWD1	54014	broad.mit.edu	36	21	39558433	39558433	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:39558433C>A	uc002yxk.1	-	c.1708G>T	c.(1708-1710)GAT>TAT	p.D570Y	BRWD1_uc002yxl.1_Missense_Mutation_p.D570Y|BRWD1_uc010goc.1_5'UTR|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.D23Y|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.D290Y	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				Melanoma(170;988 1986 4794 16843 39731)								0.1875	21.056326	26.915713	12	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39558433	39558433	1556	21	C	A	A	32	32	BRWD1	A	3	3
BRWD1	54014	broad.mit.edu	36	21	39568251	39568251	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:39568251C>A	uc002yxk.1	-	c.1163G>T	c.(1162-1164)AGA>ATA	p.R388I	BRWD1_uc002yxl.1_Missense_Mutation_p.R388I|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.R108I	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	388	WD 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				Melanoma(170;988 1986 4794 16843 39731)								0.180905	59.758959	78.832853	36	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39568251	39568251	1556	21	C	A	A	32	32	BRWD1	A	3	3
HMGN1	3150	broad.mit.edu	36	21	39639007	39639007	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:39639007C>T	uc002yxo.1	-	c.190G>A	c.(190-192)GAA>AAA	p.E64K	HMGN1_uc002yxp.1_Silent_p.P27P|HMGN1_uc002yxq.1_Silent_p.P27P|HMGN1_uc002yxr.1_Non-coding_Transcript	NM_004965	NP_004956	P05114	HMGN1_HUMAN	high-mobility group nucleosome binding domain 1	64						chromatin|cytoplasm|nucleus	DNA binding|positive transcription elongation factor activity|RNA polymerase II transcription factor activity				0		Prostate(19;8.69e-07)												0.198582	54.117985	66.047239	28	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39639007	39639007	7525	21	C	T	T	31	31	HMGN1	T	1	1
WRB	7485	broad.mit.edu	36	21	39687019	39687019	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:39687019C>T	uc002yxs.1	+	c.394C>T	c.(394-396)CCG>TCG	p.P132S	WRB_uc010goj.1_Non-coding_Transcript|WRB_uc002yxt.2_Missense_Mutation_p.P98S	NM_004627	NP_004618	O00258	WRB_HUMAN	tryptophan rich basic protein	132						integral to membrane|nucleolus					0		Prostate(19;1.2e-06)												0.223776	68.32411	78.287099	32	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39687019	39687019	17975	21	C	T	T	26	26	WRB	T	2	2
LCA5L	150082	broad.mit.edu	36	21	39714598	39714598	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:39714598G>A	uc002yxu.1	-	c.879C>T	c.(877-879)AGC>AGT	p.S293S	LCA5L_uc002yxv.1_Silent_p.S293S	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	293											0		Prostate(19;1.2e-06)												0.169231	37.062102	50.535335	22	108	GG		KEEP	---	---	---	---	capture			Silent	SNP	39714598	39714598	8980	21	G	A	A	42	42	LCA5L	A	2	2
B3GALT5	10317	broad.mit.edu	36	21	39954747	39954747	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:39954747C>A	uc002yyb.1	+	c.391C>A	c.(391-393)CTG>ATG	p.L131M	B3GALT5_uc002yye.2_Missense_Mutation_p.L131M|B3GALT5_uc002yyi.1_Missense_Mutation_p.L131M|B3GALT5_uc002yyj.1_Missense_Mutation_p.L131M|B3GALT5_uc002yyk.1_Missense_Mutation_p.L131M|B3GALT5_uc002yyl.1_Missense_Mutation_p.L131M|B3GALT5_uc002yym.1_Missense_Mutation_p.L131M|B3GALT5_uc010gon.1_Missense_Mutation_p.L131M	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	131	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity				0		Prostate(19;2.55e-06)												0.223464	80.388669	92.990988	40	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39954747	39954747	1271	21	C	A	A	32	32	B3GALT5	A	3	3
PCP4	5121	broad.mit.edu	36	21	40222882	40222882	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:40222882G>T	uc002yyp.1	+	c.165G>T	c.(163-165)AAG>AAT	p.K55N		NM_006198	NP_006189	P48539	PCP4_HUMAN	Purkinje cell protein 4	55	IQ.				central nervous system development	cytosol|nucleus				large_intestine(1)	1		Prostate(19;2.65e-06)|all_epithelial(19;0.138)												0.4	147.573902	148.854007	58	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40222882	40222882	12018	21	G	T	T	33	33	PCP4	T	3	3
DSCAM	1826	broad.mit.edu	36	21	40307121	40307121	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:40307121C>A	uc002yyq.1	-	c.5749G>T	c.(5749-5751)GGC>TGC	p.G1917C	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1917	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.358209	124.35329	126.729614	48	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40307121	40307121	4952	21	C	A	A	24	24	DSCAM	A	3	3
DSCAM	1826	broad.mit.edu	36	21	40372506	40372506	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:40372506G>A	uc002yyq.1	-	c.4689C>T	c.(4687-4689)TTC>TTT	p.F1563F	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1563	Extracellular (Potential).|Fibronectin type-III 6.				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)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.196078	38.148336	46.927572	20	82	GG		KEEP	---	---	---	---	capture			Silent	SNP	40372506	40372506	4952	21	G	A	A	37	37	DSCAM	A	1	1
DSCAM	1826	broad.mit.edu	36	21	40480966	40480966	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:40480966G>T	uc002yyq.1	-	c.2741C>A	c.(2740-2742)CCC>CAC	p.P914H	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	914	Extracellular (Potential).|Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.247934	67.584194	74.584734	30	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40480966	40480966	4952	21	G	T	T	43	43	DSCAM	T	3	3
PLAC4	191585	broad.mit.edu	36	21	41473285	41473285	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:41473285T>C	uc002yyz.1	-	c.141A>G	c.(139-141)TCA>TCG	p.S47S	BACE2_uc002yyw.1_Intron|BACE2_uc002yyx.1_Intron|BACE2_uc002yyy.1_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	placenta-specific 4	47											0		Prostate(19;2.29e-06)												0.333333	23.395926	23.984378	8	16	TT		KEEP	---	---	---	---	capture			Silent	SNP	41473285	41473285	12440	21	T	C	C	59	59	PLAC4	C	4	4
BACE2	25825	broad.mit.edu	36	21	41535733	41535733	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:41535733G>A	uc002yyw.1	+	c.736G>A	c.(736-738)GGA>AGA	p.G246R	BACE2_uc002yyx.1_Missense_Mutation_p.G246R|BACE2_uc002yyy.1_Missense_Mutation_p.G246R	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	246	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)												0.410646	641.535302	645.192097	216	310	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41535733	41535733	1303	21	G	A	A	39	39	BACE2	A	1	1
MX2	4600	broad.mit.edu	36	21	41670741	41670741	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:41670741G>T	uc002yzf.1	+	c.38G>T	c.(37-39)AGA>ATA	p.R13I		NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	13					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)												0.24	139.494034	156.480486	66	209	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41670741	41670741	10392	21	G	T	T	33	33	MX2	T	3	3
MX1	4599	broad.mit.edu	36	21	41739304	41739304	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:41739304G>T	uc002yzh.1	+	c.1068G>T	c.(1066-1068)GAG>GAT	p.E356D	MX1_uc002yzi.1_Missense_Mutation_p.E356D|MX1_uc010goq.1_Missense_Mutation_p.E356D	NM_002462	NP_002453	P20591	MX1_HUMAN	myxovirus resistance protein 1	356					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)												0.207048	97.194849	115.2548	47	180	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41739304	41739304	10391	21	G	T	T	34	34	MX1	T	3	3
MX1	4599	broad.mit.edu	36	21	41746586	41746586	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:41746586G>A	uc002yzh.1	+	c.1678G>A	c.(1678-1680)GAT>AAT	p.D560N	MX1_uc002yzi.1_Missense_Mutation_p.D560N|MX1_uc010goq.1_Missense_Mutation_p.D560N	NM_002462	NP_002453	P20591	MX1_HUMAN	myxovirus resistance protein 1	560					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)												0.226449	283.909395	321.822796	125	427	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41746586	41746586	10391	21	G	A	A	41	41	MX1	A	2	2
TMPRSS2	7113	broad.mit.edu	36	21	41762227	41762227	+	Missense_Mutation	SNP	G	T	T	rs35579260	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:41762227G>T	uc010gor.1	-	c.1280C>A	c.(1279-1281)GCC>GAC	p.A427D	TMPRSS2_uc010gos.1_Missense_Mutation_p.A427D|TMPRSS2_uc002yzj.1_Missense_Mutation_p.A427D	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	427	Peptidase S1.|Extracellular (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2058)|TMPRSS2/ETV1(24)	prostate(2082)|central_nervous_system(1)	2083		Prostate(19;4.48e-07)|all_epithelial(19;0.031)								848				0.436242	181.983748	182.504434	65	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41762227	41762227	16788	21	G	T	T	42	42	TMPRSS2	T	3	3
PRDM15	63977	broad.mit.edu	36	21	42115390	42115390	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42115390C>T	uc002yzq.1	-	c.2932G>A	c.(2932-2934)GAT>AAT	p.D978N	PRDM15_uc002yzo.1_Missense_Mutation_p.D649N|PRDM15_uc002yzp.1_Missense_Mutation_p.D669N|PRDM15_uc002yzr.1_Missense_Mutation_p.D669N	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	978					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.478261	343.551963	343.655717	121	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42115390	42115390	12898	21	C	T	T	31	31	PRDM15	T	1	1
PRDM15	63977	broad.mit.edu	36	21	42132872	42132872	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42132872C>T	uc002yzq.1	-	c.1898G>A	c.(1897-1899)CGA>CAA	p.R633Q	PRDM15_uc002yzo.1_Missense_Mutation_p.R304Q|PRDM15_uc002yzp.1_Missense_Mutation_p.R304Q|PRDM15_uc002yzr.1_Missense_Mutation_p.R304Q	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.235099	313.955179	352.721062	142	462	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42132872	42132872	12898	21	C	T	T	31	31	PRDM15	T	1	1
PRDM15	63977	broad.mit.edu	36	21	42164709	42164709	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42164709C>T	uc002yzq.1	-	c.504G>A	c.(502-504)GCG>GCA	p.A168A	PRDM15_uc002yzo.1_Intron|PRDM15_uc002yzp.1_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.25	103.762098	114.217777	46	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	42164709	42164709	12898	21	C	T	T	31	31	PRDM15	T	1	1
PRDM15	63977	broad.mit.edu	36	21	42171878	42171878	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42171878C>A	uc002yzq.1	-	c.408G>T	c.(406-408)GAG>GAT	p.E136D	PRDM15_uc002yzo.1_Intron|PRDM15_uc002yzp.1_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.131579	7.94757	12.960931	5	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42171878	42171878	12898	21	C	A	A	20	20	PRDM15	A	3	3
ABCG1	9619	broad.mit.edu	36	21	42587790	42587790	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42587790G>A	uc002zaq.1	+	c.1759G>A	c.(1759-1761)GAC>AAC	p.D587N	ABCG1_uc002zan.1_Missense_Mutation_p.D577N|ABCG1_uc002zam.1_Missense_Mutation_p.D553N|ABCG1_uc002zao.1_Missense_Mutation_p.D572N|ABCG1_uc002zap.1_Missense_Mutation_p.D575N|ABCG1_uc002zar.1_Missense_Mutation_p.D586N|ABCG1_uc010gpb.1_Missense_Mutation_p.D197N	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	587	ABC transmembrane type-2.|Extracellular (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|integral to plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid binding|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)	2					Adenosine triphosphate(DB00171)									0.22449	68.463095	78.675795	33	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42587790	42587790	69	21	G	A	A	37	37	ABCG1	A	1	1
TMPRSS3	64699	broad.mit.edu	36	21	42677170	42677170	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42677170G>A	uc002zbb.1	-	c.594C>T	c.(592-594)CAC>CAT	p.H198H	TMPRSS3_uc002zay.1_5'Flank|TMPRSS3_uc002zaz.1_Silent_p.H71H|TMPRSS3_uc002zba.1_Silent_p.H71H|TMPRSS3_uc002zbc.1_Silent_p.H198H|TMPRSS3_uc002zbd.1_Silent_p.H198H	NM_024022	NP_115780	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	198	SRCR.|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														0.424779	132.177932	132.736099	48	65	GG		KEEP	---	---	---	---	capture			Silent	SNP	42677170	42677170	16789	21	G	A	A	40	40	TMPRSS3	A	1	1
UBASH3A	53347	broad.mit.edu	36	21	42702658	42702658	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42702658C>A	uc002zbe.1	+	c.226C>A	c.(226-228)CTT>ATT	p.L76I	UBASH3A_uc002zbf.1_Missense_Mutation_p.L76I|UBASH3A_uc010gpc.1_Non-coding_Transcript|UBASH3A_uc010gpd.1_Non-coding_Transcript|UBASH3A_uc010gpe.1_Missense_Mutation_p.L76I	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	76						cytosol|nucleus				ovary(3)	3														0.278195	171.600039	183.401772	74	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42702658	42702658	17396	21	C	A	A	24	24	UBASH3A	A	3	3
UBASH3A	53347	broad.mit.edu	36	21	42711711	42711711	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42711711C>T	uc002zbe.1	+	c.970C>T	c.(970-972)CGG>TGG	p.R324W	UBASH3A_uc002zbf.1_Missense_Mutation_p.R286W|UBASH3A_uc010gpc.1_Non-coding_Transcript|UBASH3A_uc010gpd.1_Non-coding_Transcript|UBASH3A_uc010gpe.1_Missense_Mutation_p.R286W	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	324	SH3.					cytosol|nucleus				ovary(3)	3														0.210526	46.990494	55.791996	24	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42711711	42711711	17396	21	C	T	T	27	27	UBASH3A	T	1	1
RSPH1	89765	broad.mit.edu	36	21	42779613	42779613	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42779613C>T	uc002zbg.1	-	c.302G>A	c.(301-303)GGC>GAC	p.G101D		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	101	MORN 4.				meiosis	cytosol|nucleus				ovary(1)	1						Esophageal Squamous(23;63 706 6286 10288 12913)								0.238298	130.987699	145.685742	56	179	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42779613	42779613	14182	21	C	T	T	26	26	RSPH1	T	2	2
SLC37A1	54020	broad.mit.edu	36	21	42827947	42827947	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42827947C>T	uc002zbi.1	+	c.209C>T	c.(208-210)TCT>TTT	p.S70F	SLC37A1_uc002zbj.1_Missense_Mutation_p.S70F	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	70					carbohydrate transport|transmembrane transport	integral to membrane					0														0.19863	61.287293	73.635911	29	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42827947	42827947	15094	21	C	T	T	32	32	SLC37A1	T	2	2
PDE9A	5152	broad.mit.edu	36	21	43062305	43062305	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:43062305C>A	uc002zbm.1	+	c.1561C>A	c.(1561-1563)CTG>ATG	p.L521M	PDE9A_uc002zbn.1_Missense_Mutation_p.L394M|PDE9A_uc002zbo.1_Missense_Mutation_p.L468M|PDE9A_uc002zbp.1_Missense_Mutation_p.L314M|PDE9A_uc002zbq.1_Missense_Mutation_p.L419M|PDE9A_uc002zbs.1_Missense_Mutation_p.L314M|PDE9A_uc002zbr.1_Missense_Mutation_p.L314M|PDE9A_uc002zbt.1_Missense_Mutation_p.L393M|PDE9A_uc002zbu.1_Missense_Mutation_p.L387M|PDE9A_uc002zbv.1_Missense_Mutation_p.L361M|PDE9A_uc002zbw.1_Missense_Mutation_p.L304M|PDE9A_uc002zbx.1_Missense_Mutation_p.L461M|PDE9A_uc002zby.1_Missense_Mutation_p.L304M|PDE9A_uc002zbz.1_Missense_Mutation_p.L413M|PDE9A_uc002zca.1_Missense_Mutation_p.L480M|PDE9A_uc002zcb.1_Missense_Mutation_p.L495M|PDE9A_uc002zcc.1_Missense_Mutation_p.L420M|PDE9A_uc002zcd.1_Missense_Mutation_p.L435M|PDE9A_uc002zce.1_Missense_Mutation_p.L454M|PDE9A_uc002zcf.1_Missense_Mutation_p.L314M|PDE9A_uc002zcg.1_Missense_Mutation_p.L314M|PDE9A_uc002zch.1_Missense_Mutation_p.L304M	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	521	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding				0														0.189655	40.874442	51.332364	22	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43062305	43062305	12076	21	C	A	A	24	24	PDE9A	A	3	3
NDUFV3	4731	broad.mit.edu	36	21	43196641	43196641	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:43196641G>A	uc002zcm.1	+	c.450G>A	c.(448-450)TCG>TCA	p.S150S	NDUFV3_uc002zcn.1_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	NADH-ubiquinone oxidoreductase flavoprotein 3	Error:Variant_position_missing_in_P56181_after_alignment					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			ovary(2)	2					NADH(DB00157)									0.486936	545.862771	545.92279	205	216	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(101;0.0606)	Silent	SNP	43196641	43196641	10700	21	G	A	A	38	38	NDUFV3	A	1	1
CBS	875	broad.mit.edu	36	21	43361716	43361716	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:43361716C>T	uc002zct.1	-	c.288G>A	c.(286-288)GGG>GGA	p.G96G	CBS_uc002zcs.1_5'Flank|CBS_uc002zcu.1_Silent_p.G96G|CBS_uc002zcv.1_Silent_p.G96G|CBS_uc002zcw.2_Silent_p.G96G	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	96					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)									0.193833	86.654456	106.526637	44	183	CC		KEEP	---	---	---	---	capture			Silent	SNP	43361716	43361716	2830	21	C	T	T	30	30	CBS	T	2	2
CRYAA	1409	broad.mit.edu	36	21	43462362	43462362	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:43462362C>T	uc002zdd.1	+	c.84C>T	c.(82-84)GGC>GGT	p.G28G		NM_000394	NP_000385	P02489	CRYAA_HUMAN	crystallin, alpha A	28					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			breast(1)|central_nervous_system(1)	2														0.489552	451.055724	451.088067	164	171	CC		KEEP	---	---	---	---	capture			Silent	SNP	43462362	43462362	4044	21	C	T	T	27	27	CRYAA	T	1	1
SIK1	150094	broad.mit.edu	36	21	43666068	43666068	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:43666068G>A	uc002zdf.1	-	c.377C>T	c.(376-378)GCG>GTG	p.A126V		NM_173354	NP_775490	P57059	SIK1_HUMAN	SNF1-like kinase	126	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|protein phosphorylation|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7										671				0.204082	16.93043	20.913946	10	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43666068	43666068	14812	21	G	A	A	38	38	SIK1	A	1	1
HSF2BP	11077	broad.mit.edu	36	21	43774132	43774132	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:43774132C>T	uc002zdi.1	-	c.935G>A	c.(934-936)CGC>CAC	p.R312H		NM_007031	NP_008962	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding	312					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding				0														0.401042	197.867903	199.499668	77	115	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(101;0.18)	Missense_Mutation	SNP	43774132	43774132	7692	21	C	T	T	27	27	HSF2BP	T	1	1
RRP1B	23076	broad.mit.edu	36	21	43934647	43934647	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:43934647G>T	uc002zdk.1	+	c.1917G>T	c.(1915-1917)GAG>GAT	p.E639D	RRP1B_uc002zdl.1_Missense_Mutation_p.E172D	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	639					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding				0														0.184358	53.839912	70.614021	33	146	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(101;0.178)	Missense_Mutation	SNP	43934647	43934647	14168	21	G	T	T	33	33	RRP1B	T	3	3
PDXK	8566	broad.mit.edu	36	21	43990419	43990419	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:43990419C>T	uc002zdm.2	+	c.363C>T	c.(361-363)GAC>GAT	p.D121D	PDXK_uc010gpj.1_Silent_p.D121D|PDXK_uc002zdn.2_Silent_p.D93D|PDXK_uc002zdq.2_Silent_p.D48D	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	121					cell proliferation|pyridoxal phosphate biosynthetic process|pyridoxine biosynthetic process	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0					Pyridoxal(DB00147)|Pyridoxine(DB00165)									0.171171	29.386897	40.72048	19	92	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Silent	SNP	43990419	43990419	12118	21	C	T	T	19	19	PDXK	T	1	1
AGPAT3	56894	broad.mit.edu	36	21	44226642	44226642	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44226642G>T	uc002zdx.1	+	c.1333G>T	c.(1333-1335)GTA>TTA	p.V445L	AGPAT3_uc002zdv.1_Missense_Mutation_p.V358L|AGPAT3_uc002zdw.1_Missense_Mutation_p.V358L|AGPAT3_uc002zdy.1_Missense_Mutation_p.V296L	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	358	Cytoplasmic (Potential).			VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067).	phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0						Pancreas(60;623 1650 5574 52796)								0.437647	555.349165	556.794821	186	239	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	Missense_Mutation	SNP	44226642	44226642	391	21	G	T	T	36	36	AGPAT3	T	3	3
TRAPPC10	7109	broad.mit.edu	36	21	44282119	44282119	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44282119G>A	uc002zea.1	+	c.168G>A	c.(166-168)CCG>CCA	p.P56P	TRAPPC10_uc002zdz.2_Silent_p.P56P|TRAPPC10_uc010gpo.1_5'UTR	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	56					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2														0.445826	710.918775	712.359622	251	312	GG		KEEP	---	---	---	---	capture			Silent	SNP	44282119	44282119	17001	21	G	A	A	37	37	TRAPPC10	A	1	1
TRAPPC10	7109	broad.mit.edu	36	21	44307885	44307885	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44307885A>C	uc002zea.1	+	c.829A>C	c.(829-831)AAG>CAG	p.K277Q	TRAPPC10_uc010gpo.1_5'UTR	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	277					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2														0.223077	154.765739	173.060701	58	202	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44307885	44307885	17001	21	A	C	C	9	9	TRAPPC10	C	4	4
TRAPPC10	7109	broad.mit.edu	36	21	44319405	44319405	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44319405G>A	uc002zea.1	+	c.1243G>A	c.(1243-1245)GAT>AAT	p.D415N	TRAPPC10_uc010gpo.1_Missense_Mutation_p.D126N	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	415					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2														0.384146	184.881564	186.813151	63	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44319405	44319405	17001	21	G	A	A	33	33	TRAPPC10	A	2	2
TRAPPC10	7109	broad.mit.edu	36	21	44324380	44324380	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44324380G>A	uc002zea.1	+	c.1667G>A	c.(1666-1668)CGC>CAC	p.R556H	TRAPPC10_uc010gpo.1_Missense_Mutation_p.R267H	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	556					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2														0.337079	74.329078	76.415378	30	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44324380	44324380	17001	21	G	A	A	38	38	TRAPPC10	A	1	1
TRAPPC10	7109	broad.mit.edu	36	21	44336234	44336234	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44336234A>C	uc002zea.1	+	c.2873A>C	c.(2872-2874)AAA>ACA	p.K958T	TRAPPC10_uc010gpo.1_Missense_Mutation_p.K669T	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	958					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2														0.554113	427.611597	428.199181	128	103	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44336234	44336234	17001	21	A	C	C	1	1	TRAPPC10	C	4	4
TRAPPC10	7109	broad.mit.edu	36	21	44338531	44338531	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44338531G>A	uc002zea.1	+	c.3157G>A	c.(3157-3159)GAA>AAA	p.E1053K	TRAPPC10_uc010gpo.1_Missense_Mutation_p.E764K	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1053					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2														0.189723	94.555554	117.335255	48	205	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44338531	44338531	17001	21	G	A	A	41	41	TRAPPC10	A	2	2
C21orf33	8209	broad.mit.edu	36	21	44378457	44378457	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44378457G>A	uc002zec.2	+	c.187G>A	c.(187-189)GCC>ACC	p.A63T	C21orf33_uc002zed.2_Missense_Mutation_p.A63T	NM_004649	NP_004640	P30042	ES1_HUMAN	es1 protein isoform Ia precursor	63						mitochondrion				ovary(1)	1														0.240741	25.84615	29.161988	13	41	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)	Missense_Mutation	SNP	44378457	44378457	2205	21	G	A	A	42	42	C21orf33	A	2	2
ICOSLG	23308	broad.mit.edu	36	21	44475649	44475649	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44475649G>A	uc010gpp.1	-	c.804C>T	c.(802-804)GTC>GTT	p.V268V	ICOSLG_uc002zee.1_Silent_p.V268V|ICOSLG_uc002zef.1_Silent_p.V151V	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	268	Helical; (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0														0.207143	56.668352	67.746786	29	111	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	Silent	SNP	44475649	44475649	7787	21	G	A	A	37	37	ICOSLG	A	1	1
C21orf2	755	broad.mit.edu	36	21	44577449	44577449	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44577449G>A	uc002zeq.2	-	c.268C>T	c.(268-270)CGG>TGG	p.R90W	C21orf2_uc010gps.1_5'UTR|C21orf2_uc002zeo.1_Missense_Mutation_p.R49W|C21orf2_uc002zep.2_Missense_Mutation_p.R90W|C21orf2_uc002zer.2_Missense_Mutation_p.R90W	NM_004928	NP_004919	O43822	CU002_HUMAN	hypothetical protein LOC755	90											0														0.216216	15.881487	18.630302	8	29	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0806)	Missense_Mutation	SNP	44577449	44577449	2203	21	G	A	A	38	38	C21orf2	A	1	1
TRPM2	7226	broad.mit.edu	36	21	44598127	44598127	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44598127G>A	uc010gpt.1	+	c.116G>A	c.(115-117)AGC>AAC	p.S39N	TRPM2_uc002zet.1_Missense_Mutation_p.S39N|TRPM2_uc002zeu.1_Missense_Mutation_p.S39N|TRPM2_uc002zew.1_Missense_Mutation_p.S39N	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	39	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.54023	147.330049	147.452754	47	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44598127	44598127	17137	21	G	A	A	34	34	TRPM2	A	2	2
TRPM2	7226	broad.mit.edu	36	21	44611129	44611129	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44611129G>A	uc010gpt.1	+	c.488G>A	c.(487-489)GGG>GAG	p.G163E	TRPM2_uc002zet.1_Missense_Mutation_p.G163E|TRPM2_uc002zeu.1_Missense_Mutation_p.G163E|TRPM2_uc002zew.1_Missense_Mutation_p.G163E|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	163	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.228916	87.666957	98.854021	38	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44611129	44611129	17137	21	G	A	A	43	43	TRPM2	A	2	2
TRPM2	7226	broad.mit.edu	36	21	44627041	44627041	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44627041G>A	uc010gpt.1	+	c.1228G>A	c.(1228-1230)GTC>ATC	p.V410I	TRPM2_uc002zet.1_Missense_Mutation_p.V410I|TRPM2_uc002zeu.1_Missense_Mutation_p.V410I|TRPM2_uc002zew.1_Missense_Mutation_p.V410I|TRPM2_uc002zex.1_Missense_Mutation_p.V196I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	410	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.253968	36.568711	40.031498	16	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44627041	44627041	17137	21	G	A	A	40	40	TRPM2	A	1	1
TRPM2	7226	broad.mit.edu	36	21	44646107	44646107	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44646107T>C	uc010gpt.1	+	c.2437T>C	c.(2437-2439)TTC>CTC	p.F813L	TRPM2_uc002zet.1_Missense_Mutation_p.F813L|TRPM2_uc002zeu.1_Missense_Mutation_p.F813L|TRPM2_uc002zew.1_Missense_Mutation_p.F813L|TRPM2_uc002zex.1_Missense_Mutation_p.F599L|TRPM2_uc002zey.1_Missense_Mutation_p.F326L	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	813	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.45037	1003.772519	1005.209983	304	371	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44646107	44646107	17137	21	T	C	C	60	60	TRPM2	C	4	4
TRPM2	7226	broad.mit.edu	36	21	44658374	44658374	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44658374C>T	uc010gpt.1	+	c.3135C>T	c.(3133-3135)ATC>ATT	p.I1045I	TRPM2_uc002zet.1_Silent_p.I1045I|TRPM2_uc002zeu.1_Silent_p.I1045I|TRPM2_uc002zew.1_Silent_p.I1045I|TRPM2_uc002zex.1_Silent_p.I831I|TRPM2_uc002zey.1_Silent_p.I558I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1045	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.394415	604.89019	610.48851	226	347	CC		KEEP	---	---	---	---	capture			Silent	SNP	44658374	44658374	17137	21	C	T	T	31	31	TRPM2	T	1	1
C21orf29	54084	broad.mit.edu	36	21	44749163	44749163	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44749163C>T	uc002zfe.1	-	c.1784G>A	c.(1783-1785)GGA>GAA	p.G595E	C21orf29_uc010gpv.1_Missense_Mutation_p.G527E	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29	595	EAR 6.				cell adhesion	extracellular region	structural molecule activity				0														0.260355	98.504918	107.309962	44	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44749163	44749163	2204	21	C	T	T	30	30	C21orf29	T	2	2
KRTAP10-3	386682	broad.mit.edu	36	21	44802934	44802934	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44802934G>A	uc002zfj.1	-	c.93C>T	c.(91-93)TGC>TGT	p.C31C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	keratin associated protein 10-3	31	2.|18 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.211765	35.801816	42.336142	18	67	GG		KEEP	---	---	---	---	capture			Silent	SNP	44802934	44802934	8825	21	G	A	A	34	34	KRTAP10-3	A	2	2
KRTAP10-4	386672	broad.mit.edu	36	21	44818933	44818933	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44818933C>T	uc002zfk.1	+	c.870C>T	c.(868-870)TGC>TGT	p.C290C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	290	36 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.184713	107.250312	136.543357	58	256	CC		KEEP	---	---	---	---	capture			Silent	SNP	44818933	44818933	8826	21	C	T	T	28	28	KRTAP10-4	T	2	2
KRTAP10-7	386675	broad.mit.edu	36	21	44845884	44845884	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44845884C>T	uc002zfn.2	+	c.920C>T	c.(919-921)TCC>TTC	p.S307F	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	312	30 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.117647	19.240068	43.624572	20	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44845884	44845884	8829	21	C	T	T	30	30	KRTAP10-7	T	2	2
KRTAP10-8	386681	broad.mit.edu	36	21	44857086	44857086	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44857086G>A	uc002zfo.1	+	c.641G>A	c.(640-642)CGC>CAC	p.R214H	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	keratin associated protein 10-8	214	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|breast(1)	2														0.184314	69.994859	93.85175	47	208	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44857086	44857086	8830	21	G	A	A	38	38	KRTAP10-8	A	1	1
KRTAP12-2	353323	broad.mit.edu	36	21	44910878	44910878	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44910878C>T	uc002zfu.1	-	c.354G>A	c.(352-354)CCG>CCA	p.P118P	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	keratin associated protein 12-2	118	23 X 5 AA approximate repeats.					keratin filament					0														0.394495	104.201287	105.261025	43	66	CC		KEEP	---	---	---	---	capture			Silent	SNP	44910878	44910878	8834	21	C	T	T	19	19	KRTAP12-2	T	1	1
ITGB2	3689	broad.mit.edu	36	21	45136331	45136331	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45136331G>A	uc002zgd.1	-	c.1233C>T	c.(1231-1233)TTC>TTT	p.F411F	ITGB2_uc002zge.1_Silent_p.F411F|ITGB2_uc002zgf.2_Silent_p.F411F|ITGB2_uc010gpw.1_Silent_p.F354F|ITGB2_uc002zgg.1_Silent_p.F411F	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	411	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(2)	8					Simvastatin(DB00641)									0.128571	7.417479	16.848951	9	61	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0669)	Silent	SNP	45136331	45136331	8198	21	G	A	A	41	41	ITGB2	A	2	2
ITGB2	3689	broad.mit.edu	36	21	45145888	45145888	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45145888G>A	uc002zgd.1	-	c.688C>T	c.(688-690)CTG>TTG	p.L230L	ITGB2_uc002zge.1_Silent_p.L230L|ITGB2_uc002zgf.2_Silent_p.L230L|ITGB2_uc010gpw.1_Silent_p.L173L|ITGB2_uc002zgg.1_Silent_p.L230L	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	230	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(2)	8					Simvastatin(DB00641)									0.453846	172.19818	172.440687	59	71	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0669)	Silent	SNP	45145888	45145888	8198	21	G	A	A	35	35	ITGB2	A	2	2
ITGB2	3689	broad.mit.edu	36	21	45147753	45147753	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45147753C>T	uc002zgd.1	-	c.454G>A	c.(454-456)GAC>AAC	p.D152N	ITGB2_uc002zge.1_Missense_Mutation_p.D152N|ITGB2_uc002zgf.2_Missense_Mutation_p.D152N|ITGB2_uc010gpw.1_Intron|ITGB2_uc002zgg.1_Missense_Mutation_p.D152N	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	152	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(2)	8					Simvastatin(DB00641)									0.378995	220.162364	222.97856	83	136	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.0669)	Missense_Mutation	SNP	45147753	45147753	8198	21	C	T	T	31	31	ITGB2	T	1	1
ADARB1	104	broad.mit.edu	36	21	45465297	45465297	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45465297C>A	uc002zgq.1	+	c.1986C>A	c.(1984-1986)GGC>GGA	p.G662G	ADARB1_uc010gpx.1_Non-coding_Transcript|ADARB1_uc002zgr.1_Silent_p.G662G|ADARB1_uc002zgs.1_Silent_p.G650G|ADARB1_uc002zgt.1_Silent_p.G622G|ADARB1_uc002zgv.1_Non-coding_Transcript|ADARB1_uc002zgw.1_Silent_p.G622G|ADARB1_uc002zgu.1_Non-coding_Transcript|ADARB1_uc002zgy.1_Silent_p.G662G	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	662	A to I editase.				adenosine to inosine editing|base conversion or substitution editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding				0														0.410256	120.880898	121.67128	48	69	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.115)	Silent	SNP	45465297	45465297	283	21	C	A	A	26	26	ADARB1	A	3	3
COL18A1	80781	broad.mit.edu	36	21	45720699	45720699	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45720699G>A	uc002zhi.1	+	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T	COL18A1_uc002zhg.1_Missense_Mutation_p.A269T	NM_030582	NP_085059	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 1 precursor	684	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1										1836				0.266667	52.453973	56.823367	24	66	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	Missense_Mutation	SNP	45720699	45720699	3813	21	G	A	A	42	42	COL18A1	A	2	2
COL18A1	80781	broad.mit.edu	36	21	45749762	45749762	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45749762G>A	uc002zhi.1	+	c.3607G>A	c.(3607-3609)GCC>ACC	p.A1203T	COL18A1_uc002zhg.1_Missense_Mutation_p.A1023T|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.1_Missense_Mutation_p.A3T|COL18A1_uc002zhk.1_5'Flank	NM_030582	NP_085059	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 1 precursor	1441	Triple-helical region 10 (COL10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1										1836				0.411765	17.418956	17.535204	7	10	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	Missense_Mutation	SNP	45749762	45749762	3813	21	G	A	A	38	38	COL18A1	A	1	1
COL18A1	80781	broad.mit.edu	36	21	45750204	45750204	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45750204G>A	uc002zhi.1	+	c.3643G>A	c.(3643-3645)GCC>ACC	p.A1215T	COL18A1_uc002zhg.1_Missense_Mutation_p.A1035T|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.1_Missense_Mutation_p.A16T|COL18A1_uc002zhk.1_5'Flank	NM_030582	NP_085059	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 1 precursor	1453	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1										1836				0.441441	138.252935	138.585457	49	62	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	Missense_Mutation	SNP	45750204	45750204	3813	21	G	A	A	42	42	COL18A1	A	2	2
COL18A1	80781	broad.mit.edu	36	21	45754571	45754571	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45754571G>A	uc002zhi.1	+	c.4192G>A	c.(4192-4194)GAC>AAC	p.D1398N	COL18A1_uc002zhg.1_Missense_Mutation_p.D1218N|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.1_Missense_Mutation_p.D199N|COL18A1_uc002zhk.1_Missense_Mutation_p.D43N	NM_030582	NP_085059	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 1 precursor	1636	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1										1836				0.714286	29.086902	29.710041	10	4	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	Missense_Mutation	SNP	45754571	45754571	3813	21	G	A	A	37	37	COL18A1	A	1	1
COL6A1	1291	broad.mit.edu	36	21	46228785	46228785	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46228785G>T	uc002zhu.1	+	c.402G>T	c.(400-402)AAG>AAT	p.K134N		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	134	VWFA 1.|N-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)				Palifermin(DB00039)									0.164706	19.380939	28.479372	14	71	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Missense_Mutation	SNP	46228785	46228785	3837	21	G	T	T	33	33	COL6A1	T	3	3
COL6A2	1292	broad.mit.edu	36	21	46356352	46356352	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46356352C>T	uc002zia.1	+	c.147C>T	c.(145-147)TTC>TTT	p.F49F	COL6A2_uc002zhy.1_Silent_p.F49F|COL6A2_uc002zhz.1_Silent_p.F49F|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	49	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)													0.333333	145.31719	149.524311	57	114	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	Silent	SNP	46356352	46356352	3838	21	C	T	T	31	31	COL6A2	T	1	1
FTCD	10841	broad.mit.edu	36	21	46381637	46381637	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46381637A>G	uc002zif.1	-	c.1483T>C	c.(1483-1485)TAT>CAT	p.Y495H	FTCD_uc002zig.1_Missense_Mutation_p.Y495H|FTCD_uc002zih.1_Missense_Mutation_p.Y495H|FTCD_uc010gqf.1_Missense_Mutation_p.I480T|FTCD_uc010gqg.1_Missense_Mutation_p.Y364H|FTCD_uc002zie.1_Non-coding_Transcript	NM_006657	NP_996848	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	495	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)	1	Breast(49;0.214)				L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)									0.418182	376.105713	377.705255	115	160	AA		KEEP	---	---	---	---	capture		Colorectal(79;0.235)	Missense_Mutation	SNP	46381637	46381637	6332	21	A	G	G	16	16	FTCD	G	4	4
FTCD	10841	broad.mit.edu	36	21	46389842	46389842	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46389842G>A	uc002zif.1	-	c.1177C>T	c.(1177-1179)CGC>TGC	p.R393C	FTCD_uc002zig.1_Missense_Mutation_p.R393C|FTCD_uc002zih.1_Missense_Mutation_p.R393C|FTCD_uc010gqf.1_Missense_Mutation_p.R393C|FTCD_uc010gqg.1_Missense_Mutation_p.R262C|FTCD_uc002zie.1_5'Flank	NM_006657	NP_996848	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	393	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)	1	Breast(49;0.214)				L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)									0.666667	11.500599	11.647832	4	2	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.235)	Missense_Mutation	SNP	46389842	46389842	6332	21	G	A	A	38	38	FTCD	A	1	1
LSS	4047	broad.mit.edu	36	21	46451066	46451066	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46451066C>A	uc002zij.1	-	c.1512G>T	c.(1510-1512)GAG>GAT	p.E504D	LSS_uc002zik.1_Missense_Mutation_p.E424D|LSS_uc002zil.1_Missense_Mutation_p.E504D	NM_001001438	NP_002331	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	504	PFTB 2.				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					Pancreas(114;955 2313 34923 50507)								0.4	186.640842	188.221072	72	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46451066	46451066	9441	21	C	A	A	32	32	LSS	A	3	3
MCM3AP	8888	broad.mit.edu	36	21	46509696	46509696	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46509696C>T	uc002zir.1	-	c.3201G>A	c.(3199-3201)CCG>CCA	p.P1067P	MCM3AP_uc002ziq.1_5'UTR	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1067					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)									639				0.25	43.727452	48.506944	21	63	CC		KEEP	---	---	---	---	capture			Silent	SNP	46509696	46509696	9777	21	C	T	T	27	27	MCM3AP	T	1	1
C21orf58	54058	broad.mit.edu	36	21	46567032	46567032	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46567032G>A	uc002zjf.1	-	c.49C>T	c.(49-51)CTC>TTC	p.L17F	PCNT_uc002zji.2_5'Flank|PCNT_uc002zjj.1_5'Flank|C21orf58_uc002zja.2_5'Flank|C21orf58_uc010gqj.1_Non-coding_Transcript|C21orf58_uc002zjg.1_Non-coding_Transcript	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	17										pancreas(1)	1	Breast(49;0.112)													0.52381	29.164156	29.178473	11	10	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.239)	Missense_Mutation	SNP	46567032	46567032	2209	21	G	A	A	34	34	C21orf58	A	2	2
PCNT	5116	broad.mit.edu	36	21	46598375	46598375	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46598375G>T	uc002zji.2	+	c.1726G>T	c.(1726-1728)GAT>TAT	p.D576Y	PCNT_uc002zjj.1_Missense_Mutation_p.D458Y	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	576	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)													0.195402	28.809584	36.355881	17	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46598375	46598375	12010	21	G	T	T	33	33	PCNT	T	3	3
PCNT	5116	broad.mit.edu	36	21	46611235	46611235	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46611235C>T	uc002zji.2	+	c.2918C>T	c.(2917-2919)TCC>TTC	p.S973F	PCNT_uc002zjj.1_Missense_Mutation_p.S855F	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	973					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)													0.14527	60.518755	96.366975	43	253	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46611235	46611235	12010	21	C	T	T	30	30	PCNT	T	2	2
PCNT	5116	broad.mit.edu	36	21	46655992	46655992	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46655992C>T	uc002zji.2	+	c.5577C>T	c.(5575-5577)TTC>TTT	p.F1859F	PCNT_uc002zjj.1_Silent_p.F1741F	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1859	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)													0.194175	37.839604	46.832082	20	83	CC		KEEP	---	---	---	---	capture			Silent	SNP	46655992	46655992	12010	21	C	T	T	31	31	PCNT	T	1	1
S100B	6285	broad.mit.edu	36	21	46843719	46843719	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46843719G>T	uc002zju.1	-	c.264C>A	c.(262-264)TTC>TTA	p.F88L	S100B_uc002zjv.1_3'UTR	NM_006272	NP_006263	P04271	S100B_HUMAN	S100 calcium-binding protein, beta	88					axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding				0	Breast(49;0.247)	Lung NSC(3;0.245)												0.209386	106.569356	128.269677	58	219	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)	Missense_Mutation	SNP	46843719	46843719	14268	21	G	T	T	33	33	S100B	T	3	3
CCT8L2	150160	broad.mit.edu	36	22	15452763	15452763	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15452763C>T	uc002zlp.1	-	c.678G>A	c.(676-678)GGG>GGA	p.G226G		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	226					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.356436	195.280813	198.93179	72	130	CC		KEEP	---	---	---	---	capture			Silent	SNP	15452763	15452763	3088	22	C	T	T	30	30	CCT8L2	T	2	2
GAB4	128954	broad.mit.edu	36	22	15823704	15823704	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15823704C>T	uc002zlw.1	-	c.1644G>A	c.(1642-1644)AAG>AAA	p.K548K		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	548										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)												0.376238	108.420106	109.779872	38	63	CC		KEEP	---	---	---	---	capture			Silent	SNP	15823704	15823704	6402	22	C	T	T	32	32	GAB4	T	2	2
GAB4	128954	broad.mit.edu	36	22	15826085	15826085	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15826085C>T	uc002zlw.1	-	c.1362G>A	c.(1360-1362)GAG>GAA	p.E454E		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	454										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)												0.204082	38.338942	46.313724	20	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	15826085	15826085	6402	22	C	T	T	28	28	GAB4	T	2	2
IL17RA	23765	broad.mit.edu	36	22	15969696	15969696	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15969696C>T	uc002zly.1	+	c.1587C>T	c.(1585-1587)TTC>TTT	p.F529F	IL17RA_uc010gqt.1_Silent_p.F477F	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	529	Cytoplasmic (Potential).|SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)												0.269231	16.214125	17.463462	7	19	CC		KEEP	---	---	---	---	capture		Colorectal(9;0.241)	Silent	SNP	15969696	15969696	7940	22	C	T	T	31	31	IL17RA	T	1	1
CECR6	27439	broad.mit.edu	36	22	15980982	15980982	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15980982G>A	uc002zmb.1	-	c.1036C>T	c.(1036-1038)CCC>TCC	p.P346S	CECR6_uc002zma.1_5'UTR	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	346											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)												0.123967	16.570109	33.277933	15	106	GG		KEEP	---	---	---	---	capture		Colorectal(9;0.221)	Missense_Mutation	SNP	15980982	15980982	3341	22	G	A	A	42	42	CECR6	A	2	2
BCL2L13	23786	broad.mit.edu	36	22	16518525	16518525	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16518525G>T	uc002zmw.1	+	c.48G>T	c.(46-48)AAG>AAT	p.K16N	BCL2L13_uc002zmu.1_Missense_Mutation_p.K16N|BCL2L13_uc002zmv.1_Missense_Mutation_p.K16N|BCL2L13_uc002zmx.1_5'UTR|BCL2L13_uc002zmy.1_Missense_Mutation_p.K16N|BCL2L13_uc010gqy.1_5'UTR|BCL2L13_uc010gqz.1_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	16	BH4.				activation of caspase activity|induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)												0.190184	63.434473	78.061675	31	132	GG		KEEP	---	---	---	---	capture		Lung(27;0.199)	Missense_Mutation	SNP	16518525	16518525	1392	22	G	T	T	36	36	BCL2L13	T	3	3
BCL2L13	23786	broad.mit.edu	36	22	16565018	16565018	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16565018C>T	uc002zmw.1	+	c.466C>T	c.(466-468)CCT>TCT	p.P156S	BCL2L13_uc002zmu.1_Missense_Mutation_p.P156S|BCL2L13_uc002zmv.1_Missense_Mutation_p.P156S|BCL2L13_uc002zmx.1_5'UTR|BCL2L13_uc002zmy.1_Intron|BCL2L13_uc010gqy.1_5'UTR|BCL2L13_uc010gqz.1_Intron|BCL2L13_uc002zmz.1_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	156	BH1.				activation of caspase activity|induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)												0.132616	45.986971	82.561078	37	242	CC		KEEP	---	---	---	---	capture		Lung(27;0.199)	Missense_Mutation	SNP	16565018	16565018	1392	22	C	T	T	26	26	BCL2L13	T	2	2
MICAL3	57553	broad.mit.edu	36	22	16690470	16690470	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16690470T>C	uc002zng.2	-	c.52A>G	c.(52-54)ATC>GTC	p.I18V				Q7RTP6	MICA3_HUMAN	Uncharacterized protein KIAA0819.	1045	Glu-rich.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)												0.2	7.31978	8.572771	3	12	TT		KEEP	---	---	---	---	capture		Lung(27;0.0427)	Missense_Mutation	SNP	16690470	16690470	9961	22	T	C	C	49	49	MICAL3	C	4	4
MICAL3	57553	broad.mit.edu	36	22	16734616	16734616	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16734616G>A	uc010grf.1	-	c.2787C>T	c.(2785-2787)TAC>TAT	p.Y929Y	MICAL3_uc002znh.2_Silent_p.Y805Y|MICAL3_uc002znl.1_Silent_p.Y438Y|MICAL3_uc002znj.1_Silent_p.Y533Y|MICAL3_uc002znk.1_Silent_p.Y805Y|MICAL3_uc002znm.1_Silent_p.Y306Y	NM_001122731	NP_001116203	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	805	LIM zinc-binding.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)												0.142857	7.05123	11.354205	5	30	GG		KEEP	---	---	---	---	capture		Lung(27;0.0427)	Silent	SNP	16734616	16734616	9961	22	G	A	A	40	40	MICAL3	A	1	1
MICAL3	57553	broad.mit.edu	36	22	16751817	16751817	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16751817T>C	uc010grf.1	-	c.1874A>G	c.(1873-1875)GAC>GGC	p.D625G	MICAL3_uc002znh.2_Missense_Mutation_p.D625G|MICAL3_uc002znl.1_Missense_Mutation_p.D258G|MICAL3_uc002znj.1_Missense_Mutation_p.D325G|MICAL3_uc002znk.1_Missense_Mutation_p.D625G|MICAL3_uc002znm.1_Missense_Mutation_p.D126G	NM_001122731	NP_001116203	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	625					oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)										OREG0026284	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.184615	27.475283	33.528082	12	53	TT		KEEP	---	---	---	---	capture		Lung(27;0.0427)	Missense_Mutation	SNP	16751817	16751817	9961	22	T	C	C	58	58	MICAL3	C	4	4
MICAL3	57553	broad.mit.edu	36	22	16759112	16759112	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16759112C>A	uc010grf.1	-	c.1222G>T	c.(1222-1224)GGA>TGA	p.G408*	MICAL3_uc002znh.2_Nonsense_Mutation_p.G408*|MICAL3_uc002znl.1_Nonsense_Mutation_p.G41*|MICAL3_uc002znj.1_Nonsense_Mutation_p.G108*|MICAL3_uc002znk.1_Nonsense_Mutation_p.G408*|MICAL3_uc002znm.1_5'Flank	NM_001122731	NP_001116203	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	408					oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)										OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.25	6.618325	7.300855	3	9	CC		KEEP	---	---	---	---	capture		Lung(27;0.0427)	Nonsense_Mutation	SNP	16759112	16759112	9961	22	C	A	A	22	22	MICAL3	A	5	3
TUBA8	51807	broad.mit.edu	36	22	16984375	16984375	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16984375G>A	uc002znw.1	+	c.205G>A	c.(205-207)GAT>AAT	p.D69N	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znu.1_Missense_Mutation_p.D45N|TUBA8_uc002znv.1_Missense_Mutation_p.D45N	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	45					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0														0.347458	108.237506	110.661934	41	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16984375	16984375	17305	22	G	A	A	37	37	TUBA8	A	1	1
TUBA8	51807	broad.mit.edu	36	22	16989124	16989124	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16989124G>T	uc002znw.1	+	c.451G>T	c.(451-453)GAT>TAT	p.D151Y	TUBA8_uc002znr.2_Missense_Mutation_p.D61Y|TUBA8_uc002znu.1_Splice_Site_SNP_p.M126_splice|TUBA8_uc002znv.1_Missense_Mutation_p.D127Y|TUBA8_uc002znx.1_5'UTR	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	127					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0														0.457447	351.591836	352.041663	129	153	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16989124	16989124	17305	22	G	T	T	33	33	TUBA8	T	3	3
TUBA8	51807	broad.mit.edu	36	22	16989668	16989668	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16989668G>T	uc002znw.1	+	c.995G>T	c.(994-996)AGA>ATA	p.R332I	TUBA8_uc002znr.2_Missense_Mutation_p.R242I|TUBA8_uc002znv.1_Missense_Mutation_p.R308I|TUBA8_uc002znx.1_Missense_Mutation_p.R155I	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	308					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0														0.379913	217.624972	220.536723	87	142	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16989668	16989668	17305	22	G	T	T	33	33	TUBA8	T	3	3
PRODH	5625	broad.mit.edu	36	22	17284407	17284407	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17284407G>A	uc010grl.1	-	c.1522C>T	c.(1522-1524)CGC>TGC	p.R508C	PRODH_uc002zoj.2_Missense_Mutation_p.R398C|PRODH_uc002zol.2_Missense_Mutation_p.R398C|PRODH_uc002zok.2_Missense_Mutation_p.R508C	NM_016335	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase 1	508					glutamate biosynthetic process|induction of apoptosis by oxidative stress|oxidation-reduction process|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)	1					L-Proline(DB00172)									0.478261	61.944597	61.963385	22	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17284407	17284407	12991	22	G	A	A	38	38	PRODH	A	1	1
DGCR2	9993	broad.mit.edu	36	22	17408649	17408649	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17408649C>T	uc002zoq.1	-	c.1318G>A	c.(1318-1320)GAC>AAC	p.D440N	DGCR2_uc002zor.1_Missense_Mutation_p.D216N	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2	440	Cytoplasmic (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)													0.177083	31.116818	40.549308	17	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17408649	17408649	4640	22	C	T	T	30	30	DGCR2	T	2	2
DGCR14	8220	broad.mit.edu	36	22	17505796	17505796	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17505796T>C	uc002zou.1	-	c.857A>G	c.(856-858)GAG>GGG	p.E286G	DGCR14_uc002zot.1_Missense_Mutation_p.E207G|DGCR14_uc002zov.1_Intron	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	286					nervous system development|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)									49				0.454545	119.221378	119.359283	35	42	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17505796	17505796	4639	22	T	C	C	54	54	DGCR14	C	4	4
CLTCL1	8218	broad.mit.edu	36	22	17601059	17601059	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17601059G>A	uc002zpb.1	-	c.1254C>T	c.(1252-1254)TTC>TTT	p.F418F	CLTCL1_uc002zpc.1_Non-coding_Transcript	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1	418	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)									1206				0.142857	23.099608	37.726588	17	102	GG		KEEP	---	---	---	---	capture			Silent	SNP	17601059	17601059	3705	22	G	A	A	37	37	CLTCL1	A	1	1
HIRA	7290	broad.mit.edu	36	22	17698984	17698984	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17698984G>A	uc002zpf.1	-	c.3033C>T	c.(3031-3033)CTC>CTT	p.L1011L	HIRA_uc010grn.1_Silent_p.L804L|HIRA_uc010gro.1_Silent_p.L967L	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	1011	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(1)	1	Colorectal(54;0.0993)													0.472727	213.129197	213.23607	78	87	GG		KEEP	---	---	---	---	capture			Silent	SNP	17698984	17698984	7405	22	G	A	A	37	37	HIRA	A	1	1
HIRA	7290	broad.mit.edu	36	22	17724452	17724452	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17724452T>C	uc002zpf.1	-	c.2357A>G	c.(2356-2358)TAC>TGC	p.Y786C	HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Missense_Mutation_p.Y742C	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	786	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.|WD 8.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(1)	1	Colorectal(54;0.0993)													0.404412	161.606152	162.68844	55	81	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17724452	17724452	7405	22	T	C	C	57	57	HIRA	C	4	4
HIRA	7290	broad.mit.edu	36	22	17745469	17745469	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17745469G>A	uc002zpf.1	-	c.1536C>T	c.(1534-1536)TTC>TTT	p.F512F	HIRA_uc010grn.1_Silent_p.F512F|HIRA_uc010gro.1_Silent_p.F468F	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	512	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(1)	1	Colorectal(54;0.0993)													0.247059	180.6643	200.53606	84	256	GG		KEEP	---	---	---	---	capture			Silent	SNP	17745469	17745469	7405	22	G	A	A	37	37	HIRA	A	1	1
HIRA	7290	broad.mit.edu	36	22	17759688	17759688	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17759688G>A	uc002zpf.1	-	c.872C>T	c.(871-873)GCG>GTG	p.A291V	HIRA_uc010grn.1_Missense_Mutation_p.A291V|HIRA_uc010gro.1_Missense_Mutation_p.A247V|HIRA_uc010grp.1_Missense_Mutation_p.A247V	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	291	WD 6.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(1)	1	Colorectal(54;0.0993)													0.462687	170.62743	170.790429	62	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17759688	17759688	7405	22	G	A	A	38	38	HIRA	A	1	1
UFD1L	7353	broad.mit.edu	36	22	17835496	17835496	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17835496C>T	uc002zpm.1	-	c.322G>A	c.(322-324)GGC>AGC	p.G108S	UFD1L_uc002zpn.1_Missense_Mutation_p.G97S|UFD1L_uc002zpo.1_Missense_Mutation_p.G108S|UFD1L_uc002zpp.1_Missense_Mutation_p.G61S|UFD1L_uc010grq.1_Missense_Mutation_p.G61S	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	108					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)													0.410156	298.132787	299.935028	105	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17835496	17835496	17493	22	C	T	T	23	23	UFD1L	T	1	1
CDC45	8318	broad.mit.edu	36	22	17882570	17882570	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17882570C>T	uc002zps.1	+	c.1439C>T	c.(1438-1440)TCG>TTG	p.S480L	CDC45_uc002zpr.1_Missense_Mutation_p.S480L|CDC45_uc002zpt.1_Missense_Mutation_p.S434L	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	480					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1														0.385965	58.444439	59.09095	22	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17882570	17882570	3210	22	C	T	T	31	31	CDC45	T	1	1
SEPT5	5413	broad.mit.edu	36	22	18088318	18088318	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18088318A>G	uc002zpv.1	+	c.643A>G	c.(643-645)ATC>GTC	p.I215V	SEPT5_uc002zpw.1_Non-coding_Transcript|SEPT5_uc002zpx.1_Non-coding_Transcript|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	215					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Colorectal(54;0.0993)									70				0.457565	401.278985	401.702408	124	147	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18088318	18088318	14553	22	A	G	G	12	12	SEPT5	G	4	4
TBX1	6899	broad.mit.edu	36	22	18146850	18146850	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18146850C>T	uc002zqb.1	+	c.1117C>T	c.(1117-1119)CTC>TTC	p.L373F	TBX1_uc002zqc.1_Intron	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	373					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)												0.503597	201.031143	201.032578	70	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18146850	18146850	16176	22	C	T	T	28	28	TBX1	T	2	2
GNB1L	54584	broad.mit.edu	36	22	18169690	18169690	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18169690G>A	uc002zqe.1	-	c.566C>T	c.(565-567)TCG>TTG	p.S189L	GNB1L_uc002zqd.1_Missense_Mutation_p.S45L|GNB1L_uc002zqf.1_Missense_Mutation_p.S189L	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	189	WD 3.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane				breast(1)	1	Colorectal(54;0.0993)													0.217391	51.919998	60.3858	25	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18169690	18169690	6785	22	G	A	A	37	37	GNB1L	A	1	1
GNB1L	54584	broad.mit.edu	36	22	18179854	18179854	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18179854C>T	uc002zqe.1	-	c.371G>A	c.(370-372)GGC>GAC	p.G124D	GNB1L_uc002zqd.1_5'UTR|GNB1L_uc002zqf.1_Missense_Mutation_p.G124D	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	124					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane				breast(1)	1	Colorectal(54;0.0993)													0.166667	19.598592	27.15275	12	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18179854	18179854	6785	22	C	T	T	26	26	GNB1L	T	2	2
COMT	1312	broad.mit.edu	36	22	18331200	18331200	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18331200C>T	uc002zqu.1	+	c.401C>T	c.(400-402)GCG>GTG	p.A134V	COMT_uc002zqt.1_Missense_Mutation_p.A134V|COMT_uc002zqv.1_Missense_Mutation_p.A134V|COMT_uc002zqw.1_Missense_Mutation_p.A134V|COMT_uc002zqx.1_Missense_Mutation_p.A134V	NM_000754	NP_009294	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	134					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)									0.533333	133.514566	133.604025	48	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18331200	18331200	3863	22	C	T	T	27	27	COMT	T	1	1
TRMT2A	27037	broad.mit.edu	36	22	18480130	18480130	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18480130G>A	uc002zrn.1	-	c.1888C>T	c.(1888-1890)CCA>TCA	p.P630S	TRMT2A_uc002zrk.1_Missense_Mutation_p.P612S|TRMT2A_uc002zrl.1_Missense_Mutation_p.P612S|TRMT2A_uc002zrm.1_Missense_Mutation_p.P434S	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	612					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1														0.435484	161.35616	161.800493	54	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18480130	18480130	17115	22	G	A	A	43	43	TRMT2A	A	2	2
TRMT2A	27037	broad.mit.edu	36	22	18484133	18484133	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18484133G>A	uc002zrn.1	-	c.27C>T	c.(25-27)GGC>GGT	p.G9G	TRMT2A_uc002zrk.1_Silent_p.G9G|TRMT2A_uc002zrl.1_Silent_p.G9G|TRMT2A_uc002zrm.1_5'UTR|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	9					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1														0.253333	38.979401	43.132257	19	56	GG		KEEP	---	---	---	---	capture			Silent	SNP	18484133	18484133	17115	22	G	A	A	42	42	TRMT2A	A	2	2
ZDHHC8	29801	broad.mit.edu	36	22	18510507	18510507	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18510507C>T	uc002zrr.1	+	c.1354C>T	c.(1354-1356)CGC>TGC	p.R452C	ZDHHC8_uc002zrq.1_Missense_Mutation_p.R452C|ZDHHC8_uc010gsa.1_Missense_Mutation_p.R258C	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	452	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1	Colorectal(54;0.0993)													0.236364	25.646864	29.143825	13	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18510507	18510507	18209	22	C	T	T	27	27	ZDHHC8	T	1	1
RTN4R	65078	broad.mit.edu	36	22	18610019	18610019	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18610019G>A	uc002zrv.1	-	c.637C>T	c.(637-639)CGC>TGC	p.R213C	RTN4R_uc002zru.1_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	213	LRR 7.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)													0.193333	55.701928	68.869401	29	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18610019	18610019	14210	22	G	A	A	39	39	RTN4R	A	1	1
RIMBP3	85376	broad.mit.edu	36	22	18837248	18837248	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18837248G>A	uc002zsd.2	-	c.4054C>T	c.(4054-4056)CGG>TGG	p.R1352W		NM_015672	NP_056487			DKFZP434H0735 protein												0	Colorectal(54;0.0993)|Melanoma(16;0.165)													0.217391	10.06156	11.756569	5	18	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		Missense_Mutation	SNP	18837248	18837248	13839	22	G	A	A	37	37	RIMBP3	A	1	1
RIMBP3	85376	broad.mit.edu	36	22	18838216	18838216	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18838216C>T	uc002zsd.2	-	c.3086G>A	c.(3085-3087)CGA>CAA	p.R1029Q		NM_015672	NP_056487			DKFZP434H0735 protein												0	Colorectal(54;0.0993)|Melanoma(16;0.165)													0.294118	23.035909	24.32647	10	24	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		Missense_Mutation	SNP	18838216	18838216	13839	22	C	T	T	31	31	RIMBP3	T	1	1
ZNF74	7625	broad.mit.edu	36	22	19085595	19085595	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:19085595C>T	uc010gsm.1	+	c.276C>T	c.(274-276)ATC>ATT	p.I92I	ZNF74_uc002zsg.1_Silent_p.I21I|ZNF74_uc002zsh.1_Silent_p.I92I|ZNF74_uc002zsi.1_Silent_p.I21I|ZNF74_uc010gsn.1_Silent_p.I21I	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	92	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)												0.285714	28.477458	30.211785	12	30	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		Silent	SNP	19085595	19085595	18725	22	C	T	T	32	32	ZNF74	T	2	2
ZNF74	7625	broad.mit.edu	36	22	19090988	19090988	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:19090988G>A	uc010gsm.1	+	c.1665G>A	c.(1663-1665)TCG>TCA	p.S555S	ZNF74_uc002zsg.1_Silent_p.S484S|ZNF74_uc002zsh.1_Silent_p.S555S|ZNF74_uc002zsi.1_Silent_p.S484S|ZNF74_uc010gsn.1_Silent_p.S484S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	555					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)												0.482353	229.155759	229.200404	82	88	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		Silent	SNP	19090988	19090988	18725	22	G	A	A	40	40	ZNF74	A	1	1
SCARF2	91179	broad.mit.edu	36	22	19114786	19114786	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:19114786C>T	uc002zsj.1	-	c.1132G>A	c.(1132-1134)GAC>AAC	p.D378N	SCARF2_uc002zsk.1_Missense_Mutation_p.D378N	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	378	EGF-like 7.|Extracellular (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)												0.434783	26.946511	27.031631	10	13	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		Missense_Mutation	SNP	19114786	19114786	14365	22	C	T	T	31	31	SCARF2	T	1	1
SNAP29	9342	broad.mit.edu	36	22	19567824	19567824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:19567824C>T	uc002zte.1	+	c.586C>T	c.(586-588)CGA>TGA	p.R196*		NM_004782	NP_004773	O95721	SNP29_HUMAN	synaptosomal-associated protein 29	196	t-SNARE coiled-coil homology.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity				0	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)												0.446483	405.273624	406.091995	146	181	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		Nonsense_Mutation	SNP	19567824	19567824	15331	22	C	T	T	31	31	SNAP29	T	5	1
LZTR1	8216	broad.mit.edu	36	22	19678909	19678909	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:19678909T>C	uc002zto.1	+	c.1678T>C	c.(1678-1680)TGC>CGC	p.C560R	LZTR1_uc002ztn.1_Missense_Mutation_p.C519R|LZTR1_uc010gsr.1_3'UTR|LZTR1_uc002ztp.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	560					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)								1299				0.296875	50.503128	52.862808	19	45	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		Missense_Mutation	SNP	19678909	19678909	9514	22	T	C	C	59	59	LZTR1	C	4	4
P2RX6	9127	broad.mit.edu	36	22	19702283	19702283	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:19702283G>A	uc010gsu.1	+	c.321G>A	c.(319-321)GAG>GAA	p.E107E	P2RX6_uc002ztz.2_Silent_p.E71E|P2RX6_uc010gst.1_3'UTR|P2RX6_uc002zua.2_Intron|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X-like 1, orphan receptor	107	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0														0.16	14.765826	20.271574	8	42	GG		KEEP	---	---	---	---	capture			Silent	SNP	19702283	19702283	11757	22	G	A	A	33	33	P2RX6	A	2	2
SLC7A4	6545	broad.mit.edu	36	22	19715120	19715120	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:19715120C>T	uc002zud.1	-	c.982G>A	c.(982-984)GCC>ACC	p.A328T	SLC7A4_uc002zue.1_Missense_Mutation_p.A328T	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	328	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)			L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.208333	34.192753	39.859763	15	57	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		Missense_Mutation	SNP	19715120	19715120	15196	22	C	T	T	23	23	SLC7A4	T	1	1
UBE2L3	7332	broad.mit.edu	36	22	20295263	20295263	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20295263G>A	uc002zva.1	+	c.241G>A	c.(241-243)GAA>AAA	p.E81K	UBE2L3_uc002zuz.1_Missense_Mutation_p.E81K|UBE2L3_uc010gti.1_Non-coding_Transcript	NM_003347	NP_003338	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3 isoform 1	81					cell proliferation|cellular response to glucocorticoid stimulus|post-translational protein modification|protein K11-linked ubiquitination|regulation of gene-specific transcription|regulation of S phase of mitotic cell cycle|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|enzyme binding|transcription coactivator activity|ubiquitin-protein ligase activity				0	Colorectal(54;0.105)													0.454545	99.91756	100.055667	35	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20295263	20295263	17420	22	G	A	A	37	37	UBE2L3	A	1	1
CCDC116	164592	broad.mit.edu	36	22	20320747	20320747	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20320747G>A	uc002zve.1	+	c.1230G>A	c.(1228-1230)ACG>ACA	p.T410T		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	410										ovary(1)	1	Colorectal(54;0.105)													0.391304	69.822368	70.531157	27	42	GG		KEEP	---	---	---	---	capture			Silent	SNP	20320747	20320747	2873	22	G	A	A	37	37	CCDC116	A	1	1
PPIL2	23759	broad.mit.edu	36	22	20378901	20378901	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20378901G>A	uc002zvh.2	+	c.1216G>A	c.(1216-1218)GTA>ATA	p.V406I	PPIL2_uc010gtj.1_Missense_Mutation_p.V406I|PPIL2_uc002zvi.2_Missense_Mutation_p.V406I|PPIL2_uc002zvg.2_Missense_Mutation_p.V406I|PPIL2_uc002zvk.2_Missense_Mutation_p.V152I	NM_148176	NP_680481	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform b	406	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-protein ligase activity			ovary(2)	2	Colorectal(54;0.105)													0.378205	152.774083	154.808426	59	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20378901	20378901	12762	22	G	A	A	40	40	PPIL2	A	1	1
MAPK1	5594	broad.mit.edu	36	22	20490191	20490191	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20490191T>C	uc002zvn.1	-	c.440A>G	c.(439-441)CAC>CGC	p.H147R	MAPK1_uc002zvo.1_Missense_Mutation_p.H147R|MAPK1_uc010gtk.1_Missense_Mutation_p.H147R	NM_002745	NP_620407	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	147	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1	Colorectal(54;0.105)	all_lung(157;3.89e-05)			Arsenic trioxide(DB01169)					164				0.239875	189.28991	209.154304	77	244	TT		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(21;0.0689)	Missense_Mutation	SNP	20490191	20490191	9654	22	T	C	C	59	59	MAPK1	C	4	4
PPM1F	9647	broad.mit.edu	36	22	20617885	20617885	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20617885C>T	uc002zvp.1	-	c.625G>A	c.(625-627)GCC>ACC	p.A209T	PPM1F_uc002zvq.2_Missense_Mutation_p.A209T	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	209					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)													0.345455	92.967848	95.263753	38	72	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(21;0.155)	Missense_Mutation	SNP	20617885	20617885	12774	22	C	T	T	27	27	PPM1F	T	1	1
PPM1F	9647	broad.mit.edu	36	22	20630359	20630359	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20630359C>T	uc002zvp.1	-	c.62G>A	c.(61-63)GGC>GAC	p.G21D	PPM1F_uc002zvq.2_Missense_Mutation_p.G21D	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	21					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)													0.437186	231.162951	231.850201	87	112	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(21;0.155)	Missense_Mutation	SNP	20630359	20630359	12774	22	C	T	T	26	26	PPM1F	T	2	2
ZNF280A	129025	broad.mit.edu	36	22	21199091	21199091	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:21199091C>A	uc002zwe.1	-	c.864G>T	c.(862-864)GGG>GGT	p.G288G	ZNF280A_uc010gtq.1_Silent_p.G288G	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)												0.193642	127.336063	157.568287	67	279	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(21;0.145)	Silent	SNP	21199091	21199091	18406	22	C	A	A	26	26	ZNF280A	A	3	3
BCR	613	broad.mit.edu	36	22	21854240	21854240	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:21854240G>A	uc002zww.1	+	c.1093G>A	c.(1093-1095)GAC>AAC	p.D365N	BCR_uc002zwx.1_Missense_Mutation_p.D365N	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	365	Kinase.|Binding to ABL SH2-domain.				protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)	10										1115				0.127907	11.455576	23.089777	11	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21854240	21854240	1410	22	G	A	A	41	41	BCR	A	2	2
IGLL1	3543	broad.mit.edu	36	22	22247270	22247270	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22247270C>T	uc002zxd.1	-	c.207_splice	c.e2-1	p.R69_splice	IGLL1_uc002zxe.1_Intron	NM_020070	NP_064455			immunoglobulin lambda-like polypeptide 1 isoform						immune response	extracellular region|membrane					0														0.170732	41.593748	54.20983	21	102	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	22247270	22247270	7894	22	C	T	T	24	24	IGLL1	T	5	2
RGL4	266747	broad.mit.edu	36	22	22370479	22370479	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22370479C>A	uc002zxn.1	+	c.1341C>A	c.(1339-1341)GTC>GTA	p.V447V	LOC91316_uc002zxj.2_Intron|LOC91316_uc002zxk.2_Intron|LOC91316_uc010gua.1_Intron|LOC91316_uc002zxl.2_Intron|LOC91316_uc002zxm.2_Intron|RGL4_uc002zxo.1_Silent_p.V447V|RGL4_uc002zxp.1_Silent_p.V311V|RGL4_uc002zxq.1_Silent_p.V311V	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation	447	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			ovary(1)	1										238				0.166667	25.550838	35.659383	16	80	CC		KEEP	---	---	---	---	capture			Silent	SNP	22370479	22370479	13752	22	C	A	A	29	29	RGL4	A	3	3
ZNF70	7621	broad.mit.edu	36	22	22416579	22416579	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22416579C>T	uc002zxs.1	-	c.749G>A	c.(748-750)AGA>AAA	p.R250K	ZNF70_uc002zxr.1_5'Flank|ZNF70_uc010guc.1_Missense_Mutation_p.R250K	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	250					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2														0.292994	122.984704	129.009632	46	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22416579	22416579	18698	22	C	T	T	32	32	ZNF70	T	2	2
VPREB3	29802	broad.mit.edu	36	22	22425228	22425228	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22425228G>A	uc002zxt.1	-	c.207C>T	c.(205-207)CTC>CTT	p.L69L	ZNF70_uc002zxs.1_5'Flank	NM_013378	NP_037510	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	69	Ig-like.					endoplasmic reticulum					0		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)												0.256881	64.540114	70.388804	28	81	GG		KEEP	---	---	---	---	capture			Silent	SNP	22425228	22425228	17754	22	G	A	A	33	33	VPREB3	A	2	2
SLC2A11	66035	broad.mit.edu	36	22	22549270	22549270	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22549270G>A	uc002zym.2	+	c.469G>A	c.(469-471)GCC>ACC	p.A157T	SLC2A11_uc002zyl.1_Missense_Mutation_p.A157T|SLC2A11_uc002zyn.2_Missense_Mutation_p.A150T|SLC2A11_uc002zyo.2_Non-coding_Transcript|SLC2A11_uc002zyp.2_Missense_Mutation_p.A153T	NM_030807	NP_110434	Q9BYW1	GTR11_HUMAN	glucose transporter protein 10 isoform a	150	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity			ovary(1)	1														0.444954	263.141539	263.716302	97	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22549270	22549270	15037	22	G	A	A	38	38	SLC2A11	A	1	1
GSTT2	2953	broad.mit.edu	36	22	22630556	22630556	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22630556C>A	uc002zyw.2	-	c.441G>T	c.(439-441)GAG>GAT	p.E147D	GSTT2_uc002zyx.2_Missense_Mutation_p.E147D	NM_000854	NP_001074312	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	147	GST C-terminal.					cytoplasm	glutathione transferase activity				0														0.6	59.975624	60.280563	21	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22630556	22630556	7126	22	C	A	A	24	24	GSTT2	A	3	3
GSTT2	2953	broad.mit.edu	36	22	22653191	22653191	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22653191G>A	uc002zzb.2	+	c.165G>A	c.(163-165)CCG>CCA	p.P55P	DDT_uc002zza.2_5'Flank|GSTT2_uc002zzc.2_Silent_p.P55P	NM_000854	NP_001074312	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	55	GST N-terminal.					cytoplasm	glutathione transferase activity				0														0.42236	187.759261	188.608616	68	93	GG		KEEP	---	---	---	---	capture			Silent	SNP	22653191	22653191	7126	22	G	A	A	37	37	GSTT2	A	1	1
CABIN1	23523	broad.mit.edu	36	22	22817598	22817598	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22817598G>A	uc002zzi.1	+	c.3587G>A	c.(3586-3588)CGC>CAC	p.R1196H	CABIN1_uc002zzj.1_Missense_Mutation_p.R1146H|CABIN1_uc002zzl.1_Missense_Mutation_p.R1196H	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1196					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.237374	100.190511	112.629205	47	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22817598	22817598	2644	22	G	A	A	38	38	CABIN1	A	1	1
CABIN1	23523	broad.mit.edu	36	22	22892757	22892757	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22892757G>A	uc002zzi.1	+	c.5158G>A	c.(5158-5160)GAG>AAG	p.E1720K	CABIN1_uc002zzj.1_Missense_Mutation_p.E1641K|CABIN1_uc002zzl.1_Missense_Mutation_p.E1720K|CABIN1_uc002zzm.1_Missense_Mutation_p.E145K	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1720					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.545455	187.341535	187.557906	66	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22892757	22892757	2644	22	G	A	A	37	37	CABIN1	A	1	1
CABIN1	23523	broad.mit.edu	36	22	22903719	22903719	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22903719G>A	uc002zzi.1	+	c.6453G>A	c.(6451-6453)ACG>ACA	p.T2151T	CABIN1_uc002zzj.1_Silent_p.T2072T|CABIN1_uc002zzl.1_Silent_p.T2151T|CABIN1_uc010gul.1_Silent_p.T89T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2151	Required for interaction with calcineurin (By similarity).				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.444444	129.451629	129.769305	52	65	GG		KEEP	---	---	---	---	capture			Silent	SNP	22903719	22903719	2644	22	G	A	A	38	38	CABIN1	A	1	1
SUSD2	56241	broad.mit.edu	36	22	22910247	22910247	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22910247G>A	uc002zzn.1	+	c.583G>A	c.(583-585)GAA>AAA	p.E195K		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	195	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity				0														0.173913	27.77441	36.986265	16	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22910247	22910247	15928	22	G	A	A	37	37	SUSD2	A	1	1
UPB1	51733	broad.mit.edu	36	22	23241318	23241318	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23241318G>A	uc003aaf.1	+	c.771G>A	c.(769-771)TCG>TCA	p.S257S	UPB1_uc003aae.1_Silent_p.S189S	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	257	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)													0.186813	66.773928	83.487995	34	148	GG		KEEP	---	---	---	---	capture			Silent	SNP	23241318	23241318	17561	22	G	A	A	39	39	UPB1	A	1	1
GGT1	2678	broad.mit.edu	36	22	23341034	23341034	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23341034G>A	uc003aan.1	+	c.322G>A	c.(322-324)GAG>AAG	p.E108K	GGT1_uc003aas.1_Missense_Mutation_p.E108K|GGT1_uc003aat.1_Missense_Mutation_p.E108K|GGT1_uc003aau.1_Missense_Mutation_p.E108K|GGT1_uc003aav.1_Missense_Mutation_p.E108K|GGT1_uc003aaw.1_Missense_Mutation_p.E108K|GGT1_uc003aax.1_Missense_Mutation_p.E108K	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	108	Extracellular (Potential).			E->Q: Reduces enzyme activity by 98%.	glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)									0.304878	61.943914	64.72943	25	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23341034	23341034	6629	22	G	A	A	37	37	GGT1	A	1	1
PIWIL3	440822	broad.mit.edu	36	22	23449154	23449154	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23449154T>G	uc003abd.1	-	c.2327A>C	c.(2326-2328)AAT>ACT	p.N776T	PIWIL3_uc010gut.1_Missense_Mutation_p.N767T	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	776	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4														0.469388	232.171081	232.290318	69	78	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23449154	23449154	12383	22	T	G	G	52	52	PIWIL3	G	4	4
PIWIL3	440822	broad.mit.edu	36	22	23450956	23450956	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23450956A>C	uc003abd.1	-	c.2156T>G	c.(2155-2157)GTT>GGT	p.V719G	PIWIL3_uc010gut.1_Missense_Mutation_p.V710G	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	719	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4														0.395522	162.134023	163.446001	53	81	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23450956	23450956	12383	22	A	C	C	2	2	PIWIL3	C	4	4
PIWIL3	440822	broad.mit.edu	36	22	23474901	23474901	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23474901G>A	uc003abd.1	-	c.1422C>T	c.(1420-1422)AAC>AAT	p.N474N	PIWIL3_uc010gut.1_Silent_p.N474N	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	474					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4														0.224299	103.785925	118.739067	48	166	GG		KEEP	---	---	---	---	capture			Silent	SNP	23474901	23474901	12383	22	G	A	A	40	40	PIWIL3	A	1	1
SGSM1	129049	broad.mit.edu	36	22	23624165	23624165	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23624165G>A	uc003abg.2	+	c.2414G>A	c.(2413-2415)CGA>CAA	p.R805Q	SGSM1_uc003abh.2_Missense_Mutation_p.R744Q|SGSM1_uc010guu.1_Missense_Mutation_p.R750Q|SGSM1_uc003abj.2_Missense_Mutation_p.R689Q|SGSM1_uc003abi.1_Missense_Mutation_p.R725Q	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	805	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5														0.465649	168.546399	168.682162	61	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23624165	23624165	14713	22	G	A	A	37	37	SGSM1	A	1	1
CRYBB3	1417	broad.mit.edu	36	22	23928690	23928690	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23928690C>T	uc003abo.1	+	c.125C>T	c.(124-126)TCG>TTG	p.S42L		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	42	Beta/gamma crystallin 'Greek key' 1.				visual perception		protein binding|structural constituent of eye lens				0												OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.445205	173.852264	174.231907	65	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23928690	23928690	4051	22	C	T	T	31	31	CRYBB3	T	1	1
LRP5L	91355	broad.mit.edu	36	22	24080564	24080564	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:24080564G>A	uc003abs.1	-	c.654C>T	c.(652-654)GTC>GTT	p.V218V	LRP5L_uc010guw.1_Silent_p.V218V	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	218	LDL-receptor class B 5.					membrane					0														0.115044	7.629059	24.140152	13	100	GG		KEEP	---	---	---	---	capture			Silent	SNP	24080564	24080564	9334	22	G	A	A	37	37	LRP5L	A	1	1
MYO18B	84700	broad.mit.edu	36	22	24752832	24752832	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:24752832G>A	uc003abz.1	+	c.6892G>A	c.(6892-6894)GAG>AAG	p.E2298K	MYO18B_uc003aca.1_Missense_Mutation_p.E2179K|MYO18B_uc010guy.1_Missense_Mutation_p.E2180K|MYO18B_uc010guz.1_Missense_Mutation_p.E2178K|MYO18B_uc010gva.1_Missense_Mutation_p.E281K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2298						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.265306	27.363182	29.801177	13	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24752832	24752832	10461	22	G	A	A	37	37	MYO18B	A	1	1
MYO18B	84700	broad.mit.edu	36	22	24753149	24753149	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:24753149G>A	uc003abz.1	+	c.7209G>A	c.(7207-7209)CCG>CCA	p.P2403P	MYO18B_uc003aca.1_Silent_p.P2284P|MYO18B_uc010guy.1_Silent_p.P2285P|MYO18B_uc010guz.1_Silent_p.P2283P|MYO18B_uc010gva.1_Silent_p.P386P|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2403						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.222222	66.02016	76.851689	34	119	GG		KEEP	---	---	---	---	capture			Silent	SNP	24753149	24753149	10461	22	G	A	A	38	38	MYO18B	A	1	1
ASPHD2	57168	broad.mit.edu	36	22	25168491	25168491	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:25168491G>A	uc003acg.1	+	c.875G>A	c.(874-876)CGC>CAC	p.R292H		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	318	Lumenal (Potential).				oxidation-reduction process|peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			ovary(1)	1														0.451187	463.304668	464.083976	171	208	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25168491	25168491	1074	22	G	A	A	38	38	ASPHD2	A	1	1
HPS4	89781	broad.mit.edu	36	22	25190333	25190333	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:25190333G>A	uc003acl.1	-	c.1263C>T	c.(1261-1263)GCC>GCT	p.A421A	HPS4_uc003ach.1_Silent_p.A156A|HPS4_uc003aci.1_Silent_p.A416A|HPS4_uc003acj.1_Silent_p.A285A|HPS4_uc003ack.1_Silent_p.A212A|HPS4_uc003acn.1_Silent_p.A267A|HPS4_uc010gvd.1_Silent_p.A439A	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	421					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0														0.309735	191.557113	198.851409	70	156	GG		KEEP	---	---	---	---	capture			Silent	SNP	25190333	25190333	7633	22	G	A	A	47	47	HPS4	A	2	2
TFIP11	24144	broad.mit.edu	36	22	25218146	25218146	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:25218146C>A	uc003acr.1	-	c.2347G>T	c.(2347-2349)GAG>TAG	p.E783*	TFIP11_uc003acq.1_Nonsense_Mutation_p.E142*|TFIP11_uc003acs.1_Nonsense_Mutation_p.E783*|TFIP11_uc003act.1_Nonsense_Mutation_p.E783*	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	783					biomineral tissue development|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.237705	57.843853	65.49698	29	93	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	25218146	25218146	16335	22	C	A	A	30	30	TFIP11	A	5	3
MN1	4330	broad.mit.edu	36	22	26523228	26523228	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:26523228C>T	uc003adj.1	-	c.3304G>A	c.(3304-3306)GCC>ACC	p.A1102T		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1102							binding			central_nervous_system(3)|large_intestine(1)|ovary(1)	5										140				0.2	9.729766	12.245658	6	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26523228	26523228	10064	22	C	T	T	27	27	MN1	T	1	1
EMID1	129080	broad.mit.edu	36	22	27960328	27960328	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:27960328C>T	uc003aeo.1	+	c.1064C>T	c.(1063-1065)GCT>GTT	p.A355V	EMID1_uc003aem.1_Missense_Mutation_p.A355V|EMID1_uc003aen.1_Missense_Mutation_p.A353V|EMID1_uc003aep.1_Missense_Mutation_p.A334V	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	353	Collagen-like.					collagen					0														0.485294	98.672465	98.68512	33	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27960328	27960328	5283	22	C	T	T	28	28	EMID1	T	2	2
AP1B1	162	broad.mit.edu	36	22	28057501	28057501	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28057501C>T	uc003afj.1	-	c.2461G>A	c.(2461-2463)GAT>AAT	p.D821N	AP1B1_uc003afi.1_Missense_Mutation_p.D814N|AP1B1_uc003afk.1_Missense_Mutation_p.D814N|AP1B1_uc003afl.1_Missense_Mutation_p.D794N|AP1B1_uc003afh.2_Missense_Mutation_p.D18N	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	821					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)	1														0.396122	388.43444	391.846171	143	218	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28057501	28057501	741	22	C	T	T	31	31	AP1B1	T	1	1
AP1B1	162	broad.mit.edu	36	22	28075285	28075285	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28075285G>A	uc003afj.1	-	c.1359C>T	c.(1357-1359)GGC>GGT	p.G453G	AP1B1_uc003afi.1_Silent_p.G453G|AP1B1_uc003afk.1_Silent_p.G453G|AP1B1_uc003afl.1_Silent_p.G453G	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	453					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)	1														0.448399	338.726583	339.373506	126	155	GG		KEEP	---	---	---	---	capture			Silent	SNP	28075285	28075285	741	22	G	A	A	38	38	AP1B1	A	1	1
RFPL1	5988	broad.mit.edu	36	22	28164826	28164826	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28164826G>A	uc003afn.1	+	c.46G>A	c.(46-48)GGA>AGA	p.G16R	RFPL1S_uc003afm.1_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	16							zinc ion binding				0														0.453782	326.983247	327.424093	108	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28164826	28164826	13724	22	G	A	A	39	39	RFPL1	A	1	1
RFPL1	5988	broad.mit.edu	36	22	28167728	28167728	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28167728G>T	uc003afn.1	+	c.571G>T	c.(571-573)GAA>TAA	p.E191*	RFPL1S_uc003afm.1_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	191	B30.2/SPRY.						zinc ion binding				0														0.154605	64.600305	99.299819	47	257	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	28167728	28167728	13724	22	G	T	T	33	33	RFPL1	T	5	3
NF2	4771	broad.mit.edu	36	22	28368260	28368260	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28368260G>A	uc003age.2	+	c.433G>A	c.(433-435)GCC>ACC	p.A145T	NF2_uc003afy.2_Missense_Mutation_p.A145T|NF2_uc003afz.2_Missense_Mutation_p.A62T|NF2_uc003agb.2_Missense_Mutation_p.A68T|NF2_uc003agc.2_Missense_Mutation_p.A107T|NF2_uc003agd.2_Non-coding_Transcript|NF2_uc003agf.2_Missense_Mutation_p.A145T|NF2_uc003agg.2_Missense_Mutation_p.A145T|NF2_uc003aga.2_Missense_Mutation_p.A103T|NF2_uc003agh.2_Missense_Mutation_p.A104T|NF2_uc003agi.2_Missense_Mutation_p.A62T|NF2_uc003agj.2_Missense_Mutation_p.A145T|NF2_uc003agk.2_Missense_Mutation_p.A107T	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	145	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.K123fs*2(1)|p.L127_D382del(1)|p.A145_L163del(1)|p.L140_P252del(1)		meninges(371)|soft_tissue(271)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	714										350				0.405172	120.393595	121.306773	47	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28368260	28368260	10757	22	G	A	A	38	38	NF2	A	1	1
NF2	4771	broad.mit.edu	36	22	28399387	28399387	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28399387C>T	uc003age.2	+	c.1252C>T	c.(1252-1254)CGC>TGC	p.R418C	NF2_uc003afy.2_Missense_Mutation_p.R418C|NF2_uc003afz.2_Missense_Mutation_p.R335C|NF2_uc003agb.2_Missense_Mutation_p.R341C|NF2_uc003agc.2_Missense_Mutation_p.R380C|NF2_uc003agd.2_Intron|NF2_uc003agf.2_Missense_Mutation_p.R418C|NF2_uc003agg.2_Missense_Mutation_p.R418C|NF2_uc003aga.2_Missense_Mutation_p.R376C|NF2_uc003agh.2_Missense_Mutation_p.R377C|NF2_uc003agi.2_Missense_Mutation_p.R335C|NF2_uc003agj.2_Intron|NF2_uc003agk.2_Missense_Mutation_p.R380C|NF2_uc010gvp.1_Missense_Mutation_p.R82C	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	418	Glu-rich.		R -> C (in vestibular schwannoma).		actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.L127_D382del(5)|p.?(3)|p.M375fs*20(1)|p.R341*(1)		meninges(371)|soft_tissue(271)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	714										350				0.291667	17.61525	18.54837	7	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28399387	28399387	10757	22	C	T	T	31	31	NF2	T	1	1
NF2	4771	broad.mit.edu	36	22	28404260	28404260	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28404260G>A	uc003age.2	+	c.1522G>A	c.(1522-1524)GAC>AAC	p.D508N	NF2_uc003afy.2_Missense_Mutation_p.D508N|NF2_uc003afz.2_Missense_Mutation_p.D425N|NF2_uc003agb.2_Missense_Mutation_p.D431N|NF2_uc003agc.2_Missense_Mutation_p.D470N|NF2_uc003agd.2_Non-coding_Transcript|NF2_uc003agf.2_Missense_Mutation_p.D508N|NF2_uc003agg.2_Missense_Mutation_p.D508N|NF2_uc003aga.2_Missense_Mutation_p.D466N|NF2_uc003agh.2_Missense_Mutation_p.D467N|NF2_uc003agi.2_Missense_Mutation_p.D425N|NF2_uc003agj.2_Intron|NF2_uc003agk.2_Missense_Mutation_p.D470N|NF2_uc010gvp.1_Missense_Mutation_p.D172N	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	508					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.G502_I577del(1)|p.F507fs*5(1)|p.L127_D382del(1)|p.P483fs*17(1)|p.L140_P252del(1)		meninges(371)|soft_tissue(271)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	714										350				0.471545	330.235304	330.411326	116	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28404260	28404260	10757	22	G	A	A	37	37	NF2	A	1	1
ASCC2	84164	broad.mit.edu	36	22	28532231	28532231	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28532231G>T	uc003agr.1	-	c.1134C>A	c.(1132-1134)AGC>AGA	p.S378R	ASCC2_uc003ags.1_Non-coding_Transcript|ASCC2_uc003agt.1_Missense_Mutation_p.S378R	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0														0.234973	94.709294	106.490445	43	140	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		Missense_Mutation	SNP	28532231	28532231	1050	22	G	T	T	34	34	ASCC2	T	3	3
MTMR3	8897	broad.mit.edu	36	22	28728894	28728894	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28728894C>T	uc003agv.2	+	c.583C>T	c.(583-585)CTC>TTC	p.L195F	MTMR3_uc003agu.2_Missense_Mutation_p.L195F|MTMR3_uc003agw.2_Missense_Mutation_p.L195F	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	195	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|zinc ion binding			breast(3)|ovary(1)	4														0.157895	34.08478	48.935765	21	112	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		Missense_Mutation	SNP	28728894	28728894	10338	22	C	T	T	28	28	MTMR3	T	2	2
MTMR3	8897	broad.mit.edu	36	22	28745929	28745929	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28745929T>C	uc003agv.2	+	c.2281T>C	c.(2281-2283)TTC>CTC	p.F761L	MTMR3_uc003agu.2_Missense_Mutation_p.F761L|MTMR3_uc003agw.2_Missense_Mutation_p.F761L	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	761					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|zinc ion binding			breast(3)|ovary(1)	4														0.378007	358.601283	362.393484	110	181	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		Missense_Mutation	SNP	28745929	28745929	10338	22	T	C	C	60	60	MTMR3	C	4	4
MTMR3	8897	broad.mit.edu	36	22	28751685	28751685	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28751685C>T	uc003agv.2	+	c.3492C>T	c.(3490-3492)CTC>CTT	p.L1164L	MTMR3_uc003agu.2_Silent_p.L1136L|MTMR3_uc003agw.2_Silent_p.L1127L	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	1164	FYVE-type.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|zinc ion binding			breast(3)|ovary(1)	4														0.251282	119.273397	130.239474	49	146	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		Silent	SNP	28751685	28751685	10338	22	C	T	T	32	32	MTMR3	T	2	2
HORMAD2	150280	broad.mit.edu	36	22	28824971	28824971	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28824971G>A	uc003agy.1	+	c.182G>A	c.(181-183)CGC>CAC	p.R61H		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	61	HORMA.				mitosis						0														0.481132	139.006129	139.039388	51	55	GG		KEEP	---	---	---	---	capture	Epithelial(10;0.125)		Missense_Mutation	SNP	28824971	28824971	7579	22	G	A	A	38	38	HORMAD2	A	1	1
HORMAD2	150280	broad.mit.edu	36	22	28902149	28902149	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28902149G>T	uc003agy.1	+	c.917G>T	c.(916-918)AGA>ATA	p.R306I		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	306					mitosis						0														0.1875	26.171128	33.495015	15	65	GG		KEEP	---	---	---	---	capture	Epithelial(10;0.125)		Missense_Mutation	SNP	28902149	28902149	7579	22	G	T	T	33	33	HORMAD2	T	3	3
OSM	5008	broad.mit.edu	36	22	28990208	28990208	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28990208C>T	uc003ahb.1	-	c.423G>A	c.(421-423)CCG>CCA	p.P141P		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	141					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of acute inflammatory response|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding				0														0.465753	92.522376	92.598285	34	39	CC		KEEP	---	---	---	---	capture	Epithelial(10;0.206)		Silent	SNP	28990208	28990208	11702	22	C	T	T	31	31	OSM	T	1	1
GATSL3	652968	broad.mit.edu	36	22	29013192	29013192	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29013192G>A	uc003ahi.1	-	c.976C>T	c.(976-978)CCT>TCT	p.P326S	GATSL3_uc003ahc.1_Missense_Mutation_p.P153S|GATSL3_uc003ahe.1_Missense_Mutation_p.P153S|GATSL3_uc003ahd.1_Missense_Mutation_p.P153S|GATSL3_uc003ahf.1_Non-coding_Transcript|GATSL3_uc003ahg.1_Non-coding_Transcript|GATSL3_uc003ahh.1_Non-coding_Transcript|GATSL3_uc010gvq.1_Non-coding_Transcript|GATSL3_uc010gvr.1_Missense_Mutation_p.P40S|GATSL3_uc010gvs.1_Missense_Mutation_p.P40S	NM_031937	NP_114143	Q8WTX7	GATL3_HUMAN	TBC1 domain family, member 10A	153										breast(1)	1												OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.256198	74.033665	80.514034	31	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29013192	29013192	6531	22	G	A	A	42	42	GATSL3	A	2	2
CCDC157	550631	broad.mit.edu	36	22	29096747	29096747	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29096747C>T	uc003ahn.1	+	c.700C>T	c.(700-702)CGC>TGC	p.R234C		NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	hypothetical protein LOC550631	285	Potential.									central_nervous_system(1)	1														0.142857	6.82036	11.987747	6	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29096747	29096747	2911	22	C	T	T	27	27	CCDC157	T	1	1
CCDC157	550631	broad.mit.edu	36	22	29099972	29099972	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29099972C>T	uc003ahn.1	+	c.1411C>T	c.(1411-1413)CGG>TGG	p.R471W		NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	hypothetical protein LOC550631	522	Potential.									central_nervous_system(1)	1														0.45	49.647698	49.734121	18	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29099972	29099972	2911	22	C	T	T	27	27	CCDC157	T	1	1
SEC14L4	284904	broad.mit.edu	36	22	29216219	29216219	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29216219C>T	uc003aid.1	-	c.1096G>A	c.(1096-1098)GAC>AAC	p.D366N	SEC14L4_uc003aie.1_Missense_Mutation_p.D351N|SEC14L4_uc003aif.1_Silent_p.S326S	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity				0					Vitamin E(DB00163)									0.180412	64.022943	82.645853	35	159	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29216219	29216219	14470	22	C	T	T	31	31	SEC14L4	T	1	1
SEC14L4	284904	broad.mit.edu	36	22	29218528	29218528	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29218528G>A	uc003aid.1	-	c.597C>T	c.(595-597)CCC>CCT	p.P199P	SEC14L4_uc003aie.1_Silent_p.P184P|SEC14L4_uc003aif.1_Silent_p.P145P	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3	199	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity				0					Vitamin E(DB00163)									0.5	132.523157	132.523157	43	43	GG		KEEP	---	---	---	---	capture			Silent	SNP	29218528	29218528	14470	22	G	A	A	39	39	SEC14L4	A	1	1
SEC14L4	284904	broad.mit.edu	36	22	29220140	29220140	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29220140G>A	uc003aid.1	-	c.577C>T	c.(577-579)CGA>TGA	p.R193*	SEC14L4_uc003aie.1_Nonsense_Mutation_p.R178*|SEC14L4_uc003aif.1_Nonsense_Mutation_p.R139*	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3	193	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity				0					Vitamin E(DB00163)									0.241379	63.568676	70.629478	28	88	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	29220140	29220140	14470	22	G	A	A	37	37	SEC14L4	A	5	1
TCN2	6948	broad.mit.edu	36	22	29349058	29349058	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29349058C>A	uc003aip.1	+	c.1210C>A	c.(1210-1212)CCA>ACA	p.P404T	TCN2_uc003aiq.1_Missense_Mutation_p.P400T|TCN2_uc003air.1_Missense_Mutation_p.P377T	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	404					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.392405	154.990293	156.598546	62	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29349058	29349058	16233	22	C	A	A	22	22	TCN2	A	3	3
OSBP2	23762	broad.mit.edu	36	22	29467214	29467214	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29467214G>A	uc003aiy.1	+	c.711G>A	c.(709-711)ACG>ACA	p.T237T	OSBP2_uc010gwc.1_Silent_p.T64T|OSBP2_uc003aix.1_Silent_p.T237T|OSBP2_uc003aiz.1_Silent_p.T237T	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	237	PH.				lipid transport	membrane	lipid binding			breast(1)	1														0.5	198.696185	198.696185	64	64	GG		KEEP	---	---	---	---	capture			Silent	SNP	29467214	29467214	11685	22	G	A	A	39	39	OSBP2	A	1	1
OSBP2	23762	broad.mit.edu	36	22	29613464	29613464	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29613464C>T	uc003aiy.1	+	c.1159C>T	c.(1159-1161)CGG>TGG	p.R387W	OSBP2_uc010gwc.1_Missense_Mutation_p.R214W|OSBP2_uc003aiz.1_Missense_Mutation_p.R387W|OSBP2_uc003aja.1_Missense_Mutation_p.R21W|OSBP2_uc003ajb.1_5'UTR|OSBP2_uc010gwd.1_5'UTR	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	387					lipid transport	membrane	lipid binding			breast(1)	1														0.459627	203.126216	203.354639	74	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29613464	29613464	11685	22	C	T	T	27	27	OSBP2	T	1	1
SMTN	6525	broad.mit.edu	36	22	29817140	29817140	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29817140C>A	uc003ajm.1	+	c.1131C>A	c.(1129-1131)TCC>TCA	p.S377S	SMTN_uc003ajk.1_Silent_p.S377S|SMTN_uc003ajl.1_Silent_p.S377S|SMTN_uc003ajn.1_Silent_p.S369S|SMTN_uc003ajo.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_134270	NP_599032	P53814	SMTN_HUMAN	smoothelin isoform a	377					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3														0.522388	189.429157	189.486367	70	64	CC		KEEP	---	---	---	---	capture			Silent	SNP	29817140	29817140	15314	22	C	A	A	24	24	SMTN	A	3	3
SELM	140606	broad.mit.edu	36	22	29830983	29830983	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29830983C>A	uc003ajq.1	-	c.411G>T	c.(409-411)GAG>GAT	p.E137D	INPP5J_uc010gwf.1_5'Flank	NM_080430	NP_536355	Q8WWX9	SELM_HUMAN	selenoprotein M precursor	137						endoplasmic reticulum|Golgi apparatus|nucleus|perinuclear region of cytoplasm					0														0.265306	29.148743	31.591198	13	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29830983	29830983	14503	22	C	A	A	24	24	SELM	A	3	3
INPP5J	27124	broad.mit.edu	36	22	29852434	29852434	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29852434C>T	uc003aju.2	+	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	INPP5J_uc010gwf.1_Silent_p.G448G|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajv.2_Silent_p.G81G|INPP5J_uc003ajs.2_Silent_p.G81G|INPP5J_uc010gwg.1_Silent_p.G13G|INPP5J_uc003ajt.2_Silent_p.G80G|INPP5J_uc003ajx.1_5'Flank|INPP5J_uc003ajy.1_5'Flank|INPP5J_uc003ajz.1_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	448	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1														0.175896	86.565587	116.989631	54	253	CC		KEEP	---	---	---	---	capture			Silent	SNP	29852434	29852434	8060	22	C	T	T	27	27	INPP5J	T	1	1
INPP5J	27124	broad.mit.edu	36	22	29853936	29853936	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29853936G>T	uc003aju.2	+	c.1788_splice	c.e7-1	p.D596_splice	INPP5J_uc003ajw.2_Splice_Site_SNP_p.D32_splice|INPP5J_uc003ajv.2_Splice_Site_SNP_p.D229_splice|INPP5J_uc003ajs.2_Splice_Site_SNP_p.D229_splice|INPP5J_uc010gwg.1_Splice_Site_SNP_p.D161_splice|INPP5J_uc003ajt.2_Splice_Site_SNP_p.D228_splice|INPP5J_uc003ajx.1_5'UTR|INPP5J_uc003ajy.1_5'UTR|INPP5J_uc003ajz.1_5'UTR	NM_001002837	NP_001002837			phosphatidylinositol (4,5) bisphosphate							cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1														0.164179	17.378991	24.559833	11	56	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	29853936	29853936	8060	22	G	T	T	34	34	INPP5J	T	5	3
PLA2G3	50487	broad.mit.edu	36	22	29865886	29865886	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29865886G>T	uc003aka.1	-	c.455C>A	c.(454-456)ACC>AAC	p.T152N		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	152	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0														0.132812	20.897318	37.64909	17	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29865886	29865886	12426	22	G	T	T	44	44	PLA2G3	T	3	3
PLA2G3	50487	broad.mit.edu	36	22	29866314	29866314	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29866314C>T	uc003aka.1	-	c.27G>A	c.(25-27)GGG>GGA	p.G9G		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	9					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0														0.471429	183.140653	183.239105	66	74	CC		KEEP	---	---	---	---	capture			Silent	SNP	29866314	29866314	12426	22	C	T	T	30	30	PLA2G3	T	2	2
LIMK2	3985	broad.mit.edu	36	22	30001136	30001136	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30001136G>T	uc003akj.1	+	c.1552_splice	c.e14-1	p.I518_splice	LIMK2_uc003akg.1_Splice_Site_SNP_p.I456_splice|LIMK2_uc003akh.1_Splice_Site_SNP_p.I539_splice|LIMK2_uc003aki.1_Splice_Site_SNP_p.I293_splice|LIMK2_uc003akk.1_Splice_Site_SNP_p.I518_splice	NM_001031801	NP_001026971			LIM domain kinase 2 isoform 1						protein phosphorylation	mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2										431				0.390533	343.386858	346.945494	132	206	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	30001136	30001136	9128	22	G	T	T	33	33	LIMK2	T	5	3
PATZ1	23598	broad.mit.edu	36	22	30054885	30054885	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30054885C>T	uc003akq.1	-	c.1533G>A	c.(1531-1533)AAG>AAA	p.K511K	PATZ1_uc003akp.1_Intron|PATZ1_uc003akr.1_Intron	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	511	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2										104				0.434783	91.39843	91.659591	30	39	CC		KEEP	---	---	---	---	capture			Silent	SNP	30054885	30054885	11896	22	C	T	T	24	24	PATZ1	T	2	2
SFI1	9814	broad.mit.edu	36	22	30234359	30234359	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30234359C>T	uc003ale.1	+	c.89C>T	c.(88-90)TCC>TTC	p.S30F	SFI1_uc003ald.1_Missense_Mutation_p.S30F|SFI1_uc003alf.1_Missense_Mutation_p.S30F|SFI1_uc003alg.1_Missense_Mutation_p.S30F|SFI1_uc003alh.1_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	30					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1														0.525253	159.801167	159.855891	52	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30234359	30234359	14645	22	C	T	T	30	30	SFI1	T	2	2
SFI1	9814	broad.mit.edu	36	22	30306319	30306319	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30306319G>T	uc003ale.1	+	c.1217G>T	c.(1216-1218)AGG>ATG	p.R406M	SFI1_uc003ald.1_Missense_Mutation_p.R382M|SFI1_uc003alf.1_Intron|SFI1_uc003alg.1_Missense_Mutation_p.R324M|SFI1_uc003alh.1_Non-coding_Transcript|SFI1_uc010gwi.1_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	406	HAT 5.				G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1														0.256	75.134817	81.888883	32	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30306319	30306319	14645	22	G	T	T	35	35	SFI1	T	3	3
SFI1	9814	broad.mit.edu	36	22	30311079	30311079	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30311079G>A	uc003ale.1	+	c.1372G>A	c.(1372-1374)GAA>AAA	p.E458K	SFI1_uc003ald.1_Missense_Mutation_p.E434K|SFI1_uc003alf.1_Missense_Mutation_p.E427K|SFI1_uc003alg.1_Missense_Mutation_p.E376K|SFI1_uc003alh.1_Non-coding_Transcript|SFI1_uc010gwi.1_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	458					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1														0.20098	83.558548	100.517719	41	163	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30311079	30311079	14645	22	G	A	A	37	37	SFI1	A	1	1
PISD	23761	broad.mit.edu	36	22	30346667	30346667	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30346667G>A	uc003alm.2	-	c.877C>T	c.(877-879)CGC>TGC	p.R293C	PISD_uc003alk.1_Missense_Mutation_p.R259C|PISD_uc003all.1_Intron|PISD_uc003aln.2_Intron	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	293					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			ovary(1)|central_nervous_system(1)	2					Phosphatidylserine(DB00144)									0.539216	154.621597	154.75771	55	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30346667	30346667	12370	22	G	A	A	37	37	PISD	A	1	1
DEPDC5	9681	broad.mit.edu	36	22	30569728	30569728	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30569728G>A	uc003alt.1	+	c.2704G>A	c.(2704-2706)GAA>AAA	p.E902K	DEPDC5_uc003als.1_Missense_Mutation_p.E902K|DEPDC5_uc003alu.1_Missense_Mutation_p.E351K|DEPDC5_uc003alv.1_Non-coding_Transcript|DEPDC5_uc003alw.1_Missense_Mutation_p.E200K|DEPDC5_uc010gwk.1_5'Flank	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	902					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8														0.21393	86.90654	102.111895	43	158	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30569728	30569728	4621	22	G	A	A	37	37	DEPDC5	A	1	1
C22orf24	25775	broad.mit.edu	36	22	30660210	30660210	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30660210G>A	uc003aly.1	-	c.377C>T	c.(376-378)TCG>TTG	p.S126L	C22orf24_uc003alx.1_Non-coding_Transcript	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	hypothetical protein LOC25775	126						integral to membrane				central_nervous_system(1)	1														0.6	25.976846	26.108264	9	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30660210	30660210	2218	22	G	A	A	37	37	C22orf24	A	1	1
SLC5A1	6523	broad.mit.edu	36	22	30812250	30812250	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30812250C>T	uc003amc.1	+	c.1065C>T	c.(1063-1065)TGC>TGT	p.C355C		NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	355	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding				0														0.403042	289.298722	291.458863	106	157	CC		KEEP	---	---	---	---	capture			Silent	SNP	30812250	30812250	15158	22	C	T	T	27	27	SLC5A1	T	1	1
RFPL2	10739	broad.mit.edu	36	22	30917298	30917298	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30917298G>T	uc003amg.2	-	c.598C>A	c.(598-600)CTC>ATC	p.L200I	RFPL2_uc003ame.2_Missense_Mutation_p.L139I|RFPL2_uc003amf.2_Missense_Mutation_p.L110I|RFPL2_uc003amh.2_Missense_Mutation_p.L110I	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	200	B30.2/SPRY.						zinc ion binding				0														0.23431	118.913638	134.420476	56	183	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30917298	30917298	13725	22	G	T	T	35	35	RFPL2	T	3	3
SLC5A4	6527	broad.mit.edu	36	22	30955221	30955221	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30955221G>A	uc003ami.1	-	c.1240C>T	c.(1240-1242)CGG>TGG	p.R414W		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	414	Extracellular (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0														0.221402	121.952764	141.319108	60	211	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30955221	30955221	15164	22	G	A	A	38	38	SLC5A4	A	1	1
RFPL3	10738	broad.mit.edu	36	22	31084338	31084338	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:31084338C>T	uc003amj.1	+	c.280C>T	c.(280-282)CGG>TGG	p.R94W	RFPL3_uc010gwn.1_Missense_Mutation_p.R65W	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	ret finger protein-like 3 isoform 1	94							zinc ion binding			ovary(1)	1														0.26087	139.499268	151.403371	60	170	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31084338	31084338	13726	22	C	T	T	31	31	RFPL3	T	1	1
BPIL2	254240	broad.mit.edu	36	22	31141978	31141978	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:31141978G>A	uc003amn.1	-	c.1325C>T	c.(1324-1326)GCA>GTA	p.A442V	BPIL2_uc010gwo.1_Missense_Mutation_p.A199V	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	442						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)	1														0.492308	90.091834	90.095294	32	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31141978	31141978	1520	22	G	A	A	46	46	BPIL2	A	2	2
TIMP3	7078	broad.mit.edu	36	22	31584100	31584100	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:31584100G>A	uc003anb.1	+	c.413G>A	c.(412-414)CGG>CAG	p.R138Q	SYN3_uc003amx.1_Intron|SYN3_uc003amy.1_Intron|SYN3_uc003amz.1_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	tissue inhibitor of metalloproteinase 3	138	NTR.|Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			lung(1)	1										10				0.415584	192.105936	193.054408	64	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31584100	31584100	16448	22	G	A	A	39	39	TIMP3	A	1	1
SYN3	8224	broad.mit.edu	36	22	31732533	31732533	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:31732533C>T	uc003amx.1	-	c.115G>A	c.(115-117)GCC>ACC	p.A39T	SYN3_uc003amy.1_Missense_Mutation_p.A39T|SYN3_uc003amz.1_Missense_Mutation_p.A39T	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	39	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity				0										35				0.445312	293.801761	294.468306	114	142	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31732533	31732533	15963	22	C	T	T	27	27	SYN3	T	1	1
TOM1	10043	broad.mit.edu	36	22	34064771	34064771	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:34064771G>T	uc003anp.1	+	c.1214G>T	c.(1213-1215)AGC>ATC	p.S405I	TOM1_uc003ann.1_Missense_Mutation_p.S405I|TOM1_uc003ano.1_Non-coding_Transcript|TOM1_uc003anq.1_Missense_Mutation_p.S399I|TOM1_uc003anr.1_Missense_Mutation_p.S248I|TOM1_uc003ans.1_Missense_Mutation_p.S248I	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	405					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1														0.214286	6.319099	7.37335	3	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34064771	34064771	16892	22	G	T	T	34	34	TOM1	T	3	3
MCM5	4174	broad.mit.edu	36	22	34132676	34132676	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:34132676G>A	uc003anu.2	+	c.554G>A	c.(553-555)CGC>CAC	p.R185H	MCM5_uc010gwr.1_5'UTR|MCM5_uc003anv.2_Missense_Mutation_p.R142H|MCM5_uc010gws.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	185					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1														0.242991	53.093638	59.542261	26	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34132676	34132676	9779	22	G	A	A	38	38	MCM5	A	1	1
RASD2	23551	broad.mit.edu	36	22	34277722	34277722	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:34277722C>T	uc003anx.1	+	c.498C>T	c.(496-498)TGC>TGT	p.C166C	RASD2_uc003any.1_Silent_p.C166C	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2	166					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			skin(1)	1														0.217391	30.306017	35.375684	15	54	CC		KEEP	---	---	---	---	capture			Silent	SNP	34277722	34277722	13528	22	C	T	T	27	27	RASD2	T	1	1
APOL6	80830	broad.mit.edu	36	22	34384669	34384669	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:34384669G>A	uc003aoe.1	+	c.112G>A	c.(112-114)GAA>AAA	p.E38K	APOL6_uc003aod.2_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	38					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0														0.423358	160.926185	161.627802	58	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34384669	34384669	821	22	G	A	A	37	37	APOL6	A	1	1
MYH9	4627	broad.mit.edu	36	22	35014249	35014249	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35014249G>A	uc003apg.1	-	c.4927C>T	c.(4927-4929)CTG>TTG	p.L1643L		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1643	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	10										1624				0.489614	476.613771	476.646423	165	172	GG		KEEP	---	---	---	---	capture			Silent	SNP	35014249	35014249	10437	22	G	A	A	34	34	MYH9	A	2	2
MYH9	4627	broad.mit.edu	36	22	35024956	35024956	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35024956C>T	uc003apg.1	-	c.3055G>A	c.(3055-3057)GCC>ACC	p.A1019T		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1019	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	10										1624				0.240157	129.434512	145.104804	61	193	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35024956	35024956	10437	22	C	T	T	27	27	MYH9	T	1	1
MYH9	4627	broad.mit.edu	36	22	35046870	35046870	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35046870G>A	uc003apg.1	-	c.787C>T	c.(787-789)CGT>TGT	p.R263C	MYH9_uc003aph.1_Missense_Mutation_p.R127C	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	263	Myosin head-like.				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)|lung(1)|skin(1)|kidney(1)|pancreas(1)	10										1624				0.244898	24.468545	27.3811	12	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35046870	35046870	10437	22	G	A	A	37	37	MYH9	A	1	1
FOXRED2	80020	broad.mit.edu	36	22	35224016	35224016	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35224016G>A	uc003apn.2	-	c.1350C>T	c.(1348-1350)TTC>TTT	p.F450F	FOXRED2_uc003apm.2_Silent_p.F2F|FOXRED2_uc003apo.2_Silent_p.F450F|FOXRED2_uc003app.2_Silent_p.F450F	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing	450					ER-associated protein catabolic process|oxidation-reduction process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2														0.431655	160.906153	161.464315	60	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	35224016	35224016	6280	22	G	A	A	37	37	FOXRED2	A	1	1
EIF3D	8664	broad.mit.edu	36	22	35249946	35249946	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35249946G>A	uc003apq.1	-	c.334C>T	c.(334-336)CGG>TGG	p.R112W	EIF3D_uc003apr.1_Missense_Mutation_p.R112W	NM_003753	NP_003744	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3	112						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			pancreas(1)	1														0.401544	281.222314	283.424078	104	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35249946	35249946	5205	22	G	A	A	37	37	EIF3D	A	1	1
CSF2RB	1439	broad.mit.edu	36	22	35651996	35651996	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35651996C>A	uc003aqc.2	+	c.222C>A	c.(220-222)TCC>TCA	p.S74S	CSF2RB_uc003aqa.2_Silent_p.S74S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	74	Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			pancreas(1)	1					Sargramostim(DB00020)									0.442623	149.476728	149.834557	54	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	35651996	35651996	4076	22	C	A	A	24	24	CSF2RB	A	3	3
CSF2RB	1439	broad.mit.edu	36	22	35658849	35658849	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35658849A>G	uc003aqc.2	+	c.1127A>G	c.(1126-1128)CAC>CGC	p.H376R	CSF2RB_uc003aqa.2_Missense_Mutation_p.H370R	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	370	Extracellular (Potential).|Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			pancreas(1)	1					Sargramostim(DB00020)									0.169231	19.988476	26.718555	11	54	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35658849	35658849	4076	22	A	G	G	6	6	CSF2RB	G	4	4
CSF2RB	1439	broad.mit.edu	36	22	35662546	35662546	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35662546G>A	uc003aqc.2	+	c.1492G>A	c.(1492-1494)GCA>ACA	p.A498T	CSF2RB_uc003aqa.2_Missense_Mutation_p.A492T	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	492	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			pancreas(1)	1					Sargramostim(DB00020)									0.227941	64.15638	73.394557	31	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35662546	35662546	4076	22	G	A	A	38	38	CSF2RB	A	1	1
C22orf33	339669	broad.mit.edu	36	22	35717531	35717531	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35717531C>A	uc003aqf.1	-	c.682G>T	c.(682-684)GAG>TAG	p.E228*	C22orf33_uc003aqe.1_Nonsense_Mutation_p.E143*	NM_178552	NP_848647	O43247	EAN57_HUMAN	hypothetical protein LOC339669	228											0														0.407125	419.480435	422.453251	160	233	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	35717531	35717531	2226	22	C	A	A	32	32	C22orf33	A	5	3
KCTD17	79734	broad.mit.edu	36	22	35779130	35779130	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35779130C>T	uc010gxb.1	+	c.234C>T	c.(232-234)TTC>TTT	p.F78F	KCTD17_uc010gxa.1_Silent_p.F78F|KCTD17_uc003aqq.2_Silent_p.F78F|KCTD17_uc010gxc.1_Silent_p.F78F	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerisation domain	85	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0														0.666667	39.148276	39.662764	14	7	CC		KEEP	---	---	---	---	capture			Silent	SNP	35779130	35779130	8410	22	C	T	T	31	31	KCTD17	T	1	1
TMPRSS6	164656	broad.mit.edu	36	22	35824484	35824484	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35824484A>G	uc003aqt.1	-	c.254T>C	c.(253-255)GTA>GCA	p.V85A	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V94A|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V85A	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	94	Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)	5														0.208065	318.696267	367.591228	129	491	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35824484	35824484	16792	22	A	G	G	14	14	TMPRSS6	G	4	4
SSTR3	6753	broad.mit.edu	36	22	35932580	35932580	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35932580C>T	uc003ara.1	-	c.1209G>A	c.(1207-1209)GAG>GAA	p.E403E	SSTR3_uc003arb.1_Silent_p.E403E|SSTR3_uc010gxd.1_Silent_p.E403E	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	403	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity				0														0.179012	55.156988	70.896284	29	133	CC		KEEP	---	---	---	---	capture			Silent	SNP	35932580	35932580	15715	22	C	T	T	24	24	SSTR3	T	2	2
SSTR3	6753	broad.mit.edu	36	22	35933035	35933035	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35933035C>T	uc003ara.1	-	c.754G>A	c.(754-756)GAA>AAA	p.E252K	SSTR3_uc003arb.1_Missense_Mutation_p.E252K|SSTR3_uc010gxd.1_Missense_Mutation_p.E252K	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	252	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity				0														0.189189	24.805345	31.498219	14	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35933035	35933035	15715	22	C	T	T	31	31	SSTR3	T	1	1
SSTR3	6753	broad.mit.edu	36	22	35933476	35933476	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35933476C>T	uc003ara.1	-	c.313G>A	c.(313-315)GCC>ACC	p.A105T	SSTR3_uc003arb.1_Missense_Mutation_p.A105T|SSTR3_uc010gxd.1_Missense_Mutation_p.A105T	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	105	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity				0														0.1625	34.849277	52.191017	26	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35933476	35933476	15715	22	C	T	T	27	27	SSTR3	T	1	1
GGA1	26088	broad.mit.edu	36	22	36349404	36349404	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36349404G>A	uc003atc.1	+	c.734G>A	c.(733-735)AGC>AAC	p.S245N	GGA1_uc003atd.1_Missense_Mutation_p.S245N|GGA1_uc003ate.1_Missense_Mutation_p.S245N|GGA1_uc003atf.1_Missense_Mutation_p.S172N	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	245	Interaction with ARF3.|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.191781	76.743459	96.170054	42	177	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36349404	36349404	6620	22	G	A	A	34	34	GGA1	A	2	2
LGALS1	3956	broad.mit.edu	36	22	36405610	36405610	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36405610G>A	uc003atn.1	+	c.316G>A	c.(316-318)GAA>AAA	p.E106K		NM_002305	NP_002296	P09382	LEG1_HUMAN	galectin-1	106	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity				0	Melanoma(58;0.0574)					Pancreas(23;406 890 14304 26016)								0.208092	72.715972	86.36423	36	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36405610	36405610	9063	22	G	A	A	37	37	LGALS1	A	1	1
LGALS1	3956	broad.mit.edu	36	22	36405691	36405691	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36405691G>A	uc003atn.1	+	c.397G>A	c.(397-399)GCC>ACC	p.A133T		NM_002305	NP_002296	P09382	LEG1_HUMAN	galectin-1	133	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity				0	Melanoma(58;0.0574)					Pancreas(23;406 890 14304 26016)								0.470149	168.637902	168.737751	63	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36405691	36405691	9063	22	G	A	A	42	42	LGALS1	A	2	2
TRIOBP	11078	broad.mit.edu	36	22	36450956	36450956	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36450956G>T	uc003att.1	+	c.2447G>T	c.(2446-2448)AGA>ATA	p.R816I	TRIOBP_uc003atq.1_Missense_Mutation_p.R816I|TRIOBP_uc003atr.1_Missense_Mutation_p.R816I|TRIOBP_uc003ats.1_Missense_Mutation_p.R644I|TRIOBP_uc003atu.1_Missense_Mutation_p.R644I	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	816					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)													0.428571	198.474858	199.25746	75	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36450956	36450956	17103	22	G	T	T	33	33	TRIOBP	T	3	3
TRIOBP	11078	broad.mit.edu	36	22	36451137	36451137	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36451137G>T	uc003att.1	+	c.2628G>T	c.(2626-2628)GAG>GAT	p.E876D	TRIOBP_uc003atq.1_Missense_Mutation_p.E876D|TRIOBP_uc003atr.1_Missense_Mutation_p.E876D|TRIOBP_uc003ats.1_Missense_Mutation_p.E704D|TRIOBP_uc003atu.1_Missense_Mutation_p.E704D	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	876					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)													0.231198	167.697245	191.50942	83	276	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36451137	36451137	17103	22	G	T	T	33	33	TRIOBP	T	3	3
TRIOBP	11078	broad.mit.edu	36	22	36451442	36451442	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36451442C>A	uc003att.1	+	c.2933C>A	c.(2932-2934)TCT>TAT	p.S978Y	TRIOBP_uc003atq.1_Missense_Mutation_p.S978Y|TRIOBP_uc003atr.1_Missense_Mutation_p.S978Y|TRIOBP_uc003ats.1_Missense_Mutation_p.S806Y|TRIOBP_uc003atu.1_Missense_Mutation_p.S806Y	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	978					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)													0.266949	271.894505	295.085179	126	346	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36451442	36451442	17103	22	C	A	A	32	32	TRIOBP	A	3	3
TRIOBP	11078	broad.mit.edu	36	22	36495097	36495097	+	Missense_Mutation	SNP	G	A	A	rs61729062	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36495097G>A	uc003att.1	+	c.6692G>A	c.(6691-6693)CGC>CAC	p.R2231H	TRIOBP_uc003atu.1_Missense_Mutation_p.R2059H|TRIOBP_uc003atw.1_Missense_Mutation_p.R518H|TRIOBP_uc003atx.1_Missense_Mutation_p.R114H|TRIOBP_uc010gxh.1_Missense_Mutation_p.R114H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2231	Potential.				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)													0.173077	11.393185	16.615904	9	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36495097	36495097	17103	22	G	A	A	38	38	TRIOBP	A	1	1
TRIOBP	11078	broad.mit.edu	36	22	36495292	36495292	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36495292C>T	uc003att.1	+	c.6813C>T	c.(6811-6813)TGC>TGT	p.C2271C	TRIOBP_uc003atu.1_Silent_p.C2099C|TRIOBP_uc003atw.1_Silent_p.C558C|TRIOBP_uc003atx.1_Silent_p.C154C|TRIOBP_uc010gxh.1_Silent_p.C154C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2271					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)													0.25	14.711352	16.303033	7	21	CC		KEEP	---	---	---	---	capture			Silent	SNP	36495292	36495292	17103	22	C	T	T	27	27	TRIOBP	T	1	1
H1F0	3005	broad.mit.edu	36	22	36531567	36531567	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36531567G>T	uc003aty.1	+	c.70G>T	c.(70-72)GAC>TAC	p.D24Y	GCAT_uc003atz.1_5'Flank|GCAT_uc003aua.1_5'Flank	NM_005318	NP_005309	P07305	H10_HUMAN	H1 histone family, member 0	24	H15.				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding				0	Melanoma(58;0.045)					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)								0.251969	63.115018	70.235324	32	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36531567	36531567	7200	22	G	T	T	33	33	H1F0	T	3	3
GCAT	23464	broad.mit.edu	36	22	36536112	36536112	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36536112T>C	uc003aua.1	+	c.405_splice	c.e2+2	p.Q135_splice	GCAT_uc003atz.1_Splice_Site_SNP_p.Q109_splice	NM_014291	NP_055106			glycine C-acetyltransferase precursor						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)									0.244147	197.893705	215.682499	73	226	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	36536112	36536112	6550	22	T	C	C	57	57	GCAT	C	5	4
EIF3L	51386	broad.mit.edu	36	22	36589280	36589280	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36589280C>T	uc003auf.1	+	c.561C>T	c.(559-561)ATC>ATT	p.I187I	EIF3L_uc003aue.1_Silent_p.I187I|EIF3L_uc003aug.1_Silent_p.I79I	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	187						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1														0.283582	140.687804	149.14459	57	144	CC		KEEP	---	---	---	---	capture			Silent	SNP	36589280	36589280	5213	22	C	T	T	31	31	EIF3L	T	1	1
PICK1	9463	broad.mit.edu	36	22	36799025	36799025	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36799025G>A	uc003auq.1	+	c.763G>A	c.(763-765)GAC>AAC	p.D255N	PICK1_uc003aur.1_Missense_Mutation_p.D255N|PICK1_uc003aus.1_Missense_Mutation_p.D255N|PICK1_uc003aut.1_Missense_Mutation_p.D255N	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	255	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)													0.491979	263.179096	263.189817	92	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36799025	36799025	12305	22	G	A	A	41	41	PICK1	A	2	2
SLC16A8	23539	broad.mit.edu	36	22	36804388	36804388	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36804388C>T	uc003auu.1	-	c.1468G>A	c.(1468-1470)GAA>AAA	p.E490K		NM_013356	NP_037488	O95907	MOT3_HUMAN	solute carrier family 16, member 8	490	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity				0	Melanoma(58;0.045)				Pyruvic acid(DB00119)									0.42487	232.190403	233.145861	82	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36804388	36804388	14910	22	C	T	T	32	32	SLC16A8	T	2	2
PLA2G6	8398	broad.mit.edu	36	22	36871555	36871555	+	Nonsense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36871555A>C	uc003auy.1	-	c.261T>G	c.(259-261)TAT>TAG	p.Y87*	PLA2G6_uc003auz.1_Nonsense_Mutation_p.Y87*|PLA2G6_uc003ava.1_Nonsense_Mutation_p.Y87*|PLA2G6_uc003avb.2_Nonsense_Mutation_p.Y87*|PLA2G6_uc010gxk.1_Intron	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	87					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)									0.204545	22.479609	26.021457	9	35	AA		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	36871555	36871555	12434	22	A	C	C	4	4	PLA2G6	C	5	4
KCNJ4	3761	broad.mit.edu	36	22	37153314	37153314	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37153314G>A	uc003avs.1	-	c.770C>T	c.(769-771)TCG>TTG	p.S257L	KCNJ4_uc003avt.1_Missense_Mutation_p.S257L|KCNJ4_uc010gxo.1_Missense_Mutation_p.S257L	NM_004981	NP_690607	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	257	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)													0.214286	50.078258	58.494288	24	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37153314	37153314	8358	22	G	A	A	37	37	KCNJ4	A	1	1
KCNJ4	3761	broad.mit.edu	36	22	37153388	37153388	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37153388G>A	uc003avs.1	-	c.696C>T	c.(694-696)GGC>GGT	p.G232G	KCNJ4_uc003avt.1_Silent_p.G232G|KCNJ4_uc010gxo.1_Silent_p.G232G	NM_004981	NP_690607	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	232	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)													0.227273	43.302019	50.838295	25	85	GG		KEEP	---	---	---	---	capture			Silent	SNP	37153388	37153388	8358	22	G	A	A	38	38	KCNJ4	A	1	1
DDX17	10521	broad.mit.edu	36	22	37212372	37212372	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37212372C>T	uc003avy.2	-	c.1710G>A	c.(1708-1710)CGG>CGA	p.R570R	DDX17_uc003avx.2_Silent_p.R568R|DDX17_uc003avw.2_Silent_p.R22R|DDX17_uc010gxp.1_Silent_p.R20R	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	489					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(1)	1	Melanoma(58;0.0286)					Ovarian(55;1085 1454 6392 21425)								0.184211	26.406154	33.516871	14	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	37212372	37212372	4515	22	C	T	T	30	30	DDX17	T	2	2
DDX17	10521	broad.mit.edu	36	22	37224098	37224098	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37224098G>A	uc003avy.2	-	c.676C>T	c.(676-678)CTC>TTC	p.L226F	DDX17_uc003avx.2_Missense_Mutation_p.L226F	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	147	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(1)	1	Melanoma(58;0.0286)					Ovarian(55;1085 1454 6392 21425)								0.160377	27.501921	39.148692	17	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37224098	37224098	4515	22	G	A	A	33	33	DDX17	A	2	2
DDX17	10521	broad.mit.edu	36	22	37224408	37224408	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37224408A>G	uc003avy.2	-	c.655T>C	c.(655-657)TCT>CCT	p.S219P	DDX17_uc003avx.2_Missense_Mutation_p.S219P	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	140	ATP (By similarity).|Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(1)	1	Melanoma(58;0.0286)					Ovarian(55;1085 1454 6392 21425)								0.233503	119.46497	132.262178	46	151	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37224408	37224408	4515	22	A	G	G	11	11	DDX17	G	4	4
CBY1	25776	broad.mit.edu	36	22	37396841	37396841	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37396841C>T	uc003awb.1	+	c.85C>T	c.(85-87)CGA>TGA	p.R29*	CBY1_uc003awc.1_Nonsense_Mutation_p.R29*	NM_001002880	NP_056188	Q9Y3M2	CBY1_HUMAN	PKD2 interactor, golgi and endoplasmic reticulum	29					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			ovary(1)	1	Melanoma(58;0.04)													0.178947	90.352684	118.007854	51	234	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	37396841	37396841	2844	22	C	T	T	31	31	CBY1	T	5	1
TOMM22	56993	broad.mit.edu	36	22	37409721	37409721	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37409721C>A	uc003awe.1	+	c.358C>A	c.(358-360)CTT>ATT	p.L120I		NM_020243	NP_064628	Q9NS69	TOM22_HUMAN	mitochondrial import receptor Tom22	120	Mitochondrial intermembrane (Potential).				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity				0	Melanoma(58;0.04)													0.412903	193.77133	194.798281	64	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37409721	37409721	16897	22	C	A	A	20	20	TOMM22	A	3	3
GTPBP1	9567	broad.mit.edu	36	22	37456646	37456646	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37456646C>T	uc003awg.1	+	c.2001C>T	c.(1999-2001)AGC>AGT	p.S667S		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	667					immune response|signal transduction		GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)													0.214286	18.053315	21.219362	9	33	CC		KEEP	---	---	---	---	capture			Silent	SNP	37456646	37456646	7158	22	C	T	T	27	27	GTPBP1	T	1	1
NPTXR	23467	broad.mit.edu	36	22	37548590	37548590	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37548590G>A	uc003awk.1	-	c.1473C>T	c.(1471-1473)TTC>TTT	p.F491F		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	491	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					Pancreas(139;2521 3281 36965)								0.458333	61.951626	62.023004	22	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	37548590	37548590	11009	22	G	A	A	37	37	NPTXR	A	1	1
NPTXR	23467	broad.mit.edu	36	22	37548707	37548707	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37548707G>A	uc003awk.1	-	c.1356C>T	c.(1354-1356)GCC>GCT	p.A452A		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	452	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					Pancreas(139;2521 3281 36965)								0.164179	21.390937	28.559553	11	56	GG		KEEP	---	---	---	---	capture			Silent	SNP	37548707	37548707	11009	22	G	A	A	43	43	NPTXR	A	2	2
CBX6	23466	broad.mit.edu	36	22	37592925	37592925	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37592925G>T	uc003awl.1	-	c.474C>A	c.(472-474)CGC>CGA	p.R158R		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	158					chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	chromatin binding				0	Melanoma(58;0.04)													0.170732	10.492539	14.708365	7	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	37592925	37592925	2841	22	G	T	T	46	46	CBX6	T	3	3
APOBEC3F	200316	broad.mit.edu	36	22	37768982	37768982	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37768982G>A	uc003aww.1	+	c.112G>A	c.(112-114)GAA>AAA	p.E38K	APOBEC3F_uc010gxv.1_Intron|APOBEC3F_uc003awv.1_Missense_Mutation_p.E38K	NM_145298	NP_660341	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	38					base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|positive regulation of defense response to virus by host|response to virus|transcription, RNA-dependent|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding				0	Melanoma(58;0.04)													0.408602	104.528906	105.208325	38	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37768982	37768982	804	22	G	A	A	37	37	APOBEC3F	A	1	1
APOBEC3G	60489	broad.mit.edu	36	22	37809751	37809751	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37809751G>T	uc003awx.1	+	c.651G>T	c.(649-651)GAG>GAT	p.E217D	APOBEC3G_uc003awy.1_Missense_Mutation_p.E150D	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	217					base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|positive regulation of defense response to virus by host|response to virus|transcription, RNA-dependent|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(58;0.04)													0.454545	174.844129	175.102932	65	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37809751	37809751	805	22	G	T	T	33	33	APOBEC3G	T	3	3
APOBEC3H	164668	broad.mit.edu	36	22	37827237	37827237	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37827237G>A	uc010gxw.1	+	c.200G>A	c.(199-201)GGA>GAA	p.G67E	APOBEC3H_uc003axa.2_5'Flank	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	67							hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Melanoma(58;0.04)													0.414773	207.740078	208.856813	73	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37827237	37827237	806	22	G	A	A	41	41	APOBEC3H	A	2	2
RPL3	6122	broad.mit.edu	36	22	38040681	38040681	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38040681C>T	uc003axi.1	-	c.805G>A	c.(805-807)GCT>ACT	p.A269T	RPL3_uc010gxx.1_Missense_Mutation_p.A217T|RPL3_uc003axg.1_Missense_Mutation_p.A217T|RPL3_uc003axh.1_Missense_Mutation_p.A220T|RPL3_uc003axj.1_Missense_Mutation_p.A117T|RPL3_uc003axk.1_Missense_Mutation_p.A117T	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	269					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)													0.415385	71.21202	71.618212	27	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38040681	38040681	14058	22	C	T	T	27	27	RPL3	T	1	1
MGAT3	4248	broad.mit.edu	36	22	38213969	38213969	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38213969G>A	uc003axv.2	+	c.671G>A	c.(670-672)CGC>CAC	p.R224H	MGAT3_uc010gxy.1_Missense_Mutation_p.R224H	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	224	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)													0.203125	23.533146	28.787555	13	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38213969	38213969	9934	22	G	A	A	38	38	MGAT3	A	1	1
CACNA1I	8911	broad.mit.edu	36	22	38360522	38360522	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38360522G>A	uc003ayc.1	+	c.587G>A	c.(586-588)CGG>CAG	p.R196Q	CACNA1I_uc003ayd.1_Missense_Mutation_p.R196Q|CACNA1I_uc003aye.2_Missense_Mutation_p.R111Q|CACNA1I_uc003ayf.2_Missense_Mutation_p.R111Q	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	196	I.|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)									0.219114	216.629698	247.807067	94	335	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38360522	38360522	2662	22	G	A	A	39	39	CACNA1I	A	1	1
CACNA1I	8911	broad.mit.edu	36	22	38408492	38408492	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38408492G>A	uc003ayc.1	+	c.5710G>A	c.(5710-5712)GAA>AAA	p.E1904K	CACNA1I_uc003ayd.1_Missense_Mutation_p.E1869K|CACNA1I_uc003aye.2_Missense_Mutation_p.E1819K|CACNA1I_uc003ayf.2_Missense_Mutation_p.E1784K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1904	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)									0.199095	84.16618	102.79869	44	177	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38408492	38408492	2662	22	G	A	A	37	37	CACNA1I	A	1	1
ENTHD1	150350	broad.mit.edu	36	22	38469993	38469993	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38469993G>A	uc003ayg.1	-	c.1461C>T	c.(1459-1461)AGC>AGT	p.S487S		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	487										ovary(2)	2	Melanoma(58;0.0749)													0.162651	44.169932	62.093229	27	139	GG		KEEP	---	---	---	---	capture			Silent	SNP	38469993	38469993	5330	22	G	A	A	42	42	ENTHD1	A	2	2
ENTHD1	150350	broad.mit.edu	36	22	38547066	38547066	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38547066T>C	uc003ayg.1	-	c.712_splice	c.e5-1	p.D238_splice		NM_152512	NP_689725			ENTH domain containing 1											ovary(2)	2	Melanoma(58;0.0749)													0.3	63.970491	66.828648	24	56	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	38547066	38547066	5330	22	T	C	C	55	55	ENTHD1	C	5	4
ENTHD1	150350	broad.mit.edu	36	22	38613694	38613694	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38613694G>A	uc003ayg.1	-	c.5C>T	c.(4-6)GCG>GTG	p.A2V		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	2										ovary(2)	2	Melanoma(58;0.0749)													0.402985	140.908877	142.01518	54	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38613694	38613694	5330	22	G	A	A	38	38	ENTHD1	A	1	1
GRAP2	9402	broad.mit.edu	36	22	38686041	38686041	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38686041G>T	uc003ayh.1	+	c.207G>T	c.(205-207)GAG>GAT	p.E69D	GRAP2_uc003ayi.1_Non-coding_Transcript|GRAP2_uc010gya.1_Missense_Mutation_p.E69D|GRAP2_uc003ayj.1_Missense_Mutation_p.E69D	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	69	SH2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)	1														0.263158	340.600445	370.529353	155	434	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38686041	38686041	7030	22	G	T	T	33	33	GRAP2	T	3	3
FAM83F	113828	broad.mit.edu	36	22	38747525	38747525	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38747525G>A	uc003ayk.1	+	c.1065G>A	c.(1063-1065)CCG>CCA	p.P355P		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	355										breast(1)	1														0.259259	49.020231	53.289836	21	60	GG		KEEP	---	---	---	---	capture			Silent	SNP	38747525	38747525	5864	22	G	A	A	39	39	FAM83F	A	1	1
TNRC6B	23112	broad.mit.edu	36	22	38992735	38992735	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38992735G>A	uc003ayn.2	+	c.2555G>A	c.(2554-2556)CGA>CAA	p.R852Q	TNRC6B_uc003aym.1_Intron|TNRC6B_uc003ayo.2_Missense_Mutation_p.R656Q	NM_015088	NP_055903	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	852	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0										794				0.396552	60.109067	60.653046	23	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38992735	38992735	16882	22	G	A	A	37	37	TNRC6B	A	1	1
ADSL	158	broad.mit.edu	36	22	39075844	39075844	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39075844C>T	uc003ayq.2	+	c.216C>T	c.(214-216)ATC>ATT	p.I72I	ADSL_uc003ayp.2_Silent_p.I72I|ADSL_uc003ays.2_Silent_p.I72I|ADSL_uc003ayr.2_5'UTR|ADSL_uc003ayt.2_Silent_p.I72I	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	72			I -> V (in ADSL deficiency; severe).		AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						Colon(4;65 130 1097 1516)								0.198413	49.608031	60.274309	25	101	CC		KEEP	---	---	---	---	capture			Silent	SNP	39075844	39075844	347	22	C	T	T	31	31	ADSL	T	1	1
SGSM3	27352	broad.mit.edu	36	22	39134313	39134313	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39134313C>T	uc010gyd.1	+	c.1929C>T	c.(1927-1929)TTC>TTT	p.F643F	SGSM3_uc003ayu.1_Silent_p.F572F	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	572	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2														0.201681	45.346026	55.182014	24	95	CC		KEEP	---	---	---	---	capture			Silent	SNP	39134313	39134313	14715	22	C	T	T	31	31	SGSM3	T	1	1
MCHR1	2847	broad.mit.edu	36	22	39407322	39407322	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39407322C>T	uc003ayz.1	+	c.713C>T	c.(712-714)GCC>GTC	p.A238V	MCHR1_uc003aza.1_Missense_Mutation_p.A127V	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	238	Helical; Name=4; (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0														0.475771	302.682566	302.797728	108	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39407322	39407322	9771	22	C	T	T	26	26	MCHR1	T	2	2
XPNPEP3	63929	broad.mit.edu	36	22	39607782	39607782	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39607782C>A	uc003azh.1	+	c.244C>A	c.(244-246)CTG>ATG	p.L82M	XPNPEP3_uc003azi.1_Missense_Mutation_p.L3M|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	82					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						Ovarian(145;306 1841 7037 21878 30110)								0.222222	81.5897	94.381081	40	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39607782	39607782	18027	22	C	A	A	32	32	XPNPEP3	A	3	3
EP300	2033	broad.mit.edu	36	22	39861783	39861783	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39861783A>T	uc003azl.2	+	c.1549A>T	c.(1549-1551)AAT>TAT	p.N517Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	517					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			central_nervous_system(5)|upper_aerodigestive_tract(3)|pancreas(2)|ovary(1)|lung(1)	12										1103				0.5	236.35518	236.35518	85	85	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39861783	39861783	5341	22	A	T	T	1	1	EP300	T	4	4
EP300	2033	broad.mit.edu	36	22	39867024	39867024	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39867024G>T	uc003azl.2	+	c.1905G>T	c.(1903-1905)GAG>GAT	p.E635D		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	635	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			central_nervous_system(5)|upper_aerodigestive_tract(3)|pancreas(2)|ovary(1)|lung(1)	12										1103				0.359551	81.569693	83.117604	32	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39867024	39867024	5341	22	G	T	T	33	33	EP300	T	3	3
EP300	2033	broad.mit.edu	36	22	39877856	39877856	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39877856C>A	uc003azl.2	+	c.2891C>A	c.(2890-2892)TCT>TAT	p.S964Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	964					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			central_nervous_system(5)|upper_aerodigestive_tract(3)|pancreas(2)|ovary(1)|lung(1)	12										1103				0.53268	450.988526	451.26902	163	143	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39877856	39877856	5341	22	C	A	A	32	32	EP300	A	3	3
EP300	2033	broad.mit.edu	36	22	39886601	39886601	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39886601C>A	uc003azl.2	+	c.3600C>A	c.(3598-3600)TTC>TTA	p.F1200L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1200					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			central_nervous_system(5)|upper_aerodigestive_tract(3)|pancreas(2)|ovary(1)|lung(1)	12										1103				0.439655	136.896832	137.26663	51	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39886601	39886601	5341	22	C	A	A	32	32	EP300	A	3	3
EP300	2033	broad.mit.edu	36	22	39904594	39904594	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39904594G>A	uc003azl.2	+	c.6933G>A	c.(6931-6933)CAG>CAA	p.Q2311Q		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2311					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			central_nervous_system(5)|upper_aerodigestive_tract(3)|pancreas(2)|ovary(1)|lung(1)	12										1103				0.373832	220.148445	223.138234	80	134	GG		KEEP	---	---	---	---	capture			Silent	SNP	39904594	39904594	5341	22	G	A	A	34	34	EP300	A	2	2
L3MBTL2	83746	broad.mit.edu	36	22	39942172	39942172	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39942172G>T	uc003azo.1	+	c.480G>T	c.(478-480)GGG>GGT	p.G160G	L3MBTL2_uc010gyi.1_Silent_p.G69G|L3MBTL2_uc003azn.1_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	160					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3														0.2	35.8161	44.613481	21	84	GG		KEEP	---	---	---	---	capture			Silent	SNP	39942172	39942172	8915	22	G	T	T	41	41	L3MBTL2	T	3	3
L3MBTL2	83746	broad.mit.edu	36	22	39953200	39953200	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39953200C>T	uc003azo.1	+	c.1749C>T	c.(1747-1749)TGC>TGT	p.C583C	L3MBTL2_uc010gyi.1_Silent_p.C492C|L3MBTL2_uc003azn.1_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	583	MBT 4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3														0.609756	71.177417	71.609642	25	16	CC		KEEP	---	---	---	---	capture			Silent	SNP	39953200	39953200	8915	22	C	T	T	27	27	L3MBTL2	T	1	1
SREBF2	6721	broad.mit.edu	36	22	40599902	40599902	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40599902G>A	uc003bbi.1	+	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q	LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.1_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	341	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).|Basic motif.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4														0.485714	196.889047	196.91399	68	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40599902	40599902	15656	22	G	A	A	37	37	SREBF2	A	1	1
SREBF2	6721	broad.mit.edu	36	22	40606827	40606827	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40606827C>A	uc003bbi.1	+	c.1923C>A	c.(1921-1923)GTC>GTA	p.V641V	LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.1_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	641	Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4														0.238095	37.385395	42.727467	20	64	CC		KEEP	---	---	---	---	capture			Silent	SNP	40606827	40606827	15656	22	C	A	A	32	32	SREBF2	A	3	3
SEPT3	55964	broad.mit.edu	36	22	40718710	40718710	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40718710G>A	uc003bbr.2	+	c.862G>A	c.(862-864)GAA>AAA	p.E288K	SEPT3_uc003bbs.2_Missense_Mutation_p.E288K|SEPT3_uc010gyr.1_Missense_Mutation_p.E224K|SEPT3_uc010gys.1_Missense_Mutation_p.E68K	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	288					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0										112				0.193548	11.329869	14.049667	6	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40718710	40718710	14551	22	G	A	A	37	37	SEPT3	A	1	1
NAGA	4668	broad.mit.edu	36	22	40792675	40792675	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40792675G>A	uc003bbw.2	-	c.582C>T	c.(580-582)GGC>GGT	p.G194G	NAGA_uc003bbx.1_Silent_p.G194G|NAGA_uc003bby.1_Silent_p.G194G	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	194					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1														0.434783	25.845299	25.930619	10	13	GG		KEEP	---	---	---	---	capture			Silent	SNP	40792675	40792675	10537	22	G	A	A	38	38	NAGA	A	1	1
NAGA	4668	broad.mit.edu	36	22	40793211	40793211	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40793211G>T	uc003bbw.2	-	c.354C>A	c.(352-354)ATC>ATA	p.I118I	NAGA_uc003bbx.1_Silent_p.I118I|NAGA_uc003bby.1_Silent_p.I118I	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	118					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1														0.428135	365.600103	367.081562	140	187	GG		KEEP	---	---	---	---	capture			Silent	SNP	40793211	40793211	10537	22	G	T	T	33	33	NAGA	T	3	3
C22orf32	91689	broad.mit.edu	36	22	40805752	40805752	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40805752G>A	uc003bca.1	+	c.34G>A	c.(34-36)GCA>ACA	p.A12T		NM_033318	NP_201575	Q9H4I9	CV032_HUMAN	hypothetical protein LOC91689	12						integral to membrane|mitochondrion				ovary(1)	1														0.377778	43.555185	44.148002	17	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40805752	40805752	2225	22	G	A	A	42	42	C22orf32	A	2	2
CYP2D6	1565	broad.mit.edu	36	22	40855104	40855104	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40855104G>A	uc003bce.1	-	c.380C>T	c.(379-381)GCG>GTG	p.A127V	CYP2D6_uc010gyu.1_Intron|CYP2D6_uc003bcf.1_Intron	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	127					oxidation-reduction process		electron carrier activity|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			breast(1)	1														0.140351	10.362011	17.48159	8	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40855104	40855104	4334	22	G	A	A	38	38	CYP2D6	A	1	1
TCF20	6942	broad.mit.edu	36	22	40937155	40937155	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40937155G>A	uc003bcj.1	-	c.4101C>T	c.(4099-4101)AGC>AGT	p.S1367S	TCF20_uc003bck.1_Silent_p.S1367S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)	4														0.226496	103.960531	120.037865	53	181	GG		KEEP	---	---	---	---	capture			Silent	SNP	40937155	40937155	16216	22	G	A	A	38	38	TCF20	A	1	1
TCF20	6942	broad.mit.edu	36	22	40938059	40938059	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40938059T>G	uc003bcj.1	-	c.3197A>C	c.(3196-3198)AAT>ACT	p.N1066T	TCF20_uc003bck.1_Missense_Mutation_p.N1066T	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)	4														0.267081	121.86916	129.74746	43	118	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40938059	40938059	16216	22	T	G	G	52	52	TCF20	G	4	4
TCF20	6942	broad.mit.edu	36	22	40938144	40938144	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40938144T>A	uc003bcj.1	-	c.3112A>T	c.(3112-3114)ACC>TCC	p.T1038S	TCF20_uc003bck.1_Missense_Mutation_p.T1038S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)	4														0.272727	92.152766	98.819592	39	104	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40938144	40938144	16216	22	T	A	A	58	58	TCF20	A	4	4
TCF20	6942	broad.mit.edu	36	22	40938468	40938468	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40938468C>A	uc003bcj.1	-	c.2788G>T	c.(2788-2790)GAG>TAG	p.E930*	TCF20_uc003bck.1_Nonsense_Mutation_p.E930*	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	930					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)	4														0.215827	59.163347	69.532543	30	109	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	40938468	40938468	16216	22	C	A	A	32	32	TCF20	A	5	3
TCF20	6942	broad.mit.edu	36	22	40940402	40940402	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40940402C>A	uc003bcj.1	-	c.854G>T	c.(853-855)GGA>GTA	p.G285V	TCF20_uc003bck.1_Missense_Mutation_p.G285V	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)	4														0.467005	490.978674	491.358088	184	210	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40940402	40940402	16216	22	C	A	A	30	30	TCF20	A	3	3
A4GALT	53947	broad.mit.edu	36	22	41419087	41419087	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41419087G>A	uc003bdb.1	-	c.815C>T	c.(814-816)GCC>GTC	p.A272V	A4GALT_uc010gzd.1_Missense_Mutation_p.A272V|A4GALT_uc010gze.1_Missense_Mutation_p.A272V	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	272	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(1)	1														0.459459	45.066285	45.11969	17	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41419087	41419087	7	22	G	A	A	42	42	A4GALT	A	2	2
A4GALT	53947	broad.mit.edu	36	22	41419847	41419847	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41419847G>A	uc003bdb.1	-	c.55C>T	c.(55-57)CGG>TGG	p.R19W	A4GALT_uc010gzd.1_Missense_Mutation_p.R19W|A4GALT_uc010gze.1_Missense_Mutation_p.R19W	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	19	Cytoplasmic (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(1)	1														0.333333	15.911926	16.431583	7	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41419847	41419847	7	22	G	A	A	38	38	A4GALT	A	1	1
ARFGAP3	26286	broad.mit.edu	36	22	41561349	41561349	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41561349G>A	uc003bdd.1	-	c.356C>T	c.(355-357)TCG>TTG	p.S119L	ARFGAP3_uc010gzf.1_Intron	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	119	Arf-GAP.				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						GBM(58;544 1030 21460 27159 48838)								0.179775	56.085985	73.266329	32	146	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41561349	41561349	862	22	G	A	A	37	37	ARFGAP3	A	1	1
PACSIN2	11252	broad.mit.edu	36	22	41602897	41602897	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41602897G>A	uc010gzg.1	-	c.1092C>T	c.(1090-1092)TTC>TTT	p.F364F	PACSIN2_uc003bde.2_Silent_p.F364F|PACSIN2_uc003bdf.2_Intron|PACSIN2_uc003bdg.2_Silent_p.F364F	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	364					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)												0.444988	502.266325	503.347566	182	227	GG		KEEP	---	---	---	---	capture			Silent	SNP	41602897	41602897	11791	22	G	A	A	37	37	PACSIN2	A	1	1
TTLL1	25809	broad.mit.edu	36	22	41794359	41794359	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41794359C>T	uc003bdi.1	-	c.503_splice	c.e5+1	p.S168_splice	TTLL1_uc003bdh.1_Splice_Site_SNP_p.S130_splice|TTLL1_uc003bdj.1_Splice_Site_SNP_p.S54_splice|TTLL1_uc010gzh.1_Splice_Site_SNP_p.S168_splice	NM_012263	NP_001008572			tubulin tyrosine ligase-like family, member 1						protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity				0		Ovarian(80;0.0694)												0.428822	666.97919	669.497499	244	325	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.00461)	Splice_Site_SNP	SNP	41794359	41794359	17277	22	C	T	T	19	19	TTLL1	T	5	1
TTLL12	23170	broad.mit.edu	36	22	41902316	41902316	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41902316G>A	uc003bdq.1	-	c.871C>T	c.(871-873)CCA>TCA	p.P291S	TTLL12_uc003bdr.1_Missense_Mutation_p.P291S	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	291					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)												0.352941	16.14672	16.470072	6	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41902316	41902316	17280	22	G	A	A	42	42	TTLL12	A	2	2
SCUBE1	80274	broad.mit.edu	36	22	41930073	41930073	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41930073G>A	uc003bdt.1	-	c.2841C>T	c.(2839-2841)TTC>TTT	p.F947F		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	947					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)	4		all_neural(38;0.0414)|Ovarian(80;0.07)												0.436548	239.108158	239.801298	86	111	GG		KEEP	---	---	---	---	capture			Silent	SNP	41930073	41930073	14427	22	G	A	A	37	37	SCUBE1	A	1	1
SCUBE1	80274	broad.mit.edu	36	22	41984180	41984180	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41984180C>T	uc003bdt.1	-	c.716G>A	c.(715-717)CGC>CAC	p.R239H	SCUBE1_uc003bdu.1_Missense_Mutation_p.R239H	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	239	EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)	4		all_neural(38;0.0414)|Ovarian(80;0.07)												0.440367	126.874102	127.212933	48	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41984180	41984180	14427	22	C	T	T	27	27	SCUBE1	T	1	1
EFCAB6	64800	broad.mit.edu	36	22	42459019	42459019	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:42459019G>A	uc003bdy.1	-	c.650C>T	c.(649-651)TCG>TTG	p.S217L	EFCAB6_uc003bdz.1_Missense_Mutation_p.S65L|EFCAB6_uc010gzi.1_Missense_Mutation_p.S65L|EFCAB6_uc003bea.1_Missense_Mutation_p.S214L|EFCAB6_uc003beb.2_Missense_Mutation_p.S111L|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|pancreas(1)	4		Ovarian(80;0.0247)|all_neural(38;0.025)												0.469565	153.533227	153.626421	54	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42459019	42459019	5126	22	G	A	A	37	37	EFCAB6	A	1	1
PNPLA5	150379	broad.mit.edu	36	22	42613675	42613675	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:42613675T>C	uc003beg.1	-	c.790A>G	c.(790-792)ACG>GCG	p.T264A	PNPLA5_uc010gzl.1_Missense_Mutation_p.T264A|PNPLA5_uc003beh.1_Missense_Mutation_p.T150A	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	264					lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)												0.350365	139.625714	142.346118	48	89	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42613675	42613675	12595	22	T	C	C	58	58	PNPLA5	C	4	4
PNPLA5	150379	broad.mit.edu	36	22	42616750	42616750	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:42616750C>T	uc003beg.1	-	c.494G>A	c.(493-495)CGC>CAC	p.R165H	PNPLA5_uc010gzl.1_Missense_Mutation_p.R165H|PNPLA5_uc003beh.1_Intron	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	165	Patatin.				lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)												0.443089	303.744539	304.437139	109	137	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42616750	42616750	12595	22	C	T	T	27	27	PNPLA5	T	1	1
PNPLA5	150379	broad.mit.edu	36	22	42618314	42618314	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:42618314G>T	uc003beg.1	-	c.387C>A	c.(385-387)TTC>TTA	p.F129L	PNPLA5_uc010gzl.1_Missense_Mutation_p.F129L|PNPLA5_uc003beh.1_Intron	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	129	Patatin.				lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)												0.243243	19.253913	21.479938	9	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42618314	42618314	12595	22	G	T	T	33	33	PNPLA5	T	3	3
PHF21B	112885	broad.mit.edu	36	22	43657784	43657784	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:43657784C>T	uc003bfn.1	-	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H	PHF21B_uc003bfm.1_Missense_Mutation_p.R277H|PHF21B_uc003bfo.1_Missense_Mutation_p.R439H	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	481							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)												0.396341	165.95493	167.490209	65	99	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	Missense_Mutation	SNP	43657784	43657784	12257	22	C	T	T	27	27	PHF21B	T	1	1
PHF21B	112885	broad.mit.edu	36	22	43690864	43690864	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:43690864C>T	uc003bfn.1	-	c.524G>A	c.(523-525)AGC>AAC	p.S175N	PHF21B_uc003bfm.1_Missense_Mutation_p.S13N|PHF21B_uc003bfo.1_Missense_Mutation_p.S175N	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	175							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)												0.122449	7.013793	13.855932	6	43	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	Missense_Mutation	SNP	43690864	43690864	12257	22	C	T	T	28	28	PHF21B	T	2	2
FAM118A	55007	broad.mit.edu	36	22	44107033	44107033	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:44107033C>T	uc003bfz.2	+	c.715C>T	c.(715-717)CGT>TGT	p.R239C	FAM118A_uc003bga.2_Missense_Mutation_p.R239C	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	239						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)								952				0.206468	167.593415	199.717205	83	319	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	Missense_Mutation	SNP	44107033	44107033	5608	22	C	T	T	31	31	FAM118A	T	1	1
SMC1B	27127	broad.mit.edu	36	22	44146709	44146709	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:44146709G>T	uc003bgc.1	-	c.2186C>A	c.(2185-2187)GCT>GAT	p.A729D	SMC1B_uc003bgd.1_Missense_Mutation_p.A729D|SMC1B_uc003bge.1_Missense_Mutation_p.A512D	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	729	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)												0.171429	52.549426	70.406901	30	145	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	Missense_Mutation	SNP	44146709	44146709	15280	22	G	T	T	34	34	SMC1B	T	3	3
SMC1B	27127	broad.mit.edu	36	22	44181082	44181082	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:44181082C>A	uc003bgc.1	-	c.538G>T	c.(538-540)GAG>TAG	p.E180*	SMC1B_uc003bgd.1_Nonsense_Mutation_p.E180*|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	180	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)												0.182266	63.134862	82.406079	37	166	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	Nonsense_Mutation	SNP	44181082	44181082	15280	22	C	A	A	32	32	SMC1B	A	5	3
FBLN1	2192	broad.mit.edu	36	22	44302516	44302516	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:44302516G>T	uc010gzz.1	+	c.561G>T	c.(559-561)GAG>GAT	p.E187D	FBLN1_uc003bgg.1_Missense_Mutation_p.E149D|FBLN1_uc003bgh.1_Missense_Mutation_p.E149D|FBLN1_uc003bgi.1_Missense_Mutation_p.E149D|FBLN1_uc003bgj.1_Missense_Mutation_p.E149D	NM_001996	NP_001987	P23142	FBLN1_HUMAN	fibulin 1 isoform C precursor	149					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)												0.151042	37.319287	59.775266	29	163	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	Missense_Mutation	SNP	44302516	44302516	5934	22	G	T	T	33	33	FBLN1	T	3	3
ATXN10	25814	broad.mit.edu	36	22	44477371	44477371	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:44477371A>G	uc003bgm.1	+	c.627A>G	c.(625-627)AAA>AAG	p.K209K	ATXN10_uc003bgn.1_Silent_p.K20K	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	209					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)												0.174107	93.404999	115.839636	39	185	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	Silent	SNP	44477371	44477371	1229	22	A	G	G	2	2	ATXN10	G	4	4
WNT7B	7477	broad.mit.edu	36	22	44705870	44705870	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:44705870G>A	uc010haa.1	-	c.354C>T	c.(352-354)GGC>GGT	p.G118G	WNT7B_uc003bgo.1_Silent_p.G114G	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	114					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of gene-specific transcription|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity				0		Ovarian(80;0.00965)|all_neural(38;0.0416)												0.416667	45.115303	45.397581	20	28	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	Silent	SNP	44705870	44705870	17969	22	G	A	A	38	38	WNT7B	A	1	1
C22orf40	150383	broad.mit.edu	36	22	45019721	45019721	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45019721G>A	uc003bhe.1	-	c.304C>T	c.(304-306)CGG>TGG	p.R102W	C22orf40_uc003bhc.1_3'UTR|C22orf40_uc003bhd.1_Missense_Mutation_p.R97W|C22orf40_uc003bhf.1_Non-coding_Transcript	NM_207327	NP_997210	Q6NVV7	CV040_HUMAN	hypothetical protein LOC150383	102											0														0.389222	173.823495	175.622766	65	102	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45019721	45019721	2229	22	G	A	A	37	37	C22orf40	A	1	1
PKDREJ	10343	broad.mit.edu	36	22	45031664	45031664	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45031664C>T	uc003bhh.1	-	c.6220G>A	c.(6220-6222)GAT>AAT	p.D2074N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	2074	Cytoplasmic (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)												0.15	22.468239	34.207796	15	85	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	Missense_Mutation	SNP	45031664	45031664	12395	22	C	T	T	31	31	PKDREJ	T	1	1
PKDREJ	10343	broad.mit.edu	36	22	45032036	45032036	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45032036G>A	uc003bhh.1	-	c.5848C>T	c.(5848-5850)CAC>TAC	p.H1950Y		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1950	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)												0.190476	48.797685	61.984732	28	119	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	Missense_Mutation	SNP	45032036	45032036	12395	22	G	A	A	46	46	PKDREJ	A	2	2
PKDREJ	10343	broad.mit.edu	36	22	45032738	45032738	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45032738T>C	uc003bhh.1	-	c.5146A>G	c.(5146-5148)ACT>GCT	p.T1716A		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1716	Helical; (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)												0.448598	325.089547	325.579272	96	118	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	Missense_Mutation	SNP	45032738	45032738	12395	22	T	C	C	60	60	PKDREJ	C	4	4
PKDREJ	10343	broad.mit.edu	36	22	45034523	45034523	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45034523G>A	uc003bhh.1	-	c.3361C>T	c.(3361-3363)CTT>TTT	p.L1121F		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1121	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)												0.40493	327.857184	330.104079	115	169	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	Missense_Mutation	SNP	45034523	45034523	12395	22	G	A	A	33	33	PKDREJ	A	2	2
PKDREJ	10343	broad.mit.edu	36	22	45036494	45036494	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45036494C>T	uc003bhh.1	-	c.1390G>A	c.(1390-1392)GAA>AAA	p.E464K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	464	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)												0.210937	113.309203	133.096818	54	202	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	Missense_Mutation	SNP	45036494	45036494	12395	22	C	T	T	31	31	PKDREJ	T	1	1
PKDREJ	10343	broad.mit.edu	36	22	45036871	45036871	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45036871G>A	uc003bhh.1	-	c.1013C>T	c.(1012-1014)GCG>GTG	p.A338V		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	338	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)												0.418231	413.131109	415.305086	156	217	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	Missense_Mutation	SNP	45036871	45036871	12395	22	G	A	A	38	38	PKDREJ	A	1	1
PKDREJ	10343	broad.mit.edu	36	22	45037306	45037306	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45037306A>C	uc003bhh.1	-	c.578T>G	c.(577-579)TTG>TGG	p.L193W		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	193	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)												0.194444	16.810375	19.94065	7	29	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	Missense_Mutation	SNP	45037306	45037306	12395	22	A	C	C	5	5	PKDREJ	C	4	4
TRMU	55687	broad.mit.edu	36	22	45131488	45131488	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45131488G>A	uc003bhp.1	+	c.1187G>A	c.(1186-1188)GGC>GAC	p.G396D	TRMU_uc003bhq.1_Missense_Mutation_p.G178D|TRMU_uc003bhr.1_Missense_Mutation_p.G282D|TRMU_uc003bhs.1_Silent_p.G368G|TRMU_uc003bht.1_Missense_Mutation_p.G249D|TRMU_uc003bhu.1_Missense_Mutation_p.G178D|TRMU_uc003bhv.1_Silent_p.G221G	NM_018006	NP_060476	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate	396						mitochondrion	ATP binding|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			ovary(1)	1		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)												0.505102	268.619933	268.624616	99	97	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	Missense_Mutation	SNP	45131488	45131488	17121	22	G	A	A	42	42	TRMU	A	2	2
CELSR1	9620	broad.mit.edu	36	22	45159236	45159236	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45159236C>T	uc003bhw.1	-	c.6751G>A	c.(6751-6753)GAC>AAC	p.D2251N		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2251	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.165049	28.509485	39.480319	17	86	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Missense_Mutation	SNP	45159236	45159236	3354	22	C	T	T	31	31	CELSR1	T	1	1
CELSR1	9620	broad.mit.edu	36	22	45186210	45186210	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45186210G>A	uc003bhw.1	-	c.4722C>T	c.(4720-4722)ATC>ATT	p.I1574I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1574	Extracellular (Potential).|Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.192893	72.145452	89.488915	38	159	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Silent	SNP	45186210	45186210	3354	22	G	A	A	37	37	CELSR1	A	1	1
CELSR1	9620	broad.mit.edu	36	22	45238647	45238647	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45238647G>A	uc003bhw.1	-	c.3804C>T	c.(3802-3804)GGC>GGT	p.G1268G		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1268	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.358491	90.802377	92.678318	38	68	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Silent	SNP	45238647	45238647	3354	22	G	A	A	38	38	CELSR1	A	1	1
CELSR1	9620	broad.mit.edu	36	22	45238722	45238722	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45238722G>A	uc003bhw.1	-	c.3729C>T	c.(3727-3729)TTC>TTT	p.F1243F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1243	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.45283	131.889324	132.093776	48	58	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Silent	SNP	45238722	45238722	3354	22	G	A	A	37	37	CELSR1	A	1	1
CELSR1	9620	broad.mit.edu	36	22	45310953	45310953	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45310953G>A	uc003bhw.1	-	c.779C>T	c.(778-780)GCG>GTG	p.A260V		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	260	Extracellular (Potential).|Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.191781	49.409136	62.377469	28	118	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Missense_Mutation	SNP	45310953	45310953	3354	22	G	A	A	38	38	CELSR1	A	1	1
GRAMD4	23151	broad.mit.edu	36	22	45441417	45441417	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45441417G>A	uc003bhx.1	+	c.841G>A	c.(841-843)GAA>AAA	p.E281K	GRAMD4_uc010had.1_Missense_Mutation_p.E220K	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	281					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)												0.1841	79.876285	102.246505	44	195	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	Missense_Mutation	SNP	45441417	45441417	7028	22	G	A	A	37	37	GRAMD4	A	1	1
GRAMD4	23151	broad.mit.edu	36	22	45448239	45448239	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45448239G>A	uc003bhx.1	+	c.1248G>A	c.(1246-1248)ACG>ACA	p.T416T	GRAMD4_uc010had.1_Silent_p.T355T|GRAMD4_uc003bhy.1_5'Flank	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	416					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)												0.517413	290.711586	290.766317	104	97	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	Silent	SNP	45448239	45448239	7028	22	G	A	A	37	37	GRAMD4	A	1	1
BRD1	23774	broad.mit.edu	36	22	48555789	48555789	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48555789C>T	uc003biu.2	-	c.3144G>A	c.(3142-3144)TGG>TGA	p.W1048*	BRD1_uc010hah.1_Non-coding_Transcript|BRD1_uc003biv.1_Nonsense_Mutation_p.W917*	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	917					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)												0.173333	23.927254	31.486907	13	62	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	Nonsense_Mutation	SNP	48555789	48555789	1532	22	C	T	T	30	30	BRD1	T	5	2
BRD1	23774	broad.mit.edu	36	22	48556780	48556780	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48556780C>T	uc003biu.2	-	c.3027G>A	c.(3025-3027)CCG>CCA	p.P1009P	BRD1_uc010hah.1_Non-coding_Transcript|BRD1_uc003biv.1_Silent_p.P878P	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	878					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)												0.380952	201.266301	203.610853	72	117	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	Silent	SNP	48556780	48556780	1532	22	C	T	T	23	23	BRD1	T	1	1
BRD1	23774	broad.mit.edu	36	22	48602635	48602635	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48602635C>T	uc003biu.2	-	c.1335G>A	c.(1333-1335)CCG>CCA	p.P445P	BRD1_uc010hah.1_Non-coding_Transcript|BRD1_uc003biv.1_Silent_p.P445P	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	445					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)												0.435146	287.526883	288.408537	104	135	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	Silent	SNP	48602635	48602635	1532	22	C	T	T	31	31	BRD1	T	1	1
ALG12	79087	broad.mit.edu	36	22	48690189	48690189	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48690189G>A	uc003biy.1	-	c.366C>T	c.(364-366)TTC>TTT	p.F122F		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	122	Helical; (Potential).				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	alpha-1,6-mannosyltransferase activity				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)												0.406061	180.668718	181.94561	67	98	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	Silent	SNP	48690189	48690189	517	22	G	A	A	37	37	ALG12	A	1	1
PIM3	415116	broad.mit.edu	36	22	48741355	48741355	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48741355G>A	uc003bjb.1	+	c.508G>A	c.(508-510)GAC>AAC	p.D170N	PIM3_uc003bjc.1_5'Flank	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	pim-3 oncogene	170	Protein kinase.	Proton acceptor (By similarity).			cell cycle|negative regulation of apoptosis|protein phosphorylation|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)								29				0.368421	18.520358	18.809307	7	12	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)	Missense_Mutation	SNP	48741355	48741355	12353	22	G	A	A	37	37	PIM3	A	1	1
MOV10L1	54456	broad.mit.edu	36	22	48895062	48895062	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48895062T>C	uc003bjj.1	+	c.1010T>C	c.(1009-1011)GTT>GCT	p.V337A	MOV10L1_uc003bjk.2_Missense_Mutation_p.V337A|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1	337					germ cell development|multicellular organismal development|spermatogenesis	intracellular	ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)	2		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)												0.251429	128.62181	138.44046	44	131	TT		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	Missense_Mutation	SNP	48895062	48895062	10111	22	T	C	C	60	60	MOV10L1	C	4	4
MOV10L1	54456	broad.mit.edu	36	22	48914599	48914599	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48914599C>T	uc003bjj.1	+	c.1947C>T	c.(1945-1947)CAC>CAT	p.H649H	MOV10L1_uc003bjk.2_Silent_p.H649H|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1	649					germ cell development|multicellular organismal development|spermatogenesis	intracellular	ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)	2		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)												0.1875	38.601971	48.852707	21	91	CC		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	Silent	SNP	48914599	48914599	10111	22	C	T	T	19	19	MOV10L1	T	1	1
MOV10L1	54456	broad.mit.edu	36	22	48931341	48931341	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48931341A>G	uc003bjj.1	+	c.2778A>G	c.(2776-2778)AGA>AGG	p.R926R	MOV10L1_uc003bjk.2_Silent_p.R926R|MOV10L1_uc003bjl.1_Silent_p.R53R|MOV10L1_uc003bjm.1_Intron	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1	926					germ cell development|multicellular organismal development|spermatogenesis	intracellular	ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)	2		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)												0.192308	34.199988	41.081841	15	63	AA		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	Silent	SNP	48931341	48931341	10111	22	A	G	G	10	10	MOV10L1	G	4	4
MOV10L1	54456	broad.mit.edu	36	22	48933629	48933629	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48933629C>T	uc003bjj.1	+	c.2921C>T	c.(2920-2922)TCC>TTC	p.S974F	MOV10L1_uc003bjk.2_Missense_Mutation_p.S974F|MOV10L1_uc003bjl.1_Missense_Mutation_p.S101F|MOV10L1_uc003bjm.1_Missense_Mutation_p.S17F	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1	974					germ cell development|multicellular organismal development|spermatogenesis	intracellular	ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)	2		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)												0.225296	121.195656	138.795526	57	196	CC		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	Missense_Mutation	SNP	48933629	48933629	10111	22	C	T	T	30	30	MOV10L1	T	2	2
SELO	83642	broad.mit.edu	36	22	48997886	48997886	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48997886G>A	uc003bjx.1	+	c.1971G>A	c.(1969-1971)CCG>CCA	p.P657P	SELO_uc010hap.1_Silent_p.P468P|SELO_uc003bjy.1_Silent_p.P337P|SELO_uc003bjz.1_Silent_p.P408P|SELO_uc010haq.1_Silent_p.P121P	NM_031454		Q9BVL4	SELO_HUMAN	selenoprotein O	657											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)												0.142857	18.364596	31.268548	15	90	GG		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(64;0.105)	Silent	SNP	48997886	48997886	14504	22	G	A	A	38	38	SELO	A	1	1
HDAC10	83933	broad.mit.edu	36	22	49026872	49026872	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49026872G>T	uc003bkg.1	-	c.1632C>A	c.(1630-1632)GTC>GTA	p.V544V	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.1_Silent_p.V270V|HDAC10_uc003bkf.1_Silent_p.V270V|HDAC10_uc010hav.1_Silent_p.V524V|HDAC10_uc003bkh.1_Silent_p.V337V|HDAC10_uc003bki.1_Silent_p.V494V|HDAC10_uc003bkj.1_Non-coding_Transcript	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10	544					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|specific transcriptional repressor activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)												0.202847	102.903879	125.969084	57	224	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Silent	SNP	49026872	49026872	7288	22	G	T	T	33	33	HDAC10	T	3	3
PLXNB2	23654	broad.mit.edu	36	22	49061313	49061313	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49061313G>A	uc003bkv.2	-	c.3980C>T	c.(3979-3981)TCT>TTT	p.S1327F	PLXNB2_uc003bkt.1_Missense_Mutation_p.S119F|PLXNB2_uc003bku.1_Missense_Mutation_p.S312F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2	1327	Cytoplasmic (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)	5		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)												0.315789	33.184688	34.332545	12	26	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Missense_Mutation	SNP	49061313	49061313	12550	22	G	A	A	33	33	PLXNB2	A	2	2
PLXNB2	23654	broad.mit.edu	36	22	49062251	49062251	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49062251G>A	uc003bkv.2	-	c.3393C>T	c.(3391-3393)TTC>TTT	p.F1131F	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.F116F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2	1131	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)	5		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)												0.186441	19.488213	24.927087	11	48	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Silent	SNP	49062251	49062251	12550	22	G	A	A	37	37	PLXNB2	A	1	1
FAM116B	414918	broad.mit.edu	36	22	49094654	49094654	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49094654C>A	uc003bkx.1	-	c.1104G>T	c.(1102-1104)CAG>CAT	p.Q368H		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	hypothetical protein LOC414918	425											0		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)												0.368421	17.517895	17.807821	7	12	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Missense_Mutation	SNP	49094654	49094654	5605	22	C	A	A	32	32	FAM116B	A	3	3
SBF1	6305	broad.mit.edu	36	22	49240396	49240396	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49240396G>T	uc003blh.1	-	c.4596C>A	c.(4594-4596)TTC>TTA	p.F1532L	SBF1_uc003ble.1_Missense_Mutation_p.F8L|SBF1_uc003blf.1_Missense_Mutation_p.F8L|SBF1_uc003blg.1_Missense_Mutation_p.F1506L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1 isoform a	1506	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)												0.506494	104.793849	104.79624	39	38	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Missense_Mutation	SNP	49240396	49240396	14339	22	G	T	T	33	33	SBF1	T	3	3
ADM2	79924	broad.mit.edu	36	22	49268096	49268096	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49268096C>T	uc003blj.1	+	c.345C>T	c.(343-345)TGC>TGT	p.C115C		NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2 precursor	115						extracellular region	hormone 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)												0.205882	12.704211	15.434367	7	27	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Silent	SNP	49268096	49268096	323	22	C	T	T	26	26	ADM2	T	2	2
SCO2	9997	broad.mit.edu	36	22	49309506	49309506	+	Silent	SNP	G	A	A	rs61748568	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49309506G>A	uc003bma.1	-	c.201C>T	c.(199-201)TTC>TTT	p.F67F	SCO2_uc003blz.2_Silent_p.F67F|SCO2_uc010hbc.1_Silent_p.F67F	NM_005138	NP_005129	O43819	SCO2_HUMAN	cytochrome oxidase deficient homolog 2	67					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding				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)												0.440678	215.963643	216.497591	78	99	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Silent	SNP	49309506	49309506	14414	22	G	A	A	37	37	SCO2	A	1	1
TYMP	1890	broad.mit.edu	36	22	49314907	49314907	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49314907G>A	uc003bme.2	-	c.98C>T	c.(97-99)CCC>CTC	p.P33L	TYMP_uc003bmb.2_Missense_Mutation_p.P33L|TYMP_uc003bmc.2_Missense_Mutation_p.P33L|TYMP_uc003bmd.2_Missense_Mutation_p.P33L|TYMP_uc010hbd.1_Missense_Mutation_p.P33L|TYMP_uc003bmf.2_Missense_Mutation_p.P33L	NM_001953	NP_001944	P19971	TYPH_HUMAN	endothelial cell growth factor 1	33					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		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)			Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)									0.333333	51.130987	52.459927	18	36	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Missense_Mutation	SNP	49314907	49314907	17368	22	G	A	A	43	43	TYMP	A	2	2
KLHDC7B	113730	broad.mit.edu	36	22	49334754	49334754	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49334754C>T	uc003bmi.1	+	c.996C>T	c.(994-996)CGC>CGT	p.R332R		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	431	Kelch 3.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)												0.198381	90.868631	111.775587	49	198	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Silent	SNP	49334754	49334754	8673	22	C	T	T	27	27	KLHDC7B	T	1	1
CPT1B	1375	broad.mit.edu	36	22	49357343	49357343	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49357343C>T	uc003bmk.2	-	c.1533G>A	c.(1531-1533)GCG>GCA	p.A511A	CPT1B_uc003bml.1_Silent_p.A511A|CPT1B_uc003bmm.1_Silent_p.A511A|CPT1B_uc003bmn.1_Silent_p.A511A|CPT1B_uc003bmo.1_Silent_p.A511A|CPT1B_uc003bmp.1_Silent_p.A308A|CPT1B_uc003bmq.1_3'UTR	NM_152246	NP_689452	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	511	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|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)				Esophageal Squamous(170;988 1933 25577 30295 48163)								0.202703	57.788465	69.925434	30	118	CC		KEEP	---	---	---	---	capture		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	Silent	SNP	49357343	49357343	3971	22	C	T	T	27	27	CPT1B	T	1	1
CHKB	1120	broad.mit.edu	36	22	49364759	49364759	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49364759G>A	uc003bms.1	-	c.1075C>T	c.(1075-1077)CTC>TTC	p.L359F	CPT1B_uc003bmk.2_5'Flank|CPT1B_uc003bml.1_5'Flank|CPT1B_uc003bmm.1_5'Flank|CPT1B_uc003bmn.1_5'Flank|CPT1B_uc003bmo.1_5'Flank|CPT1B_uc003bmp.1_5'UTR|CPT1B_uc003bmq.1_3'UTR|CPT1B_uc003bmt.1_Missense_Mutation_p.L150F|CPT1B_uc003bmu.1_Missense_Mutation_p.L238F|CHKB_uc003bmv.1_Missense_Mutation_p.L359F	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta isoform a	359					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|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)			Choline(DB00122)									0.65625	140.264852	141.643531	42	22	GG		KEEP	---	---	---	---	capture		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Missense_Mutation	SNP	49364759	49364759	3482	22	G	A	A	35	35	CHKB	A	2	2
LONRF2	164832	broad.mit.edu	36	2	100285837	100285837	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:100285837G>T	uc002tal.2	-	c.899C>A	c.(898-900)TCT>TAT	p.S300Y		NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	300					proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)	1														0.364198	152.367412	155.00097	59	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100285837	100285837	9267	2	G	T	T	33	33	LONRF2	T	3	3
CHST10	9486	broad.mit.edu	36	2	100380979	100380979	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:100380979G>A	uc002tam.1	-	c.250C>T	c.(250-252)CGC>TGC	p.R84C		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	84	Lumenal (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1														0.468254	329.416916	329.638439	118	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100380979	100380979	3532	2	G	A	A	38	38	CHST10	A	1	1
NMS	129521	broad.mit.edu	36	2	100464039	100464039	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:100464039G>A	uc002tan.1	+	c.392G>A	c.(391-393)GGA>GAA	p.G131E		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S	131					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1														0.238806	140.226106	156.969413	64	204	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100464039	100464039	10905	2	G	A	A	41	41	NMS	A	2	2
NPAS2	4862	broad.mit.edu	36	2	100931159	100931159	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:100931159T>G	uc002tap.1	+	c.394T>G	c.(394-396)TTC>GTC	p.F132V		NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	132	PAS 1.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription regulator activity			ovary(3)	3														0.322751	186.014188	191.283427	61	128	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100931159	100931159	10967	2	T	G	G	64	64	NPAS2	G	4	4
RPL31	6160	broad.mit.edu	36	2	100985695	100985695	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:100985695C>A	uc010fiu.1	+	c.100C>A	c.(100-102)CAT>AAT	p.H34N	RPL31_uc002taq.2_Missense_Mutation_p.H34N|RPL31_uc002tar.2_Missense_Mutation_p.H34N|RPL31_uc002tas.1_Missense_Mutation_p.H34N|RPL31_uc002tat.1_Missense_Mutation_p.H34N	NM_001098577	NP_001092047	P62899	RL31_HUMAN	ribosomal protein L31 isoform 2	34					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0														0.383562	74.976921	75.846623	28	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100985695	100985695	14060	2	C	A	A	21	21	RPL31	A	3	3
TBC1D8	11138	broad.mit.edu	36	2	100994400	100994400	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:100994400C>T	uc010fiv.1	-	c.2817G>A	c.(2815-2817)CCG>CCA	p.P939P	RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.2_Silent_p.P696P	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	939					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3														0.548148	214.545702	214.817144	74	61	CC		KEEP	---	---	---	---	capture			Silent	SNP	100994400	100994400	16151	2	C	T	T	19	19	TBC1D8	T	1	1
TBC1D8	11138	broad.mit.edu	36	2	101018990	101018990	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:101018990G>A	uc010fiv.1	-	c.1480C>T	c.(1480-1482)CGC>TGC	p.R494C	TBC1D8_uc002tau.2_Missense_Mutation_p.R251C	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	494					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3														0.563492	407.557012	408.442463	142	110	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101018990	101018990	16151	2	G	A	A	37	37	TBC1D8	A	1	1
KLF11	8462	broad.mit.edu	36	2	10103990	10103990	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:10103990C>T	uc002raf.1	+	c.305C>T	c.(304-306)TCG>TTG	p.S102L		NM_003597	NP_003588	O14901	KLF11_HUMAN	Kruppel-like factor 11	102					apoptosis|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	promoter binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					Melanoma(56;431 1507 23687 50789)								0.137931	15.440501	26.474412	12	75	CC		KEEP	---	---	---	---	capture		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	Missense_Mutation	SNP	10103990	10103990	8651	2	C	T	T	31	31	KLF11	T	1	1
KLF11	8462	broad.mit.edu	36	2	10109859	10109859	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:10109859C>T	uc002raf.1	+	c.1313C>T	c.(1312-1314)TCG>TTG	p.S438L		NM_003597	NP_003588	O14901	KLF11_HUMAN	Kruppel-like factor 11	438	C2H2-type 2.				apoptosis|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	promoter binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					Melanoma(56;431 1507 23687 50789)								0.331579	161.061996	165.836599	63	127	CC		KEEP	---	---	---	---	capture		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	Missense_Mutation	SNP	10109859	10109859	8651	2	C	T	T	31	31	KLF11	T	1	1
CREG2	200407	broad.mit.edu	36	2	101338251	101338251	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:101338251G>A	uc002tba.1	-	c.621C>T	c.(619-621)ATC>ATT	p.I207I		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	207						extracellular region	FMN binding			ovary(1)	1														0.551724	95.800616	95.935061	32	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	101338251	101338251	4004	2	G	A	A	37	37	CREG2	A	1	1
MAP4K4	9448	broad.mit.edu	36	2	101814725	101814725	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:101814725G>T	uc002tbc.1	+	c.619G>T	c.(619-621)GAT>TAT	p.D207Y	MAP4K4_uc002tbd.1_Missense_Mutation_p.D207Y|MAP4K4_uc002tbe.1_Missense_Mutation_p.D207Y|MAP4K4_uc002tbf.1_Missense_Mutation_p.D207Y|MAP4K4_uc002tbg.1_Missense_Mutation_p.D207Y|MAP4K4_uc002tbh.1_Missense_Mutation_p.D207Y|MAP4K4_uc002tbi.1_Intron|MAP4K4_uc002tbj.1_Missense_Mutation_p.D103Y|MAP4K4_uc010fiw.1_Missense_Mutation_p.D49Y	NM_145686	NP_663719	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	207	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4										483		OREG0014845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.322581	23.935838	24.804077	10	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101814725	101814725	9645	2	G	T	T	33	33	MAP4K4	T	3	3
MAP4K4	9448	broad.mit.edu	36	2	101822724	101822724	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:101822724T>G	uc002tbc.1	+	c.785T>G	c.(784-786)TTT>TGT	p.F262C	MAP4K4_uc002tbd.1_Missense_Mutation_p.F262C|MAP4K4_uc002tbe.1_Missense_Mutation_p.F262C|MAP4K4_uc002tbf.1_Missense_Mutation_p.F262C|MAP4K4_uc002tbg.1_Missense_Mutation_p.F262C|MAP4K4_uc002tbh.1_Missense_Mutation_p.F262C|MAP4K4_uc002tbi.1_Intron|MAP4K4_uc002tbj.1_Missense_Mutation_p.F158C|MAP4K4_uc010fiw.1_Missense_Mutation_p.F104C	NM_145686	NP_663719	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	262	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4										483				0.557692	100.784145	100.935588	29	23	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101822724	101822724	9645	2	T	G	G	64	64	MAP4K4	G	4	4
MAP4K4	9448	broad.mit.edu	36	2	101822822	101822822	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:101822822G>T	uc002tbc.1	+	c.883G>T	c.(883-885)GAA>TAA	p.E295*	MAP4K4_uc002tbd.1_Nonsense_Mutation_p.E295*|MAP4K4_uc002tbe.1_Nonsense_Mutation_p.E295*|MAP4K4_uc002tbf.1_Nonsense_Mutation_p.E295*|MAP4K4_uc002tbg.1_Nonsense_Mutation_p.E295*|MAP4K4_uc002tbh.1_Nonsense_Mutation_p.E295*|MAP4K4_uc002tbi.1_Intron|MAP4K4_uc002tbj.1_Nonsense_Mutation_p.E191*|MAP4K4_uc010fiw.1_Nonsense_Mutation_p.E137*	NM_145686	NP_663719	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	295					intracellular protein kinase cascade|protein phosphorylation|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4										483				0.223301	47.562108	54.821221	23	80	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	101822822	101822822	9645	2	G	T	T	45	45	MAP4K4	T	5	3
MAP4K4	9448	broad.mit.edu	36	2	101859945	101859945	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:101859945G>T	uc002tbc.1	+	c.3098G>T	c.(3097-3099)AGA>ATA	p.R1033I	MAP4K4_uc002tbd.1_Missense_Mutation_p.R925I|MAP4K4_uc002tbe.1_Missense_Mutation_p.R871I|MAP4K4_uc002tbf.1_Missense_Mutation_p.R986I|MAP4K4_uc002tbg.1_Missense_Mutation_p.R952I|MAP4K4_uc002tbh.1_Missense_Mutation_p.R870I|MAP4K4_uc002tbi.1_Missense_Mutation_p.R755I|MAP4K4_uc002tbk.1_Missense_Mutation_p.R407I|MAP4K4_uc002tbl.1_Missense_Mutation_p.R138I	NM_145686	NP_663719	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	952	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|protein phosphorylation|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4										483				0.342105	61.133032	62.804125	26	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101859945	101859945	9645	2	G	T	T	33	33	MAP4K4	T	3	3
IL1RL2	8808	broad.mit.edu	36	2	102218037	102218037	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102218037G>A	uc002tbs.1	+	c.1546G>A	c.(1546-1548)GAC>AAC	p.D516N	IL1RL2_uc002tbt.1_Missense_Mutation_p.D398N	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	516	TIR.|Cytoplasmic (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2												OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.245	113.374704	125.224364	49	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102218037	102218037	7965	2	G	A	A	41	41	IL1RL2	A	2	2
IL1RL1	9173	broad.mit.edu	36	2	102323576	102323576	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102323576G>T	uc002tbu.1	+	c.466G>T	c.(466-468)GGA>TGA	p.G156*	IL18R1_uc002tbw.2_Intron|IL1RL1_uc002tbv.1_Nonsense_Mutation_p.G156*	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	156	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			ovary(1)|central_nervous_system(1)|skin(1)	3														0.26506	151.120933	163.556092	66	183	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	102323576	102323576	7964	2	G	T	T	35	35	IL1RL1	T	5	3
IL1RL1	9173	broad.mit.edu	36	2	102334562	102334562	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102334562G>A	uc002tbu.1	+	c.1420G>A	c.(1420-1422)GAC>AAC	p.D474N	IL18R1_uc002tbw.2_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	474	TIR.|Cytoplasmic (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			ovary(1)|central_nervous_system(1)|skin(1)	3														0.302013	112.911788	118.130667	45	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102334562	102334562	7964	2	G	A	A	37	37	IL1RL1	A	1	1
SLC9A2	6549	broad.mit.edu	36	2	102648157	102648157	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102648157G>A	uc002tca.1	+	c.920G>A	c.(919-921)CGA>CAA	p.R307Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	307	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.326923	130.171435	134.31643	51	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102648157	102648157	15209	2	G	A	A	37	37	SLC9A2	A	1	1
SLC9A2	6549	broad.mit.edu	36	2	102666258	102666258	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102666258G>A	uc002tca.1	+	c.1111G>A	c.(1111-1113)GAA>AAA	p.E371K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	371	Helical; Name=J/M8; (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.497076	244.561914	244.563228	85	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102666258	102666258	15209	2	G	A	A	37	37	SLC9A2	A	1	1
SLC9A2	6549	broad.mit.edu	36	2	102685353	102685353	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102685353G>A	uc002tca.1	+	c.1805G>A	c.(1804-1806)CGA>CAA	p.R602Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	602	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.24375	89.655655	99.225074	39	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102685353	102685353	15209	2	G	A	A	37	37	SLC9A2	A	1	1
SLC9A2	6549	broad.mit.edu	36	2	102687468	102687468	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102687468G>A	uc002tca.1	+	c.1879G>A	c.(1879-1881)GAC>AAC	p.D627N		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	627	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.670213	192.348197	194.761787	63	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102687468	102687468	15209	2	G	A	A	37	37	SLC9A2	A	1	1
ODC1	4953	broad.mit.edu	36	2	10499237	10499237	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:10499237C>T	uc010exg.1	-	c.1090G>A	c.(1090-1092)GAT>AAT	p.D364N	ODC1_uc002ran.1_Missense_Mutation_p.D50N|ODC1_uc002rao.1_Missense_Mutation_p.D364N	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	364					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)				Pyridoxal Phosphate(DB00114)|Spermine(DB00127)									0.572581	212.137548	212.707699	71	53	CC		KEEP	---	---	---	---	capture		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Missense_Mutation	SNP	10499237	10499237	11230	2	C	T	T	31	31	ODC1	T	1	1
MRPS9	64965	broad.mit.edu	36	2	105032121	105032121	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:105032121C>T	uc002tcn.2	+	c.196C>T	c.(196-198)CGT>TGT	p.R66C		NM_182640	NP_872578	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	66					DNA damage response, detection of DNA damage|peptide biosynthetic process|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0														0.324561	94.133286	97.248488	37	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105032121	105032121	10242	2	C	T	T	19	19	MRPS9	T	1	1
MRPS9	64965	broad.mit.edu	36	2	105032194	105032194	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:105032194A>G	uc002tcn.2	+	c.269A>G	c.(268-270)AAC>AGC	p.N90S		NM_182640	NP_872578	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	90					DNA damage response, detection of DNA damage|peptide biosynthetic process|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0														0.395604	121.286392	122.152688	36	55	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105032194	105032194	10242	2	A	G	G	2	2	MRPS9	G	4	4
MRPS9	64965	broad.mit.edu	36	2	105082568	105082568	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:105082568C>A	uc002tcn.2	+	c.1108C>A	c.(1108-1110)CTT>ATT	p.L370I		NM_182640	NP_872578	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	370					DNA damage response, detection of DNA damage|peptide biosynthetic process|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0														0.354545	107.790739	109.842901	39	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105082568	105082568	10242	2	C	A	A	20	20	MRPS9	A	3	3
GPR45	11250	broad.mit.edu	36	2	105225163	105225163	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:105225163G>A	uc002tco.1	+	c.416G>A	c.(415-417)CGC>CAC	p.R139H		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	139	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)	2														0.295775	48.35323	50.999247	21	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105225163	105225163	6971	2	G	A	A	38	38	GPR45	A	1	1
TGFBRAP1	9392	broad.mit.edu	36	2	105290711	105290711	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:105290711G>A	uc002tcq.1	-	c.480C>T	c.(478-480)ATC>ATT	p.I160I	TGFBRAP1_uc002tcr.2_Silent_p.I160I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	160	CNH.				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						Esophageal Squamous(183;794 2019 9730 21801 48859)								0.269129	235.274104	253.516285	102	277	GG		KEEP	---	---	---	---	capture			Silent	SNP	105290711	105290711	16352	2	G	A	A	37	37	TGFBRAP1	A	1	1
FHL2	2274	broad.mit.edu	36	2	105350532	105350532	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:105350532G>A	uc002tdb.1	-	c.776C>T	c.(775-777)CCC>CTC	p.P259L	FHL2_uc002tcw.1_Missense_Mutation_p.P143L|FHL2_uc002tcx.1_Missense_Mutation_p.P143L|FHL2_uc010fje.1_Missense_Mutation_p.P56L|FHL2_uc002tcy.1_Missense_Mutation_p.P143L|FHL2_uc002tcz.1_Missense_Mutation_p.P253L|FHL2_uc002tda.1_Non-coding_Transcript|FHL2_uc002tdc.1_Missense_Mutation_p.P29L|FHL2_uc002tcv.1_Missense_Mutation_p.P143L|FHL2_uc002tdd.1_Missense_Mutation_p.P143L|FHL2_uc002tct.1_Missense_Mutation_p.P29L|FHL2_uc002tcu.1_Missense_Mutation_p.P143L	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	143	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			ovary(1)	1														0.472924	407.501866	407.678894	131	146	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105350532	105350532	6117	2	G	A	A	43	43	FHL2	A	2	2
NCK2	8440	broad.mit.edu	36	2	105864460	105864460	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:105864460C>T	uc002tdg.1	+	c.471C>T	c.(469-471)ATC>ATT	p.I157I	NCK2_uc002tdh.1_Intron|NCK2_uc002tdi.1_Silent_p.I157I	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	157	SH3 2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2														0.196078	36.446592	45.228013	20	82	CC		KEEP	---	---	---	---	capture			Silent	SNP	105864460	105864460	10619	2	C	T	T	31	31	NCK2	T	1	1
ST6GAL2	84620	broad.mit.edu	36	2	106813053	106813053	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:106813053A>C	uc002tdr.1	-	c.1219T>G	c.(1219-1221)TAC>GAC	p.Y407D	ST6GAL2_uc002tds.2_Missense_Mutation_p.Y407D	NM_032528	NP_115917	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	407	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(3)	9														0.298246	211.430175	219.714408	68	160	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106813053	106813053	15740	2	A	C	C	13	13	ST6GAL2	C	4	4
ST6GAL2	84620	broad.mit.edu	36	2	106826677	106826677	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:106826677G>A	uc002tdr.1	-	c.189C>T	c.(187-189)GGC>GGT	p.G63G	ST6GAL2_uc002tds.2_Silent_p.G63G	NM_032528	NP_115917	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	63	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(3)	9														0.298246	37.045304	39.124552	17	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	106826677	106826677	15740	2	G	A	A	38	38	ST6GAL2	A	1	1
SLC5A7	60482	broad.mit.edu	36	2	107993439	107993439	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:107993439C>T	uc002tdv.1	+	c.1433C>T	c.(1432-1434)CCA>CTA	p.P478L	SLC5A7_uc010fjj.1_Missense_Mutation_p.P478L|SLC5A7_uc010fjk.1_Non-coding_Transcript	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	478	Cytoplasmic (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)	3					Choline(DB00122)									0.294118	103.937504	109.102438	40	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107993439	107993439	15167	2	C	T	T	21	21	SLC5A7	T	2	2
SULT1C2	6819	broad.mit.edu	36	2	108291243	108291243	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108291243C>T	uc002tdx.1	+	c.815C>T	c.(814-816)ACT>ATT	p.T272I	SULT1C2_uc002tdy.1_Missense_Mutation_p.T261I	NM_176825	NP_789795	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 1	261					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			ovary(1)	1														0.614973	348.53225	350.691736	115	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108291243	108291243	15897	2	C	T	T	20	20	SULT1C2	T	2	2
ATP6V1C2	245973	broad.mit.edu	36	2	10832589	10832589	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:10832589G>A	uc002ras.1	+	c.766G>A	c.(766-768)GAA>AAA	p.E256K	ATP6V1C2_uc002rat.1_Missense_Mutation_p.E256K	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	256					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)					NSCLC(188;1042 2136 10807 16813 47705)								0.262069	93.278381	100.709398	38	107	GG		KEEP	---	---	---	---	capture		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	Missense_Mutation	SNP	10832589	10832589	1200	2	G	A	A	41	41	ATP6V1C2	A	2	2
SULT1C4	27233	broad.mit.edu	36	2	108370285	108370285	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108370285A>G	uc002tea.1	+	c.874A>G	c.(874-876)ACT>GCT	p.T292A	SULT1C4_uc002teb.1_Missense_Mutation_p.T217A	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	292					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0														0.292857	121.027936	126.400997	41	99	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108370285	108370285	15899	2	A	G	G	10	10	SULT1C4	G	4	4
ATP6V1C2	245973	broad.mit.edu	36	2	10840829	10840829	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:10840829C>A	uc002ras.1	+	c.1273C>A	c.(1273-1275)CTT>ATT	p.L425I	ATP6V1C2_uc002rat.1_Missense_Mutation_p.L379I	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	425					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)					NSCLC(188;1042 2136 10807 16813 47705)								0.282443	87.010349	92.587283	37	94	CC		KEEP	---	---	---	---	capture		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	Missense_Mutation	SNP	10840829	10840829	1200	2	C	A	A	32	32	ATP6V1C2	A	3	3
GCC2	9648	broad.mit.edu	36	2	108458483	108458483	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108458483C>T	uc002tec.1	+	c.2921C>T	c.(2920-2922)GCC>GTC	p.A974V	GCC2_uc002ted.1_Missense_Mutation_p.A873V	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2 isoform	974	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1														0.184211	13.300092	16.857671	7	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108458483	108458483	6552	2	C	T	T	26	26	GCC2	T	2	2
GCC2	9648	broad.mit.edu	36	2	108458714	108458714	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108458714C>A	uc002tec.1	+	c.3036C>A	c.(3034-3036)CTC>CTA	p.L1012L	GCC2_uc002ted.1_Silent_p.L911L	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2 isoform	1012	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1														0.276423	81.887718	87.428835	34	89	CC		KEEP	---	---	---	---	capture			Silent	SNP	108458714	108458714	6552	2	C	A	A	29	29	GCC2	A	3	3
PDIA6	10130	broad.mit.edu	36	2	10847407	10847407	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:10847407G>A	uc002rav.1	-	c.915C>T	c.(913-915)GAC>GAT	p.D305D	PDIA6_uc002raw.1_Silent_p.D301D|PDIA6_uc002rau.1_Silent_p.D253D	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	protein disulfide isomerase-associated 6	253	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)					GBM(73;509 1219 34219 41343 41551)								0.264706	119.455292	129.673409	54	150	GG		KEEP	---	---	---	---	capture		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	Silent	SNP	10847407	10847407	12093	2	G	A	A	40	40	PDIA6	A	1	1
CCDC138	165055	broad.mit.edu	36	2	108777494	108777494	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108777494C>A	uc002ten.1	+	c.461C>A	c.(460-462)TCT>TAT	p.S154Y	CCDC138_uc002teo.1_Missense_Mutation_p.S154Y|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	154											0														0.277108	105.165756	112.597449	46	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108777494	108777494	2892	2	C	A	A	32	32	CCDC138	A	3	3
CCDC138	165055	broad.mit.edu	36	2	108829740	108829740	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108829740A>G	uc002ten.1	+	c.1438A>G	c.(1438-1440)ACA>GCA	p.T480A	CCDC138_uc002teo.1_Missense_Mutation_p.T480A|CCDC138_uc002tep.1_Missense_Mutation_p.T164A|CCDC138_uc010fjm.1_Missense_Mutation_p.T164A	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	480											0														0.23741	88.612015	97.36437	33	106	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108829740	108829740	2892	2	A	G	G	10	10	CCDC138	G	4	4
SH3RF3	344558	broad.mit.edu	36	2	109419961	109419961	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:109419961G>A	uc002tet.2	+	c.1755G>A	c.(1753-1755)TCG>TCA	p.S585S		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	585							zinc ion binding			ovary(1)	1														0.6	92.976223	93.456513	33	22	GG		KEEP	---	---	---	---	capture			Silent	SNP	109419961	109419961	14752	2	G	A	A	38	38	SH3RF3	A	1	1
SH3RF3	344558	broad.mit.edu	36	2	109432276	109432276	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:109432276G>A	uc002tet.2	+	c.2047G>A	c.(2047-2049)GCA>ACA	p.A683T		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	683							zinc ion binding			ovary(1)	1														0.535714	84.95194	85.014494	30	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109432276	109432276	14752	2	G	A	A	38	38	SH3RF3	A	1	1
SEPT10	151011	broad.mit.edu	36	2	109689562	109689562	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:109689562C>T	uc002tey.1	-	c.485G>A	c.(484-486)CGT>CAT	p.R162H	SEPT10_uc002tew.1_Missense_Mutation_p.R162H|SEPT10_uc002tex.1_Missense_Mutation_p.R139H|SEPT10_uc002tev.1_5'UTR|SEPT10_uc010fjo.1_Non-coding_Transcript	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	162					cell cycle|cell division	septin complex	GTP binding				0														0.244275	64.414974	72.246738	32	99	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109689562	109689562	14546	2	C	T	T	19	19	SEPT10	T	1	1
KCNF1	3754	broad.mit.edu	36	2	10970107	10970107	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:10970107T>G	uc002rax.1	+	c.104T>G	c.(103-105)GTG>GGG	p.V35G		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	35	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)													0.363636	14.446466	14.824324	8	14	TT		KEEP	---	---	---	---	capture		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	Missense_Mutation	SNP	10970107	10970107	8331	2	T	G	G	59	59	KCNF1	G	4	4
KCNF1	3754	broad.mit.edu	36	2	10970881	10970881	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:10970881G>A	uc002rax.1	+	c.878G>A	c.(877-879)CGG>CAG	p.R293Q		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	293	Helical; Voltage-sensor; Name=Segment S4; (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)													0.263158	24.333223	26.261534	10	28	GG		KEEP	---	---	---	---	capture		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	Missense_Mutation	SNP	10970881	10970881	8331	2	G	A	A	39	39	KCNF1	A	1	1
NPHP1	4867	broad.mit.edu	36	2	110279589	110279589	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:110279589G>A	uc002tfl.2	-	c.736C>T	c.(736-738)CCC>TCC	p.P246S	NPHP1_uc002tfm.2_Missense_Mutation_p.P246S|NPHP1_uc002tfn.2_Missense_Mutation_p.P246S|NPHP1_uc002tfo.2_Missense_Mutation_p.P184S|NPHP1_uc010fjv.1_Missense_Mutation_p.P246S	NM_000272	NP_000263	O15259	NPHP1_HUMAN	nephrocystin-1 isoform 1	246					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2														0.273543	148.168312	158.480048	61	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110279589	110279589	10983	2	G	A	A	41	41	NPHP1	A	2	2
NPHP1	4867	broad.mit.edu	36	2	110284780	110284780	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:110284780C>A	uc002tfl.2	-	c.414G>T	c.(412-414)GAG>GAT	p.E138D	NPHP1_uc002tfm.2_Missense_Mutation_p.E138D|NPHP1_uc002tfn.2_Missense_Mutation_p.E138D|NPHP1_uc002tfo.2_Missense_Mutation_p.E76D|NPHP1_uc010fjv.1_Missense_Mutation_p.E138D	NM_000272	NP_000263	O15259	NPHP1_HUMAN	nephrocystin-1 isoform 1	138	Potential.|Glu-rich.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2														0.376623	74.149776	75.180563	29	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110284780	110284780	10983	2	C	A	A	24	24	NPHP1	A	3	3
BUB1	699	broad.mit.edu	36	2	111113789	111113789	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:111113789A>G	uc002tgc.1	-	c.3062_splice	c.e24+1	p.R1021_splice	BUB1_uc010fkb.1_Splice_Site_SNP_p.R964_splice	NM_004336	NP_004327			budding uninhibited by benzimidazoles 1						apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|protein phosphorylation|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|kidney(1)	3		Ovarian(717;0.0822)								375				0.495798	176.015232	176.017069	59	60	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0556)	Splice_Site_SNP	SNP	111113789	111113789	1604	2	A	G	G	6	6	BUB1	G	5	4
BUB1	699	broad.mit.edu	36	2	111131614	111131614	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:111131614C>T	uc002tgc.1	-	c.1598G>A	c.(1597-1599)GGA>GAA	p.G533E	BUB1_uc010fkb.1_Missense_Mutation_p.G533E	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	533					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|protein phosphorylation|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|kidney(1)	3		Ovarian(717;0.0822)								375				0.347826	62.573827	63.9865	24	45	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0556)	Missense_Mutation	SNP	111131614	111131614	1604	2	C	T	T	30	30	BUB1	T	2	2
ACOXL	55289	broad.mit.edu	36	2	111437675	111437675	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:111437675T>C	uc002tgr.2	+	c.1063T>C	c.(1063-1065)TAC>CAC	p.Y355H	ACOXL_uc010fkc.1_Intron	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	355	FAD (By similarity).				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0										368				0.568627	207.470592	207.891044	58	44	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111437675	111437675	162	2	T	C	C	61	61	ACOXL	C	4	4
ANAPC1	64682	broad.mit.edu	36	2	112336560	112336560	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:112336560C>A	uc002thi.1	-	c.1139G>T	c.(1138-1140)AGA>ATA	p.R380I		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	380					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm					0														0.16129	14.806848	21.58041	10	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112336560	112336560	601	2	C	A	A	32	32	ANAPC1	A	3	3
MERTK	10461	broad.mit.edu	36	2	112495582	112495582	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:112495582G>A	uc002thk.1	+	c.2302G>A	c.(2302-2304)GCC>ACC	p.A768T	MERTK_uc002thl.1_Missense_Mutation_p.A592T	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	768	Protein kinase.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration|protein phosphorylation|visual perception	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|kidney(1)	6										602				0.58794	342.686526	344.028386	117	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112495582	112495582	9868	2	G	A	A	38	38	MERTK	A	1	1
ZC3H8	84524	broad.mit.edu	36	2	112728974	112728974	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:112728974G>A	uc002thp.1	-	c.56C>T	c.(55-57)GCC>GTC	p.A19V		NM_032494	NP_115883	Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	19					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|zinc ion binding				0														0.122449	6.726462	13.556661	6	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112728974	112728974	18162	2	G	A	A	42	42	ZC3H8	A	2	2
ZC3H6	376940	broad.mit.edu	36	2	112784040	112784040	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:112784040C>T	uc002thq.1	+	c.444C>T	c.(442-444)TTC>TTT	p.F148F		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	148							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4														0.405405	41.715372	42.005379	15	22	CC		KEEP	---	---	---	---	capture			Silent	SNP	112784040	112784040	18159	2	C	T	T	31	31	ZC3H6	T	1	1
ZC3H6	376940	broad.mit.edu	36	2	112790622	112790622	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:112790622G>A	uc002thq.1	+	c.852G>A	c.(850-852)GGG>GGA	p.G284G		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	284	C3H1-type 1.						nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4														0.24	14.136926	15.679966	6	19	GG		KEEP	---	---	---	---	capture			Silent	SNP	112790622	112790622	18159	2	G	A	A	41	41	ZC3H6	A	2	2
ZC3H6	376940	broad.mit.edu	36	2	112805625	112805625	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:112805625G>A	uc002thq.1	+	c.2659G>A	c.(2659-2661)GTA>ATA	p.V887I		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	887							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4														0.272727	57.353128	61.456533	24	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112805625	112805625	18159	2	G	A	A	36	36	ZC3H6	A	2	2
SLC20A1	6574	broad.mit.edu	36	2	113121174	113121174	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113121174G>T	uc002tib.1	+	c.298G>T	c.(298-300)GGG>TGG	p.G100W		NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	100	Helical; (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2														0.2	47.225768	57.277355	24	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113121174	113121174	14934	2	G	T	T	35	35	SLC20A1	T	3	3
CKAP2L	150468	broad.mit.edu	36	2	113212925	113212925	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113212925G>A	uc002tie.2	-	c.2184C>T	c.(2182-2184)TTC>TTT	p.F728F	CKAP2L_uc002tif.2_Silent_p.F317F	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	728											0														0.276596	126.00798	134.463169	52	136	GG		KEEP	---	---	---	---	capture			Silent	SNP	113212925	113212925	3579	2	G	A	A	41	41	CKAP2L	A	2	2
IL1F6	27179	broad.mit.edu	36	2	113482055	113482055	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113482055C>A	uc002tip.1	+	c.440C>A	c.(439-441)GCC>GAC	p.A147D		NM_014440	NP_055255	Q9UHA7	IL1F6_HUMAN	interleukin 1 family, member 6 (epsilon)	147					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(2)	2														0.308411	82.645027	86.140367	33	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113482055	113482055	7955	2	C	A	A	26	26	IL1F6	A	3	3
IL1F8	27177	broad.mit.edu	36	2	113500210	113500210	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113500210T>C	uc002tiq.1	-	c.332A>G	c.(331-333)AAC>AGC	p.N111S		NM_014438	NP_055253	Q9NZH7	IL1F8_HUMAN	interleukin 1 family, member 8 isoform 1	111					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(1)	1														0.375	155.953396	157.714104	48	80	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113500210	113500210	7957	2	T	C	C	60	60	IL1F8	C	4	4
IL1F8	27177	broad.mit.edu	36	2	113503100	113503100	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113503100C>T	uc002tiq.1	-	c.148G>A	c.(148-150)GAC>AAC	p.D50N	IL1F8_uc002tir.1_Missense_Mutation_p.D50N	NM_014438	NP_055253	Q9NZH7	IL1F8_HUMAN	interleukin 1 family, member 8 isoform 1	50					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(1)	1														0.259542	85.378461	92.246983	34	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113503100	113503100	7957	2	C	T	T	32	32	IL1F8	T	2	2
PSD4	23550	broad.mit.edu	36	2	113657015	113657015	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113657015G>A	uc002tjc.1	+	c.511G>A	c.(511-513)GAG>AAG	p.E171K	PSD4_uc002tjd.1_5'UTR|PSD4_uc002tje.1_Missense_Mutation_p.E170K|PSD4_uc002tjf.1_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	171					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2														0.213415	74.343279	86.782756	35	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113657015	113657015	13102	2	G	A	A	41	41	PSD4	A	2	2
PAX8	7849	broad.mit.edu	36	2	113718504	113718504	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113718504T>C	uc002tjk.1	-	c.359A>G	c.(358-360)GAC>GGC	p.D120G	PAX8_uc002tjj.1_Missense_Mutation_p.D120G|PAX8_uc002tjl.1_Missense_Mutation_p.D120G|PAX8_uc002tjm.1_Missense_Mutation_p.D120G|PAX8_uc002tjn.1_Missense_Mutation_p.D120G|LOC654433_uc002tjq.2_Intron|LOC654433_uc010fks.1_Intron|LOC654433_uc010fkt.1_Intron|LOC654433_uc002tjr.2_Intron|PAX8_uc010fku.1_Missense_Mutation_p.D120G	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	120	Paired.				mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gene-specific transcription|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity|transcription activator activity			ovary(1)	1						Ovarian(188;7 2067 9084 29802 29892)				171				0.602151	744.462226	747.864067	224	148	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113718504	113718504	11905	2	T	C	C	58	58	PAX8	C	4	4
CBWD2	150472	broad.mit.edu	36	2	113936532	113936532	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113936532C>T	uc002tju.1	+	c.653C>T	c.(652-654)GCG>GTG	p.A218V	CBWD2_uc002tjv.1_Missense_Mutation_p.A182V|CBWD2_uc010fkv.1_Non-coding_Transcript|CBWD2_uc010fkw.1_Missense_Mutation_p.A218V	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN	COBW domain-containing protein 2	218							ATP binding|protein binding				0														0.222222	67.426088	77.64832	32	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113936532	113936532	2832	2	C	T	T	27	27	CBWD2	T	1	1
SLC35F5	80255	broad.mit.edu	36	2	114208661	114208661	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:114208661G>T	uc002tku.1	-	c.892C>A	c.(892-894)CTT>ATT	p.L298I	SLC35F5_uc002tkt.1_Non-coding_Transcript	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	298	DUF6.|Helical; (Potential).				transport	integral to membrane					0														0.52809	136.019367	136.079739	47	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114208661	114208661	15089	2	G	T	T	35	35	SLC35F5	T	3	3
ACTR3	10096	broad.mit.edu	36	2	114387250	114387250	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:114387250G>T	uc002tkx.1	+	c.76G>T	c.(76-78)GAA>TAA	p.E26*		NM_005721	NP_005712	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog	26					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding				0														0.532609	136.45821	136.541749	49	43	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	114387250	114387250	213	2	G	T	T	33	33	ACTR3	T	5	3
ACTR3	10096	broad.mit.edu	36	2	114401485	114401485	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:114401485G>A	uc002tkx.1	+	c.319G>A	c.(319-321)GAC>AAC	p.D107N		NM_005721	NP_005712	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog	107					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding				0														0.289256	88.169193	92.990581	35	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114401485	114401485	213	2	G	A	A	33	33	ACTR3	A	2	2
E2F6	1876	broad.mit.edu	36	2	11511194	11511194	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:11511194G>A	uc002rbh.1	-	c.345C>T	c.(343-345)CTC>CTT	p.L115L	E2F6_uc002rbe.1_Silent_p.L40L|E2F6_uc002rbf.1_Silent_p.L83L|E2F6_uc002rbg.1_Silent_p.L40L|E2F6_uc002rbi.1_Silent_p.L40L|E2F6_uc002rbj.1_Non-coding_Transcript	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	115	Potential.|DEF box.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.295203	198.286964	208.460735	80	191	GG		KEEP	---	---	---	---	capture		Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)	Silent	SNP	11511194	11511194	5057	2	G	A	A	37	37	E2F6	A	1	1
E2F6	1876	broad.mit.edu	36	2	11511257	11511257	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:11511257C>T	uc002rbh.1	-	c.282G>A	c.(280-282)ACG>ACA	p.T94T	E2F6_uc002rbe.1_Silent_p.T19T|E2F6_uc002rbf.1_Silent_p.T62T|E2F6_uc002rbg.1_Silent_p.T19T|E2F6_uc002rbi.1_Silent_p.T19T|E2F6_uc002rbj.1_Non-coding_Transcript	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	94	Potential.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.573123	431.291033	432.46882	145	108	CC		KEEP	---	---	---	---	capture		Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)	Silent	SNP	11511257	11511257	5057	2	C	T	T	31	31	E2F6	T	1	1
DPP10	57628	broad.mit.edu	36	2	115783292	115783292	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:115783292G>A	uc002tla.1	+	c.68G>A	c.(67-69)GGA>GAA	p.G23E	DPP10_uc002tlb.1_5'UTR|DPP10_uc002tlc.1_Missense_Mutation_p.G19E|DPP10_uc002tle.1_5'UTR|DPP10_uc002tlf.1_Missense_Mutation_p.G16E	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	23	Mediates effects on KCND2.|Cytoplasmic (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.231481	56.124581	63.256633	25	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115783292	115783292	4911	2	G	A	A	41	41	DPP10	A	2	2
GREB1	9687	broad.mit.edu	36	2	11635967	11635967	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:11635967C>A	uc002rbk.1	+	c.731C>A	c.(730-732)CCT>CAT	p.P244H	GREB1_uc002rbl.1_Missense_Mutation_p.P244H|GREB1_uc002rbm.2_Missense_Mutation_p.P134H|GREB1_uc002rbn.1_Missense_Mutation_p.P244H	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	GREB1 protein isoform a	244						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					Ovarian(39;850 945 2785 23371 33093)								0.311111	134.315884	140.046	56	124	CC		KEEP	---	---	---	---	capture		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	Missense_Mutation	SNP	11635967	11635967	7037	2	C	A	A	24	24	GREB1	A	3	3
LPIN1	23175	broad.mit.edu	36	2	11825409	11825409	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:11825409T>G	uc002rbt.1	+	c.262T>G	c.(262-264)TTT>GTT	p.F88V	LPIN1_uc002rbs.2_Missense_Mutation_p.F88V	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	88	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.296296	118.963009	123.963654	40	95	TT		KEEP	---	---	---	---	capture		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	Missense_Mutation	SNP	11825409	11825409	9291	2	T	G	G	64	64	LPIN1	G	4	4
CCDC93	54520	broad.mit.edu	36	2	118426434	118426434	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:118426434C>T	uc002tlj.1	-	c.1053G>A	c.(1051-1053)AAG>AAA	p.K351K	CCDC93_uc010fld.1_Silent_p.K351K	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	351	Potential.									large_intestine(1)|ovary(1)	2												OREG0003818	type=REGULATORY REGION|Gene=AK001858|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.46087	156.247338	156.402134	53	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	118426434	118426434	2997	2	C	T	T	32	32	CCDC93	T	2	2
CCDC93	54520	broad.mit.edu	36	2	118460096	118460096	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:118460096C>T	uc002tlj.1	-	c.539G>A	c.(538-540)CGG>CAG	p.R180Q	CCDC93_uc010fld.1_Missense_Mutation_p.R180Q	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	180										large_intestine(1)|ovary(1)	2														0.260606	106.050561	114.610989	43	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118460096	118460096	2997	2	C	T	T	23	23	CCDC93	T	1	1
LPIN1	23175	broad.mit.edu	36	2	11862124	11862124	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:11862124C>A	uc002rbt.1	+	c.2030C>A	c.(2029-2031)TCT>TAT	p.S677Y		NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	677	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.253623	75.942082	83.561524	35	103	CC		KEEP	---	---	---	---	capture		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	Missense_Mutation	SNP	11862124	11862124	9291	2	C	A	A	32	32	LPIN1	A	3	3
LPIN1	23175	broad.mit.edu	36	2	11878091	11878091	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:11878091C>T	uc002rbt.1	+	c.2513C>T	c.(2512-2514)TCG>TTG	p.S838L		NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	838					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.234694	51.777827	58.087091	23	75	CC		KEEP	---	---	---	---	capture		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	Missense_Mutation	SNP	11878091	11878091	9291	2	C	T	T	31	31	LPIN1	T	1	1
MARCO	8685	broad.mit.edu	36	2	119443240	119443240	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:119443240C>T	uc002tln.1	+	c.132C>T	c.(130-132)TTC>TTT	p.F44F		NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	44	Helical; Signal-anchor for type II membrane protein; (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.227488	112.688264	127.070461	48	163	CC		KEEP	---	---	---	---	capture			Silent	SNP	119443240	119443240	9694	2	C	T	T	32	32	MARCO	T	2	2
STEAP3	55240	broad.mit.edu	36	2	119705081	119705081	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:119705081G>A	uc002tlq.1	+	c.22_splice	c.e2+1	p.A8_splice	STEAP3_uc002tlp.1_Intron|STEAP3_uc002tlr.1_Intron|STEAP3_uc010fle.1_Intron	NM_182915	NP_060704			dudulin 2 isoform a						apoptosis|cell cycle|cellular iron ion homeostasis|oxidation-reduction process|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)	2														0.285714	65.698186	69.714593	28	70	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	119705081	119705081	15799	2	G	A	A	44	44	STEAP3	A	5	2
STEAP3	55240	broad.mit.edu	36	2	119719846	119719846	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:119719846C>A	uc002tlq.1	+	c.334C>A	c.(334-336)CTC>ATC	p.L112I	STEAP3_uc002tlp.1_Missense_Mutation_p.L102I|STEAP3_uc002tlr.1_Missense_Mutation_p.L102I|STEAP3_uc010fle.1_Missense_Mutation_p.L102I	NM_182915	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform a	102	Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|oxidation-reduction process|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)	2														0.516484	125.808046	125.828897	47	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119719846	119719846	15799	2	C	A	A	32	32	STEAP3	A	3	3
SCTR	6344	broad.mit.edu	36	2	119968578	119968578	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:119968578C>T	uc002tma.1	-	c.89G>A	c.(88-90)CGA>CAA	p.R30Q		NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	30	Extracellular (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)	1					Secretin(DB00021)									0.564516	103.426654	103.650822	35	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119968578	119968578	14426	2	C	T	T	31	31	SCTR	T	1	1
PCDP1	200373	broad.mit.edu	36	2	120078997	120078997	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120078997G>T	uc002tmb.1	+	c.130G>T	c.(130-132)GAA>TAA	p.E44*		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	330						cilium	calmodulin binding				0	Colorectal(110;0.196)													0.515306	276.343526	276.38226	101	95	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	120078997	120078997	11992	2	G	T	T	33	33	PCDP1	T	5	3
PCDP1	200373	broad.mit.edu	36	2	120099630	120099630	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120099630T>C	uc002tmb.1	+	c.554T>C	c.(553-555)GTC>GCC	p.V185A		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	471						cilium	calmodulin binding				0	Colorectal(110;0.196)													0.382979	56.437257	57.001939	18	29	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120099630	120099630	11992	2	T	C	C	58	58	PCDP1	C	4	4
PCDP1	200373	broad.mit.edu	36	2	120103932	120103932	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120103932C>T	uc002tmb.1	+	c.804C>T	c.(802-804)GGC>GGT	p.G268G		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	554						cilium	calmodulin binding				0	Colorectal(110;0.196)													0.300813	89.821635	94.184515	37	86	CC		KEEP	---	---	---	---	capture			Silent	SNP	120103932	120103932	11992	2	C	T	T	26	26	PCDP1	T	2	2
TMEM177	80775	broad.mit.edu	36	2	120155080	120155080	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120155080C>T	uc010flg.1	+	c.181C>T	c.(181-183)CTG>TTG	p.L61L	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.L61L|TMEM177_uc002tmd.2_Silent_p.L61L|TMEM177_uc010flh.1_Silent_p.L61L|TMEM177_uc010fli.1_Silent_p.L61L	NM_001105198	NP_085054	Q53S58	TM177_HUMAN	transmembrane protein 177	61						integral to membrane				ovary(1)	1	Colorectal(110;0.196)													0.221374	187.998803	216.095133	87	306	CC		KEEP	---	---	---	---	capture			Silent	SNP	120155080	120155080	16628	2	C	T	T	28	28	TMEM177	T	2	2
PTPN4	5775	broad.mit.edu	36	2	120359863	120359863	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120359863G>T	uc002tmf.1	+	c.610G>T	c.(610-612)GAA>TAA	p.E204*	PTPN4_uc010flj.1_5'UTR	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	204	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)									0.16996	70.549016	96.647943	43	210	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	120359863	120359863	13247	2	G	T	T	33	33	PTPN4	T	5	3
PTPN4	5775	broad.mit.edu	36	2	120439682	120439682	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120439682T>G	uc002tmf.1	+	c.2549T>G	c.(2548-2550)GTC>GGC	p.V850G	PTPN4_uc010flj.1_Missense_Mutation_p.V563G	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	850	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)									0.523316	347.234589	347.324473	101	92	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120439682	120439682	13247	2	T	G	G	58	58	PTPN4	G	4	4
RALB	5899	broad.mit.edu	36	2	120760121	120760121	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120760121G>A	uc002tml.1	+	c.379G>A	c.(379-381)GAA>AAA	p.E127K	RALB_uc002tmk.1_Missense_Mutation_p.E106K|RALB_uc002tmm.1_Non-coding_Transcript	NM_002881	NP_002872	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	106					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(1)	1		Prostate(154;0.122)							p.E127K(BDCM-Tumor)	52				0.581197	204.107505	204.779013	68	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120760121	120760121	13471	2	G	A	A	37	37	RALB	A	1	1
INHBB	3625	broad.mit.edu	36	2	120820591	120820591	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120820591C>T	uc002tmn.2	+	c.357C>T	c.(355-357)GGC>GGT	p.G119G		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	119					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)	2		Prostate(154;0.122)												0.608696	40.351117	40.588535	14	9	CC		KEEP	---	---	---	---	capture			Silent	SNP	120820591	120820591	8043	2	C	T	T	26	26	INHBB	T	2	2
INHBB	3625	broad.mit.edu	36	2	120823916	120823916	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120823916C>T	uc002tmn.2	+	c.1220C>T	c.(1219-1221)GCC>GTC	p.A407V		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	407					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)	2		Prostate(154;0.122)												0.3	31.196542	32.619227	12	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120823916	120823916	8043	2	C	T	T	26	26	INHBB	T	2	2
GLI2	2736	broad.mit.edu	36	2	121401438	121401438	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121401438G>A	uc010flp.1	+	c.180G>A	c.(178-180)GCG>GCA	p.A60A	GLI2_uc002tmp.1_Silent_p.A60A|GLI2_uc010fln.1_Non-coding_Transcript|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.2_Intron|GLI2_uc002tmu.2_Intron|GLI2_uc002tmv.1_Silent_p.A60A|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Silent_p.A60A	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	60					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 transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.232376	181.564286	206.644781	89	294	GG		KEEP	---	---	---	---	capture			Silent	SNP	121401438	121401438	6706	2	G	A	A	38	38	GLI2	A	1	1
GLI2	2736	broad.mit.edu	36	2	121462312	121462312	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121462312G>A	uc010flp.1	+	c.2352G>A	c.(2350-2352)CCG>CCA	p.P784P	GLI2_uc002tmq.1_Silent_p.P456P|GLI2_uc002tmr.1_Silent_p.P439P|GLI2_uc002tmt.2_Silent_p.P456P|GLI2_uc002tmu.2_Silent_p.P439P	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	784					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 transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.210526	7.588064	9.062751	4	15	GG		KEEP	---	---	---	---	capture			Silent	SNP	121462312	121462312	6706	2	G	A	A	37	37	GLI2	A	1	1
GLI2	2736	broad.mit.edu	36	2	121463413	121463413	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121463413C>T	uc010flp.1	+	c.3453C>T	c.(3451-3453)TCC>TCT	p.S1151S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.2_Silent_p.S823S|GLI2_uc002tmu.2_Silent_p.S806S	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1151					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 transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.336957	82.929223	85.076983	31	61	CC		KEEP	---	---	---	---	capture			Silent	SNP	121463413	121463413	6706	2	C	T	T	23	23	GLI2	T	1	1
GLI2	2736	broad.mit.edu	36	2	121464034	121464034	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121464034G>A	uc010flp.1	+	c.4074G>A	c.(4072-4074)CCG>CCA	p.P1358P	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.2_Silent_p.P1030P|GLI2_uc002tmu.2_Silent_p.P1013P	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1358					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 transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.295455	31.356681	33.004376	13	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	121464034	121464034	6706	2	G	A	A	37	37	GLI2	A	1	1
GLI2	2736	broad.mit.edu	36	2	121464231	121464231	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121464231T>C	uc010flp.1	+	c.4271T>C	c.(4270-4272)ATG>ACG	p.M1424T	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.2_Missense_Mutation_p.M1096T|GLI2_uc002tmu.2_Missense_Mutation_p.M1079T	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1424					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 transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.302326	68.703826	71.716538	26	60	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121464231	121464231	6706	2	T	C	C	51	51	GLI2	C	4	4
GLI2	2736	broad.mit.edu	36	2	121464393	121464393	+	Missense_Mutation	SNP	C	T	T	rs2677522	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121464393C>T	uc010flp.1	+	c.4433C>T	c.(4432-4434)GCC>GTC	p.A1478V	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.2_Missense_Mutation_p.A1150V|GLI2_uc002tmu.2_Missense_Mutation_p.A1133V	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1478					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 transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.555556	279.385765	279.866751	100	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121464393	121464393	6706	2	C	T	T	26	26	GLI2	T	2	2
TFCP2L1	29842	broad.mit.edu	36	2	121708167	121708167	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121708167G>A	uc002tmx.1	-	c.1168C>T	c.(1168-1170)CGG>TGG	p.R390W	TFCP2L1_uc010flq.1_Non-coding_Transcript|TFCP2L1_uc010flr.1_Missense_Mutation_p.R390W	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	390					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)													0.594286	290.767165	292.11743	104	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121708167	121708167	16324	2	G	A	A	38	38	TFCP2L1	A	1	1
TFCP2L1	29842	broad.mit.edu	36	2	121722234	121722234	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121722234C>T	uc002tmx.1	-	c.480G>A	c.(478-480)GCG>GCA	p.A160A	TFCP2L1_uc010flr.1_Silent_p.A160A	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	160					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)													0.365385	50.709756	51.538955	19	33	CC		KEEP	---	---	---	---	capture			Silent	SNP	121722234	121722234	16324	2	C	T	T	31	31	TFCP2L1	T	1	1
CLASP1	23332	broad.mit.edu	36	2	121872419	121872419	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121872419A>G	uc002tnc.1	-	c.2928T>C	c.(2926-2928)TTT>TTC	p.F976F	CLASP1_uc002tmz.1_Silent_p.F61F|CLASP1_uc002tna.1_Silent_p.F61F|CLASP1_uc002tnb.1_Non-coding_Transcript|CLASP1_uc002tnd.1_Non-coding_Transcript|CLASP1_uc002tne.1_Non-coding_Transcript	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	976	HEAT 5.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)													0.210526	11.190872	12.66243	4	15	AA		KEEP	---	---	---	---	capture			Silent	SNP	121872419	121872419	3590	2	A	G	G	13	13	CLASP1	G	4	4
CLASP1	23332	broad.mit.edu	36	2	121922324	121922324	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121922324C>T	uc002tnc.1	-	c.1739G>A	c.(1738-1740)AGA>AAA	p.R580K	CLASP1_uc002tna.1_5'UTR|CLASP1_uc002tnb.1_Non-coding_Transcript|CLASP1_uc002tnd.1_Non-coding_Transcript|CLASP1_uc002tne.1_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.R580K	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	580	Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)													0.278261	82.927305	88.032038	32	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121922324	121922324	3590	2	C	T	T	32	32	CLASP1	T	2	2
CNTNAP5	129684	broad.mit.edu	36	2	124920954	124920954	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:124920954C>T	uc002tno.1	+	c.888C>T	c.(886-888)GGC>GGT	p.G296G	CNTNAP5_uc010flu.1_Silent_p.G296G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	296	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10														0.279221	98.757926	105.51159	43	111	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.248)	Silent	SNP	124920954	124920954	3788	2	C	T	T	27	27	CNTNAP5	T	1	1
CNTNAP5	129684	broad.mit.edu	36	2	125121815	125121815	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:125121815C>A	uc002tno.1	+	c.1884C>A	c.(1882-1884)ATC>ATA	p.I628I	CNTNAP5_uc010flu.1_Silent_p.I629I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	628	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10														0.217391	20.423205	23.812987	10	36	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.248)	Silent	SNP	125121815	125121815	3788	2	C	A	A	32	32	CNTNAP5	A	3	3
CNTNAP5	129684	broad.mit.edu	36	2	125388250	125388250	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:125388250A>G	uc002tno.1	+	c.3836A>G	c.(3835-3837)TAT>TGT	p.Y1279C		NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1279	Cytoplasmic (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10														0.51087	313.45971	313.478926	94	90	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.248)	Missense_Mutation	SNP	125388250	125388250	3788	2	A	G	G	16	16	CNTNAP5	G	4	4
BIN1	274	broad.mit.edu	36	2	127524860	127524860	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127524860A>G	uc002tns.1	-	c.1560T>C	c.(1558-1560)GGT>GGC	p.G520G	BIN1_uc002tnu.1_Silent_p.G351G|BIN1_uc002toa.1_Silent_p.G409G|BIN1_uc002tnt.1_Silent_p.G336G|BIN1_uc002tnv.1_Silent_p.G477G|BIN1_uc002tnw.1_Silent_p.G424G|BIN1_uc002tnx.1_Silent_p.G381G|BIN1_uc002tny.1_Silent_p.G433G|BIN1_uc002tnz.1_Silent_p.G445G|BIN1_uc002tob.1_Silent_p.G366G|BIN1_uc002toc.1_Silent_p.G402G	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	520	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|lung(1)|skin(1)	6	Colorectal(110;0.0831)											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.569536	294.448267	295.083526	86	65	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.073)	Silent	SNP	127524860	127524860	1457	2	A	G	G	2	2	BIN1	G	4	4
BIN1	274	broad.mit.edu	36	2	127536191	127536191	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127536191C>T	uc002tns.1	-	c.827G>A	c.(826-828)AGC>AAC	p.S276N	BIN1_uc002tnu.1_Missense_Mutation_p.S245N|BIN1_uc002toa.1_Missense_Mutation_p.S245N|BIN1_uc002tnt.1_Missense_Mutation_p.S245N|BIN1_uc002tnv.1_Missense_Mutation_p.S276N|BIN1_uc002tnw.1_Missense_Mutation_p.S245N|BIN1_uc002tnx.1_Missense_Mutation_p.S245N|BIN1_uc002tny.1_Missense_Mutation_p.S276N|BIN1_uc002tnz.1_Missense_Mutation_p.S245N|BIN1_uc002tob.1_Missense_Mutation_p.S245N|BIN1_uc002toc.1_Missense_Mutation_p.S245N	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	276	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|lung(1)|skin(1)	6	Colorectal(110;0.0831)													0.482759	41.946892	41.954468	14	15	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.073)	Missense_Mutation	SNP	127536191	127536191	1457	2	C	T	T	28	28	BIN1	T	2	2
CYP27C1	339761	broad.mit.edu	36	2	127661337	127661337	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127661337G>A	uc002tod.2	-	c.1099C>T	c.(1099-1101)CGA>TGA	p.R367*		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	367					oxidation-reduction process	membrane	electron carrier activity|heme binding|monooxygenase activity				0	Colorectal(110;0.1)													0.209302	52.354369	62.448435	27	102	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.071)	Nonsense_Mutation	SNP	127661337	127661337	4325	2	G	A	A	38	38	CYP27C1	A	5	1
CYP27C1	339761	broad.mit.edu	36	2	127675297	127675297	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127675297C>A	uc002tod.2	-	c.259G>T	c.(259-261)GCC>TCC	p.A87S		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	87					oxidation-reduction process	membrane	electron carrier activity|heme binding|monooxygenase activity				0	Colorectal(110;0.1)													0.190476	75.334207	94.105276	40	170	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.071)	Missense_Mutation	SNP	127675297	127675297	4325	2	C	A	A	26	26	CYP27C1	A	3	3
ERCC3	2071	broad.mit.edu	36	2	127760955	127760955	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127760955T>G	uc002toh.1	-	c.1136A>C	c.(1135-1137)AAG>ACG	p.K379T	ERCC3_uc002toe.1_Missense_Mutation_p.K134T|ERCC3_uc002tof.1_Missense_Mutation_p.K315T|ERCC3_uc002tog.1_Missense_Mutation_p.K315T|ERCC3_uc010flx.1_Missense_Mutation_p.K134T	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	379	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(1)|lung(1)|breast(1)|kidney(1)	4	Colorectal(110;0.1)									281				0.235602	107.572389	119.78918	45	146	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.073)	Missense_Mutation	SNP	127760955	127760955	5407	2	T	G	G	56	56	ERCC3	G	4	4
PROC	5624	broad.mit.edu	36	2	127895367	127895367	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127895367C>A	uc002tom.1	+	c.109C>A	c.(109-111)CTG>ATG	p.L37M	PROC_uc002tok.1_Missense_Mutation_p.L37M|PROC_uc002tol.1_Missense_Mutation_p.L58M	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va	37					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)				Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)									0.306667	113.398092	118.395746	46	104	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0673)	Missense_Mutation	SNP	127895367	127895367	12988	2	C	A	A	28	28	PROC	A	3	3
PROC	5624	broad.mit.edu	36	2	127900152	127900152	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127900152C>T	uc002tom.1	+	c.659C>T	c.(658-660)CCC>CTC	p.P220L	PROC_uc002tok.1_Missense_Mutation_p.P186L|PROC_uc002tol.1_Missense_Mutation_p.P207L	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va	186					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)				Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)									0.458716	155.038475	155.200265	50	59	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0673)	Missense_Mutation	SNP	127900152	127900152	12988	2	C	T	T	22	22	PROC	T	2	2
PROC	5624	broad.mit.edu	36	2	127902680	127902680	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127902680C>T	uc002tom.1	+	c.1176C>T	c.(1174-1176)TTC>TTT	p.F392F	PROC_uc002tok.1_Silent_p.F358F|PROC_uc002tol.1_Silent_p.F379F	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va	358	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)				Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)									0.298361	222.20457	233.291223	91	214	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0673)	Silent	SNP	127902680	127902680	12988	2	C	T	T	31	31	PROC	T	1	1
IWS1	55677	broad.mit.edu	36	2	127979569	127979569	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127979569T>G	uc002ton.1	-	c.380A>C	c.(379-381)AAA>ACA	p.K127T	IWS1_uc010fma.1_5'UTR	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	127	Glu-rich.					nucleus	DNA binding|transcription regulator activity			ovary(1)	1	Colorectal(110;0.1)													0.31307	317.936108	328.152058	103	226	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0735)	Missense_Mutation	SNP	127979569	127979569	8235	2	T	G	G	64	64	IWS1	G	4	4
MYO7B	4648	broad.mit.edu	36	2	128105389	128105389	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128105389C>T	uc002top.1	+	c.4998C>T	c.(4996-4998)ATC>ATT	p.I1666I	MYO7B_uc002tor.1_Silent_p.I519I|MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.1_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1666	SH3 2.|MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)													0.285714	28.284156	30.014237	12	30	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0753)	Silent	SNP	128105389	128105389	10478	2	C	T	T	31	31	MYO7B	T	1	1
MYO7B	4648	broad.mit.edu	36	2	128106391	128106391	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128106391C>T	uc002top.1	+	c.5272C>T	c.(5272-5274)CGG>TGG	p.R1758W	MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.1_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1758	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)													0.536082	150.594021	150.703028	52	45	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0753)	Missense_Mutation	SNP	128106391	128106391	10478	2	C	T	T	31	31	MYO7B	T	1	1
MYO7B	4648	broad.mit.edu	36	2	128110282	128110282	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128110282G>T	uc002top.1	+	c.5958G>T	c.(5956-5958)AAG>AAT	p.K1986N	MYO7B_uc002tos.1_Missense_Mutation_p.K96N|MYO7B_uc002tot.1_Missense_Mutation_p.K96N	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1986	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)													0.455285	152.171507	152.387208	56	67	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0753)	Missense_Mutation	SNP	128110282	128110282	10478	2	G	T	T	35	35	MYO7B	T	3	3
UGGT1	56886	broad.mit.edu	36	2	128595267	128595267	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128595267G>A	uc002tps.1	+	c.998G>A	c.(997-999)CGA>CAA	p.R333Q	UGGT1_uc010fme.1_Missense_Mutation_p.R208Q|UGGT1_uc002tpr.1_Missense_Mutation_p.R309Q	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	333					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1														0.614907	299.14716	301.008705	99	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128595267	128595267	17499	2	G	A	A	37	37	UGGT1	A	1	1
UGGT1	56886	broad.mit.edu	36	2	128638781	128638781	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128638781G>A	uc002tps.1	+	c.2833G>A	c.(2833-2835)GAC>AAC	p.D945N	UGGT1_uc010fme.1_Missense_Mutation_p.D820N|UGGT1_uc002tpr.1_Missense_Mutation_p.D921N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	945					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1														0.271845	68.055391	72.889501	28	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128638781	128638781	17499	2	G	A	A	37	37	UGGT1	A	1	1
POTEF	728378	broad.mit.edu	36	2	130560017	130560017	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:130560017C>T	uc010fmh.1	-	c.1618G>A	c.(1618-1620)GAA>AAA	p.E540K	POTEF_uc010fmg.1_Missense_Mutation_p.E4K|POTEF_uc010fmi.1_Non-coding_Transcript|POTEF_uc010fmj.1_Non-coding_Transcript	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	540						cell cortex	ATP binding			ovary(2)|skin(1)	3														0.956522	144.210452	145.550465	44	2	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130560017	130560017	12695	2	C	T	T	31	31	POTEF	T	1	1
POTEF	728378	broad.mit.edu	36	2	130594306	130594306	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:130594306C>A	uc010fmh.1	-	c.253G>T	c.(253-255)GAC>TAC	p.D85Y	POTEF_uc010fmi.1_Non-coding_Transcript|POTEF_uc010fmj.1_Non-coding_Transcript	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	85						cell cortex	ATP binding			ovary(2)|skin(1)	3														0.506702	502.540445	502.553189	189	184	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130594306	130594306	12695	2	C	A	A	32	32	POTEF	A	3	3
POTEF	728378	broad.mit.edu	36	2	130594428	130594428	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:130594428C>T	uc010fmh.1	-	c.131G>A	c.(130-132)GGC>GAC	p.G44D	POTEF_uc010fmi.1_Non-coding_Transcript|POTEF_uc010fmj.1_Non-coding_Transcript	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	44						cell cortex	ATP binding			ovary(2)|skin(1)	3														0.230769	168.666683	192.03073	81	270	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130594428	130594428	12695	2	C	T	T	26	26	POTEF	T	2	2
CCDC74B	91409	broad.mit.edu	36	2	130614298	130614298	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:130614298C>T	uc002tqm.1	-	c.800G>A	c.(799-801)CGA>CAA	p.R267Q	CCDC74B_uc002tqn.1_Missense_Mutation_p.R201Q	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	267											0	Colorectal(110;0.1)													0.295238	150.870314	158.746966	62	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130614298	130614298	2971	2	C	T	T	31	31	CCDC74B	T	1	1
CCDC115	84317	broad.mit.edu	36	2	130815723	130815723	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:130815723C>T	uc002tqy.1	-	c.285G>A	c.(283-285)GGG>GGA	p.G95G	CCDC115_uc002tqw.1_Silent_p.G87G|CCDC115_uc002tqx.1_Silent_p.G90G|CCDC115_uc002tqz.1_Silent_p.G95G|IMP4_uc002tra.1_5'Flank	NM_032357	NP_115733	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	95						endosome|lysosome					0	Colorectal(110;0.1)													0.428571	115.537387	115.971995	42	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	130815723	130815723	2872	2	C	T	T	26	26	CCDC115	T	2	2
GPR148	344561	broad.mit.edu	36	2	131203909	131203909	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:131203909T>G	uc002trv.1	+	c.715T>G	c.(715-717)TTC>GTC	p.F239V		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	239	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Colorectal(110;0.1)													0.280992	198.211244	208.634785	68	174	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131203909	131203909	6928	2	T	G	G	64	64	GPR148	G	4	4
ARHGEF4	50649	broad.mit.edu	36	2	131514457	131514457	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:131514457G>A	uc002tsa.1	+	c.1078G>A	c.(1078-1080)GAG>AAG	p.E360K	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.E360K|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	360	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)												0.333333	7.822329	8.043571	3	6	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.097)	Missense_Mutation	SNP	131514457	131514457	923	2	G	A	A	37	37	ARHGEF4	A	1	1
ACMSD	130013	broad.mit.edu	36	2	135319274	135319274	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135319274G>T	uc002ttz.1	+	c.59G>T	c.(58-60)AGG>ATG	p.R20M	ACMSD_uc002tua.1_De_novo_Start_OutOfFrame	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	20					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding				0														0.248677	105.021	115.889352	47	142	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.115)	Missense_Mutation	SNP	135319274	135319274	145	2	G	T	T	35	35	ACMSD	T	3	3
CCNT2	905	broad.mit.edu	36	2	135413104	135413104	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135413104T>C	uc002tuc.1	+	c.430_splice	c.e4+2	p.G144_splice	CCNT2_uc002tub.1_Splice_Site_SNP_p.G144_splice|CCNT2_uc002tud.1_Splice_Site_SNP	NM_058241	NP_490595			cyclin T2 isoform b						cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				ovary(2)|lung(1)	3														0.206452	84.832162	97.197433	32	123	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.107)	Splice_Site_SNP	SNP	135413104	135413104	3062	2	T	C	C	57	57	CCNT2	C	5	4
CCNT2	905	broad.mit.edu	36	2	135427821	135427821	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135427821G>T	uc002tuc.1	+	c.1326G>T	c.(1324-1326)AAG>AAT	p.K442N	CCNT2_uc002tub.1_Missense_Mutation_p.K442N|CCNT2_uc002tud.1_Missense_Mutation_p.K105N	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	442					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				ovary(2)|lung(1)	3														0.246154	69.829693	77.463331	32	98	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.107)	Missense_Mutation	SNP	135427821	135427821	3062	2	G	T	T	34	34	CCNT2	T	3	3
YSK4	80122	broad.mit.edu	36	2	135461694	135461694	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135461694C>A	uc002tue.1	-	c.1218G>T	c.(1216-1218)CAG>CAT	p.Q406H	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.Q293H|YSK4_uc002tuh.2_Missense_Mutation_p.Q134H|YSK4_uc002tui.2_Missense_Mutation_p.Q423H	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	406					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5										411				0.578947	351.775699	352.907058	121	88	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.112)	Missense_Mutation	SNP	135461694	135461694	18078	2	C	A	A	24	24	YSK4	A	3	3
YSK4	80122	broad.mit.edu	36	2	135473023	135473023	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135473023G>A	uc002tue.1	-	c.329C>T	c.(328-330)TCG>TTG	p.S110L	YSK4_uc002tuf.1_Missense_Mutation_p.S110L|YSK4_uc010fnc.1_Missense_Mutation_p.S110L|YSK4_uc010fnd.1_Intron|YSK4_uc002tui.2_Missense_Mutation_p.S127L|YSK4_uc010fne.1_Missense_Mutation_p.S82L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	110					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5										411				0.322404	151.958316	157.085033	59	124	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.112)	Missense_Mutation	SNP	135473023	135473023	18078	2	G	A	A	37	37	YSK4	A	1	1
RAB3GAP1	22930	broad.mit.edu	36	2	135598273	135598273	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135598273G>A	uc010fnf.1	+	c.817G>A	c.(817-819)GAA>AAA	p.E273K	RAB3GAP1_uc002tuj.1_Missense_Mutation_p.E273K|RAB3GAP1_uc010fng.1_Missense_Mutation_p.E98K|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	273						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2														0.240602	69.811718	78.000697	32	101	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.117)	Missense_Mutation	SNP	135598273	135598273	13394	2	G	A	A	37	37	RAB3GAP1	A	1	1
RAB3GAP1	22930	broad.mit.edu	36	2	135600258	135600258	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135600258G>A	uc010fnf.1	+	c.868G>A	c.(868-870)GAA>AAA	p.E290K	RAB3GAP1_uc002tuj.1_Missense_Mutation_p.E290K|RAB3GAP1_uc010fng.1_Missense_Mutation_p.E115K|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	290						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2														0.493827	233.38732	233.392805	80	82	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.117)	Missense_Mutation	SNP	135600258	135600258	13394	2	G	A	A	37	37	RAB3GAP1	A	1	1
ZRANB3	84083	broad.mit.edu	36	2	135704812	135704812	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135704812G>A	uc002tum.1	-	c.1695C>T	c.(1693-1695)ATC>ATT	p.I565I	ZRANB3_uc002tuk.1_Silent_p.I108I|ZRANB3_uc002tul.1_Silent_p.I565I	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	565						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding				0														0.530702	358.076839	358.263417	121	107	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.135)	Silent	SNP	135704812	135704812	18828	2	G	A	A	37	37	ZRANB3	A	1	1
R3HDM1	23518	broad.mit.edu	36	2	136105909	136105909	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136105909G>A	uc002tuo.1	+	c.566G>A	c.(565-567)CGT>CAT	p.R189H	R3HDM1_uc010fni.1_Missense_Mutation_p.R187H|R3HDM1_uc002tup.1_Missense_Mutation_p.R133H	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	189	R3H.						nucleic acid binding				0														0.574879	347.529312	348.538759	119	88	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.127)	Missense_Mutation	SNP	136105909	136105909	13346	2	G	A	A	40	40	R3HDM1	A	1	1
UBXN4	23190	broad.mit.edu	36	2	136244753	136244753	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136244753G>A	uc002tur.1	+	c.800G>A	c.(799-801)CGT>CAT	p.R267H	UBXN4_uc002tus.1_Missense_Mutation_p.R33H	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	267	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding				0														0.177778	14.471598	18.873114	8	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136244753	136244753	17474	2	G	A	A	40	40	UBXN4	A	1	1
UBXN4	23190	broad.mit.edu	36	2	136256829	136256829	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136256829G>A	uc002tur.1	+	c.1429G>A	c.(1429-1431)GAC>AAC	p.D477N	UBXN4_uc002tus.1_Missense_Mutation_p.D243N|UBXN4_uc002tut.1_Missense_Mutation_p.D113N	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	477	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding				0														0.344051	279.622064	286.306354	107	204	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136256829	136256829	17474	2	G	A	A	37	37	UBXN4	A	1	1
LCT	3938	broad.mit.edu	36	2	136262425	136262425	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136262425C>T	uc002tuu.1	-	c.5723G>A	c.(5722-5724)CGC>CAC	p.R1908H		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1908	Cytoplasmic (Potential).				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11														0.271264	268.56807	289.093411	118	317	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.169)	Missense_Mutation	SNP	136262425	136262425	9017	2	C	T	T	27	27	LCT	T	1	1
LCT	3938	broad.mit.edu	36	2	136278941	136278941	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136278941C>T	uc002tuu.1	-	c.4330G>A	c.(4330-4332)GTG>ATG	p.V1444M		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1444	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11														0.337349	71.373838	73.316171	28	55	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.169)	Missense_Mutation	SNP	136278941	136278941	9017	2	C	T	T	19	19	LCT	T	1	1
LCT	3938	broad.mit.edu	36	2	136282900	136282900	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136282900C>A	uc002tuu.1	-	c.3487G>T	c.(3487-3489)GAC>TAC	p.D1163Y		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1163	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11														0.218579	79.791411	93.159114	40	143	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.169)	Missense_Mutation	SNP	136282900	136282900	9017	2	C	A	A	32	32	LCT	A	3	3
LCT	3938	broad.mit.edu	36	2	136286801	136286801	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136286801C>T	uc002tuu.1	-	c.1903G>A	c.(1903-1905)GTC>ATC	p.V635I		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	635	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11														0.231293	69.068476	78.803486	34	113	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.169)	Missense_Mutation	SNP	136286801	136286801	9017	2	C	T	T	19	19	LCT	T	1	1
LCT	3938	broad.mit.edu	36	2	136286935	136286935	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136286935C>T	uc002tuu.1	-	c.1769G>A	c.(1768-1770)CGC>CAC	p.R590H		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	590	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11														0.202703	28.508553	34.566692	15	59	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.169)	Missense_Mutation	SNP	136286935	136286935	9017	2	C	T	T	27	27	LCT	T	1	1
THSD7B	80731	broad.mit.edu	36	2	138131148	138131148	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:138131148C>T	uc002tva.1	+	c.4236C>T	c.(4234-4236)AAC>AAT	p.N1412N		NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7														0.224	53.477926	62.297025	28	97	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.19)	Silent	SNP	138131148	138131148	16408	2	C	T	T	17	17	THSD7B	T	2	2
SPOPL	339745	broad.mit.edu	36	2	139026644	139026644	+	Nonsense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:139026644A>T	uc002tvh.1	+	c.403A>T	c.(403-405)AAA>TAA	p.K135*		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	135	MATH.					nucleus				breast(1)	1														0.588235	343.40671	344.790611	120	84	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0296)	Nonsense_Mutation	SNP	139026644	139026644	15598	2	A	T	T	1	1	SPOPL	T	5	4
NXPH2	11249	broad.mit.edu	36	2	139145301	139145301	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:139145301G>A	uc002tvi.1	-	c.456C>T	c.(454-456)GGC>GGT	p.G152G		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2	152	III.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4														0.234043	24.328262	27.352156	11	36	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.101)	Silent	SNP	139145301	139145301	11196	2	G	A	A	42	42	NXPH2	A	2	2
LRP1B	53353	broad.mit.edu	36	2	140708874	140708874	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:140708874G>A	uc002tvj.1	-	c.13610C>T	c.(13609-13611)GCG>GTG	p.A4537V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4537	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		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)				Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.327273	90.757143	93.670499	36	74	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	140708874	140708874	9328	2	G	A	A	38	38	LRP1B	A	1	1
LRP1B	53353	broad.mit.edu	36	2	140796099	140796099	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:140796099G>A	uc002tvj.1	-	c.12543C>T	c.(12541-12543)TGC>TGT	p.C4181C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4181	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		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)				Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.307692	69.262437	72.264729	28	63	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	140796099	140796099	9328	2	G	A	A	38	38	LRP1B	A	1	1
LRP1B	53353	broad.mit.edu	36	2	141324241	141324241	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:141324241G>A	uc002tvj.1	-	c.4839C>T	c.(4837-4839)TTC>TTT	p.F1613F	LRP1B_uc010fnl.1_Silent_p.F795F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1613	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		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)				Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.289617	130.811567	138.065472	53	130	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	141324241	141324241	9328	2	G	A	A	37	37	LRP1B	A	1	1
KYNU	8942	broad.mit.edu	36	2	143359540	143359540	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:143359540G>A	uc002tvl.1	+	c.134G>A	c.(133-135)TGC>TAC	p.C45Y	KYNU_uc002tvk.1_Missense_Mutation_p.C45Y|KYNU_uc010fnm.1_Missense_Mutation_p.C45Y	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	45					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(1)	1					L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)									0.260274	42.986926	46.789026	19	54	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.072)	Missense_Mutation	SNP	143359540	143359540	8910	2	G	A	A	46	46	KYNU	A	2	2
KYNU	8942	broad.mit.edu	36	2	143392691	143392691	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:143392691C>A	uc002tvl.1	+	c.213C>A	c.(211-213)TTC>TTA	p.F71L	KYNU_uc002tvk.1_Missense_Mutation_p.F71L|KYNU_uc010fnm.1_Missense_Mutation_p.F71L	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	71					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(1)	1					L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)									0.306667	53.988667	56.493379	23	52	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.072)	Missense_Mutation	SNP	143392691	143392691	8910	2	C	A	A	32	32	KYNU	A	3	3
ZEB2	9839	broad.mit.edu	36	2	144873141	144873141	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:144873141G>A	uc002tvu.1	-	c.2083C>T	c.(2083-2085)CGA>TGA	p.R695*	ZEB2_uc002tvv.1_Nonsense_Mutation_p.R689*|ZEB2_uc010fnp.1_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.R724*	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	695	Homeobox; atypical.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8						Melanoma(33;1235 1264 5755 16332)								0.563863	514.014327	515.143716	181	140	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.112)	Nonsense_Mutation	SNP	144873141	144873141	18212	2	G	A	A	40	40	ZEB2	A	5	1
ACVR2A	92	broad.mit.edu	36	2	148397081	148397081	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:148397081T>G	uc002twg.1	+	c.1147T>G	c.(1147-1149)TTG>GTG	p.L383V	ACVR2A_uc002twh.1_Missense_Mutation_p.L383V	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	383	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation|protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|kidney(1)	11										196				0.34	370.215217	378.136859	119	231	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0969)	Missense_Mutation	SNP	148397081	148397081	224	2	T	G	G	64	64	ACVR2A	G	4	4
KIF5C	3800	broad.mit.edu	36	2	149396197	149396197	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:149396197G>A	uc002twr.1	+	c.148G>A	c.(148-150)GAC>AAC	p.D50N		NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	50	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1														0.309524	34.159074	35.516988	13	29	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.108)	Missense_Mutation	SNP	149396197	149396197	8618	2	G	A	A	37	37	KIF5C	A	1	1
RND3	390	broad.mit.edu	36	2	151034957	151034957	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:151034957G>A	uc002txe.1	-	c.525C>T	c.(523-525)ATC>ATT	p.I175I	RND3_uc002txf.1_Silent_p.I174I|RND3_uc002txg.1_Silent_p.I175I	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E	175					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity				0														0.303448	109.851793	114.847875	44	101	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.106)	Silent	SNP	151034957	151034957	13898	2	G	A	A	37	37	RND3	A	1	1
RND3	390	broad.mit.edu	36	2	151052089	151052089	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:151052089C>T	uc002txe.1	-	c.89G>A	c.(88-90)GGA>GAA	p.G30E	RND3_uc002txf.1_Missense_Mutation_p.G30E|RND3_uc002txg.1_Missense_Mutation_p.G30E	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E	30	GTP (By similarity).				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity				0														0.252174	67.921103	74.336355	29	86	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.106)	Missense_Mutation	SNP	151052089	151052089	13898	2	C	T	T	30	30	RND3	T	2	2
RBM43	375287	broad.mit.edu	36	2	151816207	151816207	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:151816207C>A	uc002txh.1	-	c.533G>T	c.(532-534)AGA>ATA	p.R178I		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	178							nucleotide binding|RNA binding				0														0.264706	181.408788	196.74399	81	225	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.131)	Missense_Mutation	SNP	151816207	151816207	13599	2	C	A	A	32	32	RBM43	A	3	3
RIF1	55183	broad.mit.edu	36	2	152022651	152022651	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152022651G>A	uc002txm.1	+	c.2783G>A	c.(2782-2784)CGA>CAA	p.R928Q	RIF1_uc002txl.1_Missense_Mutation_p.R928Q|RIF1_uc002txn.1_Missense_Mutation_p.R928Q|RIF1_uc002txo.1_Missense_Mutation_p.R928Q	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	928					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12										950				0.287671	103.682074	109.590853	42	104	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0429)	Missense_Mutation	SNP	152022651	152022651	13834	2	G	A	A	37	37	RIF1	A	1	1
RIF1	55183	broad.mit.edu	36	2	152030782	152030782	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152030782C>T	uc002txm.1	+	c.6502C>T	c.(6502-6504)CGC>TGC	p.R2168C	RIF1_uc002txp.2_Non-coding_Transcript|RIF1_uc002txl.1_Missense_Mutation_p.R2168C|RIF1_uc002txn.1_Missense_Mutation_p.R2168C|RIF1_uc002txo.1_Missense_Mutation_p.R2168C	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2168	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12										950				0.672414	232.595436	235.672838	78	38	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0429)	Missense_Mutation	SNP	152030782	152030782	13834	2	C	T	T	19	19	RIF1	T	1	1
NEB	4703	broad.mit.edu	36	2	152070929	152070929	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152070929G>T	uc010fnx.1	-	c.18543C>A	c.(18541-18543)AGC>AGA	p.S6181R	RIF1_uc002txp.2_Intron|NEB_uc002txq.1_5'Flank|NEB_uc002txr.1_Missense_Mutation_p.S2604R|NEB_uc002txt.2_Missense_Mutation_p.S686R	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	6181	Nebulin 169.				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(1)|skin(1)|pancreas(1)	19														0.270769	204.623173	220.052076	88	237	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Missense_Mutation	SNP	152070929	152070929	10701	2	G	T	T	34	34	NEB	T	3	3
NEB	4703	broad.mit.edu	36	2	152071670	152071670	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152071670G>A	uc010fnx.1	-	c.18452C>T	c.(18451-18453)TCG>TTG	p.S6151L	RIF1_uc002txp.2_Intron|NEB_uc002txr.1_Missense_Mutation_p.S2574L|NEB_uc002txt.2_Missense_Mutation_p.S656L	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	6151	Nebulin 168.				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(1)|skin(1)|pancreas(1)	19														0.316176	107.880739	111.965769	43	93	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Missense_Mutation	SNP	152071670	152071670	10701	2	G	A	A	37	37	NEB	A	1	1
NEB	4703	broad.mit.edu	36	2	152118247	152118247	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152118247C>A	uc010fnx.1	-	c.14539G>T	c.(14539-14541)GAC>TAC	p.D4847Y	NEB_uc002txr.1_Missense_Mutation_p.D1270Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	4847	Nebulin 132.				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(1)|skin(1)|pancreas(1)	19														0.504425	165.669938	165.671846	57	56	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Missense_Mutation	SNP	152118247	152118247	10701	2	C	A	A	29	29	NEB	A	3	3
NEB	4703	broad.mit.edu	36	2	152132010	152132010	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152132010C>T	uc010fnx.1	-	c.12971G>A	c.(12970-12972)CGT>CAT	p.R4324H	NEB_uc002txr.1_Missense_Mutation_p.R747H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	4324	Nebulin 118.				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(1)|skin(1)|pancreas(1)	19														0.303867	136.355115	142.569828	55	126	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Missense_Mutation	SNP	152132010	152132010	10701	2	C	T	T	19	19	NEB	T	1	1
NEB	4703	broad.mit.edu	36	2	152132111	152132111	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152132111C>A	uc010fnx.1	-	c.12870G>T	c.(12868-12870)GAG>GAT	p.E4290D	NEB_uc002txr.1_Missense_Mutation_p.E713D	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	4290	Nebulin 117.				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(1)|skin(1)|pancreas(1)	19														0.304878	59.235383	62.025875	25	57	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Missense_Mutation	SNP	152132111	152132111	10701	2	C	A	A	24	24	NEB	A	3	3
NEB	4703	broad.mit.edu	36	2	152204765	152204765	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152204765C>T	uc010fnx.1	-	c.8741G>A	c.(8740-8742)GGC>GAC	p.G2914D	NEB_uc002txu.2_Missense_Mutation_p.G18D	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	2914	Nebulin 79.				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(1)|skin(1)|pancreas(1)	19														0.288557	124.79819	132.905967	58	143	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Missense_Mutation	SNP	152204765	152204765	10701	2	C	T	T	26	26	NEB	T	2	2
CACNB4	785	broad.mit.edu	36	2	152445626	152445626	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152445626G>A	uc002tya.1	-	c.324C>T	c.(322-324)GAC>GAT	p.D108D	CACNB4_uc002txy.1_Silent_p.D74D|CACNB4_uc002txz.1_Silent_p.D90D|CACNB4_uc010fnz.1_Silent_p.D108D|CACNB4_uc002tyb.1_Silent_p.D74D	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	108					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2					Verapamil(DB00661)									0.19403	24.937723	30.790349	13	54	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.156)	Silent	SNP	152445626	152445626	2671	2	G	A	A	40	40	CACNB4	A	1	1
FMNL2	114793	broad.mit.edu	36	2	153201254	153201254	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:153201254G>T	uc002tye.1	+	c.2748G>T	c.(2746-2748)GAG>GAT	p.E916D	FMNL2_uc010fob.1_Missense_Mutation_p.E372D|FMNL2_uc002tyf.1_Missense_Mutation_p.E365D	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	916	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3														0.282051	29.807737	31.472675	11	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153201254	153201254	6194	2	G	T	T	36	36	FMNL2	T	3	3
PRPF40A	55660	broad.mit.edu	36	2	153228710	153228710	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:153228710G>T	uc002tyh.2	-	c.1897C>A	c.(1897-1899)CTT>ATT	p.L633I	PRPF40A_uc002tyg.2_Missense_Mutation_p.L89I	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	660	FF 4.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0														0.555556	13.87431	13.898301	5	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153228710	153228710	13014	2	G	T	T	33	33	PRPF40A	T	3	3
PRPF40A	55660	broad.mit.edu	36	2	153280771	153280771	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:153280771C>T	uc002tyh.2	-	c.200G>A	c.(199-201)GGG>GAG	p.G67E	PRPF40A_uc002tyi.2_Missense_Mutation_p.G94E|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Missense_Mutation_p.G94E|ARL6IP6_uc002tym.1_5'Flank|ARL6IP6_uc002tyn.1_5'Flank	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	94					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0														0.238095	148.883741	164.666855	60	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153280771	153280771	13014	2	C	T	T	22	22	PRPF40A	T	2	2
NBAS	51594	broad.mit.edu	36	2	15437260	15437260	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:15437260C>A	uc002rcc.1	-	c.3507G>T	c.(3505-3507)AAG>AAT	p.K1169N	NBAS_uc010exl.1_Missense_Mutation_p.K241N|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1169										ovary(2)|liver(1)	3														0.555556	356.016697	356.639272	130	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15437260	15437260	10582	2	C	A	A	32	32	NBAS	A	3	3
NBAS	51594	broad.mit.edu	36	2	15524920	15524920	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:15524920C>T	uc002rcc.1	-	c.2081G>A	c.(2080-2082)CGA>CAA	p.R694Q	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	694										ovary(2)|liver(1)	3														0.232558	65.677361	74.133948	30	99	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15524920	15524920	10582	2	C	T	T	31	31	NBAS	T	1	1
KCNJ3	3760	broad.mit.edu	36	2	155264030	155264030	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:155264030C>T	uc002tyv.1	+	c.497C>T	c.(496-498)TCC>TTC	p.S166F		NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	166	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.612403	236.716934	238.138292	79	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155264030	155264030	8357	2	C	T	T	30	30	KCNJ3	T	2	2
ERMN	57471	broad.mit.edu	36	2	157890219	157890219	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:157890219C>A	uc002tzi.1	-	c.221G>T	c.(220-222)AGA>ATA	p.R74I	ERMN_uc002tzh.1_Missense_Mutation_p.R61I	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein isoform a	61						cytoplasm|cytoskeleton				ovary(1)	1														0.235849	103.725817	117.268378	50	162	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157890219	157890219	5428	2	C	A	A	32	32	ERMN	A	3	3
ERMN	57471	broad.mit.edu	36	2	157890371	157890371	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:157890371C>A	uc002tzi.1	-	c.69G>T	c.(67-69)CAG>CAT	p.Q23H	ERMN_uc002tzh.1_Missense_Mutation_p.Q10H	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein isoform a	10						cytoplasm|cytoskeleton				ovary(1)	1														0.285714	151.390083	160.632357	64	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157890371	157890371	5428	2	C	A	A	24	24	ERMN	A	3	3
ACVR1C	130399	broad.mit.edu	36	2	158115081	158115081	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:158115081C>T	uc002tzk.2	-	c.614G>A	c.(613-615)AGA>AAA	p.R205K	ACVR1C_uc010foe.1_Missense_Mutation_p.R155K|ACVR1C_uc002tzl.2_Missense_Mutation_p.R125K|ACVR1C_uc010fof.1_Intron	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	activin receptor-like kinase 7 isoform 1	205	ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|protein phosphorylation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(2)|lung(2)	4										127				0.533679	318.123556	318.312744	103	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	158115081	158115081	223	2	C	T	T	32	32	ACVR1C	T	2	2
ACVR1	90	broad.mit.edu	36	2	158325695	158325695	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:158325695C>T	uc002tzm.2	-	c.1207G>A	c.(1207-1209)GAT>AAT	p.D403N	ACVR1_uc002tzn.2_Missense_Mutation_p.D403N|ACVR1_uc010fog.1_Missense_Mutation_p.D403N	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A type I receptor precursor	403	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein phosphorylation|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3					Adenosine triphosphate(DB00171)					185				0.494737	136.41833	136.420661	47	48	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.104)	Missense_Mutation	SNP	158325695	158325695	221	2	C	T	T	31	31	ACVR1	T	1	1
ACVR1	90	broad.mit.edu	36	2	158338848	158338848	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:158338848A>G	uc002tzm.2	-	c.641T>C	c.(640-642)GTC>GCC	p.V214A	ACVR1_uc002tzn.2_Missense_Mutation_p.V214A|ACVR1_uc010fog.1_Missense_Mutation_p.V214A	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A type I receptor precursor	214	Cytoplasmic (Potential).|Protein kinase.|ATP (By similarity).				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein phosphorylation|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3					Adenosine triphosphate(DB00171)					185				0.519608	185.080912	185.11516	53	49	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.104)	Missense_Mutation	SNP	158338848	158338848	221	2	A	G	G	10	10	ACVR1	G	4	4
PKP4	8502	broad.mit.edu	36	2	159245347	159245347	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:159245347C>T	uc002tzv.1	+	c.3491C>T	c.(3490-3492)TCG>TTG	p.S1164L	PKP4_uc002tzw.1_Missense_Mutation_p.S1121L|PKP4_uc002tzx.1_Missense_Mutation_p.S821L|PKP4_uc002uaa.1_Missense_Mutation_p.S973L|PKP4_uc002uac.1_Missense_Mutation_p.S345L|PKP4_uc002uad.1_Non-coding_Transcript	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	1164					cell adhesion	desmosome	protein binding			ovary(5)	5														0.30033	228.717758	239.504324	91	212	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159245347	159245347	12412	2	C	T	T	31	31	PKP4	T	1	1
TANC1	85461	broad.mit.edu	36	2	159630726	159630726	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:159630726G>T	uc002uag.1	+	c.58G>T	c.(58-60)GCA>TCA	p.A20S	TANC1_uc010fol.1_Missense_Mutation_p.A20S|TANC1_uc010fom.1_Missense_Mutation_p.A20S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	20						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3														0.187215	81.333819	101.411678	41	178	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159630726	159630726	16065	2	G	T	T	34	34	TANC1	T	3	3
TANC1	85461	broad.mit.edu	36	2	159735307	159735307	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:159735307G>T	uc002uag.1	+	c.1096G>T	c.(1096-1098)GAC>TAC	p.D366Y	TANC1_uc010fol.1_Missense_Mutation_p.D260Y|TANC1_uc010fom.1_Missense_Mutation_p.D172Y	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	366						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3														0.598639	255.405265	256.651321	88	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159735307	159735307	16065	2	G	T	T	33	33	TANC1	T	3	3
WDSUB1	151525	broad.mit.edu	36	2	159822523	159822523	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:159822523A>C	uc002uaj.2	-	c.944T>G	c.(943-945)CTT>CGT	p.L315R	WDSUB1_uc002uak.2_Missense_Mutation_p.L315R|WDSUB1_uc002ual.2_Missense_Mutation_p.L315R|WDSUB1_uc002uam.2_Missense_Mutation_p.L315R|WDSUB1_uc010foo.1_Intron	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain	315	WD 7.					ubiquitin ligase complex	ubiquitin-protein ligase activity				0														0.223301	58.771617	66.021107	23	80	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159822523	159822523	17915	2	A	C	C	3	3	WDSUB1	C	4	4
BAZ2B	29994	broad.mit.edu	36	2	159914739	159914739	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:159914739T>C	uc002uao.1	-	c.4589A>G	c.(4588-4590)AAT>AGT	p.N1530S	BAZ2B_uc002uap.1_Missense_Mutation_p.N1494S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.329577	378.889096	388.010822	117	238	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159914739	159914739	1353	2	T	C	C	52	52	BAZ2B	C	4	4
BAZ2B	29994	broad.mit.edu	36	2	159992789	159992789	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:159992789C>A	uc002uao.1	-	c.2375G>T	c.(2374-2376)AGA>ATA	p.R792I	BAZ2B_uc002uap.1_Intron|BAZ2B_uc002uaq.1_Missense_Mutation_p.R622I|BAZ2B_uc002uar.1_Missense_Mutation_p.R365I	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	792	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.267442	104.757494	113.169478	46	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159992789	159992789	1353	2	C	A	A	32	32	BAZ2B	A	3	3
BAZ2B	29994	broad.mit.edu	36	2	160003150	160003150	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160003150G>A	uc002uao.1	-	c.1203C>T	c.(1201-1203)CTC>CTT	p.L401L	BAZ2B_uc002uap.1_Silent_p.L399L|BAZ2B_uc002uas.1_Silent_p.L338L|BAZ2B_uc002uat.2_3'UTR|BAZ2B_uc002uau.1_Silent_p.L399L|BAZ2B_uc010fop.1_Silent_p.L399L|BAZ2B_uc002uaq.1_Silent_p.L329L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.594118	290.878449	292.189756	101	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	160003150	160003150	1353	2	G	A	A	45	45	BAZ2B	A	2	2
BAZ2B	29994	broad.mit.edu	36	2	160043389	160043389	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160043389A>C	uc002uao.1	-	c.88T>G	c.(88-90)TCA>GCA	p.S30A	BAZ2B_uc002uap.1_Missense_Mutation_p.S30A|BAZ2B_uc002uas.1_Missense_Mutation_p.S30A|BAZ2B_uc002uat.2_Missense_Mutation_p.S30A|BAZ2B_uc002uau.1_Missense_Mutation_p.S30A|BAZ2B_uc010fop.1_Missense_Mutation_p.S30A	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.29918	206.38405	215.176161	73	171	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	160043389	160043389	1353	2	A	C	C	9	9	BAZ2B	C	4	4
MARCH7	64844	broad.mit.edu	36	2	160313309	160313309	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160313309C>T	uc002uax.1	+	c.1262C>T	c.(1261-1263)TCT>TTT	p.S421F	MARCH7_uc010foq.1_Missense_Mutation_p.S421F|MARCH7_uc010for.1_Missense_Mutation_p.S383F|MARCH7_uc002uay.1_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	421	Ser-rich.						ligase activity|zinc ion binding				0														0.340659	171.885455	175.973886	62	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	160313309	160313309	9689	2	C	T	T	32	32	MARCH7	T	2	2
LY75	4065	broad.mit.edu	36	2	160417035	160417035	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160417035A>C	uc002ubb.2	-	c.2806T>G	c.(2806-2808)TCT>GCT	p.S936A	LY75_uc010fos.1_Missense_Mutation_p.S936A|LY75_uc002ubc.2_Missense_Mutation_p.S936A	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75	936	Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0														0.534161	295.347344	295.510248	86	75	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(177;0.132)	Missense_Mutation	SNP	160417035	160417035	9476	2	A	C	C	9	9	LY75	C	4	4
LY75	4065	broad.mit.edu	36	2	160440320	160440320	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160440320C>T	uc002ubb.2	-	c.1855G>A	c.(1855-1857)GCA>ACA	p.A619T	LY75_uc010fos.1_Missense_Mutation_p.A619T|LY75_uc002ubc.2_Missense_Mutation_p.A619T|LY75_uc010fot.1_Missense_Mutation_p.A619T	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75	619	Extracellular (Potential).|C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0														0.331081	258.372612	265.845424	98	198	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(177;0.132)	Missense_Mutation	SNP	160440320	160440320	9476	2	C	T	T	28	28	LY75	T	2	2
LY75	4065	broad.mit.edu	36	2	160443119	160443119	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160443119C>T	uc002ubb.2	-	c.1736G>A	c.(1735-1737)CGG>CAG	p.R579Q	LY75_uc010fos.1_Missense_Mutation_p.R579Q|LY75_uc002ubc.2_Missense_Mutation_p.R579Q|LY75_uc010fot.1_Missense_Mutation_p.R579Q	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75	579	Extracellular (Potential).|C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0														0.29064	153.663305	161.62406	59	144	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(177;0.132)	Missense_Mutation	SNP	160443119	160443119	9476	2	C	T	T	23	23	LY75	T	1	1
PLA2R1	22925	broad.mit.edu	36	2	160532392	160532392	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160532392G>A	uc002ube.1	-	c.2808C>T	c.(2806-2808)ATC>ATT	p.I936I	PLA2R1_uc002ubf.1_Silent_p.I936I	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	936	Extracellular (Potential).|C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)	1														0.243655	114.391406	126.198377	48	149	GG		KEEP	---	---	---	---	capture			Silent	SNP	160532392	160532392	12436	2	G	A	A	33	33	PLA2R1	A	2	2
ITGB6	3694	broad.mit.edu	36	2	160672504	160672504	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160672504C>T	uc002ubh.2	-	c.2200G>A	c.(2200-2202)GTG>ATG	p.V734M	ITGB6_uc010fou.1_Missense_Mutation_p.V734M|ITGB6_uc010fov.1_Missense_Mutation_p.V734M	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6	734	Cytoplasmic (Potential).|Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3										575				0.29064	150.037571	158.01341	59	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	160672504	160672504	8203	2	C	T	T	18	18	ITGB6	T	2	2
ITGB6	3694	broad.mit.edu	36	2	160672596	160672596	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160672596G>A	uc002ubh.2	-	c.2108C>T	c.(2107-2109)CCG>CTG	p.P703L	ITGB6_uc010fou.1_Missense_Mutation_p.P703L|ITGB6_uc010fov.1_Missense_Mutation_p.P703L	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6	703	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3										575				0.3	79.091322	82.306747	27	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	160672596	160672596	8203	2	G	A	A	39	39	ITGB6	A	1	1
ITGB6	3694	broad.mit.edu	36	2	160702905	160702905	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160702905T>G	uc002ubh.2	-	c.1159A>C	c.(1159-1161)AAC>CAC	p.N387H	ITGB6_uc010fou.1_Missense_Mutation_p.N387H|ITGB6_uc010fov.1_Missense_Mutation_p.N387H	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6	387	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3										575				0.583012	538.180134	539.74411	151	108	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	160702905	160702905	8203	2	T	G	G	63	63	ITGB6	G	4	4
PSMD14	10213	broad.mit.edu	36	2	161973643	161973643	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:161973643A>G	uc002ubu.1	+	c.821A>G	c.(820-822)AAT>AGT	p.N274S		NM_005805	NP_005796	O00487	PSDE_HUMAN	26S proteasome-associated pad1 homolog	274					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|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity				0														0.291667	18.293396	19.242324	7	17	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	161973643	161973643	13150	2	A	G	G	4	4	PSMD14	G	4	4
TBR1	10716	broad.mit.edu	36	2	161988404	161988404	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:161988404A>G	uc002ubw.1	+	c.1469A>G	c.(1468-1470)AAC>AGC	p.N490S	TBR1_uc010foy.1_Missense_Mutation_p.N203S	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	490						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.333333	9.822559	10.043685	3	6	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	161988404	161988404	16173	2	A	G	G	2	2	TBR1	G	4	4
SLC4A10	57282	broad.mit.edu	36	2	162404621	162404621	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:162404621C>T	uc002ubx.2	+	c.354C>T	c.(352-354)TTC>TTT	p.F118F	SLC4A10_uc002uby.2_Silent_p.F118F|SLC4A10_uc010foz.1_Silent_p.F129F|SLC4A10_uc010fpa.1_Silent_p.F130F	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	118	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.317568	119.162068	123.546873	47	101	CC		KEEP	---	---	---	---	capture			Silent	SNP	162404621	162404621	15148	2	C	T	T	29	29	SLC4A10	T	2	2
SLC4A10	57282	broad.mit.edu	36	2	162470490	162470490	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:162470490C>T	uc002ubx.2	+	c.1844C>T	c.(1843-1845)TCC>TTC	p.S615F	SLC4A10_uc002uby.2_Missense_Mutation_p.S585F	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	615	Helical; (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.272727	118.822953	127.017759	48	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	162470490	162470490	15148	2	C	T	T	30	30	SLC4A10	T	2	2
IFIH1	64135	broad.mit.edu	36	2	162841552	162841552	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:162841552T>C	uc002uce.1	-	c.2195A>G	c.(2194-2196)TAT>TGT	p.Y732C		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	732	Helicase C-terminal.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|regulation of apoptosis|response to virus	cytosol|nucleus	ATP binding|DNA binding|helicase activity|protein binding|ribonucleoprotein binding|RNA binding|zinc ion binding			ovary(1)	1														0.27027	286.56979	304.163029	100	270	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	162841552	162841552	7821	2	T	C	C	49	49	IFIH1	C	4	4
KCNH7	90134	broad.mit.edu	36	2	163069258	163069258	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:163069258T>C	uc002uch.1	-	c.1069A>G	c.(1069-1071)ACC>GCC	p.T357A	KCNH7_uc002uci.1_Missense_Mutation_p.T350A	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	357	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.565982	696.432217	697.728499	193	148	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	163069258	163069258	8342	2	T	C	C	60	60	KCNH7	C	4	4
PXDN	7837	broad.mit.edu	36	2	1631216	1631216	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:1631216C>T	uc002qxa.1	-	c.3343G>A	c.(3343-3345)GAT>AAT	p.D1115N		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin homolog	1115					extracellular matrix organization|hydrogen peroxide catabolic process|immune response|oxidation-reduction process	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)								2093				0.166667	11.402626	15.82544	7	35	CC		KEEP	---	---	---	---	capture		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	Missense_Mutation	SNP	1631216	1631216	13305	2	C	T	T	31	31	PXDN	T	1	1
PXDN	7837	broad.mit.edu	36	2	1631862	1631862	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:1631862C>T	uc002qxa.1	-	c.2697G>A	c.(2695-2697)CCG>CCA	p.P899P		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin homolog	899					extracellular matrix organization|hydrogen peroxide catabolic process|immune response|oxidation-reduction process	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)								2093				0.23913	24.003442	26.861457	11	35	CC		KEEP	---	---	---	---	capture		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	Silent	SNP	1631862	1631862	13305	2	C	T	T	27	27	PXDN	T	1	1
FIGN	55137	broad.mit.edu	36	2	164174716	164174716	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:164174716G>A	uc002uck.1	-	c.1872C>T	c.(1870-1872)ATC>ATT	p.I624I		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	624						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)	3														0.55102	401.131456	401.685243	135	110	GG		KEEP	---	---	---	---	capture			Silent	SNP	164174716	164174716	6129	2	G	A	A	37	37	FIGN	A	1	1
FIGN	55137	broad.mit.edu	36	2	164174879	164174879	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:164174879G>T	uc002uck.1	-	c.1709C>A	c.(1708-1710)TCT>TAT	p.S570Y		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	570						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)	3														0.214953	42.249197	50.297381	23	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	164174879	164174879	6129	2	G	T	T	33	33	FIGN	T	3	3
FIGN	55137	broad.mit.edu	36	2	164176312	164176312	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:164176312C>T	uc002uck.1	-	c.276G>A	c.(274-276)TCG>TCA	p.S92S		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	92						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)	3														0.594667	702.382072	705.320391	223	152	CC		KEEP	---	---	---	---	capture			Silent	SNP	164176312	164176312	6129	2	C	T	T	23	23	FIGN	T	1	1
COBLL1	22837	broad.mit.edu	36	2	165259592	165259592	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165259592T>G	uc002ucp.1	-	c.2670A>C	c.(2668-2670)AAA>AAC	p.K890N	COBLL1_uc002uco.1_Missense_Mutation_p.K621N|COBLL1_uc002ucq.1_Missense_Mutation_p.K852N|COBLL1_uc002ucr.1_Missense_Mutation_p.K890N|COBLL1_uc002ucn.1_Missense_Mutation_p.K318N	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	928										ovary(2)|pancreas(1)	3														0.29927	125.729277	130.657553	41	96	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165259592	165259592	3792	2	T	G	G	52	52	COBLL1	G	4	4
COBLL1	22837	broad.mit.edu	36	2	165308531	165308531	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165308531C>A	uc002ucp.1	-	c.142G>T	c.(142-144)GAA>TAA	p.E48*	COBLL1_uc002ucq.1_Nonsense_Mutation_p.E48*|COBLL1_uc002ucr.1_Nonsense_Mutation_p.E86*|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uct.2_Nonsense_Mutation_p.E48*	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	86										ovary(2)|pancreas(1)	3														0.279661	77.416803	82.573903	33	85	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	165308531	165308531	3792	2	C	A	A	30	30	COBLL1	A	5	3
SLC38A11	151258	broad.mit.edu	36	2	165463336	165463336	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165463336C>A	uc002ucv.1	-	c.1078G>T	c.(1078-1080)GCT>TCT	p.A360S	SLC38A11_uc002ucu.1_Missense_Mutation_p.A338S|SLC38A11_uc002ucw.1_Missense_Mutation_p.A360S	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	360	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1														0.197917	38.372365	46.529125	19	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165463336	165463336	15100	2	C	A	A	26	26	SLC38A11	A	3	3
SCN3A	6328	broad.mit.edu	36	2	165678704	165678704	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165678704G>T	uc002ucx.1	-	c.3537C>A	c.(3535-3537)TTC>TTA	p.F1179L	SCN3A_uc002ucy.1_Missense_Mutation_p.F1130L|SCN3A_uc002ucz.1_Missense_Mutation_p.F1130L|SCN3A_uc002uda.1_Missense_Mutation_p.F999L|SCN3A_uc002udb.1_Missense_Mutation_p.F999L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1179						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.226244	99.510787	114.742557	50	171	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165678704	165678704	14400	2	G	T	T	33	33	SCN3A	T	3	3
SCN3A	6328	broad.mit.edu	36	2	165711614	165711614	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165711614C>A	uc002ucx.1	-	c.1552G>T	c.(1552-1554)GGA>TGA	p.G518*	SCN3A_uc002ucy.1_Nonsense_Mutation_p.G518*|SCN3A_uc002ucz.1_Nonsense_Mutation_p.G518*|SCN3A_uc002uda.1_Nonsense_Mutation_p.G387*|SCN3A_uc002udb.1_Nonsense_Mutation_p.G387*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	518						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.245902	232.536908	257.666089	105	322	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	165711614	165711614	14400	2	C	A	A	24	24	SCN3A	A	5	3
SCN2A	6326	broad.mit.edu	36	2	165878774	165878774	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165878774G>T	uc002udc.1	+	c.1293G>T	c.(1291-1293)CAG>CAT	p.Q431H	SCN2A_uc002udd.1_Missense_Mutation_p.Q431H|SCN2A_uc002ude.1_Missense_Mutation_p.Q431H	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	431	I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.29878	111.591533	117.538994	49	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165878774	165878774	14398	2	G	T	T	33	33	SCN2A	T	3	3
FAM49A	81553	broad.mit.edu	36	2	16599868	16599868	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:16599868A>C	uc010exm.1	-	c.858T>G	c.(856-858)GTT>GTG	p.V286V	FAM49A_uc002rck.1_Silent_p.V286V	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	286						intracellular					0	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)													0.3	46.308368	48.0935	15	35	AA		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;0.00969)		Silent	SNP	16599868	16599868	5797	2	A	C	C	1	1	FAM49A	C	4	4
SCN1A	6323	broad.mit.edu	36	2	166602775	166602775	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166602775G>A	uc010fpj.1	-	c.2670C>T	c.(2668-2670)GTC>GTT	p.V890V	SCN1A_uc002udo.2_Silent_p.V770V|SCN1A_uc010fpk.1_Silent_p.V742V	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	901	II.|Helical; Name=S5 of repeat II; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|large_intestine(1)	7					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)									0.32973	163.602879	168.361775	61	124	GG		KEEP	---	---	---	---	capture			Silent	SNP	166602775	166602775	14396	2	G	A	A	33	33	SCN1A	A	2	2
SCN9A	6335	broad.mit.edu	36	2	166764500	166764500	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166764500G>A	uc002udq.2	-	c.4862C>T	c.(4861-4863)ACG>ATG	p.T1621M		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1632	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1621M(1)		ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.315603	218.292648	226.812433	89	193	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166764500	166764500	14407	2	G	A	A	40	40	SCN9A	A	1	1
SCN9A	6335	broad.mit.edu	36	2	166768816	166768816	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166768816G>T	uc002udq.2	-	c.4636C>A	c.(4636-4638)CTT>ATT	p.L1546I		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1557	IV.|Helical; Name=S2 of repeat IV; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.285714	47.265553	50.153781	20	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166768816	166768816	14407	2	G	T	T	35	35	SCN9A	T	3	3
SCN9A	6335	broad.mit.edu	36	2	166870632	166870632	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166870632A>G	uc002udq.2	-	c.512T>C	c.(511-513)ATC>ACC	p.I171T	SCN9A_uc002udr.1_Missense_Mutation_p.I42T|SCN9A_uc002uds.1_Missense_Mutation_p.I42T|SCN9A_uc002udt.1_Missense_Mutation_p.I42T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	171	I.|Helical; Name=S2 of repeat I; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.243902	55.665277	60.561651	20	62	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166870632	166870632	14407	2	A	G	G	12	12	SCN9A	G	4	4
SCN7A	6332	broad.mit.edu	36	2	166970891	166970891	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166970891A>T	uc002udu.1	-	c.4494T>A	c.(4492-4494)TTT>TTA	p.F1498L		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1498					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.625	86.553966	87.211117	30	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166970891	166970891	14405	2	A	T	T	1	1	SCN7A	T	4	4
SCN7A	6332	broad.mit.edu	36	2	166971035	166971035	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166971035G>A	uc002udu.1	-	c.4350C>T	c.(4348-4350)GAC>GAT	p.D1450D		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1450					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.294118	162.413813	170.156137	60	144	GG		KEEP	---	---	---	---	capture			Silent	SNP	166971035	166971035	14405	2	G	A	A	36	36	SCN7A	A	2	2
SCN7A	6332	broad.mit.edu	36	2	167006453	167006453	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167006453G>T	uc002udu.1	-	c.1856C>A	c.(1855-1857)TCT>TAT	p.S619Y	SCN7A_uc010fpm.1_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	619					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.290323	83.235673	88.130335	36	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167006453	167006453	14405	2	G	T	T	33	33	SCN7A	T	3	3
XIRP2	129446	broad.mit.edu	36	2	167468316	167468316	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167468316T>C	uc002udx.1	+	c.78T>C	c.(76-78)TGT>TGC	p.C26C	XIRP2_uc010fpn.1_Silent_p.C26C|XIRP2_uc010fpo.1_Silent_p.C26C|XIRP2_uc010fpp.1_Silent_p.C26C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.272727	67.667736	71.760832	24	64	TT		KEEP	---	---	---	---	capture			Silent	SNP	167468316	167468316	18011	2	T	C	C	58	58	XIRP2	C	4	4
XIRP2	129446	broad.mit.edu	36	2	167782945	167782945	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167782945C>T	uc002udx.1	+	c.747C>T	c.(745-747)TGC>TGT	p.C249C	XIRP2_uc010fpn.1_Silent_p.C282C|XIRP2_uc010fpo.1_Silent_p.C249C|XIRP2_uc010fpp.1_Silent_p.C249C|XIRP2_uc002udy.2_Silent_p.C74C|XIRP2_uc010fpq.1_Silent_p.C27C|XIRP2_uc010fpr.1_Silent_p.C27C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	74					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.543307	199.791953	200.001835	69	58	CC		KEEP	---	---	---	---	capture			Silent	SNP	167782945	167782945	18011	2	C	T	T	27	27	XIRP2	T	1	1
XIRP2	129446	broad.mit.edu	36	2	167810638	167810638	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167810638G>A	uc002udx.1	+	c.4490G>A	c.(4489-4491)CGA>CAA	p.R1497Q	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R1322Q|XIRP2_uc010fpq.1_Missense_Mutation_p.R1275Q|XIRP2_uc010fpr.1_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1322	Xin 27.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.270073	89.012885	95.548636	37	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167810638	167810638	18011	2	G	A	A	37	37	XIRP2	A	1	1
XIRP2	129446	broad.mit.edu	36	2	167811923	167811923	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167811923A>G	uc002udx.1	+	c.5775A>G	c.(5773-5775)TCA>TCG	p.S1925S	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Silent_p.S1750S|XIRP2_uc010fpq.1_Silent_p.S1703S|XIRP2_uc010fpr.1_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1750	Potential.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.505747	138.812152	138.814999	44	43	AA		KEEP	---	---	---	---	capture			Silent	SNP	167811923	167811923	18011	2	A	G	G	6	6	XIRP2	G	4	4
XIRP2	129446	broad.mit.edu	36	2	167812299	167812299	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167812299C>T	uc002udx.1	+	c.6151C>T	c.(6151-6153)CAT>TAT	p.H2051Y	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.H1876Y|XIRP2_uc010fpq.1_Missense_Mutation_p.H1829Y|XIRP2_uc010fpr.1_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1876					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.183673	35.585805	44.794231	18	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167812299	167812299	18011	2	C	T	T	21	21	XIRP2	T	2	2
XIRP2	129446	broad.mit.edu	36	2	167812918	167812918	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167812918C>T	uc002udx.1	+	c.6770C>T	c.(6769-6771)ACA>ATA	p.T2257I	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T2082I|XIRP2_uc010fpq.1_Missense_Mutation_p.T2035I|XIRP2_uc010fpr.1_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2082					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.302752	79.324431	83.11574	33	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167812918	167812918	18011	2	C	T	T	17	17	XIRP2	T	2	2
XIRP2	129446	broad.mit.edu	36	2	167815812	167815812	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167815812C>T	uc002udx.1	+	c.9664C>T	c.(9664-9666)CGT>TGT	p.R3222C	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3047C|XIRP2_uc010fpq.1_Missense_Mutation_p.R3000C|XIRP2_uc010fpr.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3047					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.242604	92.088267	102.301162	41	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167815812	167815812	18011	2	C	T	T	31	31	XIRP2	T	1	1
XIRP2	129446	broad.mit.edu	36	2	167816181	167816181	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167816181G>A	uc002udx.1	+	c.10033G>A	c.(10033-10035)GTT>ATT	p.V3345I	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V3170I|XIRP2_uc010fpq.1_Missense_Mutation_p.V3123I|XIRP2_uc010fpr.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3170					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.271357	136.555246	145.941586	54	145	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167816181	167816181	18011	2	G	A	A	36	36	XIRP2	A	2	2
XIRP2	129446	broad.mit.edu	36	2	167816419	167816419	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167816419C>T	uc002udx.1	+	c.10271C>T	c.(10270-10272)GCA>GTA	p.A3424V	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A3249V|XIRP2_uc010fpq.1_Missense_Mutation_p.A3202V|XIRP2_uc010fpr.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3249					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.539568	208.706588	208.893557	75	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167816419	167816419	18011	2	C	T	T	25	25	XIRP2	T	2	2
STK39	27347	broad.mit.edu	36	2	168732160	168732160	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:168732160C>A	uc002uea.1	-	c.325G>T	c.(325-327)GAA>TAA	p.E109*		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	109	Protein kinase.				protein phosphorylation|response to stress	cytoplasm|nucleus	ATP binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2										264				0.238636	41.999136	47.522305	21	67	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	168732160	168732160	15825	2	C	A	A	32	32	STK39	A	5	3
LASS6	253782	broad.mit.edu	36	2	169330450	169330450	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169330450C>T	uc002uec.1	+	c.948C>T	c.(946-948)TGC>TGT	p.C316C	LASS6_uc002ueb.1_Silent_p.C316C	NM_203463	NP_982288	Q6ZMG9	LASS6_HUMAN	longevity assurance homolog 6	316	TLC.|Helical; (Potential).				regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0														0.276471	121.145678	128.795722	47	123	CC		KEEP	---	---	---	---	capture			Silent	SNP	169330450	169330450	8966	2	C	T	T	28	28	LASS6	T	2	2
SPC25	57405	broad.mit.edu	36	2	169436276	169436276	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169436276C>T	uc002uel.1	-	c.586G>A	c.(586-588)GAA>AAA	p.E196K		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	spindle pole body component 25	196	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														0.291429	134.046813	140.870856	51	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	169436276	169436276	15532	2	C	T	T	32	32	SPC25	T	2	2
ABCB11	8647	broad.mit.edu	36	2	169534903	169534903	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169534903G>A	uc002ueo.1	-	c.1707C>T	c.(1705-1707)ATC>ATT	p.I569I		NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	569	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)									0.324561	93.238668	96.351126	37	77	GG		KEEP	---	---	---	---	capture			Silent	SNP	169534903	169534903	43	2	G	A	A	37	37	ABCB11	A	1	1
DHRS9	10170	broad.mit.edu	36	2	169648165	169648165	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169648165G>T	uc002uep.1	+	c.394G>T	c.(394-396)GAA>TAA	p.E132*	DHRS9_uc002ueq.1_Nonsense_Mutation_p.E132*	NM_005771	NP_954674	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	132					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|oxidation-reduction process|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0														0.543689	306.863759	307.201361	112	94	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	169648165	169648165	4677	2	G	T	T	33	33	DHRS9	T	5	3
LRP2	4036	broad.mit.edu	36	2	169704060	169704060	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169704060G>A	uc002ues.1	-	c.13335C>T	c.(13333-13335)TTC>TTT	p.F4445F		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4445	Helical; (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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.333333	119.237311	122.554784	45	90	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Silent	SNP	169704060	169704060	9329	2	G	A	A	33	33	LRP2	A	2	2
LRP2	4036	broad.mit.edu	36	2	169711564	169711564	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169711564C>A	uc002ues.1	-	c.12742G>T	c.(12742-12744)GAC>TAC	p.D4248Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4248	LDL-receptor class B 37.|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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.229508	88.741197	101.032073	42	141	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169711564	169711564	9329	2	C	A	A	29	29	LRP2	A	3	3
LRP2	4036	broad.mit.edu	36	2	169715733	169715733	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169715733G>T	uc002ues.1	-	c.12511C>A	c.(12511-12513)CTT>ATT	p.L4171I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4171	Extracellular (Potential).|LDL-receptor class B 35.				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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.211712	102.594153	119.662011	47	175	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169715733	169715733	9329	2	G	T	T	36	36	LRP2	T	3	3
LRP2	4036	broad.mit.edu	36	2	169763661	169763661	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169763661C>T	uc002ues.1	-	c.8459G>A	c.(8458-8460)CGC>CAC	p.R2820H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2820	LDL-receptor class A 19.|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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.597222	127.432331	128.026853	43	29	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169763661	169763661	9329	2	C	T	T	27	27	LRP2	T	1	1
LRP2	4036	broad.mit.edu	36	2	169768927	169768927	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169768927A>G	uc002ues.1	-	c.7816T>C	c.(7816-7818)TAC>CAC	p.Y2606H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2606	LDL-receptor class B 29.|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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.234987	241.574607	266.177248	90	293	AA		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169768927	169768927	9329	2	A	G	G	13	13	LRP2	G	4	4
LRP2	4036	broad.mit.edu	36	2	169800784	169800784	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169800784G>A	uc002ues.1	-	c.4732C>T	c.(4732-4734)CGC>TGC	p.R1578C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1578	LDL-receptor class B 12.|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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.389831	62.006652	62.635439	23	36	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169800784	169800784	9329	2	G	A	A	37	37	LRP2	A	1	1
LRP2	4036	broad.mit.edu	36	2	169806092	169806092	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169806092C>A	uc002ues.1	-	c.3697G>T	c.(3697-3699)GAT>TAT	p.D1233Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1233	Extracellular (Potential).|LDL-receptor class A 13.				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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.254808	116.659995	128.019827	53	155	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169806092	169806092	9329	2	C	A	A	32	32	LRP2	A	3	3
LRP2	4036	broad.mit.edu	36	2	169842570	169842570	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169842570G>A	uc002ues.1	-	c.1703C>T	c.(1702-1704)TCG>TTG	p.S568L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	568	LDL-receptor class B 3.|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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)				p.S568L(HCT116-Tumor)	2055				0.344978	209.356168	214.215683	79	150	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169842570	169842570	9329	2	G	A	A	37	37	LRP2	A	1	1
LRP2	4036	broad.mit.edu	36	2	169855613	169855613	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169855613C>T	uc002ues.1	-	c.910G>A	c.(910-912)GGA>AGA	p.G304R		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	304	LDL-receptor class A 7.|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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.341772	78.299251	80.047795	27	52	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169855613	169855613	9329	2	C	T	T	23	23	LRP2	T	1	1
FASTKD1	79675	broad.mit.edu	36	2	170127979	170127979	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170127979A>G	uc002uev.2	-	c.572_splice	c.e4+1	p.S191_splice	FASTKD1_uc002uew.2_Splice_Site_SNP|FASTKD1_uc002uex.2_Splice_Site_SNP_p.S177_splice|FASTKD1_uc002uey.2_Splice_Site_SNP_p.S154_splice	NM_024622	NP_078898			FAST kinase domains 1						apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4														0.245455	76.884256	83.365575	27	83	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	170127979	170127979	5921	2	A	G	G	14	14	FASTKD1	G	5	4
FASTKD1	79675	broad.mit.edu	36	2	170128058	170128058	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170128058C>T	uc002uev.2	-	c.495G>A	c.(493-495)CAG>CAA	p.Q165Q	FASTKD1_uc002uew.2_Non-coding_Transcript|FASTKD1_uc002uex.2_Silent_p.Q151Q|FASTKD1_uc002uey.2_Silent_p.Q128Q	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	165					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4														0.254902	97.148364	105.490605	39	114	CC		KEEP	---	---	---	---	capture			Silent	SNP	170128058	170128058	5921	2	C	T	T	28	28	FASTKD1	T	2	2
C2orf77	129881	broad.mit.edu	36	2	170210848	170210848	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170210848C>A	uc002ufe.2	-	c.1408G>T	c.(1408-1410)GAA>TAA	p.E470*		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	470	Potential.										0														0.261053	273.545594	298.123952	124	351	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	170210848	170210848	2284	2	C	A	A	32	32	C2orf77	A	5	3
C2orf77	129881	broad.mit.edu	36	2	170214077	170214077	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170214077C>A	uc002ufe.2	-	c.1178G>T	c.(1177-1179)AGA>ATA	p.R393I		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	393	Potential.										0														0.42268	109.247659	109.755868	41	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170214077	170214077	2284	2	C	A	A	32	32	C2orf77	A	3	3
C2orf77	129881	broad.mit.edu	36	2	170239472	170239472	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170239472G>A	uc002ufe.2	-	c.522C>T	c.(520-522)TTC>TTT	p.F174F		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	174											0														0.227273	22.624625	25.630338	10	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	170239472	170239472	2284	2	G	A	A	41	41	C2orf77	A	2	2
C2orf77	129881	broad.mit.edu	36	2	170245893	170245893	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170245893C>A	uc002ufe.2	-	c.164G>T	c.(163-165)TGG>TTG	p.W55L		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	55	Potential.										0														0.300546	137.944676	144.453767	55	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170245893	170245893	2284	2	C	A	A	21	21	C2orf77	A	3	3
PHOSPHO2	493911	broad.mit.edu	36	2	170266032	170266032	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170266032C>T	uc002ufg.1	+	c.305C>T	c.(304-306)TCG>TTG	p.S102L	KLHL23_uc002ufh.1_Intron|PHOSPHO2_uc010fpz.1_Missense_Mutation_p.S102L	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	102							metal ion binding|pyridoxal phosphatase activity				0														0.33871	111.218442	114.067531	42	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170266032	170266032	12281	2	C	T	T	31	31	PHOSPHO2	T	1	1
UBR3	130507	broad.mit.edu	36	2	170644724	170644724	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170644724T>G	uc002uft.2	+	c.1925T>G	c.(1924-1926)TTT>TGT	p.F642C	UBR3_uc002ufs.2_Missense_Mutation_p.F638C|UBR3_uc002ufr.2_Non-coding_Transcript|UBR3_uc010fqa.1_Missense_Mutation_p.F606C|UBR3_uc002ufu.2_Missense_Mutation_p.F291C	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1785	Cys-rich.				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0														0.192661	104.329101	123.548936	42	176	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170644724	170644724	17461	2	T	G	G	64	64	UBR3	G	4	4
MYO3B	140469	broad.mit.edu	36	2	170946795	170946795	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170946795G>T	uc002ufy.1	+	c.995G>T	c.(994-996)AGA>ATA	p.R332I	MYO3B_uc002ufv.2_Missense_Mutation_p.R332I|MYO3B_uc010fqb.1_Missense_Mutation_p.R332I|MYO3B_uc002ufz.1_Missense_Mutation_p.R332I|MYO3B_uc002ufw.1_Non-coding_Transcript|MYO3B_uc002ufx.1_Non-coding_Transcript|MYO3B_uc002uga.2_Missense_Mutation_p.R319I|MYO3B_uc002ugb.1_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	332					protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16										1118				0.265487	68.190318	73.812962	30	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170946795	170946795	10472	2	G	T	T	33	33	MYO3B	T	3	3
MYO3B	140469	broad.mit.edu	36	2	170946869	170946869	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170946869G>A	uc002ufy.1	+	c.1068_splice	c.e10+1	p.E356_splice	MYO3B_uc002ufv.2_Splice_Site_SNP_p.E356_splice|MYO3B_uc010fqb.1_Splice_Site_SNP_p.E356_splice|MYO3B_uc002ufz.1_Splice_Site_SNP_p.E356_splice|MYO3B_uc002ufw.1_Splice_Site_SNP|MYO3B_uc002ufx.1_Splice_Site_SNP|MYO3B_uc002uga.2_Missense_Mutation_p.V344I|MYO3B_uc002ugb.1_Splice_Site_SNP	NM_138995	NP_620482			myosin IIIB isoform 2						protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16										1118				0.236842	38.808415	43.622224	18	58	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	170946869	170946869	10472	2	G	A	A	44	44	MYO3B	A	5	2
SP5	389058	broad.mit.edu	36	2	171281396	171281396	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:171281396G>A	uc002uge.1	+	c.433G>A	c.(433-435)GCC>ACC	p.A145T		NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.416667	24.758624	24.900112	10	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171281396	171281396	15467	2	G	A	A	38	38	SP5	A	1	1
GAD1	2571	broad.mit.edu	36	2	171412492	171412492	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:171412492C>T	uc002ugi.1	+	c.1063C>T	c.(1063-1065)CCG>TCG	p.P355S	GAD1_uc010fqc.1_5'Flank	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	355					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.546196	605.570018	606.249747	201	167	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171412492	171412492	6430	2	C	T	T	30	30	GAD1	T	2	2
TLK1	9874	broad.mit.edu	36	2	171725162	171725162	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:171725162C>T	uc002ugo.1	-	c.23G>A	c.(22-24)GGA>GAA	p.G8E	TLK1_uc002ugn.1_Missense_Mutation_p.G8E|TLK1_uc002ugp.1_Intron|TLK1_uc002ugq.1_Non-coding_Transcript	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	8					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|protein phosphorylation|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1										247				0.278481	53.41296	56.902773	22	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171725162	171725162	16473	2	C	T	T	30	30	TLK1	T	2	2
SLC25A12	8604	broad.mit.edu	36	2	172378135	172378135	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:172378135C>A	uc002uhh.1	-	c.1131G>T	c.(1129-1131)AAG>AAT	p.K377N	SLC25A12_uc010fqh.1_Missense_Mutation_p.K270N	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25 (mitochondrial carrier,	377	Solcar 1.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0					L-Aspartic Acid(DB00128)									0.306122	179.108044	187.336064	75	170	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.216)		Missense_Mutation	SNP	172378135	172378135	14971	2	C	A	A	32	32	SLC25A12	A	3	3
HAT1	8520	broad.mit.edu	36	2	172530164	172530164	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:172530164G>A	uc002uhi.1	+	c.369G>A	c.(367-369)ACG>ACA	p.T123T	HAT1_uc010fqi.1_5'UTR|HAT1_uc002uhj.1_Silent_p.T38T	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1 isoform a	123					chromatin silencing at telomere|DNA packaging	cytoplasm|nucleus	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2														0.336735	85.338747	87.652393	33	65	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.216)		Silent	SNP	172530164	172530164	7246	2	G	A	A	37	37	HAT1	A	1	1
DLX1	1745	broad.mit.edu	36	2	172659816	172659816	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:172659816A>G	uc002uhl.1	+	c.502A>G	c.(502-504)ACA>GCA	p.T168A	DLX1_uc010fqj.1_Missense_Mutation_p.T168A|DLX1_uc002uhm.1_Intron	NM_178120	NP_835221	P56177	DLX1_HUMAN	distal-less homeobox 1 isoform 1	168	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.277778	128.44306	137.406733	55	143	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.216)		Missense_Mutation	SNP	172659816	172659816	4750	2	A	G	G	6	6	DLX1	G	4	4
ITGA6	3655	broad.mit.edu	36	2	173047952	173047952	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:173047952G>T	uc002uhp.1	+	c.1036G>T	c.(1036-1038)GAA>TAA	p.E346*	ITGA6_uc010fqk.1_Nonsense_Mutation_p.E232*|ITGA6_uc002uho.1_Nonsense_Mutation_p.E346*|ITGA6_uc010fqm.1_5'UTR	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	385	FG-GAP 5.|Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of apoptosis	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2														0.166667	38.697551	53.882653	24	120	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		Nonsense_Mutation	SNP	173047952	173047952	8184	2	G	T	T	33	33	ITGA6	T	5	3
RAPGEF4	11069	broad.mit.edu	36	2	173540277	173540277	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:173540277G>A	uc002uhv.2	+	c.863G>A	c.(862-864)CGA>CAA	p.R288Q	RAPGEF4_uc002uhu.2_Missense_Mutation_p.R288Q|RAPGEF4_uc002uhw.2_Missense_Mutation_p.R144Q|RAPGEF4_uc010fqo.1_Missense_Mutation_p.R117Q|RAPGEF4_uc010fqp.1_Missense_Mutation_p.R68Q	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	288	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|kidney(1)|central_nervous_system(1)	4														0.25	27.277587	30.004645	12	36	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.194)		Missense_Mutation	SNP	173540277	173540277	13506	2	G	A	A	37	37	RAPGEF4	A	1	1
RAPGEF4	11069	broad.mit.edu	36	2	173558438	173558438	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:173558438T>G	uc002uhv.2	+	c.1121T>G	c.(1120-1122)TTT>TGT	p.F374C	RAPGEF4_uc002uhu.2_Missense_Mutation_p.F374C|RAPGEF4_uc002uhw.2_Missense_Mutation_p.F230C|RAPGEF4_uc010fqo.1_Missense_Mutation_p.F203C|RAPGEF4_uc010fqp.1_Missense_Mutation_p.F154C	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	374	cAMP 2.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|kidney(1)|central_nervous_system(1)	4														0.271429	284.084924	300.562775	95	255	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.194)		Missense_Mutation	SNP	173558438	173558438	13506	2	T	G	G	64	64	RAPGEF4	G	4	4
ZAK	51776	broad.mit.edu	36	2	173782759	173782759	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:173782759G>A	uc002uhz.1	+	c.801G>A	c.(799-801)ACG>ACA	p.T267T	ZAK_uc002uhx.2_Silent_p.T267T|ZAK_uc002uhy.1_Silent_p.T267T|ZAK_uc002uia.1_Silent_p.T267T	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	267	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|ovary(1)	4										532				0.506944	213.667769	213.673712	73	71	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.176)		Silent	SNP	173782759	173782759	18095	2	G	A	A	37	37	ZAK	A	1	1
OLA1	29789	broad.mit.edu	36	2	174796072	174796072	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:174796072C>T	uc002uih.1	-	c.308G>A	c.(307-309)GGG>GAG	p.G103E	OLA1_uc002uii.1_5'UTR|OLA1_uc010fqq.1_Missense_Mutation_p.G103E|OLA1_uc002uij.1_5'UTR|OLA1_uc002uik.1_Missense_Mutation_p.G73E|OLA1_uc010fqr.1_Missense_Mutation_p.G103E	NM_013341	NP_001011708	Q9NTK5	OLA1_HUMAN	GTP-binding protein PTD004 isoform 1	103	G.				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			ovary(1)|breast(1)	2														0.222222	61.582767	69.89285	26	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	174796072	174796072	11255	2	C	T	T	22	22	OLA1	T	2	2
RAD51AP2	729475	broad.mit.edu	36	2	17561913	17561913	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:17561913C>A	uc002rcl.1	-	c.1251G>T	c.(1249-1251)AAG>AAT	p.K417N	RAD51AP2_uc010exn.1_Missense_Mutation_p.K408N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	417										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.269231	61.940843	66.949093	28	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17561913	17561913	13447	2	C	A	A	32	32	RAD51AP2	A	3	3
RAD51AP2	729475	broad.mit.edu	36	2	17562860	17562860	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:17562860G>T	uc002rcl.1	-	c.304C>A	c.(304-306)CTG>ATG	p.L102M	RAD51AP2_uc010exn.1_Missense_Mutation_p.L93M	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	102										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.614379	266.865509	268.621677	94	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17562860	17562860	13447	2	G	T	T	33	33	RAD51AP2	T	3	3
ATF2	1386	broad.mit.edu	36	2	175684626	175684626	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:175684626G>A	uc002ujl.1	-	c.744C>T	c.(742-744)CTC>CTT	p.L248L	ATF2_uc002ujv.1_5'UTR|ATF2_uc002ujm.1_Silent_p.L190L|ATF2_uc002uju.1_Non-coding_Transcript|ATF2_uc002ujn.1_Non-coding_Transcript|ATF2_uc002ujo.1_Intron|ATF2_uc002ujp.1_Non-coding_Transcript|ATF2_uc002ujq.1_Silent_p.L248L|ATF2_uc010fqu.1_Silent_p.L230L|ATF2_uc002ujr.1_Non-coding_Transcript|ATF2_uc002ujs.1_Silent_p.L190L|ATF2_uc002ujt.1_Non-coding_Transcript|ATF2_uc010fqv.1_Silent_p.L199L|ATF2_uc002ujw.1_Silent_p.L190L|ATF2_uc002ujx.1_Non-coding_Transcript	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	248					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|pancreas(1)	2						Pancreas(17;87 705 4534 15538 30988)				377				0.551724	286.004306	286.408398	96	78	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.125)		Silent	SNP	175684626	175684626	1099	2	G	A	A	37	37	ATF2	A	1	1
KIAA1715	80856	broad.mit.edu	36	2	176520655	176520655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:176520655G>A	uc002ukc.1	-	c.505C>T	c.(505-507)CGA>TGA	p.R169*	KIAA1715_uc010fqw.1_Nonsense_Mutation_p.R235*|KIAA1715_uc002ukd.1_Nonsense_Mutation_p.R46*	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	169	Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(1)	1														0.363128	165.323458	168.274421	65	114	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		Nonsense_Mutation	SNP	176520655	176520655	8564	2	G	A	A	38	38	KIAA1715	A	5	1
EVX2	344191	broad.mit.edu	36	2	176655239	176655239	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:176655239C>T	uc002uke.1	-	c.612G>A	c.(610-612)GAG>GAA	p.E204E		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	204	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(2)	2														0.34375	32.01613	32.705819	11	21	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	Silent	SNP	176655239	176655239	5488	2	C	T	T	32	32	EVX2	T	2	2
HOXD13	3239	broad.mit.edu	36	2	176667550	176667550	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:176667550A>G	uc002ukf.1	+	c.878A>G	c.(877-879)AAC>AGC	p.N293S		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	293	Homeobox.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|transcription regulator activity				0										34				0.321739	117.149996	120.387268	37	78	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	Missense_Mutation	SNP	176667550	176667550	7614	2	A	G	G	2	2	HOXD13	G	4	4
HOXD11	3237	broad.mit.edu	36	2	176680401	176680401	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:176680401C>T	uc002uki.1	+	c.72C>T	c.(70-72)GCC>GCT	p.A24A	HOXD11_uc010fqx.1_Intron	NM_021192	NP_067015	P31277	HXD11_HUMAN	homeobox D11	24					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0										35				0.28	37.046332	39.211508	14	36	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	Silent	SNP	176680401	176680401	7612	2	C	T	T	22	22	HOXD11	T	2	2
HOXD10	3236	broad.mit.edu	36	2	176690479	176690479	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:176690479C>T	uc002ukj.1	+	c.672C>T	c.(670-672)GGC>GGT	p.G224G		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	224						nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(1)	1										294				0.630137	134.160745	135.253126	46	27	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	Silent	SNP	176690479	176690479	7611	2	C	T	T	26	26	HOXD10	T	2	2
HOXD10	3236	broad.mit.edu	36	2	176692102	176692102	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:176692102A>G	uc002ukj.1	+	c.920A>G	c.(919-921)GAC>GGC	p.D307G		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	307	Homeobox.					nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(1)	1										294				0.548571	327.52464	327.885682	96	79	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	Missense_Mutation	SNP	176692102	176692102	7611	2	A	G	G	10	10	HOXD10	G	4	4
HOXD3	3232	broad.mit.edu	36	2	176744695	176744695	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:176744695A>G	uc002ukt.1	+	c.746A>G	c.(745-747)TAC>TGC	p.Y249C		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	249	Homeobox.				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|regulation of transcription, DNA-dependent|thyroid gland development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.316547	134.265095	138.417029	44	95	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	Missense_Mutation	SNP	176744695	176744695	7615	2	A	G	G	14	14	HOXD3	G	4	4
MYT1L	23040	broad.mit.edu	36	2	1775242	1775242	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:1775242A>G	uc002qxe.1	-	c.3278T>C	c.(3277-3279)ATT>ACT	p.I1093T	MYT1L_uc002qxd.1_Missense_Mutation_p.I1091T|MYT1L_uc010ewk.1_Missense_Mutation_p.I91T	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1093	Potential.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	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)												0.365079	72.512667	73.519496	23	40	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	Missense_Mutation	SNP	1775242	1775242	10502	2	A	G	G	4	4	MYT1L	G	4	4
NFE2L2	4780	broad.mit.edu	36	2	177803890	177803890	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:177803890C>T	uc002ulh.2	-	c.1687G>A	c.(1687-1689)GAA>AAA	p.E563K	NFE2L2_uc002uli.2_Missense_Mutation_p.E547K|NFE2L2_uc002ulf.2_Missense_Mutation_p.E540K|NFE2L2_uc002ulg.2_Missense_Mutation_p.E547K	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor (erythroid-derived 2)-like 2	563					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.285199	195.501599	206.978868	79	198	CC		KEEP	---	---	---	---	capture	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		Missense_Mutation	SNP	177803890	177803890	10768	2	C	T	T	31	31	NFE2L2	T	1	1
NFE2L2	4780	broad.mit.edu	36	2	177804407	177804407	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:177804407C>T	uc002ulh.2	-	c.1170G>A	c.(1168-1170)CAG>CAA	p.Q390Q	NFE2L2_uc002uli.2_Silent_p.Q374Q|NFE2L2_uc002ulf.2_Silent_p.Q367Q|NFE2L2_uc002ulg.2_Silent_p.Q374Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor (erythroid-derived 2)-like 2	390					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.33913	212.764978	218.034433	78	152	CC		KEEP	---	---	---	---	capture	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		Silent	SNP	177804407	177804407	10768	2	C	T	T	32	32	NFE2L2	T	2	2
TTC30B	150737	broad.mit.edu	36	2	178123937	178123937	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:178123937T>C	uc002uln.1	-	c.1801A>G	c.(1801-1803)ACA>GCA	p.T601A		NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	601					cell projection organization	cilium	binding				0														0.545213	655.101396	655.771461	205	171	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		Missense_Mutation	SNP	178123937	178123937	17254	2	T	C	C	59	59	TTC30B	C	4	4
TTC30B	150737	broad.mit.edu	36	2	178124250	178124250	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:178124250G>A	uc002uln.1	-	c.1488C>T	c.(1486-1488)GTC>GTT	p.V496V		NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	496					cell projection organization	cilium	binding				0														0.103448	11.110912	56.56888	30	260	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		Silent	SNP	178124250	178124250	17254	2	G	A	A	45	45	TTC30B	A	2	2
TTC30B	150737	broad.mit.edu	36	2	178125040	178125040	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:178125040C>T	uc002uln.1	-	c.698G>A	c.(697-699)GGC>GAC	p.G233D		NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	233					cell projection organization	cilium	binding				0														0.29697	123.999684	130.08881	49	116	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		Missense_Mutation	SNP	178125040	178125040	17254	2	C	T	T	26	26	TTC30B	T	2	2
TTC30B	150737	broad.mit.edu	36	2	178125302	178125302	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:178125302C>A	uc002uln.1	-	c.436G>T	c.(436-438)GAG>TAG	p.E146*		NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	146					cell projection organization	cilium	binding				0														0.284024	424.007414	452.402812	192	484	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		Nonsense_Mutation	SNP	178125302	178125302	17254	2	C	A	A	32	32	TTC30B	A	5	3
GEN1	348654	broad.mit.edu	36	2	17817402	17817402	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:17817402C>T	uc002rct.1	+	c.823C>T	c.(823-825)CGT>TGT	p.R275C	SMC6_uc010exo.1_Intron|GEN1_uc002rcu.1_Missense_Mutation_p.R275C	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	275			R -> L (in a breast cancer sample; somatic mutation).		DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.273684	62.405338	66.792057	26	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17817402	17817402	6603	2	C	T	T	19	19	GEN1	T	1	1
GEN1	348654	broad.mit.edu	36	2	17825694	17825694	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:17825694C>A	uc002rct.1	+	c.1734C>A	c.(1732-1734)TCC>TCA	p.S578S	SMC6_uc010exo.1_Intron|GEN1_uc002rcu.1_Silent_p.S578S	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	578					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.5	292.918748	292.918748	95	95	CC		KEEP	---	---	---	---	capture			Silent	SNP	17825694	17825694	6603	2	C	A	A	23	23	GEN1	A	3	3
GEN1	348654	broad.mit.edu	36	2	17826051	17826051	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:17826051T>G	uc002rct.1	+	c.2091T>G	c.(2089-2091)ACT>ACG	p.T697T	SMC6_uc010exo.1_Intron|GEN1_uc002rcu.1_Silent_p.T697T	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	697					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.228972	112.254139	126.680125	49	165	TT		KEEP	---	---	---	---	capture			Silent	SNP	17826051	17826051	6603	2	T	G	G	56	56	GEN1	G	4	4
PDE11A	50940	broad.mit.edu	36	2	178587409	178587409	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:178587409C>T	uc002ulq.1	-	c.937G>A	c.(937-939)GAC>AAC	p.D313N	PDE11A_uc002ulr.1_Missense_Mutation_p.D63N|PDE11A_uc002ult.1_Missense_Mutation_p.D63N	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	313	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														0.27027	72.501608	77.786297	30	81	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Missense_Mutation	SNP	178587409	178587409	12052	2	C	T	T	31	31	PDE11A	T	1	1
RBM45	129831	broad.mit.edu	36	2	178693306	178693306	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:178693306C>A	uc002ulv.1	+	c.597C>A	c.(595-597)TCC>TCA	p.S199S		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	199					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0														0.267606	86.575374	93.508981	38	104	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		Silent	SNP	178693306	178693306	13601	2	C	A	A	24	24	RBM45	A	3	3
OSBPL6	114880	broad.mit.edu	36	2	178905965	178905965	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:178905965C>T	uc002uly.1	+	c.608C>T	c.(607-609)TCC>TTC	p.S203F	OSBPL6_uc002ulw.2_Missense_Mutation_p.S203F|OSBPL6_uc002ulx.1_Missense_Mutation_p.S203F|OSBPL6_uc002ulz.1_Missense_Mutation_p.S203F|OSBPL6_uc002uma.1_Missense_Mutation_p.S182F	NM_145739	NP_665682	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	203					lipid transport		lipid binding			pancreas(1)	1														0.490066	213.925943	213.939229	74	77	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		Missense_Mutation	SNP	178905965	178905965	11692	2	C	T	T	30	30	OSBPL6	T	2	2
DFNB59	494513	broad.mit.edu	36	2	179026579	179026579	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179026579G>A	uc002umi.2	+	c.197G>A	c.(196-198)AGA>AAA	p.R66K	PRKRA_uc002umd.1_5'Flank|PRKRA_uc002ume.1_5'Flank|PRKRA_uc002umf.1_5'Flank|PRKRA_uc002umg.1_5'Flank|DFNB59_uc002umj.2_Missense_Mutation_p.R66K	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	66					sensory perception of sound						0														0.297872	35.428318	37.147017	14	33	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		Missense_Mutation	SNP	179026579	179026579	4635	2	G	A	A	33	33	DFNB59	A	2	2
PLEKHA3	65977	broad.mit.edu	36	2	179066957	179066957	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179066957G>A	uc002umn.1	+	c.445G>A	c.(445-447)GCA>ACA	p.A149T		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	149						cytoplasm|membrane				ovary(1)|kidney(1)	2														0.26087	122.939644	133.666518	54	153	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		Missense_Mutation	SNP	179066957	179066957	12483	2	G	A	A	46	46	PLEKHA3	A	2	2
TTN	7273	broad.mit.edu	36	2	179102131	179102131	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179102131C>A	uc002umr.1	-	c.98889G>T	c.(98887-98889)CAG>CAT	p.Q32963H	TTN_uc002ums.1_Missense_Mutation_p.Q26658H|TTN_uc010frc.1_Missense_Mutation_p.Q26591H|TTN_uc010frd.1_Missense_Mutation_p.Q26466H|TTN_uc002umq.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33890										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										8722				0.333333	40.079271	41.262466	16	32	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179102131	179102131	17290	2	C	A	A	32	32	TTN	A	3	3
TTN	7273	broad.mit.edu	36	2	179107513	179107513	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179107513C>A	uc002umr.1	-	c.94371G>T	c.(94369-94371)GAG>GAT	p.E31457D	TTN_uc002ums.1_Missense_Mutation_p.E25152D|TTN_uc010frc.1_Missense_Mutation_p.E25085D|TTN_uc010frd.1_Missense_Mutation_p.E24960D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32384										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										8722				0.320197	154.445939	160.308941	65	138	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179107513	179107513	17290	2	C	A	A	32	32	TTN	A	3	3
TTN	7273	broad.mit.edu	36	2	179109497	179109497	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179109497G>A	uc002umr.1	-	c.92519C>T	c.(92518-92520)TCT>TTT	p.S30840F	TTN_uc002ums.1_Missense_Mutation_p.S24535F|TTN_uc010frc.1_Missense_Mutation_p.S24468F|TTN_uc010frd.1_Missense_Mutation_p.S24343F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31767										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										8722				0.248366	87.770754	96.587919	38	115	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179109497	179109497	17290	2	G	A	A	33	33	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179111648	179111648	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179111648G>A	uc002umr.1	-	c.91450C>T	c.(91450-91452)CGT>TGT	p.R30484C	TTN_uc002ums.1_Missense_Mutation_p.R24179C|TTN_uc010frc.1_Missense_Mutation_p.R24112C|TTN_uc010frd.1_Missense_Mutation_p.R23987C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31411										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										8722				0.252294	249.339241	273.642999	110	326	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179111648	179111648	17290	2	G	A	A	40	40	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179115289	179115289	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179115289G>A	uc002umr.1	-	c.89736C>T	c.(89734-89736)TTC>TTT	p.F29912F	TTN_uc002ums.1_Silent_p.F23607F|TTN_uc010frc.1_Silent_p.F23540F|TTN_uc010frd.1_Silent_p.F23415F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30839										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										8722				0.28125	20.669538	22.041187	9	23	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179115289	179115289	17290	2	G	A	A	37	37	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179116584	179116584	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179116584G>T	uc002umr.1	-	c.88658C>A	c.(88657-88659)TCT>TAT	p.S29553Y	TTN_uc002ums.1_Missense_Mutation_p.S23248Y|TTN_uc010frc.1_Missense_Mutation_p.S23181Y|TTN_uc010frd.1_Missense_Mutation_p.S23056Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30480										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										8722				0.235294	32.958749	37.322804	16	52	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179116584	179116584	17290	2	G	T	T	33	33	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179119205	179119205	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179119205G>T	uc002umr.1	-	c.87395C>A	c.(87394-87396)TCT>TAT	p.S29132Y	TTN_uc002ums.1_Missense_Mutation_p.S22827Y|TTN_uc010frc.1_Missense_Mutation_p.S22760Y|TTN_uc010frd.1_Missense_Mutation_p.S22635Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30059										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										8722				0.540948	713.193128	713.863734	251	213	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179119205	179119205	17290	2	G	T	T	33	33	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179120645	179120645	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179120645G>A	uc002umr.1	-	c.86250C>T	c.(86248-86250)GTC>GTT	p.V28750V	TTN_uc002ums.1_Silent_p.V22445V|TTN_uc010frc.1_Silent_p.V22378V|TTN_uc010frd.1_Silent_p.V22253V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29677										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										8722				0.201149	72.518159	86.9723	35	139	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179120645	179120645	17290	2	G	A	A	33	33	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179126006	179126006	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179126006G>T	uc002umr.1	-	c.82163C>A	c.(82162-82164)CCT>CAT	p.P27388H	TTN_uc002ums.1_Missense_Mutation_p.P21083H|TTN_uc010frc.1_Missense_Mutation_p.P21016H|TTN_uc010frd.1_Missense_Mutation_p.P20891H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28315										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										8722				0.310811	56.29211	58.65452	23	51	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179126006	179126006	17290	2	G	T	T	35	35	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179127101	179127101	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179127101G>A	uc002umr.1	-	c.81279C>T	c.(81277-81279)GGC>GGT	p.G27093G	TTN_uc002ums.1_Silent_p.G20788G|TTN_uc010frc.1_Silent_p.G20721G|TTN_uc010frd.1_Silent_p.G20596G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28020										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									p.G27093G(RT11284-Tumor)|p.G27093G(RT112-Tumor)	8722				0.28866	194.291252	205.941355	84	207	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179127101	179127101	17290	2	G	A	A	38	38	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179132484	179132484	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179132484C>A	uc002umr.1	-	c.78917G>T	c.(78916-78918)GGA>GTA	p.G26306V	TTN_uc002ums.1_Missense_Mutation_p.G20001V|TTN_uc010frc.1_Missense_Mutation_p.G19934V|TTN_uc010frd.1_Missense_Mutation_p.G19809V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27233										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										8722				0.306122	139.316326	145.893726	60	136	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179132484	179132484	17290	2	C	A	A	30	30	TTN	A	3	3
TTN	7273	broad.mit.edu	36	2	179141758	179141758	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179141758G>A	uc002umr.1	-	c.69643C>T	c.(69643-69645)CGG>TGG	p.R23215W	TTN_uc002ums.1_Missense_Mutation_p.R16910W|TTN_uc010frc.1_Missense_Mutation_p.R16843W|TTN_uc010frd.1_Missense_Mutation_p.R16718W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24142										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										8722				0.586957	238.179632	239.088389	81	57	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179141758	179141758	17290	2	G	A	A	37	37	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179144276	179144276	+	Nonsense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179144276A>C	uc002umr.1	-	c.67125T>G	c.(67123-67125)TAT>TAG	p.Y22375*	TTN_uc002ums.1_Nonsense_Mutation_p.Y16070*|TTN_uc010frc.1_Nonsense_Mutation_p.Y16003*|TTN_uc010frd.1_Nonsense_Mutation_p.Y15878*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23302										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										8722				0.334661	247.911136	253.988882	84	167	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Nonsense_Mutation	SNP	179144276	179144276	17290	2	A	C	C	12	12	TTN	C	5	4
TTN	7273	broad.mit.edu	36	2	179145258	179145258	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179145258C>T	uc002umr.1	-	c.66143G>A	c.(66142-66144)CGA>CAA	p.R22048Q	TTN_uc002ums.1_Missense_Mutation_p.R15743Q|TTN_uc010frc.1_Missense_Mutation_p.R15676Q|TTN_uc010frd.1_Missense_Mutation_p.R15551Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22975										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										8722				0.246575	39.712205	43.982434	18	55	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179145258	179145258	17290	2	C	T	T	31	31	TTN	T	1	1
TTN	7273	broad.mit.edu	36	2	179147550	179147550	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179147550G>T	uc002umr.1	-	c.63851C>A	c.(63850-63852)TCT>TAT	p.S21284Y	TTN_uc002ums.1_Missense_Mutation_p.S14979Y|TTN_uc010frc.1_Missense_Mutation_p.S14912Y|TTN_uc010frd.1_Missense_Mutation_p.S14787Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22211										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										8722				0.239819	110.732907	124.420806	53	168	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179147550	179147550	17290	2	G	T	T	33	33	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179156739	179156739	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179156739G>A	uc002umr.1	-	c.57712C>T	c.(57712-57714)CGG>TGG	p.R19238W	TTN_uc002ums.1_Missense_Mutation_p.R12933W|TTN_uc010frc.1_Missense_Mutation_p.R12866W|TTN_uc010frd.1_Missense_Mutation_p.R12741W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20165										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									p.R19238W(SNGM-Tumor)	8722				0.666667	65.66469	66.483789	22	11	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179156739	179156739	17290	2	G	A	A	40	40	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179163251	179163251	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179163251G>A	uc002umr.1	-	c.53743C>T	c.(53743-53745)CGT>TGT	p.R17915C	TTN_uc002ums.1_Missense_Mutation_p.R11610C|TTN_uc010frc.1_Missense_Mutation_p.R11543C|TTN_uc010frd.1_Missense_Mutation_p.R11418C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18842										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										8722				0.564767	327.388798	328.093665	109	84	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179163251	179163251	17290	2	G	A	A	37	37	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179165850	179165850	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179165850G>A	uc002umr.1	-	c.51538C>T	c.(51538-51540)CGG>TGG	p.R17180W	TTN_uc002ums.1_Missense_Mutation_p.R10875W|TTN_uc010frc.1_Missense_Mutation_p.R10808W|TTN_uc010frd.1_Missense_Mutation_p.R10683W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18107										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										8722				0.272936	278.122852	298.394168	119	317	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179165850	179165850	17290	2	G	A	A	37	37	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179165978	179165978	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179165978C>A	uc002umr.1	-	c.51410G>T	c.(51409-51411)CGT>CTT	p.R17137L	TTN_uc002ums.1_Missense_Mutation_p.R10832L|TTN_uc010frc.1_Missense_Mutation_p.R10765L|TTN_uc010frd.1_Missense_Mutation_p.R10640L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18064										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										8722				0.298039	211.192697	220.496855	76	179	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179165978	179165978	17290	2	C	A	A	19	19	TTN	A	3	3
TTN	7273	broad.mit.edu	36	2	179166442	179166442	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179166442G>T	uc002umr.1	-	c.51035C>A	c.(51034-51036)CCT>CAT	p.P17012H	TTN_uc002ums.1_Missense_Mutation_p.P10707H|TTN_uc010frc.1_Missense_Mutation_p.P10640H|TTN_uc010frd.1_Missense_Mutation_p.P10515H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17939										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										8722				0.611111	162.518838	163.487166	55	35	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179166442	179166442	17290	2	G	T	T	35	35	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179167112	179167112	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179167112A>C	uc002umr.1	-	c.50550T>G	c.(50548-50550)GTT>GTG	p.V16850V	TTN_uc002ums.1_Silent_p.V10545V|TTN_uc010frc.1_Silent_p.V10478V|TTN_uc010frd.1_Silent_p.V10353V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17777										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										8722				0.28	101.8408	107.305748	35	90	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179167112	179167112	17290	2	A	C	C	1	1	TTN	C	4	4
TTN	7273	broad.mit.edu	36	2	179170587	179170587	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179170587C>T	uc002umr.1	-	c.49763G>A	c.(49762-49764)AGC>AAC	p.S16588N	TTN_uc002ums.1_Missense_Mutation_p.S10283N|TTN_uc010frc.1_Missense_Mutation_p.S10216N|TTN_uc010frd.1_Missense_Mutation_p.S10091N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17515										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										8722				0.181818	32.78733	42.208806	18	81	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179170587	179170587	17290	2	C	T	T	28	28	TTN	T	2	2
TTN	7273	broad.mit.edu	36	2	179172676	179172676	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179172676G>T	uc002umr.1	-	c.48493C>A	c.(48493-48495)CTC>ATC	p.L16165I	TTN_uc002ums.1_Missense_Mutation_p.L9860I|TTN_uc010frc.1_Missense_Mutation_p.L9793I|TTN_uc010frd.1_Missense_Mutation_p.L9668I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17092										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										8722				0.301158	182.322789	191.48593	78	181	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179172676	179172676	17290	2	G	T	T	33	33	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179174454	179174454	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179174454G>A	uc002umr.1	-	c.47811C>T	c.(47809-47811)GAC>GAT	p.D15937D	TTN_uc002ums.1_Silent_p.D9632D|TTN_uc010frc.1_Silent_p.D9565D|TTN_uc010frd.1_Silent_p.D9440D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16864										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										8722				0.32491	229.558802	237.092333	90	187	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179174454	179174454	17290	2	G	A	A	40	40	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179180512	179180512	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179180512G>A	uc002umr.1	-	c.45444C>T	c.(45442-45444)GAC>GAT	p.D15148D	TTN_uc002ums.1_Silent_p.D8843D|TTN_uc010frc.1_Silent_p.D8776D|TTN_uc010frd.1_Silent_p.D8651D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16075										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										8722				0.278689	508.239428	540.460138	204	528	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179180512	179180512	17290	2	G	A	A	44	44	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179193754	179193754	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179193754G>A	uc002umr.1	-	c.38124C>T	c.(38122-38124)AAC>AAT	p.N12708N	TTN_uc002ums.1_Silent_p.N6403N|TTN_uc010frc.1_Silent_p.N6336N|TTN_uc010frd.1_Silent_p.N6211N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13635										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										8722				0.287059	303.852522	321.154319	122	303	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179193754	179193754	17290	2	G	A	A	36	36	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179202329	179202329	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179202329C>T	uc002umr.1	-	c.36664G>A	c.(36664-36666)GAA>AAA	p.E12222K	TTN_uc002ums.1_Missense_Mutation_p.E5917K|TTN_uc010frc.1_Missense_Mutation_p.E5850K|TTN_uc010frd.1_Missense_Mutation_p.E5725K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13149										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										8722				0.349398	76.947491	78.609688	29	54	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179202329	179202329	17290	2	C	T	T	31	31	TTN	T	1	1
TTN	7273	broad.mit.edu	36	2	179207579	179207579	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179207579C>T	uc002umr.1	-	c.34470G>A	c.(34468-34470)GTG>GTA	p.V11490V	TTN_uc002ums.1_Silent_p.V5185V|TTN_uc010frc.1_Silent_p.V5118V|TTN_uc010frd.1_Silent_p.V4993V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12417										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										8722				0.259259	165.505927	181.124149	77	220	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179207579	179207579	17290	2	C	T	T	25	25	TTN	T	2	2
TTN	7273	broad.mit.edu	36	2	179207718	179207718	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179207718G>A	uc002umr.1	-	c.34424C>T	c.(34423-34425)ACA>ATA	p.T11475I	TTN_uc002ums.1_Missense_Mutation_p.T5170I|TTN_uc010frc.1_Missense_Mutation_p.T5103I|TTN_uc010frd.1_Missense_Mutation_p.T4978I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12402										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										8722				0.275	172.927433	185.713841	77	203	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179207718	179207718	17290	2	G	A	A	48	48	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179207805	179207805	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179207805G>A	uc002umr.1	-	c.34337C>T	c.(34336-34338)GCA>GTA	p.A11446V	TTN_uc002ums.1_Missense_Mutation_p.A5141V|TTN_uc010frc.1_Missense_Mutation_p.A5074V|TTN_uc010frd.1_Missense_Mutation_p.A4949V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12373										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										8722				0.572368	245.124849	245.81736	87	65	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179207805	179207805	17290	2	G	A	A	46	46	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179209040	179209040	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179209040G>A	uc002umr.1	-	c.33799C>T	c.(33799-33801)CGG>TGG	p.R11267W	TTN_uc002ums.1_Missense_Mutation_p.R4962W|TTN_uc010frc.1_Missense_Mutation_p.R4895W|TTN_uc010frd.1_Missense_Mutation_p.R4770W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12194										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										8722				0.316667	82.430007	86.005659	38	82	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179209040	179209040	17290	2	G	A	A	38	38	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179209594	179209594	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179209594G>A	uc002umr.1	-	c.33401C>T	c.(33400-33402)TCT>TTT	p.S11134F	TTN_uc002ums.1_Missense_Mutation_p.S4829F|TTN_uc010frc.1_Missense_Mutation_p.S4762F|TTN_uc010frd.1_Missense_Mutation_p.S4637F|TTN_uc010fre.1_Missense_Mutation_p.S995F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12061										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										8722				0.604167	273.443712	274.80862	87	57	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179209594	179209594	17290	2	G	A	A	33	33	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179213547	179213547	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179213547T>C	uc002umr.1	-	c.32985A>G	c.(32983-32985)ACA>ACG	p.T10995T	TTN_uc002ums.1_Silent_p.T4690T|TTN_uc010frc.1_Silent_p.T4623T|TTN_uc010frd.1_Silent_p.T4498T|TTN_uc010fre.1_Silent_p.T873T|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_Silent_p.T210T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11922										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										8722				0.255245	206.854297	222.385587	73	213	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179213547	179213547	17290	2	T	C	C	63	63	TTN	C	4	4
TTN	7273	broad.mit.edu	36	2	179252325	179252325	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179252325G>T	uc002umr.1	-	c.29996C>A	c.(29995-29997)CCT>CAT	p.P9999H	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6660H|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10926										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										8722				0.354167	128.366155	131.072835	51	93	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179252325	179252325	17290	2	G	T	T	35	35	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179266931	179266931	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179266931G>T	uc002umr.1	-	c.27744C>A	c.(27742-27744)TTC>TTA	p.F9248L	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F5909L|TTN_uc010fre.1_Missense_Mutation_p.F359L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10175										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										8722				0.270833	29.949962	32.226442	13	35	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179266931	179266931	17290	2	G	T	T	33	33	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179277123	179277123	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179277123G>A	uc002umr.1	-	c.26487C>T	c.(26485-26487)ATC>ATT	p.I8829I	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Silent_p.I5490I|TTN_uc010fre.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9756										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										8722				0.227414	160.201681	182.099651	73	248	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179277123	179277123	17290	2	G	A	A	37	37	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179279518	179279518	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179279518T>G	uc002umr.1	-	c.25596A>C	c.(25594-25596)GAA>GAC	p.E8532D	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5193D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9459										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										8722				0.235808	150.137409	164.75359	54	175	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179279518	179279518	17290	2	T	G	G	60	60	TTN	G	4	4
TTN	7273	broad.mit.edu	36	2	179282555	179282555	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179282555G>T	uc002umr.1	-	c.25004C>A	c.(25003-25005)TCT>TAT	p.S8335Y	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4996Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9262										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										8722				0.264368	50.476508	54.85057	23	64	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179282555	179282555	17290	2	G	T	T	33	33	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179283782	179283782	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179283782G>T	uc002umr.1	-	c.24555C>A	c.(24553-24555)AGC>AGA	p.S8185R	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4846R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9112										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										8722				0.289617	131.093781	138.358036	53	130	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179283782	179283782	17290	2	G	T	T	34	34	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179284952	179284952	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179284952C>T	uc002umr.1	-	c.24118G>A	c.(24118-24120)GGA>AGA	p.G8040R	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4701R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8967										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										8722				0.234694	114.444169	127.068947	46	150	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179284952	179284952	17290	2	C	T	T	22	22	TTN	T	2	2
TTN	7273	broad.mit.edu	36	2	179285760	179285760	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179285760G>A	uc002umr.1	-	c.23505C>T	c.(23503-23505)TTC>TTT	p.F7835F	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Silent_p.F4496F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8762										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										8722				0.342342	100.110982	102.551138	38	73	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179285760	179285760	17290	2	G	A	A	37	37	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179286259	179286259	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179286259G>T	uc002umr.1	-	c.23115C>A	c.(23113-23115)GTC>GTA	p.V7705V	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Silent_p.V4366V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8632										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										8722				0.184211	11.524833	15.064696	7	31	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179286259	179286259	17290	2	G	T	T	33	33	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179290143	179290143	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179290143G>A	uc002umr.1	-	c.21831C>T	c.(21829-21831)GGC>GGT	p.G7277G	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Silent_p.G3938G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8204										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									p.G7277G(CL11-Tumor)	8722				0.359551	82.997769	84.533612	32	57	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179290143	179290143	17290	2	G	A	A	38	38	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179293596	179293596	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179293596G>T	uc002umr.1	-	c.19406C>A	c.(19405-19407)GCT>GAT	p.A6469D	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A3130D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7396										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										8722				0.148936	10.191295	15.752504	7	40	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179293596	179293596	17290	2	G	T	T	34	34	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179295738	179295738	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179295738G>A	uc002umr.1	-	c.18401C>T	c.(18400-18402)GCC>GTC	p.A6134V	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2795V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7061										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										8722				0.207792	33.459733	39.54951	16	61	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179295738	179295738	17290	2	G	A	A	42	42	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179296917	179296917	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179296917G>A	uc002umr.1	-	c.17582C>T	c.(17581-17583)TCT>TTT	p.S5861F	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2522F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6788										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										8722				0.583942	248.213002	249.053859	80	57	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179296917	179296917	17290	2	G	A	A	33	33	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179303753	179303753	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179303753G>T	uc002umr.1	-	c.14020C>A	c.(14020-14022)CCT>ACT	p.P4674T	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1335T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5601										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										8722				0.2	63.937157	76.913755	31	124	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179303753	179303753	17290	2	G	T	T	44	44	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179305483	179305483	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179305483G>A	uc002umr.1	-	c.12818C>T	c.(12817-12819)TCG>TTG	p.S4273L	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S934L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5200										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										8722				0.303571	85.039482	88.878794	34	78	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179305483	179305483	17290	2	G	A	A	37	37	TTN	A	1	1
TTN	7273	broad.mit.edu	36	2	179307413	179307413	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179307413G>A	uc002umr.1	-	c.11651C>T	c.(11650-11652)TCT>TTT	p.S3884F	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S545F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4811										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										8722				0.553633	493.107842	493.828644	160	129	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179307413	179307413	17290	2	G	A	A	33	33	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179307502	179307502	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179307502G>A	uc002umr.1	-	c.11562C>T	c.(11560-11562)GTC>GTT	p.V3854V	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Silent_p.V515V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4781										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										8722				0.368664	224.127912	227.423779	80	137	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179307502	179307502	17290	2	G	A	A	33	33	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179337509	179337509	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179337509G>A	uc002umr.1	-	c.9978C>T	c.(9976-9978)CTC>CTT	p.L3326L	TTN_uc002ums.1_Silent_p.L3280L|TTN_uc010frc.1_Silent_p.L3280L|TTN_uc010frd.1_Silent_p.L3280L|TTN_uc002umz.1_5'Flank|TTN_uc002unb.1_Silent_p.L3326L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3326										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										8722				0.221477	154.178517	175.462651	66	232	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179337509	179337509	17290	2	G	A	A	33	33	TTN	A	2	2
TTN	7273	broad.mit.edu	36	2	179339445	179339445	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179339445C>T	uc002umr.1	-	c.9611G>A	c.(9610-9612)CGA>CAA	p.R3204Q	TTN_uc002ums.1_Missense_Mutation_p.R3158Q|TTN_uc010frc.1_Missense_Mutation_p.R3158Q|TTN_uc010frd.1_Missense_Mutation_p.R3158Q|TTN_uc002umz.1_5'Flank|TTN_uc002unb.1_Missense_Mutation_p.R3204Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3204										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										8722				0.544554	325.338906	325.685672	110	92	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179339445	179339445	17290	2	C	T	T	31	31	TTN	T	1	1
TTN	7273	broad.mit.edu	36	2	179346089	179346089	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179346089G>T	uc002umr.1	-	c.7847C>A	c.(7846-7848)ACT>AAT	p.T2616N	TTN_uc002ums.1_Missense_Mutation_p.T2570N|TTN_uc010frc.1_Missense_Mutation_p.T2570N|TTN_uc010frd.1_Missense_Mutation_p.T2570N|TTN_uc002unb.1_Missense_Mutation_p.T2616N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2616										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										8722				0.290598	89.196555	93.797084	34	83	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179346089	179346089	17290	2	G	T	T	36	36	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179349135	179349135	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179349135C>T	uc002umr.1	-	c.5701G>A	c.(5701-5703)GAC>AAC	p.D1901N	TTN_uc002ums.1_Missense_Mutation_p.D1855N|TTN_uc010frc.1_Missense_Mutation_p.D1855N|TTN_uc010frd.1_Missense_Mutation_p.D1855N|TTN_uc002unb.1_Missense_Mutation_p.D1901N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1901										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										8722				0.275862	337.410872	359.697859	136	357	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179349135	179349135	17290	2	C	T	T	30	30	TTN	T	2	2
TTN	7273	broad.mit.edu	36	2	179352421	179352421	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179352421G>T	uc002umr.1	-	c.3743C>A	c.(3742-3744)TCT>TAT	p.S1248Y	TTN_uc002ums.1_Missense_Mutation_p.S1202Y|TTN_uc010frc.1_Missense_Mutation_p.S1202Y|TTN_uc010frd.1_Missense_Mutation_p.S1202Y|TTN_uc002unb.1_Missense_Mutation_p.S1248Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1248										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										8722				0.136364	7.116627	12.755222	6	38	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179352421	179352421	17290	2	G	T	T	33	33	TTN	T	3	3
TTN	7273	broad.mit.edu	36	2	179355345	179355345	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179355345T>C	uc002umr.1	-	c.3219A>G	c.(3217-3219)CAA>CAG	p.Q1073Q	TTN_uc002ums.1_Silent_p.Q1027Q|TTN_uc010frc.1_Silent_p.Q1027Q|TTN_uc010frd.1_Silent_p.Q1027Q|TTN_uc002unb.1_Silent_p.Q1073Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1073										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										8722				0.302752	98.140731	101.92226	33	76	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179355345	179355345	17290	2	T	C	C	56	56	TTN	C	4	4
TTN	7273	broad.mit.edu	36	2	179365062	179365062	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179365062T>C	uc002umr.1	-	c.1644A>G	c.(1642-1644)AAA>AAG	p.K548K	TTN_uc002ums.1_Silent_p.K548K|TTN_uc010frc.1_Silent_p.K548K|TTN_uc010frd.1_Silent_p.K548K|TTN_uc002unb.1_Silent_p.K548K|TTN_uc010frg.1_Silent_p.K222K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	548										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										8722				0.274725	75.341748	79.496846	25	66	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179365062	179365062	17290	2	T	C	C	60	60	TTN	C	4	4
CCDC141	285025	broad.mit.edu	36	2	179445131	179445131	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179445131C>T	uc002unf.1	-	c.328G>A	c.(328-330)GCG>ACG	p.A110T		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	110	Potential.						protein binding			ovary(7)|pancreas(2)	9														0.228814	57.466206	65.426007	27	91	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		Missense_Mutation	SNP	179445131	179445131	2895	2	C	T	T	26	26	CCDC141	T	2	2
ZNF385B	151126	broad.mit.edu	36	2	180016317	180016317	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:180016317G>T	uc002unn.2	-	c.1321C>A	c.(1321-1323)CTC>ATC	p.L441I	ZNF385B_uc002unj.1_Missense_Mutation_p.L339I|ZNF385B_uc002unl.1_Missense_Mutation_p.L338I|ZNF385B_uc002unm.1_Missense_Mutation_p.L365I|ZNF385B_uc002unk.2_Non-coding_Transcript	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	441						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						Colon(155;204 2491 32774 51842)								0.2	13.302923	16.235437	7	28	GG		KEEP	---	---	---	---	capture	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		Missense_Mutation	SNP	180016317	180016317	18469	2	G	T	T	34	34	ZNF385B	T	3	3
ITGA4	3676	broad.mit.edu	36	2	182055622	182055622	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:182055622C>T	uc002unu.1	+	c.1040C>T	c.(1039-1041)TCG>TTG	p.S347L		NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	347	FG-GAP 5.|Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6					Natalizumab(DB00108)									0.306452	189.701917	197.989929	76	172	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Missense_Mutation	SNP	182055622	182055622	8182	2	C	T	T	31	31	ITGA4	T	1	1
ITGA4	3676	broad.mit.edu	36	2	182102534	182102534	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:182102534A>G	uc002unu.1	+	c.2452A>G	c.(2452-2454)ATG>GTG	p.M818V	ITGA4_uc002unv.1_Missense_Mutation_p.M63V	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	818	Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6					Natalizumab(DB00108)									0.339744	171.453267	174.982465	53	103	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Missense_Mutation	SNP	182102534	182102534	8182	2	A	G	G	16	16	ITGA4	G	4	4
ITGA4	3676	broad.mit.edu	36	2	182104659	182104659	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:182104659A>C	uc002unu.1	+	c.2695A>C	c.(2695-2697)AAT>CAT	p.N899H	ITGA4_uc002unv.1_Missense_Mutation_p.N144H	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	899	Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6					Natalizumab(DB00108)									0.541176	314.715919	314.966965	92	78	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Missense_Mutation	SNP	182104659	182104659	8182	2	A	C	C	1	1	ITGA4	C	4	4
CERKL	375298	broad.mit.edu	36	2	182131588	182131588	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:182131588C>T	uc002unx.1	-	c.848G>A	c.(847-849)CGA>CAA	p.R283Q	CERKL_uc010frk.1_Non-coding_Transcript|CERKL_uc002uny.1_Missense_Mutation_p.R257Q|CERKL_uc002unz.1_Missense_Mutation_p.R5Q|CERKL_uc002uob.1_Missense_Mutation_p.R5Q|CERKL_uc002uoa.1_Intron|CERKL_uc002uoc.1_Intron|CERKL_uc002uod.1_Missense_Mutation_p.R52Q|CERKL_uc002uoe.1_Missense_Mutation_p.R257Q	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	283	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|visual perception	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4														0.566176	220.280964	220.801066	77	59	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.088)		Missense_Mutation	SNP	182131588	182131588	3401	2	C	T	T	31	31	CERKL	T	1	1
NCKAP1	10787	broad.mit.edu	36	2	183530522	183530522	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:183530522C>T	uc002upb.1	-	c.1947G>A	c.(1945-1947)AAG>AAA	p.K649K	NCKAP1_uc002upc.1_Silent_p.K643K	NM_205842	NP_995314	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 2	643					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2														0.253456	140.314433	152.292966	55	162	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		Silent	SNP	183530522	183530522	10620	2	C	T	T	32	32	NCKAP1	T	2	2
ZNF804A	91752	broad.mit.edu	36	2	185510676	185510676	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:185510676C>T	uc002uph.1	+	c.2308C>T	c.(2308-2310)CGA>TGA	p.R770*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	770						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.528571	217.547531	217.646429	74	66	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	185510676	185510676	18768	2	C	T	T	31	31	ZNF804A	T	5	1
NT5C1B	93034	broad.mit.edu	36	2	18621080	18621080	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:18621080C>A	uc010exr.1	-	c.1186G>T	c.(1186-1188)GAC>TAC	p.D396Y	NT5C1B_uc002rcy.1_Missense_Mutation_p.D454Y|NT5C1B_uc002rcz.1_Missense_Mutation_p.D454Y|NT5C1B_uc002rda.1_Missense_Mutation_p.D394Y|NT5C1B_uc010exs.1_Missense_Mutation_p.D456Y	NM_033253	NP_150278	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 2	454					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)												0.157303	19.482892	29.468327	14	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18621080	18621080	11091	2	C	A	A	32	32	NT5C1B	A	3	3
NT5C1B	93034	broad.mit.edu	36	2	18629648	18629648	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:18629648G>A	uc010exr.1	-	c.342C>T	c.(340-342)TCC>TCT	p.S114S	NT5C1B_uc002rcy.1_Silent_p.S172S|NT5C1B_uc002rcz.1_Silent_p.S172S|NT5C1B_uc002rda.1_Silent_p.S112S|NT5C1B_uc010exs.1_Silent_p.S174S|NT5C1B_uc002rdb.1_5'UTR	NM_033253	NP_150278	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 2	172	Pro-rich.|Ser-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)												0.633333	58.929274	59.397595	19	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	18629648	18629648	11091	2	G	A	A	39	39	NT5C1B	A	1	1
FSIP2	401024	broad.mit.edu	36	2	186381590	186381590	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:186381590G>T	uc002upn.1	+	c.3406G>T	c.(3406-3408)GAA>TAA	p.E1136*	FSIP2_uc002upm.1_Intron	NM_207482	NP_997365			hypothetical protein LOC401024												0														0.234694	48.366587	54.684811	23	75	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	186381590	186381590	6326	2	G	T	T	33	33	FSIP2	T	5	3
ITGAV	3685	broad.mit.edu	36	2	187222841	187222841	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:187222841C>T	uc002upq.1	+	c.1381C>T	c.(1381-1383)CGA>TGA	p.R461*	ITGAV_uc010frs.1_Nonsense_Mutation_p.R425*	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	461	FG-GAP 7.|Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)	3						Melanoma(58;108 1995 6081)				606				0.563107	174.154116	174.510414	58	45	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Nonsense_Mutation	SNP	187222841	187222841	8192	2	C	T	T	31	31	ITGAV	T	5	1
CALCRL	10203	broad.mit.edu	36	2	187919293	187919293	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:187919293G>A	uc002upv.2	-	c.1249C>T	c.(1249-1251)CGT>TGT	p.R417C	CALCRL_uc010frt.1_Missense_Mutation_p.R417C	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like	417	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1														0.24	55.548371	61.72026	24	76	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		Missense_Mutation	SNP	187919293	187919293	2696	2	G	A	A	37	37	CALCRL	A	1	1
COL5A2	1290	broad.mit.edu	36	2	189608000	189608000	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:189608000C>T	uc002uqk.1	-	c.4240G>A	c.(4240-4242)GAT>AAT	p.D1414N	COL5A2_uc010frx.1_Missense_Mutation_p.D990N	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1414	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2														0.515152	300.231931	300.270745	102	96	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		Missense_Mutation	SNP	189608000	189608000	3835	2	C	T	T	31	31	COL5A2	T	1	1
COL5A2	1290	broad.mit.edu	36	2	189630292	189630292	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:189630292C>T	uc002uqk.1	-	c.2336G>A	c.(2335-2337)AGA>AAA	p.R779K	COL5A2_uc010frx.1_Missense_Mutation_p.R355K	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	779					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2														0.232323	47.698897	54.18042	23	76	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		Missense_Mutation	SNP	189630292	189630292	3835	2	C	T	T	32	32	COL5A2	T	2	2
COL5A2	1290	broad.mit.edu	36	2	189653962	189653962	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:189653962C>T	uc002uqk.1	-	c.905G>A	c.(904-906)CGA>CAA	p.R302Q	COL5A2_uc010frx.1_Missense_Mutation_p.R55Q	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	302					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2														0.259843	76.805268	83.447458	33	94	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		Missense_Mutation	SNP	189653962	189653962	3835	2	C	T	T	31	31	COL5A2	T	1	1
WDR75	84128	broad.mit.edu	36	2	190040509	190040509	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:190040509C>A	uc002uql.1	+	c.1518C>A	c.(1516-1518)TTC>TTA	p.F506L	WDR75_uc002uqm.1_Missense_Mutation_p.F442L|WDR75_uc002uqn.1_Missense_Mutation_p.F284L|WDR75_uc002uqo.1_Missense_Mutation_p.F284L	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	506	WD 8.					nucleolus				ovary(2)	2														0.572414	468.689049	470.001058	166	124	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		Missense_Mutation	SNP	190040509	190040509	17898	2	C	A	A	32	32	WDR75	A	3	3
ASNSD1	54529	broad.mit.edu	36	2	190239810	190239810	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:190239810A>T	uc002uqt.1	+	c.707A>T	c.(706-708)TAT>TTT	p.Y236F		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	236					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)	2														0.2657	135.86104	146.111811	55	152	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		Missense_Mutation	SNP	190239810	190239810	1068	2	A	T	T	16	16	ASNSD1	T	4	4
PMS1	5378	broad.mit.edu	36	2	190427898	190427898	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:190427898T>G	uc002urh.2	+	c.1655T>G	c.(1654-1656)GTA>GGA	p.V552G	PMS1_uc002uri.2_Missense_Mutation_p.V552G|PMS1_uc002urk.2_Missense_Mutation_p.V513G|PMS1_uc002urj.1_Non-coding_Transcript|PMS1_uc010frz.1_Intron|PMS1_uc002url.1_Missense_Mutation_p.V337G|PMS1_uc002urm.1_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.V513G|PMS1_uc002urn.1_Missense_Mutation_p.V220G	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	552					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4										236				0.584615	269.73112	270.53071	76	54	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		Missense_Mutation	SNP	190427898	190427898	12568	2	T	G	G	57	57	PMS1	G	4	4
PMS1	5378	broad.mit.edu	36	2	190450295	190450295	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:190450295A>G	uc002urh.2	+	c.2687A>G	c.(2686-2688)GAC>GGC	p.D896G	PMS1_uc002uri.2_Missense_Mutation_p.D734G|PMS1_uc002urk.2_Missense_Mutation_p.D857G|PMS1_uc002urj.1_Non-coding_Transcript|PMS1_uc010frz.1_Missense_Mutation_p.D212G|PMS1_uc002url.1_Missense_Mutation_p.D519G|PMS1_uc002urm.1_Non-coding_Transcript	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	896					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4										236				0.252252	70.520318	76.736275	28	83	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		Missense_Mutation	SNP	190450295	190450295	12568	2	A	G	G	10	10	PMS1	G	4	4
INPP1	3628	broad.mit.edu	36	2	190944170	190944170	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:190944170G>A	uc002ury.2	+	c.997G>A	c.(997-999)GAC>AAC	p.D333N	INPP1_uc010fsb.1_Missense_Mutation_p.D333N|INPP1_uc002urx.2_Missense_Mutation_p.D333N	NM_001128928	NP_001122400	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	333					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			ovary(1)|lung(1)	2					Lithium(DB01356)	Melanoma(130;184 1743 2185 19805 38428)								0.363636	129.555848	131.71852	48	84	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Missense_Mutation	SNP	190944170	190944170	8052	2	G	A	A	33	33	INPP1	A	2	2
MFSD6	54842	broad.mit.edu	36	2	191061747	191061747	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191061747G>T	uc002urz.2	+	c.1750G>T	c.(1750-1752)GGA>TGA	p.G584*		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	584	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(2)	2														0.301961	191.708666	200.62204	77	178	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	191061747	191061747	9925	2	G	T	T	35	35	MFSD6	T	5	3
NAB1	4664	broad.mit.edu	36	2	191232155	191232155	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191232155C>T	uc002usb.1	+	c.8C>T	c.(7-9)GCG>GTG	p.A3V	NAB1_uc010fsc.1_Missense_Mutation_p.A3V|NAB1_uc010fsd.1_Missense_Mutation_p.A3V|NAB1_uc002usc.1_Missense_Mutation_p.A3V	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription repressor activity				0														0.285714	39.05362	41.633393	18	45	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		Missense_Mutation	SNP	191232155	191232155	10526	2	C	T	T	27	27	NAB1	T	1	1
GLS	2744	broad.mit.edu	36	2	191468192	191468192	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191468192G>T	uc002usf.2	+	c.456G>T	c.(454-456)GAG>GAT	p.E152D	GLS_uc002use.2_Missense_Mutation_p.E152D|GLS_uc002usd.2_Missense_Mutation_p.E152D	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase	152					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)	1					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.248322	78.387652	86.986499	37	112	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		Missense_Mutation	SNP	191468192	191468192	6731	2	G	T	T	33	33	GLS	T	3	3
GLS	2744	broad.mit.edu	36	2	191526594	191526594	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191526594G>A	uc002usf.2	+	c.1709G>A	c.(1708-1710)CGA>CAA	p.R570Q	GLS_uc002ush.2_Missense_Mutation_p.R231Q	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase	570					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)	1					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.27957	253.001868	269.285758	104	268	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		Missense_Mutation	SNP	191526594	191526594	6731	2	G	A	A	37	37	GLS	A	1	1
STAT4	6775	broad.mit.edu	36	2	191603985	191603985	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191603985C>T	uc002usm.1	-	c.2178G>A	c.(2176-2178)GCG>GCA	p.A726A	STAT4_uc002usn.1_Silent_p.A726A	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	726					JAK-STAT cascade|regulation of transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(2)|ovary(1)|pancreas(1)	4														0.293651	206.747216	216.3537	74	178	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		Silent	SNP	191603985	191603985	15787	2	C	T	T	23	23	STAT4	T	1	1
STAT4	6775	broad.mit.edu	36	2	191614117	191614117	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191614117G>T	uc002usm.1	-	c.1254C>A	c.(1252-1254)GGC>GGA	p.G418G	STAT4_uc002usn.1_Silent_p.G418G|STAT4_uc002uso.1_Silent_p.G34G	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	418					JAK-STAT cascade|regulation of transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(2)|ovary(1)|pancreas(1)	4														0.324324	159.925306	164.998304	60	125	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		Silent	SNP	191614117	191614117	15787	2	G	T	T	34	34	STAT4	T	3	3
STAT4	6775	broad.mit.edu	36	2	191634776	191634776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191634776G>A	uc002usm.1	-	c.958C>T	c.(958-960)CGA>TGA	p.R320*	STAT4_uc002usn.1_Nonsense_Mutation_p.R320*	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	320					JAK-STAT cascade|regulation of transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(2)|ovary(1)|pancreas(1)	4														0.26652	274.170641	296.532503	121	333	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		Nonsense_Mutation	SNP	191634776	191634776	15787	2	G	A	A	38	38	STAT4	A	5	1
MYO1B	4430	broad.mit.edu	36	2	191936813	191936813	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191936813G>A	uc010fsg.1	+	c.880G>A	c.(880-882)GGT>AGT	p.G294S	MYO1B_uc002usq.1_Missense_Mutation_p.G294S|MYO1B_uc002usr.1_Missense_Mutation_p.G294S|MYO1B_uc002uss.1_Missense_Mutation_p.G294S	NM_012223	NP_036355	O43795	MYO1B_HUMAN	myosin IB isoform 2	294	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8														0.294118	179.680443	188.068482	65	156	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		Missense_Mutation	SNP	191936813	191936813	10464	2	G	A	A	47	47	MYO1B	A	2	2
MYO1B	4430	broad.mit.edu	36	2	191956262	191956262	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191956262G>A	uc010fsg.1	+	c.1302G>A	c.(1300-1302)TGG>TGA	p.W434*	MYO1B_uc002usq.1_Nonsense_Mutation_p.W434*|MYO1B_uc002usr.1_Nonsense_Mutation_p.W434*|MYO1B_uc002ust.1_Nonsense_Mutation_p.W72*	NM_012223	NP_036355	O43795	MYO1B_HUMAN	myosin IB isoform 2	434	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8														0.191489	18.24556	22.427139	9	38	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		Nonsense_Mutation	SNP	191956262	191956262	10464	2	G	A	A	41	41	MYO1B	A	5	2
MYO1B	4430	broad.mit.edu	36	2	191965091	191965091	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191965091G>T	uc010fsg.1	+	c.1995G>T	c.(1993-1995)GAG>GAT	p.E665D	MYO1B_uc002usq.1_Missense_Mutation_p.E665D|MYO1B_uc002usr.1_Missense_Mutation_p.E665D|MYO1B_uc002usu.1_De_novo_Start_OutOfFrame	NM_012223	NP_036355	O43795	MYO1B_HUMAN	myosin IB isoform 2	665	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8														0.300613	116.101959	121.89713	49	114	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		Missense_Mutation	SNP	191965091	191965091	10464	2	G	T	T	35	35	MYO1B	T	3	3
SDPR	8436	broad.mit.edu	36	2	192408949	192408949	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:192408949C>T	uc002utb.1	-	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	408						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2					Phosphatidylserine(DB00144)									0.510638	186.472869	186.486626	72	69	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Missense_Mutation	SNP	192408949	192408949	14456	2	C	T	T	27	27	SDPR	T	1	1
SDPR	8436	broad.mit.edu	36	2	192419755	192419755	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:192419755G>A	uc002utb.1	-	c.142C>T	c.(142-144)CGG>TGG	p.R48W		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	48						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2					Phosphatidylserine(DB00144)									0.558659	303.610083	304.146525	100	79	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Missense_Mutation	SNP	192419755	192419755	14456	2	G	A	A	39	39	SDPR	A	1	1
TMEFF2	23671	broad.mit.edu	36	2	192764946	192764946	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:192764946C>A	uc002utc.1	-	c.187G>T	c.(187-189)GAA>TAA	p.E63*	TMEFF2_uc002utd.1_Nonsense_Mutation_p.E63*	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	63	Extracellular (Potential).			E -> G (in Ref. 6; BAC11030).		extracellular region|integral to membrane				pancreas(1)	1						Pancreas(50;1277 1381 28487 47072)								0.26087	54.550255	59.318191	24	68	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		Nonsense_Mutation	SNP	192764946	192764946	16544	2	C	A	A	32	32	TMEFF2	A	5	3
OSR1	130497	broad.mit.edu	36	2	19416529	19416529	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:19416529C>A	uc002rdc.1	-	c.519G>T	c.(517-519)AAG>AAT	p.K173N		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	173					heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of gene expression|pronephros development|regulation of transcription, DNA-dependent|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)								40				0.342657	120.33284	123.459722	49	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19416529	19416529	11704	2	C	A	A	24	24	OSR1	A	3	3
SLC39A10	57181	broad.mit.edu	36	2	196253885	196253885	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196253885C>T	uc002utg.2	+	c.874C>T	c.(874-876)CGT>TGT	p.R292C	SLC39A10_uc002uth.2_Missense_Mutation_p.R292C	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	292					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)	1														0.226087	54.686311	62.614713	26	89	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.221)		Missense_Mutation	SNP	196253885	196253885	15110	2	C	T	T	31	31	SLC39A10	T	1	1
DNAH7	56171	broad.mit.edu	36	2	196313824	196313824	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196313824C>A	uc002utj.2	-	c.11779G>T	c.(11779-11781)GGA>TGA	p.G3927*	DNAH7_uc002uti.2_Nonsense_Mutation_p.G410*	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3927					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.263415	146.066843	156.436487	54	151	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	196313824	196313824	4789	2	C	A	A	23	23	DNAH7	A	5	3
DNAH7	56171	broad.mit.edu	36	2	196390799	196390799	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196390799C>A	uc002utj.2	-	c.9292_splice	c.e50-1	p.V3098_splice		NM_018897	NP_061720			dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.574468	77.324142	77.550227	27	20	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	196390799	196390799	4789	2	C	A	A	24	24	DNAH7	A	5	3
DNAH7	56171	broad.mit.edu	36	2	196437328	196437328	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196437328C>A	uc002utj.2	-	c.7296G>T	c.(7294-7296)GAG>GAT	p.E2432D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2432	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.224806	58.695472	67.683445	29	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	196437328	196437328	4789	2	C	A	A	32	32	DNAH7	A	3	3
DNAH7	56171	broad.mit.edu	36	2	196446654	196446654	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196446654C>T	uc002utj.2	-	c.6296G>A	c.(6295-6297)CGA>CAA	p.R2099Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2099	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.192661	39.83637	49.433979	21	88	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	196446654	196446654	4789	2	C	T	T	31	31	DNAH7	T	1	1
DNAH7	56171	broad.mit.edu	36	2	196459209	196459209	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196459209G>T	uc002utj.2	-	c.5439C>A	c.(5437-5439)GTC>GTA	p.V1813V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1813					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.243243	77.014131	85.919077	36	112	GG		KEEP	---	---	---	---	capture			Silent	SNP	196459209	196459209	4789	2	G	T	T	41	41	DNAH7	T	3	3
DNAH7	56171	broad.mit.edu	36	2	196620355	196620355	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196620355C>A	uc002utj.2	-	c.364G>T	c.(364-366)GAA>TAA	p.E122*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	122	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.352941	225.946026	230.820838	90	165	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	196620355	196620355	4789	2	C	A	A	32	32	DNAH7	A	5	3
STK17B	9262	broad.mit.edu	36	2	196710540	196710540	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196710540C>T	uc002utk.1	-	c.995G>A	c.(994-996)GGA>GAA	p.G332E	STK17B_uc010fsh.1_Missense_Mutation_p.G332E	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17b	332					apoptosis|induction of apoptosis|intracellular protein kinase cascade|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2										94				0.264368	110.76199	119.502609	46	128	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.141)		Missense_Mutation	SNP	196710540	196710540	15811	2	C	T	T	30	30	STK17B	T	2	2
HECW2	57520	broad.mit.edu	36	2	196793083	196793083	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196793083C>T	uc002utm.1	-	c.4333G>A	c.(4333-4335)GAA>AAA	p.E1445K	HECW2_uc002utl.1_Missense_Mutation_p.E1089K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1445	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.528846	175.742667	175.819495	55	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	196793083	196793083	7326	2	C	T	T	32	32	HECW2	T	2	2
GTF3C3	9330	broad.mit.edu	36	2	197337626	197337626	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:197337626C>T	uc002uts.1	-	c.2567G>A	c.(2566-2568)CGA>CAA	p.R856Q		NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	856					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7														0.49375	230.045514	230.05026	79	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	197337626	197337626	7154	2	C	T	T	31	31	GTF3C3	T	1	1
PGAP1	80055	broad.mit.edu	36	2	197414329	197414329	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:197414329C>A	uc002utw.1	-	c.2643G>T	c.(2641-2643)AAG>AAT	p.K881N	PGAP1_uc010fsi.1_Missense_Mutation_p.K120N|PGAP1_uc002utx.1_Missense_Mutation_p.K707N	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	881	Cytoplasmic (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4														0.310345	65.985171	68.777195	27	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	197414329	197414329	12200	2	C	A	A	32	32	PGAP1	A	3	3
PGAP1	80055	broad.mit.edu	36	2	197463807	197463807	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:197463807C>T	uc002utw.1	-	c.1163G>A	c.(1162-1164)AGC>AAC	p.S388N	PGAP1_uc002utx.1_Missense_Mutation_p.S214N|PGAP1_uc002uty.1_Missense_Mutation_p.S388N|PGAP1_uc010fsj.1_3'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	388	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4														0.552941	143.827506	144.03415	47	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	197463807	197463807	12200	2	C	T	T	28	28	PGAP1	T	2	2
ANKRD44	91526	broad.mit.edu	36	2	197568415	197568415	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:197568415C>T	uc002uua.1	-	c.2689G>A	c.(2689-2691)GCC>ACC	p.A897T	ANKRD44_uc002utz.2_Missense_Mutation_p.A629T	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	922	ANK 27.						protein binding			ovary(4)|skin(1)	5														0.206612	46.395364	56.063195	25	96	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.246)		Missense_Mutation	SNP	197568415	197568415	680	2	C	T	T	25	25	ANKRD44	T	2	2
SF3B1	23451	broad.mit.edu	36	2	197973818	197973818	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:197973818C>T	uc002uue.1	-	c.2584G>A	c.(2584-2586)GAA>AAA	p.E862K		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	862	HEAT 7.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6														0.242424	89.845642	99.81063	40	125	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.246)		Missense_Mutation	SNP	197973818	197973818	14638	2	C	T	T	31	31	SF3B1	T	1	1
HSPD1	3329	broad.mit.edu	36	2	198062186	198062186	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:198062186G>T	uc002uui.1	-	c.1000C>A	c.(1000-1002)CTT>ATT	p.L334I	HSPD1_uc002uuj.1_Missense_Mutation_p.L332I|HSPD1_uc010fsm.1_Missense_Mutation_p.L145I|HSPD1_uc002uuk.1_Missense_Mutation_p.L334I	NM_002156	NP_955472	P10809	CH60_HUMAN	chaperonin	334					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding|unfolded protein binding				0														0.555556	168.893997	169.182228	60	48	GG		KEEP	---	---	---	---	capture	Epithelial(96;0.225)		Missense_Mutation	SNP	198062186	198062186	7728	2	G	T	T	33	33	HSPD1	T	3	3
RFTN2	130132	broad.mit.edu	36	2	198188895	198188895	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:198188895G>A	uc002uuo.2	-	c.1104C>T	c.(1102-1104)TTC>TTT	p.F368F		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	368						plasma membrane					0														0.6	18.251095	18.338381	6	4	GG		KEEP	---	---	---	---	capture			Silent	SNP	198188895	198188895	13731	2	G	A	A	37	37	RFTN2	A	1	1
RFTN2	130132	broad.mit.edu	36	2	198219597	198219597	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:198219597G>T	uc002uuo.2	-	c.178C>A	c.(178-180)CTG>ATG	p.L60M		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	60						plasma membrane					0														0.47619	135.729814	135.782343	50	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	198219597	198219597	13731	2	G	T	T	33	33	RFTN2	T	3	3
PLCL1	5334	broad.mit.edu	36	2	198658224	198658224	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:198658224C>A	uc010fsp.1	+	c.1738C>A	c.(1738-1740)CGA>AGA	p.R580R	PLCL1_uc002uuv.2_Silent_p.R501R|PLCL1_uc002uuw.2_Silent_p.R482R	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	phospholipase C-like 1 isoform a	580					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.213018	83.318255	96.171098	36	133	CC		KEEP	---	---	---	---	capture			Silent	SNP	198658224	198658224	12465	2	C	A	A	23	23	PLCL1	A	3	3
WDR35	57539	broad.mit.edu	36	2	20009059	20009059	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:20009059C>A	uc002rdi.1	-	c.1847G>T	c.(1846-1848)AGA>ATA	p.R616I	WDR35_uc002rdh.1_Missense_Mutation_p.R181I|WDR35_uc002rdj.1_Missense_Mutation_p.R605I|WDR35_uc010ext.1_Non-coding_Transcript|WDR35_uc002rdk.2_Missense_Mutation_p.R181I	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	616										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.222488	187.720326	217.364941	93	325	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20009059	20009059	17862	2	C	A	A	32	32	WDR35	A	3	3
C2orf69	205327	broad.mit.edu	36	2	200498051	200498051	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:200498051C>T	uc002uvh.1	+	c.7C>T	c.(7-9)CGT>TGT	p.R3C		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327	119						extracellular region				central_nervous_system(1)	1														0.230769	26.671982	30.127345	12	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200498051	200498051	2276	2	C	T	T	31	31	C2orf69	T	1	1
MATN3	4148	broad.mit.edu	36	2	20065201	20065201	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:20065201A>G	uc002rdl.1	-	c.1038T>C	c.(1036-1038)TGT>TGC	p.C346C	MATN3_uc010exu.1_Silent_p.C304C	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	346	EGF-like 2.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.206522	50.780736	58.119271	19	73	AA		KEEP	---	---	---	---	capture			Silent	SNP	20065201	20065201	9719	2	A	G	G	2	2	MATN3	G	4	4
SGOL2	151246	broad.mit.edu	36	2	201109106	201109106	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201109106C>A	uc002uvw.1	+	c.383C>A	c.(382-384)TCT>TAT	p.S128Y	SGOL2_uc002uvv.2_Missense_Mutation_p.S128Y	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2	128					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)	2														0.314607	139.821942	145.273109	56	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	201109106	201109106	14708	2	C	A	A	32	32	SGOL2	A	3	3
SGOL2	151246	broad.mit.edu	36	2	201144306	201144306	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201144306G>T	uc002uvw.1	+	c.992G>T	c.(991-993)GGC>GTC	p.G331V		NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2	331					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)	2														0.409836	70.963539	71.396617	25	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	201144306	201144306	14708	2	G	T	T	42	42	SGOL2	T	3	3
AOX1	316	broad.mit.edu	36	2	201186843	201186843	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201186843C>T	uc002uvx.1	+	c.1520C>T	c.(1519-1521)GCG>GTG	p.A507V	AOX1_uc010fsu.1_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	507					inflammatory response|oxidation-reduction process|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)	5					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)									0.224299	49.441331	56.920467	24	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	201186843	201186843	739	2	C	T	T	27	27	AOX1	T	1	1
CASP10	843	broad.mit.edu	36	2	201782099	201782099	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201782099G>A	uc002uxj.1	+	c.984G>A	c.(982-984)ACG>ACA	p.T328T	CASP10_uc002uxk.1_Silent_p.T285T|CASP10_uc010fta.1_Silent_p.T261T|CASP10_uc002uxl.1_Silent_p.T328T|CASP10_uc002uxm.1_Silent_p.T285T|CASP10_uc010ftb.1_Non-coding_Transcript	NM_032977	NP_116759	Q92851	CASPA_HUMAN	caspase 10 isoform d preproprotein	328					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)	5										219				0.560811	241.037881	241.516753	83	65	GG		KEEP	---	---	---	---	capture			Silent	SNP	201782099	201782099	2788	2	G	A	A	37	37	CASP10	A	1	1
CASP8	841	broad.mit.edu	36	2	201831250	201831250	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201831250C>T	uc002uxt.1	+	c.51C>T	c.(49-51)TTC>TTT	p.F17F	CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxr.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxw.1_5'Flank|CASP8_uc010ftc.1_Intron|CASP8_uc002uxs.1_5'UTR|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Intron	NM_001080125	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform G precursor	Error:Variant_position_missing_in_Q14790_after_alignment					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(1)|skin(1)	2						Melanoma(82;831 1348 20716 36952 40159)				239				0.25	233.323473	254.93323	95	285	CC		KEEP	---	---	---	---	capture			Silent	SNP	201831250	201831250	2796	2	C	T	T	32	32	CASP8	T	2	2
ALS2CR12	130540	broad.mit.edu	36	2	201882123	201882123	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201882123C>T	uc010ftg.1	-	c.771G>A	c.(769-771)CAG>CAA	p.Q257Q	ALS2CR12_uc002uya.2_Silent_p.Q257Q|ALS2CR12_uc010fth.1_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	257					regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3														0.281525	234.83517	249.476409	96	245	CC		KEEP	---	---	---	---	capture			Silent	SNP	201882123	201882123	556	2	C	T	T	28	28	ALS2CR12	T	2	2
TRAK2	66008	broad.mit.edu	36	2	201965884	201965884	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201965884A>C	uc002uyb.2	-	c.1106T>G	c.(1105-1107)TTT>TGT	p.F369C		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	369	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0														0.28169	58.97158	62.01097	20	51	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	201965884	201965884	16994	2	A	C	C	1	1	TRAK2	C	4	4
TRAK2	66008	broad.mit.edu	36	2	201972441	201972441	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201972441G>A	uc002uyb.2	-	c.384C>T	c.(382-384)CTC>CTT	p.L128L	TRAK2_uc002uyc.2_Silent_p.L128L	NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	128						early endosome|plasma membrane	GABA receptor binding				0														0.236025	85.263565	95.525802	38	123	GG		KEEP	---	---	---	---	capture			Silent	SNP	201972441	201972441	16994	2	G	A	A	37	37	TRAK2	A	1	1
ALS2CR11	151254	broad.mit.edu	36	2	202109236	202109236	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:202109236G>A	uc002uyf.1	-	c.1259C>T	c.(1258-1260)TCG>TTG	p.S420L	ALS2CR11_uc002uye.1_Missense_Mutation_p.S420L|ALS2CR11_uc010fti.1_Intron	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	420										large_intestine(1)|ovary(1)	2														0.528497	297.833694	297.968421	102	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	202109236	202109236	555	2	G	A	A	37	37	ALS2CR11	A	1	1
ALS2CR4	65062	broad.mit.edu	36	2	202206326	202206326	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:202206326C>T	uc002uyh.1	-	c.348G>A	c.(346-348)GCG>GCA	p.A116A	ALS2CR4_uc002uyg.1_Silent_p.A108A	NM_001044385	NP_001037850	Q96Q45	AL2S4_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	140						integral to membrane	protein binding				0														0.304348	18.116013	18.901793	7	16	CC		KEEP	---	---	---	---	capture			Silent	SNP	202206326	202206326	557	2	C	T	T	23	23	ALS2CR4	T	1	1
MPP4	58538	broad.mit.edu	36	2	202218195	202218195	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:202218195C>T	uc002uyk.2	-	c.1897G>A	c.(1897-1899)GAT>AAT	p.D633N	MPP4_uc010ftj.1_Missense_Mutation_p.D626N|MPP4_uc002uyj.2_Missense_Mutation_p.D598N|MPP4_uc002uyl.2_Non-coding_Transcript|MPP4_uc010ftk.1_Missense_Mutation_p.D589N|ALS2CR4_uc002uyg.1_5'Flank|ALS2CR4_uc002uyh.1_5'Flank|MPP4_uc002uyi.2_Missense_Mutation_p.D251N	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	633						cytoplasm	protein binding				0														0.583333	126.854011	127.289105	42	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	202218195	202218195	10128	2	C	T	T	32	32	MPP4	T	2	2
MPP4	58538	broad.mit.edu	36	2	202220665	202220665	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:202220665C>A	uc002uyk.2	-	c.1713G>T	c.(1711-1713)AAG>AAT	p.K571N	MPP4_uc010ftj.1_Missense_Mutation_p.K564N|MPP4_uc002uyj.2_Missense_Mutation_p.K536N|MPP4_uc002uyl.2_Non-coding_Transcript|MPP4_uc010ftk.1_Missense_Mutation_p.K527N|MPP4_uc002uyi.2_Missense_Mutation_p.K189N	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	571	Guanylate kinase-like.|Potential.					cytoplasm	protein binding				0														0.244444	80.40639	88.44104	33	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	202220665	202220665	10128	2	C	A	A	20	20	MPP4	A	3	3
MPP4	58538	broad.mit.edu	36	2	202220757	202220757	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:202220757A>G	uc002uyk.2	-	c.1621T>C	c.(1621-1623)TAT>CAT	p.Y541H	MPP4_uc010ftj.1_Missense_Mutation_p.Y534H|MPP4_uc002uyj.2_Missense_Mutation_p.Y506H|MPP4_uc002uyl.2_Non-coding_Transcript|MPP4_uc010ftk.1_Missense_Mutation_p.Y497H|MPP4_uc002uyi.2_Missense_Mutation_p.Y159H	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	541	Guanylate kinase-like.					cytoplasm	protein binding				0														0.245614	42.022869	45.380647	14	43	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	202220757	202220757	10128	2	A	G	G	15	15	MPP4	G	4	4
ALS2	57679	broad.mit.edu	36	2	202279898	202279898	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:202279898C>T	uc002uyo.1	-	c.4496G>A	c.(4495-4497)CGC>CAC	p.R1499H	ALS2_uc010ftl.1_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1499					cell death|endosome organization|positive regulation of Rac GTPase activity|positive regulation of Rac protein signal transduction|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(4)|lung(1)|breast(1)	6										498				0.583942	234.706556	235.547862	80	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	202279898	202279898	553	2	C	T	T	27	27	ALS2	T	1	1
NOP58	51602	broad.mit.edu	36	2	202857373	202857373	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:202857373C>T	uc002uzb.1	+	c.358C>T	c.(358-360)CGT>TGT	p.R120C		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	120					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0														0.324324	94.958778	98.000629	36	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	202857373	202857373	10943	2	C	T	T	31	31	NOP58	T	1	1
BMPR2	659	broad.mit.edu	36	2	203091908	203091908	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:203091908A>G	uc002uzf.2	+	c.740A>G	c.(739-741)TAC>TGC	p.Y247C	BMPR2_uc010ftr.1_Missense_Mutation_p.Y247C	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	247	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|large_intestine(1)|stomach(1)|pancreas(1)	7										409				0.30916	253.98045	262.483164	81	181	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	203091908	203091908	1496	2	A	G	G	14	14	BMPR2	G	4	4
PUM2	23369	broad.mit.edu	36	2	20319328	20319328	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:20319328C>T	uc002rds.1	-	c.2569G>A	c.(2569-2571)GAA>AAA	p.E857K	PUM2_uc002rdq.1_Missense_Mutation_p.E236K|PUM2_uc002rdr.1_Missense_Mutation_p.E717K|PUM2_uc002rdt.1_Missense_Mutation_p.E857K|PUM2_uc002rdu.1_Missense_Mutation_p.E857K	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	859	PUM-HD.|Pumilio 4.				regulation of translation	perinuclear region of cytoplasm	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.261261	135.049068	146.502266	58	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20319328	20319328	13284	2	C	T	T	31	31	PUM2	T	1	1
PUM2	23369	broad.mit.edu	36	2	20323644	20323644	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:20323644G>T	uc002rds.1	-	c.2290C>A	c.(2290-2292)CTG>ATG	p.L764M	PUM2_uc002rdq.1_Missense_Mutation_p.L141M|PUM2_uc002rdr.1_Missense_Mutation_p.L624M|PUM2_uc002rdt.1_Missense_Mutation_p.L764M|PUM2_uc002rdu.1_Missense_Mutation_p.L764M	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	764	PUM-HD.|Pumilio 2.				regulation of translation	perinuclear region of cytoplasm	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.550562	276.541015	276.934506	98	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20323644	20323644	13284	2	G	T	T	33	33	PUM2	T	3	3
ICA1L	130026	broad.mit.edu	36	2	203392830	203392830	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:203392830C>T	uc002uzh.1	-	c.397G>A	c.(397-399)GAA>AAA	p.E133K	ICA1L_uc002uzi.1_Missense_Mutation_p.E133K|ICA1L_uc010fts.1_Non-coding_Transcript|ICA1L_uc002uzj.2_Missense_Mutation_p.E133K	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	133	AH.										0														0.29703	82.706216	86.429408	30	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	203392830	203392830	7778	2	C	T	T	32	32	ICA1L	T	2	2
ALS2CR8	79800	broad.mit.edu	36	2	203543021	203543021	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:203543021G>A	uc002uzo.2	+	c.1088G>A	c.(1087-1089)GGT>GAT	p.G363D	ALS2CR8_uc002uzp.2_Missense_Mutation_p.G363D|ALS2CR8_uc010ftu.1_Non-coding_Transcript	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	363										large_intestine(1)|ovary(1)	2														0.587302	217.054135	217.889759	74	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	203543021	203543021	558	2	G	A	A	44	44	ALS2CR8	A	2	2
ALS2CR8	79800	broad.mit.edu	36	2	203555292	203555292	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:203555292C>T	uc002uzo.2	+	c.1942C>T	c.(1942-1944)CTG>TTG	p.L648L	ALS2CR8_uc002uzp.2_Silent_p.L648L	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	648										large_intestine(1)|ovary(1)	2														0.595041	216.40823	217.360797	72	49	CC		KEEP	---	---	---	---	capture			Silent	SNP	203555292	203555292	558	2	C	T	T	28	28	ALS2CR8	T	2	2
NBEAL1	65065	broad.mit.edu	36	2	203782183	203782183	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:203782183C>T	uc002uzt.2	+	c.3721C>T	c.(3721-3723)CGA>TGA	p.R1241*	NBEAL1_uc002uzs.2_Nonsense_Mutation_p.R1172*|NBEAL1_uc002uzu.2_Nonsense_Mutation_p.R26*	NM_001099273	NP_001092743	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 1	2531	WD 2.						binding			ovary(1)	1														0.35	163.274922	166.846039	63	117	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	203782183	203782183	10584	2	C	T	T	19	19	NBEAL1	T	5	1
CYP20A1	57404	broad.mit.edu	36	2	203862764	203862764	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:203862764C>T	uc002uzv.2	+	c.1003C>T	c.(1003-1005)CGA>TGA	p.R335*	CYP20A1_uc002uzx.2_Nonsense_Mutation_p.R233*|CYP20A1_uc002uzw.2_Non-coding_Transcript|CYP20A1_uc002uzy.2_Nonsense_Mutation_p.R233*|CYP20A1_uc010ftw.1_Nonsense_Mutation_p.R65*	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	335					oxidation-reduction process	integral to membrane	electron carrier activity|heme binding|monooxygenase activity				0														0.204819	70.149224	83.576033	34	132	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	203862764	203862764	4317	2	C	T	T	31	31	CYP20A1	T	5	1
ABI2	10152	broad.mit.edu	36	2	203975682	203975682	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:203975682C>A	uc002vaa.1	+	c.1172C>A	c.(1171-1173)CCT>CAT	p.P391H	ABI2_uc002uzz.1_Missense_Mutation_p.P324H|ABI2_uc002vab.1_Missense_Mutation_p.P279H|ABI2_uc002vac.1_Missense_Mutation_p.P177H	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	391	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0														0.26	88.853318	96.680338	39	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	203975682	203975682	90	2	C	A	A	24	24	ABI2	A	3	3
RAPH1	65059	broad.mit.edu	36	2	204034880	204034880	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:204034880G>A	uc002vad.1	-	c.746C>T	c.(745-747)GCA>GTA	p.A249V	RAPH1_uc002vae.1_Missense_Mutation_p.A301V|RAPH1_uc002vaf.1_Missense_Mutation_p.A301V	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	249					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(2)|central_nervous_system(2)	7														0.571429	171.997169	172.461861	60	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	204034880	204034880	13510	2	G	A	A	46	46	RAPH1	A	2	2
PARD3B	117583	broad.mit.edu	36	2	205874617	205874617	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:205874617G>A	uc002var.1	+	c.2577G>A	c.(2575-2577)GAG>GAA	p.E859E	PARD3B_uc010fub.1_Silent_p.E859E|PARD3B_uc002vao.1_Silent_p.E859E|PARD3B_uc002vap.1_Silent_p.E797E|PARD3B_uc002vaq.1_Silent_p.E790E	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	859	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				ovary(1)|breast(1)	2		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)												0.638889	148.362979	149.583618	46	26	GG		KEEP	---	---	---	---	capture		Epithelial(149;0.0739)	Silent	SNP	205874617	205874617	11861	2	G	A	A	33	33	PARD3B	A	2	2
NRP2	8828	broad.mit.edu	36	2	206289181	206289181	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206289181C>T	uc002vaw.1	+	c.271C>T	c.(271-273)CGG>TGG	p.R91W	NRP2_uc002vat.1_Missense_Mutation_p.R91W|NRP2_uc002vau.1_Missense_Mutation_p.R91W|NRP2_uc002vav.1_Missense_Mutation_p.R91W|NRP2_uc002vax.1_Missense_Mutation_p.R91W|NRP2_uc002vay.1_Missense_Mutation_p.R91W|NRP2_uc010fud.1_Missense_Mutation_p.R91W	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	91	Extracellular (Potential).|CUB 1.				axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			ovary(1)|central_nervous_system(1)	2														0.314286	222.953335	231.518426	88	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	206289181	206289181	11066	2	C	T	T	31	31	NRP2	T	1	1
NRP2	8828	broad.mit.edu	36	2	206318720	206318720	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206318720C>T	uc002vaw.1	+	c.1647C>T	c.(1645-1647)TTC>TTT	p.F549F	NRP2_uc002vau.1_Silent_p.F549F|NRP2_uc002vav.1_Silent_p.F549F|NRP2_uc002vax.1_Silent_p.F549F|NRP2_uc002vay.1_Silent_p.F549F	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	549	Extracellular (Potential).|F5/8 type C 2.				axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			ovary(1)|central_nervous_system(1)	2														0.333333	70.196077	72.189689	27	54	CC		KEEP	---	---	---	---	capture			Silent	SNP	206318720	206318720	11066	2	C	T	T	31	31	NRP2	T	1	1
INO80D	54891	broad.mit.edu	36	2	206629563	206629563	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206629563G>A	uc002vaz.2	-	c.568C>T	c.(568-570)CGA>TGA	p.R190*		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	190										ovary(1)	1														0.416667	27.446687	27.59181	10	14	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	206629563	206629563	8050	2	G	A	A	37	37	INO80D	A	5	1
ZDBF2	57683	broad.mit.edu	36	2	206878820	206878820	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206878820G>A	uc002vbp.2	+	c.1323G>A	c.(1321-1323)AAG>AAA	p.K441K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	441							nucleic acid binding|zinc ion binding			ovary(3)	3														0.258929	69.216748	75.117827	29	83	GG		KEEP	---	---	---	---	capture			Silent	SNP	206878820	206878820	18187	2	G	A	A	33	33	ZDBF2	A	2	2
ZDBF2	57683	broad.mit.edu	36	2	206881517	206881517	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206881517G>T	uc002vbp.2	+	c.4020G>T	c.(4018-4020)GTG>GTT	p.V1340V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1340							nucleic acid binding|zinc ion binding			ovary(3)	3														0.269565	73.366728	78.882209	31	84	GG		KEEP	---	---	---	---	capture			Silent	SNP	206881517	206881517	18187	2	G	T	T	45	45	ZDBF2	T	3	3
ZDBF2	57683	broad.mit.edu	36	2	206883662	206883662	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206883662C>A	uc002vbp.2	+	c.6165C>A	c.(6163-6165)CCC>CCA	p.P2055P		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2055							nucleic acid binding|zinc ion binding			ovary(3)	3														0.129032	9.25518	17.567641	8	54	CC		KEEP	---	---	---	---	capture			Silent	SNP	206883662	206883662	18187	2	C	A	A	24	24	ZDBF2	A	3	3
ZDBF2	57683	broad.mit.edu	36	2	206884441	206884441	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206884441G>A	uc002vbp.2	+	c.6944G>A	c.(6943-6945)CGA>CAA	p.R2315Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2315							nucleic acid binding|zinc ion binding			ovary(3)	3														0.386364	45.862139	46.360918	17	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	206884441	206884441	18187	2	G	A	A	37	37	ZDBF2	A	1	1
ADAM23	8745	broad.mit.edu	36	2	207167864	207167864	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:207167864C>T	uc002vbq.1	+	c.2237C>T	c.(2236-2238)TCG>TTG	p.S746L		NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	746	EGF-like.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|skin(1)	2						Melanoma(194;1127 2130 19620 24042 27855)								0.240741	57.595187	64.221582	26	82	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	Missense_Mutation	SNP	207167864	207167864	246	2	C	T	T	31	31	ADAM23	T	1	1
ADAM23	8745	broad.mit.edu	36	2	207190569	207190569	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:207190569C>T	uc002vbq.1	+	c.2472C>T	c.(2470-2472)TTC>TTT	p.F824F		NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	824	Cytoplasmic (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|skin(1)	2						Melanoma(194;1127 2130 19620 24042 27855)								0.284211	66.086124	70.057918	27	68	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	Silent	SNP	207190569	207190569	246	2	C	T	T	31	31	ADAM23	T	1	1
DYTN	391475	broad.mit.edu	36	2	207277849	207277849	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:207277849C>T	uc002vbr.1	-	c.446G>A	c.(445-447)CGA>CAA	p.R149Q		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	149						plasma membrane	zinc ion binding			ovary(1)	1														0.522727	67.423144	67.442749	23	21	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	Missense_Mutation	SNP	207277849	207277849	5047	2	C	T	T	31	31	DYTN	T	1	1
GDF7	151449	broad.mit.edu	36	2	20734147	20734147	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:20734147G>T	uc002rdz.1	+	c.834G>T	c.(832-834)GAG>GAT	p.E278D		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	278					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.368421	16.211266	16.503554	7	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20734147	20734147	6586	2	G	T	T	33	33	GDF7	T	3	3
CPO	130749	broad.mit.edu	36	2	207522588	207522588	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:207522588C>T	uc002vby.1	+	c.71C>T	c.(70-72)TCC>TTC	p.S24F		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	24					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.326667	127.31566	131.317274	49	101	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	Missense_Mutation	SNP	207522588	207522588	3958	2	C	T	T	30	30	CPO	T	2	2
CPO	130749	broad.mit.edu	36	2	207531319	207531319	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:207531319G>A	uc002vby.1	+	c.317G>A	c.(316-318)GGA>GAA	p.G106E		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	106					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.516484	556.280686	556.365514	188	176	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	Missense_Mutation	SNP	207531319	207531319	3958	2	G	A	A	41	41	CPO	A	2	2
CCNYL1	151195	broad.mit.edu	36	2	208323948	208323948	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:208323948C>A	uc002vch.1	+	c.619C>A	c.(619-621)CTG>ATG	p.L207M	CCNYL1_uc002vci.1_Missense_Mutation_p.L226M	NM_152523	NP_689736	Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1 isoform 2	277											0														0.308411	79.226368	82.732123	33	74	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	Missense_Mutation	SNP	208323948	208323948	3064	2	C	A	A	32	32	CCNYL1	A	3	3
CRYGB	1419	broad.mit.edu	36	2	208715859	208715859	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:208715859C>A	uc002vcp.2	-	c.276G>T	c.(274-276)AAG>AAT	p.K92N		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	92	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens				0														0.546713	451.535863	452.08051	158	131	CC		KEEP	---	---	---	---	capture		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	Missense_Mutation	SNP	208715859	208715859	4054	2	C	A	A	32	32	CRYGB	A	3	3
CRYGA	1418	broad.mit.edu	36	2	208733806	208733806	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:208733806G>A	uc002vcq.2	-	c.492C>T	c.(490-492)GTC>GTT	p.V164V		NM_014617	NP_055432	P11844	CRGA_HUMAN	crystallin, gamma A	164	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens				0														0.277551	161.928872	172.818799	68	177	GG		KEEP	---	---	---	---	capture		Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	Silent	SNP	208733806	208733806	4053	2	G	A	A	37	37	CRYGA	A	1	1
PIKFYVE	200576	broad.mit.edu	36	2	208897894	208897894	+	Silent	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:208897894A>T	uc002vcz.1	+	c.2346A>T	c.(2344-2346)CGA>CGT	p.R782R	PIKFYVE_uc010fun.1_Silent_p.R463R|PIKFYVE_uc002vcy.1_Silent_p.R726R	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	782					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.322222	142.165157	147.22905	58	122	AA		KEEP	---	---	---	---	capture			Silent	SNP	208897894	208897894	12348	2	A	T	T	9	9	PIKFYVE	T	4	4
PIKFYVE	200576	broad.mit.edu	36	2	208903551	208903551	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:208903551G>A	uc002vcz.1	+	c.3851G>A	c.(3850-3852)CGC>CAC	p.R1284H	PIKFYVE_uc002vcy.1_Missense_Mutation_p.R1228H	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1284					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.55814	953.208689	954.980133	336	266	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	208903551	208903551	12348	2	G	A	A	38	38	PIKFYVE	A	1	1
PTH2R	5746	broad.mit.edu	36	2	209016321	209016321	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:209016321A>G	uc002vdb.1	+	c.513A>G	c.(511-513)CGA>CGG	p.R171R		NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	171	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)	1														0.261538	101.202465	107.883529	34	96	AA		KEEP	---	---	---	---	capture		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Silent	SNP	209016321	209016321	13215	2	A	G	G	12	12	PTH2R	G	4	4
UNC80	285175	broad.mit.edu	36	2	210350449	210350449	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:210350449G>A	uc002vdj.1	+	c.521G>A	c.(520-522)CGA>CAA	p.R174Q		NM_182587	NP_872393	Q8N2C7	UNC80_HUMAN	chromosome 2 open reading frame 21 isoform 2	174						integral to membrane					0														0.519841	385.115597	385.201239	131	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	210350449	210350449	17554	2	G	A	A	37	37	UNC80	A	1	1
C2orf67	151050	broad.mit.edu	36	2	210596029	210596029	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:210596029G>T	uc002vds.1	-	c.2853C>A	c.(2851-2853)ATC>ATA	p.I951I	C2orf67_uc002vdt.1_Silent_p.I909I	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	951										ovary(3)	3		Renal(323;0.202)												0.328767	116.938506	120.739912	48	98	GG		KEEP	---	---	---	---	capture		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	Silent	SNP	210596029	210596029	2274	2	G	T	T	33	33	C2orf67	T	3	3
ACADL	33	broad.mit.edu	36	2	210789429	210789429	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:210789429G>A	uc002vdz.2	-	c.423C>T	c.(421-423)GTC>GTT	p.V141V		NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	141					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)												0.240602	70.630635	78.801115	32	101	GG		KEEP	---	---	---	---	capture		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	Silent	SNP	210789429	210789429	113	2	G	A	A	45	45	ACADL	A	2	2
APOB	338	broad.mit.edu	36	2	21083348	21083348	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:21083348C>T	uc002red.1	-	c.9897G>A	c.(9895-9897)CTG>CTA	p.L3299L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3299					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|very-low-density lipoprotein particle assembly	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)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.196721	42.72365	53.188846	24	98	CC		KEEP	---	---	---	---	capture			Silent	SNP	21083348	21083348	796	2	C	T	T	25	25	APOB	T	2	2
APOB	338	broad.mit.edu	36	2	21084138	21084138	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:21084138G>A	uc002red.1	-	c.9107C>T	c.(9106-9108)TCT>TTT	p.S3036F		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3036					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|very-low-density lipoprotein particle assembly	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)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.289062	94.845002	99.937643	37	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21084138	21084138	796	2	G	A	A	33	33	APOB	A	2	2
APOB	338	broad.mit.edu	36	2	21086814	21086814	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:21086814G>A	uc002red.1	-	c.6431C>T	c.(6430-6432)GCT>GTT	p.A2144V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2144	Heparin-binding.				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|very-low-density lipoprotein particle assembly	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)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.303922	85.19266	88.688634	31	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21086814	21086814	796	2	G	A	A	34	34	APOB	A	2	2
APOB	338	broad.mit.edu	36	2	21091577	21091577	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:21091577G>T	uc002red.1	-	c.3569C>A	c.(3568-3570)ACT>AAT	p.T1190N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1190					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|very-low-density lipoprotein particle assembly	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)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.246154	114.894296	126.343203	48	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21091577	21091577	796	2	G	T	T	36	36	APOB	T	3	3
APOB	338	broad.mit.edu	36	2	21119893	21119893	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:21119893G>A	uc002red.1	-	c.118C>T	c.(118-120)CCA>TCA	p.P40S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	40	Heparin-binding.				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|very-low-density lipoprotein particle assembly	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)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)							OREG0014485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.304348	17.114457	17.90117	7	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21119893	21119893	796	2	G	A	A	41	41	APOB	A	2	2
CPS1	1373	broad.mit.edu	36	2	211215494	211215494	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:211215494C>A	uc010fur.1	+	c.3019C>A	c.(3019-3021)CGC>AGC	p.R1007S	CPS1_uc002vee.2_Missense_Mutation_p.R1001S|CPS1_uc010fus.1_Missense_Mutation_p.R550S	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1001					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)	12														0.220588	68.673095	78.454311	30	106	CC		KEEP	---	---	---	---	capture		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Missense_Mutation	SNP	211215494	211215494	3961	2	C	A	A	23	23	CPS1	A	3	3
CPS1	1373	broad.mit.edu	36	2	211248721	211248721	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:211248721G>A	uc010fur.1	+	c.4204G>A	c.(4204-4206)GAC>AAC	p.D1402N	CPS1_uc002vee.2_Missense_Mutation_p.D1396N|CPS1_uc010fus.1_Missense_Mutation_p.D945N	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1396					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)	12														0.342466	72.149916	73.75193	25	48	GG		KEEP	---	---	---	---	capture		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Missense_Mutation	SNP	211248721	211248721	3961	2	G	A	A	33	33	CPS1	A	2	2
ERBB4	2066	broad.mit.edu	36	2	211956695	211956695	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:211956695G>A	uc002veg.1	-	c.3817C>T	c.(3817-3819)CGG>TGG	p.R1273W	ERBB4_uc002veh.1_Missense_Mutation_p.R1257W	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1273	Cytoplasmic (Potential).				cell proliferation|protein phosphorylation|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(12)|large_intestine(1)|breast(1)	14		Renal(323;0.06)|Lung NSC(271;0.197)								777	TSP Lung(8;0.080)			0.327273	86.952925	89.868541	36	74	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	211956695	211956695	5402	2	G	A	A	38	38	ERBB4	A	1	1
VWC2L	402117	broad.mit.edu	36	2	214987273	214987273	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:214987273C>A	uc002vet.2	+	c.111C>A	c.(109-111)ATC>ATA	p.I37I		NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	37						extracellular region					0														0.282353	55.457238	59.079609	24	61	CC		KEEP	---	---	---	---	capture			Silent	SNP	214987273	214987273	17815	2	C	A	A	32	32	VWC2L	A	3	3
ABCA12	26154	broad.mit.edu	36	2	215609985	215609985	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:215609985C>A	uc002vew.1	-	c.922G>T	c.(922-924)GGT>TGT	p.G308C		NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	308					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		Renal(323;0.127)				Ovarian(66;664 1488 5121 34295)								0.16129	32.113685	45.658085	20	104	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	Missense_Mutation	SNP	215609985	215609985	31	2	C	A	A	24	24	ABCA12	A	3	3
ABCA12	26154	broad.mit.edu	36	2	215637172	215637172	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:215637172C>T	uc002vew.1	-	c.179G>A	c.(178-180)CGA>CAA	p.R60Q		NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	60					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		Renal(323;0.127)				Ovarian(66;664 1488 5121 34295)								0.635036	261.348245	263.544671	87	50	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	Missense_Mutation	SNP	215637172	215637172	31	2	C	T	T	31	31	ABCA12	T	1	1
FN1	2335	broad.mit.edu	36	2	215982584	215982584	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:215982584C>T	uc002vfa.1	-	c.2246G>A	c.(2245-2247)GGA>GAA	p.G749E	FN1_uc002vfb.1_Missense_Mutation_p.G749E|FN1_uc002vfc.1_Missense_Mutation_p.G749E|FN1_uc002vfd.1_Missense_Mutation_p.G749E|FN1_uc002vfe.1_Missense_Mutation_p.G749E|FN1_uc002vff.1_Missense_Mutation_p.G749E|FN1_uc002vfg.1_Missense_Mutation_p.G749E|FN1_uc002vfh.1_Missense_Mutation_p.G749E|FN1_uc002vfi.1_Missense_Mutation_p.G749E|FN1_uc002vfj.1_Missense_Mutation_p.G749E	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	749	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1374				0.179245	34.261341	44.524511	19	87	CC		KEEP	---	---	---	---	capture		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Missense_Mutation	SNP	215982584	215982584	6204	2	C	T	T	30	30	FN1	T	2	2
FN1	2335	broad.mit.edu	36	2	215997201	215997201	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:215997201C>T	uc002vfa.1	-	c.1129G>A	c.(1129-1131)GAA>AAA	p.E377K	FN1_uc002vfb.1_Missense_Mutation_p.E377K|FN1_uc002vfc.1_Missense_Mutation_p.E377K|FN1_uc002vfd.1_Missense_Mutation_p.E377K|FN1_uc002vfe.1_Missense_Mutation_p.E377K|FN1_uc002vff.1_Missense_Mutation_p.E377K|FN1_uc002vfg.1_Missense_Mutation_p.E377K|FN1_uc002vfh.1_Missense_Mutation_p.E377K|FN1_uc002vfi.1_Missense_Mutation_p.E377K|FN1_uc002vfj.1_Missense_Mutation_p.E377K|FN1_uc002vfl.1_Missense_Mutation_p.E377K	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	377	Fibronectin type-II 1.|Collagen-binding.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1374				0.606061	505.705853	508.310912	160	104	CC		KEEP	---	---	---	---	capture		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Missense_Mutation	SNP	215997201	215997201	6204	2	C	T	T	32	32	FN1	T	2	2
XRCC5	7520	broad.mit.edu	36	2	216689680	216689680	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:216689680C>T	uc002vfy.1	+	c.189C>T	c.(187-189)GGC>GGT	p.G63G	XRCC5_uc002vfz.1_5'Flank	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	63					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|telomeric DNA binding			kidney(1)	1		Renal(323;0.0328)												0.503106	223.369493	223.370922	81	80	CC		KEEP	---	---	---	---	capture		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	Silent	SNP	216689680	216689680	18039	2	C	T	T	25	25	XRCC5	T	2	2
MARCH4	57574	broad.mit.edu	36	2	216850702	216850702	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:216850702C>T	uc002vgb.1	-	c.803G>A	c.(802-804)CGC>CAC	p.R268H		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	268						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)												0.322835	204.776322	211.84729	82	172	CC		KEEP	---	---	---	---	capture		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	Missense_Mutation	SNP	216850702	216850702	9686	2	C	T	T	27	27	MARCH4	T	1	1
SMARCAL1	50485	broad.mit.edu	36	2	217020106	217020106	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:217020106C>T	uc002vgc.2	+	c.1831C>T	c.(1831-1833)CGC>TGC	p.R611C	SMARCAL1_uc010fvf.1_Non-coding_Transcript|SMARCAL1_uc002vgd.2_Missense_Mutation_p.R611C|SMARCAL1_uc010fvg.1_Missense_Mutation_p.R589C	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	611					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)												0.253561	206.299273	225.658722	89	262	CC		KEEP	---	---	---	---	capture		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	Missense_Mutation	SNP	217020106	217020106	15271	2	C	T	T	31	31	SMARCAL1	T	1	1
SMARCAL1	50485	broad.mit.edu	36	2	217023883	217023883	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:217023883G>T	uc002vgc.2	+	c.1921G>T	c.(1921-1923)GTC>TTC	p.V641F	SMARCAL1_uc010fvf.1_Non-coding_Transcript|SMARCAL1_uc002vgd.2_Missense_Mutation_p.V641F|SMARCAL1_uc010fvg.1_Missense_Mutation_p.V619F	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	641					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)												0.266187	89.50269	96.37562	37	102	GG		KEEP	---	---	---	---	capture		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	Missense_Mutation	SNP	217023883	217023883	15271	2	G	T	T	36	36	SMARCAL1	T	3	3
TNS1	7145	broad.mit.edu	36	2	218404490	218404490	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:218404490C>A	uc002vgt.2	-	c.2931G>T	c.(2929-2931)AAG>AAT	p.K977N	TNS1_uc002vgr.2_Missense_Mutation_p.K977N|TNS1_uc002vgs.2_Missense_Mutation_p.K977N	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	977						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)												0.75	70.006624	71.821324	24	8	CC		KEEP	---	---	---	---	capture		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	Missense_Mutation	SNP	218404490	218404490	16884	2	C	A	A	32	32	TNS1	A	3	3
SLC11A1	6556	broad.mit.edu	36	2	218956058	218956058	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:218956058G>T	uc002vhv.1	+	c.139G>T	c.(139-141)GAC>TAC	p.D47Y	SLC11A1_uc010fvp.1_Missense_Mutation_p.D47Y|SLC11A1_uc010fvq.1_Intron|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.1_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	47	Pro/Ser-rich.|Cytoplasmic (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)												0.26	28.847808	31.458996	13	37	GG		KEEP	---	---	---	---	capture		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	218956058	218956058	14875	2	G	T	T	33	33	SLC11A1	T	3	3
USP37	57695	broad.mit.edu	36	2	219028578	219028578	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219028578G>A	uc010fvs.1	-	c.2821C>T	c.(2821-2823)CGG>TGG	p.R941W	USP37_uc002vie.2_Missense_Mutation_p.R941W|USP37_uc002vif.2_Missense_Mutation_p.R941W|USP37_uc002vig.2_Missense_Mutation_p.R847W	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	941					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|skin(1)	2		Renal(207;0.0915)												0.282895	103.057137	109.496437	43	109	GG		KEEP	---	---	---	---	capture		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	Missense_Mutation	SNP	219028578	219028578	17632	2	G	A	A	37	37	USP37	A	1	1
USP37	57695	broad.mit.edu	36	2	219047646	219047646	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219047646T>G	uc010fvs.1	-	c.2250A>C	c.(2248-2250)GAA>GAC	p.E750D	USP37_uc002vie.2_Missense_Mutation_p.E750D|USP37_uc002vif.2_Missense_Mutation_p.E750D|USP37_uc002vig.2_Missense_Mutation_p.E656D	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	750					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|skin(1)	2		Renal(207;0.0915)												0.303502	218.742874	227.605662	78	179	TT		KEEP	---	---	---	---	capture		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	Missense_Mutation	SNP	219047646	219047646	17632	2	T	G	G	64	64	USP37	G	4	4
USP37	57695	broad.mit.edu	36	2	219120010	219120010	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219120010G>A	uc010fvs.1	-	c.478C>T	c.(478-480)CGA>TGA	p.R160*	USP37_uc002vie.2_Nonsense_Mutation_p.R160*|USP37_uc002vif.2_Nonsense_Mutation_p.R160*|USP37_uc002vig.2_Nonsense_Mutation_p.R88*	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	160					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|skin(1)	2		Renal(207;0.0915)												0.258929	135.741336	147.538778	58	166	GG		KEEP	---	---	---	---	capture		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	Nonsense_Mutation	SNP	219120010	219120010	17632	2	G	A	A	37	37	USP37	A	5	1
PLCD4	84812	broad.mit.edu	36	2	219202506	219202506	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219202506G>A	uc002vij.1	+	c.995G>A	c.(994-996)CGC>CAC	p.R332H	PLCD4_uc002vik.1_3'UTR	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	332	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)												0.354839	56.730548	57.882533	22	40	GG		KEEP	---	---	---	---	capture		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Missense_Mutation	SNP	219202506	219202506	12459	2	G	A	A	38	38	PLCD4	A	1	1
PLCD4	84812	broad.mit.edu	36	2	219205113	219205113	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219205113G>A	uc002vij.1	+	c.1283G>A	c.(1282-1284)AGG>AAG	p.R428K		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	428	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)												0.235294	9.890732	10.980589	4	13	GG		KEEP	---	---	---	---	capture		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Missense_Mutation	SNP	219205113	219205113	12459	2	G	A	A	35	35	PLCD4	A	2	2
STK36	27148	broad.mit.edu	36	2	219272284	219272284	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219272284G>A	uc002viu.1	+	c.3773G>A	c.(3772-3774)CGG>CAG	p.R1258Q	STK36_uc002viv.1_Missense_Mutation_p.R1237Q|STK36_uc002viw.1_Missense_Mutation_p.R436Q|STK36_uc002vix.1_Missense_Mutation_p.R303Q	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1258					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development|protein phosphorylation	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)	8		Renal(207;0.0915)								551				0.569149	331.637124	332.42023	107	81	GG		KEEP	---	---	---	---	capture		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	Missense_Mutation	SNP	219272284	219272284	15822	2	G	A	A	39	39	STK36	A	1	1
CYP27A1	1593	broad.mit.edu	36	2	219386026	219386026	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219386026G>A	uc002viz.2	+	c.980G>A	c.(979-981)GGC>GAC	p.G327D		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	327					bile acid biosynthetic process|oxidation-reduction process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)			Cholecalciferol(DB00169)									0.515152	138.212558	138.232021	51	48	GG		KEEP	---	---	---	---	capture		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Missense_Mutation	SNP	219386026	219386026	4323	2	G	A	A	42	42	CYP27A1	A	2	2
PRKAG3	53632	broad.mit.edu	36	2	219399967	219399967	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219399967C>T	uc002vjb.1	-	c.1096G>A	c.(1096-1098)GCA>ACA	p.A366T	PRKAG3_uc010fvy.1_Silent_p.Q407Q	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	366	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)	1		Renal(207;0.0474)												0.602871	373.778704	375.717589	126	83	CC		KEEP	---	---	---	---	capture		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219399967	219399967	12945	2	C	T	T	28	28	PRKAG3	T	2	2
PRKAG3	53632	broad.mit.edu	36	2	219400278	219400278	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219400278G>A	uc002vjb.1	-	c.938C>T	c.(937-939)CCG>CTG	p.P313L	PRKAG3_uc010fvy.1_Missense_Mutation_p.R355W	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	313	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)	1		Renal(207;0.0474)												0.223881	34.690837	39.385924	15	52	GG		KEEP	---	---	---	---	capture		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219400278	219400278	12945	2	G	A	A	39	39	PRKAG3	A	1	1
CDK5R2	8941	broad.mit.edu	36	2	219533099	219533099	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219533099C>T	uc002vjf.1	+	c.313C>T	c.(313-315)CTC>TTC	p.L105F		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	105					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)												0.545455	34.696937	34.736065	12	10	CC		KEEP	---	---	---	---	capture		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219533099	219533099	3273	2	C	T	T	32	32	CDK5R2	T	2	2
CDK5R2	8941	broad.mit.edu	36	2	219533764	219533764	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219533764G>T	uc002vjf.1	+	c.978G>T	c.(976-978)AAG>AAT	p.K326N		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	326					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)												0.454545	72.611582	72.733327	30	36	GG		KEEP	---	---	---	---	capture		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219533764	219533764	3273	2	G	T	T	33	33	CDK5R2	T	3	3
CCDC108	255101	broad.mit.edu	36	2	219577232	219577232	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219577232C>T	uc002vjl.1	-	c.5241G>A	c.(5239-5241)AAG>AAA	p.K1747K	MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1747						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)												0.368771	336.840806	341.39928	111	190	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Silent	SNP	219577232	219577232	2863	2	C	T	T	24	24	CCDC108	T	2	2
CCDC108	255101	broad.mit.edu	36	2	219579039	219579039	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219579039C>T	uc002vjl.1	-	c.4870G>A	c.(4870-4872)GAC>AAC	p.D1624N		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1624						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)												0.290909	38.975707	41.131461	16	39	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219579039	219579039	2863	2	C	T	T	31	31	CCDC108	T	1	1
CCDC108	255101	broad.mit.edu	36	2	219592059	219592059	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219592059A>G	uc002vjl.1	-	c.3560T>C	c.(3559-3561)GTA>GCA	p.V1187A	CCDC108_uc002vjm.2_Missense_Mutation_p.V72A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1187						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)												0.268551	216.146949	229.784242	76	207	AA		KEEP	---	---	---	---	capture		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219592059	219592059	2863	2	A	G	G	14	14	CCDC108	G	4	4
CCDC108	255101	broad.mit.edu	36	2	219596228	219596228	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219596228C>T	uc002vjl.1	-	c.2765G>A	c.(2764-2766)CGA>CAA	p.R922Q		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	922	MSP.					integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)												0.621622	68.229427	68.709056	23	14	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219596228	219596228	2863	2	C	T	T	31	31	CCDC108	T	1	1
NHEJ1	79840	broad.mit.edu	36	2	219730599	219730599	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219730599C>T	uc002vjp.2	-	c.229G>A	c.(229-231)GAT>AAT	p.D77N	NHEJ1_uc002vjq.2_Non-coding_Transcript	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	77					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)												0.382353	72.844182	73.665531	26	42	CC		KEEP	---	---	---	---	capture		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	Missense_Mutation	SNP	219730599	219730599	10802	2	C	T	T	30	30	NHEJ1	T	2	2
SLC23A3	151295	broad.mit.edu	36	2	219736399	219736399	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219736399G>A	uc010fwb.1	-	c.1045C>T	c.(1045-1047)CTG>TTG	p.L349L	NHEJ1_uc002vjp.2_5'Flank|NHEJ1_uc002vjq.2_Non-coding_Transcript	NM_144712	NP_653313	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	466	Helical; (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)												0.260982	250.306339	270.314515	101	286	GG		KEEP	---	---	---	---	capture		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Silent	SNP	219736399	219736399	14961	2	G	A	A	34	34	SLC23A3	A	2	2
C2orf24	27013	broad.mit.edu	36	2	219749231	219749231	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219749231C>T	uc002vju.2	-	c.136G>A	c.(136-138)GAA>AAA	p.E46K	C2orf24_uc002vjv.1_Missense_Mutation_p.E46K|FAM134A_uc002vjw.2_5'Flank|FAM134A_uc010fwc.1_5'Flank	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	hypothetical protein LOC27013	46						integral to membrane					0		Renal(207;0.0915)												0.253731	36.546858	40.234415	17	50	CC		KEEP	---	---	---	---	capture		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219749231	219749231	2245	2	C	T	T	30	30	C2orf24	T	2	2
ZFAND2B	130617	broad.mit.edu	36	2	219782244	219782244	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219782244C>T	uc002vka.1	+	c.746C>T	c.(745-747)TCG>TTG	p.S249L	ZFAND2B_uc010fwd.1_3'UTR|ZFAND2B_uc002vjy.1_3'UTR|ZFAND2B_uc002vjz.1_3'UTR|ZFAND2B_uc002vkb.1_3'UTR	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	249						endoplasmic reticulum	protein binding|zinc ion binding				0		Renal(207;0.0915)												0.65	39.979061	40.375588	13	7	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219782244	219782244	18216	2	C	T	T	31	31	ZFAND2B	T	1	1
ABCB6	10058	broad.mit.edu	36	2	219785982	219785982	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219785982G>A	uc002vkc.1	-	c.1855C>T	c.(1855-1857)CTT>TTT	p.L619F	ABCB6_uc010fwe.1_Missense_Mutation_p.L573F	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	619	ABC transporter.				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|cadmium ion transmembrane transporter activity|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)												0.204082	21.227802	25.206938	10	39	GG		KEEP	---	---	---	---	capture		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219785982	219785982	46	2	G	A	A	36	36	ABCB6	A	2	2
ANKZF1	55139	broad.mit.edu	36	2	219803298	219803298	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219803298C>A	uc002vkg.1	+	c.75C>A	c.(73-75)GTC>GTA	p.V25V	ANKZF1_uc002vkh.1_Intron|ANKZF1_uc002vki.1_Silent_p.V25V|ANKZF1_uc002vkj.1_5'Flank|ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	25						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)												0.283951	49.479726	52.883147	23	58	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Silent	SNP	219803298	219803298	701	2	C	A	A	32	32	ANKZF1	A	3	3
ANKZF1	55139	broad.mit.edu	36	2	219805582	219805582	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219805582G>A	uc002vkg.1	+	c.491G>A	c.(490-492)CGA>CAA	p.R164Q	ANKZF1_uc002vkh.1_5'UTR|ANKZF1_uc002vki.1_Missense_Mutation_p.R164Q|ANKZF1_uc002vkj.1_Missense_Mutation_p.R152Q|ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	164						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)												0.539683	200.300015	200.471979	68	58	GG		KEEP	---	---	---	---	capture		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219805582	219805582	701	2	G	A	A	37	37	ANKZF1	A	1	1
ANKZF1	55139	broad.mit.edu	36	2	219808250	219808250	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219808250C>T	uc002vkg.1	+	c.1663C>T	c.(1663-1665)CTG>TTG	p.L555L	ANKZF1_uc002vkh.1_Silent_p.L345L|ANKZF1_uc002vki.1_Silent_p.L555L|ANKZF1_uc002vkj.1_3'UTR	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	555	ANK 2.					intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)												0.525253	148.089262	148.143417	52	47	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Silent	SNP	219808250	219808250	701	2	C	T	T	28	28	ANKZF1	T	2	2
TUBA4A	7277	broad.mit.edu	36	2	219823430	219823430	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219823430C>T	uc002vkt.1	-	c.1235G>A	c.(1234-1236)GGC>GAC	p.G412D	TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	tubulin, alpha 4a	412					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		Renal(207;0.0474)												0.209016	107.496715	126.62174	51	193	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219823430	219823430	17304	2	C	T	T	26	26	TUBA4A	T	2	2
PTPRN	5798	broad.mit.edu	36	2	219863820	219863820	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219863820G>A	uc002vkz.1	-	c.2766C>T	c.(2764-2766)ATC>ATT	p.I922I	PTPRN_uc002vla.1_Silent_p.I893I	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	922	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Renal(207;0.0474)												0.325581	104.998142	108.484134	42	87	GG		KEEP	---	---	---	---	capture		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	Silent	SNP	219863820	219863820	13264	2	G	A	A	37	37	PTPRN	A	1	1
PTPRN	5798	broad.mit.edu	36	2	219869420	219869420	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219869420G>A	uc002vkz.1	-	c.2373C>T	c.(2371-2373)ATC>ATT	p.I791I	PTPRN_uc002vla.1_Silent_p.I762I|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	791	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Renal(207;0.0474)												0.272727	113.217978	121.416233	48	128	GG		KEEP	---	---	---	---	capture		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	Silent	SNP	219869420	219869420	13264	2	G	A	A	37	37	PTPRN	A	1	1
PTPRN	5798	broad.mit.edu	36	2	219869739	219869739	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219869739G>A	uc002vkz.1	-	c.2286C>T	c.(2284-2286)AGC>AGT	p.S762S	PTPRN_uc002vla.1_Silent_p.S733S|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	762	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Renal(207;0.0474)												0.362069	54.05842	55.029611	21	37	GG		KEEP	---	---	---	---	capture		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	Silent	SNP	219869739	219869739	13264	2	G	A	A	38	38	PTPRN	A	1	1
DNPEP	23549	broad.mit.edu	36	2	219959347	219959347	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219959347C>T	uc002vle.2	-	c.364G>A	c.(364-366)GGC>AGC	p.G122S	DNPEP_uc002vlf.1_Missense_Mutation_p.G108S|DNPEP_uc002vlh.2_Missense_Mutation_p.G69S|DNPEP_uc002vli.1_Missense_Mutation_p.G69S|DNPEP_uc002vlj.2_Missense_Mutation_p.G112S	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	112					peptide metabolic process|proteolysis	vacuole	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)			L-Glutamic Acid(DB00142)									0.20122	73.427932	87.002018	33	131	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219959347	219959347	4862	2	C	T	T	22	22	DNPEP	T	2	2
DES	1674	broad.mit.edu	36	2	219993578	219993578	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219993578G>A	uc002vll.1	+	c.853G>A	c.(853-855)GCG>ACG	p.A285T		NM_001927	NP_001918	P17661	DESM_HUMAN	desmin	285	Rod.|Coil 2A.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			central_nervous_system(2)	2		Renal(207;0.0183)												0.348837	117.235958	119.8371	45	84	GG		KEEP	---	---	---	---	capture		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	Missense_Mutation	SNP	219993578	219993578	4628	2	G	A	A	38	38	DES	A	1	1
DES	1674	broad.mit.edu	36	2	219994405	219994405	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219994405C>T	uc002vll.1	+	c.1123C>T	c.(1123-1125)CGG>TGG	p.R375W		NM_001927	NP_001918	P17661	DESM_HUMAN	desmin	375	Rod.|Coil 2B.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			central_nervous_system(2)	2		Renal(207;0.0183)												0.267327	65.421301	70.333517	27	74	CC		KEEP	---	---	---	---	capture		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	Missense_Mutation	SNP	219994405	219994405	4628	2	C	T	T	23	23	DES	T	1	1
SPEG	10290	broad.mit.edu	36	2	220056915	220056915	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220056915G>A	uc010fwg.1	+	c.6486G>A	c.(6484-6486)CAG>CAA	p.Q2162Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2162					muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)								482				0.222222	28.79602	32.611439	12	42	GG		KEEP	---	---	---	---	capture		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	Silent	SNP	220056915	220056915	15548	2	G	A	A	35	35	SPEG	A	2	2
SPEG	10290	broad.mit.edu	36	2	220057397	220057397	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220057397G>A	uc010fwg.1	+	c.6968G>A	c.(6967-6969)AGC>AAC	p.S2323N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2323					muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)								482				0.333333	39.607079	40.715568	15	30	GG		KEEP	---	---	---	---	capture		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	Missense_Mutation	SNP	220057397	220057397	15548	2	G	A	A	34	34	SPEG	A	2	2
SPEG	10290	broad.mit.edu	36	2	220062428	220062428	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220062428C>T	uc010fwg.1	+	c.8444C>T	c.(8443-8445)CCG>CTG	p.P2815L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2815	Pro-rich.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)								482				0.509091	147.125516	147.132655	56	54	CC		KEEP	---	---	---	---	capture		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	Missense_Mutation	SNP	220062428	220062428	15548	2	C	T	T	23	23	SPEG	T	1	1
SPEG	10290	broad.mit.edu	36	2	220062561	220062561	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220062561G>A	uc010fwg.1	+	c.8577G>A	c.(8575-8577)GAG>GAA	p.E2859E		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2859	Pro-rich.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)								482				0.272	165.396272	177.121163	68	182	GG		KEEP	---	---	---	---	capture		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	Silent	SNP	220062561	220062561	15548	2	G	A	A	34	34	SPEG	A	2	2
SPEG	10290	broad.mit.edu	36	2	220065201	220065201	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220065201C>T	uc010fwg.1	+	c.9586C>T	c.(9586-9588)CGA>TGA	p.R3196*		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3196	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)								482				0.268519	67.527563	72.751799	29	79	CC		KEEP	---	---	---	---	capture		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	Nonsense_Mutation	SNP	220065201	220065201	15548	2	C	T	T	27	27	SPEG	T	5	1
GMPPA	29926	broad.mit.edu	36	2	220078245	220078245	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220078245G>T	uc002vlt.1	+	c.672G>T	c.(670-672)CAG>CAT	p.Q224H	GMPPA_uc002vlr.1_Missense_Mutation_p.Q224H|GMPPA_uc002vls.1_Missense_Mutation_p.Q224H|GMPPA_uc002vlu.1_Missense_Mutation_p.Q224H|GMPPA_uc002vlv.1_Missense_Mutation_p.Q224H|GMPPA_uc002vlw.1_Non-coding_Transcript|GMPPA_uc002vlx.1_Missense_Mutation_p.Q224H	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	224					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)												0.262295	35.26745	38.389738	16	45	GG		KEEP	---	---	---	---	capture		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	Missense_Mutation	SNP	220078245	220078245	6763	2	G	T	T	35	35	GMPPA	T	3	3
OBSL1	23363	broad.mit.edu	36	2	220140707	220140707	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220140707G>A	uc010fwk.1	-	c.1511C>T	c.(1510-1512)ACC>ATC	p.T504I	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.T504I|OBSL1_uc002vmj.2_Missense_Mutation_p.T91I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	504					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)												0.254386	66.414205	72.661312	29	85	GG		KEEP	---	---	---	---	capture		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	Missense_Mutation	SNP	220140707	220140707	11218	2	G	A	A	44	44	OBSL1	A	2	2
OBSL1	23363	broad.mit.edu	36	2	220143207	220143207	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220143207G>A	uc010fwk.1	-	c.992C>T	c.(991-993)GCC>GTC	p.A331V	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.A331V|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	331					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)												0.619048	80.857212	81.378962	26	16	GG		KEEP	---	---	---	---	capture		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	Missense_Mutation	SNP	220143207	220143207	11218	2	G	A	A	42	42	OBSL1	A	2	2
STK11IP	114790	broad.mit.edu	36	2	220182069	220182069	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220182069G>T	uc002vml.1	+	c.1849G>T	c.(1849-1851)GAT>TAT	p.D617Y	STK11IP_uc002vmm.1_Missense_Mutation_p.D606Y	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	617					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)												0.4	19.486537	19.663873	8	12	GG		KEEP	---	---	---	---	capture		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	220182069	220182069	15808	2	G	T	T	33	33	STK11IP	T	3	3
SLC4A3	6508	broad.mit.edu	36	2	220200962	220200962	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220200962G>A	uc002vmo.2	+	c.4G>A	c.(4-6)GCC>ACC	p.A2T	SLC4A3_uc002vmn.2_Missense_Mutation_p.A2T|SLC4A3_uc002vmp.2_Missense_Mutation_p.A2T|SLC4A3_uc010fwm.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	2	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(1)|breast(1)	2		Renal(207;0.0183)												0.3	14.040177	14.756242	6	14	GG		KEEP	---	---	---	---	capture		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	220200962	220200962	15152	2	G	A	A	42	42	SLC4A3	A	2	2
SLC4A3	6508	broad.mit.edu	36	2	220205954	220205954	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220205954G>A	uc002vmo.2	+	c.1337G>A	c.(1336-1338)CGT>CAT	p.R446H	SLC4A3_uc002vmp.2_Missense_Mutation_p.R419H|SLC4A3_uc010fwm.1_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	419	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(1)|breast(1)	2		Renal(207;0.0183)												0.370787	84.750257	86.05617	33	56	GG		KEEP	---	---	---	---	capture		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	220205954	220205954	15152	2	G	A	A	40	40	SLC4A3	A	1	1
SLC4A3	6508	broad.mit.edu	36	2	220207542	220207542	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220207542G>A	uc002vmo.2	+	c.1799G>A	c.(1798-1800)CGC>CAC	p.R600H	SLC4A3_uc002vmp.2_Missense_Mutation_p.R573H|SLC4A3_uc010fwm.1_Missense_Mutation_p.R123H|SLC4A3_uc010fwn.1_Missense_Mutation_p.R82H	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	573	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(1)|breast(1)	2		Renal(207;0.0183)												0.567308	164.427599	164.839185	59	45	GG		KEEP	---	---	---	---	capture		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	220207542	220207542	15152	2	G	A	A	38	38	SLC4A3	A	1	1
SLC4A3	6508	broad.mit.edu	36	2	220212614	220212614	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220212614C>T	uc002vmo.2	+	c.3271C>T	c.(3271-3273)CGT>TGT	p.R1091C	SLC4A3_uc002vmp.2_Missense_Mutation_p.R1064C|SLC4A3_uc010fwm.1_Missense_Mutation_p.R614C	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1064	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(1)|breast(1)	2		Renal(207;0.0183)												0.27619	67.637621	72.368463	29	76	CC		KEEP	---	---	---	---	capture		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	220212614	220212614	15152	2	C	T	T	27	27	SLC4A3	T	1	1
SH3YL1	26751	broad.mit.edu	36	2	221035	221035	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:221035C>A	uc002qvx.1	-	c.690G>T	c.(688-690)CAG>CAT	p.Q230H	SH3YL1_uc002qvu.1_Non-coding_Transcript|SH3YL1_uc002qvv.1_Missense_Mutation_p.Q134H|SH3YL1_uc002qvw.1_Non-coding_Transcript|SH3YL1_uc002qvy.1_Missense_Mutation_p.Q230H|SH3YL1_uc002qvz.1_Non-coding_Transcript|SH3YL1_uc002qwa.1_Non-coding_Transcript|SH3YL1_uc010ewe.1_Missense_Mutation_p.Q134H	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	SH3 domain containing, Ysc84-like 1	230										ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)												0.338983	151.427958	155.493849	60	117	CC		KEEP	---	---	---	---	capture		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)	Missense_Mutation	SNP	221035	221035	14755	2	C	A	A	32	32	SH3YL1	A	3	3
SH3YL1	26751	broad.mit.edu	36	2	221106	221106	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:221106G>A	uc002qvx.1	-	c.619C>T	c.(619-621)CTT>TTT	p.L207F	SH3YL1_uc002qvu.1_Non-coding_Transcript|SH3YL1_uc002qvv.1_Missense_Mutation_p.L111F|SH3YL1_uc002qvw.1_Non-coding_Transcript|SH3YL1_uc002qvy.1_Missense_Mutation_p.L207F|SH3YL1_uc002qvz.1_Non-coding_Transcript|SH3YL1_uc002qwa.1_Non-coding_Transcript|SH3YL1_uc010ewe.1_Missense_Mutation_p.L111F	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	SH3 domain containing, Ysc84-like 1	207										ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)												0.282258	86.765623	92.052254	35	89	GG		KEEP	---	---	---	---	capture		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)	Missense_Mutation	SNP	221106	221106	14755	2	G	A	A	33	33	SH3YL1	A	2	2
EPHA4	2043	broad.mit.edu	36	2	221999565	221999565	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:221999565C>A	uc002vmq.1	-	c.2709G>T	c.(2707-2709)TTG>TTT	p.L903F	EPHA4_uc002vmr.2_Missense_Mutation_p.L903F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4	903	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(3)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	9		Renal(207;0.0183)								395				0.298507	50.987197	53.411035	20	47	CC		KEEP	---	---	---	---	capture		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	Missense_Mutation	SNP	221999565	221999565	5362	2	C	A	A	21	21	EPHA4	A	3	3
EPHA4	2043	broad.mit.edu	36	2	222009462	222009462	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:222009462T>C	uc002vmq.1	-	c.2247A>G	c.(2245-2247)GCA>GCG	p.A749A	EPHA4_uc002vmr.2_Silent_p.A749A	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4	749	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(3)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	9		Renal(207;0.0183)								395				0.267176	89.674257	96.082697	35	96	TT		KEEP	---	---	---	---	capture		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	Silent	SNP	222009462	222009462	5362	2	T	C	C	59	59	EPHA4	C	4	4
EPHA4	2043	broad.mit.edu	36	2	222074028	222074028	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:222074028C>T	uc002vmq.1	-	c.932G>A	c.(931-933)CGA>CAA	p.R311Q	EPHA4_uc002vmr.2_Missense_Mutation_p.R311Q	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4	311	Cys-rich.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(3)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	9		Renal(207;0.0183)								395				0.276119	88.113967	94.163484	37	97	CC		KEEP	---	---	---	---	capture		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	Missense_Mutation	SNP	222074028	222074028	5362	2	C	T	T	31	31	EPHA4	T	1	1
PAX3	5077	broad.mit.edu	36	2	222805174	222805174	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:222805174C>T	uc002vmt.1	-	c.659G>A	c.(658-660)CGC>CAC	p.R220H	PAX3_uc002vmy.1_Missense_Mutation_p.R219H|PAX3_uc002vmv.1_Missense_Mutation_p.R220H|PAX3_uc002vmw.1_Missense_Mutation_p.R220H|PAX3_uc002vmx.1_Missense_Mutation_p.R220H|PAX3_uc010fwo.1_Missense_Mutation_p.R220H	NM_181459	NP_852124	P23760	PAX3_HUMAN	paired box 3 isoform PAX3e	220	Homeobox.				apoptosis|organ morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)	765		Renal(207;0.0183)								141				0.270742	142.752072	153.608452	62	167	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	222805174	222805174	11900	2	C	T	T	27	27	PAX3	T	1	1
FARSB	10056	broad.mit.edu	36	2	223197441	223197441	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:223197441C>T	uc002vne.1	-	c.964G>A	c.(964-966)GAA>AAA	p.E322K	FARSB_uc002vnf.1_Missense_Mutation_p.E223K	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	322	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)			L-Phenylalanine(DB00120)									0.262295	41.470015	44.589636	16	45	CC		KEEP	---	---	---	---	capture		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	Missense_Mutation	SNP	223197441	223197441	5916	2	C	T	T	32	32	FARSB	T	2	2
MOGAT1	116255	broad.mit.edu	36	2	223262411	223262411	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:223262411C>T	uc010fws.1	+	c.457C>T	c.(457-459)CGA>TGA	p.R153*	MOGAT1_uc010fwt.1_Nonsense_Mutation_p.R113*	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	153					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)				Ovarian(93;205 1446 2385 11581 25911)								0.281768	125.454665	133.197501	51	130	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	Nonsense_Mutation	SNP	223262411	223262411	10085	2	C	T	T	31	31	MOGAT1	T	5	1
ACSL3	2181	broad.mit.edu	36	2	223507554	223507554	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:223507554G>A	uc002vni.1	+	c.1910G>A	c.(1909-1911)CGA>CAA	p.R637Q	ACSL3_uc002vnj.1_Missense_Mutation_p.R637Q	NM_004457	NP_976251	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	637	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)			Icosapent(DB00159)									0.347826	61.376255	62.787789	24	45	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Missense_Mutation	SNP	223507554	223507554	179	2	G	A	A	37	37	ACSL3	A	1	1
SCG2	7857	broad.mit.edu	36	2	224170480	224170480	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:224170480G>T	uc002vnm.1	-	c.1765C>A	c.(1765-1767)CTG>ATG	p.L589M	SCG2_uc010fwv.1_Missense_Mutation_p.L589M	NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	589					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)												0.331797	174.702222	180.153994	72	145	GG		KEEP	---	---	---	---	capture		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	Missense_Mutation	SNP	224170480	224170480	14372	2	G	T	T	33	33	SCG2	T	3	3
SCG2	7857	broad.mit.edu	36	2	224170694	224170694	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:224170694C>A	uc002vnm.1	-	c.1551G>T	c.(1549-1551)GAG>GAT	p.E517D	SCG2_uc010fwv.1_Missense_Mutation_p.E517D	NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	517					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)												0.28	109.797202	117.41711	49	126	CC		KEEP	---	---	---	---	capture		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	Missense_Mutation	SNP	224170694	224170694	14372	2	C	A	A	32	32	SCG2	A	3	3
CUL3	8452	broad.mit.edu	36	2	225076738	225076738	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:225076738G>T	uc010fwy.1	-	c.1270C>A	c.(1270-1272)CTT>ATT	p.L424I	CUL3_uc002vny.1_Missense_Mutation_p.L418I	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	418					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			ovary(1)|liver(1)|kidney(1)	3		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)												0.525	59.871572	59.89301	21	19	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	Missense_Mutation	SNP	225076738	225076738	4216	2	G	T	T	35	35	CUL3	T	3	3
DOCK10	55619	broad.mit.edu	36	2	225362124	225362124	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:225362124G>T	uc010fwz.1	-	c.5319C>A	c.(5317-5319)TTC>TTA	p.F1773L	DOCK10_uc002vob.2_Missense_Mutation_p.F1767L|DOCK10_uc002voc.1_Missense_Mutation_p.F226L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1773	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)												0.235294	25.070861	28.342575	12	39	GG		KEEP	---	---	---	---	capture		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	Missense_Mutation	SNP	225362124	225362124	4869	2	G	T	T	33	33	DOCK10	T	3	3
DOCK10	55619	broad.mit.edu	36	2	225407190	225407190	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:225407190G>T	uc010fwz.1	-	c.2885C>A	c.(2884-2886)ACT>AAT	p.T962N	DOCK10_uc002vob.2_Missense_Mutation_p.T956N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	962							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)												0.22069	74.215703	84.636476	32	113	GG		KEEP	---	---	---	---	capture		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	Missense_Mutation	SNP	225407190	225407190	4869	2	G	T	T	36	36	DOCK10	T	3	3
DOCK10	55619	broad.mit.edu	36	2	225437899	225437899	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:225437899G>A	uc010fwz.1	-	c.1407C>T	c.(1405-1407)ACC>ACT	p.T469T	DOCK10_uc002vob.2_Silent_p.T463T|DOCK10_uc002vod.1_Silent_p.T469T	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	469							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)												0.572519	696.520794	698.329044	225	168	GG		KEEP	---	---	---	---	capture		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	Silent	SNP	225437899	225437899	4869	2	G	A	A	47	47	DOCK10	A	2	2
DOCK10	55619	broad.mit.edu	36	2	225447274	225447274	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:225447274G>A	uc010fwz.1	-	c.1054C>T	c.(1054-1056)CGA>TGA	p.R352*	DOCK10_uc002vob.2_Nonsense_Mutation_p.R346*|DOCK10_uc002vod.1_Nonsense_Mutation_p.R352*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	352							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)												0.54386	92.825816	92.920881	31	26	GG		KEEP	---	---	---	---	capture		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	Nonsense_Mutation	SNP	225447274	225447274	4869	2	G	A	A	37	37	DOCK10	A	5	1
DOCK10	55619	broad.mit.edu	36	2	225449052	225449052	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:225449052G>T	uc010fwz.1	-	c.878C>A	c.(877-879)CCT>CAT	p.P293H	DOCK10_uc002vob.2_Missense_Mutation_p.P287H|DOCK10_uc002vod.1_Missense_Mutation_p.P293H	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	293							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)												0.569697	275.652548	276.348308	94	71	GG		KEEP	---	---	---	---	capture		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	Missense_Mutation	SNP	225449052	225449052	4869	2	G	T	T	35	35	DOCK10	T	3	3
KIAA1486	57624	broad.mit.edu	36	2	226155802	226155802	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:226155802G>A	uc002voe.2	+	c.1425G>A	c.(1423-1425)TCG>TCA	p.S475S	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S245S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	475	Pro-rich.									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)												0.643564	192.183173	194.013072	65	36	GG		KEEP	---	---	---	---	capture		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	Silent	SNP	226155802	226155802	8546	2	G	A	A	37	37	KIAA1486	A	1	1
KIAA1486	57624	broad.mit.edu	36	2	226199960	226199960	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:226199960G>A	uc002voe.2	+	c.1702G>A	c.(1702-1704)GCG>ACG	p.A568T	KIAA1486_uc010fxa.1_Missense_Mutation_p.G97D|KIAA1486_uc002vof.1_Missense_Mutation_p.A338T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	568										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)												0.6875	33.628382	34.12835	11	5	GG		KEEP	---	---	---	---	capture		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	Missense_Mutation	SNP	226199960	226199960	8546	2	G	A	A	42	42	KIAA1486	A	2	2
KIAA1486	57624	broad.mit.edu	36	2	226224517	226224517	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:226224517C>T	uc002voe.2	+	c.1954C>T	c.(1954-1956)CGT>TGT	p.R652C	KIAA1486_uc010fxa.1_3'UTR|KIAA1486_uc002vof.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	652										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)												0.573363	754.959384	757.032651	254	189	CC		KEEP	---	---	---	---	capture		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	Missense_Mutation	SNP	226224517	226224517	8546	2	C	T	T	31	31	KIAA1486	T	1	1
IRS1	3667	broad.mit.edu	36	2	227368457	227368457	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:227368457C>T	uc002voh.2	-	c.3242G>A	c.(3241-3243)CGC>CAC	p.R1081H	IRS1_uc010fxb.1_Missense_Mutation_p.R1081H	NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1081					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			central_nervous_system(4)|lung(3)|ovary(1)|pancreas(1)	9		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)								143				0.311005	158.802725	165.449627	65	144	CC		KEEP	---	---	---	---	capture		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	Missense_Mutation	SNP	227368457	227368457	8144	2	C	T	T	27	27	IRS1	T	1	1
COL4A3	1285	broad.mit.edu	36	2	227853548	227853548	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:227853548G>A	uc002vom.1	+	c.2372G>A	c.(2371-2373)CGA>CAA	p.R791Q	COL4A3_uc002von.1_Missense_Mutation_p.R791Q|COL4A3_uc002voo.1_Missense_Mutation_p.R791Q|COL4A3_uc002vop.1_Missense_Mutation_p.R791Q	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	791	Triple-helical region.|Cell attachment site (Potential).				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)												0.22619	122.471191	139.815377	57	195	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	Missense_Mutation	SNP	227853548	227853548	3829	2	G	A	A	37	37	COL4A3	A	1	1
COL4A3	1285	broad.mit.edu	36	2	227884783	227884783	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:227884783G>A	uc002vom.1	+	c.4966G>A	c.(4966-4968)GAA>AAA	p.E1656K	COL4A3_uc002von.1_Missense_Mutation_p.R1598K|COL4A3_uc002voo.1_3'UTR|COL4A3_uc002vop.1_3'UTR|COL4A3_uc010fxf.1_Missense_Mutation_p.E72K	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1656	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)												0.27193	81.067861	86.419047	31	83	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	Missense_Mutation	SNP	227884783	227884783	3829	2	G	A	A	33	33	COL4A3	A	2	2
TM4SF20	79853	broad.mit.edu	36	2	227936793	227936793	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:227936793C>A	uc002vpb.2	-	c.581G>T	c.(580-582)GGT>GTT	p.G194V		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	194	Helical; (Potential).					integral to membrane|plasma membrane					0		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)												0.291667	195.75604	206.027626	77	187	CC		KEEP	---	---	---	---	capture		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	Missense_Mutation	SNP	227936793	227936793	16499	2	C	A	A	18	18	TM4SF20	A	3	3
TM4SF20	79853	broad.mit.edu	36	2	227939051	227939051	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:227939051A>G	uc002vpb.2	-	c.401_splice	c.e3+1	p.S134_splice		NM_024795	NP_079071			transmembrane 4 L six family member 20							integral to membrane|plasma membrane					0		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)												0.277228	84.967132	89.470845	28	73	AA		KEEP	---	---	---	---	capture		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	Splice_Site_SNP	SNP	227939051	227939051	16499	2	A	G	G	14	14	TM4SF20	G	5	4
SLC19A3	80704	broad.mit.edu	36	2	228271740	228271740	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:228271740G>T	uc002vpi.1	-	c.935C>A	c.(934-936)TCT>TAT	p.S312Y	SLC19A3_uc002vpj.2_Non-coding_Transcript	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	312	Extracellular (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)			L-Cysteine(DB00151)									0.275168	92.802569	99.592079	41	108	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	Missense_Mutation	SNP	228271740	228271740	14926	2	G	T	T	33	33	SLC19A3	T	3	3
WDR69	164781	broad.mit.edu	36	2	228471242	228471242	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:228471242G>T	uc002vpn.1	+	c.540_splice	c.e6+1	p.I180_splice	WDR69_uc002vpo.1_Splice_Site_SNP	NM_178821	NP_849143			WD repeat domain 69											breast(1)	1		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)												0.231884	37.461623	42.008441	16	53	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	Splice_Site_SNP	SNP	228471242	228471242	17892	2	G	T	T	36	36	WDR69	T	5	3
SPHKAP	80309	broad.mit.edu	36	2	228592985	228592985	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:228592985G>A	uc002vpq.1	-	c.829C>T	c.(829-831)CCC>TCC	p.P277S	SPHKAP_uc002vpp.1_Missense_Mutation_p.P277S	NM_030623	NP_085126	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	277						cytoplasm	protein binding			ovary(4)|lung(1)	5		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)												0.230315	259.810753	293.686392	117	391	GG		KEEP	---	---	---	---	capture		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	Missense_Mutation	SNP	228592985	228592985	15560	2	G	A	A	41	41	SPHKAP	A	2	2
TRIP12	9320	broad.mit.edu	36	2	230431891	230431891	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:230431891C>T	uc002vpx.1	-	c.868G>A	c.(868-870)GAA>AAA	p.E290K	TRIP12_uc002vpw.1_Missense_Mutation_p.E248K|TRIP12_uc002vpy.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.E248K	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	248					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|breast(1)|central_nervous_system(1)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)												0.25	89.683155	98.315586	38	114	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	Missense_Mutation	SNP	230431891	230431891	17106	2	C	T	T	30	30	TRIP12	T	2	2
FBXO36	130888	broad.mit.edu	36	2	230549245	230549245	+	Silent	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:230549245A>T	uc010fxi.1	+	c.141A>T	c.(139-141)CGA>CGT	p.R47R	FBXO36_uc002vqa.1_Silent_p.R47R|FBXO36_uc002vqb.1_Silent_p.R16R|FBXO36_uc002vqc.1_Non-coding_Transcript|FBXO36_uc002vpz.2_Silent_p.R47R	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN	F-box protein 36	47										ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)												0.324324	95.855053	98.899002	36	75	AA		KEEP	---	---	---	---	capture		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	Silent	SNP	230549245	230549245	5982	2	A	T	T	12	12	FBXO36	T	4	4
SLC16A14	151473	broad.mit.edu	36	2	230619435	230619435	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:230619435G>T	uc002vqd.1	-	c.651C>A	c.(649-651)AAC>AAA	p.N217K	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.N217K|SLC16A14_uc002vqf.2_Missense_Mutation_p.N217K	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	217	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(1)	5		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)												0.300654	117.709233	123.130501	46	107	GG		KEEP	---	---	---	---	capture		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	Missense_Mutation	SNP	230619435	230619435	14903	2	G	T	T	44	44	SLC16A14	T	3	3
SP110	3431	broad.mit.edu	36	2	230750641	230750641	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:230750641C>A	uc002vqg.2	-	c.1448_splice	c.e14-1	p.G483_splice	SP110_uc002vqh.2_Splice_Site_SNP_p.G483_splice|SP110_uc010fxj.1_Splice_Site_SNP_p.G126_splice|SP110_uc002vqi.2_Splice_Site_SNP_p.G483_splice|SP110_uc010fxk.1_Splice_Site_SNP_p.G481_splice	NM_080424	NP_536349			SP110 nuclear body protein isoform c						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)							(HEC6-Tumor)|(OV56-Tumor)	445				0.323877	347.706429	359.364797	137	286	CC		KEEP	---	---	---	---	capture		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	Splice_Site_SNP	SNP	230750641	230750641	15461	2	C	A	A	24	24	SP110	A	5	3
SP110	3431	broad.mit.edu	36	2	230787965	230787965	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:230787965T>C	uc002vqg.2	-	c.260A>G	c.(259-261)CAA>CGA	p.Q87R	SP110_uc002vqh.2_Missense_Mutation_p.Q87R|SP110_uc002vqi.2_Missense_Mutation_p.Q87R|SP110_uc010fxk.1_Missense_Mutation_p.Q87R	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform c	87	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)								445				0.617978	370.28666	372.460506	110	68	TT		KEEP	---	---	---	---	capture		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	Missense_Mutation	SNP	230787965	230787965	15461	2	T	C	C	63	63	SP110	C	4	4
SP100	6672	broad.mit.edu	36	2	231022089	231022089	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231022089C>T	uc002vqu.1	+	c.566C>T	c.(565-567)TCG>TTG	p.S189L	SP100_uc002vqs.2_Missense_Mutation_p.S189L|SP100_uc002vqt.1_Missense_Mutation_p.S189L|SP100_uc002vqq.1_Missense_Mutation_p.S189L|SP100_uc002vqr.1_Missense_Mutation_p.S164L|SP100_uc002vqv.1_Missense_Mutation_p.S153L	NM_001080391	NP_001073860	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 1	189					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon|retinoic acid receptor signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|general transcriptional repressor activity|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)												0.277487	127.990364	136.502771	53	138	CC		KEEP	---	---	---	---	capture		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	Missense_Mutation	SNP	231022089	231022089	15460	2	C	T	T	31	31	SP100	T	1	1
CAB39	51719	broad.mit.edu	36	2	231333014	231333014	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231333014T>C	uc002vqx.1	+	c.54T>C	c.(52-54)AAT>AAC	p.N18N	CAB39_uc010fxq.1_Silent_p.N18N|CAB39_uc010fxr.1_Silent_p.N18N	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	calcium binding protein 39	18					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)	1		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)												0.124294	34.930571	59.34765	22	155	TT		KEEP	---	---	---	---	capture		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	Silent	SNP	231333014	231333014	2641	2	T	C	C	50	50	CAB39	C	4	4
CAB39	51719	broad.mit.edu	36	2	231366270	231366270	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231366270T>G	uc002vqx.1	+	c.378T>G	c.(376-378)ATT>ATG	p.I126M	CAB39_uc010fxq.1_Missense_Mutation_p.I126M|CAB39_uc010fxr.1_Missense_Mutation_p.I126M	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	calcium binding protein 39	126					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)	1		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)												0.23741	91.807981	100.562481	33	106	TT		KEEP	---	---	---	---	capture		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	Missense_Mutation	SNP	231366270	231366270	2641	2	T	G	G	64	64	CAB39	G	4	4
CAB39	51719	broad.mit.edu	36	2	231391606	231391606	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231391606G>T	uc002vqx.1	+	c.969G>T	c.(967-969)AAG>AAT	p.K323N	CAB39_uc010fxq.1_Missense_Mutation_p.K323N|CAB39_uc010fxr.1_Missense_Mutation_p.K323N|CAB39_uc002vqy.1_Missense_Mutation_p.K78N	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	calcium binding protein 39	323					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)	1		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)												0.293478	61.977719	65.497396	27	65	GG		KEEP	---	---	---	---	capture		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	Missense_Mutation	SNP	231391606	231391606	2641	2	G	T	T	33	33	CAB39	T	3	3
ITM2C	81618	broad.mit.edu	36	2	231446504	231446504	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231446504C>A	uc002vqz.1	+	c.249C>A	c.(247-249)TTC>TTA	p.F83L	ITM2C_uc002vra.1_Intron|ITM2C_uc002vrb.1_Missense_Mutation_p.F83L|ITM2C_uc002vrc.1_5'Flank|ITM2C_uc002vrd.1_5'Flank	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	83					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)												0.228571	32.562856	37.295655	16	54	CC		KEEP	---	---	---	---	capture		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	Missense_Mutation	SNP	231446504	231446504	8218	2	C	A	A	32	32	ITM2C	A	3	3
ITM2C	81618	broad.mit.edu	36	2	231451025	231451025	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231451025C>T	uc002vqz.1	+	c.771C>T	c.(769-771)TTC>TTT	p.F257F	ITM2C_uc002vra.1_Silent_p.F210F|ITM2C_uc002vrb.1_Silent_p.F220F|ITM2C_uc002vrc.1_Silent_p.F146F|ITM2C_uc002vrd.1_Silent_p.F109F	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	257					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)												0.561224	160.726039	161.045192	55	43	CC		KEEP	---	---	---	---	capture		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	Silent	SNP	231451025	231451025	8218	2	C	T	T	31	31	ITM2C	T	1	1
HTR2B	3357	broad.mit.edu	36	2	231681664	231681664	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231681664A>G	uc002vro.1	-	c.1257T>C	c.(1255-1257)AAT>AAC	p.N419N	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.1_Silent_p.N352N	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	419	Cytoplasmic (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)			Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	Ovarian(155;1331 1891 12853 14038 34991)								0.284615	110.027413	115.437011	37	93	AA		KEEP	---	---	---	---	capture		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Silent	SNP	231681664	231681664	7742	2	A	G	G	12	12	HTR2B	G	4	4
PSMD1	5707	broad.mit.edu	36	2	231726593	231726593	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231726593C>T	uc002vrn.1	+	c.2187C>T	c.(2185-2187)GGC>GGT	p.G729G	PSMD1_uc002vrm.1_Silent_p.G729G|PSMD1_uc010fxu.1_Silent_p.G593G	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	729	PC 10.				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)	1		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)			Bortezomib(DB00188)									0.293706	102.505167	107.946292	42	101	CC		KEEP	---	---	---	---	capture		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Silent	SNP	231726593	231726593	13145	2	C	T	T	27	27	PSMD1	T	1	1
ARMC9	80210	broad.mit.edu	36	2	231855023	231855023	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231855023C>T	uc002vrq.2	+	c.1559C>T	c.(1558-1560)CCG>CTG	p.P520L	ARMC9_uc002vrp.2_Missense_Mutation_p.P520L|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	520							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)												0.204255	110.167705	129.244248	48	187	CC		KEEP	---	---	---	---	capture		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	Missense_Mutation	SNP	231855023	231855023	976	2	C	T	T	23	23	ARMC9	T	1	1
B3GNT7	93010	broad.mit.edu	36	2	231971017	231971017	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231971017C>T	uc002vrs.1	+	c.343C>T	c.(343-345)CGC>TGC	p.R115C		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	115	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)												0.565217	74.286901	74.449524	26	20	CC		KEEP	---	---	---	---	capture		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	Missense_Mutation	SNP	231971017	231971017	1283	2	C	T	T	23	23	B3GNT7	T	1	1
NCL	4691	broad.mit.edu	36	2	232029041	232029041	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232029041C>A	uc002vru.1	-	c.1756G>T	c.(1756-1758)GAG>TAG	p.E586*	SNORA75_uc002vrv.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	586	RRM 4.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)												0.285714	62.239098	66.291995	28	70	CC		KEEP	---	---	---	---	capture		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	Nonsense_Mutation	SNP	232029041	232029041	10625	2	C	A	A	32	32	NCL	A	5	3
NMUR1	10316	broad.mit.edu	36	2	232101585	232101585	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232101585C>T	uc002vry.2	-	c.391G>A	c.(391-393)GTT>ATT	p.V131I		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	131	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			central_nervous_system(1)|pancreas(1)	2		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)												0.34507	118.513604	121.531768	49	93	CC		KEEP	---	---	---	---	capture		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	Missense_Mutation	SNP	232101585	232101585	10909	2	C	T	T	19	19	NMUR1	T	1	1
C2orf57	165100	broad.mit.edu	36	2	232166246	232166246	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232166246G>A	uc002vrz.1	+	c.340G>A	c.(340-342)GAC>AAC	p.D114N		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	114										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)												0.274725	119.97648	128.296788	50	132	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	Missense_Mutation	SNP	232166246	232166246	2266	2	G	A	A	33	33	C2orf57	A	2	2
PDE6D	5147	broad.mit.edu	36	2	232310168	232310168	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232310168G>A	uc002vse.1	-	c.344C>T	c.(343-345)TCC>TTC	p.S115F		NM_002601	NP_002592	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	115					regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)												0.253165	46.566879	50.934683	20	59	GG		KEEP	---	---	---	---	capture		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)	Missense_Mutation	SNP	232310168	232310168	12069	2	G	A	A	41	41	PDE6D	A	2	2
DIS3L2	129563	broad.mit.edu	36	2	232709519	232709519	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232709519G>A	uc010fxz.1	+	c.796G>A	c.(796-798)GCC>ACC	p.A266T	DIS3L2_uc002vsm.2_Non-coding_Transcript|DIS3L2_uc002vso.2_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	266							exonuclease activity|ribonuclease activity|RNA binding			breast(1)|central_nervous_system(1)	2		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)												0.541935	471.97436	472.445592	168	142	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	Missense_Mutation	SNP	232709519	232709519	4716	2	G	A	A	38	38	DIS3L2	A	1	1
DIS3L2	129563	broad.mit.edu	36	2	232907657	232907657	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232907657C>T	uc010fxz.1	+	c.2362C>T	c.(2362-2364)CGC>TGC	p.R788C	DIS3L2_uc002vsm.2_Non-coding_Transcript|DIS3L2_uc002vso.2_Non-coding_Transcript|DIS3L2_uc002vsp.1_5'Flank	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	788							exonuclease activity|ribonuclease activity|RNA binding			breast(1)|central_nervous_system(1)	2		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)												0.521739	34.699453	34.708865	12	11	CC		KEEP	---	---	---	---	capture		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	Missense_Mutation	SNP	232907657	232907657	4716	2	C	T	T	27	27	DIS3L2	T	1	1
ALPP	250	broad.mit.edu	36	2	232951975	232951975	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232951975G>T	uc002vsq.1	+	c.127G>T	c.(127-129)GGT>TGT	p.G43C	ALPP_uc002vsr.1_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	43						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.280255	97.457125	104.260795	44	113	GG		KEEP	---	---	---	---	capture		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Missense_Mutation	SNP	232951975	232951975	551	2	G	T	T	43	43	ALPP	T	3	3
ALPP	250	broad.mit.edu	36	2	232954527	232954527	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232954527C>T	uc002vsq.1	+	c.1386C>T	c.(1384-1386)TTC>TTT	p.F462F	ALPP_uc002vsr.1_Non-coding_Transcript	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	462						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.333333	34.939536	35.970996	14	28	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Silent	SNP	232954527	232954527	551	2	C	T	T	31	31	ALPP	T	1	1
ALPI	248	broad.mit.edu	36	2	233030993	233030993	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233030993G>T	uc002vst.2	+	c.898G>T	c.(898-900)GAC>TAC	p.D300Y	ALPI_uc002vsu.2_Missense_Mutation_p.D211Y	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	300					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.485981	138.882889	138.901457	52	55	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Missense_Mutation	SNP	233030993	233030993	546	2	G	T	T	33	33	ALPI	T	3	3
ECEL1	9427	broad.mit.edu	36	2	233055877	233055877	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233055877T>C	uc002vsv.2	-	c.1613A>G	c.(1612-1614)AAC>AGC	p.N538S	ECEL1_uc010fya.1_Missense_Mutation_p.N538S|ECEL1_uc010fyb.1_Missense_Mutation_p.N245S	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	538	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.271429	284.186892	300.664281	95	255	TT		KEEP	---	---	---	---	capture		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Missense_Mutation	SNP	233055877	233055877	5078	2	T	C	C	60	60	ECEL1	C	4	4
CHRND	1144	broad.mit.edu	36	2	233108098	233108098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233108098G>A	uc002vsw.1	+	c.1386G>A	c.(1384-1386)TGG>TGA	p.W462*	CHRND_uc010fyc.1_Nonsense_Mutation_p.W335*	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	462	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.271889	143.416049	153.607951	59	158	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Nonsense_Mutation	SNP	233108098	233108098	3528	2	G	A	A	41	41	CHRND	A	5	2
CHRNG	1146	broad.mit.edu	36	2	233113564	233113564	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233113564C>T	uc002vsx.1	+	c.249C>T	c.(247-249)TGC>TGT	p.C83C	CHRNG_uc010fyd.1_Silent_p.C83C|CHRNG_uc010fye.1_Silent_p.C83C	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	83	Extracellular (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.5	55.366353	55.366353	21	21	CC		KEEP	---	---	---	---	capture		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Silent	SNP	233113564	233113564	3530	2	C	T	T	27	27	CHRNG	T	1	1
CHRNG	1146	broad.mit.edu	36	2	233114335	233114335	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233114335G>A	uc002vsx.1	+	c.358G>A	c.(358-360)GGT>AGT	p.G120S	CHRNG_uc010fyd.1_Missense_Mutation_p.G120S|CHRNG_uc010fye.1_Intron	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	120	Extracellular (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.256881	129.890382	141.585993	56	162	GG		KEEP	---	---	---	---	capture		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Missense_Mutation	SNP	233114335	233114335	3530	2	G	A	A	39	39	CHRNG	A	1	1
KCNJ13	3769	broad.mit.edu	36	2	233343912	233343912	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233343912G>A	uc002vto.2	-	c.405C>T	c.(403-405)ATC>ATT	p.I135I	GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.2_Intron|GIGYF2_uc002vti.2_Intron|GIGYF2_uc002vtk.2_Intron|GIGYF2_uc002vth.2_Intron|KCNJ13_uc002vtn.2_Intron|KCNJ13_uc002vtp.2_Silent_p.I135I	NM_002242	NP_002233	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel J13	135	Helical; Name=M2; (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity				0		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)												0.196078	39.942408	48.723873	20	82	GG		KEEP	---	---	---	---	capture		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	Silent	SNP	233343912	233343912	8352	2	G	A	A	37	37	KCNJ13	A	1	1
GIGYF2	26058	broad.mit.edu	36	2	233363798	233363798	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233363798G>A	uc002vtj.2	+	c.925G>A	c.(925-927)GAA>AAA	p.E309K	GIGYF2_uc002vtg.2_Missense_Mutation_p.E281K|GIGYF2_uc002vti.2_Missense_Mutation_p.E287K|GIGYF2_uc002vtk.2_Missense_Mutation_p.E287K|GIGYF2_uc002vth.2_Missense_Mutation_p.E281K	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform a	287					cell death		protein binding			ovary(4)|central_nervous_system(2)	6		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)												0.338403	233.186032	239.262928	89	174	GG		KEEP	---	---	---	---	capture		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	Missense_Mutation	SNP	233363798	233363798	6646	2	G	A	A	37	37	GIGYF2	A	1	1
GIGYF2	26058	broad.mit.edu	36	2	233429793	233429793	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233429793C>T	uc002vtj.2	+	c.3942C>T	c.(3940-3942)ATC>ATT	p.I1314I	GIGYF2_uc002vti.2_Silent_p.I1293I|GIGYF2_uc002vtk.2_Silent_p.I1293I|GIGYF2_uc002vth.2_Silent_p.I1287I|GIGYF2_uc002vtq.2_Silent_p.I626I	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform a	1293					cell death		protein binding			ovary(4)|central_nervous_system(2)	6		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)												0.308989	130.633936	136.43952	55	123	CC		KEEP	---	---	---	---	capture		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	Silent	SNP	233429793	233429793	6646	2	C	T	T	31	31	GIGYF2	T	1	1
NEU2	4759	broad.mit.edu	36	2	233605739	233605739	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233605739G>A	uc002vtu.1	+	c.114G>A	c.(112-114)GCG>GCA	p.A38A		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	38							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)												0.2	65.025239	76.739776	28	112	GG		KEEP	---	---	---	---	capture		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Silent	SNP	233605739	233605739	10741	2	G	A	A	39	39	NEU2	A	1	1
INPP5D	3635	broad.mit.edu	36	2	233652294	233652294	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233652294G>A	uc002vtv.1	+	c.140G>A	c.(139-141)CGG>CAG	p.R47Q	INPP5D_uc002vtw.1_Missense_Mutation_p.R47Q	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	47	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)				NSCLC(82;1215 1426 16163 20348 41018)				816				0.24359	44.08834	48.761678	19	59	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	Missense_Mutation	SNP	233652294	233652294	8057	2	G	A	A	39	39	INPP5D	A	1	1
INPP5D	3635	broad.mit.edu	36	2	233734426	233734426	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233734426G>T	uc002vtv.1	+	c.1144G>T	c.(1144-1146)GAA>TAA	p.E382*	INPP5D_uc002vtw.1_Nonsense_Mutation_p.E381*	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	382					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)				NSCLC(82;1215 1426 16163 20348 41018)				816				0.206897	9.92645	12.245654	6	23	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	Nonsense_Mutation	SNP	233734426	233734426	8057	2	G	T	T	33	33	INPP5D	T	5	3
ATG16L1	55054	broad.mit.edu	36	2	233863359	233863359	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233863359T>G	uc002vty.1	+	c.1324T>G	c.(1324-1326)TGC>GGC	p.C442G	ATG16L1_uc002vtx.1_Missense_Mutation_p.C279G|ATG16L1_uc002vtz.1_Missense_Mutation_p.C263G|ATG16L1_uc002vua.1_Missense_Mutation_p.C423G|ATG16L1_uc002vub.1_Missense_Mutation_p.C300G|ATG16L1_uc002vud.2_Missense_Mutation_p.C358G	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	442	WD 3.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)												0.364407	132.893871	134.801893	43	75	TT		KEEP	---	---	---	---	capture		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	Missense_Mutation	SNP	233863359	233863359	1110	2	T	G	G	55	55	ATG16L1	G	4	4
SAG	6295	broad.mit.edu	36	2	233905095	233905095	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233905095G>A	uc002vuh.2	+	c.804G>A	c.(802-804)GCG>GCA	p.A268A		NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	268					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)												0.27907	27.779594	29.668903	12	31	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	233905095	233905095	14288	2	G	A	A	38	38	SAG	A	1	1
DGKD	8527	broad.mit.edu	36	2	234025400	234025400	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234025400G>A	uc002vui.1	+	c.2219G>A	c.(2218-2220)CGC>CAC	p.R740H	DGKD_uc002vuj.1_Missense_Mutation_p.R696H|DGKD_uc010fyh.1_Missense_Mutation_p.R607H|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	740					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)			Phosphatidylserine(DB00144)									0.224138	51.587827	59.709	26	90	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Missense_Mutation	SNP	234025400	234025400	4646	2	G	A	A	38	38	DGKD	A	1	1
USP40	55230	broad.mit.edu	36	2	234130395	234130395	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234130395G>A	uc002vum.1	-	c.184C>T	c.(184-186)CAA>TAA	p.Q62*		NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin specific protease 40	131					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)												0.304813	136.498404	142.858598	57	130	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	Nonsense_Mutation	SNP	234130395	234130395	17636	2	G	A	A	46	46	USP40	A	5	2
UGT1A9	54600	broad.mit.edu	36	2	234245824	234245824	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234245824G>A	uc002vus.1	+	c.505G>A	c.(505-507)GCC>ACC	p.A169T	UGT1A8_uc002vup.1_Intron|UGT1A10_uc002vuq.2_Intron|UGT1A10_uc002vur.1_Intron	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	169					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|retinoic acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)	4		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)			Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)									0.272237	232.686406	250.061208	101	270	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Missense_Mutation	SNP	234245824	234245824	17510	2	G	A	A	38	38	UGT1A9	A	1	1
UGT1A7	54577	broad.mit.edu	36	2	234255524	234255524	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234255524A>C	uc002vut.1	+	c.202A>C	c.(202-204)AGA>CGA	p.R68R	UGT1A8_uc002vup.1_Intron|UGT1A10_uc002vuq.2_Intron|UGT1A10_uc002vur.1_Intron|UGT1A9_uc002vus.1_Intron	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN	UDP glycosyltransferase 1 family, polypeptide A7	68					coumarin metabolic process|drug metabolic process|excretion|flavone metabolic process|negative regulation of fatty acid metabolic process|retinoic acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)												0.355731	260.170067	264.813106	90	163	AA		KEEP	---	---	---	---	capture		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Silent	SNP	234255524	234255524	17508	2	A	C	C	3	3	UGT1A7	C	4	4
UGT1A5	54579	broad.mit.edu	36	2	234286673	234286673	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234286673G>A	uc002vuw.1	+	c.297G>A	c.(295-297)TCG>TCA	p.S99S	UGT1A8_uc002vup.1_Intron|UGT1A10_uc002vuq.2_Intron|UGT1A10_uc002vur.1_Intron|UGT1A9_uc002vus.1_Intron|UGT1A7_uc002vut.1_Intron|UGT1A6_uc002vuu.1_Intron|UGT1A6_uc002vuv.2_Intron	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	99					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)												0.323144	186.504833	192.846148	74	155	GG		KEEP	---	---	---	---	capture		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	Silent	SNP	234286673	234286673	17506	2	G	A	A	40	40	UGT1A5	A	1	1
UGT1A5	54579	broad.mit.edu	36	2	234287114	234287114	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234287114G>T	uc002vuw.1	+	c.738G>T	c.(736-738)GTG>GTT	p.V246V	UGT1A8_uc002vup.1_Intron|UGT1A10_uc002vuq.2_Intron|UGT1A10_uc002vur.1_Intron|UGT1A9_uc002vus.1_Intron|UGT1A7_uc002vut.1_Intron|UGT1A6_uc002vuu.1_Intron|UGT1A6_uc002vuv.2_Intron	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	246					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)												0.525943	649.259235	649.510932	223	201	GG		KEEP	---	---	---	---	capture		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	Silent	SNP	234287114	234287114	17506	2	G	T	T	47	47	UGT1A5	T	3	3
UGT1A5	54579	broad.mit.edu	36	2	234287180	234287180	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234287180G>A	uc002vuw.1	+	c.804G>A	c.(802-804)CCG>CCA	p.P268P	UGT1A8_uc002vup.1_Intron|UGT1A10_uc002vuq.2_Intron|UGT1A10_uc002vur.1_Intron|UGT1A9_uc002vus.1_Intron|UGT1A7_uc002vut.1_Intron|UGT1A6_uc002vuu.1_Intron|UGT1A6_uc002vuv.2_Intron	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	268					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)												0.256494	185.047906	201.566346	79	229	GG		KEEP	---	---	---	---	capture		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	Silent	SNP	234287180	234287180	17506	2	G	A	A	37	37	UGT1A5	A	1	1
UGT1A5	54579	broad.mit.edu	36	2	234341644	234341644	+	Missense_Mutation	SNP	C	T	T	rs72551353	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234341644C>T	uc002vuw.1	+	c.1127C>T	c.(1126-1128)TCC>TTC	p.S376F	UGT1A8_uc002vup.1_Missense_Mutation_p.S372F|UGT1A10_uc002vuq.2_Missense_Mutation_p.S372F|UGT1A10_uc002vur.1_Missense_Mutation_p.S372F|UGT1A9_uc002vus.1_Missense_Mutation_p.S372F|UGT1A7_uc002vut.1_Missense_Mutation_p.S372F|UGT1A6_uc002vuu.1_Missense_Mutation_p.S107F|UGT1A6_uc002vuv.2_Missense_Mutation_p.S374F|UGT1A4_uc002vux.1_Missense_Mutation_p.S376F|UGT1A3_uc002vuy.1_Missense_Mutation_p.S376F|UGT1A10_uc002vva.1_Non-coding_Transcript|UGT1A1_uc002vvb.1_Missense_Mutation_p.S375F	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	376					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)												0.274286	119.619203	127.654156	48	127	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	Missense_Mutation	SNP	234341644	234341644	17506	2	C	T	T	30	30	UGT1A5	T	2	2
TRPM8	79054	broad.mit.edu	36	2	234534205	234534205	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234534205G>T	uc002vvh.1	+	c.1409G>T	c.(1408-1410)AGA>ATA	p.R470I	TRPM8_uc010fyj.1_Missense_Mutation_p.R158I	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	470	Cytoplasmic (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)			Menthol(DB00825)					505				0.244318	90.225452	100.721378	43	133	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Missense_Mutation	SNP	234534205	234534205	17143	2	G	T	T	33	33	TRPM8	T	3	3
TRPM8	79054	broad.mit.edu	36	2	234559078	234559078	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234559078G>A	uc002vvh.1	+	c.2769G>A	c.(2767-2769)ACG>ACA	p.T923T	TRPM8_uc010fyj.1_Silent_p.T501T|TRPM8_uc010fyk.1_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	923	Extracellular (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)			Menthol(DB00825)					505				0.257895	112.689076	122.781943	49	141	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Silent	SNP	234559078	234559078	17143	2	G	A	A	40	40	TRPM8	A	1	1
TRPM8	79054	broad.mit.edu	36	2	234580305	234580305	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234580305T>C	uc002vvh.1	+	c.3200T>C	c.(3199-3201)ATC>ACC	p.I1067T	TRPM8_uc010fyj.1_Missense_Mutation_p.I645T|TRPM8_uc010fyk.1_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	1067	Cytoplasmic (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)			Menthol(DB00825)					505				0.329268	81.800571	83.917711	27	55	TT		KEEP	---	---	---	---	capture		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Missense_Mutation	SNP	234580305	234580305	17143	2	T	C	C	50	50	TRPM8	C	4	4
SH3BP4	23677	broad.mit.edu	36	2	235626038	235626038	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:235626038C>T	uc002vvp.1	+	c.2572C>T	c.(2572-2574)CGG>TGG	p.R858W	SH3BP4_uc010fym.1_Missense_Mutation_p.R840W|SH3BP4_uc002vvq.1_Missense_Mutation_p.R858W	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	858					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			ovary(1)|skin(1)	2		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)												0.526316	25.670996	25.684991	10	9	CC		KEEP	---	---	---	---	capture		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	Missense_Mutation	SNP	235626038	235626038	14737	2	C	T	T	27	27	SH3BP4	T	1	1
SH3BP4	23677	broad.mit.edu	36	2	235627099	235627099	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:235627099G>A	uc002vvp.1	+	c.2792G>A	c.(2791-2793)CGC>CAC	p.R931H	SH3BP4_uc010fym.1_Missense_Mutation_p.R913H|SH3BP4_uc002vvq.1_Missense_Mutation_p.R931H	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	931					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			ovary(1)|skin(1)	2		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)												0.536585	513.903769	514.28511	176	152	GG		KEEP	---	---	---	---	capture		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	Missense_Mutation	SNP	235627099	235627099	14737	2	G	A	A	38	38	SH3BP4	A	1	1
IQCA1	79781	broad.mit.edu	36	2	236898155	236898155	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:236898155G>A	uc002vvz.1	-	c.2384C>T	c.(2383-2385)GCC>GTC	p.A795V	IQCA1_uc002vwa.1_Non-coding_Transcript	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	795							ATP binding			ovary(1)	1														0.272727	14.23881	15.264187	6	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	236898155	236898155	8103	2	G	A	A	42	42	IQCA1	A	2	2
IQCA1	79781	broad.mit.edu	36	2	236911665	236911665	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:236911665C>T	uc002vvz.1	-	c.2056G>A	c.(2056-2058)GAT>AAT	p.D686N	IQCA1_uc002vwa.1_Non-coding_Transcript	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	686							ATP binding			ovary(1)	1														0.241379	48.028495	53.339561	21	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	236911665	236911665	8103	2	C	T	T	31	31	IQCA1	T	1	1
IQCA1	79781	broad.mit.edu	36	2	237067164	237067164	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237067164C>A	uc002vvz.1	-	c.442G>T	c.(442-444)GAT>TAT	p.D148Y	IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc002vwb.1_Missense_Mutation_p.D155Y	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	148							ATP binding			ovary(1)	1														0.272727	26.976233	29.028053	12	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	237067164	237067164	8103	2	C	A	A	32	32	IQCA1	A	3	3
IQCA1	79781	broad.mit.edu	36	2	237070870	237070870	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237070870C>A	uc002vvz.1	-	c.12_splice	c.e2-1	p.A4_splice	IQCA1_uc002vwa.1_Splice_Site_SNP|IQCA1_uc002vwb.1_Splice_Site_SNP_p.R11_splice	NM_024726	NP_079002			IQ motif containing with AAA domain 1								ATP binding			ovary(1)	1														0.230769	18.851459	21.445149	9	30	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	237070870	237070870	8103	2	C	A	A	32	32	IQCA1	A	5	3
CXCR7	57007	broad.mit.edu	36	2	237153889	237153889	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237153889C>A	uc010fyq.1	+	c.42C>A	c.(40-42)TTC>TTA	p.F14L	CXCR7_uc002vwd.1_Missense_Mutation_p.F14L|CXCR7_uc010fyr.1_Missense_Mutation_p.F14L	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	14	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)								49				0.276596	57.699104	61.929919	26	68	CC		KEEP	---	---	---	---	capture		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)	Missense_Mutation	SNP	237153889	237153889	4256	2	C	A	A	32	32	CXCR7	A	3	3
COPS8	10920	broad.mit.edu	36	2	237663376	237663376	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237663376G>T	uc002vwh.1	+	c.331G>T	c.(331-333)GAT>TAT	p.D111Y	COPS8_uc010fys.1_Non-coding_Transcript|COPS8_uc002vwg.1_Missense_Mutation_p.D62Y|COPS8_uc002vwi.1_Missense_Mutation_p.D111Y	NM_006710	NP_937832	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8 isoform 1	111	PCI.					cytoplasm|signalosome				ovary(1)	1		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)												0.285714	76.241917	80.865547	32	80	GG		KEEP	---	---	---	---	capture		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)	Missense_Mutation	SNP	237663376	237663376	3878	2	G	T	T	35	35	COPS8	T	3	3
COL6A3	1293	broad.mit.edu	36	2	237909546	237909546	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237909546G>A	uc002vwl.2	-	c.8936C>T	c.(8935-8937)GCC>GTC	p.A2979V	COL6A3_uc002vwj.2_Missense_Mutation_p.A360V|COL6A3_uc002vwk.2_Missense_Mutation_p.A2812V|COL6A3_uc002vwm.2_Missense_Mutation_p.A2778V|COL6A3_uc002vwn.2_Missense_Mutation_p.A2779V|COL6A3_uc002vwo.2_Missense_Mutation_p.A2773V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2979	Nonhelical region.|Ala-rich.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		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)												0.527027	100.696793	100.743709	39	35	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	237909546	237909546	3839	2	G	A	A	42	42	COL6A3	A	2	2
COL6A3	1293	broad.mit.edu	36	2	237915497	237915497	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237915497C>T	uc002vwl.2	-	c.7715G>A	c.(7714-7716)AGA>AAA	p.R2572K	COL6A3_uc002vwj.2_5'UTR|COL6A3_uc002vwk.2_Missense_Mutation_p.R2405K|COL6A3_uc002vwm.2_Missense_Mutation_p.R2371K|COL6A3_uc002vwn.2_Missense_Mutation_p.R2372K|COL6A3_uc002vwo.2_Missense_Mutation_p.R2366K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2572	VWFA 11.|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)|pancreas(1)	15		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)												0.323077	56.84996	58.657557	21	44	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	237915497	237915497	3839	2	C	T	T	32	32	COL6A3	T	2	2
COL6A3	1293	broad.mit.edu	36	2	237918224	237918224	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237918224C>T	uc002vwl.2	-	c.7176G>A	c.(7174-7176)GGG>GGA	p.G2392G	COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwk.2_Silent_p.G2225G|COL6A3_uc002vwm.2_Silent_p.G2191G|COL6A3_uc002vwn.2_Silent_p.G2192G|COL6A3_uc002vwo.2_Silent_p.G2186G|COL6A3_uc002vwp.1_Silent_p.G213G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2392	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)|pancreas(1)	15		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)												0.603448	314.129027	315.775985	105	69	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	237918224	237918224	3839	2	C	T	T	26	26	COL6A3	T	2	2
COL6A3	1293	broad.mit.edu	36	2	237939191	237939191	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237939191C>A	uc002vwl.2	-	c.5727G>T	c.(5725-5727)GAG>GAT	p.E1909D	COL6A3_uc002vwk.2_Missense_Mutation_p.E1742D|COL6A3_uc002vwm.2_Missense_Mutation_p.E1708D|COL6A3_uc002vwn.2_Missense_Mutation_p.E1709D|COL6A3_uc002vwo.2_Missense_Mutation_p.E1703D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1909	VWFA 10.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		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)												0.275168	87.583134	94.387746	41	108	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	237939191	237939191	3839	2	C	A	A	32	32	COL6A3	A	3	3
COL6A3	1293	broad.mit.edu	36	2	237940305	237940305	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237940305G>A	uc002vwl.2	-	c.5264C>T	c.(5263-5265)TCG>TTG	p.S1755L	COL6A3_uc002vwk.2_Missense_Mutation_p.S1588L|COL6A3_uc002vwm.2_Missense_Mutation_p.S1554L|COL6A3_uc002vwn.2_Missense_Mutation_p.S1555L|COL6A3_uc002vwo.2_Missense_Mutation_p.S1549L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1755	VWFA 9.|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)|pancreas(1)	15		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)												0.577465	238.455095	239.197775	82	60	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	237940305	237940305	3839	2	G	A	A	37	37	COL6A3	A	1	1
COL6A3	1293	broad.mit.edu	36	2	237940661	237940661	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237940661C>T	uc002vwl.2	-	c.4908G>A	c.(4906-4908)AAG>AAA	p.K1636K	COL6A3_uc002vwk.2_Silent_p.K1469K|COL6A3_uc002vwm.2_Silent_p.K1435K|COL6A3_uc002vwn.2_Silent_p.K1436K|COL6A3_uc002vwo.2_Silent_p.K1430K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1636	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)|pancreas(1)	15		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)												0.364865	77.317989	78.501177	27	47	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	237940661	237940661	3839	2	C	T	T	32	32	COL6A3	T	2	2
COL6A3	1293	broad.mit.edu	36	2	237950418	237950418	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237950418T>C	uc002vwl.2	-	c.2806A>G	c.(2806-2808)ATC>GTC	p.I936V	COL6A3_uc002vwk.2_Missense_Mutation_p.I936V|COL6A3_uc002vwm.2_Missense_Mutation_p.I735V|COL6A3_uc002vwn.2_Missense_Mutation_p.I736V|COL6A3_uc002vwo.2_Missense_Mutation_p.I730V|COL6A3_uc002vwq.2_Missense_Mutation_p.I730V|COL6A3_uc002vwr.2_Missense_Mutation_p.I529V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	936	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		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)												0.268116	106.442876	113.210834	37	101	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	237950418	237950418	3839	2	T	C	C	50	50	COL6A3	C	4	4
COL6A3	1293	broad.mit.edu	36	2	237950580	237950580	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237950580C>T	uc002vwl.2	-	c.2644G>A	c.(2644-2646)GAT>AAT	p.D882N	COL6A3_uc002vwk.2_Missense_Mutation_p.D882N|COL6A3_uc002vwm.2_Missense_Mutation_p.D681N|COL6A3_uc002vwn.2_Missense_Mutation_p.D682N|COL6A3_uc002vwo.2_Missense_Mutation_p.D676N|COL6A3_uc002vwq.2_Missense_Mutation_p.D676N|COL6A3_uc002vwr.2_Missense_Mutation_p.D475N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	882	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		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)												0.537931	227.543244	227.723499	78	67	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	237950580	237950580	3839	2	C	T	T	31	31	COL6A3	T	1	1
COL6A3	1293	broad.mit.edu	36	2	237952393	237952393	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237952393G>T	uc002vwl.2	-	c.2122C>A	c.(2122-2124)CAG>AAG	p.Q708K	COL6A3_uc002vwk.2_Missense_Mutation_p.Q708K|COL6A3_uc002vwm.2_Missense_Mutation_p.Q507K|COL6A3_uc002vwn.2_Intron|COL6A3_uc002vwo.2_Missense_Mutation_p.Q502K|COL6A3_uc002vwq.2_Missense_Mutation_p.Q502K|COL6A3_uc002vwr.2_Missense_Mutation_p.Q301K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	708	VWFA 4.|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)|pancreas(1)	15		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)												0.337662	69.324842	71.120185	26	51	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	237952393	237952393	3839	2	G	T	T	46	46	COL6A3	T	3	3
COL6A3	1293	broad.mit.edu	36	2	237954408	237954408	+	Missense_Mutation	SNP	C	T	T	rs34934127	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237954408C>T	uc002vwl.2	-	c.1786G>A	c.(1786-1788)GCT>ACT	p.A596T	COL6A3_uc002vwk.2_Missense_Mutation_p.A596T|COL6A3_uc002vwm.2_Missense_Mutation_p.A395T|COL6A3_uc002vwn.2_Missense_Mutation_p.A596T|COL6A3_uc002vwo.2_Missense_Mutation_p.A390T|COL6A3_uc002vwq.2_Missense_Mutation_p.A390T|COL6A3_uc002vwr.2_Missense_Mutation_p.A189T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	596	VWFA 3.|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)|pancreas(1)	15		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)												0.623853	191.818221	193.29301	68	41	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	237954408	237954408	3839	2	C	T	T	27	27	COL6A3	T	1	1
PRLH	51052	broad.mit.edu	36	2	238140452	238140452	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238140452C>T	uc002vwy.1	+	c.159C>T	c.(157-159)TTC>TTT	p.F53F		NM_015893	NP_056977	P81277	PRRP_HUMAN	prolactin releasing hormone	53						extracellular region					0		Lung NSC(271;0.142)|all_lung(227;0.175)												0.551402	167.811641	168.056171	59	48	CC		KEEP	---	---	---	---	capture		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)	Silent	SNP	238140452	238140452	12972	2	C	T	T	31	31	PRLH	T	1	1
LRRFIP1	9208	broad.mit.edu	36	2	238337372	238337372	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238337372C>T	uc002vxe.1	+	c.2277C>T	c.(2275-2277)ACC>ACT	p.T759T	LRRFIP1_uc002vxc.1_Intron|LRRFIP1_uc002vxd.1_Silent_p.T735T|LRRFIP1_uc002vxf.1_Silent_p.T703T	NM_004735	NP_004726	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting	759					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding|transcription repressor activity			breast(3)	3		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)												0.345455	104.713468	107.034856	38	72	CC		KEEP	---	---	---	---	capture		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	Silent	SNP	238337372	238337372	9403	2	C	T	T	23	23	LRRFIP1	T	1	1
ATAD2B	54454	broad.mit.edu	36	2	23833908	23833908	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:23833908G>A	uc002rek.2	-	c.3962C>T	c.(3961-3963)TCG>TTG	p.S1321L	ATAD2B_uc002rei.2_Missense_Mutation_p.S561L|ATAD2B_uc002rej.2_Missense_Mutation_p.S489L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1321							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.212121	146.585128	171.858488	70	260	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23833908	23833908	1091	2	G	A	A	37	37	ATAD2B	A	1	1
RBM44	375316	broad.mit.edu	36	2	238391440	238391440	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238391440C>T	uc002vxh.1	+	c.1139C>T	c.(1138-1140)TCC>TTC	p.S380F		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	380							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)												0.233083	70.15389	78.831896	31	102	CC		KEEP	---	---	---	---	capture		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	Missense_Mutation	SNP	238391440	238391440	13600	2	C	T	T	30	30	RBM44	T	2	2
RBM44	375316	broad.mit.edu	36	2	238391932	238391932	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238391932C>A	uc002vxh.1	+	c.1631C>A	c.(1630-1632)TCT>TAT	p.S544Y	RBM44_uc002vxi.2_5'Flank	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	544							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)												0.52	36.572536	36.581075	13	12	CC		KEEP	---	---	---	---	capture		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	Missense_Mutation	SNP	238391932	238391932	13600	2	C	A	A	32	32	RBM44	A	3	3
RBM44	375316	broad.mit.edu	36	2	238397782	238397782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238397782G>A	uc002vxh.1	+	c.2430G>A	c.(2428-2430)TGG>TGA	p.W810*	RBM44_uc002vxi.2_Nonsense_Mutation_p.W110*	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	810							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)												0.325581	37.549151	38.702654	14	29	GG		KEEP	---	---	---	---	capture		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	Nonsense_Mutation	SNP	238397782	238397782	13600	2	G	A	A	41	41	RBM44	A	5	2
RBM44	375316	broad.mit.edu	36	2	238402661	238402661	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238402661G>T	uc002vxh.1	+	c.2663G>T	c.(2662-2664)GGG>GTG	p.G888V	RBM44_uc002vxi.2_Missense_Mutation_p.G188V	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	888	RRM.						nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)												0.278689	38.842486	41.534724	17	44	GG		KEEP	---	---	---	---	capture		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	Missense_Mutation	SNP	238402661	238402661	13600	2	G	T	T	43	43	RBM44	T	3	3
ESPNL	339768	broad.mit.edu	36	2	238681324	238681324	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238681324C>A	uc002vxq.2	+	c.826C>A	c.(826-828)CAC>AAC	p.H276N	ESPNL_uc010fyw.1_Missense_Mutation_p.H16N	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	276	ANK 9.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)												0.313725	39.175307	40.75377	16	35	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	Missense_Mutation	SNP	238681324	238681324	5448	2	C	A	A	21	21	ESPNL	A	3	3
ESPNL	339768	broad.mit.edu	36	2	238704825	238704825	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238704825G>A	uc002vxq.2	+	c.2731G>A	c.(2731-2733)GGC>AGC	p.G911S	ESPNL_uc010fyw.1_Missense_Mutation_p.G607S	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	911										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)												0.322581	21.022372	21.898191	10	21	GG		KEEP	---	---	---	---	capture		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	Missense_Mutation	SNP	238704825	238704825	5448	2	G	A	A	39	39	ESPNL	A	1	1
TRAF3IP1	26146	broad.mit.edu	36	2	238902078	238902078	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238902078G>A	uc002vye.1	+	c.367G>A	c.(367-369)GAT>AAT	p.D123N	TRAF3IP1_uc002vyf.1_Missense_Mutation_p.D123N	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	123	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)												0.161905	26.094987	37.537396	17	88	GG		KEEP	---	---	---	---	capture		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	Missense_Mutation	SNP	238902078	238902078	16984	2	G	A	A	37	37	TRAF3IP1	A	1	1
TRAF3IP1	26146	broad.mit.edu	36	2	238922218	238922218	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238922218T>A	uc002vye.1	+	c.1357T>A	c.(1357-1359)TCC>ACC	p.S453T	TRAF3IP1_uc002vyf.1_Missense_Mutation_p.S387T	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	453	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)												0.340782	161.617452	165.629284	61	118	TT		KEEP	---	---	---	---	capture		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	Missense_Mutation	SNP	238922218	238922218	16984	2	T	A	A	50	50	TRAF3IP1	A	4	4
ATAD2B	54454	broad.mit.edu	36	2	23899929	23899929	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:23899929C>T	uc002rek.2	-	c.1834G>A	c.(1834-1836)GAT>AAT	p.D612N	ATAD2B_uc002rej.2_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	612							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.521008	178.445707	178.491155	62	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23899929	23899929	1091	2	C	T	T	31	31	ATAD2B	T	1	1
NDUFA10	4705	broad.mit.edu	36	2	240571714	240571714	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:240571714T>C	uc010fzc.1	-	c.1183A>G	c.(1183-1185)ACC>GCC	p.T395A	NDUFA10_uc002vyn.1_Intron	NM_004544	NP_004535	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	Error:Variant_position_missing_in_O95299_after_alignment					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			NADH(DB00157)									0.75	42.408187	43.317929	12	4	TT		KEEP	---	---	---	---	capture		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	Missense_Mutation	SNP	240571714	240571714	10659	2	T	C	C	58	58	NDUFA10	C	4	4
OR6B2	389090	broad.mit.edu	36	2	240618448	240618448	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:240618448C>T	uc002vyr.2	-	c.72G>A	c.(70-72)CAG>CAA	p.Q24Q	OR6B2_uc002vyq.2_Silent_p.Q24Q	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)												0.310924	98.426539	102.218208	37	82	CC		KEEP	---	---	---	---	capture		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	Silent	SNP	240618448	240618448	11598	2	C	T	T	20	20	OR6B2	T	2	2
OTOS	150677	broad.mit.edu	36	2	240727327	240727327	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:240727327C>T	uc002vyv.1	-	c.203G>A	c.(202-204)CGA>CAA	p.R68Q	MYEOV2_uc002vyu.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	otospiralin	68						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)												0.568862	275.712644	276.400068	95	72	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	240727327	240727327	11721	2	C	T	T	31	31	OTOS	T	1	1
MFSD2B	388931	broad.mit.edu	36	2	24098044	24098044	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24098044C>T	uc002reo.1	+	c.704C>T	c.(703-705)GCT>GTT	p.A235V		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	hypothetical protein LOC388931	235	Helical; (Potential).				transport	integral to membrane				ovary(2)	2														0.233333	15.50777	17.462181	7	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24098044	24098044	9921	2	C	T	T	28	28	MFSD2B	T	2	2
C2orf44	80304	broad.mit.edu	36	2	24107442	24107442	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24107442C>T	uc002rep.1	-	c.2031G>A	c.(2029-2031)CTG>CTA	p.L677L	C2orf44_uc010eya.1_3'UTR	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	677							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.347107	103.899366	106.402528	42	79	CC		KEEP	---	---	---	---	capture			Silent	SNP	24107442	24107442	2256	2	C	T	T	17	17	C2orf44	T	2	2
ANKMY1	51281	broad.mit.edu	36	2	241112142	241112142	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241112142C>T	uc010fzd.1	-	c.1665G>A	c.(1663-1665)ACG>ACA	p.T555T	ANKMY1_uc002vyz.1_Silent_p.T466T|ANKMY1_uc002vza.1_Silent_p.T325T|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Silent_p.T325T|ANKMY1_uc002vzd.1_Silent_p.T325T|ANKMY1_uc010fze.1_Silent_p.T135T|ANKMY1_uc002vze.2_Silent_p.T227T	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	466							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.295082	130.372129	137.25221	54	129	CC		KEEP	---	---	---	---	capture		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	Silent	SNP	241112142	241112142	637	2	C	T	T	31	31	ANKMY1	T	1	1
ANKMY1	51281	broad.mit.edu	36	2	241117561	241117561	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241117561G>A	uc010fzd.1	-	c.519C>T	c.(517-519)GTC>GTT	p.V173V	ANKMY1_uc002vyz.1_Silent_p.V84V|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	84	MORN 3.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.619048	113.536444	114.322254	39	24	GG		KEEP	---	---	---	---	capture		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	Silent	SNP	241117561	241117561	637	2	G	A	A	37	37	ANKMY1	A	1	1
RNPEPL1	57140	broad.mit.edu	36	2	241162316	241162316	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241162316T>C	uc002vzi.1	+	c.359T>C	c.(358-360)GTC>GCC	p.V120A	RNPEPL1_uc010fzf.1_5'UTR|RNPEPL1_uc002vzj.1_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	120					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)												0.55	220.08043	220.335407	66	54	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	241162316	241162316	13989	2	T	C	C	58	58	RNPEPL1	C	4	4
RNPEPL1	57140	broad.mit.edu	36	2	241163160	241163160	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241163160G>T	uc002vzi.1	+	c.636G>T	c.(634-636)GAG>GAT	p.E212D	RNPEPL1_uc010fzf.1_Missense_Mutation_p.E118D|RNPEPL1_uc002vzj.1_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	212					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)												0.240157	127.936938	143.60271	61	193	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	241163160	241163160	13989	2	G	T	T	33	33	RNPEPL1	T	3	3
GPR35	2859	broad.mit.edu	36	2	241218720	241218720	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241218720C>T	uc010fzh.1	+	c.771C>T	c.(769-771)TTC>TTT	p.F257F	GPR35_uc010fzi.1_Silent_p.F226F|GPR35_uc002vzs.1_Silent_p.F226F	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	226	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			pancreas(1)|skin(1)	2		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)												0.380952	103.852904	105.164991	40	65	CC		KEEP	---	---	---	---	capture		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	Silent	SNP	241218720	241218720	6965	2	C	T	T	31	31	GPR35	T	1	1
KIF1A	547	broad.mit.edu	36	2	241309090	241309090	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241309090C>T	uc010fzk.1	-	c.4782G>A	c.(4780-4782)TCG>TCA	p.S1594S	KIF1A_uc002vzw.1_Silent_p.S154S|KIF1A_uc002vzx.1_Silent_p.S220S|KIF1A_uc002vzy.1_Silent_p.S1493S	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1493					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.290323	20.960532	22.183212	9	22	CC		KEEP	---	---	---	---	capture		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	Silent	SNP	241309090	241309090	8594	2	C	T	T	31	31	KIF1A	T	1	1
KIF1A	547	broad.mit.edu	36	2	241359111	241359111	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241359111C>T	uc010fzk.1	-	c.1291G>A	c.(1291-1293)GAG>AAG	p.E431K	KIF1A_uc002vzy.1_Missense_Mutation_p.E422K|KIF1A_uc002vzz.1_Missense_Mutation_p.E431K	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	422					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.171429	30.888407	41.60486	18	87	CC		KEEP	---	---	---	---	capture		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	Missense_Mutation	SNP	241359111	241359111	8594	2	C	T	T	31	31	KIF1A	T	1	1
KIF1A	547	broad.mit.edu	36	2	241373141	241373141	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241373141C>T	uc010fzk.1	-	c.658G>A	c.(658-660)GTC>ATC	p.V220I	KIF1A_uc002vzy.1_Missense_Mutation_p.V220I|KIF1A_uc002vzz.1_Missense_Mutation_p.V220I	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	220	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.569767	409.094479	410.185478	147	111	CC		KEEP	---	---	---	---	capture		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	Missense_Mutation	SNP	241373141	241373141	8594	2	C	T	T	19	19	KIF1A	T	1	1
C2orf54	79919	broad.mit.edu	36	2	241479730	241479730	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241479730G>A	uc002wae.2	-	c.638C>T	c.(637-639)GCC>GTC	p.A213V	C2orf54_uc002wac.1_Missense_Mutation_p.A45V|C2orf54_uc002wad.1_Missense_Mutation_p.A64V	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	hypothetical protein LOC79919 isoform 1	213											0		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.269231	82.347367	88.54714	35	95	GG		KEEP	---	---	---	---	capture		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Missense_Mutation	SNP	241479730	241479730	2263	2	G	A	A	42	42	C2orf54	A	2	2
C2orf54	79919	broad.mit.edu	36	2	241483724	241483724	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241483724G>A	uc002wae.2	-	c.364C>T	c.(364-366)CGG>TGG	p.R122W		NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	hypothetical protein LOC79919 isoform 1	122											0		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.289855	45.709291	48.419448	20	49	GG		KEEP	---	---	---	---	capture		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Missense_Mutation	SNP	241483724	241483724	2263	2	G	A	A	38	38	C2orf54	A	1	1
TP53I3	9540	broad.mit.edu	36	2	24154074	24154074	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24154074C>T	uc002rey.1	-	c.878G>A	c.(877-879)GGC>GAC	p.G293D	SF3B14_uc002rev.1_5'Flank|SF3B14_uc010eyb.1_5'Flank|TP53I3_uc002rex.1_Silent_p.G227G|TP53I3_uc002rez.1_Missense_Mutation_p.G293D	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	293					induction of apoptosis by oxidative stress|NADP metabolic process|oxidation-reduction process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.440217	212.7251	213.278804	81	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24154074	24154074	16929	2	C	T	T	26	26	TP53I3	T	2	2
TP53I3	9540	broad.mit.edu	36	2	24157316	24157316	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24157316C>T	uc002rey.1	-	c.496G>A	c.(496-498)GCT>ACT	p.A166T	TP53I3_uc002rex.1_Missense_Mutation_p.A166T|TP53I3_uc002rez.1_Missense_Mutation_p.A166T	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	166					induction of apoptosis by oxidative stress|NADP metabolic process|oxidation-reduction process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.523517	773.656349	773.888221	256	233	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24157316	24157316	16929	2	C	T	T	28	28	TP53I3	T	2	2
SEPT2	4735	broad.mit.edu	36	2	241923235	241923235	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241923235C>T	uc002wbh.1	+	c.152C>T	c.(151-153)TCG>TTG	p.S51L	SEPT2_uc002wbc.1_Missense_Mutation_p.S51L|SEPT2_uc002wbd.1_Missense_Mutation_p.S51L|SEPT2_uc002wbf.1_Missense_Mutation_p.S51L|SEPT2_uc002wbg.1_Missense_Mutation_p.S51L	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	septin 2	51	GTP.				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(1)	1		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)												0.646154	127.658078	128.87935	42	23	CC		KEEP	---	---	---	---	capture		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	Missense_Mutation	SNP	241923235	241923235	14550	2	C	T	T	31	31	SEPT2	T	1	1
SEPT2	4735	broad.mit.edu	36	2	241938164	241938164	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241938164C>T	uc002wbh.1	+	c.1018C>T	c.(1018-1020)CGC>TGC	p.R340C	SEPT2_uc002wbc.1_Missense_Mutation_p.R330C|SEPT2_uc002wbd.1_Missense_Mutation_p.R330C|SEPT2_uc002wbf.1_Missense_Mutation_p.R330C|SEPT2_uc002wbg.1_Missense_Mutation_p.R330C	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	septin 2	330					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(1)	1		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)												0.6	88.933001	89.326585	27	18	CC		KEEP	---	---	---	---	capture		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	Missense_Mutation	SNP	241938164	241938164	14550	2	C	T	T	23	23	SEPT2	T	1	1
FARP2	9855	broad.mit.edu	36	2	242024597	242024597	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:242024597C>T	uc002wbi.1	+	c.1129C>T	c.(1129-1131)CGA>TGA	p.R377*		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	377					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)												0.518135	291.398892	291.454136	100	93	CC		KEEP	---	---	---	---	capture		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	Nonsense_Mutation	SNP	242024597	242024597	5913	2	C	T	T	31	31	FARP2	T	5	1
ITSN2	50618	broad.mit.edu	36	2	24334293	24334293	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24334293C>A	uc002rfe.1	-	c.2853G>T	c.(2851-2853)AAG>AAT	p.K951N	ITSN2_uc002rff.1_Missense_Mutation_p.K924N|ITSN2_uc002rfg.1_Missense_Mutation_p.K951N|ITSN2_uc002rfh.1_Non-coding_Transcript	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	952	SH3 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.276042	120.689237	129.363176	53	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24334293	24334293	8231	2	C	A	A	32	32	ITSN2	A	3	3
ITSN2	50618	broad.mit.edu	36	2	24377531	24377531	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24377531T>C	uc002rfe.1	-	c.1074A>G	c.(1072-1074)TTA>TTG	p.L358L	ITSN2_uc002rff.1_Silent_p.L358L|ITSN2_uc002rfg.1_Silent_p.L358L|ITSN2_uc010eyd.1_Silent_p.L384L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	359					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)													0.616352	345.493114	347.384218	98	61	TT		KEEP	---	---	---	---	capture			Silent	SNP	24377531	24377531	8231	2	T	C	C	57	57	ITSN2	C	4	4
NCOA1	8648	broad.mit.edu	36	2	24783462	24783462	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24783462C>A	uc002rfk.1	+	c.1619C>A	c.(1618-1620)TCT>TAT	p.S540Y	NCOA1_uc010eye.1_Missense_Mutation_p.S540Y|NCOA1_uc002rfi.1_Missense_Mutation_p.S389Y|NCOA1_uc002rfj.1_Missense_Mutation_p.S540Y|NCOA1_uc002rfl.1_Missense_Mutation_p.S540Y	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	540	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)									334				0.248062	67.721662	75.184816	32	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24783462	24783462	10627	2	C	A	A	32	32	NCOA1	A	3	3
NCOA1	8648	broad.mit.edu	36	2	24839149	24839149	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24839149G>T	uc002rfk.1	+	c.4155G>T	c.(4153-4155)CAG>CAT	p.Q1385H	NCOA1_uc010eye.1_Missense_Mutation_p.Q1385H|NCOA1_uc002rfi.1_Missense_Mutation_p.Q1234H|NCOA1_uc002rfj.1_Missense_Mutation_p.Q1385H|NCOA1_uc002rfl.1_Missense_Mutation_p.Q1385H|NCOA1_uc010eyf.1_Intron	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1385									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)									334				0.334495	245.585185	252.555384	96	191	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24839149	24839149	10627	2	G	T	T	35	35	NCOA1	T	3	3
C2orf79	391356	broad.mit.edu	36	2	24869648	24869648	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24869648G>T	uc002rfm.1	-	c.103C>A	c.(103-105)CTA>ATA	p.L35I	CENPO_uc002rfn.1_5'Flank|CENPO_uc002rfo.1_5'Flank|CENPO_uc002rfp.1_5'Flank|CENPO_uc002rfq.1_5'Flank	NM_001013663	NP_001013685	Q6GMV3	CB079_HUMAN	hypothetical protein LOC391356	35					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity				0														0.629808	369.123056	372.194504	131	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24869648	24869648	2286	2	G	T	T	33	33	C2orf79	T	3	3
ADCY3	109	broad.mit.edu	36	2	24914993	24914993	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24914993C>T	uc002rfs.2	-	c.1358G>A	c.(1357-1359)CGC>CAC	p.R453H	ADCY3_uc002rfr.2_Missense_Mutation_p.R86H	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	453	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)													0.540856	405.027975	405.400904	139	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24914993	24914993	296	2	C	T	T	27	27	ADCY3	T	1	1
DNMT3A	1788	broad.mit.edu	36	2	25316688	25316688	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25316688G>A	uc002rgc.1	-	c.2309C>T	c.(2308-2310)TCG>TTG	p.S770L	DNMT3A_uc002rgb.1_Missense_Mutation_p.S581L|DNMT3A_uc002rgd.1_Missense_Mutation_p.S770L|DNMT3A_uc010eyi.1_Non-coding_Transcript	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	770					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|protein binding|zinc ion binding	p.S770W(1)		haematopoietic_and_lymphoid_tissue(107)|ovary(3)	110	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.283019	180.11872	191.323745	75	190	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25316688	25316688	4859	2	G	A	A	37	37	DNMT3A	A	1	1
DNMT3A	1788	broad.mit.edu	36	2	25318041	25318041	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25318041C>T	uc002rgc.1	-	c.1976G>A	c.(1975-1977)CGC>CAC	p.R659H	DNMT3A_uc002rgb.1_Missense_Mutation_p.R470H|DNMT3A_uc002rgd.1_Missense_Mutation_p.R659H|DNMT3A_uc010eyi.1_Non-coding_Transcript	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	659					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(107)|ovary(3)	110	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.614035	102.230296	102.879104	35	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25318041	25318041	4859	2	C	T	T	27	27	DNMT3A	T	1	1
DTNB	1838	broad.mit.edu	36	2	25464690	25464690	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25464690G>A	uc002rgh.1	-	c.1620C>T	c.(1618-1620)GGC>GGT	p.G540G	DTNB_uc002rgg.1_Silent_p.G169G|DTNB_uc002rgi.1_Silent_p.G540G|DTNB_uc002rgj.1_Silent_p.G540G|DTNB_uc002rgk.1_Silent_p.G510G|DTNB_uc002rgl.1_Silent_p.G503G|DTNB_uc002rgm.1_Silent_p.G503G|DTNB_uc002rgn.1_Silent_p.G329G|DTNB_uc002rgo.1_Silent_p.G324G|DTNB_uc002rgq.1_Silent_p.G522G|DTNB_uc002rgp.1_Silent_p.G38G	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	540						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.215686	18.493959	22.306821	11	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	25464690	25464690	4974	2	G	A	A	38	38	DTNB	A	1	1
DTNB	1838	broad.mit.edu	36	2	25672614	25672614	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25672614C>A	uc002rgh.1	-	c.449_splice	c.e6-1	p.Y150_splice	DTNB_uc002rgi.1_Splice_Site_SNP_p.Y150_splice|DTNB_uc002rgj.1_Splice_Site_SNP_p.Y150_splice|DTNB_uc002rgk.1_Splice_Site_SNP_p.Y150_splice|DTNB_uc002rgl.1_Splice_Site_SNP_p.Y150_splice|DTNB_uc002rgm.1_Splice_Site_SNP_p.Y150_splice|DTNB_uc002rgn.1_Intron|DTNB_uc002rgo.1_Intron|DTNB_uc002rgq.1_Splice_Site_SNP_p.Y139_splice|DTNB_uc002rgr.1_Splice_Site_SNP_p.Y139_splice	NM_021907	NP_068707			dystrobrevin, beta isoform 1							cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.278351	62.569355	66.86694	27	70	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	25672614	25672614	4974	2	C	A	A	32	32	DTNB	A	5	3
ASXL2	55252	broad.mit.edu	36	2	25818838	25818838	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25818838G>T	uc002rgs.2	-	c.3872C>A	c.(3871-3873)TCT>TAT	p.S1291Y	ASXL2_uc002rgt.1_Missense_Mutation_p.S774Y	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1291					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)													0.209302	15.34245	18.717786	9	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25818838	25818838	1086	2	G	T	T	33	33	ASXL2	T	3	3
ASXL2	55252	broad.mit.edu	36	2	25820236	25820236	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25820236C>A	uc002rgs.2	-	c.2474G>T	c.(2473-2475)AGT>ATT	p.S825I	ASXL2_uc002rgt.1_Missense_Mutation_p.S565I	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	825					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)													0.501155	650.217002	650.217369	217	216	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25820236	25820236	1086	2	C	A	A	20	20	ASXL2	A	3	3
ASXL2	55252	broad.mit.edu	36	2	25832437	25832437	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25832437T>G	uc002rgs.2	-	c.990A>C	c.(988-990)GAA>GAC	p.E330D	ASXL2_uc002rgt.1_Missense_Mutation_p.E70D	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	330					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)													0.305419	190.891658	197.736956	62	141	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25832437	25832437	1086	2	T	G	G	52	52	ASXL2	G	4	4
KIF3C	3797	broad.mit.edu	36	2	26057084	26057084	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26057084G>A	uc002rgu.2	-	c.1207C>T	c.(1207-1209)CGG>TGG	p.R403W	KIF3C_uc010eyj.1_Non-coding_Transcript	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	403	Potential.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.294118	102.068734	107.843736	45	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26057084	26057084	8613	2	G	A	A	38	38	KIF3C	A	1	1
RAB10	10890	broad.mit.edu	36	2	26204319	26204319	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26204319C>T	uc002rgv.1	+	c.514C>T	c.(514-516)CGA>TGA	p.R172*		NM_016131	NP_057215	P61026	RAB10_HUMAN	ras-related GTP-binding protein RAB10	172					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.275862	117.024267	124.895597	48	126	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	26204319	26204319	13349	2	C	T	T	31	31	RAB10	T	5	1
HADHB	3032	broad.mit.edu	36	2	26346364	26346364	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26346364G>A	uc002rgz.1	+	c.249G>A	c.(247-249)GCG>GCA	p.A83A	HADHB_uc002rha.1_Silent_p.A83A	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	83					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.273333	95.618312	102.558803	41	109	GG		KEEP	---	---	---	---	capture			Silent	SNP	26346364	26346364	7226	2	G	A	A	38	38	HADHB	A	1	1
GPR113	165082	broad.mit.edu	36	2	26389871	26389871	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26389871C>T	uc002rhe.2	-	c.1351G>A	c.(1351-1353)GCC>ACC	p.A451T	GPR113_uc002rhb.1_Missense_Mutation_p.A54T|GPR113_uc010eyk.1_Missense_Mutation_p.A252T|GPR113_uc002rhc.1_Missense_Mutation_p.A54T|GPR113_uc002rhd.1_Non-coding_Transcript	NM_153835	NP_722577	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 3	451	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.346154	24.169339	24.711611	9	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26389871	26389871	6904	2	C	T	T	26	26	GPR113	T	2	2
C2orf39	92749	broad.mit.edu	36	2	26521151	26521151	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26521151G>A	uc002rhg.1	+	c.1227G>A	c.(1225-1227)GCG>GCA	p.A409A	C2orf39_uc010eym.1_Non-coding_Transcript	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	409											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.28169	46.668206	49.710692	20	51	GG		KEEP	---	---	---	---	capture			Silent	SNP	26521151	26521151	2252	2	G	A	A	37	37	C2orf39	A	1	1
C2orf39	92749	broad.mit.edu	36	2	26526427	26526427	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26526427C>T	uc002rhg.1	+	c.1569C>T	c.(1567-1569)TGC>TGT	p.C523C		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	523											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.304348	39.641361	41.207572	14	32	CC		KEEP	---	---	---	---	capture			Silent	SNP	26526427	26526427	2252	2	C	T	T	28	28	C2orf39	T	2	2
C2orf39	92749	broad.mit.edu	36	2	26531112	26531112	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26531112C>A	uc002rhg.1	+	c.2013C>A	c.(2011-2013)TCC>TCA	p.S671S		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	671											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.253333	81.458181	89.763794	38	112	CC		KEEP	---	---	---	---	capture			Silent	SNP	26531112	26531112	2252	2	C	A	A	24	24	C2orf39	A	3	3
OTOF	9381	broad.mit.edu	36	2	26543131	26543131	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26543131C>T	uc002rhk.1	-	c.4455G>A	c.(4453-4455)CCG>CCA	p.P1485P	OTOF_uc002rhh.1_Silent_p.P718P|OTOF_uc002rhi.1_Silent_p.P795P|OTOF_uc002rhj.1_Silent_p.P718P	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1485	Cytoplasmic (Potential).|C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GBM(102;732 1451 20652 24062 31372)								0.316129	122.106265	126.774388	49	106	CC		KEEP	---	---	---	---	capture			Silent	SNP	26543131	26543131	11715	2	C	T	T	31	31	OTOF	T	1	1
KCNK3	3777	broad.mit.edu	36	2	26804252	26804252	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26804252C>T	uc002rhn.1	+	c.497C>T	c.(496-498)TCG>TTG	p.S166L		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	166	Helical; (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GBM(80;1457 1631 27100 45946)								0.297297	53.620927	56.339948	22	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26804252	26804252	8372	2	C	T	T	31	31	KCNK3	T	1	1
DPYSL5	56896	broad.mit.edu	36	2	27018373	27018373	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27018373G>A	uc002rhu.2	+	c.1141G>A	c.(1141-1143)GCA>ACA	p.A381T	DPYSL5_uc002rhv.2_Missense_Mutation_p.A381T	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	381					axon guidance|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.278912	186.838544	199.759332	82	212	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27018373	27018373	4934	2	G	A	A	38	38	DPYSL5	A	1	1
EMILIN1	11117	broad.mit.edu	36	2	27160893	27160893	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27160893C>T	uc002rii.2	+	c.2547C>T	c.(2545-2547)ATC>ATT	p.I849I	EMILIN1_uc002rik.2_Silent_p.I84I|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	849	Collagen-like.|Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.217391	47.581504	56.093488	25	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	27160893	27160893	5285	2	C	T	T	31	31	EMILIN1	T	1	1
TCF23	150921	broad.mit.edu	36	2	27229108	27229108	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27229108G>A	uc002rjc.1	+	c.514G>A	c.(514-516)GAT>AAT	p.D172N		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	transcription factor 23	172					cell differentiation|muscle organ development	nucleus	transcription regulator activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.611111	191.260365	192.427852	66	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27229108	27229108	16218	2	G	A	A	37	37	TCF23	A	1	1
C2orf28	51374	broad.mit.edu	36	2	27292939	27292939	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27292939C>A	uc002rjf.1	+	c.697C>A	c.(697-699)CTT>ATT	p.L233I	C2orf28_uc002rjg.1_Missense_Mutation_p.L120I|C2orf28_uc002rjh.1_Non-coding_Transcript|CAD_uc002rji.1_5'Flank|CAD_uc010eyw.1_5'Flank	NM_080592	NP_057169	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	178	EGF-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.232609	216.873052	247.119031	107	353	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27292939	27292939	2248	2	C	A	A	32	32	C2orf28	A	3	3
CAD	790	broad.mit.edu	36	2	27298633	27298633	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27298633G>T	uc002rji.1	+	c.420G>T	c.(418-420)CAG>CAT	p.Q140H	CAD_uc010eyw.1_Missense_Mutation_p.Q140H	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	140	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|nuclear matrix	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)					653				0.65625	237.107249	239.861227	84	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27298633	27298633	2681	2	G	T	T	33	33	CAD	T	3	3
CAD	790	broad.mit.edu	36	2	27299279	27299279	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27299279G>A	uc002rji.1	+	c.679G>A	c.(679-681)GCC>ACC	p.A227T	CAD_uc010eyw.1_Missense_Mutation_p.A227T	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	227	Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|nuclear matrix	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)					653				0.308594	174.919217	183.288482	79	177	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27299279	27299279	2681	2	G	A	A	46	46	CAD	A	2	2
CAD	790	broad.mit.edu	36	2	27314846	27314846	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27314846C>A	uc002rji.1	+	c.4904C>A	c.(4903-4905)ACC>AAC	p.T1635N	CAD_uc010eyw.1_Missense_Mutation_p.T1572N	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1635	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|nuclear matrix	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)					653				0.547619	359.927662	360.340518	115	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27314846	27314846	2681	2	C	A	A	18	18	CAD	A	3	3
CAD	790	broad.mit.edu	36	2	27319641	27319641	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27319641G>A	uc002rji.1	+	c.6552G>A	c.(6550-6552)CCG>CCA	p.P2184P	CAD_uc010eyw.1_Silent_p.P2121P	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	2184	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|nuclear matrix	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)					653				0.576923	178.805468	179.340708	60	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	27319641	27319641	2681	2	G	A	A	37	37	CAD	A	1	1
DNAJC5G	285126	broad.mit.edu	36	2	27354159	27354159	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27354159G>T	uc002rjl.1	+	c.147G>T	c.(145-147)GAG>GAT	p.E49D	DNAJC5G_uc002rjm.1_Missense_Mutation_p.E49D	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	49	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.206897	106.367953	124.842952	48	184	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27354159	27354159	4835	2	G	T	T	36	36	DNAJC5G	T	3	3
DNAJC5G	285126	broad.mit.edu	36	2	27354559	27354559	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27354559G>T	uc002rjl.1	+	c.376_splice	c.e5-1	p.T126_splice	DNAJC5G_uc002rjm.1_Splice_Site_SNP_p.T126_splice	NM_173650	NP_775921			DnaJ (Hsp40) homolog, subfamily C, member 5						protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.522727	126.334917	126.373515	46	42	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	27354559	27354559	4835	2	G	T	T	33	33	DNAJC5G	T	5	3
TRIM54	57159	broad.mit.edu	36	2	27375674	27375674	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27375674G>T	uc002rjn.1	+	c.399G>T	c.(397-399)AAG>AAT	p.K133N	TRIM54_uc002rjo.1_Missense_Mutation_p.K133N	NM_032546	NP_115935	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 1	133	B box-type.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.23913	45.896797	51.620413	22	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27375674	27375674	17074	2	G	T	T	33	33	TRIM54	T	3	3
TRIM54	57159	broad.mit.edu	36	2	27382048	27382048	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27382048G>A	uc002rjn.1	+	c.828G>A	c.(826-828)GCG>GCA	p.A276A	TRIM54_uc002rjo.1_Silent_p.A234A	NM_032546	NP_115935	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 1	234	Potential.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.589744	65.325799	65.599634	23	16	GG		KEEP	---	---	---	---	capture			Silent	SNP	27382048	27382048	17074	2	G	A	A	38	38	TRIM54	A	1	1
UCN	7349	broad.mit.edu	36	2	27383960	27383960	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27383960G>A	uc002rjp.1	-	c.308C>T	c.(307-309)GCG>GTG	p.A103V	UCN_uc010eyx.1_Missense_Mutation_p.A103V	NM_003353	NP_003344	P55089	UCN1_HUMAN	urocortin preproprotein	103						extracellular region	neuropeptide hormone activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.257143	38.82051	42.56228	18	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27383960	27383960	17485	2	G	A	A	38	38	UCN	A	1	1
GTF3C2	2976	broad.mit.edu	36	2	27404847	27404847	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27404847G>A	uc002rju.1	-	c.2281C>T	c.(2281-2283)CGA>TGA	p.R761*	MPV17_uc002rjt.1_5'Flank|GTF3C2_uc010eyy.1_Nonsense_Mutation_p.R205*|GTF3C2_uc002rjv.1_Nonsense_Mutation_p.R750*|GTF3C2_uc002rjw.1_Nonsense_Mutation_p.R750*	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	750					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.216495	42.416729	49.616752	21	76	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27404847	27404847	7153	2	G	A	A	38	38	GTF3C2	A	5	1
EIF2B4	8890	broad.mit.edu	36	2	27443557	27443557	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27443557G>A	uc002rjz.1	-	c.961C>T	c.(961-963)CGA>TGA	p.R321*	EIF2B4_uc002rka.1_Nonsense_Mutation_p.R286*|EIF2B4_uc002rkb.1_Nonsense_Mutation_p.R301*|EIF2B4_uc002rkc.1_Nonsense_Mutation_p.R300*|EIF2B4_uc002rkd.1_Nonsense_Mutation_p.R95*|EIF2B4_uc002rke.1_Nonsense_Mutation_p.R270*|EIF2B4_uc002rkf.1_3'UTR	NM_172195	NP_751945	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	301					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.261628	103.155366	111.964017	45	127	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27443557	27443557	5192	2	G	A	A	37	37	EIF2B4	A	5	1
ZNF513	130557	broad.mit.edu	36	2	27453977	27453977	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27453977G>T	uc002rkk.1	-	c.1565C>A	c.(1564-1566)TCT>TAT	p.S522Y	ZNF513_uc002rkj.1_Missense_Mutation_p.S460Y	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	522					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	promoter binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.289062	80.102152	85.222433	37	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27453977	27453977	18552	2	G	T	T	33	33	ZNF513	T	3	3
IFT172	26160	broad.mit.edu	36	2	27535150	27535150	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27535150C>A	uc002rku.1	-	c.2877G>T	c.(2875-2877)AAG>AAT	p.K959N		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	959	TPR 6.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)													0.235294	52.568	59.092487	24	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27535150	27535150	7858	2	C	A	A	24	24	IFT172	A	3	3
IFT172	26160	broad.mit.edu	36	2	27537639	27537639	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27537639C>A	uc002rku.1	-	c.2442_splice	c.e22+1	p.R814_splice		NM_015662	NP_056477			selective LIM binding factor homolog						cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)													0.534884	211.677845	211.814753	69	60	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	27537639	27537639	7858	2	C	A	A	18	18	IFT172	A	5	3
GCKR	2646	broad.mit.edu	36	2	27575777	27575777	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27575777G>A	uc002rky.1	+	c.505G>A	c.(505-507)GGG>AGG	p.G169R	GCKR_uc010ezd.1_Missense_Mutation_p.G169R	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	169	SIS 1.				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)													0.203593	233.767643	274.630125	102	399	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27575777	27575777	6560	2	G	A	A	39	39	GCKR	A	1	1
GCKR	2646	broad.mit.edu	36	2	27582103	27582103	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27582103C>T	uc002rky.1	+	c.765C>T	c.(763-765)AGC>AGT	p.S255S	GCKR_uc010ezd.1_Silent_p.S255S	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	255	SIS 1.				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)													0.269737	93.800775	101.078384	41	111	CC		KEEP	---	---	---	---	capture			Silent	SNP	27582103	27582103	6560	2	C	T	T	27	27	GCKR	T	1	1
C2orf16	84226	broad.mit.edu	36	2	27653766	27653766	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27653766G>T	uc002rkz.2	+	c.823G>T	c.(823-825)GAA>TAA	p.E275*		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	275										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.317204	140.936507	146.474916	59	127	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27653766	27653766	2243	2	G	T	T	33	33	C2orf16	T	5	3
C2orf16	84226	broad.mit.edu	36	2	27653920	27653920	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27653920G>T	uc002rkz.2	+	c.977G>T	c.(976-978)AGA>ATA	p.R326I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	326										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.516779	212.839584	212.874663	77	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27653920	27653920	2243	2	G	T	T	33	33	C2orf16	T	3	3
C2orf16	84226	broad.mit.edu	36	2	27655775	27655775	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27655775G>T	uc002rkz.2	+	c.2832G>T	c.(2830-2832)GAG>GAT	p.E944D		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	944										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.205882	39.707994	47.900687	21	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27655775	27655775	2243	2	G	T	T	33	33	C2orf16	T	3	3
C2orf16	84226	broad.mit.edu	36	2	27656506	27656506	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27656506T>C	uc002rkz.2	+	c.3563T>C	c.(3562-3564)GTC>GCC	p.V1188A	ZNF512_uc002rla.1_5'Flank|ZNF512_uc002rlb.1_5'Flank|ZNF512_uc002rlc.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1188										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.514124	308.526226	308.557259	91	86	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27656506	27656506	2243	2	T	C	C	58	58	C2orf16	C	4	4
C2orf16	84226	broad.mit.edu	36	2	27656959	27656959	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27656959G>T	uc002rkz.2	+	c.4016G>T	c.(4015-4017)AGA>ATA	p.R1339I	ZNF512_uc002rla.1_5'Flank|ZNF512_uc002rlb.1_5'Flank|ZNF512_uc002rlc.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1339										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.22449	44.990652	51.83432	22	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27656959	27656959	2243	2	G	T	T	33	33	C2orf16	T	3	3
ZNF512	84450	broad.mit.edu	36	2	27679609	27679609	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27679609T>C	uc002rla.1	+	c.867T>C	c.(865-867)TGT>TGC	p.C289C	ZNF512_uc002rlb.1_Silent_p.C210C|ZNF512_uc002rlc.1_Silent_p.C210C	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	289	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.330317	225.413165	231.10033	73	148	TT		KEEP	---	---	---	---	capture			Silent	SNP	27679609	27679609	18550	2	T	C	C	58	58	ZNF512	C	4	4
ZNF512	84450	broad.mit.edu	36	2	27684289	27684289	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27684289G>A	uc002rla.1	+	c.1010G>A	c.(1009-1011)CGA>CAA	p.R337Q	ZNF512_uc002rlb.1_Missense_Mutation_p.R258Q|ZNF512_uc002rlc.1_Missense_Mutation_p.R258Q	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.337838	64.050375	65.772178	25	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27684289	27684289	18550	2	G	A	A	37	37	ZNF512	A	1	1
CCDC121	79635	broad.mit.edu	36	2	27703867	27703867	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27703867G>A	uc002rld.1	-	c.790C>T	c.(790-792)CGG>TGG	p.R264W	CCDC121_uc002rle.1_Missense_Mutation_p.R102W|CCDC121_uc010eze.1_Missense_Mutation_p.R102W|GPN1_uc010ezf.1_5'Flank|GPN1_uc002rlf.1_5'Flank|GPN1_uc002rlg.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	102											0	Acute lymphoblastic leukemia(172;0.155)													0.285714	342.917463	363.991169	146	365	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27703867	27703867	2877	2	G	A	A	38	38	CCDC121	A	1	1
CCDC121	79635	broad.mit.edu	36	2	27703930	27703930	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27703930C>A	uc002rld.1	-	c.727G>T	c.(727-729)GAA>TAA	p.E243*	CCDC121_uc002rle.1_Nonsense_Mutation_p.E81*|CCDC121_uc010eze.1_Nonsense_Mutation_p.E81*|GPN1_uc010ezf.1_5'Flank|GPN1_uc002rlf.1_5'Flank|GPN1_uc002rlg.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	81											0	Acute lymphoblastic leukemia(172;0.155)													0.282609	332.770138	354.281728	143	363	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27703930	27703930	2877	2	C	A	A	32	32	CCDC121	A	5	3
SLC4A1AP	22950	broad.mit.edu	36	2	27740340	27740340	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27740340G>A	uc002rlk.2	+	c.217G>A	c.(217-219)GAC>AAC	p.D73N	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	73						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)													0.23494	85.674171	96.321384	39	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27740340	27740340	15150	2	G	A	A	41	41	SLC4A1AP	A	2	2
MRPL33	9553	broad.mit.edu	36	2	27855813	27855813	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27855813G>T	uc002rlm.1	+	c.158G>T	c.(157-159)AGA>ATA	p.R53I	MRPL33_uc002rln.1_Missense_Mutation_p.K17N	NM_004891	NP_004882	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33 isoform a	53					translation	mitochondrion|ribosome	structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.155)													0.530233	321.539291	321.709301	114	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27855813	27855813	10189	2	G	T	T	33	33	MRPL33	T	3	3
FOSL2	2355	broad.mit.edu	36	2	28488565	28488565	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:28488565C>T	uc002rma.1	+	c.727C>T	c.(727-729)CGC>TGC	p.R243C		NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	243					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)													0.379747	75.366056	76.354193	30	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28488565	28488565	6230	2	C	T	T	27	27	FOSL2	T	1	1
PLB1	151056	broad.mit.edu	36	2	28605718	28605718	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:28605718C>A	uc002rmb.1	+	c.356C>A	c.(355-357)CCT>CAT	p.P119H	PLB1_uc010ezj.1_Missense_Mutation_p.P119H	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1	119	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.231343	67.153432	76.018065	31	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28605718	28605718	12450	2	C	A	A	24	24	PLB1	A	3	3
TRMT61B	55006	broad.mit.edu	36	2	28946452	28946452	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:28946452A>C	uc002rmm.1	-	c.196T>G	c.(196-198)TCT>GCT	p.S66A	TRMT61B_uc002rmn.1_Missense_Mutation_p.S66A|TRMT61B_uc010ezk.1_Non-coding_Transcript	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B	66							tRNA (adenine-N1-)-methyltransferase activity				0														0.212644	95.203291	108.462446	37	137	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28946452	28946452	17120	2	A	C	C	10	10	TRMT61B	C	4	4
FAM179A	165186	broad.mit.edu	36	2	29075603	29075603	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29075603G>T	uc010ezl.1	+	c.192G>T	c.(190-192)CAG>CAT	p.Q64H		NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	64							binding			ovary(3)|skin(1)	4														0.5	67.930928	67.930928	25	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29075603	29075603	5711	2	G	T	T	34	34	FAM179A	T	3	3
CLIP4	79745	broad.mit.edu	36	2	29197801	29197801	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29197801C>T	uc002rmv.1	+	c.43C>T	c.(43-45)CCT>TCT	p.P15S	CLIP4_uc002rmu.1_Missense_Mutation_p.P15S|CLIP4_uc010ezm.1_Missense_Mutation_p.P15S|CLIP4_uc002rmw.1_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	15										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.329218	210.013816	216.298664	80	163	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29197801	29197801	3673	2	C	T	T	30	30	CLIP4	T	2	2
CLIP4	79745	broad.mit.edu	36	2	29210176	29210176	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29210176G>A	uc002rmv.1	+	c.519G>A	c.(517-519)TCG>TCA	p.S173S	CLIP4_uc002rmu.1_Silent_p.S173S|CLIP4_uc010ezm.1_Silent_p.S173S|CLIP4_uc002rmw.1_Non-coding_Transcript|CLIP4_uc002rmx.2_Silent_p.S66S	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	173	ANK 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.27619	70.229231	74.96504	29	76	GG		KEEP	---	---	---	---	capture			Silent	SNP	29210176	29210176	3673	2	G	A	A	37	37	CLIP4	A	1	1
ALK	238	broad.mit.edu	36	2	29269670	29269670	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29269670G>A	uc002rmy.1	-	c.4787C>T	c.(4786-4788)GCT>GTT	p.A1596V		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase	1596	Cytoplasmic (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(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|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(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.309091	86.494277	90.075737	34	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29269670	29269670	528	2	G	A	A	34	34	ALK	A	2	2
ALK	238	broad.mit.edu	36	2	29270083	29270083	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29270083A>G	uc002rmy.1	-	c.4374T>C	c.(4372-4374)GCT>GCC	p.A1458A		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase	1458	Cytoplasmic (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(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|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(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.203846	120.340867	141.503874	53	207	AA		KEEP	---	---	---	---	capture			Silent	SNP	29270083	29270083	528	2	A	G	G	7	7	ALK	G	4	4
ALK	238	broad.mit.edu	36	2	29771227	29771227	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29771227C>A	uc002rmy.1	-	c.945G>T	c.(943-945)ATG>ATT	p.M315I		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase	315	MAM 1.|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(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|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(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.291498	184.50105	194.119446	72	175	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29771227	29771227	528	2	C	A	A	25	25	ALK	A	3	3
ALK	238	broad.mit.edu	36	2	29771298	29771298	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29771298G>A	uc002rmy.1	-	c.874C>T	c.(874-876)CGC>TGC	p.R292C		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase	292	MAM 1.|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(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|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(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.280992	172.549862	182.89383	68	174	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29771298	29771298	528	2	G	A	A	39	39	ALK	A	1	1
GALNT14	79623	broad.mit.edu	36	2	31000612	31000612	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:31000612G>A	uc002rns.1	-	c.1272C>T	c.(1270-1272)ATC>ATT	p.I424I	GALNT14_uc002rnq.1_Silent_p.I399I|GALNT14_uc002rnr.1_Silent_p.I419I|GALNT14_uc010ezo.1_Silent_p.I386I	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	419	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	Acute lymphoblastic leukemia(172;0.155)													0.229787	116.179517	131.963553	54	181	GG		KEEP	---	---	---	---	capture			Silent	SNP	31000612	31000612	6476	2	G	A	A	41	41	GALNT14	A	2	2
EHD3	30845	broad.mit.edu	36	2	31337237	31337237	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:31337237G>A	uc002rnu.1	+	c.860G>A	c.(859-861)CGA>CAA	p.R287Q		NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	287					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)													0.5	243.985556	243.985556	84	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31337237	31337237	5168	2	G	A	A	37	37	EHD3	A	1	1
XDH	7498	broad.mit.edu	36	2	31441868	31441868	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:31441868G>T	uc002rnv.1	-	c.2503C>A	c.(2503-2505)CTG>ATG	p.L835M		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	835					oxidation-reduction process|purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	Colon(66;682 1445 30109 40147)								0.292	176.145396	185.851847	73	177	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31441868	31441868	18007	2	G	T	T	34	34	XDH	T	3	3
XDH	7498	broad.mit.edu	36	2	31443244	31443244	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:31443244G>A	uc002rnv.1	-	c.2318C>T	c.(2317-2319)ACC>ATC	p.T773I		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	773					oxidation-reduction process|purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	Colon(66;682 1445 30109 40147)								0.551829	512.988291	513.744725	181	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31443244	31443244	18007	2	G	A	A	44	44	XDH	A	2	2
DPY30	84661	broad.mit.edu	36	2	32117997	32117997	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32117997C>T	uc002roa.1	-	c.33G>A	c.(31-33)ACG>ACA	p.T11T	DPY30_uc002rob.1_Silent_p.T11T	NM_032574	NP_115963	Q9C005	DPY30_HUMAN	dpy-30-like protein	11					endosome transport|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|trans-Golgi network	protein homodimerization activity				0	Acute lymphoblastic leukemia(172;0.155)													0.229508	59.034225	67.222733	28	94	CC		KEEP	---	---	---	---	capture			Silent	SNP	32117997	32117997	4928	2	C	T	T	27	27	DPY30	T	1	1
SLC30A6	55676	broad.mit.edu	36	2	32288067	32288067	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32288067T>G	uc002rof.1	+	c.938T>G	c.(937-939)GTA>GGA	p.V313G	SLC30A6_uc002roe.1_Missense_Mutation_p.V273G|SLC30A6_uc010ezr.1_Intron|SLC30A6_uc002rog.1_Missense_Mutation_p.V76G|SLC30A6_uc010ezs.1_Missense_Mutation_p.V199G|SLC30A6_uc002roh.1_Missense_Mutation_p.V76G	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	273	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.581395	357.832361	358.829725	100	72	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32288067	32288067	15056	2	T	G	G	57	57	SLC30A6	G	4	4
NLRC4	58484	broad.mit.edu	36	2	32303051	32303051	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32303051C>T	uc002roi.2	-	c.3070G>A	c.(3070-3072)GCT>ACT	p.A1024T	NLRC4_uc002roj.1_Missense_Mutation_p.A1024T|NLRC4_uc010ezt.1_Missense_Mutation_p.A359T	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	1024					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.537037	160.439774	160.567335	58	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32303051	32303051	10872	2	C	T	T	25	25	NLRC4	T	2	2
NLRC4	58484	broad.mit.edu	36	2	32328660	32328660	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32328660C>T	uc002roi.2	-	c.1777G>A	c.(1777-1779)GAT>AAT	p.D593N	NLRC4_uc002roj.1_Missense_Mutation_p.D593N|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	593	LRR 3.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.561224	325.361138	326.00071	110	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32328660	32328660	10872	2	C	T	T	31	31	NLRC4	T	1	1
NLRC4	58484	broad.mit.edu	36	2	32329657	32329657	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32329657T>C	uc002roi.2	-	c.780A>G	c.(778-780)GAA>GAG	p.E260E	NLRC4_uc002roj.1_Silent_p.E260E|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	260	LRR 2.|NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.233831	133.632092	146.655153	47	154	TT		KEEP	---	---	---	---	capture			Silent	SNP	32329657	32329657	10872	2	T	C	C	64	64	NLRC4	C	4	4
NLRC4	58484	broad.mit.edu	36	2	32330082	32330082	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32330082G>A	uc002roi.2	-	c.355C>T	c.(355-357)CCC>TCC	p.P119S	NLRC4_uc002roj.1_Missense_Mutation_p.P119S|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	119					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.263636	70.320221	75.880959	29	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32330082	32330082	10872	2	G	A	A	41	41	NLRC4	A	2	2
NLRC4	58484	broad.mit.edu	36	2	32331246	32331246	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32331246A>G	uc002roi.2	-	c.8T>C	c.(7-9)TTC>TCC	p.F3S	NLRC4_uc002roj.1_Missense_Mutation_p.F3S|NLRC4_uc010ezt.1_Missense_Mutation_p.F3S	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	3	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.519481	278.363083	278.4124	80	74	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32331246	32331246	10872	2	A	G	G	9	9	NLRC4	G	4	4
TSSC1	7260	broad.mit.edu	36	2	3240193	3240193	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:3240193C>T	uc002qxj.1	-	c.300G>A	c.(298-300)AGG>AGA	p.R100R	TSSC1_uc002qxi.1_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	100							protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)				Colon(140;1261 1762 4183 34270 49743)								0.282609	63.40993	67.317123	26	66	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	Silent	SNP	3240193	3240193	17219	2	C	T	T	30	30	TSSC1	T	2	2
BIRC6	57448	broad.mit.edu	36	2	32494396	32494396	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32494396A>C	uc010ezu.1	+	c.2533A>C	c.(2533-2535)AAA>CAA	p.K845Q		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	845					anti-apoptosis|apoptosis|post-translational protein modification	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)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.553846	122.707469	122.871677	36	29	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32494396	32494396	1463	2	A	C	C	1	1	BIRC6	C	4	4
BIRC6	57448	broad.mit.edu	36	2	32527423	32527423	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32527423G>A	uc010ezu.1	+	c.4541G>A	c.(4540-4542)GGC>GAC	p.G1514D		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1514					anti-apoptosis|apoptosis|post-translational protein modification	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)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.2625	98.292085	106.448659	42	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32527423	32527423	1463	2	G	A	A	42	42	BIRC6	A	2	2
BIRC6	57448	broad.mit.edu	36	2	32547171	32547171	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32547171G>A	uc010ezu.1	+	c.5943G>A	c.(5941-5943)CAG>CAA	p.Q1981Q		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1981					anti-apoptosis|apoptosis|post-translational protein modification	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)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.56	302.457748	303.004935	98	77	GG		KEEP	---	---	---	---	capture			Silent	SNP	32547171	32547171	1463	2	G	A	A	34	34	BIRC6	A	2	2
BIRC6	57448	broad.mit.edu	36	2	32624338	32624338	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:32624338G>T	uc010ezu.1	+	c.12717G>T	c.(12715-12717)TTG>TTT	p.L4239F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4239					anti-apoptosis|apoptosis|post-translational protein modification	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)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.579186	377.212969	378.42046	128	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32624338	32624338	1463	2	G	T	T	47	47	BIRC6	T	3	3
LTBP1	4052	broad.mit.edu	36	2	33335904	33335904	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:33335904C>T	uc002ros.1	+	c.2217C>T	c.(2215-2217)GGC>GGT	p.G739G	LTBP1_uc002rot.1_Silent_p.G413G|LTBP1_uc002rou.1_Silent_p.G413G|LTBP1_uc002rov.1_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	739					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)												0.233129	79.397541	90.007366	38	125	CC		KEEP	---	---	---	---	capture			Silent	SNP	33335904	33335904	9449	2	C	T	T	27	27	LTBP1	T	1	1
LTBP1	4052	broad.mit.edu	36	2	33444020	33444020	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:33444020C>T	uc002ros.1	+	c.4660C>T	c.(4660-4662)CTG>TTG	p.L1554L	LTBP1_uc002rot.1_Silent_p.L1228L|LTBP1_uc002rou.1_Silent_p.L1227L|LTBP1_uc002rov.1_Silent_p.L1174L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1553	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)												0.326389	126.670032	130.52307	47	97	CC		KEEP	---	---	---	---	capture			Silent	SNP	33444020	33444020	9449	2	C	T	T	32	32	LTBP1	T	2	2
RASGRP3	25780	broad.mit.edu	36	2	33628253	33628253	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:33628253A>G	uc002rox.1	+	c.1473A>G	c.(1471-1473)CCA>CCG	p.P491P	RASGRP3_uc002roy.1_Silent_p.P413P	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	491					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|pancreas(1)	3	all_hematologic(175;0.115)													0.538462	87.395101	87.461445	28	24	AA		KEEP	---	---	---	---	capture			Silent	SNP	33628253	33628253	13537	2	A	G	G	7	7	RASGRP3	G	4	4
RASGRP3	25780	broad.mit.edu	36	2	33637333	33637333	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:33637333G>A	uc002rox.1	+	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	RASGRP3_uc002roy.1_Missense_Mutation_p.R521H	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	599					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|pancreas(1)	3	all_hematologic(175;0.115)													0.298969	64.563611	68.055362	29	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33637333	33637333	13537	2	G	A	A	38	38	RASGRP3	A	1	1
FAM98A	25940	broad.mit.edu	36	2	33663876	33663876	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:33663876T>C	uc002rpa.1	-	c.1028A>G	c.(1027-1029)TAT>TGT	p.Y343C	FAM98A_uc002roz.1_Missense_Mutation_p.Y181C	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	344	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)													0.540541	268.827409	269.041898	80	68	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33663876	33663876	5892	2	T	C	C	49	49	FAM98A	C	4	4
FAM98A	25940	broad.mit.edu	36	2	33667000	33667000	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:33667000A>C	uc002rpa.1	-	c.428T>G	c.(427-429)TTT>TGT	p.F143C	FAM98A_uc002roz.1_Missense_Mutation_p.F20C	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	143										ovary(1)	1	all_hematologic(175;0.115)													0.298755	218.220285	226.934913	72	169	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33667000	33667000	5892	2	A	C	C	1	1	FAM98A	C	4	4
RNASEH1	246243	broad.mit.edu	36	2	3577688	3577688	+	Silent	SNP	G	A	A	rs70937039	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:3577688G>A	uc002qxt.1	-	c.330C>T	c.(328-330)AGC>AGT	p.S110S	RNASEH1_uc002qxs.1_5'UTR	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	110					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)													0.291139	100.953214	107.091373	46	112	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	Silent	SNP	3577688	3577688	13888	2	G	A	A	38	38	RNASEH1	A	1	1
CRIM1	51232	broad.mit.edu	36	2	36557592	36557592	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:36557592C>T	uc002rpd.1	+	c.1048C>T	c.(1048-1050)CGA>TGA	p.R350*		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1	350	VWFC 1.|Extracellular (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)	2		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)												0.315385	208.651915	216.537543	82	178	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	36557592	36557592	4012	2	C	T	T	31	31	CRIM1	T	5	1
CRIM1	51232	broad.mit.edu	36	2	36627805	36627805	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:36627805G>A	uc002rpd.1	+	c.2921G>A	c.(2920-2922)CGA>CAA	p.R974Q		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1	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)	2		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)												0.251429	99.338492	109.149737	44	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36627805	36627805	4012	2	G	A	A	37	37	CRIM1	A	1	1
FEZ2	9637	broad.mit.edu	36	2	36659350	36659350	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:36659350A>G	uc002rpg.1	-	c.797T>C	c.(796-798)GTG>GCG	p.V266A	FEZ2_uc002rpe.1_Missense_Mutation_p.V95A|FEZ2_uc002rpf.1_Missense_Mutation_p.V95A|FEZ2_uc002rph.1_Missense_Mutation_p.V266A|FEZ2_uc002rpi.1_Missense_Mutation_p.V121A|FEZ2_uc002rpj.1_Missense_Mutation_p.V266A	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN	zygin 2 isoform 2	266	Potential.				axon guidance|signal transduction		protein binding			ovary(1)	1		all_hematologic(82;0.21)												0.25	89.514898	97.715103	36	108	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36659350	36659350	6061	2	A	G	G	6	6	FEZ2	G	4	4
FEZ2	9637	broad.mit.edu	36	2	36662040	36662040	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:36662040C>T	uc002rpg.1	-	c.531G>A	c.(529-531)CCG>CCA	p.P177P	FEZ2_uc002rpe.1_Silent_p.P6P|FEZ2_uc002rpf.1_Silent_p.P6P|FEZ2_uc002rph.1_Silent_p.P177P|FEZ2_uc002rpi.1_Silent_p.P32P|FEZ2_uc002rpj.1_Silent_p.P177P	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN	zygin 2 isoform 2	177					axon guidance|signal transduction		protein binding			ovary(1)	1		all_hematologic(82;0.21)												0.309524	166.626466	173.399286	65	145	CC		KEEP	---	---	---	---	capture			Silent	SNP	36662040	36662040	6061	2	C	T	T	23	23	FEZ2	T	1	1
VIT	5212	broad.mit.edu	36	2	36823889	36823889	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:36823889C>T	uc002rpl.1	+	c.261C>T	c.(259-261)GGC>GGT	p.G87G	VIT_uc002rpk.2_Silent_p.G80G|VIT_uc002rpm.1_Silent_p.G80G|VIT_uc010ezv.1_Silent_p.G80G|VIT_uc010ezw.1_Silent_p.G80G	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	87	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)												0.258427	50.579256	55.290919	23	66	CC		KEEP	---	---	---	---	capture			Silent	SNP	36823889	36823889	17738	2	C	T	T	27	27	VIT	T	1	1
STRN	6801	broad.mit.edu	36	2	36980184	36980184	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:36980184T>C	uc002rpn.1	-	c.781A>G	c.(781-783)ATT>GTT	p.I261V	STRN_uc010ezx.1_Missense_Mutation_p.I261V	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	261					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(717;0.0129)|all_hematologic(82;0.21)												0.268293	60.519853	64.489747	22	60	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36980184	36980184	15849	2	T	C	C	51	51	STRN	C	4	4
HEATR5B	54497	broad.mit.edu	36	2	37081374	37081374	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37081374G>A	uc002rpp.1	-	c.5404C>T	c.(5404-5406)CCT>TCT	p.P1802S	HEATR5B_uc010ezy.1_Missense_Mutation_p.P297S|HEATR5B_uc002rpo.1_Missense_Mutation_p.P115S	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1802							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.28655	117.892546	124.890606	49	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37081374	37081374	7315	2	G	A	A	41	41	HEATR5B	A	2	2
HEATR5B	54497	broad.mit.edu	36	2	37089285	37089285	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37089285C>T	uc002rpp.1	-	c.4495G>A	c.(4495-4497)GAA>AAA	p.E1499K	HEATR5B_uc010ezy.1_Missense_Mutation_p.E83K|HEATR5B_uc002rpq.2_Missense_Mutation_p.E83K	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1499							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.299065	81.155361	85.018045	32	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37089285	37089285	7315	2	C	T	T	31	31	HEATR5B	T	1	1
HEATR5B	54497	broad.mit.edu	36	2	37089403	37089403	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37089403A>G	uc002rpp.1	-	c.4377T>C	c.(4375-4377)GGT>GGC	p.G1459G	HEATR5B_uc010ezy.1_Silent_p.G43G|HEATR5B_uc002rpq.2_Silent_p.G43G	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1459							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.286765	238.173947	249.246037	78	194	AA		KEEP	---	---	---	---	capture			Silent	SNP	37089403	37089403	7315	2	A	G	G	14	14	HEATR5B	G	4	4
HEATR5B	54497	broad.mit.edu	36	2	37108581	37108582	+	Nonsense_Mutation	DNP	CG	TA	TA			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37108581_37108582CG>TA	uc002rpp.1	-	c.3841_3842CG>TA	c.(3841-3843)CGA>TAA	p.R1281*		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1281							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.270073	86.701734	93.246354	37	100	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	DNP	37108581	37108582	7315	2	CG	TA	TA	31	31	HEATR5B	TA	5	1
HEATR5B	54497	broad.mit.edu	36	2	37130363	37130363	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37130363C>A	uc002rpp.1	-	c.2633G>T	c.(2632-2634)AGA>ATA	p.R878I		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	878	HEAT 1.						binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.216561	68.052911	79.699897	34	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37130363	37130363	7315	2	C	A	A	32	32	HEATR5B	A	3	3
EIF2AK2	5610	broad.mit.edu	36	2	37207048	37207048	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37207048C>A	uc002rps.1	-	c.796G>T	c.(796-798)GAT>TAT	p.D266Y	EIF2AK2_uc010fab.1_Intron|EIF2AK2_uc010fac.1_Missense_Mutation_p.D266Y|EIF2AK2_uc010fad.1_Missense_Mutation_p.D266Y	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	266				Missing: Loss of activity.	evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)								368				0.271318	79.661365	85.750522	35	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37207048	37207048	5186	2	C	A	A	30	30	EIF2AK2	A	3	3
SULT6B1	391365	broad.mit.edu	36	2	37269148	37269148	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37269148G>A	uc002rpu.1	-	c.26C>T	c.(25-27)GCG>GTG	p.A9V	SULT6B1_uc002rpv.2_Non-coding_Transcript|SULT6B1_uc010fae.1_Non-coding_Transcript|SULT6B1_uc010faf.1_Non-coding_Transcript|SULT6B1_uc002rpw.2_Non-coding_Transcript|SULT6B1_uc010fag.1_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	47						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)												0.306977	158.945008	166.102502	66	149	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37269148	37269148	15904	2	G	A	A	38	38	SULT6B1	A	1	1
CEBPZ	10153	broad.mit.edu	36	2	37292546	37292546	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37292546T>C	uc002rpz.1	-	c.2744A>G	c.(2743-2745)GAT>GGT	p.D915G		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	915					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)												0.35	106.702362	108.684106	35	65	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37292546	37292546	3337	2	T	C	C	50	50	CEBPZ	C	4	4
PRKD3	23683	broad.mit.edu	36	2	37340288	37340288	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37340288A>G	uc002rqd.1	-	c.2087T>C	c.(2086-2088)GTG>GCG	p.V696A	PRKD3_uc002rqe.1_Missense_Mutation_p.V296A	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	696	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|protein phosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				Melanoma(80;621 1355 8613 11814 51767)				569				0.298851	71.916303	75.062495	26	61	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37340288	37340288	12963	2	A	G	G	6	6	PRKD3	G	4	4
CYP1B1	1545	broad.mit.edu	36	2	38151527	38151527	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:38151527C>T	uc002rqo.2	-	c.1474G>A	c.(1474-1476)GAT>AAT	p.D492N		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	492					oxidation-reduction process|visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)				p.D492N(22RV1-Tumor)	68				0.25	70.162612	77.210712	31	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38151527	38151527	4316	2	C	T	T	31	31	CYP1B1	T	1	1
HNRPLL	92906	broad.mit.edu	36	2	38650567	38650567	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:38650567T>G	uc002rqw.1	-	c.1097A>C	c.(1096-1098)AAA>ACA	p.K366T	HNRPLL_uc002rqv.1_Missense_Mutation_p.K61T	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	366	RRM 3.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0		all_hematologic(82;0.248)												0.303738	199.80129	207.152769	65	149	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38650567	38650567	7569	2	T	G	G	64	64	HNRPLL	G	4	4
GALM	130589	broad.mit.edu	36	2	38756623	38756623	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:38756623G>T	uc002rqy.1	+	c.256G>T	c.(256-258)GGA>TGA	p.G86*		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	86					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)												0.262774	80.822007	87.808778	36	101	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	38756623	38756623	6469	2	G	T	T	35	35	GALM	T	5	3
GALM	130589	broad.mit.edu	36	2	38770500	38770500	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:38770500G>A	uc002rqy.1	+	c.594G>A	c.(592-594)GCG>GCA	p.A198A		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	198					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)												0.268293	59.311559	63.286942	22	60	GG		KEEP	---	---	---	---	capture			Silent	SNP	38770500	38770500	6469	2	G	A	A	39	39	GALM	A	1	1
GEMIN6	79833	broad.mit.edu	36	2	38862274	38862274	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:38862274G>T	uc002rrc.1	+	c.240G>T	c.(238-240)GAG>GAT	p.E80D	GEMIN6_uc002rrb.1_Non-coding_Transcript	NM_024775	NP_079051	Q8WXD5	GEMI6_HUMAN	gemin 6	80					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				0		all_hematologic(82;0.21)												0.32	77.558615	80.44075	32	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38862274	38862274	6600	2	G	T	T	33	33	GEMIN6	T	3	3
SOS1	6654	broad.mit.edu	36	2	39139393	39139393	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:39139393G>T	uc002rrk.2	-	c.270C>A	c.(268-270)GCC>GCA	p.A90A		NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	90					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)|lung(1)|central_nervous_system(1)	6		all_hematologic(82;0.21)								444				0.555556	288.890754	289.371254	100	80	GG		KEEP	---	---	---	---	capture			Silent	SNP	39139393	39139393	15436	2	G	T	T	43	43	SOS1	T	3	3
MAP4K3	8491	broad.mit.edu	36	2	39339222	39339222	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:39339222C>T	uc002rro.1	-	c.2319G>A	c.(2317-2319)CAG>CAA	p.Q773Q	MAP4K3_uc002rrp.1_Silent_p.Q752Q	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	773	CNH.				JNK cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|pancreas(1)	7		all_hematologic(82;0.211)								525				0.26087	94.930584	102.077563	36	102	CC		KEEP	---	---	---	---	capture			Silent	SNP	39339222	39339222	9644	2	C	T	T	32	32	MAP4K3	T	2	2
SLC8A1	6546	broad.mit.edu	36	2	40196140	40196140	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:40196140G>A	uc002rrx.1	-	c.2679C>T	c.(2677-2679)CAC>CAT	p.H893H	SLC8A1_uc002rry.1_Silent_p.H888H|SLC8A1_uc002rrz.1_Silent_p.H880H|SLC8A1_uc002rsa.1_Silent_p.H857H|SLC8A1_uc002rsd.2_Silent_p.H857H	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	893	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.23	43.462886	50.160989	23	77	GG		KEEP	---	---	---	---	capture			Silent	SNP	40196140	40196140	15203	2	G	A	A	40	40	SLC8A1	A	1	1
SLC8A1	6546	broad.mit.edu	36	2	40509193	40509193	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:40509193C>T	uc002rrx.1	-	c.1732G>A	c.(1732-1734)GAA>AAA	p.E578K	SLC8A1_uc002rry.1_Missense_Mutation_p.E578K|SLC8A1_uc002rrz.1_Missense_Mutation_p.E578K|SLC8A1_uc002rsa.1_Missense_Mutation_p.E578K|SLC8A1_uc002rsd.2_Missense_Mutation_p.E578K|SLC8A1_uc002rsb.1_Missense_Mutation_p.E578K|SLC8A1_uc010fan.1_Missense_Mutation_p.E578K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E578K	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	578	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.335484	135.043346	138.759536	52	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40509193	40509193	15203	2	C	T	T	31	31	SLC8A1	T	1	1
EML4	27436	broad.mit.edu	36	2	42410563	42410563	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:42410563C>T	uc002rsi.1	+	c.2658C>T	c.(2656-2658)GTC>GTT	p.V886V	EML4_uc010fap.1_Silent_p.V828V|EML4_uc002rsj.1_Silent_p.V575V|EML4_uc010faq.1_Silent_p.V231V	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	886					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(191)	lung(191)|ovary(2)|central_nervous_system(1)	194										780				0.580645	343.819755	344.873891	108	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	42410563	42410563	5291	2	C	T	T	32	32	EML4	T	2	2
MTA3	57504	broad.mit.edu	36	2	42789594	42789594	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:42789594C>A	uc002rso.1	+	c.1208C>A	c.(1207-1209)TCT>TAT	p.S403Y	MTA3_uc002rsp.1_Missense_Mutation_p.S403Y|MTA3_uc002rsq.1_Missense_Mutation_p.S460Y|MTA3_uc002rsr.1_Missense_Mutation_p.S459Y	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	460					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2														0.256705	142.480279	156.507716	67	194	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42789594	42789594	10303	2	C	A	A	32	32	MTA3	A	3	3
HAAO	23498	broad.mit.edu	36	2	42850807	42850807	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:42850807C>A	uc002rst.2	-	c.464G>T	c.(463-465)AGA>ATA	p.R155I		NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	155					neuron homeostasis|oxidation-reduction process|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1														0.321429	19.92504	20.740734	9	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42850807	42850807	7219	2	C	A	A	32	32	HAAO	A	3	3
PLEKHH2	130271	broad.mit.edu	36	2	43725363	43725363	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43725363G>A	uc010fau.1	+	c.47G>A	c.(46-48)CGA>CAA	p.R16Q	PLEKHH2_uc002rte.2_Missense_Mutation_p.R16Q|PLEKHH2_uc002rtf.2_Missense_Mutation_p.R16Q	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	16						cytoplasm|cytoskeleton|integral to membrane	binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.235294	41.563144	47.008655	20	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43725363	43725363	12503	2	G	A	A	37	37	PLEKHH2	A	1	1
LOC728819	728819	broad.mit.edu	36	2	43756802	43756802	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43756802T>C	uc010fav.1	-	c.164A>G	c.(163-165)AAC>AGC	p.N55S	PLEKHH2_uc002rte.2_Intron|PLEKHH2_uc002rtf.2_Intron|PLEKHH2_uc010fau.1_Intron	NM_001101330	NP_001094800			C1GALT1-specific chaperone 1-like												0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.620155	294.837117	296.473236	80	49	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43756802	43756802	9257	2	T	C	C	60	60	LOC728819	C	4	4
PLEKHH2	130271	broad.mit.edu	36	2	43792908	43792908	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43792908C>A	uc010fau.1	+	c.2342C>A	c.(2341-2343)TCT>TAT	p.S781Y	PLEKHH2_uc002rte.2_3'UTR|PLEKHH2_uc002rtf.2_Missense_Mutation_p.S780Y	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	781	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.139241	39.987815	69.846709	33	204	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43792908	43792908	12503	2	C	A	A	32	32	PLEKHH2	A	3	3
PLEKHH2	130271	broad.mit.edu	36	2	43823497	43823497	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43823497G>A	uc010fau.1	+	c.3335G>A	c.(3334-3336)CGA>CAA	p.R1112Q		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1112						cytoplasm|cytoskeleton|integral to membrane	binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.538922	266.855953	267.076053	90	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43823497	43823497	12503	2	G	A	A	37	37	PLEKHH2	A	1	1
PLEKHH2	130271	broad.mit.edu	36	2	43824510	43824510	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43824510G>T	uc010fau.1	+	c.3433G>T	c.(3433-3435)GAA>TAA	p.E1145*		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1145	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.546296	166.819059	167.019061	59	49	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	43824510	43824510	12503	2	G	T	T	33	33	PLEKHH2	T	5	3
DYNC2LI1	51626	broad.mit.edu	36	2	43885863	43885863	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43885863G>A	uc002rtl.1	+	c.970G>A	c.(970-972)GAT>AAT	p.D324N	DYNC2LI1_uc002rtj.1_Missense_Mutation_p.D323N|DYNC2LI1_uc002rtk.1_Missense_Mutation_p.D323N	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	323						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.316667	99.603945	103.192333	38	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43885863	43885863	5033	2	G	A	A	37	37	DYNC2LI1	A	1	1
ABCG8	64241	broad.mit.edu	36	2	43952690	43952690	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43952690G>A	uc002rtq.1	+	c.1036G>A	c.(1036-1038)GCA>ACA	p.A346T		NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	346	Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.566038	260.762956	261.368443	90	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43952690	43952690	73	2	G	A	A	38	38	ABCG8	A	1	1
LRPPRC	10128	broad.mit.edu	36	2	44015452	44015452	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:44015452A>C	uc002rtr.2	-	c.2574T>G	c.(2572-2574)ATT>ATG	p.I858M		NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	858					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)	2		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.609524	228.526004	229.630292	64	41	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44015452	44015452	9338	2	A	C	C	9	9	LRPPRC	C	4	4
LRPPRC	10128	broad.mit.edu	36	2	44038087	44038087	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:44038087T>C	uc002rtr.2	-	c.1590A>G	c.(1588-1590)TCA>TCG	p.S530S		NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	530				LKSN -> YFPI (in Ref. 4; AAH26034).	mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)	2		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.66055	229.625041	232.108629	72	37	TT		KEEP	---	---	---	---	capture			Silent	SNP	44038087	44038087	9338	2	T	C	C	63	63	LRPPRC	C	4	4
PPM1B	5495	broad.mit.edu	36	2	44282377	44282377	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:44282377C>T	uc002rtt.1	+	c.535C>T	c.(535-537)CGA>TGA	p.R179*	PPM1B_uc002rtu.1_Nonsense_Mutation_p.R179*|PPM1B_uc002rtv.1_Intron|PPM1B_uc002rtw.1_Nonsense_Mutation_p.R179*|PPM1B_uc002rtx.2_Nonsense_Mutation_p.R179*|PPM1B_uc002rts.1_Nonsense_Mutation_p.R179*	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	179					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.293333	104.848162	110.579869	44	106	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	44282377	44282377	12771	2	C	T	T	27	27	PPM1B	T	5	1
SLC3A1	6519	broad.mit.edu	36	2	44393338	44393338	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:44393338G>A	uc002ruc.2	+	c.1442G>A	c.(1441-1443)GGA>GAA	p.G481E	SLC3A1_uc002rtz.2_Missense_Mutation_p.G481E|SLC3A1_uc002rua.2_Missense_Mutation_p.G481E|SLC3A1_uc002rub.2_Missense_Mutation_p.G481E|SLC3A1_uc002rud.2_Missense_Mutation_p.G203E|SLC3A1_uc002rue.2_Missense_Mutation_p.G101E	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	481	Extracellular (Potential).		G -> V (in CSNU1).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)									0.326923	86.818222	89.57954	34	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44393338	44393338	15123	2	G	A	A	41	41	SLC3A1	A	2	2
SLC3A1	6519	broad.mit.edu	36	2	44400992	44400992	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:44400992G>A	uc002ruc.2	+	c.1768G>A	c.(1768-1770)GAC>AAC	p.D590N	PREPL_uc002ruf.1_3'UTR|PREPL_uc002rug.1_3'UTR|PREPL_uc002ruh.1_3'UTR|PREPL_uc002rui.2_3'UTR|PREPL_uc010fax.1_3'UTR|PREPL_uc002ruk.1_3'UTR|PREPL_uc002ruj.1_3'UTR|SLC3A1_uc002rud.2_Missense_Mutation_p.D312N|SLC3A1_uc002rue.2_Missense_Mutation_p.D210N	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	590	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)									0.573248	269.758967	270.491838	90	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44400992	44400992	15123	2	G	A	A	37	37	SLC3A1	A	1	1
PREPL	9581	broad.mit.edu	36	2	44403436	44403436	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:44403436A>C	uc002ruf.1	-	c.1958T>G	c.(1957-1959)ATT>AGT	p.I653S	PREPL_uc002rug.1_Missense_Mutation_p.I587S|PREPL_uc002ruh.1_Missense_Mutation_p.I591S|PREPL_uc002rui.2_Missense_Mutation_p.I564S|PREPL_uc010fax.1_Missense_Mutation_p.I653S|PREPL_uc002ruk.1_Missense_Mutation_p.I653S|PREPL_uc002ruj.1_Missense_Mutation_p.I564S	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	653					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.293919	265.932483	277.168502	87	209	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44403436	44403436	12918	2	A	C	C	4	4	PREPL	C	4	4
PREPL	9581	broad.mit.edu	36	2	44413129	44413129	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:44413129G>A	uc002ruf.1	-	c.1326C>T	c.(1324-1326)CGC>CGT	p.R442R	PREPL_uc002rug.1_Intron|PREPL_uc002ruh.1_Silent_p.R380R|PREPL_uc002rui.2_Silent_p.R353R|PREPL_uc010fax.1_Silent_p.R442R|PREPL_uc002ruk.1_Silent_p.R442R|PREPL_uc002ruj.1_Silent_p.R353R	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	442					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.295858	121.282805	127.584067	50	119	GG		KEEP	---	---	---	---	capture			Silent	SNP	44413129	44413129	12918	2	G	A	A	38	38	PREPL	A	1	1
C2orf34	79823	broad.mit.edu	36	2	44824272	44824272	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:44824272C>T	uc002rum.2	+	c.631C>T	c.(631-633)CGA>TGA	p.R211*		NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	hypothetical protein LOC79823	211						cytoplasm	calmodulin-lysine N-methyltransferase activity				0		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)												0.294118	72.603486	76.477111	30	72	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	44824272	44824272	2251	2	C	T	T	19	19	C2orf34	T	5	1
SRBD1	55133	broad.mit.edu	36	2	45631890	45631890	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:45631890A>G	uc002rus.1	-	c.1553T>C	c.(1552-1554)GTA>GCA	p.V518A		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	518					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.258929	84.533048	90.421948	29	83	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		Missense_Mutation	SNP	45631890	45631890	15647	2	A	G	G	14	14	SRBD1	G	4	4
SRBD1	55133	broad.mit.edu	36	2	45662402	45662402	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:45662402C>T	uc002rus.1	-	c.867G>A	c.(865-867)GGG>GGA	p.G289G		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	289					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.184932	52.129674	65.729896	27	119	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		Silent	SNP	45662402	45662402	15647	2	C	T	T	30	30	SRBD1	T	2	2
SRBD1	55133	broad.mit.edu	36	2	45682636	45682636	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:45682636C>A	uc002rus.1	-	c.171G>T	c.(169-171)AAG>AAT	p.K57N		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	57					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.271429	215.633906	232.151244	95	255	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		Missense_Mutation	SNP	45682636	45682636	15647	2	C	A	A	24	24	SRBD1	A	3	3
PRKCE	5581	broad.mit.edu	36	2	45733086	45733086	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:45733086G>A	uc002rut.1	+	c.343G>A	c.(343-345)GAC>AAC	p.D115N		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	115					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation|protein phosphorylation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(3)|ovary(2)|large_intestine(1)|kidney(1)	7		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)								460				0.516129	45.89809	45.905019	16	15	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.171)		Missense_Mutation	SNP	45733086	45733086	12954	2	G	A	A	41	41	PRKCE	A	2	2
PRKCE	5581	broad.mit.edu	36	2	46060940	46060940	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46060940C>T	uc002rut.1	+	c.609C>T	c.(607-609)GTC>GTT	p.V203V		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	203	Phorbol-ester/DAG-type 1.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation|protein phosphorylation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(3)|ovary(2)|large_intestine(1)|kidney(1)	7		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)								460				0.264286	90.504849	97.541887	37	103	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.171)		Silent	SNP	46060940	46060940	12954	2	C	T	T	32	32	PRKCE	T	2	2
EPAS1	2034	broad.mit.edu	36	2	46437411	46437411	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46437411C>T	uc002ruv.1	+	c.414C>T	c.(412-414)TGC>TGT	p.C138C		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	138	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)												0.448	158.291911	158.584537	56	69	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.151)		Silent	SNP	46437411	46437411	5343	2	C	T	T	27	27	EPAS1	T	1	1
EPAS1	2034	broad.mit.edu	36	2	46456476	46456476	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46456476C>A	uc002ruv.1	+	c.1030C>A	c.(1030-1032)CTG>ATG	p.L344M		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	344	PAC.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)												0.246575	79.620408	88.163593	36	110	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	46456476	46456476	5343	2	C	A	A	24	24	EPAS1	A	3	3
EPAS1	2034	broad.mit.edu	36	2	46459310	46459310	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46459310C>A	uc002ruv.1	+	c.1454C>A	c.(1453-1455)CCT>CAT	p.P485H	EPAS1_uc002ruw.1_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	485					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)												0.2125	35.325801	41.442181	17	63	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	46459310	46459310	5343	2	C	A	A	24	24	EPAS1	A	3	3
EPAS1	2034	broad.mit.edu	36	2	46459372	46459372	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46459372G>A	uc002ruv.1	+	c.1516G>A	c.(1516-1518)GCC>ACC	p.A506T	EPAS1_uc002ruw.1_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	506	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)												0.261364	52.68017	57.21939	23	65	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	46459372	46459372	5343	2	G	A	A	38	38	EPAS1	A	1	1
RHOQ	23433	broad.mit.edu	36	2	46623807	46623807	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46623807C>T	uc002rva.1	+	c.118C>T	c.(118-120)CCC>TCC	p.P40S	ATP6V1E2_uc002ruz.1_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	ras-like protein TC10	40	Effector region (By similarity).				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glucose import|regulation of actin cytoskeleton organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.248366	85.684201	94.492841	38	115	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.114)		Missense_Mutation	SNP	46623807	46623807	13817	2	C	T	T	26	26	RHOQ	T	2	2
SOCS5	9655	broad.mit.edu	36	2	46840280	46840280	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46840280C>T	uc002rvf.1	+	c.1107C>T	c.(1105-1107)CTC>CTT	p.L369L	SOCS5_uc002rvg.1_Silent_p.L369L|SOCS5_uc010faz.1_Silent_p.L369L	NM_014011	NP_659198	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	369					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.12037	12.097861	27.370727	13	95	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.114)		Silent	SNP	46840280	46840280	15417	2	C	T	T	31	31	SOCS5	T	1	1
TTC7A	57217	broad.mit.edu	36	2	47037548	47037548	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47037548G>T	uc010fbb.1	+	c.415G>T	c.(415-417)GAT>TAT	p.D139Y	TTC7A_uc002rvm.1_Missense_Mutation_p.D105Y|TTC7A_uc002rvn.1_5'UTR|TTC7A_uc002rvo.1_Missense_Mutation_p.D139Y|TTC7A_uc010fbc.1_5'UTR|TTC7A_uc002rvp.1_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	139	TPR 1.						binding			breast(1)	1		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)												0.32	132.016466	137.066325	56	119	GG		KEEP	---	---	---	---	capture	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Missense_Mutation	SNP	47037548	47037548	17267	2	G	T	T	33	33	TTC7A	T	3	3
TTC7A	57217	broad.mit.edu	36	2	47154396	47154396	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47154396C>T	uc010fbb.1	+	c.2479C>T	c.(2479-2481)CGT>TGT	p.R827C	C2orf61_uc010fbd.1_Intron|TTC7A_uc002rvm.1_Missense_Mutation_p.R769C|TTC7A_uc002rvo.1_Missense_Mutation_p.R803C|TTC7A_uc010fbc.1_Missense_Mutation_p.R449C|TTC7A_uc002rvp.1_Missense_Mutation_p.R684C|TTC7A_uc002rvq.1_Missense_Mutation_p.R543C|TTC7A_uc002rvr.1_Missense_Mutation_p.R252C	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	803	TPR 8.						binding			breast(1)	1		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)												0.553846	206.798124	207.126766	72	58	CC		KEEP	---	---	---	---	capture	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Missense_Mutation	SNP	47154396	47154396	17267	2	C	T	T	31	31	TTC7A	T	1	1
MSH2	4436	broad.mit.edu	36	2	47489171	47489171	+	Missense_Mutation	SNP	G	T	T	rs35898375	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47489171G>T	uc002rvz.2	+	c.339G>T	c.(337-339)AAG>AAT	p.K113N	MSH2_uc010fbf.1_Missense_Mutation_p.K113N|MSH2_uc002rvy.1_Missense_Mutation_p.K113N	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	113					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)								715				0.227273	66.673495	75.691248	30	102	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	47489171	47489171	10263	2	G	T	T	35	35	MSH2	T	3	3
MSH2	4436	broad.mit.edu	36	2	47510495	47510495	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47510495G>A	uc002rvz.2	+	c.1187G>A	c.(1186-1188)AGA>AAA	p.R396K	MSH2_uc002rvy.1_Missense_Mutation_p.R396K|MSH2_uc010fbg.1_Missense_Mutation_p.R86K	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	396					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(1)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)								715				0.239669	70.307893	77.799444	29	92	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	47510495	47510495	10263	2	G	A	A	33	33	MSH2	A	2	2
MSH2	4436	broad.mit.edu	36	2	47561493	47561493	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47561493G>T	uc002rvz.2	+	c.2613G>T	c.(2611-2613)AAG>AAT	p.K871N	MSH2_uc002rvy.1_Missense_Mutation_p.K871N	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	871					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(2)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)								715				0.5	204.685894	204.685894	72	72	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	47561493	47561493	10263	2	G	T	T	33	33	MSH2	T	3	3
MSH6	2956	broad.mit.edu	36	2	47879879	47879879	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47879879C>A	uc002rwd.2	+	c.1253C>A	c.(1252-1254)TCT>TAT	p.S418Y	MSH6_uc002rwc.2_Missense_Mutation_p.S418Y|MSH6_uc010fbj.1_Missense_Mutation_p.S116Y	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	418					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|endometrium(28)|central_nervous_system(27)|stomach(21)|haematopoietic_and_lymphoid_tissue(9)|skin(6)|urinary_tract(5)|lung(5)|ovary(3)|breast(2)|thyroid(1)	160		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)								517				0.282895	98.647741	105.092775	43	109	CC		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	47879879	47879879	10267	2	C	A	A	32	32	MSH6	A	3	3
MSH6	2956	broad.mit.edu	36	2	47880071	47880071	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47880071G>A	uc002rwd.2	+	c.1445G>A	c.(1444-1446)CGA>CAA	p.R482Q	MSH6_uc002rwc.2_Missense_Mutation_p.R482Q|MSH6_uc010fbj.1_Missense_Mutation_p.R180Q	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	482					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|endometrium(28)|central_nervous_system(27)|stomach(21)|haematopoietic_and_lymphoid_tissue(9)|skin(6)|urinary_tract(5)|lung(5)|ovary(3)|breast(2)|thyroid(1)	160		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)								517				0.532609	144.272314	144.356898	49	43	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	47880071	47880071	10267	2	G	A	A	37	37	MSH6	A	1	1
MSH6	2956	broad.mit.edu	36	2	47884190	47884190	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47884190G>A	uc002rwd.2	+	c.3300G>A	c.(3298-3300)ACG>ACA	p.T1100T	MSH6_uc010fbj.1_Silent_p.T798T	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	1100			T -> M (in CRC; uncertain pathogenicity).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|endometrium(28)|central_nervous_system(27)|stomach(21)|haematopoietic_and_lymphoid_tissue(9)|skin(6)|urinary_tract(5)|lung(5)|ovary(3)|breast(2)|thyroid(1)	160		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)								517				0.198864	70.227677	85.080916	35	141	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Silent	SNP	47884190	47884190	10267	2	G	A	A	37	37	MSH6	A	1	1
FBXO11	80204	broad.mit.edu	36	2	47893955	47893955	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47893955C>A	uc010fbl.1	-	c.1897G>T	c.(1897-1899)GAT>TAT	p.D633Y	FBXO11_uc002rwe.1_Missense_Mutation_p.D633Y|FBXO11_uc002rwf.1_Missense_Mutation_p.D633Y|FBXO11_uc010fbk.1_Missense_Mutation_p.D141Y	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	717	PbH1 15.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)								2				0.338308	167.176986	171.805378	68	133	CC		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	47893955	47893955	5964	2	C	A	A	32	32	FBXO11	A	3	3
FBXO11	80204	broad.mit.edu	36	2	47919585	47919585	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47919585G>A	uc010fbl.1	-	c.252C>T	c.(250-252)TTC>TTT	p.F84F	FBXO11_uc002rwe.1_Silent_p.F84F|FBXO11_uc002rwf.1_Silent_p.F84F|FBXO11_uc002rwg.1_Silent_p.F84F	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	168	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)								2				0.273973	103.230676	109.954394	40	106	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Silent	SNP	47919585	47919585	5964	2	G	A	A	33	33	FBXO11	A	2	2
FBXO11	80204	broad.mit.edu	36	2	47920329	47920329	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47920329G>T	uc010fbl.1	-	c.64C>A	c.(64-66)CTT>ATT	p.L22I	FBXO11_uc002rwe.1_Missense_Mutation_p.L22I|FBXO11_uc002rwf.1_Missense_Mutation_p.L22I|FBXO11_uc002rwg.1_Missense_Mutation_p.L22I	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	106					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)								2				0.289308	107.767061	114.106062	46	113	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	47920329	47920329	5964	2	G	T	T	33	33	FBXO11	T	3	3
FOXN2	3344	broad.mit.edu	36	2	48439791	48439791	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:48439791G>A	uc002rwh.1	+	c.638_splice	c.e4+1	p.N213_splice		NM_002158	NP_002149			T-cell leukemia virus enhancer factor						embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|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 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)												0.264368	53.779457	58.151181	23	64	GG		KEEP	---	---	---	---	capture	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		Splice_Site_SNP	SNP	48439791	48439791	6266	2	G	A	A	36	36	FOXN2	A	5	2
KLRAQ1	129285	broad.mit.edu	36	2	48538844	48538844	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:48538844G>T	uc002rwm.1	+	c.349G>T	c.(349-351)GAA>TAA	p.E117*	KLRAQ1_uc002rwi.1_Nonsense_Mutation_p.E117*|KLRAQ1_uc002rwj.2_Nonsense_Mutation_p.E117*|KLRAQ1_uc002rwk.1_Nonsense_Mutation_p.E117*|KLRAQ1_uc002rwl.1_Nonsense_Mutation_p.E71*	NM_152994	NP_694539	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 2	117	Potential.									ovary(1)	1														0.234043	90.485037	102.672122	44	144	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	48538844	48538844	8727	2	G	T	T	33	33	KLRAQ1	T	5	3
LHCGR	3973	broad.mit.edu	36	2	48768661	48768661	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:48768661G>A	uc002rwu.2	-	c.1779C>T	c.(1777-1779)GCC>GCT	p.A593A	GTF2A1L_uc002rwt.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	593	Helical; Name=6; (Potential).		A -> P (in LHR; Leydig cell hypoplasia type 1; abolishes signal transduction).		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|breast(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)			Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)									0.56	326.767922	327.315773	98	77	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Silent	SNP	48768661	48768661	9088	2	G	A	A	35	35	LHCGR	A	2	2
FSHR	2492	broad.mit.edu	36	2	49235000	49235000	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:49235000G>A	uc002rww.1	-	c.61C>T	c.(61-63)CGG>TGG	p.R21W	FSHR_uc002rwx.1_Missense_Mutation_p.R21W|FSHR_uc010fbn.1_Missense_Mutation_p.R21W|FSHR_uc010fbo.1_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	21	LRRNT.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)			Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.282828	68.465125	72.655616	28	71	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	49235000	49235000	6324	2	G	A	A	37	37	FSHR	A	1	1
NRXN1	9378	broad.mit.edu	36	2	50633580	50633580	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:50633580C>T	uc002rxe.2	-	c.1408G>A	c.(1408-1410)GCA>ACA	p.A470T	NRXN1_uc010fbq.1_Missense_Mutation_p.A157T|NRXN1_uc002rxb.2_Missense_Mutation_p.A142T|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha1 precursor	Error:Variant_position_missing_in_P58400_after_alignment					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)												0.250996	142.401026	156.547779	63	188	CC		KEEP	---	---	---	---	capture	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		Missense_Mutation	SNP	50633580	50633580	11070	2	C	T	T	26	26	NRXN1	T	2	2
NRXN1	9378	broad.mit.edu	36	2	51108485	51108485	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:51108485C>T	uc002rxe.2	-	c.431G>A	c.(430-432)CGC>CAC	p.R144H	NRXN1_uc010fbr.1_Missense_Mutation_p.R144H|NRXN1_uc002rxd.1_Missense_Mutation_p.R144H	NM_004801	NP_004792	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha1 precursor	205	Extracellular (Potential).|Laminin G-like.				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)												0.298246	38.245675	40.32454	17	40	CC		KEEP	---	---	---	---	capture	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		Missense_Mutation	SNP	51108485	51108485	11070	2	C	T	T	27	27	NRXN1	T	1	1
ASB3	51130	broad.mit.edu	36	2	53781073	53781073	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:53781073C>T	uc002rxi.2	-	c.1191G>A	c.(1189-1191)TCG>TCA	p.S397S	ASB3_uc002rxf.1_Non-coding_Transcript|ASB3_uc002rxg.1_Silent_p.S359S|ASB3_uc002rxh.1_Silent_p.S286S	NM_145863	NP_665862	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	359	ANK 11.				intracellular signal transduction					ovary(1)|kidney(1)	2														0.292135	127.731642	134.61832	52	126	CC		KEEP	---	---	---	---	capture	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		Silent	SNP	53781073	53781073	1042	2	C	T	T	31	31	ASB3	T	1	1
ASB3	51130	broad.mit.edu	36	2	53846114	53846114	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:53846114G>A	uc002rxi.2	-	c.214C>T	c.(214-216)CGA>TGA	p.R72*	ASB3_uc002rxg.1_Nonsense_Mutation_p.R34*|ASB3_uc002rxh.1_Intron|CHAC2_uc002rxk.1_5'Flank	NM_145863	NP_665862	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	34	ANK 1.				intracellular signal transduction					ovary(1)|kidney(1)	2														0.235988	196.246285	217.839	80	259	GG		KEEP	---	---	---	---	capture	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		Nonsense_Mutation	SNP	53846114	53846114	1042	2	G	A	A	39	39	ASB3	A	5	1
ERLEC1	27248	broad.mit.edu	36	2	53893694	53893694	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:53893694C>T	uc002rxl.2	+	c.1206C>T	c.(1204-1206)GAC>GAT	p.D402D	ASB3_uc002rxi.2_Intron|ERLEC1_uc002rxm.2_Silent_p.D402D|ERLEC1_uc002rxn.2_Silent_p.D348D	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	402	PRKCSH 2.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2														0.163793	30.850244	43.31006	19	97	CC		KEEP	---	---	---	---	capture			Silent	SNP	53893694	53893694	5424	2	C	T	T	19	19	ERLEC1	T	1	1
PSME4	23198	broad.mit.edu	36	2	53989004	53989004	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:53989004C>T	uc002rxp.2	-	c.2399G>A	c.(2398-2400)CGA>CAA	p.R800Q	PSME4_uc010fbu.1_Missense_Mutation_p.R289Q|PSME4_uc010fbv.1_Missense_Mutation_p.R58Q	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	914					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5														0.3125	51.275016	53.279036	20	44	CC		KEEP	---	---	---	---	capture	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		Missense_Mutation	SNP	53989004	53989004	13162	2	C	T	T	31	31	PSME4	T	1	1
SPTBN1	6711	broad.mit.edu	36	2	54712031	54712031	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:54712031G>A	uc002rxu.1	+	c.3343G>A	c.(3343-3345)GAG>AAG	p.E1115K	SPTBN1_uc002rxx.1_Missense_Mutation_p.E1102K	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1115	Spectrin 8.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6														0.269912	143.967987	154.769255	61	165	GG		KEEP	---	---	---	---	capture	Lung(47;0.24)		Missense_Mutation	SNP	54712031	54712031	15633	2	G	A	A	37	37	SPTBN1	A	1	1
SPTBN1	6711	broad.mit.edu	36	2	54725908	54725908	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:54725908C>T	uc002rxu.1	+	c.4308C>T	c.(4306-4308)ATC>ATT	p.I1436I	SPTBN1_uc002rxx.1_Silent_p.I1423I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1436	Spectrin 11.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6														0.227273	74.74996	85.262187	35	119	CC		KEEP	---	---	---	---	capture	Lung(47;0.24)		Silent	SNP	54725908	54725908	15633	2	C	T	T	31	31	SPTBN1	T	1	1
SPTBN1	6711	broad.mit.edu	36	2	54749030	54749030	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:54749030C>A	uc002rxu.1	+	c.6915C>A	c.(6913-6915)GCC>GCA	p.A2305A		NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2305	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6														0.343066	121.567611	124.555653	47	90	CC		KEEP	---	---	---	---	capture	Lung(47;0.24)		Silent	SNP	54749030	54749030	15633	2	C	A	A	21	21	SPTBN1	A	3	3
RTN4	57142	broad.mit.edu	36	2	55105850	55105850	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:55105850C>A	uc002rye.1	-	c.2889G>T	c.(2887-2889)GAG>GAT	p.E963D	RTN4_uc002ryd.1_Missense_Mutation_p.E757D|RTN4_uc002ryf.1_Intron|RTN4_uc002ryg.1_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	963	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3														0.285714	113.658217	120.882989	50	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55105850	55105850	14208	2	C	A	A	32	32	RTN4	A	3	3
RTN4	57142	broad.mit.edu	36	2	55106434	55106434	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:55106434C>A	uc002rye.1	-	c.2305G>T	c.(2305-2307)GAA>TAA	p.E769*	RTN4_uc002ryd.1_Nonsense_Mutation_p.E563*|RTN4_uc002ryf.1_Intron|RTN4_uc002ryg.1_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	769	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3														0.313333	114.158212	118.817337	47	103	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55106434	55106434	14208	2	C	A	A	32	32	RTN4	A	5	3
RTN4	57142	broad.mit.edu	36	2	55106735	55106735	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:55106735T>G	uc002rye.1	-	c.2004A>C	c.(2002-2004)AAA>AAC	p.K668N	RTN4_uc002ryd.1_Missense_Mutation_p.K462N|RTN4_uc002ryf.1_Intron|RTN4_uc002ryg.1_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	668	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3														0.273437	98.071794	103.990327	35	93	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55106735	55106735	14208	2	T	G	G	64	64	RTN4	G	4	4
RTN4	57142	broad.mit.edu	36	2	55107175	55107175	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:55107175C>T	uc002rye.1	-	c.1564G>A	c.(1564-1566)GCA>ACA	p.A522T	RTN4_uc002ryd.1_Missense_Mutation_p.A316T|RTN4_uc002ryf.1_Intron|RTN4_uc002ryg.1_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	522	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3														0.285124	181.964633	191.999771	69	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55107175	55107175	14208	2	C	T	T	28	28	RTN4	T	2	2
SMEK2	57223	broad.mit.edu	36	2	55667281	55667281	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:55667281G>T	uc002rzc.1	-	c.1093C>A	c.(1093-1095)CTT>ATT	p.L365I	SMEK2_uc002rza.1_Missense_Mutation_p.L241I|SMEK2_uc002rzb.1_Missense_Mutation_p.L365I|SMEK2_uc002rzd.1_Missense_Mutation_p.L365I	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	365						microtubule organizing center|nucleus	protein binding				0														0.518519	353.225198	353.29637	126	117	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		Missense_Mutation	SNP	55667281	55667281	15292	2	G	T	T	33	33	SMEK2	T	3	3
EFEMP1	2202	broad.mit.edu	36	2	55957328	55957328	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:55957328G>T	uc002rzh.1	-	c.814C>A	c.(814-816)CTT>ATT	p.L272I	EFEMP1_uc002rzi.1_Missense_Mutation_p.L272I|EFEMP1_uc002rzj.1_Missense_Mutation_p.L272I	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	272	Mediates interaction with TIMP3.|EGF-like 4; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)	5						GBM(92;934 1319 7714 28760 40110)								0.278409	110.780937	118.56876	49	127	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		Missense_Mutation	SNP	55957328	55957328	5129	2	G	T	T	33	33	EFEMP1	T	3	3
CCDC85A	114800	broad.mit.edu	36	2	56273782	56273782	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:56273782G>T	uc002rzn.1	+	c.943G>T	c.(943-945)GAA>TAA	p.E315*		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	315	His-rich.									breast(3)|ovary(2)	5														0.253846	69.800857	76.961946	33	97	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		Nonsense_Mutation	SNP	56273782	56273782	2983	2	G	T	T	41	41	CCDC85A	T	5	3
VRK2	7444	broad.mit.edu	36	2	58220385	58220385	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:58220385T>G	uc002rzo.1	+	c.937T>G	c.(937-939)TTG>GTG	p.L313V	VRK2_uc010fcb.1_Missense_Mutation_p.L313V|VRK2_uc002rzp.1_Missense_Mutation_p.L313V|VRK2_uc002rzq.1_Missense_Mutation_p.L313V|VRK2_uc002rzr.1_Missense_Mutation_p.L313V|VRK2_uc010fcc.1_Missense_Mutation_p.L195V|VRK2_uc002rzv.1_Missense_Mutation_p.L313V|VRK2_uc010fcd.1_Missense_Mutation_p.L290V|VRK2_uc002rzs.1_Missense_Mutation_p.L313V|VRK2_uc002rzt.1_Missense_Mutation_p.L195V|VRK2_uc002rzu.1_Missense_Mutation_p.L313V	NM_006296	NP_006287	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 1	313	Protein kinase.				protein phosphorylation	integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1										181				0.313869	130.485087	134.703446	43	94	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58220385	58220385	17787	2	T	G	G	64	64	VRK2	G	4	4
VRK2	7444	broad.mit.edu	36	2	58240276	58240276	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:58240276C>T	uc002rzo.1	+	c.1471C>T	c.(1471-1473)CGC>TGC	p.R491C	VRK2_uc010fcb.1_3'UTR|VRK2_uc002rzp.1_Missense_Mutation_p.R491C|VRK2_uc002rzq.1_3'UTR|VRK2_uc002rzr.1_3'UTR|VRK2_uc010fcc.1_Missense_Mutation_p.R373C|VRK2_uc002rzv.1_Missense_Mutation_p.R491C|VRK2_uc010fcd.1_Missense_Mutation_p.R468C|VRK2_uc002rzs.1_3'UTR|VRK2_uc002rzt.1_Missense_Mutation_p.R373C|VRK2_uc002rzu.1_3'UTR|FANCL_uc002rzx.2_3'UTR|FANCL_uc002rzw.2_3'UTR|FANCL_uc010fce.1_3'UTR	NM_006296	NP_006287	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 1	491	Helical; Anchor for type IV membrane protein; (Potential).				protein phosphorylation	integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1										181				0.483333	250.598759	250.642814	87	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58240276	58240276	17787	2	C	T	T	31	31	VRK2	T	1	1
BCL11A	53335	broad.mit.edu	36	2	60541253	60541253	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:60541253G>A	uc002sae.1	-	c.2298C>T	c.(2296-2298)GGC>GGT	p.G766G	BCL11A_uc002sab.1_Intron|BCL11A_uc002sac.1_Intron|BCL11A_uc002sad.1_Silent_p.G614G|BCL11A_uc002saf.1_Silent_p.G732G	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	766					protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11									p.G732G(LOVO-Tumor)	131				0.615702	428.401068	431.24777	149	93	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		Silent	SNP	60541253	60541253	1384	2	G	A	A	38	38	BCL11A	A	1	1
PEX13	5194	broad.mit.edu	36	2	61112207	61112207	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61112207G>T	uc002sau.2	+	c.242G>T	c.(241-243)GGA>GTA	p.G81V		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	81	Lumenal (Potential).				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding				0														0.209559	111.804718	133.063737	57	215	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		Missense_Mutation	SNP	61112207	61112207	12163	2	G	T	T	41	41	PEX13	T	3	3
KIAA1841	84542	broad.mit.edu	36	2	61157684	61157684	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61157684G>A	uc002saw.2	+	c.557G>A	c.(556-558)CGC>CAC	p.R186H	KIAA1841_uc002say.1_Missense_Mutation_p.R186H|KIAA1841_uc002sav.2_Missense_Mutation_p.R186H|KIAA1841_uc002sax.2_Missense_Mutation_p.R40H	NM_032506	NP_115895	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform b	186											0														0.277966	191.729471	204.75319	82	213	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.193)		Missense_Mutation	SNP	61157684	61157684	8572	2	G	A	A	38	38	KIAA1841	A	1	1
KIAA1841	84542	broad.mit.edu	36	2	61157776	61157776	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61157776G>T	uc002saw.2	+	c.649G>T	c.(649-651)GAT>TAT	p.D217Y	KIAA1841_uc002say.1_Missense_Mutation_p.D217Y|KIAA1841_uc002sav.2_Missense_Mutation_p.D217Y|KIAA1841_uc002sax.2_Missense_Mutation_p.D71Y	NM_032506	NP_115895	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform b	217											0														0.30622	151.797515	158.81101	64	145	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.193)		Missense_Mutation	SNP	61157776	61157776	8572	2	G	T	T	33	33	KIAA1841	T	3	3
KIAA1841	84542	broad.mit.edu	36	2	61184526	61184526	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61184526G>A	uc002saw.2	+	c.1400G>A	c.(1399-1401)CGT>CAT	p.R467H	KIAA1841_uc002say.1_Missense_Mutation_p.R467H|KIAA1841_uc002sax.2_Missense_Mutation_p.R321H	NM_032506	NP_115895	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform b	467											0														0.288732	99.01382	104.69868	41	101	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.193)		Missense_Mutation	SNP	61184526	61184526	8572	2	G	A	A	40	40	KIAA1841	A	1	1
USP34	9736	broad.mit.edu	36	2	61294904	61294904	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61294904G>A	uc002sbe.1	-	c.8477C>T	c.(8476-8478)ACC>ATC	p.T2826I		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2826					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9														0.280757	222.739708	236.43777	89	228	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.229)		Missense_Mutation	SNP	61294904	61294904	17629	2	G	A	A	44	44	USP34	A	2	2
USP34	9736	broad.mit.edu	36	2	61369505	61369505	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61369505G>T	uc002sbe.1	-	c.4560C>A	c.(4558-4560)GAC>GAA	p.D1520E		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1520					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9														0.609756	74.976162	75.407192	25	16	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.229)		Missense_Mutation	SNP	61369505	61369505	17629	2	G	T	T	36	36	USP34	T	3	3
USP34	9736	broad.mit.edu	36	2	61381754	61381754	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61381754C>T	uc002sbe.1	-	c.3964G>A	c.(3964-3966)GAA>AAA	p.E1322K		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1322					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9														0.329049	338.158035	348.241259	128	261	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.229)		Missense_Mutation	SNP	61381754	61381754	17629	2	C	T	T	30	30	USP34	T	2	2
USP34	9736	broad.mit.edu	36	2	61429446	61429446	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61429446C>T	uc002sbe.1	-	c.1623G>A	c.(1621-1623)GAG>GAA	p.E541E		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	541					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9														0.333333	80.792726	83.081226	31	62	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.229)		Silent	SNP	61429446	61429446	17629	2	C	T	T	28	28	USP34	T	2	2
USP34	9736	broad.mit.edu	36	2	61501426	61501426	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61501426A>G	uc002sbe.1	-	c.90T>C	c.(88-90)CAT>CAC	p.H30H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	30					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9														0.255556	132.881333	142.625225	46	134	AA		KEEP	---	---	---	---	capture	Epithelial(17;0.229)		Silent	SNP	61501426	61501426	17629	2	A	G	G	16	16	USP34	G	4	4
XPO1	7514	broad.mit.edu	36	2	61563721	61563721	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61563721A>G	uc002sbi.1	-	c.2687T>C	c.(2686-2688)ATA>ACA	p.I896T	XPO1_uc010fcl.1_Missense_Mutation_p.I892T|XPO1_uc002sbj.1_Missense_Mutation_p.I896T|XPO1_uc002sbk.1_Missense_Mutation_p.I457T|XPO1_uc002sbg.1_Missense_Mutation_p.I93T|XPO1_uc002sbh.1_Missense_Mutation_p.I543T	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	896	HEAT 8.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|central_nervous_system(1)	2														0.281437	139.672045	146.829675	47	120	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		Missense_Mutation	SNP	61563721	61563721	18028	2	A	G	G	16	16	XPO1	G	4	4
B3GNT2	10678	broad.mit.edu	36	2	62303976	62303976	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:62303976A>T	uc002sbs.1	+	c.1117A>T	c.(1117-1119)ATG>TTG	p.M373L	B3GNT2_uc010fco.1_Missense_Mutation_p.M373L	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal	373	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)													0.341667	113.339719	115.997442	41	79	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		Missense_Mutation	SNP	62303976	62303976	1278	2	A	T	T	12	12	B3GNT2	T	4	4
EHBP1	23301	broad.mit.edu	36	2	62906814	62906814	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:62906814T>C	uc002sby.1	+	c.401T>C	c.(400-402)GTC>GCC	p.V134A	EHBP1_uc010fcp.1_Missense_Mutation_p.V134A|EHBP1_uc002sbx.2_Missense_Mutation_p.V134A|EHBP1_uc002sbz.1_Missense_Mutation_p.V134A|EHBP1_uc002scb.1_Missense_Mutation_p.V134A|EHBP1_uc010fcq.1_Missense_Mutation_p.V134A	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	134						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)									379				0.185185	60.105053	72.640375	25	110	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		Missense_Mutation	SNP	62906814	62906814	5164	2	T	C	C	58	58	EHBP1	C	4	4
EHBP1	23301	broad.mit.edu	36	2	63071410	63071410	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:63071410A>G	uc002sby.1	+	c.2877A>G	c.(2875-2877)CCA>CCG	p.P959P	EHBP1_uc010fcp.1_Silent_p.P888P|EHBP1_uc002sbz.1_Silent_p.P888P|EHBP1_uc002scb.1_Silent_p.P924P	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	959						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)									379				0.253521	85.634654	93.466693	36	106	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		Silent	SNP	63071410	63071410	5164	2	A	G	G	6	6	EHBP1	G	4	4
OTX1	5013	broad.mit.edu	36	2	63136860	63136860	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:63136860G>A	uc002scd.1	+	c.970G>A	c.(970-972)GCC>ACC	p.A324T		NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	324						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)													0.261364	48.714074	53.233575	23	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63136860	63136860	11733	2	G	A	A	38	38	OTX1	A	1	1
C2orf86	51057	broad.mit.edu	36	2	63462663	63462663	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:63462663A>G	uc002sch.1	-	c.1506T>C	c.(1504-1506)TAT>TAC	p.Y502Y	C2orf86_uc002sce.1_Non-coding_Transcript|C2orf86_uc002scf.1_Silent_p.Y343Y|C2orf86_uc002scg.1_Silent_p.Y310Y|C2orf86_uc002sci.1_Silent_p.Y478Y	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	502					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0														0.223529	43.822776	49.86883	19	66	AA		KEEP	---	---	---	---	capture			Silent	SNP	63462663	63462663	2293	2	A	G	G	8	8	C2orf86	G	4	4
C2orf86	51057	broad.mit.edu	36	2	63485256	63485256	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:63485256A>G	uc002sch.1	-	c.866T>C	c.(865-867)GTT>GCT	p.V289A	C2orf86_uc002sce.1_Non-coding_Transcript|C2orf86_uc002scf.1_Missense_Mutation_p.V130A|C2orf86_uc002scg.1_Missense_Mutation_p.V97A|C2orf86_uc002sci.1_Missense_Mutation_p.V265A|C2orf86_uc010fcr.1_Missense_Mutation_p.V179A	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	289					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0														0.558442	286.240011	286.695694	86	68	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63485256	63485256	2293	2	A	G	G	2	2	C2orf86	G	4	4
MDH1	4190	broad.mit.edu	36	2	63686603	63686603	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:63686603C>A	uc002scj.1	+	c.816C>A	c.(814-816)ATC>ATA	p.I272I		NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	272					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)									0.30094	224.826769	236.148966	96	223	CC		KEEP	---	---	---	---	capture			Silent	SNP	63686603	63686603	9797	2	C	A	A	32	32	MDH1	A	3	3
UGP2	7360	broad.mit.edu	36	2	63966414	63966414	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:63966414C>A	uc002scm.1	+	c.763C>A	c.(763-765)CTG>ATG	p.L255M	UGP2_uc002scl.1_Missense_Mutation_p.L244M	NM_006759	NP_001001521	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	255					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0														0.558442	367.250892	367.931937	129	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63966414	63966414	17501	2	C	A	A	32	32	UGP2	A	3	3
VPS54	51542	broad.mit.edu	36	2	63993230	63993230	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:63993230C>T	uc002scq.1	-	c.2492G>A	c.(2491-2493)CGA>CAA	p.R831Q	VPS54_uc002scp.1_Missense_Mutation_p.R819Q|VPS54_uc002scn.1_5'UTR|VPS54_uc002sco.1_Missense_Mutation_p.R316Q|VPS54_uc010fct.1_Missense_Mutation_p.R678Q	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	831					protein transport|retrograde transport, endosome to Golgi						0														0.301508	147.606855	154.619463	60	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63993230	63993230	17783	2	C	T	T	31	31	VPS54	T	1	1
AFTPH	54812	broad.mit.edu	36	2	64632881	64632881	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:64632881G>T	uc002sdc.1	+	c.769G>T	c.(769-771)GAA>TAA	p.E257*	AFTPH_uc002scz.1_Nonsense_Mutation_p.E257*|AFTPH_uc002sda.1_Nonsense_Mutation_p.E257*|AFTPH_uc002sdb.1_Nonsense_Mutation_p.E257*	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	257					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2														0.325758	105.477387	109.034249	43	89	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	64632881	64632881	365	2	G	T	T	33	33	AFTPH	T	5	3
SERTAD2	9792	broad.mit.edu	36	2	64717020	64717020	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:64717020G>A	uc002sde.1	-	c.490C>T	c.(490-492)CCA>TCA	p.P164S	SERTAD2_uc010fcu.1_Missense_Mutation_p.P164S	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	164					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0														0.541096	228.215891	228.428766	79	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64717020	64717020	14609	2	G	A	A	42	42	SERTAD2	A	2	2
SLC1A4	6509	broad.mit.edu	36	2	65097277	65097277	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:65097277G>A	uc002sdg.1	+	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	SLC1A4_uc010fcv.1_Missense_Mutation_p.A334T|SLC1A4_uc002sdh.1_Missense_Mutation_p.A114T	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	334	Helical; (Potential).				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	integral to plasma membrane|intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)									0.315476	124.084509	129.190447	53	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65097277	65097277	14930	2	G	A	A	38	38	SLC1A4	A	1	1
SPRED2	200734	broad.mit.edu	36	2	65397472	65397472	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:65397472G>T	uc002sdr.2	-	c.488C>A	c.(487-489)ACT>AAT	p.T163N	SPRED2_uc010fcw.1_Missense_Mutation_p.T160N	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	163					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|central_nervous_system(1)	2														0.262295	38.469013	41.589792	16	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65397472	65397472	15606	2	G	T	T	36	36	SPRED2	T	3	3
ETAA1	54465	broad.mit.edu	36	2	67485488	67485488	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:67485488T>G	uc002sdz.1	+	c.2170T>G	c.(2170-2172)TAT>GAT	p.Y724D		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	724						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4														0.307692	101.071408	104.494081	32	72	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67485488	67485488	5460	2	T	G	G	57	57	ETAA1	G	4	4
WDR92	116143	broad.mit.edu	36	2	68219383	68219383	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68219383T>G	uc002see.1	-	c.628A>C	c.(628-630)AAT>CAT	p.N210H	WDR92_uc002sed.1_Non-coding_Transcript|WDR92_uc002sef.1_Missense_Mutation_p.N210H|WDR92_uc002seg.1_Missense_Mutation_p.N109H	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	monad	210	WD 4.				apoptosis|histone lysine methylation		methylated histone residue binding				0														0.236162	178.475775	195.711544	64	207	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68219383	68219383	17913	2	T	G	G	64	64	WDR92	G	4	4
PNO1	56902	broad.mit.edu	36	2	68238693	68238693	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68238693C>T	uc002seh.1	+	c.123C>T	c.(121-123)GGC>GGT	p.G41G	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	partner of NOB1	41						nucleolus	RNA binding				0						NSCLC(83;642 1410 13044 32832 40058)								0.375	39.424917	39.969548	15	25	CC		KEEP	---	---	---	---	capture			Silent	SNP	68238693	68238693	12588	2	C	T	T	27	27	PNO1	T	1	1
PPP3R1	5534	broad.mit.edu	36	2	68267255	68267255	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68267255C>T	uc002sei.1	-	c.314G>A	c.(313-315)GGC>GAC	p.G105D		NM_000945	NP_000936	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B,	105	EF-hand 3.|3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding				0					Pimecrolimus(DB00337)					75				0.278689	43.754633	46.438607	17	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68267255	68267255	12836	2	C	T	T	26	26	PPP3R1	T	2	2
CNRIP1	25927	broad.mit.edu	36	2	68374634	68374634	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68374634A>G	uc002sek.2	-	c.359T>C	c.(358-360)GTG>GCG	p.V120A	CNRIP1_uc002sej.2_Intron|CNRIP1_uc002sel.2_Non-coding_Transcript|CNRIP1_uc002sem.1_Non-coding_Transcript	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	120							protein binding			liver(1)	1														0.235294	39.369925	43.724778	16	52	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68374634	68374634	3771	2	A	G	G	6	6	CNRIP1	G	4	4
PROKR1	10887	broad.mit.edu	36	2	68735866	68735866	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68735866G>A	uc002set.1	+	c.836G>A	c.(835-837)CGC>CAC	p.R279H	PROKR1_uc002ses.1_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	279	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1														0.237113	46.480612	52.606481	23	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68735866	68735866	12995	2	G	A	A	38	38	PROKR1	A	1	1
ARHGAP25	9938	broad.mit.edu	36	2	68862907	68862907	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68862907C>T	uc010fdg.1	+	c.300C>T	c.(298-300)ATC>ATT	p.I100I	ARHGAP25_uc002seu.1_Silent_p.I100I|ARHGAP25_uc002sev.2_Silent_p.I93I|ARHGAP25_uc002sew.1_Silent_p.I93I|ARHGAP25_uc002sex.1_Silent_p.I93I|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	100	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.253886	114.877508	125.493449	49	144	CC		KEEP	---	---	---	---	capture			Silent	SNP	68862907	68862907	886	2	C	T	T	31	31	ARHGAP25	T	1	1
ARHGAP25	9938	broad.mit.edu	36	2	68887958	68887958	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68887958C>T	uc010fdg.1	+	c.516C>T	c.(514-516)TTC>TTT	p.F172F	ARHGAP25_uc002seu.1_Silent_p.F171F|ARHGAP25_uc002sev.2_Silent_p.F165F|ARHGAP25_uc002sew.1_Silent_p.F164F|ARHGAP25_uc002sex.1_Silent_p.F165F|ARHGAP25_uc010fdh.1_Non-coding_Transcript|ARHGAP25_uc002sey.1_5'UTR	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	171	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.255814	50.50763	55.160476	22	64	CC		KEEP	---	---	---	---	capture			Silent	SNP	68887958	68887958	886	2	C	T	T	31	31	ARHGAP25	T	1	1
ARHGAP25	9938	broad.mit.edu	36	2	68903050	68903050	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68903050A>G	uc010fdg.1	+	c.1275A>G	c.(1273-1275)GTA>GTG	p.V425V	ARHGAP25_uc002seu.1_Silent_p.V424V|ARHGAP25_uc002sew.1_Silent_p.V417V|ARHGAP25_uc002sex.1_Silent_p.V418V|ARHGAP25_uc002sey.1_Silent_p.V151V	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	424					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.307971	247.661461	256.743002	85	191	AA		KEEP	---	---	---	---	capture			Silent	SNP	68903050	68903050	886	2	A	G	G	14	14	ARHGAP25	G	4	4
BMP10	27302	broad.mit.edu	36	2	68947026	68947026	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68947026C>A	uc002sez.1	-	c.516G>T	c.(514-516)GAG>GAT	p.E172D		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	172					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2														0.270968	92.359908	99.70973	42	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68947026	68947026	1482	2	C	A	A	32	32	BMP10	A	3	3
ANTXR1	84168	broad.mit.edu	36	2	69274016	69274016	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69274016C>T	uc002sfg.1	+	c.1399C>T	c.(1399-1401)CGT>TGT	p.R467C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	467	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)	2														0.295964	163.258978	171.565798	66	157	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69274016	69274016	719	2	C	T	T	31	31	ANTXR1	T	1	1
GFPT1	2673	broad.mit.edu	36	2	69408960	69408960	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69408960C>A	uc002sfh.1	-	c.1786G>T	c.(1786-1788)GAT>TAT	p.D596Y		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	614	SIS 2.				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				0														0.290123	110.343362	116.748625	47	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69408960	69408960	6613	2	C	A	A	32	32	GFPT1	A	3	3
GFPT1	2673	broad.mit.edu	36	2	69419164	69419164	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69419164A>G	uc002sfh.1	-	c.1187T>C	c.(1186-1188)GTG>GCG	p.V396A		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	414	SIS 1.				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				0														0.293103	88.524489	93.028471	34	82	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69419164	69419164	6613	2	A	G	G	6	6	GFPT1	G	4	4
GFPT1	2673	broad.mit.edu	36	2	69430761	69430761	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69430761G>A	uc002sfh.1	-	c.744C>T	c.(742-744)TTC>TTT	p.F248F	GFPT1_uc002sfi.1_Silent_p.F108F	NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	266	Glutamine amidotransferase type-2.				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				0														0.512821	117.391838	117.402829	40	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	69430761	69430761	6613	2	G	A	A	41	41	GFPT1	A	2	2
GFPT1	2673	broad.mit.edu	36	2	69444198	69444198	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69444198C>T	uc002sfh.1	-	c.332G>A	c.(331-333)CGC>CAC	p.R111H		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	111	Glutamine amidotransferase type-2.				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				0														0.193182	31.33374	39.062311	17	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69444198	69444198	6613	2	C	T	T	27	27	GFPT1	T	1	1
GFPT1	2673	broad.mit.edu	36	2	69444298	69444298	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69444298C>A	uc002sfh.1	-	c.232G>T	c.(232-234)GAT>TAT	p.D78Y		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	78	Glutamine amidotransferase type-2.				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				0														0.218391	38.471842	44.836791	19	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69444298	69444298	6613	2	C	A	A	32	32	GFPT1	A	3	3
AAK1	22848	broad.mit.edu	36	2	69610671	69610671	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69610671A>G	uc002sfp.2	-	c.844T>C	c.(844-846)TAT>CAT	p.Y282H	AAK1_uc010fdk.1_Missense_Mutation_p.Y282H	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	282	Protein kinase.				protein phosphorylation	coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0										752				0.307692	25.593209	26.448663	8	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69610671	69610671	17	2	A	G	G	16	16	AAK1	G	4	4
ANXA4	307	broad.mit.edu	36	2	69899937	69899937	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69899937C>A	uc002sfr.2	+	c.746C>A	c.(745-747)TCT>TAT	p.S249Y	ANXA4_uc002sfs.2_Missense_Mutation_p.S227Y	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	247					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0														0.309091	41.449738	43.238812	17	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69899937	69899937	728	2	C	A	A	32	32	ANXA4	A	3	3
MXD1	4084	broad.mit.edu	36	2	70017972	70017972	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:70017972G>A	uc002sfy.1	+	c.420G>A	c.(418-420)AGG>AGA	p.R140R		NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	140					cell proliferation|multicellular organismal development|regulation of transcription, DNA-dependent	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity				0														0.227273	60.457276	69.497441	30	102	GG		KEEP	---	---	---	---	capture			Silent	SNP	70017972	70017972	10393	2	G	A	A	41	41	MXD1	A	2	2
PCBP1	5093	broad.mit.edu	36	2	70168897	70168897	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:70168897C>A	uc002sgf.1	+	c.518C>A	c.(517-519)TCT>TAT	p.S173Y	ASPRV1_uc002sga.2_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	173					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding				0						Colon(85;1146 1307 3484 18706 25380)								0.195402	30.31746	37.852393	17	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70168897	70168897	11920	2	C	A	A	32	32	PCBP1	A	3	3
C2orf42	54980	broad.mit.edu	36	2	70261845	70261845	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:70261845C>T	uc002sgh.1	-	c.777G>A	c.(775-777)GAG>GAA	p.E259E		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	259											0														0.601852	200.686798	201.664988	65	43	CC		KEEP	---	---	---	---	capture			Silent	SNP	70261845	70261845	2254	2	C	T	T	32	32	C2orf42	T	2	2
PCYOX1	51449	broad.mit.edu	36	2	70357440	70357440	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:70357440C>T	uc002sgn.2	+	c.930C>T	c.(928-930)ATC>ATT	p.I310I	PCYOX1_uc010fdo.1_Silent_p.I233I	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	310					oxidation-reduction process|prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1														0.330097	86.51365	89.149669	34	69	CC		KEEP	---	---	---	---	capture			Silent	SNP	70357440	70357440	12029	2	C	T	T	31	31	PCYOX1	T	1	1
FIGLA	344018	broad.mit.edu	36	2	70868341	70868341	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:70868341G>T	uc002she.1	-	c.332C>A	c.(331-333)ACT>AAT	p.T111N		NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN	factor in the germline alpha	111	Helix-loop-helix motif.				multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding|transcription regulator activity				0														0.26087	13.937695	15.129566	6	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70868341	70868341	6128	2	G	T	T	36	36	FIGLA	T	3	3
CLEC4F	165530	broad.mit.edu	36	2	70897724	70897724	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:70897724T>G	uc002shf.1	-	c.297A>C	c.(295-297)GAA>GAC	p.E99D		NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	99	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						Colon(107;10 2157 6841 26035)								0.585714	135.679916	136.128156	41	29	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70897724	70897724	3654	2	T	G	G	64	64	CLEC4F	G	4	4
ATP6V1B1	525	broad.mit.edu	36	2	71038773	71038773	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71038773G>A	uc002shj.1	+	c.264G>A	c.(262-264)GCG>GCA	p.A88A	ATP6V1B1_uc002shi.1_Silent_p.A88A|ATP6V1B1_uc010fdv.1_Silent_p.A88A|ATP6V1B1_uc010fdw.1_Non-coding_Transcript|ATP6V1B1_uc010fdx.1_Silent_p.A46A	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	88					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0														0.175439	18.112878	23.777851	10	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	71038773	71038773	1197	2	G	A	A	37	37	ATP6V1B1	A	1	1
ANKRD53	79998	broad.mit.edu	36	2	71060319	71060319	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71060319C>T	uc002shl.2	+	c.438C>T	c.(436-438)TTC>TTT	p.F146F	ANKRD53_uc002shk.2_Silent_p.F146F|ANKRD53_uc002shm.2_Silent_p.F112F	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53 isoform a	146	ANK 1.										0														0.263158	22.230127	24.160294	10	28	CC		KEEP	---	---	---	---	capture			Silent	SNP	71060319	71060319	687	2	C	T	T	31	31	ANKRD53	T	1	1
ANKRD53	79998	broad.mit.edu	36	2	71065252	71065252	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71065252G>A	uc002shl.2	+	c.907G>A	c.(907-909)GAG>AAG	p.E303K	ANKRD53_uc002shk.2_3'UTR|ANKRD53_uc002shm.2_3'UTR	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53 isoform a	303											0												OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.238318	114.705399	128.101721	51	163	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71065252	71065252	687	2	G	A	A	33	33	ANKRD53	A	2	2
NAGK	55577	broad.mit.edu	36	2	71151185	71151185	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71151185G>T	uc002shp.2	+	c.75G>T	c.(73-75)AAG>AAT	p.K25N	NAGK_uc010fea.1_Non-coding_Transcript|NAGK_uc002shq.2_5'UTR|NAGK_uc002shr.1_5'UTR	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	25					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)							OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.253333	40.883909	45.031668	19	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71151185	71151185	10538	2	G	T	T	33	33	NAGK	T	3	3
DYSF	8291	broad.mit.edu	36	2	71562583	71562583	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71562583G>T	uc010fen.1	+	c.214G>T	c.(214-216)GAC>TAC	p.D72Y	DYSF_uc002sie.1_Missense_Mutation_p.D71Y|DYSF_uc002sig.2_Missense_Mutation_p.D71Y|DYSF_uc010fee.1_Missense_Mutation_p.D71Y|DYSF_uc010fef.1_Missense_Mutation_p.D71Y|DYSF_uc010feg.1_Missense_Mutation_p.D71Y|DYSF_uc010feh.1_Missense_Mutation_p.D71Y|DYSF_uc010fei.1_Missense_Mutation_p.D71Y|DYSF_uc010fej.1_Missense_Mutation_p.D72Y|DYSF_uc002sif.1_Missense_Mutation_p.D72Y|DYSF_uc010fek.1_Missense_Mutation_p.D72Y|DYSF_uc010fel.1_Missense_Mutation_p.D72Y|DYSF_uc010fem.1_Missense_Mutation_p.D72Y|DYSF_uc010feo.1_Missense_Mutation_p.D72Y	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	71	Cytoplasmic (Potential).|C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.215686	20.108051	23.90735	11	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71562583	71562583	5045	2	G	T	T	33	33	DYSF	T	3	3
DYSF	8291	broad.mit.edu	36	2	71745915	71745915	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71745915G>A	uc010fen.1	+	c.5290G>A	c.(5290-5292)GAT>AAT	p.D1764N	DYSF_uc002sie.1_Missense_Mutation_p.D1725N|DYSF_uc002sig.2_Missense_Mutation_p.D1711N|DYSF_uc010fee.1_Missense_Mutation_p.D1746N|DYSF_uc010fef.1_Missense_Mutation_p.D1763N|DYSF_uc010feg.1_Missense_Mutation_p.D1756N|DYSF_uc010feh.1_Missense_Mutation_p.D1732N|DYSF_uc010fei.1_Missense_Mutation_p.D1742N|DYSF_uc010fej.1_Missense_Mutation_p.D1733N|DYSF_uc002sif.1_Missense_Mutation_p.D1726N|DYSF_uc010fek.1_Missense_Mutation_p.D1743N|DYSF_uc010fel.1_Missense_Mutation_p.D1712N|DYSF_uc010fem.1_Missense_Mutation_p.D1747N|DYSF_uc010feo.1_Missense_Mutation_p.D1757N	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1725	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.273973	95.06246	101.767614	40	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71745915	71745915	5045	2	G	A	A	41	41	DYSF	A	2	2
CYP26B1	56603	broad.mit.edu	36	2	72216054	72216054	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:72216054G>T	uc002sih.1	-	c.432C>A	c.(430-432)GTC>GTA	p.V144V		NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	144					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|oxidation-reduction process|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding				0														0.265306	82.568575	89.883436	39	108	GG		KEEP	---	---	---	---	capture			Silent	SNP	72216054	72216054	4321	2	G	T	T	33	33	CYP26B1	T	3	3
EXOC6B	23233	broad.mit.edu	36	2	72595743	72595743	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:72595743C>A	uc010fep.1	-	c.936G>T	c.(934-936)GAG>GAT	p.E312D	EXOC6B_uc002sij.2_Missense_Mutation_p.E312D	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	312					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2														0.3125	12.368007	12.869435	5	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72595743	72595743	5502	2	C	A	A	32	32	EXOC6B	A	3	3
SFXN5	94097	broad.mit.edu	36	2	73041788	73041788	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73041788G>A	uc002siq.1	-	c.925C>T	c.(925-927)CTC>TTC	p.L309F	SFXN5_uc002sio.1_Missense_Mutation_p.L201F|SFXN5_uc002sip.1_Intron|SFXN5_uc010fet.1_Silent_p.A241A|SFXN5_uc010feq.1_Missense_Mutation_p.L91F|SFXN5_uc010fer.1_Intron|SFXN5_uc010fes.1_Missense_Mutation_p.L91F	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	309					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1														0.561404	99.567676	99.750495	32	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73041788	73041788	14689	2	G	A	A	35	35	SFXN5	A	2	2
SFXN5	94097	broad.mit.edu	36	2	73052290	73052290	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73052290G>A	uc002siq.1	-	c.658C>T	c.(658-660)CGG>TGG	p.R220W	SFXN5_uc002sio.1_Missense_Mutation_p.R112W|SFXN5_uc002sip.1_Intron|SFXN5_uc010fet.1_Intron|SFXN5_uc010feq.1_Missense_Mutation_p.R2W|SFXN5_uc010fer.1_Non-coding_Transcript|SFXN5_uc010fes.1_Missense_Mutation_p.R2W	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	220					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1														0.313253	63.841113	66.406324	26	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73052290	73052290	14689	2	G	A	A	38	38	SFXN5	A	1	1
RAB11FIP5	26056	broad.mit.edu	36	2	73168815	73168815	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73168815C>T	uc002siu.2	-	c.1439G>A	c.(1438-1440)CGA>CAA	p.R480Q	RAB11FIP5_uc002sit.2_Missense_Mutation_p.R402Q	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	480					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0														0.226415	126.356647	144.578027	60	205	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73168815	73168815	13356	2	C	T	T	31	31	RAB11FIP5	T	1	1
SMYD5	10322	broad.mit.edu	36	2	73304161	73304161	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73304161C>T	uc002siw.2	+	c.876C>T	c.(874-876)ATC>ATT	p.I292I	SMYD5_uc002six.1_Non-coding_Transcript	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	292	SET.						metal ion binding				0														0.6	154.453419	155.244304	54	36	CC		KEEP	---	---	---	---	capture			Silent	SNP	73304161	73304161	15325	2	C	T	T	31	31	SMYD5	T	1	1
FBXO41	150726	broad.mit.edu	36	2	73344686	73344686	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73344686G>T	uc002sjb.1	-	c.1993C>A	c.(1993-1995)CTG>ATG	p.L665M		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	604						intracellular	protein binding|zinc ion binding			pancreas(1)	1														0.266667	9.493065	10.230949	4	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73344686	73344686	5987	2	G	T	T	35	35	FBXO41	T	3	3
ALMS1	7840	broad.mit.edu	36	2	73505107	73505107	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73505107G>A	uc002sje.1	+	c.809G>A	c.(808-810)CGA>CAA	p.R270Q	ALMS1_uc002sjf.1_Missense_Mutation_p.R227Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	ALMS1	269					G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.622222	170.115379	171.295009	56	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73505107	73505107	538	2	G	A	A	37	37	ALMS1	A	1	1
ALMS1	7840	broad.mit.edu	36	2	73533945	73533945	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73533945A>T	uc002sje.1	+	c.6786A>T	c.(6784-6786)GAA>GAT	p.E2262D	ALMS1_uc002sjf.1_Missense_Mutation_p.E2218D|ALMS1_uc002sjg.2_Missense_Mutation_p.E1648D|ALMS1_uc002sjh.1_Missense_Mutation_p.E1648D	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	ALMS1	2260					G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.301887	74.652574	78.37211	32	74	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73533945	73533945	538	2	A	T	T	1	1	ALMS1	T	4	4
NAT8	9027	broad.mit.edu	36	2	73721672	73721672	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73721672G>A	uc002sji.1	-	c.592C>T	c.(592-594)CAG>TAG	p.Q198*	ALMS1P_uc002sjj.2_5'UTR|NAT8_uc010few.1_Nonsense_Mutation_p.Q198*	NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	198	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1														0.373626	96.253845	97.519378	34	57	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	73721672	73721672	10575	2	G	A	A	47	47	NAT8	A	5	2
NAT8B	51471	broad.mit.edu	36	2	73781904	73781904	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73781904C>T	uc002sjk.1	-	c.37G>A	c.(37-39)GAC>AAC	p.D13N		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	N-acetyltransferase 8B	13					gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity				0														0.324895	195.426859	201.858432	77	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73781904	73781904	10576	2	C	T	T	31	31	NAT8B	T	1	1
TPRKB	51002	broad.mit.edu	36	2	73811294	73811294	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73811294T>G	uc002sjm.1	-	c.459A>C	c.(457-459)GAA>GAC	p.E153D	TPRKB_uc002sjl.1_Missense_Mutation_p.E81D|TPRKB_uc002sjn.1_Missense_Mutation_p.E114D|TPRKB_uc002sjo.1_Missense_Mutation_p.E114D	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	114					protein catabolic process	cytosol|nucleus	protein kinase binding			ovary(1)	1														0.20625	86.290547	99.084386	33	127	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73811294	73811294	16964	2	T	G	G	64	64	TPRKB	G	4	4
C2orf78	388960	broad.mit.edu	36	2	73896104	73896104	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73896104G>A	uc002sjr.1	+	c.1246G>A	c.(1246-1248)GCC>ACC	p.A416T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	416										ovary(2)	2														0.288136	39.145254	41.523858	17	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73896104	73896104	2285	2	G	A	A	46	46	C2orf78	A	2	2
C2orf78	388960	broad.mit.edu	36	2	73896981	73896981	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73896981C>T	uc002sjr.1	+	c.2123C>T	c.(2122-2124)TCT>TTT	p.S708F		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	708										ovary(2)	2														0.609865	415.724962	418.077614	136	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73896981	73896981	2285	2	C	T	T	32	32	C2orf78	T	2	2
C2orf78	388960	broad.mit.edu	36	2	73897164	73897164	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73897164G>A	uc002sjr.1	+	c.2306G>A	c.(2305-2307)CGA>CAA	p.R769Q		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	769										ovary(2)	2														0.325	65.420237	67.595499	26	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73897164	73897164	2285	2	G	A	A	37	37	C2orf78	A	1	1
C2orf78	388960	broad.mit.edu	36	2	73897569	73897569	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73897569T>G	uc002sjr.1	+	c.2711T>G	c.(2710-2712)TTT>TGT	p.F904C		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	904										ovary(2)	2														0.475	63.824102	63.84574	19	21	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73897569	73897569	2285	2	T	G	G	64	64	C2orf78	G	4	4
SLC4A5	57835	broad.mit.edu	36	2	74313169	74313169	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74313169G>A	uc002sko.1	-	c.2709C>T	c.(2707-2709)ATC>ATT	p.I903I	SLC4A5_uc002skl.2_Non-coding_Transcript|SLC4A5_uc002skn.1_Silent_p.I903I|SLC4A5_uc010ffc.1_Silent_p.I903I|SLC4A5_uc002skp.1_Silent_p.I801I|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	903	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|central_nervous_system(1)|skin(1)	7														0.291667	118.903149	125.437647	49	119	GG		KEEP	---	---	---	---	capture			Silent	SNP	74313169	74313169	15154	2	G	A	A	37	37	SLC4A5	A	1	1
SLC4A5	57835	broad.mit.edu	36	2	74327683	74327683	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74327683C>T	uc002sko.1	-	c.2047G>A	c.(2047-2049)GCC>ACC	p.A683T	SLC4A5_uc002skl.2_Non-coding_Transcript|SLC4A5_uc002skn.1_Missense_Mutation_p.A683T|SLC4A5_uc010ffc.1_Missense_Mutation_p.A683T|SLC4A5_uc002skp.1_Missense_Mutation_p.A619T|SLC4A5_uc002sks.1_Missense_Mutation_p.A683T	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	683	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|central_nervous_system(1)|skin(1)	7														0.515924	429.206037	429.275653	162	152	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74327683	74327683	15154	2	C	T	T	27	27	SLC4A5	T	1	1
SLC4A5	57835	broad.mit.edu	36	2	74331092	74331092	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74331092G>T	uc002sko.1	-	c.1539C>A	c.(1537-1539)TTC>TTA	p.F513L	SLC4A5_uc002skl.2_Non-coding_Transcript|SLC4A5_uc002skn.1_Missense_Mutation_p.F513L|SLC4A5_uc010ffc.1_Missense_Mutation_p.F513L|SLC4A5_uc002skp.1_Missense_Mutation_p.F449L|SLC4A5_uc002sks.1_Missense_Mutation_p.F513L	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	513	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|central_nervous_system(1)|skin(1)	7												OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.314655	173.080266	180.178073	73	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74331092	74331092	15154	2	G	T	T	33	33	SLC4A5	T	3	3
SLC4A5	57835	broad.mit.edu	36	2	74344847	74344847	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74344847C>T	uc002sko.1	-	c.650G>A	c.(649-651)CGC>CAC	p.R217H	SLC4A5_uc002skl.2_Non-coding_Transcript|SLC4A5_uc002skn.1_Missense_Mutation_p.R217H|SLC4A5_uc010ffc.1_Missense_Mutation_p.R217H|SLC4A5_uc002skp.1_Missense_Mutation_p.R153H|SLC4A5_uc002sks.1_Missense_Mutation_p.R217H	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	217	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|central_nervous_system(1)|skin(1)	7														0.6	181.878326	182.854476	66	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74344847	74344847	15154	2	C	T	T	27	27	SLC4A5	T	1	1
DCTN1	1639	broad.mit.edu	36	2	74448493	74448493	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74448493G>T	uc002skx.1	-	c.2022C>A	c.(2020-2022)CTC>CTA	p.L674L	DCTN1_uc002sku.1_Silent_p.L539L|DCTN1_uc002skv.1_Silent_p.L540L|DCTN1_uc002skw.1_Silent_p.L650L|DCTN1_uc002sky.2_Silent_p.L637L|DCTN1_uc010ffd.1_Silent_p.L654L|DCTN1_uc002skt.1_5'Flank	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	674					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)	3														0.248447	85.417856	94.690747	40	121	GG		KEEP	---	---	---	---	capture			Silent	SNP	74448493	74448493	4477	2	G	T	T	33	33	DCTN1	T	3	3
CCDC142	84865	broad.mit.edu	36	2	74555376	74555376	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74555376G>A	uc002slr.1	-	c.2058C>T	c.(2056-2058)AGC>AGT	p.S686S	MRPL53_uc002sln.1_5'Flank|CCDC142_uc002slo.1_Intron|CCDC142_uc002slp.1_3'UTR|CCDC142_uc002slq.1_Silent_p.S679S	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	686										central_nervous_system(1)	1														0.155963	27.503759	39.825563	17	92	GG		KEEP	---	---	---	---	capture			Silent	SNP	74555376	74555376	2896	2	G	A	A	34	34	CCDC142	A	2	2
PCGF1	84759	broad.mit.edu	36	2	74587765	74587765	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74587765C>A	uc002slz.1	-	c.111G>T	c.(109-111)AAG>AAT	p.K37N	PCGF1_uc002sly.1_5'UTR	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	37	No repressor activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein C-terminus binding|zinc ion binding			ovary(1)	1														0.253731	37.838665	41.530883	17	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74587765	74587765	11994	2	C	A	A	32	32	PCGF1	A	3	3
AUP1	550	broad.mit.edu	36	2	74609879	74609879	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74609879A>G	uc002smf.1	-	c.227T>C	c.(226-228)GTG>GCG	p.V76A	DQX1_uc010ffk.1_5'Flank|AUP1_uc002sme.1_5'Flank|AUP1_uc002smg.1_Non-coding_Transcript|AUP1_uc002smh.1_5'UTR|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.1_5'Flank	NM_181575	NP_853553	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	114	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0														0.315789	47.713956	49.44369	18	39	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74609879	74609879	1241	2	A	G	G	6	6	AUP1	G	4	4
HTRA2	27429	broad.mit.edu	36	2	74610674	74610674	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74610674C>A	uc002smi.1	+	c.33C>A	c.(31-33)GGC>GGA	p.G11G	AUP1_uc002sme.1_5'Flank|AUP1_uc002smf.1_5'Flank|AUP1_uc002smg.1_5'Flank|AUP1_uc002smh.1_5'Flank|HTRA2_uc002smj.1_Silent_p.G11G|HTRA2_uc002smk.1_Silent_p.G11G|HTRA2_uc002sml.1_Silent_p.G11G|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.1_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	11					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1														0.492308	85.284529	85.288049	32	33	CC		KEEP	---	---	---	---	capture			Silent	SNP	74610674	74610674	7754	2	C	A	A	28	28	HTRA2	A	3	3
LOXL3	84695	broad.mit.edu	36	2	74630889	74630889	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74630889G>A	uc002smp.1	-	c.408C>T	c.(406-408)CAC>CAT	p.H136H	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.H136H|LOXL3_uc002smq.1_Silent_p.H136H|LOXL3_uc010ffn.1_Silent_p.H136H|DOK1_uc002smr.1_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	136	SRCR 1.				oxidation-reduction process	extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0														0.299401	118.427396	124.409581	50	117	GG		KEEP	---	---	---	---	capture			Silent	SNP	74630889	74630889	9274	2	G	A	A	40	40	LOXL3	A	1	1
DOK1	1796	broad.mit.edu	36	2	74637016	74637016	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74637016G>A	uc002sms.1	+	c.713G>A	c.(712-714)GGA>GAA	p.G238E	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.1_Missense_Mutation_p.G99E|DOK1_uc010ffo.1_Missense_Mutation_p.G99E|DOK1_uc002smt.1_Missense_Mutation_p.G24E|DOK1_uc002smu.1_Missense_Mutation_p.G24E|DOK1_uc002smv.1_Missense_Mutation_p.G99E|DOK1_uc002smw.1_Missense_Mutation_p.G24E	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	238	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0						Esophageal Squamous(36;520 860 12502 33616 51270)								0.326531	162.900378	168.149454	64	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74637016	74637016	4880	2	G	A	A	41	41	DOK1	A	2	2
DOK1	1796	broad.mit.edu	36	2	74637726	74637726	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74637726G>A	uc002sms.1	+	c.1423G>A	c.(1423-1425)GTC>ATC	p.V475I	DOK1_uc002smr.1_Missense_Mutation_p.V336I|DOK1_uc010ffo.1_Missense_Mutation_p.V336I|DOK1_uc002smt.1_Missense_Mutation_p.V261I|DOK1_uc002smu.1_Missense_Mutation_p.V261I|DOK1_uc002smv.1_Missense_Mutation_p.V336I|DOK1_uc002smw.1_Missense_Mutation_p.V261I	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	475					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0						Esophageal Squamous(36;520 860 12502 33616 51270)								0.237113	51.477757	57.60375	23	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74637726	74637726	4880	2	G	A	A	44	44	DOK1	A	2	2
C2orf65	130951	broad.mit.edu	36	2	74642976	74642976	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74642976A>C	uc002smy.1	-	c.1157T>G	c.(1156-1158)GTG>GGG	p.V386G	C2orf65_uc010ffp.1_Intron|C2orf65_uc002smx.1_Missense_Mutation_p.V142G	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	386					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2														0.53271	383.611966	383.802334	114	100	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74642976	74642976	2272	2	A	C	C	6	6	C2orf65	C	4	4
SEMA4F	10505	broad.mit.edu	36	2	74756406	74756406	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74756406G>A	uc002sna.1	+	c.1505G>A	c.(1504-1506)CGT>CAT	p.R502H	SEMA4F_uc010ffq.1_Missense_Mutation_p.R469H|SEMA4F_uc010ffr.1_Missense_Mutation_p.R114H|SEMA4F_uc002snb.1_Missense_Mutation_p.R114H|SEMA4F_uc002snc.1_Missense_Mutation_p.R347H	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W	502	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)	3														0.584677	419.189651	420.740589	145	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74756406	74756406	14521	2	G	A	A	40	40	SEMA4F	A	1	1
HK2	3099	broad.mit.edu	36	2	74968617	74968617	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74968617C>A	uc002snd.1	+	c.2299C>A	c.(2299-2301)CTC>ATC	p.L767I		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	767	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2														0.306667	177.379748	184.885276	69	156	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74968617	74968617	7482	2	C	A	A	20	20	HK2	A	3	3
HK2	3099	broad.mit.edu	36	2	74969947	74969947	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74969947G>A	uc002snd.1	+	c.2443G>A	c.(2443-2445)GAC>AAC	p.D815N		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	815	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2														0.595238	148.859311	149.525011	50	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74969947	74969947	7482	2	G	A	A	37	37	HK2	A	1	1
TACR1	6869	broad.mit.edu	36	2	75134373	75134373	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:75134373G>A	uc002sng.1	-	c.602C>T	c.(601-603)ACT>ATT	p.T201I	TACR1_uc002snh.1_Missense_Mutation_p.T201I	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	201	Helical; Name=5; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	Pancreas(64;62 1268 3653 14826 43765)						OREG0014726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.311927	87.703684	91.140287	34	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75134373	75134373	16026	2	G	A	A	36	36	TACR1	A	2	2
FAM176A	84141	broad.mit.edu	36	2	75574174	75574174	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:75574174G>T	uc002sni.1	-	c.155C>A	c.(154-156)GCT>GAT	p.A52D	FAM176A_uc002snj.1_Missense_Mutation_p.A39D|FAM176A_uc002snk.1_Missense_Mutation_p.A52D	NM_032181	NP_115557	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	52	Necessary for the localization and biological activity.|Helical; (Potential).				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0														0.303797	59.498244	62.196885	24	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75574174	75574174	5705	2	G	T	T	34	34	FAM176A	T	3	3
C2orf3	6936	broad.mit.edu	36	2	75746650	75746650	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:75746650G>T	uc002sno.1	-	c.2141C>A	c.(2140-2142)TCT>TAT	p.S714Y	C2orf3_uc010ffs.1_Missense_Mutation_p.S276Y|C2orf3_uc002snn.1_Missense_Mutation_p.S545Y|C2orf3_uc010fft.1_Missense_Mutation_p.S389Y|MRPL19_uc002snm.1_Intron	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	714					regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			ovary(1)|central_nervous_system(1)	2						Esophageal Squamous(141;1502 1784 15043 37622 47064)								0.363636	122.450378	124.615258	48	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75746650	75746650	2250	2	G	T	T	33	33	C2orf3	T	3	3
LRRTM4	80059	broad.mit.edu	36	2	77600395	77600395	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:77600395C>T	uc002snq.1	-	c.108G>A	c.(106-108)AAG>AAA	p.K36K	LRRTM4_uc002snr.1_Silent_p.K36K|LRRTM4_uc002sns.2_Silent_p.K36K|LRRTM4_uc002snt.2_Silent_p.K37K	NM_024993	NP_079269	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	36	Extracellular (Potential).|LRRNT.					integral to membrane				pancreas(3)|ovary(1)	4														0.580357	209.063272	209.689697	65	47	CC		KEEP	---	---	---	---	capture		Colorectal(11;0.059)	Silent	SNP	77600395	77600395	9418	2	C	T	T	32	32	LRRTM4	T	2	2
CTNNA2	1496	broad.mit.edu	36	2	79990261	79990261	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:79990261G>A	uc002soi.1	+	c.886G>A	c.(886-888)GAG>AAG	p.E296K	CTNNA2_uc002sog.1_Missense_Mutation_p.E296K|CTNNA2_uc002soh.1_Missense_Mutation_p.E296K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2	296					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.272727	129.16284	138.38249	54	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79990261	79990261	4172	2	G	A	A	37	37	CTNNA2	A	1	1
LRRTM1	347730	broad.mit.edu	36	2	80383487	80383487	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:80383487A>G	uc002sok.1	-	c.969T>C	c.(967-969)TGT>TGC	p.C323C	CTNNA2_uc002sog.1_Intron|CTNNA2_uc002soh.1_Intron|CTNNA2_uc002soi.1_Intron|LRRTM1_uc002soj.2_Non-coding_Transcript|LRRTM1_uc010ffy.1_Silent_p.C323C	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	323	LRRCT.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)	3														0.521739	102.291058	102.319096	36	33	AA		KEEP	---	---	---	---	capture			Silent	SNP	80383487	80383487	9415	2	A	G	G	6	6	LRRTM1	G	4	4
TCF7L1	83439	broad.mit.edu	36	2	85386987	85386987	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85386987C>A	uc002soy.1	+	c.1137C>A	c.(1135-1137)ATC>ATA	p.I379I		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	379	HMG box.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2														0.236559	43.565821	49.50577	22	71	CC		KEEP	---	---	---	---	capture			Silent	SNP	85386987	85386987	16223	2	C	A	A	30	30	TCF7L1	A	3	3
RETSAT	54884	broad.mit.edu	36	2	85423914	85423914	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85423914G>T	uc002spd.1	-	c.1795C>A	c.(1795-1797)CTT>ATT	p.L599I	RETSAT_uc010fge.1_Non-coding_Transcript|RETSAT_uc010fgf.1_Missense_Mutation_p.L390I	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	599					oxidation-reduction process|retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(1)	1					Vitamin A(DB00162)									0.162037	52.669556	76.157797	35	181	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85423914	85423914	13708	2	G	T	T	33	33	RETSAT	T	3	3
ELMOD3	84173	broad.mit.edu	36	2	85452178	85452178	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85452178G>A	uc010fgh.1	+	c.589G>A	c.(589-591)GAG>AAG	p.E197K	ELMOD3_uc010fgg.1_Intron|ELMOD3_uc002spf.2_Missense_Mutation_p.E197K|ELMOD3_uc002spg.2_Missense_Mutation_p.E197K|ELMOD3_uc002sph.2_Missense_Mutation_p.E197K	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform a	197	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2														0.253807	119.761959	130.597127	50	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85452178	85452178	5262	2	G	A	A	41	41	ELMOD3	A	2	2
ELMOD3	84173	broad.mit.edu	36	2	85470773	85470773	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85470773G>T	uc010fgh.1	+	c.817G>T	c.(817-819)GAG>TAG	p.E273*	ELMOD3_uc002spf.2_Nonsense_Mutation_p.E273*|ELMOD3_uc002spg.2_Nonsense_Mutation_p.E273*|ELMOD3_uc002sph.2_Nonsense_Mutation_p.E273*	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform a	273	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2														0.489362	187.950246	187.964591	69	72	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	85470773	85470773	5262	2	G	T	T	33	33	ELMOD3	T	5	3
SH2D6	284948	broad.mit.edu	36	2	85516399	85516399	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85516399C>T	uc002spq.1	+	c.352C>T	c.(352-354)CGG>TGG	p.R118W	SH2D6_uc002spo.2_Non-coding_Transcript|SH2D6_uc002spp.1_Non-coding_Transcript	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	118	SH2.									central_nervous_system(1)	1														0.454545	42.520111	42.579424	15	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85516399	85516399	14729	2	C	T	T	23	23	SH2D6	T	1	1
TMEM150A	129303	broad.mit.edu	36	2	85680219	85680219	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85680219G>T	uc002spw.1	-	c.514C>A	c.(514-516)CTG>ATG	p.L172M	TMEM150A_uc002spx.1_Missense_Mutation_p.L88M|TMEM150A_uc002spz.1_Missense_Mutation_p.L119M|TMEM150A_uc002sqa.1_Missense_Mutation_p.L88M|TMEM150A_uc002spy.1_Missense_Mutation_p.L172M	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	transmembrane protein 150 isoform 1	172	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0														0.257353	78.049401	85.31722	35	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85680219	85680219	16599	2	G	T	T	35	35	TMEM150A	T	3	3
TMEM150A	129303	broad.mit.edu	36	2	85680609	85680609	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85680609C>T	uc002spw.1	-	c.312G>A	c.(310-312)CAG>CAA	p.Q104Q	USP39_uc002sqb.1_5'Flank|TMEM150A_uc002spx.1_Silent_p.Q20Q|TMEM150A_uc002spz.1_Silent_p.Q51Q|TMEM150A_uc002sqa.1_Silent_p.Q20Q|TMEM150A_uc002spy.1_Silent_p.Q104Q	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	transmembrane protein 150 isoform 1	104	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0														0.244275	74.506092	82.34123	32	99	CC		KEEP	---	---	---	---	capture			Silent	SNP	85680609	85680609	16599	2	C	T	T	32	32	TMEM150A	T	2	2
USP39	10713	broad.mit.edu	36	2	85704387	85704387	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85704387A>G	uc002sqe.2	+	c.541A>G	c.(541-543)ATC>GTC	p.I181V	USP39_uc002sqb.1_5'UTR|USP39_uc010fgn.1_Missense_Mutation_p.I181V|USP39_uc002sqf.2_Missense_Mutation_p.I181V|USP39_uc002sqg.1_Missense_Mutation_p.I181V|USP39_uc010fgo.1_Missense_Mutation_p.I181V	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	181	UBP-type.				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding				0														0.299169	319.47802	332.478921	108	253	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85704387	85704387	17634	2	A	G	G	12	12	USP39	G	4	4
GNLY	10578	broad.mit.edu	36	2	85776040	85776040	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85776040G>A	uc002sql.2	+	c.139G>A	c.(139-141)GCC>ACC	p.A47T	GNLY_uc010fgp.1_Missense_Mutation_p.A32T	NM_006433	NP_006424	P22749	GNLY_HUMAN	granulysin isoform NKG5	47				LA -> G (in Ref. 1; CAA28715).	cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0														0.254545	28.934925	31.937203	14	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85776040	85776040	6808	2	G	A	A	42	42	GNLY	A	2	2
POLR1A	25885	broad.mit.edu	36	2	86109342	86109342	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86109342G>T	uc002sqs.1	-	c.4783C>A	c.(4783-4785)CTG>ATG	p.L1595M		NM_015425	NP_056240	O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1595					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)	2														0.558442	126.325543	126.553602	43	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86109342	86109342	12637	2	G	T	T	35	35	POLR1A	T	3	3
POLR1A	25885	broad.mit.edu	36	2	86110935	86110935	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86110935G>A	uc002sqs.1	-	c.4674C>T	c.(4672-4674)GGC>GGT	p.G1558G		NM_015425	NP_056240	O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1558					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)	2														0.244444	90.697244	101.422091	44	136	GG		KEEP	---	---	---	---	capture			Silent	SNP	86110935	86110935	12637	2	G	A	A	46	46	POLR1A	A	2	2
POLR1A	25885	broad.mit.edu	36	2	86112059	86112059	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86112059G>A	uc002sqs.1	-	c.4483C>T	c.(4483-4485)CCC>TCC	p.P1495S		NM_015425	NP_056240	O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1495					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)	2														0.580128	518.614618	520.374547	181	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86112059	86112059	12637	2	G	A	A	42	42	POLR1A	A	2	2
POLR1A	25885	broad.mit.edu	36	2	86179391	86179391	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86179391G>T	uc002sqs.1	-	c.286C>A	c.(286-288)CTG>ATG	p.L96M	POLR1A_uc002sqv.1_Missense_Mutation_p.L96M	NM_015425	NP_056240	O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	96					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)	2														0.22963	70.549737	79.602282	31	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86179391	86179391	12637	2	G	T	T	34	34	POLR1A	T	3	3
PTCD3	55037	broad.mit.edu	36	2	86208582	86208582	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86208582G>A	uc002sqw.1	+	c.1104G>A	c.(1102-1104)TCG>TCA	p.S368S	PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	368	PPR 6.					mitochondrion	protein binding			ovary(1)	1														0.59127	442.099098	443.931746	149	103	GG		KEEP	---	---	---	---	capture			Silent	SNP	86208582	86208582	13183	2	G	A	A	38	38	PTCD3	A	1	1
PTCD3	55037	broad.mit.edu	36	2	86211358	86211358	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86211358G>T	uc002sqw.1	+	c.1224G>T	c.(1222-1224)AAG>AAT	p.K408N	PTCD3_uc002sqx.1_De_novo_Start_InFrame	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	408	PPR 6.					mitochondrion	protein binding			ovary(1)	1														0.286458	130.959798	138.808222	55	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86211358	86211358	13183	2	G	T	T	35	35	PTCD3	T	3	3
IMMT	10989	broad.mit.edu	36	2	86247182	86247182	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86247182G>A	uc002sqz.2	-	c.752C>T	c.(751-753)GCA>GTA	p.A251V	IMMT_uc002sqy.2_5'UTR|IMMT_uc002sra.2_Missense_Mutation_p.A250V|IMMT_uc002srb.2_Missense_Mutation_p.A240V|IMMT_uc002src.1_5'UTR|IMMT_uc002srd.2_Missense_Mutation_p.A251V|IMMT_uc010fgs.1_Missense_Mutation_p.A248V|IMMT_uc002sre.2_Missense_Mutation_p.A239V	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	251	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1														0.595238	141.35039	142.014592	50	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86247182	86247182	8019	2	G	A	A	46	46	IMMT	A	2	2
IMMT	10989	broad.mit.edu	36	2	86260121	86260121	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86260121G>T	uc002sqz.2	-	c.255C>A	c.(253-255)CTC>CTA	p.L85L	IMMT_uc002sra.2_Silent_p.L85L|IMMT_uc002srb.2_Silent_p.L85L|IMMT_uc002srd.2_Silent_p.L85L|IMMT_uc010fgs.1_Silent_p.L85L|IMMT_uc002sre.2_Silent_p.L85L	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	85	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1														0.340426	40.381936	41.441535	16	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	86260121	86260121	8019	2	G	T	T	33	33	IMMT	T	3	3
MRPL35	51318	broad.mit.edu	36	2	86291241	86291241	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86291241G>A	uc002srg.2	+	c.506G>A	c.(505-507)CGA>CAA	p.R169Q	MRPL35_uc002srf.2_Missense_Mutation_p.R169Q	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	169					translation	mitochondrial ribosome	structural constituent of ribosome				0														0.24359	86.976379	96.323121	38	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86291241	86291241	10191	2	G	A	A	37	37	MRPL35	A	1	1
KDM3A	55818	broad.mit.edu	36	2	86537647	86537647	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86537647G>A	uc002sri.2	+	c.785G>A	c.(784-786)CGC>CAC	p.R262H		NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	262					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|oxidation-reduction process|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)	4						NSCLC(96;1150 1523 6936 46253 49736)								0.213115	26.642351	31.281512	13	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86537647	86537647	8432	2	G	A	A	38	38	KDM3A	A	1	1
KDM3A	55818	broad.mit.edu	36	2	86570038	86570038	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86570038G>A	uc002sri.2	+	c.3400G>A	c.(3400-3402)GGA>AGA	p.G1134R		NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1134	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|oxidation-reduction process|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)	4						NSCLC(96;1150 1523 6936 46253 49736)								0.1875	44.904324	55.150189	21	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86570038	86570038	8432	2	G	A	A	43	43	KDM3A	A	2	2
RNF103	7844	broad.mit.edu	36	2	86703298	86703298	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86703298A>G	uc002srn.1	-	c.223T>C	c.(223-225)TCA>CCA	p.S75P	RNF103_uc002srp.2_Missense_Mutation_p.S75P	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	75					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1														0.233202	155.267401	171.90729	59	194	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86703298	86703298	13900	2	A	G	G	10	10	RNF103	G	4	4
KIDINS220	57498	broad.mit.edu	36	2	8788869	8788869	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:8788869G>A	uc002qzc.1	-	c.4748C>T	c.(4747-4749)TCA>TTA	p.S1583L	KIDINS220_uc002qzb.1_Missense_Mutation_p.S437L|KIDINS220_uc002qzd.1_Missense_Mutation_p.S1484L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1583	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.198758	59.394179	73.008282	32	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8788869	8788869	8582	2	G	A	A	45	45	KIDINS220	A	2	2
KIDINS220	57498	broad.mit.edu	36	2	8792282	8792282	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:8792282T>G	uc002qzc.1	-	c.3770A>C	c.(3769-3771)AAA>ACA	p.K1257T	KIDINS220_uc002qzb.1_Missense_Mutation_p.K111T|KIDINS220_uc002qzd.1_Missense_Mutation_p.K1158T	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1257	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.255814	64.616166	69.261854	22	64	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8792282	8792282	8582	2	T	G	G	64	64	KIDINS220	G	4	4
KIDINS220	57498	broad.mit.edu	36	2	8794458	8794458	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:8794458C>T	uc002qzc.1	-	c.3708G>A	c.(3706-3708)ACG>ACA	p.T1236T	KIDINS220_uc002qzb.1_Silent_p.T90T|KIDINS220_uc002qzd.1_Silent_p.T1137T	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1236	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.285714	94.346403	100.11403	40	100	CC		KEEP	---	---	---	---	capture			Silent	SNP	8794458	8794458	8582	2	C	T	T	31	31	KIDINS220	T	1	1
THNSL2	55258	broad.mit.edu	36	2	88259510	88259510	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:88259510C>T	uc002ssz.2	+	c.665C>T	c.(664-666)TCG>TTG	p.S222L	THNSL2_uc002ssv.2_Non-coding_Transcript|THNSL2_uc002ssw.2_Missense_Mutation_p.S222L|THNSL2_uc002ssx.2_Missense_Mutation_p.S190L|THNSL2_uc002sta.2_Missense_Mutation_p.S64L|THNSL2_uc002ssy.2_Missense_Mutation_p.S222L|THNSL2_uc010fhe.1_Missense_Mutation_p.S64L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	222					threonine biosynthetic process		threonine synthase activity			ovary(1)	1														0.549878	664.945891	665.832157	226	185	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88259510	88259510	16391	2	C	T	T	31	31	THNSL2	T	1	1
THNSL2	55258	broad.mit.edu	36	2	88263390	88263390	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:88263390G>T	uc002ssz.2	+	c.860G>T	c.(859-861)CGC>CTC	p.R287L	THNSL2_uc002ssv.2_Non-coding_Transcript|THNSL2_uc002ssw.2_Missense_Mutation_p.R287L|THNSL2_uc002ssx.2_Intron|THNSL2_uc002sta.2_Missense_Mutation_p.R129L|THNSL2_uc002ssy.2_Missense_Mutation_p.R287L|THNSL2_uc010fhe.1_Missense_Mutation_p.R129L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	287					threonine biosynthetic process		threonine synthase activity			ovary(1)	1														0.239726	85.669053	94.686046	35	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88263390	88263390	16391	2	G	T	T	38	38	THNSL2	T	3	3
KIDINS220	57498	broad.mit.edu	36	2	8834358	8834358	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:8834358C>A	uc002qzc.1	-	c.2819G>T	c.(2818-2820)AGA>ATA	p.R940I	KIDINS220_uc002qzd.1_Missense_Mutation_p.R898I|KIDINS220_uc002qzf.2_Missense_Mutation_p.R941I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	940	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.541667	185.268018	185.447784	65	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8834358	8834358	8582	2	C	A	A	32	32	KIDINS220	A	3	3
EIF2AK3	9451	broad.mit.edu	36	2	88669394	88669394	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:88669394G>A	uc002stc.2	-	c.1306C>T	c.(1306-1308)CAT>TAT	p.H436Y		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	436	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GBM(138;671 1851 16235 39058 45249)			p.H436Y(HEC251-Tumor)	242				0.21118	70.96171	83.38394	34	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88669394	88669394	5187	2	G	A	A	37	37	EIF2AK3	A	1	1
MAL	4118	broad.mit.edu	36	2	95077436	95077436	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:95077436C>T	uc002stx.1	+	c.99C>T	c.(97-99)TTC>TTT	p.F33F	MAL_uc002sty.1_Intron|MAL_uc002stz.1_Silent_p.F33F|MAL_uc002sua.1_Intron	NM_002371	NP_002362	P21145	MAL_HUMAN	T-lymphocyte maturation-associated protein	33	Helical; (Potential).|MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath				0														0.364706	81.496466	82.867196	31	54	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.18)	Silent	SNP	95077436	95077436	9582	2	C	T	T	31	31	MAL	T	1	1
CPSF3	51692	broad.mit.edu	36	2	9517144	9517144	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:9517144G>T	uc002qzo.1	+	c.1732G>T	c.(1732-1734)GAT>TAT	p.D578Y	CPSF3_uc010ewx.1_Missense_Mutation_p.D529Y|CPSF3_uc002qzp.1_Missense_Mutation_p.D541Y|CPSF3_uc002qzq.1_Missense_Mutation_p.D155Y	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	578			D -> N (in a breast cancer sample; somatic mutation).		histone mRNA 3'-end processing|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|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	p.D578N(1)		breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)				Colon(194;1259 2048 3845 5218 19985)								0.513889	102.665835	102.677591	37	35	GG		KEEP	---	---	---	---	capture		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	Missense_Mutation	SNP	9517144	9517144	3964	2	G	T	T	33	33	CPSF3	T	3	3
ZNF2	7549	broad.mit.edu	36	2	95210956	95210956	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:95210956G>T	uc002suf.1	+	c.653G>T	c.(652-654)AGA>ATA	p.R218I	ZNF2_uc002sug.1_Missense_Mutation_p.R176I|ZNF2_uc010fhs.1_Missense_Mutation_p.R139I	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	218	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)												0.309677	114.229705	119.239747	48	107	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(193;0.0222)	Missense_Mutation	SNP	95210956	95210956	18351	2	G	T	T	33	33	ZNF2	T	3	3
PROM2	150696	broad.mit.edu	36	2	95314584	95314584	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:95314584C>T	uc002suh.1	+	c.1869C>T	c.(1867-1869)CTC>CTT	p.L623L	PROM2_uc002suk.2_Silent_p.L623L|PROM2_uc002sui.1_Silent_p.L623L|PROM2_uc002suj.1_Silent_p.L277L|PROM2_uc002sul.1_Silent_p.L149L|PROM2_uc002sum.1_Intron	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2	623	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1														0.368421	18.420092	18.709145	7	12	CC		KEEP	---	---	---	---	capture			Silent	SNP	95314584	95314584	12999	2	C	T	T	31	31	PROM2	T	1	1
GPAT2	150763	broad.mit.edu	36	2	96061785	96061785	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96061785G>A	uc002svf.1	-	c.50C>T	c.(49-51)CCC>CTC	p.P17L	GPAT2_uc002svg.1_5'UTR|GPAT2_uc002svh.1_Missense_Mutation_p.P17L	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	hypothetical protein LOC150763	17					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0														0.205882	31.809907	37.265917	14	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96061785	96061785	6863	2	G	A	A	43	43	GPAT2	A	2	2
ASTL	431705	broad.mit.edu	36	2	96153444	96153444	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96153444C>T	uc002svj.1	-	c.1168G>A	c.(1168-1170)GGA>AGA	p.G390R		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase	390					proteolysis		metalloendopeptidase activity|zinc ion binding				0														0.298013	117.336425	122.832303	45	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96153444	96153444	1082	2	C	T	T	23	23	ASTL	T	1	1
ASTL	431705	broad.mit.edu	36	2	96162919	96162919	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96162919C>A	uc002svj.1	-	c.427G>T	c.(427-429)GAC>TAC	p.D143Y		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase	143					proteolysis		metalloendopeptidase activity|zinc ion binding				0														0.401163	176.516823	177.992224	69	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96162919	96162919	1082	2	C	A	A	32	32	ASTL	A	3	3
STARD7	56910	broad.mit.edu	36	2	96222592	96222592	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96222592G>A	uc002svm.2	-	c.694C>T	c.(694-696)CGG>TGG	p.R232W	STARD7_uc002svl.1_Missense_Mutation_p.R10W	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	START domain containing 7	232	START.					mitochondrion					0														0.179487	13.302045	17.070962	7	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96222592	96222592	15781	2	G	A	A	37	37	STARD7	A	1	1
SNRNP200	23020	broad.mit.edu	36	2	96318538	96318538	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96318538G>A	uc002svu.1	-	c.3138C>T	c.(3136-3138)ATC>ATT	p.I1046I	SNRNP200_uc002svw.1_Silent_p.I118I	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1046	SEC63 1.				cis assembly of pre-catalytic spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|large_intestine(1)|skin(1)	7														0.47619	59.596128	59.616907	20	22	GG		KEEP	---	---	---	---	capture			Silent	SNP	96318538	96318538	15352	2	G	A	A	41	41	SNRNP200	A	2	2
SNRNP200	23020	broad.mit.edu	36	2	96322781	96322781	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96322781C>A	uc002svu.1	-	c.2036G>T	c.(2035-2037)AGC>ATC	p.S679I		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	679					cis assembly of pre-catalytic spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|large_intestine(1)|skin(1)	7														0.279221	103.453377	110.208644	43	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96322781	96322781	15352	2	C	A	A	24	24	SNRNP200	A	3	3
SNRNP200	23020	broad.mit.edu	36	2	96332700	96332700	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96332700T>C	uc002svu.1	-	c.305A>G	c.(304-306)TAC>TGC	p.Y102C		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	102					cis assembly of pre-catalytic spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|large_intestine(1)|skin(1)	7														0.25	461.956469	499.878056	167	501	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96332700	96332700	15352	2	T	C	C	57	57	SNRNP200	C	4	4
ARID5A	10865	broad.mit.edu	36	2	96576942	96576942	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96576942T>C	uc002swe.1	+	c.81T>C	c.(79-81)GCT>GCC	p.A27A	ARID5A_uc002swf.1_5'UTR|ARID5A_uc002swg.1_5'UTR	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	27					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|transcription repressor activity				0														0.2	40.500354	48.033288	18	72	TT		KEEP	---	---	---	---	capture			Silent	SNP	96576942	96576942	936	2	T	C	C	55	55	ARID5A	C	4	4
KIAA1310	55683	broad.mit.edu	36	2	96660903	96660903	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96660903G>A	uc002swn.2	-	c.259C>T	c.(259-261)CCT>TCT	p.P87S	KIAA1310_uc002swh.2_5'UTR|KIAA1310_uc002swi.2_5'UTR|KIAA1310_uc002swj.2_Non-coding_Transcript|KIAA1310_uc002swk.2_5'UTR|KIAA1310_uc002swl.2_5'UTR|KIAA1310_uc002swm.2_Non-coding_Transcript|KIAA1310_uc002swp.1_5'UTR|KIAA1310_uc002swq.1_5'UTR|KIAA1310_uc010fhy.1_5'UTR|KIAA1310_uc010fhz.1_5'UTR	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	87											0														0.272727	14.039369	15.064409	6	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96660903	96660903	8531	2	G	A	A	42	42	KIAA1310	A	2	2
LMAN2L	81562	broad.mit.edu	36	2	96769390	96769390	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96769390G>A	uc002swv.1	-	c.115C>T	c.(115-117)CCA>TCA	p.P39S	LMAN2L_uc002swu.1_Missense_Mutation_p.P39S|LMAN2L_uc002sww.1_5'UTR	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	39					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding				0														0.468085	184.424925	184.550523	66	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96769390	96769390	9168	2	G	A	A	42	42	LMAN2L	A	2	2
CNNM4	26504	broad.mit.edu	36	2	96790973	96790973	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96790973C>A	uc002swx.1	+	c.510C>A	c.(508-510)CTC>CTA	p.L170L		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	170					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3														0.249412	209.707168	234.01711	106	319	CC		KEEP	---	---	---	---	capture			Silent	SNP	96790973	96790973	3753	2	C	A	A	32	32	CNNM4	A	3	3
SEMA4C	54910	broad.mit.edu	36	2	96890886	96890886	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96890886G>A	uc002sxg.2	-	c.1865C>T	c.(1864-1866)GCG>GTG	p.A622V	SEMA4C_uc002sxf.2_Missense_Mutation_p.A69V|SEMA4C_uc002sxh.2_Missense_Mutation_p.A569V|SEMA4C_uc002sxe.2_Missense_Mutation_p.A110V	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C	569	Extracellular (Potential).|Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(1)	1														0.25	32.807429	36.209701	15	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96890886	96890886	14519	2	G	A	A	38	38	SEMA4C	A	1	1
FAHD2B	151313	broad.mit.edu	36	2	97120971	97120971	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:97120971G>A	uc002sxm.1	-	c.200C>T	c.(199-201)ACG>ATG	p.T67M		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	67							hydrolase activity|metal ion binding				0														0.256637	67.425709	73.492076	29	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97120971	97120971	5571	2	G	A	A	40	40	FAHD2B	A	1	1
ZAP70	7535	broad.mit.edu	36	2	97718318	97718318	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:97718318G>A	uc002syd.1	+	c.1256G>A	c.(1255-1257)GGC>GAC	p.G419D	ZAP70_uc002sye.1_Missense_Mutation_p.G309D|ZAP70_uc002syf.1_Missense_Mutation_p.G112D	NM_001079	NP_997402	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	419	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5										138				0.297297	119.717944	126.48213	55	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97718318	97718318	18097	2	G	A	A	42	42	ZAP70	A	2	2
ZAP70	7535	broad.mit.edu	36	2	97720965	97720965	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:97720965G>A	uc002syd.1	+	c.1699G>A	c.(1699-1701)GAA>AAA	p.E567K	ZAP70_uc002sye.1_Missense_Mutation_p.E457K|ZAP70_uc002syf.1_Missense_Mutation_p.E260K	NM_001079	NP_997402	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	567	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5									p.E567K(CL40-Tumor)	138				0.304348	17.417786	18.202656	7	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97720965	97720965	18097	2	G	A	A	37	37	ZAP70	A	1	1
TMEM131	23505	broad.mit.edu	36	2	97740034	97740034	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:97740034G>A	uc002syh.2	-	c.5612C>T	c.(5611-5613)TCG>TTG	p.S1871L	TMEM131_uc002syg.1_Missense_Mutation_p.S251L	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1871						integral to membrane				ovary(4)|central_nervous_system(2)	6														0.25641	46.364582	50.56118	20	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97740034	97740034	16575	2	G	A	A	37	37	TMEM131	A	1	1
VWA3B	200403	broad.mit.edu	36	2	98111266	98111266	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98111266G>A	uc002syo.1	+	c.835G>A	c.(835-837)GCT>ACT	p.A279T	VWA3B_uc002syj.2_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.A279T|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	279										ovary(3)|large_intestine(2)	5														0.302752	83.527314	87.316865	33	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98111266	98111266	17810	2	G	A	A	34	34	VWA3B	A	2	2
VWA3B	200403	broad.mit.edu	36	2	98145758	98145758	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98145758G>A	uc002syo.1	+	c.1001G>A	c.(1000-1002)AGA>AAA	p.R334K	VWA3B_uc002syj.2_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Non-coding_Transcript|VWA3B_uc002sym.2_Missense_Mutation_p.R334K|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	334										ovary(3)|large_intestine(2)	5														0.19403	28.03936	33.889436	13	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98145758	98145758	17810	2	G	A	A	33	33	VWA3B	A	2	2
CNGA3	1261	broad.mit.edu	36	2	98379131	98379131	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98379131C>T	uc002syt.1	+	c.1066C>T	c.(1066-1068)CTC>TTC	p.L356F	CNGA3_uc002syu.1_Missense_Mutation_p.L338F|CNGA3_uc010fij.1_Missense_Mutation_p.L360F	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	356					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.283505	140.93344	149.106073	55	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98379131	98379131	3736	2	C	T	T	32	32	CNGA3	T	2	2
CNGA3	1261	broad.mit.edu	36	2	98379469	98379469	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98379469C>T	uc002syt.1	+	c.1404C>T	c.(1402-1404)ATC>ATT	p.I468I	CNGA3_uc002syu.1_Silent_p.I450I|CNGA3_uc010fij.1_Silent_p.I472I	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	468					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.358491	49.708389	50.643707	19	34	CC		KEEP	---	---	---	---	capture			Silent	SNP	98379469	98379469	3736	2	C	T	T	31	31	CNGA3	T	1	1
INPP4A	3631	broad.mit.edu	36	2	98520815	98520815	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98520815G>T	uc002syy.1	+	c.525G>T	c.(523-525)GAG>GAT	p.E175D	INPP4A_uc002syw.1_Missense_Mutation_p.E175D|INPP4A_uc002syx.1_Missense_Mutation_p.E175D|INPP4A_uc010fik.1_Intron|INPP4A_uc002syv.1_Missense_Mutation_p.E175D	NM_004027	NP_004018	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	175					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1														0.194444	11.700434	14.8415	7	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98520815	98520815	8053	2	G	T	T	33	33	INPP4A	T	3	3
UNC50	25972	broad.mit.edu	36	2	98601174	98601174	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98601174C>A	uc002szc.2	+	c.755C>A	c.(754-756)TCT>TAT	p.S252Y	C2orf64_uc002sza.1_Intron|UNC50_uc002szb.1_Missense_Mutation_p.S252Y|UNC50_uc002szd.1_Missense_Mutation_p.S252Y	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	unc-50 homolog	252	Lumenal (Potential).				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding				0														0.692308	160.366814	162.934745	54	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98601174	98601174	17548	2	C	A	A	32	32	UNC50	A	3	3
C2orf55	343990	broad.mit.edu	36	2	98806064	98806064	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98806064G>A	uc002szf.1	-	c.1104C>T	c.(1102-1104)GGC>GGT	p.G368G		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	368	Pro-rich.										0														0.521739	32.297171	32.306498	12	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	98806064	98806064	2264	2	G	A	A	38	38	C2orf55	A	1	1
C2orf55	343990	broad.mit.edu	36	2	98810034	98810034	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98810034C>T	uc002szf.1	-	c.571G>A	c.(571-573)GAC>AAC	p.D191N		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	191											0														0.285714	101.313072	107.357276	42	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98810034	98810034	2264	2	C	T	T	31	31	C2orf55	T	1	1
C2orf55	343990	broad.mit.edu	36	2	98821118	98821118	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98821118C>T	uc002szf.1	-	c.135G>A	c.(133-135)TCG>TCA	p.S45S		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	45											0														0.269231	48.53889	52.289424	21	57	CC		KEEP	---	---	---	---	capture			Silent	SNP	98821118	98821118	2264	2	C	T	T	27	27	C2orf55	T	1	1
TSGA10	80705	broad.mit.edu	36	2	99091841	99091841	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99091841G>A	uc002szg.2	-	c.97C>T	c.(97-99)CGT>TGT	p.R33C	TSGA10_uc002szh.2_Missense_Mutation_p.R33C|TSGA10_uc002szi.2_Missense_Mutation_p.R33C|TSGA10_uc010fin.1_Missense_Mutation_p.R33C	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	33					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2														0.503937	185.885033	185.886634	64	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99091841	99091841	17168	2	G	A	A	37	37	TSGA10	A	1	1
LYG1	129530	broad.mit.edu	36	2	99274284	99274284	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99274284C>A	uc002szy.1	-	c.181G>T	c.(181-183)GAC>TAC	p.D61Y	MRPL30_uc002szl.1_Intron	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	lysozyme g-like protein 1 precursor	61					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity				0														0.263736	52.751197	57.350754	24	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99274284	99274284	9481	2	C	A	A	32	32	LYG1	A	3	3
EIF5B	9669	broad.mit.edu	36	2	99346747	99346747	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99346747G>A	uc002tab.1	+	c.1127G>A	c.(1126-1128)CGT>CAT	p.R376H		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	376					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(1)|pancreas(1)	2						Colon(162;2388 2567 2705 3444)								0.586957	158.658089	159.265253	54	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99346747	99346747	5235	2	G	A	A	40	40	EIF5B	A	1	1
TAF1B	9014	broad.mit.edu	36	2	9940298	9940298	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:9940298G>A	uc002qzz.1	+	c.720G>A	c.(718-720)GAG>GAA	p.E240E	TAF1B_uc010exc.1_Silent_p.E240E|TAF1B_uc002qzy.2_Silent_p.E240E|TAF1B_uc010exd.1_5'UTR	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	240					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.317308	96.535939	99.623092	33	71	GG		KEEP	---	---	---	---	capture			Silent	SNP	9940298	9940298	16041	2	G	A	A	35	35	TAF1B	A	2	2
REV1	51455	broad.mit.edu	36	2	99421905	99421905	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99421905C>A	uc002tad.1	-	c.803G>T	c.(802-804)AGC>ATC	p.S268I	REV1_uc002tac.1_Missense_Mutation_p.S268I|REV1_uc002tae.1_Missense_Mutation_p.S247I	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	268					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														0.228261	44.940939	51.165165	21	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99421905	99421905	13709	2	C	A	A	28	28	REV1	A	3	3
AFF3	3899	broad.mit.edu	36	2	99994442	99994442	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99994442C>A	uc002taf.1	-	c.77G>T	c.(76-78)AGG>ATG	p.R26M	AFF3_uc002tag.1_Intron|AFF3_uc010fiq.1_Intron|AFF3_uc002tah.1_Missense_Mutation_p.R26M|AFF3_uc010fir.1_Missense_Mutation_p.R78M	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 2	17					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6										693				0.594306	486.9296	489.104995	167	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99994442	99994442	359	2	C	A	A	24	24	AFF3	A	3	3
FANCD2	2177	broad.mit.edu	36	3	10059315	10059315	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:10059315C>A	uc003buw.1	+	c.856C>A	c.(856-858)CTT>ATT	p.L286I	FANCD2_uc003bux.1_Missense_Mutation_p.L286I|FANCD2_uc003buy.1_Missense_Mutation_p.L286I	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	286	Interaction with FANCE.|Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4										587				0.256757	164.634171	180.535451	76	220	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.148)	Missense_Mutation	SNP	10059315	10059315	5901	3	C	A	A	32	32	FANCD2	A	3	3
FANCD2	2177	broad.mit.edu	36	3	10097827	10097827	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:10097827G>T	uc003buw.1	+	c.3020G>T	c.(3019-3021)AGA>ATA	p.R1007I	FANCD2_uc003bux.1_Missense_Mutation_p.R1007I|FANCD2_uc003buy.1_Missense_Mutation_p.R1007I|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1007					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4										587				0.243386	96.941908	108.303731	46	143	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.148)	Missense_Mutation	SNP	10097827	10097827	5901	3	G	T	T	33	33	FANCD2	T	3	3
COL8A1	1295	broad.mit.edu	36	3	100996272	100996272	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:100996272C>T	uc003dti.1	+	c.840C>T	c.(838-840)TTC>TTT	p.F280F	COL8A1_uc003dtg.1_Silent_p.F279F|COL8A1_uc003dth.1_Silent_p.F279F	NM_020351	NP_065084	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	279	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0														0.459184	127.379395	127.529539	45	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	100996272	100996272	3843	3	C	T	T	30	30	COL8A1	T	2	2
FILIP1L	11259	broad.mit.edu	36	3	101051171	101051171	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101051171A>G	uc003dtm.1	-	c.2039T>C	c.(2038-2040)GTT>GCT	p.V680A	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.1_Intron|FILIP1L_uc010hpf.1_Missense_Mutation_p.V256A|FILIP1L_uc010hpg.1_Missense_Mutation_p.V440A|FILIP1L_uc003dtn.1_Missense_Mutation_p.V440A|FILIP1L_uc003dto.1_Missense_Mutation_p.V680A|FILIP1L_uc003dtp.1_Missense_Mutation_p.V440A|FILIP1L_uc010hph.1_Missense_Mutation_p.V440A	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	680	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1														0.5	432.693298	432.693298	125	125	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101051171	101051171	6133	3	A	G	G	2	2	FILIP1L	G	4	4
FILIP1L	11259	broad.mit.edu	36	3	101052153	101052153	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101052153C>A	uc003dtm.1	-	c.1057G>T	c.(1057-1059)GAT>TAT	p.D353Y	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.1_Intron|FILIP1L_uc010hpf.1_Intron|FILIP1L_uc010hpg.1_Missense_Mutation_p.D113Y|FILIP1L_uc003dtn.1_Missense_Mutation_p.D113Y|FILIP1L_uc003dto.1_Missense_Mutation_p.D353Y|FILIP1L_uc003dtp.1_Missense_Mutation_p.D113Y|FILIP1L_uc010hph.1_Missense_Mutation_p.D113Y	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	353	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1														0.438687	683.518421	685.421578	254	325	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101052153	101052153	6133	3	C	A	A	32	32	FILIP1L	A	3	3
C3orf24	115795	broad.mit.edu	36	3	10121397	10121397	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:10121397C>T	uc003buz.1	-	c.62G>A	c.(61-63)CGG>CAG	p.R21Q	C3orf24_uc003bva.1_Missense_Mutation_p.R21Q|C3orf24_uc010hcx.1_Missense_Mutation_p.R21Q	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	hypothetical protein LOC115795	21											0										5				0.256983	100.037865	109.653091	46	133	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.196)	Missense_Mutation	SNP	10121397	10121397	2310	3	C	T	T	23	23	C3orf24	T	1	1
C3orf26	84319	broad.mit.edu	36	3	101363960	101363960	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101363960C>A	uc003dtl.1	+	c.349C>A	c.(349-351)CTG>ATG	p.L117M		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	117							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1														0.483871	212.604349	212.63994	75	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101363960	101363960	2311	3	C	A	A	24	24	C3orf26	A	3	3
LNP1	348801	broad.mit.edu	36	3	101653284	101653284	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101653284A>G	uc010hpi.1	+	c.227A>G	c.(226-228)GAC>GGC	p.D76G	LNP1_uc003dtx.2_Missense_Mutation_p.D63G|LNP1_uc003dty.2_Non-coding_Transcript	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	63											0														0.103093	6.950811	22.274524	10	87	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101653284	101653284	9192	3	A	G	G	10	10	LNP1	G	4	4
GPR128	84873	broad.mit.edu	36	3	101848162	101848162	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101848162G>A	uc003duc.1	+	c.1170G>A	c.(1168-1170)GCG>GCA	p.A390A		NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	390	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						Pancreas(87;185 1975 7223 18722)								0.198718	62.738769	75.917589	31	125	GG		KEEP	---	---	---	---	capture			Silent	SNP	101848162	101848162	6915	3	G	A	A	37	37	GPR128	A	1	1
GPR128	84873	broad.mit.edu	36	3	101856554	101856554	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101856554C>T	uc003duc.1	+	c.1565C>T	c.(1564-1566)CCG>CTG	p.P522L	GPR128_uc003dud.1_Missense_Mutation_p.P45L	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	522	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						Pancreas(87;185 1975 7223 18722)								0.183938	147.590116	183.777983	71	315	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101856554	101856554	6915	3	C	T	T	23	23	GPR128	T	1	1
GPR128	84873	broad.mit.edu	36	3	101896332	101896332	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101896332G>A	uc003duc.1	+	c.2191G>A	c.(2191-2193)GCT>ACT	p.A731T	GPR128_uc003dud.1_Missense_Mutation_p.A254T	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	731	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						Pancreas(87;185 1975 7223 18722)								0.19708	51.935969	63.662449	27	110	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101896332	101896332	6915	3	G	A	A	34	34	GPR128	A	2	2
GPR128	84873	broad.mit.edu	36	3	101896442	101896442	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101896442A>G	uc003duc.1	+	c.2301A>G	c.(2299-2301)CCA>CCG	p.P767P	GPR128_uc003dud.1_Silent_p.P290P	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	767	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						Pancreas(87;185 1975 7223 18722)								0.169399	63.222309	82.146814	31	152	AA		KEEP	---	---	---	---	capture			Silent	SNP	101896442	101896442	6915	3	A	G	G	5	5	GPR128	G	4	4
ABI3BP	25890	broad.mit.edu	36	3	101954439	101954439	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101954439G>A	uc003dun.1	-	c.2871C>T	c.(2869-2871)GAC>GAT	p.D957D	ABI3BP_uc003duj.1_Silent_p.D537D|ABI3BP_uc003duk.1_Silent_p.D666D|ABI3BP_uc003dul.1_Silent_p.D787D|ABI3BP_uc003dum.1_Silent_p.D368D	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding	957						extracellular space				ovary(2)|large_intestine(1)	3														0.19403	51.866143	63.578079	26	108	GG		KEEP	---	---	---	---	capture			Silent	SNP	101954439	101954439	92	3	G	A	A	36	36	ABI3BP	A	2	2
IMPG2	50939	broad.mit.edu	36	3	102477224	102477224	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:102477224C>T	uc003duq.1	-	c.639G>A	c.(637-639)GAG>GAA	p.E213E		NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	213	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3														0.232258	83.403717	93.595853	36	119	CC		KEEP	---	---	---	---	capture			Silent	SNP	102477224	102477224	8030	3	C	T	T	32	32	IMPG2	T	2	2
SENP7	57337	broad.mit.edu	36	3	102534324	102534324	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:102534324G>T	uc003dut.1	-	c.2553C>A	c.(2551-2553)ATC>ATA	p.I851I	SENP7_uc003duu.1_Silent_p.I786I|SENP7_uc003duv.1_Silent_p.I818I|SENP7_uc003duw.1_Silent_p.I785I|SENP7_uc003dux.1_Silent_p.I687I|SENP7_uc003dus.1_Silent_p.I39I	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	851	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(2)|lung(1)	3														0.186441	59.255	75.577896	33	144	GG		KEEP	---	---	---	---	capture			Silent	SNP	102534324	102534324	14537	3	G	T	T	33	33	SENP7	T	3	3
SENP7	57337	broad.mit.edu	36	3	102543200	102543200	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:102543200C>T	uc003dut.1	-	c.2220G>A	c.(2218-2220)AGG>AGA	p.R740R	SENP7_uc003duu.1_Silent_p.R675R|SENP7_uc003duv.1_Silent_p.R707R|SENP7_uc003duw.1_Silent_p.R674R|SENP7_uc003dux.1_Silent_p.R576R	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	740					proteolysis	nucleus	cysteine-type peptidase activity			ovary(2)|lung(1)	3														0.201258	64.610958	77.802124	32	127	CC		KEEP	---	---	---	---	capture			Silent	SNP	102543200	102543200	14537	3	C	T	T	26	26	SENP7	T	2	2
PCNP	57092	broad.mit.edu	36	3	102781335	102781335	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:102781335G>A	uc003dva.1	+	c.76G>A	c.(76-78)GAA>AAA	p.E26K	PCNP_uc003dvb.1_Intron|PCNP_uc003dvc.1_Intron|PCNP_uc003dvd.1_Missense_Mutation_p.E26K	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear	26					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0														0.234848	71.940498	80.447217	31	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102781335	102781335	12009	3	G	A	A	33	33	PCNP	A	2	2
ZBTB11	27107	broad.mit.edu	36	3	102866668	102866668	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:102866668C>A	uc003dve.2	-	c.1453G>T	c.(1453-1455)GAA>TAA	p.E485*		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.215534	219.304401	257.808507	111	404	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	102866668	102866668	18110	3	C	A	A	30	30	ZBTB11	A	5	3
FAM55C	91775	broad.mit.edu	36	3	103023086	103023086	+	Silent	SNP	G	A	A	rs73143886	by-1000genomes	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:103023086G>A	uc003dvn.1	+	c.1278G>A	c.(1276-1278)GCG>GCA	p.A426A	FAM55C_uc010hpn.1_Silent_p.A426A	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775	426						extracellular region				ovary(1)|pancreas(1)	2														0.204918	49.602606	59.463724	25	97	GG		KEEP	---	---	---	---	capture			Silent	SNP	103023086	103023086	5808	3	G	A	A	37	37	FAM55C	A	1	1
FAM55C	91775	broad.mit.edu	36	3	103023202	103023202	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:103023202G>A	uc003dvn.1	+	c.1394G>A	c.(1393-1395)CGA>CAA	p.R465Q	FAM55C_uc010hpn.1_Missense_Mutation_p.R465Q	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775	465						extracellular region				ovary(1)|pancreas(1)	2														0.188776	69.995138	87.737181	37	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103023202	103023202	5808	3	G	A	A	37	37	FAM55C	A	1	1
ATP2B2	491	broad.mit.edu	36	3	10357251	10357251	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:10357251C>T	uc003bvt.1	-	c.3055G>A	c.(3055-3057)GAG>AAG	p.E1019K	ATP2B2_uc003bvv.1_Missense_Mutation_p.E974K|ATP2B2_uc003bvw.1_Missense_Mutation_p.E974K|ATP2B2_uc010hdo.1_Missense_Mutation_p.E724K|ATP2B2_uc003bvu.1_Missense_Mutation_p.E974K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1019	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|central_nervous_system(1)	4						Ovarian(125;1619 1709 15675 19819 38835)								0.286408	141.352503	149.778417	59	147	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10357251	10357251	1159	3	C	T	T	31	31	ATP2B2	T	1	1
ZPLD1	131368	broad.mit.edu	36	3	103665767	103665767	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:103665767G>A	uc003dvt.1	+	c.791G>A	c.(790-792)CGA>CAA	p.R264Q	ZPLD1_uc003dvs.1_Missense_Mutation_p.R248Q	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	248	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.447284	397.712161	398.47577	140	173	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103665767	103665767	18825	3	G	A	A	37	37	ZPLD1	A	1	1
ATP2B2	491	broad.mit.edu	36	3	10418986	10418986	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:10418986C>A	uc003bvt.1	-	c.444G>T	c.(442-444)GAG>GAT	p.E148D	ATP2B2_uc003bvv.1_Missense_Mutation_p.E148D|ATP2B2_uc003bvw.1_Missense_Mutation_p.E148D|ATP2B2_uc010hdp.1_Missense_Mutation_p.E148D|ATP2B2_uc010hdo.1_De_novo_Start_OutOfFrame|ATP2B2_uc003bvu.1_Missense_Mutation_p.E148D	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	148	Extracellular (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|central_nervous_system(1)	4						Ovarian(125;1619 1709 15675 19819 38835)								0.261261	115.870831	127.393105	58	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10418986	10418986	1159	3	C	A	A	24	24	ATP2B2	A	3	3
ALCAM	214	broad.mit.edu	36	3	106743190	106743190	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:106743190C>T	uc003dvx.1	+	c.882C>T	c.(880-882)AGC>AGT	p.S294S	ALCAM_uc003dvw.1_Silent_p.S294S|ALCAM_uc003dvy.1_Silent_p.S294S|ALCAM_uc010hpp.1_Intron|ALCAM_uc003dvz.1_5'Flank	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	294	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3														0.236364	57.788016	64.783266	26	84	CC		KEEP	---	---	---	---	capture			Silent	SNP	106743190	106743190	490	3	C	T	T	28	28	ALCAM	T	2	2
CBLB	868	broad.mit.edu	36	3	106860573	106860573	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:106860573G>A	uc003dwc.1	-	c.2880C>T	c.(2878-2880)GTC>GTT	p.V960V	CBLB_uc003dwa.1_Silent_p.V175V|CBLB_uc003dwb.1_Silent_p.V381V	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	960	UBA.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			ovary(3)|lung(2)|skin(1)	6						GBM(93;588 1337 9788 29341 43499)								0.2	105.018957	127.211065	53	212	GG		KEEP	---	---	---	---	capture			Silent	SNP	106860573	106860573	2820	3	G	A	A	37	37	CBLB	A	1	1
CBLB	868	broad.mit.edu	36	3	106935645	106935645	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:106935645G>T	uc003dwc.1	-	c.1101C>A	c.(1099-1101)GGC>GGA	p.G367G	CBLB_uc003dwd.1_Silent_p.G367G|CBLB_uc003dwe.1_Silent_p.G367G	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	367	Linker.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			ovary(3)|lung(2)|skin(1)	6						GBM(93;588 1337 9788 29341 43499)								0.208333	52.312849	61.766145	25	95	GG		KEEP	---	---	---	---	capture			Silent	SNP	106935645	106935645	2820	3	G	T	T	34	34	CBLB	T	3	3
CCDC54	84692	broad.mit.edu	36	3	108579735	108579735	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:108579735C>A	uc003dwi.1	+	c.611C>A	c.(610-612)TCC>TAC	p.S204Y		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	204											0														0.462857	223.853358	224.063462	81	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108579735	108579735	2947	3	C	A	A	30	30	CCDC54	A	3	3
BBX	56987	broad.mit.edu	36	3	108974903	108974903	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:108974903G>T	uc010hpr.1	+	c.1645G>T	c.(1645-1647)GAG>TAG	p.E549*	BBX_uc003dwk.2_Nonsense_Mutation_p.E549*|BBX_uc003dwl.2_Intron|BBX_uc010hps.1_Nonsense_Mutation_p.E549*|BBX_uc003dwm.2_Nonsense_Mutation_p.E549*|BBX_uc003dwo.2_5'Flank	NM_020235	NP_064620	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 2	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)	3														0.395161	124.837493	126.032872	49	75	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;0.112)		Nonsense_Mutation	SNP	108974903	108974903	1364	3	G	T	T	33	33	BBX	T	5	3
IFT57	55081	broad.mit.edu	36	3	109423773	109423773	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:109423773G>T	uc003dwx.2	-	c.87C>A	c.(85-87)GTC>GTA	p.V29V		NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	estrogen-related receptor beta like 1	29					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			ovary(1)|skin(1)|pancreas(1)	3														0.188525	39.651462	50.735209	23	99	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		Silent	SNP	109423773	109423773	7863	3	G	T	T	33	33	IFT57	T	3	3
MYH15	22989	broad.mit.edu	36	3	109590571	109590571	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:109590571C>T	uc003dxa.1	-	c.5531G>A	c.(5530-5532)CGC>CAC	p.R1844H		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1844	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.383178	214.388297	216.951582	82	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109590571	109590571	10429	3	C	T	T	27	27	MYH15	T	1	1
MYH15	22989	broad.mit.edu	36	3	109612181	109612181	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:109612181G>A	uc003dxa.1	-	c.4494C>T	c.(4492-4494)AAC>AAT	p.N1498N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1498	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.179894	57.732995	75.95678	34	155	GG		KEEP	---	---	---	---	capture			Silent	SNP	109612181	109612181	10429	3	G	A	A	48	48	MYH15	A	2	2
MYH15	22989	broad.mit.edu	36	3	109646357	109646357	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:109646357G>T	uc003dxa.1	-	c.2535C>A	c.(2533-2535)TTC>TTA	p.F845L		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	845						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.455882	323.425553	323.890755	124	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109646357	109646357	10429	3	G	T	T	33	33	MYH15	T	3	3
DZIP3	9666	broad.mit.edu	36	3	109855770	109855770	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:109855770G>T	uc003dxd.1	+	c.2122G>T	c.(2122-2124)GAT>TAT	p.D708Y	DZIP3_uc003dxf.1_Missense_Mutation_p.D708Y|DZIP3_uc003dxg.1_Missense_Mutation_p.D431Y	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	708					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.440909	266.726546	267.3984	97	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109855770	109855770	5051	3	G	T	T	45	45	DZIP3	T	3	3
TRAT1	50852	broad.mit.edu	36	3	110055389	110055389	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:110055389G>A	uc003dxi.1	+	c.536G>A	c.(535-537)CGT>CAT	p.R179H	TRAT1_uc010hpx.1_Missense_Mutation_p.R142H	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	179	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity				0														0.192171	103.381912	128.260284	54	227	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110055389	110055389	17010	3	G	A	A	40	40	TRAT1	A	1	1
GUCA1C	9626	broad.mit.edu	36	3	110155209	110155209	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:110155209G>T	uc003dxj.1	-	c.91C>A	c.(91-93)CCA>ACA	p.P31T	GUCA1C_uc003dxk.1_Missense_Mutation_p.P31T	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	31	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						NSCLC(157;1360 1999 30631 40189 44208)								0.464407	371.412613	371.740671	137	158	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110155209	110155209	7170	3	G	T	T	41	41	GUCA1C	T	3	3
MORC1	27136	broad.mit.edu	36	3	110206773	110206773	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:110206773G>A	uc003dxl.1	-	c.1847C>T	c.(1846-1848)GCG>GTG	p.A616V		NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	616					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|breast(2)	5														0.49697	232.358595	232.357414	82	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110206773	110206773	10092	3	G	A	A	38	38	MORC1	A	1	1
MORC1	27136	broad.mit.edu	36	3	110302000	110302000	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:110302000G>A	uc003dxl.1	-	c.268C>T	c.(268-270)CTG>TTG	p.L90L		NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	90					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|breast(2)	5														0.375796	337.156293	341.414347	118	196	GG		KEEP	---	---	---	---	capture			Silent	SNP	110302000	110302000	10092	3	G	A	A	34	34	MORC1	A	2	2
SLC6A1	6529	broad.mit.edu	36	3	11042557	11042557	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:11042557C>T	uc010hdq.1	+	c.948C>T	c.(946-948)GTC>GTT	p.V316V		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	316					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1		Ovarian(110;0.0392)			Cocaine(DB00907)|Tiagabine(DB00906)									0.217949	79.960834	91.404045	34	122	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Silent	SNP	11042557	11042557	15170	3	C	T	T	32	32	SLC6A1	T	2	2
DPPA2	151871	broad.mit.edu	36	3	110510611	110510611	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:110510611G>A	uc003dxo.1	-	c.348C>T	c.(346-348)ATC>ATT	p.I116I	DPPA2_uc003dxp.1_Silent_p.I116I	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	116	SAP.					nucleus	nucleic acid binding			ovary(2)	2														0.21021	144.967426	170.848787	70	263	GG		KEEP	---	---	---	---	capture			Silent	SNP	110510611	110510611	4918	3	G	A	A	37	37	DPPA2	A	1	1
DPPA4	55211	broad.mit.edu	36	3	110530535	110530535	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:110530535A>G	uc003dxq.2	-	c.770T>C	c.(769-771)GTT>GCT	p.V257A		NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	257						nucleus	protein binding				0														0.456522	141.546142	141.696796	42	50	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110530535	110530535	4920	3	A	G	G	2	2	DPPA4	G	4	4
PVRL3	25945	broad.mit.edu	36	3	112327832	112327832	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:112327832C>T	uc003dxt.1	+	c.1029C>T	c.(1027-1029)TCC>TCT	p.S343S	PVRL3_uc003dxu.1_Silent_p.S320S	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	343	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity				0														0.548387	168.131861	168.320959	51	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	112327832	112327832	13299	3	C	T	T	22	22	PVRL3	T	2	2
HRH1	3269	broad.mit.edu	36	3	11276951	11276951	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:11276951G>A	uc010hdr.1	+	c.1228G>A	c.(1228-1230)GAA>AAA	p.E410K	HRH1_uc010hds.1_Missense_Mutation_p.E410K|HRH1_uc010hdt.1_Missense_Mutation_p.E410K|HRH1_uc003bwb.2_Missense_Mutation_p.E410K|HRH1_uc010hdu.1_Missense_Mutation_p.E410K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	410	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)									0.293548	225.21083	237.034093	91	219	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11276951	11276951	7647	3	G	A	A	37	37	HRH1	A	1	1
PLCXD2	257068	broad.mit.edu	36	3	112909502	112909502	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:112909502C>T	uc003dxz.1	+	c.203C>T	c.(202-204)TCC>TTC	p.S68F	PLCXD2_uc003dya.1_Missense_Mutation_p.S68F	NM_153268	NP_695000	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X	68	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity				0														0.195122	31.66286	38.764202	16	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112909502	112909502	12468	3	C	T	T	30	30	PLCXD2	T	2	2
PHLDB2	90102	broad.mit.edu	36	3	113154156	113154156	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:113154156C>A	uc010hqa.1	+	c.2679C>A	c.(2677-2679)CTC>CTA	p.L893L	PHLDB2_uc003dyc.1_Silent_p.L877L|PHLDB2_uc003dyd.1_Silent_p.L850L|PHLDB2_uc003dyg.1_Silent_p.L893L|PHLDB2_uc003dyh.1_Silent_p.L850L|PHLDB2_uc003dyi.1_Intron	NM_145753	NP_665696	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	893						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)	4														0.233184	109.770678	124.318157	52	171	CC		KEEP	---	---	---	---	capture			Silent	SNP	113154156	113154156	12276	3	C	A	A	32	32	PHLDB2	A	3	3
ABHD10	55347	broad.mit.edu	36	3	113180669	113180669	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:113180669C>A	uc003dyk.2	+	c.71C>A	c.(70-72)CCC>CAC	p.P24H		NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	24						mitochondrion	serine-type peptidase activity				0														0.219512	35.109393	41.051755	18	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113180669	113180669	75	3	C	A	A	22	22	ABHD10	A	3	3
SLC9A10	285335	broad.mit.edu	36	3	113467791	113467791	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:113467791C>A	uc003dyu.1	-	c.862G>T	c.(862-864)GAA>TAA	p.E288*	SLC9A10_uc010hqc.1_Nonsense_Mutation_p.E288*	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	288					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5														0.19802	73.876599	91.040046	40	162	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	113467791	113467791	15207	3	C	A	A	32	32	SLC9A10	A	5	3
CD200	4345	broad.mit.edu	36	3	113546641	113546641	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:113546641C>T	uc003dyw.1	+	c.312C>T	c.(310-312)AGC>AGT	p.S104S	CD200_uc010hqd.1_5'UTR|CD200_uc003dyx.1_Silent_p.S79S|CD200_uc003dyy.1_5'UTR|CD200_uc003dyz.1_Silent_p.S5S	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	CD200 antigen isoform b	79	Ig-like V-type.|Extracellular (Potential).				regulation of immune response	integral to plasma membrane					0		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)												0.265306	85.784429	93.089874	39	108	CC		KEEP	---	---	---	---	capture			Silent	SNP	113546641	113546641	3107	3	C	T	T	27	27	CD200	T	1	1
BOC	91653	broad.mit.edu	36	3	114479757	114479757	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114479757G>A	uc003dzz.1	+	c.1668G>A	c.(1666-1668)GCG>GCA	p.A556A	BOC_uc003dzx.1_Silent_p.A555A|BOC_uc003dzy.1_Silent_p.A555A|BOC_uc003eab.1_Silent_p.A256A|BOC_uc003eac.2_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO	555	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6														0.205479	98.050625	115.675009	45	174	GG		KEEP	---	---	---	---	capture	Epithelial(53;0.227)		Silent	SNP	114479757	114479757	1506	3	G	A	A	39	39	BOC	A	1	1
BOC	91653	broad.mit.edu	36	3	114485070	114485070	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114485070G>A	uc003dzz.1	+	c.2557G>A	c.(2557-2559)GAC>AAC	p.D853N	BOC_uc003dzx.1_Missense_Mutation_p.D852N|BOC_uc003dzy.1_Missense_Mutation_p.D852N|BOC_uc003eab.1_Missense_Mutation_p.D553N|BOC_uc003eac.2_Missense_Mutation_p.D167N	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO	852	Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6														0.235556	108.732066	123.15883	53	172	GG		KEEP	---	---	---	---	capture	Epithelial(53;0.227)		Missense_Mutation	SNP	114485070	114485070	1506	3	G	A	A	37	37	BOC	A	1	1
SIDT1	54847	broad.mit.edu	36	3	114784977	114784977	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114784977T>C	uc003eak.1	+	c.779T>C	c.(778-780)GTG>GCG	p.V260A	SIDT1_uc003eaj.1_Missense_Mutation_p.V260A	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	260	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5														0.157895	36.487145	49.199882	18	96	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114784977	114784977	14797	3	T	C	C	59	59	SIDT1	C	4	4
SIDT1	54847	broad.mit.edu	36	3	114812544	114812544	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114812544G>T	uc003eak.1	+	c.1721_splice	c.e18-1	p.D574_splice	SIDT1_uc003eaj.1_Splice_Site_SNP_p.D574_splice	NM_017699	NP_060169			SID1 transmembrane family, member 1							integral to membrane				ovary(3)|pancreas(1)|skin(1)	5														0.234848	127.787716	144.793351	62	202	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	114812544	114812544	14797	3	G	T	T	33	33	SIDT1	T	5	3
KIAA2018	205717	broad.mit.edu	36	3	114857756	114857756	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114857756C>A	uc003eam.1	-	c.5463G>T	c.(5461-5463)CAG>CAT	p.Q1821H	KIAA2018_uc003eal.1_Missense_Mutation_p.Q1765H|KIAA2018_uc010hql.1_Intron	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1821						membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.416404	347.70617	349.648299	132	185	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114857756	114857756	8579	3	C	A	A	32	32	KIAA2018	A	3	3
KIAA2018	205717	broad.mit.edu	36	3	114857859	114857859	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114857859T>C	uc003eam.1	-	c.5360A>G	c.(5359-5361)GAC>GGC	p.D1787G	KIAA2018_uc003eal.1_Missense_Mutation_p.D1731G|KIAA2018_uc010hql.1_Intron	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1787						membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.24569	318.153352	345.457232	114	350	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114857859	114857859	8579	3	T	C	C	58	58	KIAA2018	C	4	4
KIAA2018	205717	broad.mit.edu	36	3	114859126	114859126	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114859126C>A	uc003eam.1	-	c.4093G>T	c.(4093-4095)GAC>TAC	p.D1365Y	KIAA2018_uc003eal.1_Missense_Mutation_p.D1309Y|KIAA2018_uc010hql.1_Intron	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1365						membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.451282	238.156082	238.561582	88	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114859126	114859126	8579	3	C	A	A	32	32	KIAA2018	A	3	3
KIAA2018	205717	broad.mit.edu	36	3	114860576	114860576	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114860576C>T	uc003eam.1	-	c.2643G>A	c.(2641-2643)TCG>TCA	p.S881S	KIAA2018_uc003eal.1_Silent_p.S825S|KIAA2018_uc010hql.1_Intron	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	881	Ser-rich.					membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.228324	167.430812	190.882407	79	267	CC		KEEP	---	---	---	---	capture			Silent	SNP	114860576	114860576	8579	3	C	T	T	31	31	KIAA2018	T	1	1
ATP6V1A	523	broad.mit.edu	36	3	114990318	114990318	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114990318C>A	uc003eao.1	+	c.785C>A	c.(784-786)TCT>TAT	p.S262Y		NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	262					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)	2														0.497925	325.418687	325.419867	120	121	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114990318	114990318	1196	3	C	A	A	32	32	ATP6V1A	A	3	3
ATP6V1A	523	broad.mit.edu	36	3	115010908	115010908	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:115010908G>A	uc003eao.1	+	c.1798G>A	c.(1798-1800)GAC>AAC	p.D600N		NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	600					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)	2														0.206349	52.587804	62.65699	26	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115010908	115010908	1196	3	G	A	A	37	37	ATP6V1A	A	1	1
GRAMD1C	54762	broad.mit.edu	36	3	115077063	115077063	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:115077063G>A	uc003eaq.2	+	c.302G>A	c.(301-303)CGA>CAA	p.R101Q	GRAMD1C_uc003eap.1_5'UTR	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	101	GRAM.					integral to membrane				ovary(2)	2														0.463878	352.216938	352.516208	122	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115077063	115077063	7025	3	G	A	A	37	37	GRAMD1C	A	1	1
ZDHHC23	254887	broad.mit.edu	36	3	115157933	115157933	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:115157933C>A	uc003eau.1	+	c.930C>A	c.(928-930)ATC>ATA	p.I310I	ZDHHC23_uc003eav.1_Silent_p.I304I|ZDHHC23_uc003eaw.1_5'Flank	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC domain containing 23	310	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2														0.453125	475.468289	476.207389	174	210	CC		KEEP	---	---	---	---	capture			Silent	SNP	115157933	115157933	18202	3	C	A	A	32	32	ZDHHC23	A	3	3
ZNF80	7634	broad.mit.edu	36	3	115438416	115438416	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:115438416G>A	uc003ebf.1	-	c.196C>T	c.(196-198)CGA>TGA	p.R66*	ZNF80_uc010hqo.1_Nonsense_Mutation_p.R66*	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	66	C2H2-type 1.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GBM(23;986 1114 21716)								0.172043	28.059423	37.500222	16	77	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	115438416	115438416	18766	3	G	A	A	37	37	ZNF80	A	5	1
ZBTB20	26137	broad.mit.edu	36	3	115551971	115551971	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:115551971C>T	uc003ebi.1	-	c.1644G>A	c.(1642-1644)TCG>TCA	p.S548S	ZBTB20_uc003ebj.1_Silent_p.S475S|ZBTB20_uc010hqp.1_Silent_p.S475S|ZBTB20_uc003ebk.1_Silent_p.S475S|ZBTB20_uc003ebl.1_Silent_p.S475S|ZBTB20_uc003ebm.1_Silent_p.S475S|ZBTB20_uc003ebn.1_Silent_p.S475S	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4						NSCLC(69;748 1344 9802 11203 30933)								0.545455	222.648122	222.904825	78	65	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	Silent	SNP	115551971	115551971	18115	3	C	T	T	31	31	ZBTB20	T	1	1
VGLL4	9686	broad.mit.edu	36	3	11581420	11581420	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:11581420C>T	uc010hdx.1	-	c.346G>A	c.(346-348)GCC>ACC	p.A116T	VGLL4_uc003bwf.2_Missense_Mutation_p.A110T|VGLL4_uc003bwg.2_Missense_Mutation_p.A115T|VGLL4_uc010hdv.1_Missense_Mutation_p.A26T|VGLL4_uc010hdw.1_Missense_Mutation_p.A30T	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	vestigial like 4 isoform a	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1														0.303571	33.965877	35.889507	17	39	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	Missense_Mutation	SNP	11581420	11581420	17728	3	C	T	T	26	26	VGLL4	T	2	2
IGSF11	152404	broad.mit.edu	36	3	120104298	120104298	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120104298G>A	uc003ebw.1	-	c.1055C>T	c.(1054-1056)GCC>GTC	p.A352V	IGSF11_uc003ebx.1_Missense_Mutation_p.A328V|IGSF11_uc003eby.1_Missense_Mutation_p.A351V|IGSF11_uc003ebz.1_Missense_Mutation_p.A327V|IGSF11_uc010hqs.1_Missense_Mutation_p.A351V	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	352	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0														0.406716	300.694269	302.739264	109	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120104298	120104298	7899	3	G	A	A	42	42	IGSF11	A	2	2
IGSF11	152404	broad.mit.edu	36	3	120130061	120130061	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120130061C>A	uc003ebw.1	-	c.409G>T	c.(409-411)GGT>TGT	p.G137C	IGSF11_uc003ebx.1_Missense_Mutation_p.G137C|IGSF11_uc003eby.1_Missense_Mutation_p.G136C|IGSF11_uc003ebz.1_Missense_Mutation_p.G136C|IGSF11_uc010hqs.1_Missense_Mutation_p.G136C	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	137	Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0														0.440994	205.497571	205.986628	71	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120130061	120130061	7899	3	C	A	A	23	23	IGSF11	A	3	3
C3orf30	152405	broad.mit.edu	36	3	120349041	120349041	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120349041C>A	uc003ecb.1	+	c.1315C>A	c.(1315-1317)CTT>ATT	p.L439I	IGSF11_uc003eby.1_5'Flank|IGSF11_uc003ebz.1_5'Flank|IGSF11_uc010hqs.1_5'Flank	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	439										ovary(2)	2														0.209756	83.093346	99.095441	43	162	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.222)	Missense_Mutation	SNP	120349041	120349041	2313	3	C	A	A	32	32	C3orf30	A	3	3
B4GALT4	8702	broad.mit.edu	36	3	120431492	120431492	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120431492C>T	uc003ecg.1	-	c.145G>A	c.(145-147)GCT>ACT	p.A49T	B4GALT4_uc003ece.1_Missense_Mutation_p.A49T|B4GALT4_uc003ecf.1_Non-coding_Transcript|B4GALT4_uc003ech.1_Missense_Mutation_p.A49T|B4GALT4_uc003eci.1_Missense_Mutation_p.A49T	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	49	Lumenal (Potential).				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity				0					N-Acetyl-D-glucosamine(DB00141)									0.222222	65.206104	75.447073	32	112	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.222)	Missense_Mutation	SNP	120431492	120431492	1294	3	C	T	T	26	26	B4GALT4	T	2	2
TMEM39A	55254	broad.mit.edu	36	3	120639334	120639334	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120639334G>T	uc003eck.1	-	c.882C>A	c.(880-882)TTC>TTA	p.F294L	TMEM39A_uc003ecl.1_Missense_Mutation_p.F142L	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	294	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2														0.186047	58.885375	74.787995	32	140	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.244)	Missense_Mutation	SNP	120639334	120639334	16700	3	G	T	T	45	45	TMEM39A	T	3	3
PLA1A	51365	broad.mit.edu	36	3	120819572	120819572	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120819572C>A	uc003ecu.1	+	c.771C>A	c.(769-771)ATC>ATA	p.I257I	PLA1A_uc003ecv.1_Silent_p.I241I|PLA1A_uc003ecw.1_Non-coding_Transcript	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	257					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			ovary(1)|central_nervous_system(1)	2														0.205534	194.972753	235.716395	104	402	CC		KEEP	---	---	---	---	capture			Silent	SNP	120819572	120819572	12414	3	C	A	A	32	32	PLA1A	A	3	3
POPDC2	64091	broad.mit.edu	36	3	120861878	120861878	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120861878G>A	uc003ecx.1	-	c.83C>T	c.(82-84)GCT>GTT	p.A28V	POPDC2_uc010hqw.1_Missense_Mutation_p.A28V|POPDC2_uc003ecy.1_Intron	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	28						integral to membrane				central_nervous_system(1)	1														0.429825	134.043202	134.53496	49	65	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.242)	Missense_Mutation	SNP	120861878	120861878	12684	3	G	A	A	34	34	POPDC2	A	2	2
C3orf15	89876	broad.mit.edu	36	3	120945730	120945730	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120945730G>T	uc003ede.2	+	c.1899G>T	c.(1897-1899)AAG>AAT	p.K633N	C3orf15_uc010hqz.1_Missense_Mutation_p.K571N	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	469						mitochondrion	protein binding			ovary(2)|pancreas(1)	3														0.391892	76.45197	77.211216	29	45	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.186)	Missense_Mutation	SNP	120945730	120945730	2301	3	G	T	T	35	35	C3orf15	T	3	3
C3orf15	89876	broad.mit.edu	36	3	120952543	120952543	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120952543T>C	uc003ede.2	+	c.2213T>C	c.(2212-2214)GTT>GCT	p.V738A	C3orf15_uc010hqz.1_Missense_Mutation_p.V676A|C3orf15_uc003edg.2_Non-coding_Transcript|C3orf15_uc003edh.2_Non-coding_Transcript	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	574						mitochondrion	protein binding			ovary(2)|pancreas(1)	3														0.228155	126.729378	140.68632	47	159	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.186)	Missense_Mutation	SNP	120952543	120952543	2301	3	T	C	C	60	60	C3orf15	C	4	4
C3orf15	89876	broad.mit.edu	36	3	120952608	120952608	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120952608G>A	uc003ede.2	+	c.2278G>A	c.(2278-2280)GAA>AAA	p.E760K	C3orf15_uc010hqz.1_Missense_Mutation_p.E698K|C3orf15_uc003edg.2_Non-coding_Transcript|C3orf15_uc003edh.2_Non-coding_Transcript	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	596						mitochondrion	protein binding			ovary(2)|pancreas(1)	3														0.196078	61.165279	74.336107	30	123	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.186)	Missense_Mutation	SNP	120952608	120952608	2301	3	G	A	A	33	33	C3orf15	A	2	2
GSK3B	2932	broad.mit.edu	36	3	121148866	121148866	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:121148866C>A	uc003edn.1	-	c.305G>T	c.(304-306)AGA>ATA	p.R102I	GSK3B_uc003edo.1_Missense_Mutation_p.R102I	NM_002093	NP_002084	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	102	Protein kinase.				axon guidance|canonical Wnt receptor signaling pathway|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 catabolic process|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cytosol|nucleus	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					Lithium(DB01356)					159				0.199029	77.941204	95.323196	41	165	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.24)	Missense_Mutation	SNP	121148866	121148866	7104	3	C	A	A	32	32	GSK3B	A	3	3
GPR156	165829	broad.mit.edu	36	3	121369140	121369140	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:121369140T>C	uc003edq.2	-	c.1874A>G	c.(1873-1875)AAC>AGC	p.N625S		NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	625	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)	1														0.230769	103.650512	114.867252	39	130	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.19)	Missense_Mutation	SNP	121369140	121369140	6936	3	T	C	C	60	60	GPR156	C	4	4
GPR156	165829	broad.mit.edu	36	3	121394952	121394952	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:121394952C>A	uc003edq.2	-	c.243G>T	c.(241-243)AAG>AAT	p.K81N		NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	81	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)	1														0.223301	44.758197	52.022245	23	80	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.19)	Missense_Mutation	SNP	121394952	121394952	6936	3	C	A	A	32	32	GPR156	A	3	3
SYN2	6854	broad.mit.edu	36	3	12167752	12167752	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:12167752G>A	uc003bwm.1	+	c.700G>A	c.(700-702)GCT>ACT	p.A234T	SYN2_uc003bwl.1_Missense_Mutation_p.A234T|SYN2_uc003bwn.1_5'UTR	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	synapsin II isoform IIa	234					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2														0.26087	14.139516	15.330161	6	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12167752	12167752	15962	3	G	A	A	38	38	SYN2	A	1	1
GTF2E1	2960	broad.mit.edu	36	3	121952294	121952294	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:121952294G>T	uc003edz.2	+	c.205G>T	c.(205-207)GAC>TAC	p.D69Y	GTF2E1_uc003edy.2_Missense_Mutation_p.D69Y	NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	69	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1														0.404412	143.082832	144.172769	55	81	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.159)	Missense_Mutation	SNP	121952294	121952294	7136	3	G	T	T	33	33	GTF2E1	T	3	3
STXBP5L	9515	broad.mit.edu	36	3	122247073	122247073	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122247073G>A	uc003eec.2	+	c.470_splice	c.e5+1	p.R157_splice		NM_014980	NP_055795			syntaxin binding protein 5-like						exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7														0.41502	284.224757	285.81998	105	148	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0694)	Splice_Site_SNP	SNP	122247073	122247073	15877	3	G	A	A	44	44	STXBP5L	A	5	2
POLQ	10721	broad.mit.edu	36	3	122689519	122689519	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122689519G>A	uc003eee.2	-	c.4949C>T	c.(4948-4950)TCC>TTC	p.S1650F	POLQ_uc003eed.1_Missense_Mutation_p.S822F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1650					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5						Pancreas(152;907 1925 26081 31236 36904)								0.420896	406.803261	408.635924	141	194	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0915)	Missense_Mutation	SNP	122689519	122689519	12636	3	G	A	A	41	41	POLQ	A	2	2
POLQ	10721	broad.mit.edu	36	3	122690179	122690179	+	Nonsense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122690179A>T	uc003eee.2	-	c.4289T>A	c.(4288-4290)TTA>TAA	p.L1430*	POLQ_uc003eed.1_Nonsense_Mutation_p.L602*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1430					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5						Pancreas(152;907 1925 26081 31236 36904)								0.212121	85.155348	100.317569	42	156	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0915)	Nonsense_Mutation	SNP	122690179	122690179	12636	3	A	T	T	13	13	POLQ	T	5	4
POLQ	10721	broad.mit.edu	36	3	122700063	122700063	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122700063C>T	uc003eee.2	-	c.2104G>A	c.(2104-2106)GTA>ATA	p.V702I		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	702					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5						Pancreas(152;907 1925 26081 31236 36904)								0.398671	337.298904	339.980134	120	181	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0915)	Missense_Mutation	SNP	122700063	122700063	12636	3	C	T	T	20	20	POLQ	T	2	2
POLQ	10721	broad.mit.edu	36	3	122734624	122734624	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122734624C>T	uc003eee.2	-	c.863G>A	c.(862-864)CGC>CAC	p.R288H		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	288					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5						Pancreas(152;907 1925 26081 31236 36904)								0.450292	205.640055	206.008727	77	94	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0915)	Missense_Mutation	SNP	122734624	122734624	12636	3	C	T	T	27	27	POLQ	T	1	1
POLQ	10721	broad.mit.edu	36	3	122742884	122742884	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122742884A>G	uc003eee.2	-	c.474_splice	c.e3+1	p.Q158_splice		NM_199420	NP_955452			DNA polymerase theta						DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5						Pancreas(152;907 1925 26081 31236 36904)								0.420779	545.850608	547.94222	162	223	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0915)	Splice_Site_SNP	SNP	122742884	122742884	12636	3	A	G	G	14	14	POLQ	G	5	4
POLQ	10721	broad.mit.edu	36	3	122742946	122742946	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122742946C>A	uc003eee.2	-	c.414G>T	c.(412-414)AAG>AAT	p.K138N		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	138	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5						Pancreas(152;907 1925 26081 31236 36904)								0.469388	618.837349	619.241961	230	260	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0915)	Missense_Mutation	SNP	122742946	122742946	12636	3	C	A	A	32	32	POLQ	A	3	3
HCLS1	3059	broad.mit.edu	36	3	122833646	122833646	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122833646T>C	uc003eeh.2	-	c.1316A>G	c.(1315-1317)TAC>TGC	p.Y439C		NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	439	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|regulation of transcription, DNA-dependent|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.5	537.38284	537.38284	159	159	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0912)	Missense_Mutation	SNP	122833646	122833646	7277	3	T	C	C	57	57	HCLS1	C	4	4
HCLS1	3059	broad.mit.edu	36	3	122834630	122834630	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122834630G>T	uc003eeh.2	-	c.982C>A	c.(982-984)CTG>ATG	p.L328M		NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	328					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|regulation of transcription, DNA-dependent|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.148148	11.961616	18.382679	8	46	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0912)	Missense_Mutation	SNP	122834630	122834630	7277	3	G	T	T	34	34	HCLS1	T	3	3
HCLS1	3059	broad.mit.edu	36	3	122835879	122835879	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122835879C>T	uc003eeh.2	-	c.768G>A	c.(766-768)GAG>GAA	p.E256E		NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	256					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|regulation of transcription, DNA-dependent|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.222826	95.104039	108.087128	41	143	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0912)	Silent	SNP	122835879	122835879	7277	3	C	T	T	32	32	HCLS1	T	2	2
GOLGB1	2804	broad.mit.edu	36	3	122866468	122866468	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122866468G>A	uc010hrc.1	-	c.9670C>T	c.(9670-9672)CGA>TGA	p.R3224*	GOLGB1_uc003eei.2_Nonsense_Mutation_p.R3214*|GOLGB1_uc003eej.2_Nonsense_Mutation_p.R3180*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3214	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)	8														0.164474	40.579478	56.831706	25	127	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0989)	Nonsense_Mutation	SNP	122866468	122866468	6838	3	G	A	A	37	37	GOLGB1	A	5	1
GOLGB1	2804	broad.mit.edu	36	3	122893349	122893349	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122893349G>A	uc010hrc.1	-	c.7552C>T	c.(7552-7554)CGA>TGA	p.R2518*	GOLGB1_uc003eei.2_Nonsense_Mutation_p.R2513*|GOLGB1_uc003eej.2_Nonsense_Mutation_p.R2479*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2513	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)	8														0.414035	628.26846	631.948572	236	334	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0989)	Nonsense_Mutation	SNP	122893349	122893349	6838	3	G	A	A	40	40	GOLGB1	A	5	1
GOLGB1	2804	broad.mit.edu	36	3	122897767	122897767	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122897767C>A	uc010hrc.1	-	c.4293G>T	c.(4291-4293)CAG>CAT	p.Q1431H	GOLGB1_uc003eei.2_Missense_Mutation_p.Q1426H|GOLGB1_uc003eej.2_Missense_Mutation_p.Q1392H|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q1390H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1426	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)	8														0.471178	512.215113	512.50724	188	211	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0989)	Missense_Mutation	SNP	122897767	122897767	6838	3	C	A	A	32	32	GOLGB1	A	3	3
IQCB1	9657	broad.mit.edu	36	3	122974246	122974246	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122974246G>T	uc010hre.1	-	c.1415C>A	c.(1414-1416)TCT>TAT	p.S472Y	IQCB1_uc003eek.2_Missense_Mutation_p.S339Y|IQCB1_uc010hrf.1_Non-coding_Transcript	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	472					maintenance of organ identity|photoreceptor cell maintenance	photoreceptor connecting cilium	calmodulin binding				0														0.209302	103.082988	123.291763	54	204	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0983)	Missense_Mutation	SNP	122974246	122974246	8104	3	G	T	T	33	33	IQCB1	T	3	3
SLC15A2	6565	broad.mit.edu	36	3	123129330	123129330	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123129330C>T	uc003eep.1	+	c.1160C>T	c.(1159-1161)GCA>GTA	p.A387V		NM_021082	NP_066568	Q16348	S15A2_HUMAN	solute carrier family 15 (H+/peptide	387	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding				0					Cefadroxil(DB01140)									0.222973	65.983427	76.444834	33	115	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0967)	Missense_Mutation	SNP	123129330	123129330	14894	3	C	T	T	25	25	SLC15A2	T	2	2
ILDR1	286676	broad.mit.edu	36	3	123223566	123223566	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123223566G>A	uc003ees.1	-	c.49C>T	c.(49-51)CTC>TTC	p.L17F	ILDR1_uc003eer.1_Missense_Mutation_p.L17F|ILDR1_uc010hrg.1_Missense_Mutation_p.L17F	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	17						cytosol|integral to membrane|plasma membrane	receptor activity				0														0.441176	43.41745	43.520389	15	19	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.156)	Missense_Mutation	SNP	123223566	123223566	8010	3	G	A	A	34	34	ILDR1	A	2	2
CASR	846	broad.mit.edu	36	3	123463079	123463079	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123463079C>A	uc003eew.2	+	c.507C>A	c.(505-507)TCC>TCA	p.S169S	CASR_uc003eev.2_Silent_p.S169S	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	169	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4					Cinacalcet(DB01012)									0.187032	139.774948	176.58343	75	326	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.226)	Silent	SNP	123463079	123463079	2801	3	C	A	A	24	24	CASR	A	3	3
CASR	846	broad.mit.edu	36	3	123485382	123485382	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123485382C>T	uc003eew.2	+	c.1921C>T	c.(1921-1923)CTG>TTG	p.L641L	CASR_uc003eev.2_Silent_p.L631L	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	631	Helical; Name=1; (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4					Cinacalcet(DB01012)									0.171875	58.881952	78.402235	33	159	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.226)	Silent	SNP	123485382	123485382	2801	3	C	T	T	28	28	CASR	T	2	2
PARP9	83666	broad.mit.edu	36	3	123752177	123752177	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123752177T>G	uc010hri.1	-	c.1375A>C	c.(1375-1377)AAA>CAA	p.K459Q	PARP9_uc003eff.2_Missense_Mutation_p.K424Q|PARP9_uc003efg.1_Intron|PARP9_uc003efh.1_Missense_Mutation_p.K459Q|PARP9_uc003efi.1_Missense_Mutation_p.K424Q|PARP9_uc003efj.1_Missense_Mutation_p.K424Q	NM_031458	NP_113646	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	459	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)	2										175				0.205357	58.564225	67.580443	23	89	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0519)	Missense_Mutation	SNP	123752177	123752177	11883	3	T	G	G	64	64	PARP9	G	4	4
DTX3L	151636	broad.mit.edu	36	3	123770442	123770442	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123770442A>G	uc003efk.1	+	c.816A>G	c.(814-816)CCA>CCG	p.P272P	DTX3L_uc010hrj.1_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	272					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|breast(1)	3														0.15894	44.709177	61.442274	24	127	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0459)	Silent	SNP	123770442	123770442	4981	3	A	G	G	5	5	DTX3L	G	4	4
DTX3L	151636	broad.mit.edu	36	3	123770940	123770940	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123770940C>T	uc003efk.1	+	c.1314C>T	c.(1312-1314)ATC>ATT	p.I438I	DTX3L_uc010hrj.1_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	438					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|breast(1)	3														0.221122	144.465906	166.157826	67	236	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0459)	Silent	SNP	123770940	123770940	4981	3	C	T	T	31	31	DTX3L	T	1	1
PARP15	165631	broad.mit.edu	36	3	123837378	123837378	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123837378C>A	uc003efm.2	+	c.1778C>A	c.(1777-1779)GCT>GAT	p.A593D	PARP15_uc003efn.2_Missense_Mutation_p.A398D|PARP15_uc003efo.1_Missense_Mutation_p.A340D|PARP15_uc003efp.1_Missense_Mutation_p.A359D	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	571	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			ovary(1)	1														0.211155	112.325178	131.704335	53	198	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0531)	Missense_Mutation	SNP	123837378	123837378	11876	3	C	A	A	28	28	PARP15	A	3	3
SEMA5B	54437	broad.mit.edu	36	3	124112472	124112472	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:124112472C>T	uc003efz.1	-	c.3202G>A	c.(3202-3204)GAG>AAG	p.E1068K	SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.E1068K|SEMA5B_uc003efy.1_Missense_Mutation_p.E46K	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1068	Cytoplasmic (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7										383				0.203822	66.239316	79.004829	32	125	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0367)	Missense_Mutation	SNP	124112472	124112472	14524	3	C	T	T	30	30	SEMA5B	T	2	2
ADCY5	111	broad.mit.edu	36	3	124534194	124534194	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:124534194G>A	uc003egh.1	-	c.1425C>T	c.(1423-1425)ATC>ATT	p.I475I	ADCY5_uc003egg.1_Silent_p.I108I|ADCY5_uc003egi.1_Silent_p.I34I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	475	Guanylate cyclase 1.|Cytoplasmic (Potential).	Magnesium 2; via carbonyl oxygen (By similarity).			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														0.444444	78.487813	78.657689	28	35	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0342)	Silent	SNP	124534194	124534194	298	3	G	A	A	37	37	ADCY5	A	1	1
MYLK	4638	broad.mit.edu	36	3	124831130	124831130	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:124831130G>A	uc003ego.1	-	c.4995C>T	c.(4993-4995)AAC>AAT	p.N1665N	MYLK_uc003egp.1_Silent_p.N1596N|MYLK_uc003egq.1_Intron|MYLK_uc003egr.1_Intron|MYLK_uc003egs.1_Silent_p.N1489N|MYLK_uc010hrr.1_Silent_p.N100N|MYLK_uc003egn.1_Silent_p.N856N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1665	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)								766				0.408284	185.231697	186.476265	69	100	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0736)	Silent	SNP	124831130	124831130	10451	3	G	A	A	40	40	MYLK	A	1	1
MYLK	4638	broad.mit.edu	36	3	124858704	124858704	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:124858704C>A	uc003ego.1	-	c.4247G>T	c.(4246-4248)AGC>ATC	p.S1416I	MYLK_uc003egp.1_Missense_Mutation_p.S1347I|MYLK_uc003egq.1_Missense_Mutation_p.S1416I|MYLK_uc003egr.1_Missense_Mutation_p.S1347I|MYLK_uc003egs.1_Missense_Mutation_p.S1240I|MYLK_uc010hrr.1_5'UTR|MYLK_uc003egn.1_Missense_Mutation_p.S607I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1416	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)								766				0.194737	72.680416	89.186095	37	153	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0736)	Missense_Mutation	SNP	124858704	124858704	10451	3	C	A	A	28	28	MYLK	A	3	3
CCDC14	64770	broad.mit.edu	36	3	125116322	125116322	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:125116322C>A	uc010hrt.1	-	c.2733G>T	c.(2731-2733)GAG>GAT	p.E911D	CCDC14_uc003egw.2_Missense_Mutation_p.E792D|CCDC14_uc003egv.2_Missense_Mutation_p.E593D|CCDC14_uc003egx.2_Missense_Mutation_p.E752D|CCDC14_uc003egy.2_Missense_Mutation_p.E752D|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	952											0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)												0.5	22.297872	22.297872	8	8	CC		KEEP	---	---	---	---	capture		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	Missense_Mutation	SNP	125116322	125116322	2893	3	C	A	A	32	32	CCDC14	A	3	3
KALRN	8997	broad.mit.edu	36	3	125586504	125586504	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:125586504C>T	uc003ehg.1	+	c.1887C>T	c.(1885-1887)TTC>TTT	p.F629F	KALRN_uc010hrv.1_Silent_p.F629F|KALRN_uc003ehf.1_Silent_p.F629F|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	629	Spectrin 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5									p.F629F(A498-Tumor)	1865				0.163462	53.312259	75.710888	34	174	CC		KEEP	---	---	---	---	capture			Silent	SNP	125586504	125586504	8279	3	C	T	T	31	31	KALRN	T	1	1
KALRN	8997	broad.mit.edu	36	3	125656894	125656894	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:125656894G>T	uc003ehg.1	+	c.3727G>T	c.(3727-3729)GAG>TAG	p.E1243*	KALRN_uc010hrv.1_Nonsense_Mutation_p.E1234*|KALRN_uc003ehf.1_Nonsense_Mutation_p.E1243*|KALRN_uc003ehh.1_Nonsense_Mutation_p.E589*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1243					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.432836	151.509623	152.039999	58	76	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	125656894	125656894	8279	3	G	T	T	33	33	KALRN	T	5	3
KALRN	8997	broad.mit.edu	36	3	125914503	125914503	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:125914503C>T	uc003ehg.1	+	c.8107C>T	c.(8107-8109)CAC>TAC	p.H2703Y	KALRN_uc003ehk.1_Missense_Mutation_p.H1006Y	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2702	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.166667	34.886524	48.171969	21	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125914503	125914503	8279	3	C	T	T	29	29	KALRN	T	2	2
KALRN	8997	broad.mit.edu	36	3	125920539	125920539	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:125920539C>A	uc003ehg.1	+	c.8493C>A	c.(8491-8493)ATC>ATA	p.I2831I	KALRN_uc003ehk.1_Silent_p.I1134I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2830	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.195946	52.477559	65.245282	29	119	CC		KEEP	---	---	---	---	capture			Silent	SNP	125920539	125920539	8279	3	C	A	A	32	32	KALRN	A	3	3
KALRN	8997	broad.mit.edu	36	3	125920816	125920816	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:125920816C>T	uc003ehg.1	+	c.8770C>T	c.(8770-8772)CGG>TGG	p.R2924W	KALRN_uc003ehk.1_Missense_Mutation_p.R1227W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2923	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.467213	155.966293	156.078007	57	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125920816	125920816	8279	3	C	T	T	31	31	KALRN	T	1	1
MUC13	56667	broad.mit.edu	36	3	126129102	126129102	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:126129102C>T	uc003ehq.1	-	c.478G>A	c.(478-480)GCT>ACT	p.A160T		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, epithelial transmembrane	160	Thr-rich.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0														0.419162	374.50028	376.413411	140	194	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126129102	126129102	10365	3	C	T	T	27	27	MUC13	T	1	1
HEG1	57493	broad.mit.edu	36	3	126175429	126175429	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:126175429T>G	uc003ehs.2	-	c.3832A>C	c.(3832-3834)AAT>CAT	p.N1278H	HEG1_uc003ehr.2_Missense_Mutation_p.N132H	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1	1278	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2														0.409524	139.409558	140.159365	43	62	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126175429	126175429	7327	3	T	G	G	64	64	HEG1	G	4	4
SLC12A8	84561	broad.mit.edu	36	3	126309358	126309358	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:126309358C>T	uc003ehw.2	-	c.1449G>A	c.(1447-1449)ACG>ACA	p.T483T	SLC12A8_uc003ehv.2_Silent_p.T454T|SLC12A8_uc003eht.2_Silent_p.T255T|SLC12A8_uc003ehu.2_Silent_p.T207T|SLC12A8_uc010hry.1_Silent_p.T207T	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	454					potassium ion transport	integral to membrane	symporter activity				0														0.458333	266.215883	266.53725	99	117	CC		KEEP	---	---	---	---	capture			Silent	SNP	126309358	126309358	14884	3	C	T	T	27	27	SLC12A8	T	1	1
SLC12A8	84561	broad.mit.edu	36	3	126337216	126337216	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:126337216G>A	uc003ehw.2	-	c.810C>T	c.(808-810)TTC>TTT	p.F270F	SLC12A8_uc003ehv.2_Silent_p.F241F|SLC12A8_uc010hrz.1_Silent_p.F106F	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	241	Helical; (Potential).				potassium ion transport	integral to membrane	symporter activity				0														0.164557	21.020841	29.467361	13	66	GG		KEEP	---	---	---	---	capture			Silent	SNP	126337216	126337216	14884	3	G	A	A	41	41	SLC12A8	A	2	2
ZNF148	7707	broad.mit.edu	36	3	126434266	126434266	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:126434266G>T	uc003ehx.2	-	c.1994C>A	c.(1993-1995)TCT>TAT	p.S665Y	SLC12A8_uc003ehw.2_Intron|ZNF148_uc003ehz.2_Missense_Mutation_p.S665Y|ZNF148_uc010hsa.1_Missense_Mutation_p.S665Y|ZNF148_uc003eia.2_Missense_Mutation_p.S665Y|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	665					cellular defense response|negative regulation of transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|specific RNA polymerase II transcription factor activity|transcription repressor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.167059	112.840209	157.528368	71	354	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126434266	126434266	18325	3	G	T	T	33	33	ZNF148	T	3	3
OSBPL11	114885	broad.mit.edu	36	3	126753897	126753897	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:126753897G>T	uc003eic.1	-	c.1472C>A	c.(1471-1473)TCT>TAT	p.S491Y		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	491					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5														0.419643	119.888918	120.523482	47	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126753897	126753897	11687	3	G	T	T	33	33	OSBPL11	T	3	3
OSBPL11	114885	broad.mit.edu	36	3	126769027	126769027	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:126769027G>A	uc003eic.1	-	c.769C>T	c.(769-771)CTC>TTC	p.L257F		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	257					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5														0.249169	176.676388	193.901253	75	226	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126769027	126769027	11687	3	G	A	A	34	34	OSBPL11	A	2	2
ROPN1B	152015	broad.mit.edu	36	3	127183914	127183914	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:127183914G>T	uc003eih.1	+	c.508G>T	c.(508-510)GAA>TAA	p.E170*	ROPN1B_uc010hsb.1_Nonsense_Mutation_p.E170*|ROPN1B_uc010hsc.1_Nonsense_Mutation_p.E78*	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	170					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0														0.225532	120.256656	136.516928	53	182	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.151)	Nonsense_Mutation	SNP	127183914	127183914	14003	3	G	T	T	37	37	ROPN1B	T	5	3
SLC41A3	54946	broad.mit.edu	36	3	127269728	127269728	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:127269728G>A	uc003eij.1	-	c.25C>T	c.(25-27)CGG>TGG	p.R9W	SLC41A3_uc003eil.1_Missense_Mutation_p.R9W|SLC41A3_uc003eik.1_Missense_Mutation_p.R9W|SLC41A3_uc010hsd.1_Missense_Mutation_p.R9W	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	9						integral to membrane|plasma membrane	cation transmembrane transporter activity				0														0.427746	187.295571	188.08545	74	99	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.167)	Missense_Mutation	SNP	127269728	127269728	15128	3	G	A	A	38	38	SLC41A3	A	1	1
ALDH1L1	10840	broad.mit.edu	36	3	127314381	127314381	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:127314381C>A	uc003eim.1	-	c.2115G>T	c.(2113-2115)GAG>GAT	p.E705D	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc003ein.1_Missense_Mutation_p.E240D	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	705	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process|oxidation-reduction process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3					Tetrahydrofolic acid(DB00116)									0.427673	182.356134	183.085013	68	91	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0462)	Missense_Mutation	SNP	127314381	127314381	497	3	C	A	A	32	32	ALDH1L1	A	3	3
ALDH1L1	10840	broad.mit.edu	36	3	127355091	127355091	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:127355091C>T	uc003eim.1	-	c.744G>A	c.(742-744)ACG>ACA	p.T248T	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Silent_p.T274T|ALDH1L1_uc003eip.1_Silent_p.T155T	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	248					10-formyltetrahydrofolate catabolic process|biosynthetic process|oxidation-reduction process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3					Tetrahydrofolic acid(DB00116)									0.185714	47.794335	60.739025	26	114	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0462)	Silent	SNP	127355091	127355091	497	3	C	T	T	27	27	ALDH1L1	T	1	1
CCDC37	348807	broad.mit.edu	36	3	127624861	127624861	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:127624861G>A	uc010hsg.1	+	c.1089G>A	c.(1087-1089)TCG>TCA	p.S363S	CCDC37_uc003eiu.1_Silent_p.S362S	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	362										ovary(1)	1														0.202703	29.986471	36.059971	15	59	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.166)	Silent	SNP	127624861	127624861	2931	3	G	A	A	37	37	CCDC37	A	1	1
C3orf22	152065	broad.mit.edu	36	3	127751504	127751504	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:127751504C>T	uc003ejb.1	-	c.323G>A	c.(322-324)CGC>CAC	p.R108H		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	hypothetical protein LOC152065	108											0														0.214876	51.483783	60.568037	26	95	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.147)	Missense_Mutation	SNP	127751504	127751504	2308	3	C	T	T	27	27	C3orf22	T	1	1
CHCHD6	84303	broad.mit.edu	36	3	128116230	128116230	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128116230A>G	uc010hsj.1	+	c.516A>G	c.(514-516)AAA>AAG	p.K172K	CHCHD6_uc003ejf.1_Silent_p.K171K	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain	171											0														0.215569	95.215859	107.678102	36	131	AA		KEEP	---	---	---	---	capture			Silent	SNP	128116230	128116230	3454	3	A	G	G	2	2	CHCHD6	G	4	4
PLXNA1	5361	broad.mit.edu	36	3	128190972	128190972	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128190972C>T	uc003ejg.1	+	c.777C>T	c.(775-777)ATC>ATT	p.I259I		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	282	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)	2														0.451791	455.9302	456.667372	164	199	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.155)	Silent	SNP	128190972	128190972	12545	3	C	T	T	31	31	PLXNA1	T	1	1
PLXNA1	5361	broad.mit.edu	36	3	128191319	128191319	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128191319C>T	uc003ejg.1	+	c.1124C>T	c.(1123-1125)TCG>TTG	p.S375L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	398	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)	2														0.41958	161.97118	162.778321	60	83	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.155)	Missense_Mutation	SNP	128191319	128191319	12545	3	C	T	T	31	31	PLXNA1	T	1	1
PLXNA1	5361	broad.mit.edu	36	3	128231871	128231871	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128231871C>T	uc003ejg.1	+	c.5088C>T	c.(5086-5088)TTC>TTT	p.F1696F	PLXNA1_uc003ejh.1_Silent_p.F364F	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1719	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)	2														0.203187	101.179615	121.72118	51	200	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.155)	Silent	SNP	128231871	128231871	12545	3	C	T	T	31	31	PLXNA1	T	1	1
CAND2	23066	broad.mit.edu	36	3	12833079	12833079	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:12833079C>T	uc003bxj.1	+	c.1369C>T	c.(1369-1371)CGG>TGG	p.R457W	CAND2_uc003bxk.1_Missense_Mutation_p.R54W	NM_012298	NP_036430	O75155	CAND2_HUMAN	TBP-interacting protein	550	HEAT 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|transcription activator activity			pancreas(1)	1						GBM(43;676 868 1633 6395 37496)								0.3	52.181327	55.03458	24	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12833079	12833079	2733	3	C	T	T	27	27	CAND2	T	1	1
RPL32	6161	broad.mit.edu	36	3	12852673	12852673	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:12852673C>T	uc003bxl.1	-	c.328G>A	c.(328-330)GCC>ACC	p.A110T	RPL32_uc003bxm.1_Missense_Mutation_p.A110T|RPL32_uc003bxn.1_Missense_Mutation_p.A110T	NM_001007074	NP_001007075	P62910	RL32_HUMAN	ribosomal protein L32	110					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			ovary(1)	1														0.587719	205.530865	206.294517	67	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12852673	12852673	14061	3	C	T	T	28	28	RPL32	T	2	2
RPL32	6161	broad.mit.edu	36	3	12855973	12855973	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:12855973G>A	uc003bxl.1	-	c.153C>T	c.(151-153)GGC>GGT	p.G51G	RPL32_uc003bxm.1_Silent_p.G51G|RPL32_uc003bxn.1_Silent_p.G51G	NM_001007074	NP_001007075	P62910	RL32_HUMAN	ribosomal protein L32	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			ovary(1)	1														0.26935	416.574442	447.585667	174	472	GG		KEEP	---	---	---	---	capture			Silent	SNP	12855973	12855973	14061	3	G	A	A	42	42	RPL32	A	2	2
MCM2	4171	broad.mit.edu	36	3	128800896	128800896	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128800896C>T	uc003ejp.1	+	c.52C>T	c.(52-54)CGG>TGG	p.R18W	MCM2_uc010hsl.1_Non-coding_Transcript	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	18	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4														0.389864	533.114862	538.549577	200	313	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128800896	128800896	9775	3	C	T	T	31	31	MCM2	T	1	1
MCM2	4171	broad.mit.edu	36	3	128808251	128808251	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128808251C>T	uc003ejp.1	+	c.1002C>T	c.(1000-1002)TTC>TTT	p.F334F	MCM2_uc010hsl.1_Non-coding_Transcript	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	334	C4-type (Potential).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4														0.428016	307.839388	308.992345	110	147	CC		KEEP	---	---	---	---	capture			Silent	SNP	128808251	128808251	9775	3	C	T	T	31	31	MCM2	T	1	1
MCM2	4171	broad.mit.edu	36	3	128818886	128818886	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128818886C>T	uc003ejp.1	+	c.1848C>T	c.(1846-1848)ATC>ATT	p.I616I	MCM2_uc010hsl.1_Non-coding_Transcript	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	616	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4														0.194444	26.417825	32.683236	14	58	CC		KEEP	---	---	---	---	capture			Silent	SNP	128818886	128818886	9775	3	C	T	T	31	31	MCM2	T	1	1
MCM2	4171	broad.mit.edu	36	3	128822633	128822633	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128822633C>T	uc003ejp.1	+	c.2476C>T	c.(2476-2478)CGT>TGT	p.R826C	MCM2_uc010hsl.1_Non-coding_Transcript	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	826					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4														0.466184	540.418828	540.831819	193	221	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128822633	128822633	9775	3	C	T	T	27	27	MCM2	T	1	1
PODXL2	50512	broad.mit.edu	36	3	128863818	128863818	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128863818C>T	uc003ejq.2	+	c.1180C>T	c.(1180-1182)CTG>TTG	p.L394L		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	394	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2														0.425287	108.057026	108.481337	37	50	CC		KEEP	---	---	---	---	capture			Silent	SNP	128863818	128863818	12609	3	C	T	T	32	32	PODXL2	T	2	2
PODXL2	50512	broad.mit.edu	36	3	128873091	128873091	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128873091C>A	uc003ejq.2	+	c.1550C>A	c.(1549-1551)GCG>GAG	p.A517E	ABTB1_uc003ejr.1_5'Flank|ABTB1_uc003ejs.1_5'Flank|ABTB1_uc003ejt.1_5'Flank|ABTB1_uc003eju.1_5'Flank	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	517	Helical; (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2														0.210526	72.220272	84.002548	32	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128873091	128873091	12609	3	C	A	A	27	27	PODXL2	A	3	3
ABTB1	80325	broad.mit.edu	36	3	128877599	128877599	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128877599T>G	uc003ejt.1	+	c.272T>G	c.(271-273)GTC>GGC	p.V91G	ABTB1_uc003ejr.1_5'UTR|ABTB1_uc003ejs.1_Missense_Mutation_p.V66G|ABTB1_uc003eju.1_5'UTR|ABTB1_uc010hsm.1_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	91						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0														0.468354	120.413042	120.485513	37	42	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128877599	128877599	103	3	T	G	G	58	58	ABTB1	G	4	4
KBTBD12	166348	broad.mit.edu	36	3	129124937	129124937	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:129124937G>T	uc010hsr.1	+	c.343G>T	c.(343-345)GAA>TAA	p.E115*	KBTBD12_uc003ejy.2_Intron|KBTBD12_uc010hsq.1_Intron|KBTBD12_uc003ejz.2_Nonsense_Mutation_p.E115*|KBTBD12_uc003eka.2_5'Flank	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	kelch domain containing 6	115										ovary(1)	1														0.357143	72.308692	73.825825	30	54	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	129124937	129124937	8296	3	G	T	T	33	33	KBTBD12	T	5	3
DNAJB8	165721	broad.mit.edu	36	3	129664267	129664267	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:129664267C>T	uc003ekk.1	-	c.512G>A	c.(511-513)GGC>GAC	p.G171D	DNAJB8_uc010hst.1_Missense_Mutation_p.G171D	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	171					protein folding		heat shock protein binding|unfolded protein binding				0														0.268293	77.67919	83.605379	33	90	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.177)	Missense_Mutation	SNP	129664267	129664267	4809	3	C	T	T	26	26	DNAJB8	T	2	2
DNAJB8	165721	broad.mit.edu	36	3	129664498	129664498	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:129664498C>T	uc003ekk.1	-	c.281G>A	c.(280-282)CGT>CAT	p.R94H	DNAJB8_uc010hst.1_Missense_Mutation_p.R94H	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	94					protein folding		heat shock protein binding|unfolded protein binding				0														0.412791	184.576528	185.721188	71	101	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.177)	Missense_Mutation	SNP	129664498	129664498	4809	3	C	T	T	19	19	DNAJB8	T	1	1
GATA2	2624	broad.mit.edu	36	3	129682706	129682706	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:129682706G>A	uc003ekm.2	-	c.1289C>T	c.(1288-1290)GCA>GTA	p.A430V	GATA2_uc003ekn.2_Missense_Mutation_p.A416V|GATA2_uc003eko.1_Missense_Mutation_p.A430V	NM_032638	NP_116027	P23769	GATA2_HUMAN	GATA binding protein 2	430					blood coagulation|phagocytosis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of phagocytosis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15										134				0.248588	92.932952	103.100499	44	133	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.173)	Missense_Mutation	SNP	129682706	129682706	6518	3	G	A	A	46	46	GATA2	A	2	2
RPN1	6184	broad.mit.edu	36	3	129839393	129839393	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:129839393G>A	uc003ekr.1	-	c.572C>T	c.(571-573)CCC>CTC	p.P191L		NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	191	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3										124				0.373786	218.610244	221.531624	77	129	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.189)	Missense_Mutation	SNP	129839393	129839393	14086	3	G	A	A	43	43	RPN1	A	2	2
KIAA1257	57501	broad.mit.edu	36	3	130194769	130194769	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130194769G>A	uc003elj.2	-	c.69C>T	c.(67-69)AGC>AGT	p.S23S	KIAA1257_uc003elg.1_Silent_p.S23S|KIAA1257_uc003eli.2_5'Flank	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	23											0														0.257732	56.225788	61.389705	25	72	GG		KEEP	---	---	---	---	capture			Silent	SNP	130194769	130194769	8527	3	G	A	A	34	34	KIAA1257	A	2	2
GP9	2815	broad.mit.edu	36	3	130263510	130263510	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130263510C>A	uc003elm.1	+	c.238C>A	c.(238-240)CTC>ATC	p.L80I	GP9_uc010hsx.1_Missense_Mutation_p.L80I	NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	80	Extracellular (Potential).|LRR.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)									0.189189	40.104418	50.142247	21	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130263510	130263510	6859	3	C	A	A	24	24	GP9	A	3	3
GP9	2815	broad.mit.edu	36	3	130263755	130263755	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130263755C>T	uc003elm.1	+	c.483C>T	c.(481-483)GGC>GGT	p.G161G	GP9_uc010hsx.1_Silent_p.G161G	NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	161	Helical; (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)									0.5	13.973588	13.973588	5	5	CC		KEEP	---	---	---	---	capture			Silent	SNP	130263755	130263755	6859	3	C	T	T	26	26	GP9	T	2	2
COPG	22820	broad.mit.edu	36	3	130453820	130453820	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130453820G>A	uc003els.1	+	c.97G>A	c.(97-99)GTA>ATA	p.V33I	COPG_uc010htb.1_5'UTR	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	33					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4														0.209302	52.64414	62.745405	27	102	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130453820	130453820	3869	3	G	A	A	48	48	COPG	A	2	2
C3orf37	56941	broad.mit.edu	36	3	130503667	130503667	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130503667G>A	uc003elt.1	+	c.820G>A	c.(820-822)GTC>ATC	p.V274I	C3orf37_uc003elu.1_Missense_Mutation_p.V232I|C3orf37_uc003elv.1_Missense_Mutation_p.V274I|C3orf37_uc003elw.1_Missense_Mutation_p.V274I	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	hypothetical protein LOC56941	274										ovary(1)	1														0.418103	253.374978	254.744606	97	135	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130503667	130503667	2320	3	G	A	A	44	44	C3orf37	A	2	2
C3orf37	56941	broad.mit.edu	36	3	130506248	130506248	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130506248C>A	uc003elt.1	+	c.955C>A	c.(955-957)CTG>ATG	p.L319M	C3orf37_uc003elu.1_Missense_Mutation_p.L277M|C3orf37_uc003elv.1_Missense_Mutation_p.L319M|C3orf37_uc003elw.1_Missense_Mutation_p.L319M	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	hypothetical protein LOC56941	319										ovary(1)	1														0.20915	63.507306	75.498567	32	121	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130506248	130506248	2320	3	C	A	A	24	24	C3orf37	A	3	3
H1FX	8971	broad.mit.edu	36	3	130516847	130516847	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130516847C>T	uc003elx.1	-	c.589G>A	c.(589-591)GTG>ATG	p.V197M	C3orf47_uc003elz.2_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	197					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.352941	30.588926	31.23761	12	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130516847	130516847	7203	3	C	T	T	18	18	H1FX	T	2	2
MBD4	8930	broad.mit.edu	36	3	130639379	130639379	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130639379G>A	uc003emh.1	-	c.209C>T	c.(208-210)GCT>GTT	p.A70V	IFT122_uc003emn.1_5'Flank|IFT122_uc003eml.1_5'Flank|IFT122_uc003emm.1_5'Flank|IFT122_uc003emo.1_5'Flank|IFT122_uc010htc.1_5'Flank|IFT122_uc003emp.1_5'Flank|IFT122_uc003emq.1_5'Flank|MBD4_uc003emi.1_Missense_Mutation_p.A70V|MBD4_uc003emj.1_Missense_Mutation_p.A70V|MBD4_uc003emk.1_Missense_Mutation_p.A70V	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	70					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2														0.474299	609.895457	610.140853	203	225	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130639379	130639379	9734	3	G	A	A	34	34	MBD4	A	2	2
IFT122	55764	broad.mit.edu	36	3	130679663	130679663	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130679663A>G	uc003eml.1	+	c.1415A>G	c.(1414-1416)GAC>GGC	p.D472G	IFT122_uc003emn.1_Missense_Mutation_p.D362G|IFT122_uc003emm.1_Missense_Mutation_p.D421G|IFT122_uc003emo.1_Missense_Mutation_p.D310G|IFT122_uc010htc.1_Missense_Mutation_p.D413G|IFT122_uc003emp.1_Missense_Mutation_p.D271G|IFT122_uc003emq.1_Missense_Mutation_p.D261G|IFT122_uc003emr.1_Missense_Mutation_p.D212G	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 1	421					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)	1														0.402062	128.111555	128.923355	39	58	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130679663	130679663	7856	3	A	G	G	10	10	IFT122	G	4	4
IFT122	55764	broad.mit.edu	36	3	130681379	130681379	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130681379C>T	uc003eml.1	+	c.1565C>T	c.(1564-1566)TCT>TTT	p.S522F	IFT122_uc003emn.1_Missense_Mutation_p.S412F|IFT122_uc003emm.1_Missense_Mutation_p.S471F|IFT122_uc003emo.1_Missense_Mutation_p.S360F|IFT122_uc010htc.1_Missense_Mutation_p.S463F|IFT122_uc003emp.1_Missense_Mutation_p.S321F|IFT122_uc003emq.1_Missense_Mutation_p.S311F|IFT122_uc003emr.1_Missense_Mutation_p.S262F|IFT122_uc010htd.1_5'Flank	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 1	471					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)	1														0.361702	148.887125	151.260253	51	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130681379	130681379	7856	3	C	T	T	32	32	IFT122	T	2	2
IFT122	55764	broad.mit.edu	36	3	130683062	130683062	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130683062G>T	uc003eml.1	+	c.1642_splice	c.e15-1	p.I548_splice	IFT122_uc003emn.1_Splice_Site_SNP_p.I438_splice|IFT122_uc003emm.1_Splice_Site_SNP_p.I497_splice|IFT122_uc003emo.1_Splice_Site_SNP_p.I386_splice|IFT122_uc010htc.1_Splice_Site_SNP_p.I489_splice|IFT122_uc003emp.1_Splice_Site_SNP_p.I347_splice|IFT122_uc003emq.1_Splice_Site_SNP_p.I337_splice|IFT122_uc003emr.1_Splice_Site_SNP_p.I288_splice|IFT122_uc010htd.1_5'UTR	NM_052985	NP_443711			WD repeat domain 10 isoform 1						camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)	1														0.26	28.346492	30.958756	13	37	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	130683062	130683062	7856	3	G	T	T	33	33	IFT122	T	5	3
RHO	6010	broad.mit.edu	36	3	130732548	130732548	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130732548C>T	uc003emt.1	+	c.501C>T	c.(499-501)TGC>TGT	p.C167C		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	167	Helical; Name=4; (Potential).		C -> R (in RP4).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)			Halothane(DB01159)	Esophageal Squamous(118;214 1623 30842 43234 46940)								0.487654	219.411478	219.432863	79	83	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Silent	SNP	130732548	130732548	13805	3	C	T	T	27	27	RHO	T	1	1
RHO	6010	broad.mit.edu	36	3	130734264	130734264	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130734264G>A	uc003emt.1	+	c.895G>A	c.(895-897)GCC>ACC	p.A299T		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	299	Helical; Name=7; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)			Halothane(DB01159)	Esophageal Squamous(118;214 1623 30842 43234 46940)								0.259067	110.355247	120.51127	50	143	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Missense_Mutation	SNP	130734264	130734264	13805	3	G	A	A	38	38	RHO	A	1	1
H1FOO	132243	broad.mit.edu	36	3	130744781	130744781	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130744781C>A	uc003emu.1	+	c.30C>A	c.(28-30)ATC>ATA	p.I10I		NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	10					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding				0														0.512821	52.291653	52.296984	20	19	CC		KEEP	---	---	---	---	capture			Silent	SNP	130744781	130744781	7202	3	C	A	A	32	32	H1FOO	A	3	3
PLXND1	23129	broad.mit.edu	36	3	130757849	130757849	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130757849G>A	uc003emx.2	-	c.5774C>T	c.(5773-5775)GCC>GTC	p.A1925V	PLXND1_uc003emw.2_Missense_Mutation_p.A81V|PLXND1_uc010htf.1_Non-coding_Transcript	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1925	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						Ovarian(97;366 1484 3738 22084 39045)								0.493562	330.886431	330.895254	115	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130757849	130757849	12553	3	G	A	A	42	42	PLXND1	A	2	2
PLXND1	23129	broad.mit.edu	36	3	130786045	130786045	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130786045C>T	uc003emx.2	-	c.1902G>A	c.(1900-1902)GAG>GAA	p.E634E		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	634	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						Ovarian(97;366 1484 3738 22084 39045)								0.178218	66.52592	86.298408	36	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	130786045	130786045	12553	3	C	T	T	32	32	PLXND1	T	2	2
TMCC1	23023	broad.mit.edu	36	3	130872588	130872588	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130872588G>T	uc003emz.2	-	c.786C>A	c.(784-786)TAC>TAA	p.Y262*	TMCC1_uc010htg.1_Nonsense_Mutation_p.Y148*|TMCC1_uc003emy.2_5'UTR	NM_001017395	NP_055823	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	262	Potential.					integral to membrane					0														0.227941	211.762281	239.474961	93	315	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	130872588	130872588	16522	3	G	T	T	36	36	TMCC1	T	5	3
COL6A6	131873	broad.mit.edu	36	3	131772549	131772549	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:131772549G>T	uc010htl.1	+	c.2599G>T	c.(2599-2601)GGC>TGC	p.G867C		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6	867	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.434211	91.959001	92.246504	33	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131772549	131772549	3841	3	G	T	T	47	47	COL6A6	T	3	3
COL6A6	131873	broad.mit.edu	36	3	131775903	131775903	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:131775903G>A	uc010htl.1	+	c.3391G>A	c.(3391-3393)GAC>AAC	p.D1131N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6	1131	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.18705	48.17594	60.923949	26	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131775903	131775903	3841	3	G	A	A	37	37	COL6A6	A	1	1
COL6A6	131873	broad.mit.edu	36	3	131850815	131850815	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:131850815G>A	uc010htl.1	+	c.5452G>A	c.(5452-5454)GCC>ACC	p.A1818T	COL6A6_uc003eni.2_Intron	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6	1818	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.545455	35.300372	35.339841	12	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131850815	131850815	3841	3	G	A	A	38	38	COL6A6	A	1	1
PIK3R4	30849	broad.mit.edu	36	3	131931914	131931914	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:131931914G>T	uc003enj.1	-	c.1513C>A	c.(1513-1515)CTT>ATT	p.L505I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4,	505					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|protein phosphorylation	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|kidney(1)|breast(1)|central_nervous_system(1)	6										587				0.421875	215.021878	216.048582	81	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131931914	131931914	12345	3	G	T	T	33	33	PIK3R4	T	3	3
ATP2C1	27032	broad.mit.edu	36	3	132133645	132133645	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:132133645G>A	uc003ens.1	+	c.207G>A	c.(205-207)GAG>GAA	p.E69E	ATP2C1_uc003enk.1_Silent_p.E53E|ATP2C1_uc003enl.1_Silent_p.E69E|ATP2C1_uc003enn.1_Silent_p.E53E|ATP2C1_uc003enm.1_Silent_p.E69E|ATP2C1_uc003eno.1_Silent_p.E69E|ATP2C1_uc003enp.1_Silent_p.E69E|ATP2C1_uc003enq.1_Silent_p.E69E|ATP2C1_uc003enr.1_Silent_p.E69E|ATP2C1_uc003ent.1_Silent_p.E69E	NM_001001486	NP_001001486	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1d	69	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	Esophageal Squamous(99;456 1443 27647 34099 42636)								0.319328	99.799781	103.256135	38	81	GG		KEEP	---	---	---	---	capture			Silent	SNP	132133645	132133645	1162	3	G	A	A	34	34	ATP2C1	A	2	2
ATP2C1	27032	broad.mit.edu	36	3	132138962	132138962	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:132138962G>A	uc003ens.1	+	c.325G>A	c.(325-327)GCA>ACA	p.A109T	ATP2C1_uc003enk.1_Missense_Mutation_p.A93T|ATP2C1_uc003enl.1_Missense_Mutation_p.A109T|ATP2C1_uc003enn.1_Missense_Mutation_p.A93T|ATP2C1_uc003enm.1_Missense_Mutation_p.A109T|ATP2C1_uc003eno.1_Missense_Mutation_p.A109T|ATP2C1_uc003enp.1_Missense_Mutation_p.A109T|ATP2C1_uc003enq.1_Missense_Mutation_p.A109T|ATP2C1_uc003enr.1_Missense_Mutation_p.A109T|ATP2C1_uc003ent.1_Missense_Mutation_p.A109T	NM_001001486	NP_001001486	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1d	109	Helical; Name=2; (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	Esophageal Squamous(99;456 1443 27647 34099 42636)								0.37069	117.882562	119.591038	43	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	132138962	132138962	1162	3	G	A	A	42	42	ATP2C1	A	2	2
ATP2C1	27032	broad.mit.edu	36	3	132156567	132156567	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:132156567G>T	uc003ens.1	+	c.709G>T	c.(709-711)GAA>TAA	p.E237*	ATP2C1_uc003enk.1_Nonsense_Mutation_p.E221*|ATP2C1_uc003enl.1_Nonsense_Mutation_p.E237*|ATP2C1_uc003enn.1_Nonsense_Mutation_p.E221*|ATP2C1_uc003enm.1_Nonsense_Mutation_p.E237*|ATP2C1_uc003eno.1_Nonsense_Mutation_p.E237*|ATP2C1_uc003enp.1_Nonsense_Mutation_p.E237*|ATP2C1_uc003enq.1_Nonsense_Mutation_p.E237*|ATP2C1_uc003enr.1_Nonsense_Mutation_p.E237*|ATP2C1_uc003ent.1_Nonsense_Mutation_p.E237*	NM_001001486	NP_001001486	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1d	237	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	Esophageal Squamous(99;456 1443 27647 34099 42636)								0.372881	113.750441	115.432132	44	74	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	132156567	132156567	1162	3	G	T	T	33	33	ATP2C1	T	5	3
ATP2C1	27032	broad.mit.edu	36	3	132201179	132201179	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:132201179G>A	uc003ens.1	+	c.2615G>A	c.(2614-2616)AGC>AAC	p.S872N	ATP2C1_uc003enk.1_Missense_Mutation_p.S856N|ATP2C1_uc003enl.1_Missense_Mutation_p.S872N|ATP2C1_uc003enn.1_Missense_Mutation_p.S856N|ATP2C1_uc003enm.1_Missense_Mutation_p.S872N|ATP2C1_uc003eno.1_Missense_Mutation_p.S872N|ATP2C1_uc003enp.1_Missense_Mutation_p.S872N|ATP2C1_uc003enq.1_Missense_Mutation_p.S872N|ATP2C1_uc003enr.1_Missense_Mutation_p.S872N|ATP2C1_uc003ent.1_Missense_Mutation_p.S872N|ATP2C1_uc003enu.1_Missense_Mutation_p.S550N	NM_001001486	NP_001001486	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1d	872	Lumenal (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	Esophageal Squamous(99;456 1443 27647 34099 42636)								0.42029	161.333346	162.09599	58	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	132201179	132201179	1162	3	G	A	A	34	34	ATP2C1	A	2	2
CPNE4	131034	broad.mit.edu	36	3	133106878	133106878	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:133106878C>A	uc003eol.1	-	c.154G>T	c.(154-156)GGC>TGC	p.G52C	CPNE4_uc003eok.1_Missense_Mutation_p.G34C|CPNE4_uc003eom.1_Missense_Mutation_p.G34C	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	34	C2 1.									central_nervous_system(1)	1														0.412698	207.897814	209.15982	78	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	133106878	133106878	3952	3	C	A	A	24	24	CPNE4	A	3	3
NUP210	23225	broad.mit.edu	36	3	13346967	13346967	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:13346967G>A	uc003bxv.1	-	c.4103C>T	c.(4102-4104)GCT>GTT	p.A1368V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210	1368	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(2)|pancreas(1)|liver(1)	10	all_neural(104;0.187)									587				0.528761	730.914356	731.237025	239	213	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13346967	13346967	11165	3	G	A	A	34	34	NUP210	A	2	2
ACPP	55	broad.mit.edu	36	3	133529836	133529836	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:133529836C>A	uc003eop.2	+	c.156C>A	c.(154-156)ACC>ACA	p.T52T	ACPP_uc010htp.1_Silent_p.T52T|ACPP_uc003eon.2_Silent_p.T52T	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	52						extracellular region|lysosomal membrane	acid phosphatase activity			ovary(1)	1														0.198473	51.093067	62.168354	26	105	CC		KEEP	---	---	---	---	capture			Silent	SNP	133529836	133529836	168	3	C	A	A	24	24	ACPP	A	3	3
NUP210	23225	broad.mit.edu	36	3	13353301	13353301	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:13353301C>A	uc003bxv.1	-	c.3670G>T	c.(3670-3672)GGG>TGG	p.G1224W		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210	1224	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(2)|pancreas(1)|liver(1)	10	all_neural(104;0.187)									587				0.313953	68.20101	70.846262	27	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13353301	13353301	11165	3	C	A	A	24	24	NUP210	A	3	3
NUP210	23225	broad.mit.edu	36	3	13374787	13374787	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:13374787C>T	uc003bxv.1	-	c.2263G>A	c.(2263-2265)GCG>ACG	p.A755T	NUP210_uc003bxx.2_Missense_Mutation_p.A427T	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210	755	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(2)|pancreas(1)|liver(1)	10	all_neural(104;0.187)									587				0.223776	64.549281	74.566954	32	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13374787	13374787	11165	3	C	T	T	27	27	NUP210	T	1	1
NPHP3	27031	broad.mit.edu	36	3	133898890	133898890	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:133898890C>T	uc003epe.1	-	c.1992G>A	c.(1990-1992)TGG>TGA	p.W664*	NPHP3_uc003epd.1_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	664					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1														0.242063	144.464036	159.745391	61	191	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	133898890	133898890	10984	3	C	T	T	26	26	NPHP3	T	5	2
TOPBP1	11073	broad.mit.edu	36	3	134839599	134839599	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:134839599G>A	uc003eps.1	-	c.2070C>T	c.(2068-2070)GTC>GTT	p.V690V		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	777					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						Ovarian(21;193 658 4424 15423 17362)				428				0.21499	226.582487	264.622776	109	398	GG		KEEP	---	---	---	---	capture			Silent	SNP	134839599	134839599	16911	3	G	A	A	37	37	TOPBP1	A	1	1
TOPBP1	11073	broad.mit.edu	36	3	134841627	134841627	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:134841627C>T	uc003eps.1	-	c.1838G>A	c.(1837-1839)CGT>CAT	p.R613H		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	700	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						Ovarian(21;193 658 4424 15423 17362)				428				0.451128	165.984681	166.260618	60	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134841627	134841627	16911	3	C	T	T	19	19	TOPBP1	T	1	1
RYK	6259	broad.mit.edu	36	3	135396649	135396649	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:135396649C>T	uc003eqc.1	-	c.848G>A	c.(847-849)AGC>AAC	p.S283N	RYK_uc003eqd.1_Missense_Mutation_p.S283N	NM_001005861	NP_001005861	P34925	RYK_HUMAN	RYK receptor-like tyrosine kinase isoform 1	Error:Variant_position_missing_in_P34925_after_alignment					corpus callosum development|positive regulation of MAPKKK cascade|protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(1)	4										579				0.423358	167.824839	168.527222	58	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135396649	135396649	14247	3	C	T	T	28	28	RYK	T	2	2
AMOTL2	51421	broad.mit.edu	36	3	135567421	135567421	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:135567421G>A	uc003eqg.1	-	c.1207C>T	c.(1207-1209)CGC>TGC	p.R403C	AMOTL2_uc003eqe.1_Missense_Mutation_p.R28C|AMOTL2_uc003eqf.1_Missense_Mutation_p.R403C|AMOTL2_uc003eqh.1_Missense_Mutation_p.R403C	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	403	Potential.									large_intestine(1)	1														0.25641	136.795053	149.384665	60	174	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135567421	135567421	587	3	G	A	A	37	37	AMOTL2	A	1	1
CEP63	80254	broad.mit.edu	36	3	135750645	135750645	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:135750645A>C	uc003eqo.1	+	c.1119A>C	c.(1117-1119)GAA>GAC	p.E373D	CEP63_uc003eql.1_Missense_Mutation_p.E327D|CEP63_uc003eqm.1_Missense_Mutation_p.E327D|CEP63_uc003eqn.1_Missense_Mutation_p.E373D|CEP63_uc003eqp.1_Missense_Mutation_p.E2D	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	373	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1														0.236842	76.971508	84.18298	27	87	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135750645	135750645	3390	3	A	C	C	1	1	CEP63	C	4	4
EPHB1	2047	broad.mit.edu	36	3	136153288	136153288	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:136153288G>T	uc003eqt.1	+	c.509G>T	c.(508-510)CGG>CTG	p.R170L	EPHB1_uc010htz.1_Non-coding_Transcript	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	170	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18									p.R170Q(IMR32-Tumor)	376				0.406557	744.561259	749.191383	248	362	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136153288	136153288	5367	3	G	T	T	39	39	EPHB1	T	3	3
EPHB1	2047	broad.mit.edu	36	3	136308102	136308102	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:136308102G>A	uc003eqt.1	+	c.928G>A	c.(928-930)GCG>ACG	p.A310T	EPHB1_uc010htz.1_Non-coding_Transcript|EPHB1_uc003equ.1_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	310	Extracellular (Potential).|Cys-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.441667	151.754072	152.110393	53	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136308102	136308102	5367	3	G	A	A	34	34	EPHB1	A	2	2
EPHB1	2047	broad.mit.edu	36	3	136363623	136363623	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:136363623G>A	uc003eqt.1	+	c.1496G>A	c.(1495-1497)GGC>GAC	p.G499D	EPHB1_uc003equ.1_Missense_Mutation_p.G60D	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	499	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.22973	105.905929	120.78408	51	171	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136363623	136363623	5367	3	G	A	A	42	42	EPHB1	A	2	2
EPHB1	2047	broad.mit.edu	36	3	136381507	136381507	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:136381507C>T	uc003eqt.1	+	c.1875C>T	c.(1873-1875)ATC>ATT	p.I625I	EPHB1_uc003equ.1_Silent_p.I186I	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	625	ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.204082	59.867477	71.817445	30	117	CC		KEEP	---	---	---	---	capture			Silent	SNP	136381507	136381507	5367	3	C	T	T	31	31	EPHB1	T	1	1
EPHB1	2047	broad.mit.edu	36	3	136403159	136403159	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:136403159G>A	uc003eqt.1	+	c.2284G>A	c.(2284-2286)GAC>AAC	p.D762N	EPHB1_uc003equ.1_Missense_Mutation_p.D323N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	762	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18									p.D762N(HEC251-Tumor)	376				0.439655	279.999603	280.738306	102	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136403159	136403159	5367	3	G	A	A	37	37	EPHB1	A	1	1
EPHB1	2047	broad.mit.edu	36	3	136450886	136450886	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:136450886C>T	uc003eqt.1	+	c.2709C>T	c.(2707-2709)CTC>CTT	p.L903L	EPHB1_uc003equ.1_Silent_p.L464L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	903	Cytoplasmic (Potential).			L -> H (in Ref. 3; BAF83897).	transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.214815	60.901924	71.039629	29	106	CC		KEEP	---	---	---	---	capture			Silent	SNP	136450886	136450886	5367	3	C	T	T	31	31	EPHB1	T	1	1
MSL2	55167	broad.mit.edu	36	3	137352889	137352889	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:137352889C>A	uc003eqx.1	-	c.1524G>T	c.(1522-1524)AAG>AAT	p.K508N		NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	508					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1														0.410853	132.516219	133.419206	53	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137352889	137352889	10271	3	C	A	A	32	32	MSL2	A	3	3
PCCB	5096	broad.mit.edu	36	3	137530297	137530297	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:137530297T>C	uc003eqz.1	+	c.1406T>C	c.(1405-1407)GTG>GCG	p.V469A	PCCB_uc003eqy.1_Missense_Mutation_p.V469A	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	469	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)									0.537736	189.1856	189.317583	57	49	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137530297	137530297	11925	3	T	C	C	59	59	PCCB	C	4	4
CNTN6	27255	broad.mit.edu	36	3	1389037	1389037	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:1389037G>A	uc003boz.1	+	c.1547G>A	c.(1546-1548)AGT>AAT	p.S516N	CNTN6_uc003bpa.1_Missense_Mutation_p.S516N	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6	516	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				lung(2)|breast(2)|pancreas(1)	5		all_cancers(2;0.000164)|all_epithelial(2;0.107)								1038				0.243386	109.164397	120.506724	46	143	GG		KEEP	---	---	---	---	capture		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	Missense_Mutation	SNP	1389037	1389037	3783	3	G	A	A	36	36	CNTN6	A	2	2
CNTN6	27255	broad.mit.edu	36	3	1389126	1389126	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:1389126A>C	uc003boz.1	+	c.1636A>C	c.(1636-1638)AAA>CAA	p.K546Q	CNTN6_uc003bpa.1_Missense_Mutation_p.K546Q	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6	546	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				lung(2)|breast(2)|pancreas(1)	5		all_cancers(2;0.000164)|all_epithelial(2;0.107)								1038				0.23622	84.191714	92.264925	30	97	AA		KEEP	---	---	---	---	capture		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	Missense_Mutation	SNP	1389126	1389126	3783	3	A	C	C	1	1	CNTN6	C	4	4
SOX14	8403	broad.mit.edu	36	3	138966675	138966675	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:138966675G>A	uc003erm.1	+	c.359G>A	c.(358-360)AGC>AAC	p.S120N		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	120					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|transcription repressor activity				0														0.291667	47.234858	50.041872	21	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138966675	138966675	15445	3	G	A	A	34	34	SOX14	A	2	2
CLDN18	51208	broad.mit.edu	36	3	139225221	139225221	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139225221C>T	uc003ero.1	+	c.252C>T	c.(250-252)ATC>ATT	p.I84I	CLDN18_uc003erp.1_Silent_p.I84I|CLDN18_uc010hue.1_Missense_Mutation_p.R80C	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	84	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1														0.18232	61.467167	78.626298	33	148	CC		KEEP	---	---	---	---	capture			Silent	SNP	139225221	139225221	3615	3	C	T	T	31	31	CLDN18	T	1	1
DZIP1L	199221	broad.mit.edu	36	3	139273350	139273350	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139273350C>T	uc003erq.1	-	c.1440G>A	c.(1438-1440)TCG>TCA	p.S480S	DZIP1L_uc003err.1_Silent_p.S480S	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	480						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2														0.414141	111.26373	111.898394	41	58	CC		KEEP	---	---	---	---	capture			Silent	SNP	139273350	139273350	5050	3	C	T	T	31	31	DZIP1L	T	1	1
A4GNT	51146	broad.mit.edu	36	3	139325881	139325881	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139325881C>T	uc003ers.2	-	c.938G>A	c.(937-939)CGC>CAC	p.R313H		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	313	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1														0.165803	50.479732	70.940699	32	161	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139325881	139325881	8	3	C	T	T	27	27	A4GNT	T	1	1
DBR1	51163	broad.mit.edu	36	3	139364998	139364998	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139364998G>A	uc003erv.1	-	c.824C>T	c.(823-825)GCT>GTT	p.A275V	DBR1_uc003ert.1_Missense_Mutation_p.A43V|DBR1_uc003eru.1_Missense_Mutation_p.A224V	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	275						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0														0.441558	191.664337	192.12478	68	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139364998	139364998	4428	3	G	A	A	34	34	DBR1	A	2	2
DBR1	51163	broad.mit.edu	36	3	139375089	139375089	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139375089A>G	uc003erv.1	-	c.267T>C	c.(265-267)AAT>AAC	p.N89N	DBR1_uc003eru.1_Silent_p.N38N	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	89						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0														0.235632	226.791759	249.01726	82	266	AA		KEEP	---	---	---	---	capture			Silent	SNP	139375089	139375089	4428	3	A	G	G	12	12	DBR1	G	4	4
ARMC8	25852	broad.mit.edu	36	3	139441031	139441031	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139441031C>T	uc003esa.1	+	c.766C>T	c.(766-768)CGG>TGG	p.R256W	ARMC8_uc003esb.1_Missense_Mutation_p.R228W|ARMC8_uc003esc.1_Missense_Mutation_p.R28W|ARMC8_uc003erw.1_Missense_Mutation_p.R256W|ARMC8_uc003erx.1_Missense_Mutation_p.R256W|ARMC8_uc003ery.1_Missense_Mutation_p.R228W|ARMC8_uc003erz.1_Missense_Mutation_p.R228W	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	270	ARM 6.						binding				0														0.441176	215.397432	215.910511	75	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139441031	139441031	975	3	C	T	T	31	31	ARMC8	T	1	1
MRAS	22808	broad.mit.edu	36	3	139598932	139598932	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139598932C>T	uc003esh.2	+	c.270C>T	c.(268-270)ATC>ATT	p.I90I	MRAS_uc003esi.2_Silent_p.I90I	NM_012219	NP_036351	O14807	RASM_HUMAN	muscle RAS oncogene homolog	90					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3														0.550562	142.774925	142.972309	49	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	139598932	139598932	10147	3	C	T	T	31	31	MRAS	T	1	1
CEP70	80321	broad.mit.edu	36	3	139702009	139702009	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139702009G>A	uc003esl.1	-	c.1459C>T	c.(1459-1461)CCC>TCC	p.P487S	CEP70_uc003esm.2_Missense_Mutation_p.P487S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	487	TPR.				G2/M transition of mitotic cell cycle	cytosol|microtubule organizing center	protein binding				0														0.46383	961.340026	962.143853	327	378	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139702009	139702009	3392	3	G	A	A	41	41	CEP70	A	2	2
CEP70	80321	broad.mit.edu	36	3	139710052	139710052	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139710052C>T	uc003esl.1	-	c.969G>A	c.(967-969)AAG>AAA	p.K323K	CEP70_uc003esm.2_Silent_p.K323K	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	323	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule organizing center	protein binding				0														0.19571	165.149737	197.351448	73	300	CC		KEEP	---	---	---	---	capture			Silent	SNP	139710052	139710052	3392	3	C	T	T	32	32	CEP70	T	2	2
CEP70	80321	broad.mit.edu	36	3	139738780	139738780	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139738780G>A	uc003esl.1	-	c.565C>T	c.(565-567)CGC>TGC	p.R189C	CEP70_uc003esm.2_Missense_Mutation_p.R189C|CEP70_uc003esn.2_Missense_Mutation_p.R189C	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	189					G2/M transition of mitotic cell cycle	cytosol|microtubule organizing center	protein binding				0														0.191617	62.399928	77.242414	32	135	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139738780	139738780	3392	3	G	A	A	37	37	CEP70	A	1	1
CEP70	80321	broad.mit.edu	36	3	139774452	139774452	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139774452G>A	uc003esl.1	-	c.8C>T	c.(7-9)CCG>CTG	p.P3L	CEP70_uc003esm.2_Missense_Mutation_p.P3L|CEP70_uc003esn.2_Missense_Mutation_p.P3L	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	3					G2/M transition of mitotic cell cycle	cytosol|microtubule organizing center	protein binding				0														0.433333	365.540698	366.585496	117	153	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139774452	139774452	3392	3	G	A	A	39	39	CEP70	A	1	1
FAIM	55179	broad.mit.edu	36	3	139834546	139834546	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139834546C>T	uc003esp.1	+	c.577C>T	c.(577-579)CGG>TGG	p.R193W	FAIM_uc003esq.1_Missense_Mutation_p.R181W|FAIM_uc003esr.1_Missense_Mutation_p.R159W|FAIM_uc003ess.1_Missense_Mutation_p.R159W	NM_001033030	NP_060617	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule isoform a	159					apoptosis	cytoplasm					0														0.429379	207.861616	208.632831	76	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139834546	139834546	5572	3	C	T	T	27	27	FAIM	T	1	1
FAIM	55179	broad.mit.edu	36	3	139834608	139834608	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139834608T>A	uc003esp.1	+	c.639T>A	c.(637-639)AGT>AGA	p.S213R	FAIM_uc003esq.1_Missense_Mutation_p.S201R|FAIM_uc003esr.1_Missense_Mutation_p.S179R|FAIM_uc003ess.1_Missense_Mutation_p.S179R	NM_001033030	NP_060617	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule isoform a	179					apoptosis	cytoplasm					0														0.227273	53.014202	60.528185	25	85	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139834608	139834608	5572	3	T	A	A	60	60	FAIM	A	4	4
PIK3CB	5291	broad.mit.edu	36	3	139900591	139900591	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139900591C>A	uc003esu.1	-	c.1618G>T	c.(1618-1620)GAA>TAA	p.E540*	PIK3CB_uc010huh.1_5'UTR	NM_006219	NP_006210	P42338	PK3CB_HUMAN	phosphoinositide-3-kinase, catalytic, beta	540					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			ovary(1)|skin(1)	2										330				0.252688	103.026645	113.366573	47	139	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	139900591	139900591	12338	3	C	A	A	32	32	PIK3CB	A	5	3
C3orf72	401089	broad.mit.edu	36	3	140151114	140151114	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:140151114G>A	uc003esx.1	+	c.163G>A	c.(163-165)GGT>AGT	p.G55S	FOXL2_uc003esw.1_5'Flank	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	55											0														0.419118	160.851448	161.627466	57	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140151114	140151114	2337	3	G	A	A	39	39	C3orf72	A	1	1
PRR23B	389151	broad.mit.edu	36	3	140221565	140221565	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:140221565G>A	uc003esy.1	-	c.629C>T	c.(628-630)TCT>TTT	p.S210F		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	hypothetical protein LOC389151	210	Pro-rich.									breast(1)	1														0.163793	32.54488	45.008239	19	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140221565	140221565	13043	3	G	A	A	33	33	PRR23B	A	2	2
PRR23B	389151	broad.mit.edu	36	3	140221669	140221669	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:140221669G>A	uc003esy.1	-	c.525C>T	c.(523-525)GCC>GCT	p.A175A		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	hypothetical protein LOC389151	175										breast(1)	1														0.238462	74.765319	82.883684	31	99	GG		KEEP	---	---	---	---	capture			Silent	SNP	140221669	140221669	13043	3	G	A	A	39	39	PRR23B	A	1	1
MRPS22	56945	broad.mit.edu	36	3	140551778	140551778	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:140551778G>A	uc003etb.1	+	c.572G>A	c.(571-573)CGA>CAA	p.R191Q	MRPS22_uc003etc.1_Non-coding_Transcript|MRPS22_uc003etd.1_Missense_Mutation_p.R190Q|MRPS22_uc003ete.1_Missense_Mutation_p.R150Q	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	191						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)	2														0.234848	70.15694	78.647774	31	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140551778	140551778	10226	3	G	A	A	37	37	MRPS22	A	1	1
COPB2	9276	broad.mit.edu	36	3	140577087	140577087	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:140577087C>T	uc003etf.2	-	c.564G>A	c.(562-564)GTG>GTA	p.V188V	COPB2_uc010hui.1_Silent_p.V159V	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	188	WD 5.				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2														0.171053	39.341496	54.914591	26	126	CC		KEEP	---	---	---	---	capture			Silent	SNP	140577087	140577087	3867	3	C	T	T	29	29	COPB2	T	2	2
COPB2	9276	broad.mit.edu	36	3	140584849	140584849	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:140584849A>G	uc003etf.2	-	c.122T>C	c.(121-123)GTT>GCT	p.V41A	COPB2_uc010hui.1_Missense_Mutation_p.V12A|COPB2_uc003etg.2_Missense_Mutation_p.V41A	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	41	WD 1.				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2														0.22695	87.92922	97.576388	32	109	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140584849	140584849	3867	3	A	G	G	2	2	COPB2	G	4	4
CHCHD4	131474	broad.mit.edu	36	3	14129505	14129505	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14129505G>T	uc003byi.2	-	c.351C>A	c.(349-351)CTC>CTA	p.L117L	CHCHD4_uc003byj.2_Silent_p.L104L	NM_144636	NP_653237	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain	104					protein transport|transmembrane transport	mitochondrial intermembrane space					0														0.581081	122.724625	123.147211	43	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	14129505	14129505	3452	3	G	T	T	33	33	CHCHD4	T	3	3
CLSTN2	64084	broad.mit.edu	36	3	141606261	141606261	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:141606261C>T	uc003etn.1	+	c.600C>T	c.(598-600)ATC>ATT	p.I200I	CLSTN2_uc003etm.1_Silent_p.I200I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	200	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.483092	288.079847	288.13143	100	107	CC		KEEP	---	---	---	---	capture			Silent	SNP	141606261	141606261	3700	3	C	T	T	31	31	CLSTN2	T	1	1
CLSTN2	64084	broad.mit.edu	36	3	141650063	141650063	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:141650063G>T	uc003etn.1	+	c.800G>T	c.(799-801)AGG>ATG	p.R267M	CLSTN2_uc003etm.1_Missense_Mutation_p.R267M	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	267	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.2	89.772939	109.463849	47	188	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141650063	141650063	3700	3	G	T	T	35	35	CLSTN2	T	3	3
CLSTN2	64084	broad.mit.edu	36	3	141767698	141767698	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:141767698G>T	uc003etn.1	+	c.2781G>T	c.(2779-2781)GAG>GAT	p.E927D		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	927	Glu-rich (highly acidic).|Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.44898	61.541055	61.652509	22	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141767698	141767698	3700	3	G	T	T	35	35	CLSTN2	T	3	3
TRIM42	287015	broad.mit.edu	36	3	141884633	141884633	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:141884633C>T	uc003eto.1	+	c.981C>T	c.(979-981)ATC>ATT	p.I327I		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	327						intracellular	zinc ion binding			lung(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)|skin(1)	6										261				0.146067	36.757422	58.179101	26	152	CC		KEEP	---	---	---	---	capture			Silent	SNP	141884633	141884633	17061	3	C	T	T	31	31	TRIM42	T	1	1
TRIM42	287015	broad.mit.edu	36	3	141889636	141889636	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:141889636C>T	uc003eto.1	+	c.1422C>T	c.(1420-1422)TAC>TAT	p.Y474Y		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	474	COS.					intracellular	zinc ion binding			lung(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)|skin(1)	6										261				0.193798	45.117895	56.395954	25	104	CC		KEEP	---	---	---	---	capture			Silent	SNP	141889636	141889636	17061	3	C	T	T	19	19	TRIM42	T	1	1
SLC25A36	55186	broad.mit.edu	36	3	142158213	142158213	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:142158213C>A	uc003etr.2	+	c.196C>A	c.(196-198)CAT>AAT	p.H66N	SLC25A36_uc003etp.2_Missense_Mutation_p.H66N|SLC25A36_uc003ets.2_Missense_Mutation_p.H66N|SLC25A36_uc003etq.2_5'UTR	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	solute carrier family 25, member 36 isoform a	66	Solcar 1.				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0														0.370717	303.16047	307.903495	119	202	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142158213	142158213	14997	3	C	A	A	29	29	SLC25A36	A	3	3
SLC25A36	55186	broad.mit.edu	36	3	142172511	142172511	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:142172511A>G	uc003etr.2	+	c.438A>G	c.(436-438)TTA>TTG	p.L146L	SLC25A36_uc003ets.2_Silent_p.L146L|SLC25A36_uc003etq.2_5'UTR	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	solute carrier family 25, member 36 isoform a	146	Solcar 2.				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0														0.396825	160.23486	161.404836	50	76	AA		KEEP	---	---	---	---	capture			Silent	SNP	142172511	142172511	14997	3	A	G	G	14	14	SLC25A36	G	4	4
ACPL2	92370	broad.mit.edu	36	3	142494007	142494007	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:142494007C>T	uc003etu.1	+	c.713C>T	c.(712-714)GCG>GTG	p.A238V	ACPL2_uc003etv.1_Missense_Mutation_p.A238V	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	238						extracellular region	acid phosphatase activity				0														0.484472	212.930631	212.964351	78	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142494007	142494007	167	3	C	T	T	27	27	ACPL2	T	1	1
ACPL2	92370	broad.mit.edu	36	3	142494281	142494281	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:142494281C>T	uc003etu.1	+	c.987C>T	c.(985-987)ATC>ATT	p.I329I	ACPL2_uc003etv.1_Silent_p.I329I	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	329						extracellular region	acid phosphatase activity				0														0.411504	254.416195	255.965692	93	133	CC		KEEP	---	---	---	---	capture			Silent	SNP	142494281	142494281	167	3	C	T	T	31	31	ACPL2	T	1	1
ZBTB38	253461	broad.mit.edu	36	3	142644739	142644739	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:142644739G>T	uc003etw.1	+	c.819G>T	c.(817-819)CAG>CAT	p.Q273H	ZBTB38_uc010hun.1_Missense_Mutation_p.Q270H|ZBTB38_uc010huo.1_Missense_Mutation_p.Q273H|ZBTB38_uc003ety.1_Missense_Mutation_p.Q273H|ZBTB38_uc010hup.1_Missense_Mutation_p.Q273H	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	273					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.231579	89.27996	101.84259	44	146	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142644739	142644739	18125	3	G	T	T	35	35	ZBTB38	T	3	3
ZBTB38	253461	broad.mit.edu	36	3	142647373	142647373	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:142647373C>T	uc003etw.1	+	c.3453C>T	c.(3451-3453)AGC>AGT	p.S1151S	ZBTB38_uc010hun.1_Silent_p.S1148S|ZBTB38_uc010huo.1_Silent_p.S1151S|ZBTB38_uc003ety.1_Silent_p.S1151S|ZBTB38_uc010hup.1_Silent_p.S1151S	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1151					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.207977	142.757313	170.509685	73	278	CC		KEEP	---	---	---	---	capture			Silent	SNP	142647373	142647373	18125	3	C	T	T	26	26	ZBTB38	T	2	2
RASA2	5922	broad.mit.edu	36	3	142810989	142810989	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:142810989G>T	uc010huq.1	+	c.2275G>T	c.(2275-2277)GAC>TAC	p.D759Y	RASA2_uc003etz.1_Missense_Mutation_p.D755Y|RASA2_uc003eua.1_Missense_Mutation_p.D756Y	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	755					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(1)	3														0.2	61.49573	74.902492	32	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142810989	142810989	13521	3	G	T	T	33	33	RASA2	T	3	3
XRN1	54464	broad.mit.edu	36	3	143513296	143513296	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143513296G>A	uc003eus.1	-	c.4868C>T	c.(4867-4869)GCC>GTC	p.A1623V	XRN1_uc010huu.1_Missense_Mutation_p.A1077V|XRN1_uc003eut.1_Missense_Mutation_p.A1610V|XRN1_uc003euu.1_Missense_Mutation_p.A1611V	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1623					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3														0.211921	63.067201	74.62135	32	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143513296	143513296	18042	3	G	A	A	42	42	XRN1	A	2	2
XRN1	54464	broad.mit.edu	36	3	143572818	143572818	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143572818C>A	uc003eus.1	-	c.3021G>T	c.(3019-3021)GAG>GAT	p.E1007D	XRN1_uc010huu.1_Missense_Mutation_p.E473D|XRN1_uc003eut.1_Missense_Mutation_p.E1007D|XRN1_uc003euu.1_Missense_Mutation_p.E1007D	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1007					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3														0.336634	87.309334	89.698438	34	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143572818	143572818	18042	3	C	A	A	24	24	XRN1	A	3	3
XRN1	54464	broad.mit.edu	36	3	143605301	143605301	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143605301A>C	uc003eus.1	-	c.2008T>G	c.(2008-2010)TTT>GTT	p.F670V	XRN1_uc010huu.1_Missense_Mutation_p.F136V|XRN1_uc003eut.1_Missense_Mutation_p.F670V|XRN1_uc003euu.1_Missense_Mutation_p.F670V|XRN1_uc003euv.1_Missense_Mutation_p.F531V	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	670					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3														0.213904	106.106298	120.234893	40	147	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143605301	143605301	18042	3	A	C	C	1	1	XRN1	C	4	4
XRN1	54464	broad.mit.edu	36	3	143620046	143620046	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143620046C>T	uc003eus.1	-	c.1336G>A	c.(1336-1338)GTA>ATA	p.V446I	XRN1_uc003eut.1_Missense_Mutation_p.V446I|XRN1_uc003euu.1_Missense_Mutation_p.V446I|XRN1_uc003euv.1_Missense_Mutation_p.V307I|XRN1_uc003euw.2_Missense_Mutation_p.V446I	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	446					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3														0.43	236.515497	237.369899	86	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143620046	143620046	18042	3	C	T	T	19	19	XRN1	T	1	1
XRN1	54464	broad.mit.edu	36	3	143634284	143634284	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143634284G>A	uc003eus.1	-	c.217C>T	c.(217-219)CGC>TGC	p.R73C	XRN1_uc003eut.1_Missense_Mutation_p.R73C|XRN1_uc003euu.1_Missense_Mutation_p.R73C|XRN1_uc003euw.2_Missense_Mutation_p.R73C	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	73					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3														0.222222	52.044733	59.710778	24	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143634284	143634284	18042	3	G	A	A	37	37	XRN1	A	1	1
ATR	545	broad.mit.edu	36	3	143660522	143660522	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143660522C>T	uc003eux.2	-	c.7471G>A	c.(7471-7473)GTA>ATA	p.V2491I	ATR_uc003euy.1_Missense_Mutation_p.V377I	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2491	PI3K/PI4K.				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)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.185567	32.191502	41.185265	18	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143660522	143660522	1223	3	C	T	T	19	19	ATR	T	1	1
ATR	545	broad.mit.edu	36	3	143724291	143724291	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143724291C>T	uc003eux.2	-	c.4235G>A	c.(4234-4236)CGA>CAA	p.R1412Q		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1412					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)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.175	85.014893	112.910829	49	231	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143724291	143724291	1223	3	C	T	T	31	31	ATR	T	1	1
ATR	545	broad.mit.edu	36	3	143725575	143725575	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143725575G>A	uc003eux.2	-	c.4102C>T	c.(4102-4104)CGA>TGA	p.R1368*		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1368					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)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.466192	376.395207	376.674746	131	150	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	143725575	143725575	1223	3	G	A	A	37	37	ATR	A	5	1
ATR	545	broad.mit.edu	36	3	143764404	143764404	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143764404C>T	uc003eux.2	-	c.530G>A	c.(529-531)CGA>CAA	p.R177Q		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	177					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)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.183333	80.149851	102.752815	44	196	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143764404	143764404	1223	3	C	T	T	31	31	ATR	T	1	1
PLS1	5357	broad.mit.edu	36	3	143870963	143870963	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143870963G>T	uc010huv.1	+	c.112G>T	c.(112-114)GAC>TAC	p.D38Y	PLS1_uc003euz.1_Missense_Mutation_p.D38Y|PLS1_uc003eva.1_Missense_Mutation_p.D38Y	NM_002670	NP_002661	Q14651	PLSI_HUMAN	plastin 1	38	EF-hand 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton				0														0.227848	111.609008	127.733801	54	183	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143870963	143870963	12533	3	G	T	T	33	33	PLS1	T	3	3
PLS1	5357	broad.mit.edu	36	3	143887866	143887866	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143887866G>T	uc010huv.1	+	c.939G>T	c.(937-939)GGG>GGT	p.G313G	PLS1_uc003euz.1_Silent_p.G313G|PLS1_uc003eva.1_Silent_p.G313G	NM_002670	NP_002661	Q14651	PLSI_HUMAN	plastin 1	313	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton				0														0.170455	42.619309	60.76349	30	146	GG		KEEP	---	---	---	---	capture			Silent	SNP	143887866	143887866	12533	3	G	T	T	43	43	PLS1	T	3	3
TRPC1	7220	broad.mit.edu	36	3	143994449	143994449	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143994449C>A	uc003evc.1	+	c.1531C>A	c.(1531-1533)CTT>ATT	p.L511I	TRPC1_uc003evb.1_Missense_Mutation_p.L477I	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	511	Extracellular (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.185654	70.425296	92.586706	44	193	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143994449	143994449	17129	3	C	A	A	32	32	TRPC1	A	3	3
PCOLCE2	26577	broad.mit.edu	36	3	144090417	144090417	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:144090417C>T	uc003evd.1	-	c.12G>A	c.(10-12)GCG>GCA	p.A4A		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	4						extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)	2														0.272727	6.923213	7.433538	3	8	CC		KEEP	---	---	---	---	capture			Silent	SNP	144090417	144090417	12015	3	C	T	T	31	31	PCOLCE2	T	1	1
PAQR9	344838	broad.mit.edu	36	3	144163976	144163976	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:144163976C>T	uc003evg.1	-	c.893G>A	c.(892-894)CGC>CAC	p.R298H	PAQR9_uc003evf.1_Non-coding_Transcript	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	298	Extracellular (Potential).					integral to membrane	receptor activity				0														0.427419	129.855941	130.42247	53	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144163976	144163976	11859	3	C	T	T	27	27	PAQR9	T	1	1
PAQR9	344838	broad.mit.edu	36	3	144164128	144164128	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:144164128G>A	uc003evg.1	-	c.741C>T	c.(739-741)TTC>TTT	p.F247F	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	247	Helical; (Potential).					integral to membrane	receptor activity				0														0.37037	130.699791	132.698512	50	85	GG		KEEP	---	---	---	---	capture			Silent	SNP	144164128	144164128	11859	3	G	A	A	37	37	PAQR9	A	1	1
SR140	23350	broad.mit.edu	36	3	144224520	144224520	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:144224520C>T	uc003evh.1	+	c.1154C>T	c.(1153-1155)GCG>GTG	p.A385V	SR140_uc003evi.1_5'UTR|SR140_uc003evj.1_Non-coding_Transcript|SR140_uc003evk.1_Missense_Mutation_p.A384V|SR140_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	385	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						Colon(87;897 1320 15089 19747 35974)								0.529412	78.023787	78.061962	27	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144224520	144224520	15645	3	C	T	T	27	27	SR140	T	1	1
SR140	23350	broad.mit.edu	36	3	144255288	144255288	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:144255288G>A	uc003evh.1	+	c.2736G>A	c.(2734-2736)AAG>AAA	p.K912K	SR140_uc003evi.1_Silent_p.K503K|SR140_uc003evj.1_Non-coding_Transcript|SR140_uc003evk.1_Silent_p.K911K|SR140_uc003evl.1_Silent_p.K479K	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	912	Potential.|Glu-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						Colon(87;897 1320 15089 19747 35974)								0.333333	34.487019	35.373132	12	24	GG		KEEP	---	---	---	---	capture			Silent	SNP	144255288	144255288	15645	3	G	A	A	33	33	SR140	A	2	2
CHST2	9435	broad.mit.edu	36	3	144323522	144323522	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:144323522C>T	uc003evm.1	+	c.1174C>T	c.(1174-1176)CTG>TTG	p.L392L	CHST2_uc010huw.1_Silent_p.L392L	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	392	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3														0.164474	46.172452	62.425703	25	127	CC		KEEP	---	---	---	---	capture			Silent	SNP	144323522	144323522	3538	3	C	T	T	32	32	CHST2	T	2	2
SLC6A6	6533	broad.mit.edu	36	3	14462251	14462251	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14462251T>G	uc003byq.1	+	c.252T>G	c.(250-252)TTT>TTG	p.F84L	SLC6A6_uc003byp.2_Missense_Mutation_p.F84L|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc010heg.1_Missense_Mutation_p.F84L|SLC6A6_uc003byr.1_Non-coding_Transcript	NM_003043	NP_003034	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	84	Helical; Name=2; (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1														0.242105	118.872501	130.394238	46	144	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14462251	14462251	15185	3	T	G	G	61	61	SLC6A6	G	4	4
SLC6A6	6533	broad.mit.edu	36	3	14474517	14474517	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14474517G>A	uc003byq.1	+	c.655G>A	c.(655-657)GAC>AAC	p.D219N	SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc010heg.1_Missense_Mutation_p.D219N|SLC6A6_uc003byr.1_Non-coding_Transcript	NM_003043	NP_003034	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	219	Helical; Name=4; (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1														0.199248	108.771762	131.125341	53	213	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14474517	14474517	15185	3	G	A	A	41	41	SLC6A6	A	2	2
SLC9A9	285195	broad.mit.edu	36	3	144753922	144753922	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:144753922G>T	uc003evn.1	-	c.1061C>A	c.(1060-1062)TCT>TAT	p.S354Y		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	354					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)	2														0.197917	35.862158	44.027463	19	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144753922	144753922	15218	3	G	T	T	33	33	SLC9A9	T	3	3
SLC6A6	6533	broad.mit.edu	36	3	14495063	14495063	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14495063T>C	uc003byq.1	+	c.1433T>C	c.(1432-1434)GTT>GCT	p.V478A	SLC6A6_uc010heg.1_Missense_Mutation_p.V478A|SLC6A6_uc003byr.1_Non-coding_Transcript	NM_003043	NP_003034	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	478	Helical; Name=10; (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1														0.28178	416.587868	436.774847	133	339	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14495063	14495063	15185	3	T	C	C	60	60	SLC6A6	C	4	4
SLC6A6	6533	broad.mit.edu	36	3	14501457	14501457	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14501457C>T	uc003byq.1	+	c.1801C>T	c.(1801-1803)CGC>TGC	p.R601C	SLC6A6_uc010heg.1_Missense_Mutation_p.R601C|SLC6A6_uc003byr.1_Non-coding_Transcript	NM_003043	NP_003034	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	601	Cytoplasmic (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1														0.245614	31.122045	34.481716	14	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14501457	14501457	15185	3	C	T	T	31	31	SLC6A6	T	1	1
C3orf58	205428	broad.mit.edu	36	3	145191306	145191306	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:145191306A>G	uc003evo.1	+	c.1226A>G	c.(1225-1227)TAT>TGT	p.Y409C		NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	409						COPI vesicle coat|extracellular region				ovary(1)	1														0.504202	199.305689	199.307628	60	59	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145191306	145191306	2329	3	A	G	G	16	16	C3orf58	G	4	4
FGD5	152273	broad.mit.edu	36	3	14836545	14836545	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14836545C>T	uc003bzc.1	+	c.240C>T	c.(238-240)GCC>GCT	p.A80A		NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	321	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.590476	188.861963	189.613079	62	43	CC		KEEP	---	---	---	---	capture			Silent	SNP	14836545	14836545	6073	3	C	T	T	23	23	FGD5	T	1	1
AGTR1	185	broad.mit.edu	36	3	149941519	149941519	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:149941519C>A	uc003ewg.1	+	c.7C>A	c.(7-9)CTC>ATC	p.L3I	AGTR1_uc003ewh.1_Missense_Mutation_p.L3I|AGTR1_uc003ewi.1_Missense_Mutation_p.L3I|AGTR1_uc003ewj.1_Missense_Mutation_p.L3I|AGTR1_uc003ewk.1_Missense_Mutation_p.L3I|AGTR1_uc010hvd.1_Missense_Mutation_p.L3I	NM_031850	NP_114438	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	3	Extracellular (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|oxygen and reactive oxygen species metabolic process|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|regulation of blood vessel size by renin-angiotensin|regulation of cell growth|regulation of cell proliferation|regulation of natriuresis|regulation of vasoconstriction|regulation of vasodilation|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction	integral to plasma membrane	acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0					Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)									0.196319	59.492168	73.515982	32	131	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Missense_Mutation	SNP	149941519	149941519	404	3	C	A	A	32	32	AGTR1	A	3	3
AGTR1	185	broad.mit.edu	36	3	149942058	149942058	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:149942058C>T	uc003ewg.1	+	c.546C>T	c.(544-546)TTC>TTT	p.F182F	AGTR1_uc003ewh.1_Silent_p.F182F|AGTR1_uc003ewi.1_Silent_p.F182F|AGTR1_uc003ewj.1_Silent_p.F182F|AGTR1_uc003ewk.1_Silent_p.F182F|AGTR1_uc010hvd.1_Silent_p.F182F	NM_031850	NP_114438	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	182	Extracellular (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|oxygen and reactive oxygen species metabolic process|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|regulation of blood vessel size by renin-angiotensin|regulation of cell growth|regulation of cell proliferation|regulation of natriuresis|regulation of vasoconstriction|regulation of vasodilation|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction	integral to plasma membrane	acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0					Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)									0.220833	118.973381	136.174267	53	187	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Silent	SNP	149942058	149942058	404	3	C	T	T	30	30	AGTR1	T	2	2
HLTF	6596	broad.mit.edu	36	3	150271793	150271793	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150271793T>G	uc003ewq.1	-	c.830A>C	c.(829-831)AAT>ACT	p.N277T	HLTF_uc003ewr.1_Missense_Mutation_p.N277T|HLTF_uc003ews.1_Missense_Mutation_p.N277T|HLTF_uc010hve.1_Missense_Mutation_p.N277T	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	277					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding				0														0.218085	107.994046	121.750236	41	147	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Missense_Mutation	SNP	150271793	150271793	7506	3	T	G	G	52	52	HLTF	G	4	4
CP	1356	broad.mit.edu	36	3	150376761	150376761	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150376761T>C	uc003ewy.2	-	c.3147A>G	c.(3145-3147)GGA>GGG	p.G1049G	CP_uc003eww.2_3'UTR|CP_uc003ewx.2_Silent_p.G830G	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	1049	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)			Drotrecogin alfa(DB00055)									0.218391	155.945044	175.011281	57	204	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Silent	SNP	150376761	150376761	3925	3	T	C	C	62	62	CP	C	4	4
CP	1356	broad.mit.edu	36	3	150385887	150385887	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150385887T>C	uc003ewy.2	-	c.2114A>G	c.(2113-2115)TAC>TGC	p.Y705C	CP_uc003ewx.2_Missense_Mutation_p.Y486C|CP_uc003ewz.2_Missense_Mutation_p.Y705C	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	705	Plastocyanin-like 4.|F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)			Drotrecogin alfa(DB00055)									0.443609	408.059023	408.787976	118	148	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Missense_Mutation	SNP	150385887	150385887	3925	3	T	C	C	57	57	CP	C	4	4
CP	1356	broad.mit.edu	36	3	150408067	150408067	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150408067A>T	uc003ewy.2	-	c.809T>A	c.(808-810)CTC>CAC	p.L270H	CP_uc003ewx.2_Missense_Mutation_p.L51H|CP_uc003ewz.2_Missense_Mutation_p.L270H|CP_uc010hvf.1_5'UTR	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	270	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)			Drotrecogin alfa(DB00055)									0.224719	82.216359	94.608107	40	138	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Missense_Mutation	SNP	150408067	150408067	3925	3	A	T	T	11	11	CP	T	4	4
CP	1356	broad.mit.edu	36	3	150410811	150410811	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150410811T>C	uc003ewy.2	-	c.440A>G	c.(439-441)GAC>GGC	p.D147G	CP_uc003ewx.2_5'Flank|CP_uc003ewz.2_Missense_Mutation_p.D147G|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	147	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)			Drotrecogin alfa(DB00055)									0.441489	277.306123	277.865548	83	105	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Missense_Mutation	SNP	150410811	150410811	3925	3	T	C	C	58	58	CP	C	4	4
CP	1356	broad.mit.edu	36	3	150422213	150422213	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150422213C>T	uc003ewy.2	-	c.57G>A	c.(55-57)GCG>GCA	p.A19A	CP_uc003ewz.2_Silent_p.A19A	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	19					cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)			Drotrecogin alfa(DB00055)									0.459016	239.381709	239.648711	84	99	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Silent	SNP	150422213	150422213	3925	3	C	T	T	31	31	CP	T	1	1
TM4SF1	4071	broad.mit.edu	36	3	150572271	150572271	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150572271A>G	uc003exb.1	-	c.487T>C	c.(487-489)TTT>CTT	p.F163L	TM4SF1_uc003exc.1_Missense_Mutation_p.F74L	NM_014220	NP_055035	P30408	T4S1_HUMAN	transmembrane 4 superfamily member 1	163	Helical; (Probable).					integral to plasma membrane					0														0.182292	82.122743	100.311986	35	157	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		Missense_Mutation	SNP	150572271	150572271	16496	3	A	G	G	2	2	TM4SF1	G	4	4
WWTR1	25937	broad.mit.edu	36	3	150728326	150728326	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150728326G>A	uc003exe.1	-	c.892C>T	c.(892-894)CCT>TCT	p.P298S	WWTR1_uc003exf.1_Missense_Mutation_p.P298S|WWTR1_uc003exh.1_Missense_Mutation_p.P298S	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	298					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)	3														0.197158	228.790163	276.901173	111	452	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		Missense_Mutation	SNP	150728326	150728326	17991	3	G	A	A	41	41	WWTR1	A	2	2
WWTR1	25937	broad.mit.edu	36	3	150742834	150742834	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150742834C>T	uc003exe.1	-	c.749G>A	c.(748-750)CGC>CAC	p.R250H	WWTR1_uc003exf.1_Missense_Mutation_p.R250H|WWTR1_uc003exh.1_Missense_Mutation_p.R250H	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	250	Potential.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)	3														0.397661	181.855487	183.424345	68	103	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		Missense_Mutation	SNP	150742834	150742834	17991	3	C	T	T	27	27	WWTR1	T	1	1
RNF13	11342	broad.mit.edu	36	3	151072592	151072592	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:151072592C>T	uc003exn.2	+	c.282C>T	c.(280-282)ATC>ATT	p.I94I	RNF13_uc003exp.2_Silent_p.I94I|RNF13_uc010hvh.1_5'UTR	NM_007282	NP_899237	O43567	RNF13_HUMAN	ring finger protein 13	94	PA.|Lumenal (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)												0.245283	58.69736	64.962737	26	80	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		Silent	SNP	151072592	151072592	13914	3	C	T	T	31	31	RNF13	T	1	1
RNF13	11342	broad.mit.edu	36	3	151112500	151112500	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:151112500C>A	uc003exn.2	+	c.546C>A	c.(544-546)TAC>TAA	p.Y182*	RNF13_uc003exp.2_Nonsense_Mutation_p.Y182*|RNF13_uc010hvh.1_Nonsense_Mutation_p.Y63*	NM_007282	NP_899237	O43567	RNF13_HUMAN	ring finger protein 13	182	Lumenal (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)												0.191429	143.304893	174.459645	67	283	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		Nonsense_Mutation	SNP	151112500	151112500	13914	3	C	A	A	20	20	RNF13	A	5	3
TSC22D2	9819	broad.mit.edu	36	3	151658892	151658892	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:151658892G>A	uc003exv.1	+	c.2122G>A	c.(2122-2124)GAA>AAA	p.E708K	TSC22D2_uc003exw.1_Non-coding_Transcript|TSC22D2_uc003exx.1_Missense_Mutation_p.E684K	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	708					regulation of transcription, DNA-dependent		sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.157895	53.116652	74.332031	30	160	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		Missense_Mutation	SNP	151658892	151658892	17159	3	G	A	A	33	33	TSC22D2	A	2	2
EIF2A	83939	broad.mit.edu	36	3	151772963	151772963	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:151772963G>T	uc003eya.1	+	c.1340G>T	c.(1339-1341)AGA>ATA	p.R447I	SERP1_uc003exz.1_Intron|EIF2A_uc003eyb.1_Missense_Mutation_p.R320I|EIF2A_uc003eyc.1_Missense_Mutation_p.R320I|EIF2A_uc003eyd.1_Missense_Mutation_p.R222I	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	447					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)												0.423645	232.497588	233.533907	86	117	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		Missense_Mutation	SNP	151772963	151772963	5184	3	G	T	T	33	33	EIF2A	T	3	3
FAM194A	131831	broad.mit.edu	36	3	151867322	151867322	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:151867322G>T	uc003eyg.1	-	c.1670C>A	c.(1669-1671)TCT>TAT	p.S557Y	FAM194A_uc003eyh.1_Missense_Mutation_p.S411Y	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	557										ovary(1)|skin(1)	2														0.443925	258.776567	259.365655	95	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151867322	151867322	5737	3	G	T	T	33	33	FAM194A	T	3	3
FAM194A	131831	broad.mit.edu	36	3	151880964	151880964	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:151880964C>T	uc003eyg.1	-	c.1092G>A	c.(1090-1092)CAG>CAA	p.Q364Q	FAM194A_uc003eyh.1_Silent_p.Q218Q	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	364										ovary(1)|skin(1)	2														0.382488	229.949209	232.58488	83	134	CC		KEEP	---	---	---	---	capture			Silent	SNP	151880964	151880964	5737	3	C	T	T	32	32	FAM194A	T	2	2
FAM194A	131831	broad.mit.edu	36	3	151886470	151886470	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:151886470C>T	uc003eyg.1	-	c.639G>A	c.(637-639)TCG>TCA	p.S213S	FAM194A_uc003eyh.1_Silent_p.S67S	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	213										ovary(1)|skin(1)	2														0.209924	113.576511	133.984853	55	207	CC		KEEP	---	---	---	---	capture			Silent	SNP	151886470	151886470	5737	3	C	T	T	31	31	FAM194A	T	1	1
SIAH2	6478	broad.mit.edu	36	3	151942752	151942752	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:151942752G>A	uc003eyi.1	-	c.841C>T	c.(841-843)CGT>TGT	p.R281C		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	281	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2														0.162791	49.398228	67.985499	28	144	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		Missense_Mutation	SNP	151942752	151942752	14795	3	G	A	A	39	39	SIAH2	A	1	1
SIAH2	6478	broad.mit.edu	36	3	151963081	151963081	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:151963081G>T	uc003eyi.1	-	c.246C>A	c.(244-246)GTC>GTA	p.V82V		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	82	RING-type.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2														0.25	14.572752	16.40258	8	24	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		Silent	SNP	151963081	151963081	14795	3	G	T	T	33	33	SIAH2	T	3	3
P2RY14	9934	broad.mit.edu	36	3	152413954	152413954	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152413954G>T	uc003eyr.1	-	c.841C>A	c.(841-843)CTG>ATG	p.L281M	MED12L_uc003eyp.1_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.L281M|P2RY14_uc010hvl.1_Missense_Mutation_p.L281M	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	P2Y14 receptor	281	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)	2														0.198444	94.856849	116.635361	51	206	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Missense_Mutation	SNP	152413954	152413954	11764	3	G	T	T	33	33	P2RY14	T	3	3
GPR87	53836	broad.mit.edu	36	3	152494676	152494676	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152494676G>A	uc003eyt.1	-	c.1048C>T	c.(1048-1050)CGC>TGC	p.R350C	MED12L_uc003eyp.1_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	350	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1										39				0.176871	141.19788	184.591516	78	363	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Missense_Mutation	SNP	152494676	152494676	6991	3	G	A	A	37	37	GPR87	A	1	1
P2RY13	53829	broad.mit.edu	36	3	152528860	152528860	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152528860A>C	uc003eyu.1	-	c.611T>G	c.(610-612)CTT>CGT	p.L204R	MED12L_uc003eyp.1_Intron|P2RY13_uc003eyv.1_Missense_Mutation_p.L204R	NM_023914	NP_795713	Q9BPV8	P2Y13_HUMAN	Putative G protein-coupled receptor GPCR1.	225	Helical; Name=5; (Potential).					integral to membrane|plasma membrane				ovary(3)	3														0.20339	79.651122	94.179259	36	141	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		Missense_Mutation	SNP	152528860	152528860	11763	3	A	C	C	3	3	P2RY13	C	4	4
MED12L	116931	broad.mit.edu	36	3	152556479	152556479	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152556479G>T	uc003eyp.1	+	c.2518G>T	c.(2518-2520)GCA>TCA	p.A840S	P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A4S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	840					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5										59				0.391489	250.825866	253.255071	92	143	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Missense_Mutation	SNP	152556479	152556479	9818	3	G	T	T	34	34	MED12L	T	3	3
IGSF10	285313	broad.mit.edu	36	3	152637687	152637687	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152637687G>T	uc003ezb.1	-	c.7352C>A	c.(7351-7353)TCA>TAA	p.S2451*	IGSF10_uc003eyz.1_Nonsense_Mutation_p.S478*|IGSF10_uc003eza.1_Nonsense_Mutation_p.S430*	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2451	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5														0.204244	150.837611	181.468936	77	300	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Nonsense_Mutation	SNP	152637687	152637687	7898	3	G	T	T	45	45	IGSF10	T	5	3
IGSF10	285313	broad.mit.edu	36	3	152646312	152646312	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152646312C>T	uc003ezb.1	-	c.4147G>A	c.(4147-4149)GAA>AAA	p.E1383K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1383					cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5														0.44709	474.498067	475.423053	169	209	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Missense_Mutation	SNP	152646312	152646312	7898	3	C	T	T	31	31	IGSF10	T	1	1
IGSF10	285313	broad.mit.edu	36	3	152647497	152647497	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152647497T>C	uc003ezb.1	-	c.2962A>G	c.(2962-2964)ACA>GCA	p.T988A		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	988					cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5														0.244186	159.42271	174.790068	63	195	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Missense_Mutation	SNP	152647497	152647497	7898	3	T	C	C	59	59	IGSF10	C	4	4
SH3BP5	9467	broad.mit.edu	36	3	15273416	15273416	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:15273416G>A	uc003bzp.1	-	c.1098C>T	c.(1096-1098)GGC>GGT	p.G366G	SH3BP5_uc010hem.1_Non-coding_Transcript|SH3BP5_uc003bzq.1_Silent_p.G209G|SH3BP5_uc003bzr.1_Silent_p.G209G	NM_004844	NP_001018009	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	366	Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding				0														0.301587	48.099354	50.315123	19	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	15273416	15273416	14738	3	G	A	A	42	42	SH3BP5	A	2	2
AADACL2	344752	broad.mit.edu	36	3	152941173	152941173	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152941173C>T	uc003ezc.1	+	c.122C>T	c.(121-123)TCC>TTC	p.S41F	AADACL2_uc010hvn.1_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	63						extracellular region|integral to membrane	carboxylesterase activity				0														0.210227	78.177121	91.854369	37	139	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Missense_Mutation	SNP	152941173	152941173	12	3	C	T	T	30	30	AADACL2	T	2	2
AADACL2	344752	broad.mit.edu	36	3	152957899	152957899	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152957899G>T	uc003ezc.1	+	c.967G>T	c.(967-969)GAT>TAT	p.D323Y	AADACL2_uc010hvn.1_Missense_Mutation_p.D132Y	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	345						extracellular region|integral to membrane	carboxylesterase activity				0														0.222222	134.909992	156.659945	68	238	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Missense_Mutation	SNP	152957899	152957899	12	3	G	T	T	33	33	AADACL2	T	3	3
P2RY1	5028	broad.mit.edu	36	3	154036886	154036886	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:154036886G>A	uc003ezq.1	+	c.625G>A	c.(625-627)GAG>AAG	p.E209K		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	209	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0														0.170732	61.496484	82.520764	35	170	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		Missense_Mutation	SNP	154036886	154036886	11759	3	G	A	A	37	37	P2RY1	A	1	1
COLQ	8292	broad.mit.edu	36	3	15487057	15487057	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:15487057C>T	uc003bzx.1	-	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	COLQ_uc003bzv.1_Missense_Mutation_p.R226Q|COLQ_uc003bzz.1_Missense_Mutation_p.R227Q|COLQ_uc010heo.1_Missense_Mutation_p.R202Q|COLQ_uc003cab.1_Missense_Mutation_p.R236Q|COLQ_uc003cac.1_Non-coding_Transcript|COLQ_uc003cae.1_Missense_Mutation_p.R95Q|COLQ_uc003cad.1_Non-coding_Transcript	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	236	Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synapse					0														0.27957	127.734426	135.853758	52	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15487057	15487057	3851	3	C	T	T	31	31	COLQ	T	1	1
COLQ	8292	broad.mit.edu	36	3	15490766	15490766	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:15490766C>A	uc003bzx.1	-	c.573G>T	c.(571-573)AAG>AAT	p.K191N	COLQ_uc003bzv.1_Missense_Mutation_p.K181N|COLQ_uc003bzz.1_Missense_Mutation_p.K182N|COLQ_uc010heo.1_Missense_Mutation_p.K157N|COLQ_uc003cab.1_Missense_Mutation_p.K191N|COLQ_uc003cac.1_Non-coding_Transcript|COLQ_uc003cae.1_Missense_Mutation_p.K50N|COLQ_uc003cad.1_Non-coding_Transcript	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	191	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synapse					0														0.489879	346.557373	346.57945	121	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15490766	15490766	3851	3	C	A	A	24	24	COLQ	A	3	3
DHX36	170506	broad.mit.edu	36	3	155481108	155481108	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:155481108G>A	uc003ezy.2	-	c.2521C>T	c.(2521-2523)CCC>TCC	p.P841S	DHX36_uc010hvq.1_Missense_Mutation_p.P827S|DHX36_uc003ezz.2_Missense_Mutation_p.P812S	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	841						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1														0.295567	311.828439	327.015067	120	286	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		Missense_Mutation	SNP	155481108	155481108	4688	3	G	A	A	41	41	DHX36	A	2	2
DHX36	170506	broad.mit.edu	36	3	155515697	155515697	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:155515697C>A	uc003ezy.2	-	c.435G>T	c.(433-435)AAG>AAT	p.K145N	DHX36_uc010hvq.1_Missense_Mutation_p.K145N|DHX36_uc003ezz.2_Missense_Mutation_p.K145N	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	145	Potential.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1														0.187192	67.712299	86.336635	38	165	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		Missense_Mutation	SNP	155515697	155515697	4688	3	C	A	A	32	32	DHX36	A	3	3
HACL1	26061	broad.mit.edu	36	3	15591495	15591495	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:15591495A>C	uc003caf.1	-	c.902T>G	c.(901-903)TTT>TGT	p.F301C	HACL1_uc003cag.1_Intron|HACL1_uc010hep.1_Intron	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	301					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0														0.476744	135.887362	135.926357	41	45	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15591495	15591495	7223	3	A	C	C	1	1	HACL1	C	4	4
MME	4311	broad.mit.edu	36	3	156342578	156342578	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:156342578A>G	uc010hvr.1	+	c.1062A>G	c.(1060-1062)AAA>AAG	p.K354K	MME_uc003fab.1_Silent_p.K354K|MME_uc003fac.1_Silent_p.K354K|MME_uc003fad.1_Silent_p.K354K|MME_uc003fae.1_Silent_p.K354K	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	354	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)			Candoxatril(DB00616)									0.168157	221.513644	279.803575	94	465	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Silent	SNP	156342578	156342578	10035	3	A	G	G	2	2	MME	G	4	4
BTD	686	broad.mit.edu	36	3	15661673	15661673	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:15661673G>T	uc003cah.1	+	c.1306G>T	c.(1306-1308)GAG>TAG	p.E436*		NM_000060	NP_000051	P43251	BTD_HUMAN	biotinidase precursor	436					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0														0.544	379.67878	380.096079	136	114	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	15661673	15661673	1584	3	G	T	T	33	33	BTD	T	5	3
PLCH1	23007	broad.mit.edu	36	3	156681904	156681904	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:156681904G>A	uc010hvs.1	-	c.4515C>T	c.(4513-4515)ACC>ACT	p.T1505T	PLCH1_uc003fai.2_3'UTR|PLCH1_uc003faj.2_Silent_p.T1373T	NM_014996	NP_055811	Q4KWH8	PLCH1_HUMAN	phospholipase C-like 3 isoform b	1543					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1														0.182879	93.118512	117.351349	47	210	GG		KEEP	---	---	---	---	capture	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		Silent	SNP	156681904	156681904	12463	3	G	A	A	39	39	PLCH1	A	1	1
PLCH1	23007	broad.mit.edu	36	3	156682649	156682649	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:156682649G>A	uc010hvs.1	-	c.3770C>T	c.(3769-3771)GCC>GTC	p.A1257V	PLCH1_uc003fai.2_3'UTR|PLCH1_uc003faj.2_Missense_Mutation_p.A1125V	NM_014996	NP_055811	Q4KWH8	PLCH1_HUMAN	phospholipase C-like 3 isoform b	1295					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1														0.2	164.158019	198.457497	82	328	GG		KEEP	---	---	---	---	capture	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		Missense_Mutation	SNP	156682649	156682649	12463	3	G	A	A	42	42	PLCH1	A	2	2
PLCH1	23007	broad.mit.edu	36	3	156689203	156689203	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:156689203C>T	uc010hvs.1	-	c.2389G>A	c.(2389-2391)GAT>AAT	p.D797N	PLCH1_uc003fai.2_Missense_Mutation_p.D645N|PLCH1_uc003faj.2_Missense_Mutation_p.D645N	NM_014996	NP_055811	Q4KWH8	PLCH1_HUMAN	phospholipase C-like 3 isoform b	815	C2.	Calcium 3 (By similarity).			lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1														0.130435	25.261319	46.657772	21	140	CC		KEEP	---	---	---	---	capture	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		Missense_Mutation	SNP	156689203	156689203	12463	3	C	T	T	31	31	PLCH1	T	1	1
PLCH1	23007	broad.mit.edu	36	3	156691273	156691273	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:156691273C>A	uc010hvs.1	-	c.2296G>T	c.(2296-2298)GAC>TAC	p.D766Y	PLCH1_uc003fai.2_Missense_Mutation_p.D614Y|PLCH1_uc003faj.2_Missense_Mutation_p.D614Y	NM_014996	NP_055811	Q4KWH8	PLCH1_HUMAN	phospholipase C-like 3 isoform b	784	C2.	Calcium 2 (By similarity).			lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1														0.180952	65.615295	85.72172	38	172	CC		KEEP	---	---	---	---	capture	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		Missense_Mutation	SNP	156691273	156691273	12463	3	C	A	A	29	29	PLCH1	A	3	3
PLCH1	23007	broad.mit.edu	36	3	156694704	156694704	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:156694704C>T	uc010hvs.1	-	c.2012G>A	c.(2011-2013)CGA>CAA	p.R671Q	PLCH1_uc003fai.2_Missense_Mutation_p.R519Q|PLCH1_uc003faj.2_Missense_Mutation_p.R519Q	NM_014996	NP_055811	Q4KWH8	PLCH1_HUMAN	phospholipase C-like 3 isoform b	689	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1														0.292135	128.724249	135.615308	52	126	CC		KEEP	---	---	---	---	capture	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		Missense_Mutation	SNP	156694704	156694704	12463	3	C	T	T	31	31	PLCH1	T	1	1
PLCH1	23007	broad.mit.edu	36	3	156794475	156794475	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:156794475G>T	uc010hvs.1	-	c.329C>A	c.(328-330)GCT>GAT	p.A110D		NM_014996	NP_055811	Q4KWH8	PLCH1_HUMAN	phospholipase C-like 3 isoform b	128	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1														0.290076	92.998333	98.171749	38	93	GG		KEEP	---	---	---	---	capture	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		Missense_Mutation	SNP	156794475	156794475	12463	3	G	T	T	34	34	PLCH1	T	3	3
ANKRD28	23243	broad.mit.edu	36	3	15686953	15686953	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:15686953A>G	uc003caj.1	-	c.2990T>C	c.(2989-2991)TTC>TCC	p.F997S	ANKRD28_uc003cai.1_Missense_Mutation_p.F843S|ANKRD28_uc003cak.1_Non-coding_Transcript	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	997						nucleoplasm	protein binding			breast(1)	1														0.521739	555.914675	556.038081	156	143	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15686953	15686953	661	3	A	G	G	9	9	ANKRD28	G	4	4
ANKRD28	23243	broad.mit.edu	36	3	15695812	15695812	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:15695812C>A	uc003caj.1	-	c.2471G>T	c.(2470-2472)AGA>ATA	p.R824I	ANKRD28_uc003cai.1_Missense_Mutation_p.R670I|ANKRD28_uc003cak.1_Non-coding_Transcript	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	824	ANK 24.					nucleoplasm	protein binding			breast(1)	1														0.545455	457.801132	458.313483	156	130	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15695812	15695812	661	3	C	A	A	24	24	ANKRD28	A	3	3
GMPS	8833	broad.mit.edu	36	3	157111648	157111648	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:157111648C>T	uc003faq.1	+	c.772C>T	c.(772-774)CGT>TGT	p.R258C		NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	258					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Ovarian(153;896 1876 4149 15499 28134)				552				0.494624	267.094853	267.099438	92	94	CC		KEEP	---	---	---	---	capture	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		Missense_Mutation	SNP	157111648	157111648	6767	3	C	T	T	31	31	GMPS	T	1	1
ANKRD28	23243	broad.mit.edu	36	3	15768311	15768311	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:15768311C>A	uc003caj.1	-	c.211G>T	c.(211-213)GAC>TAC	p.D71Y	ANKRD28_uc003cai.1_5'UTR|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Missense_Mutation_p.D101Y|ANKRD28_uc003cam.1_Missense_Mutation_p.D104Y|ANKRD28_uc003cao.2_Non-coding_Transcript	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	71						nucleoplasm	protein binding			breast(1)	1														0.545455	16.348353	16.367886	6	5	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15768311	15768311	661	3	C	A	A	32	32	ANKRD28	A	3	3
TIPARP	25976	broad.mit.edu	36	3	157878578	157878578	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:157878578G>A	uc003fav.1	+	c.398G>A	c.(397-399)CGA>CAA	p.R133Q	TIPARP_uc003faw.1_Missense_Mutation_p.R133Q	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	133							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1						Ovarian(171;276 1987 3319 6837 11197)								0.343653	289.824157	296.799485	111	212	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		Missense_Mutation	SNP	157878578	157878578	16453	3	G	A	A	37	37	TIPARP	A	1	1
LEKR1	389170	broad.mit.edu	36	3	158193645	158193645	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:158193645G>T	uc003fba.1	+	c.82G>T	c.(82-84)GAA>TAA	p.E28*		NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	48											0														0.519774	252.670144	252.728968	92	85	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		Nonsense_Mutation	SNP	158193645	158193645	9041	3	G	T	T	33	33	LEKR1	T	5	3
VEPH1	79674	broad.mit.edu	36	3	158614399	158614399	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:158614399C>T	uc003fbj.1	-	c.871G>A	c.(871-873)GCA>ACA	p.A291T	VEPH1_uc003fbk.1_Missense_Mutation_p.A291T|VEPH1_uc010hvu.1_Missense_Mutation_p.A291T	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	291						plasma membrane				breast(3)|ovary(1)|lung(1)	5														0.186722	87.459017	109.600048	45	196	CC		KEEP	---	---	---	---	capture	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		Missense_Mutation	SNP	158614399	158614399	17721	3	C	T	T	26	26	VEPH1	T	2	2
GFM1	85476	broad.mit.edu	36	3	159863147	159863147	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:159863147G>T	uc003fce.1	+	c.1360G>T	c.(1360-1362)GCA>TCA	p.A454S	GFM1_uc003fcd.2_Missense_Mutation_p.A454S|GFM1_uc003fcf.1_Non-coding_Transcript|GFM1_uc003fcg.1_Missense_Mutation_p.A385S	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	454					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4														0.288515	260.661924	274.988833	103	254	GG		KEEP	---	---	---	---	capture	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Missense_Mutation	SNP	159863147	159863147	6609	3	G	T	T	34	34	GFM1	T	3	3
LXN	56925	broad.mit.edu	36	3	159867142	159867142	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:159867142A>G	uc003fch.1	-	c.656T>C	c.(655-657)GTA>GCA	p.V219A	GFM1_uc003fcd.2_Intron|GFM1_uc003fce.1_Intron|GFM1_uc003fcf.1_Intron|GFM1_uc003fcg.1_Intron	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	latexin	219						cytoplasm	metalloendopeptidase inhibitor activity|protein binding				0														0.164384	81.368697	104.798601	36	183	AA		KEEP	---	---	---	---	capture	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Missense_Mutation	SNP	159867142	159867142	9466	3	A	G	G	14	14	LXN	G	4	4
SMC4	10051	broad.mit.edu	36	3	161602448	161602448	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:161602448G>A	uc003fdh.1	+	c.191G>A	c.(190-192)AGC>AAC	p.S64N	IFT80_uc003fda.2_Intron|IFT80_uc010hwa.1_5'Flank|IFT80_uc003fdd.1_5'Flank|IFT80_uc003fde.1_5'Flank|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.S64N|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.1_Intron|SMC4_uc003fdj.1_Missense_Mutation_p.S64N|SMC4_uc010hwd.1_Missense_Mutation_p.S64N|MIR15B_hsa-mir-15b|MI0000438_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	64					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2														0.139942	59.666377	102.639258	48	295	GG		KEEP	---	---	---	---	capture	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		Missense_Mutation	SNP	161602448	161602448	15283	3	G	A	A	34	34	SMC4	A	2	2
SMC4	10051	broad.mit.edu	36	3	161604970	161604970	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:161604970G>T	uc003fdh.1	+	c.671G>T	c.(670-672)AGA>ATA	p.R224I	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.R224I|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.1_Missense_Mutation_p.R199I|SMC4_uc003fdj.1_Missense_Mutation_p.R224I|SMC4_uc010hwd.1_Missense_Mutation_p.R224I|MIR15B_hsa-mir-15b|MI0000438_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	224					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2														0.142077	33.613123	56.236791	26	157	GG		KEEP	---	---	---	---	capture	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		Missense_Mutation	SNP	161604970	161604970	15283	3	G	T	T	33	33	SMC4	T	3	3
SMC4	10051	broad.mit.edu	36	3	161624000	161624000	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:161624000C>T	uc003fdh.1	+	c.2113C>T	c.(2113-2115)CGC>TGC	p.R705C	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.R469C|SMC4_uc003fdi.1_Missense_Mutation_p.R680C|SMC4_uc003fdj.1_Missense_Mutation_p.R705C|SMC4_uc010hwd.1_Missense_Mutation_p.R705C|SMC4_uc003fdl.1_Missense_Mutation_p.R408C	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	705	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2														0.338843	317.625352	325.955272	123	240	CC		KEEP	---	---	---	---	capture	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		Missense_Mutation	SNP	161624000	161624000	15283	3	C	T	T	31	31	SMC4	T	1	1
GALNTL2	117248	broad.mit.edu	36	3	16191847	16191847	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:16191847G>A	uc003car.2	+	c.185G>A	c.(184-186)GGG>GAG	p.G62E	GALNTL2_uc003caq.2_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	62	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1														0.295	159.346686	166.867711	59	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16191847	16191847	6486	3	G	A	A	43	43	GALNTL2	A	2	2
NMD3	51068	broad.mit.edu	36	3	162435677	162435677	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:162435677G>A	uc003fec.2	+	c.560G>A	c.(559-561)CGT>CAT	p.R187H	NMD3_uc003feb.1_Missense_Mutation_p.R187H|NMD3_uc003fed.1_Missense_Mutation_p.R187H|NMD3_uc010hwh.1_Missense_Mutation_p.R7H	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	187					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1														0.12782	18.878173	36.844824	17	116	GG		KEEP	---	---	---	---	capture	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		Missense_Mutation	SNP	162435677	162435677	10891	3	G	A	A	40	40	NMD3	A	1	1
OTOL1	131149	broad.mit.edu	36	3	162703882	162703882	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:162703882T>G	uc003fef.1	+	c.892T>G	c.(892-894)TTA>GTA	p.L298V		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	hypothetical protein LOC131149	298	Collagen-like 3.					collagen					0														0.464286	82.446548	82.508299	26	30	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	162703882	162703882	11716	3	T	G	G	60	60	OTOL1	G	4	4
RFTN1	23180	broad.mit.edu	36	3	16343346	16343346	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:16343346C>T	uc003cay.1	-	c.1188G>A	c.(1186-1188)TCG>TCA	p.S396S	RFTN1_uc010hes.1_Silent_p.S360S|OXNAD1_uc003cax.2_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	396						plasma membrane				ovary(3)|central_nervous_system(1)	4														0.2	29.584228	35.862299	15	60	CC		KEEP	---	---	---	---	capture			Silent	SNP	16343346	16343346	13730	3	C	T	T	27	27	RFTN1	T	1	1
RFTN1	23180	broad.mit.edu	36	3	16510251	16510251	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:16510251T>C	uc003cay.1	-	c.130A>G	c.(130-132)ACG>GCG	p.T44A		NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	44						plasma membrane				ovary(3)|central_nervous_system(1)	4														0.547677	735.634505	736.445627	224	185	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16510251	16510251	13730	3	T	C	C	59	59	RFTN1	C	4	4
SLITRK3	22865	broad.mit.edu	36	3	166388464	166388464	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:166388464T>G	uc003fej.2	-	c.2849A>C	c.(2848-2850)AAA>ACA	p.K950T	SLITRK3_uc003fek.1_Missense_Mutation_p.K950T|SLITRK3_uc010hwj.1_Missense_Mutation_p.K950T	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein	950	Cytoplasmic (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.182109	262.087665	321.50307	114	512	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166388464	166388464	15242	3	T	G	G	64	64	SLITRK3	G	4	4
SLITRK3	22865	broad.mit.edu	36	3	166389686	166389686	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:166389686G>A	uc003fej.2	-	c.1627C>T	c.(1627-1629)CCC>TCC	p.P543S	SLITRK3_uc003fek.1_Missense_Mutation_p.P543S|SLITRK3_uc010hwj.1_Missense_Mutation_p.P543S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein	543	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(6)|pancreas(1)	7														0.54717	259.322354	259.62841	87	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166389686	166389686	15242	3	G	A	A	41	41	SLITRK3	A	2	2
SLITRK3	22865	broad.mit.edu	36	3	166390622	166390622	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:166390622C>A	uc003fej.2	-	c.691G>T	c.(691-693)GAA>TAA	p.E231*	SLITRK3_uc003fek.1_Nonsense_Mutation_p.E231*|SLITRK3_uc010hwj.1_Nonsense_Mutation_p.E231*	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein	231	Extracellular (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.542857	372.655356	373.043323	133	112	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	166390622	166390622	15242	3	C	A	A	32	32	SLITRK3	A	5	3
BCHE	590	broad.mit.edu	36	3	167030603	167030603	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:167030603C>T	uc003fem.2	-	c.913G>A	c.(913-915)GCA>ACA	p.A305T	BCHE_uc003fen.2_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	305					acetylcholine catabolic process|choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)									0.379913	237.862844	240.761687	87	142	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167030603	167030603	1379	3	C	T	T	28	28	BCHE	T	2	2
WDR49	151790	broad.mit.edu	36	3	168737380	168737380	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:168737380C>T	uc003fev.1	-	c.870G>A	c.(868-870)GCG>GCA	p.A290A	WDR49_uc003few.1_Intron|WDR49_uc003feu.1_Silent_p.A115A	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	290	WD 5.									large_intestine(1)|ovary(1)	2														0.651376	207.435383	209.63546	71	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	168737380	168737380	17875	3	C	T	T	19	19	WDR49	T	1	1
PLCL2	23228	broad.mit.edu	36	3	17027011	17027011	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:17027011C>A	uc003cbc.2	+	c.791C>A	c.(790-792)CCA>CAA	p.P264Q	PLCL2_uc010het.1_Intron	NM_015184	NP_055999	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 2	390					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2														0.508197	178.238779	178.245677	62	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17027011	17027011	12466	3	C	A	A	21	21	PLCL2	A	3	3
PLCL2	23228	broad.mit.edu	36	3	17027093	17027094	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17027093_17027094CG>TA	uc003cbc.2	+	c.873_874CG>TA	c.(871-876)TTCGAT>TTTAAT	p.D292N	PLCL2_uc010het.1_Intron	NM_015184	NP_055999	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 2	418					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2														0.556818	433.332841	434.073335	147	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	17027093	17027094	12466	3	CG	TA	TA	31	31	PLCL2	TA	1	1
PLCL2	23228	broad.mit.edu	36	3	17027536	17027536	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:17027536T>C	uc003cbc.2	+	c.1316T>C	c.(1315-1317)ATA>ACA	p.I439T	PLCL2_uc010het.1_3'UTR	NM_015184	NP_055999	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 2	565	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2														0.268657	52.027627	55.25918	18	49	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17027536	17027536	12466	3	T	C	C	49	49	PLCL2	C	4	4
MECOM	2122	broad.mit.edu	36	3	170316442	170316442	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:170316442A>G	uc003ffl.2	-	c.1828T>C	c.(1828-1830)TAC>CAC	p.Y610H	MECOM_uc010hwn.1_Missense_Mutation_p.Y638H|MECOM_uc010hwk.1_Missense_Mutation_p.Y473H|MECOM_uc010hwl.1_Missense_Mutation_p.Y514H|MECOM_uc003ffi.2_Missense_Mutation_p.Y450H|MECOM_uc003ffj.2_Missense_Mutation_p.Y515H|MECOM_uc003ffn.2_Missense_Mutation_p.Y440H|MECOM_uc010hwm.1_Missense_Mutation_p.Y450H|MECOM_uc003ffk.2_Missense_Mutation_p.Y440H	NM_005241	NP_005232	Q13465	MDS1_HUMAN	ecotropic viral integration site 1 isoform b	Error:Variant_position_missing_in_Q13465_after_alignment							sequence-specific DNA binding transcription factor activity			lung(3)|skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	8										646				0.148936	67.444092	95.171063	35	200	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170316442	170316442	9811	3	A	G	G	16	16	MECOM	G	4	4
MECOM	2122	broad.mit.edu	36	3	170316538	170316538	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:170316538C>T	uc003ffl.2	-	c.1732G>A	c.(1732-1734)GAA>AAA	p.E578K	MECOM_uc010hwn.1_Missense_Mutation_p.E606K|MECOM_uc010hwk.1_Missense_Mutation_p.E441K|MECOM_uc010hwl.1_Missense_Mutation_p.E482K|MECOM_uc003ffi.2_Missense_Mutation_p.E418K|MECOM_uc003ffj.2_Missense_Mutation_p.E483K|MECOM_uc003ffn.2_Missense_Mutation_p.E408K|MECOM_uc010hwm.1_Missense_Mutation_p.E418K|MECOM_uc003ffk.2_Missense_Mutation_p.E408K	NM_005241	NP_005232	Q13465	MDS1_HUMAN	ecotropic viral integration site 1 isoform b	Error:Variant_position_missing_in_Q13465_after_alignment							sequence-specific DNA binding transcription factor activity			lung(3)|skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	8										646				0.538813	339.437409	339.721963	118	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170316538	170316538	9811	3	C	T	T	29	29	MECOM	T	2	2
MECOM	2122	broad.mit.edu	36	3	170328374	170328374	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:170328374G>A	uc003ffl.2	-	c.698C>T	c.(697-699)ACG>ATG	p.T233M	MECOM_uc010hwn.1_Missense_Mutation_p.T261M|MECOM_uc010hwk.1_Missense_Mutation_p.T96M|MECOM_uc010hwl.1_Missense_Mutation_p.T137M|MECOM_uc003ffi.2_Missense_Mutation_p.T73M|MECOM_uc003ffj.2_Missense_Mutation_p.T137M|MECOM_uc003ffn.2_Missense_Mutation_p.T63M|MECOM_uc010hwm.1_Missense_Mutation_p.T73M|MECOM_uc003ffk.2_Missense_Mutation_p.T63M|MECOM_uc003ffm.1_Missense_Mutation_p.T137M	NM_005241	NP_005232	Q13465	MDS1_HUMAN	ecotropic viral integration site 1 isoform b	Error:Variant_position_missing_in_Q13465_after_alignment							sequence-specific DNA binding transcription factor activity			lung(3)|skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	8										646				0.358925	497.679526	506.809351	187	334	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170328374	170328374	9811	3	G	A	A	40	40	MECOM	A	1	1
MECOM	2122	broad.mit.edu	36	3	170331947	170331947	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:170331947C>A	uc003ffl.2	-	c.493G>T	c.(493-495)GAC>TAC	p.D165Y	MECOM_uc010hwn.1_Missense_Mutation_p.D193Y|MECOM_uc010hwk.1_Missense_Mutation_p.D28Y|MECOM_uc010hwl.1_Missense_Mutation_p.D69Y|MECOM_uc003ffi.2_Missense_Mutation_p.D5Y|MECOM_uc003ffj.2_Missense_Mutation_p.D69Y|MECOM_uc003ffn.2_5'UTR|MECOM_uc010hwm.1_Missense_Mutation_p.D5Y|MECOM_uc003ffk.2_5'UTR|MECOM_uc003ffm.1_Missense_Mutation_p.D69Y	NM_005241	NP_005232	Q13465	MDS1_HUMAN	ecotropic viral integration site 1 isoform b	100							sequence-specific DNA binding transcription factor activity			lung(3)|skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	8										646				0.371795	145.785184	148.046507	58	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170331947	170331947	9811	3	C	A	A	32	32	MECOM	A	3	3
MECOM	2122	broad.mit.edu	36	3	170863827	170863827	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:170863827G>A	uc010hwn.1	-	c.28C>T	c.(28-30)CTG>TTG	p.L10L		NM_001105077	NP_001098547	Q13465	MDS1_HUMAN	ecotropic viral integration site 1 isoform a	10							sequence-specific DNA binding transcription factor activity			lung(3)|skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	8										646				0.176471	12.328499	15.682914	6	28	GG		KEEP	---	---	---	---	capture			Silent	SNP	170863827	170863827	9811	3	G	A	A	36	36	MECOM	A	2	2
ARPM1	84517	broad.mit.edu	36	3	170968319	170968319	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:170968319T>C	uc003ffs.1	-	c.714A>G	c.(712-714)CAA>CAG	p.Q238Q	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	238						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)													0.392562	307.78513	310.226634	95	147	TT		KEEP	---	---	---	---	capture	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		Silent	SNP	170968319	170968319	994	3	T	C	C	60	60	ARPM1	C	4	4
LRRIQ4	344657	broad.mit.edu	36	3	171023086	171023086	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171023086C>T	uc003fgb.1	+	c.683C>T	c.(682-684)GCG>GTG	p.A228V		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	228	LRR 9.										0														0.37551	239.42902	242.764762	92	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171023086	171023086	9407	3	C	T	T	27	27	LRRIQ4	T	1	1
LRRC31	79782	broad.mit.edu	36	3	171057289	171057289	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171057289C>A	uc003fgc.1	-	c.553G>T	c.(553-555)GGA>TGA	p.G185*	LRRC31_uc010hwp.1_Nonsense_Mutation_p.G129*	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	185										ovary(2)	2	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)													0.178182	86.70479	113.533159	49	226	CC		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		Nonsense_Mutation	SNP	171057289	171057289	9361	3	C	A	A	24	24	LRRC31	A	5	3
SAMD7	344658	broad.mit.edu	36	3	171121748	171121748	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171121748C>T	uc003fgd.1	+	c.139C>T	c.(139-141)CCT>TCT	p.P47S	SAMD7_uc003fge.1_Missense_Mutation_p.P47S	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	47										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)													0.286096	273.455412	288.819633	107	267	CC		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		Missense_Mutation	SNP	171121748	171121748	14304	3	C	T	T	30	30	SAMD7	T	2	2
SAMD7	344658	broad.mit.edu	36	3	171127504	171127504	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171127504G>A	uc003fgd.1	+	c.760G>A	c.(760-762)GAG>AAG	p.E254K	SAMD7_uc003fge.1_Missense_Mutation_p.E254K	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	254										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)													0.311111	186.055618	193.211743	70	155	GG		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		Missense_Mutation	SNP	171127504	171127504	14304	3	G	A	A	33	33	SAMD7	A	2	2
GPR160	26996	broad.mit.edu	36	3	171284646	171284646	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171284646C>T	uc010hwq.1	+	c.192C>T	c.(190-192)TTC>TTT	p.F64F	GPR160_uc003fgi.1_Silent_p.F64F|GPR160_uc003fgj.1_Silent_p.F64F|GPR160_uc010hwr.1_Silent_p.F64F	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	64	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)													0.299065	157.805868	165.534966	64	150	CC		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		Silent	SNP	171284646	171284646	6939	3	C	T	T	31	31	GPR160	T	1	1
PHC3	80012	broad.mit.edu	36	3	171303065	171303065	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171303065C>T	uc003fgl.2	-	c.2729G>A	c.(2728-2730)AGA>AAA	p.R910K	PHC3_uc010hws.1_Missense_Mutation_p.R898K	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	898					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)													0.12987	25.485216	46.02646	20	134	CC		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		Missense_Mutation	SNP	171303065	171303065	12241	3	C	T	T	32	32	PHC3	T	2	2
PHC3	80012	broad.mit.edu	36	3	171337128	171337128	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171337128C>T	uc003fgl.2	-	c.692G>A	c.(691-693)CGC>CAC	p.R231H	PHC3_uc010hws.1_Missense_Mutation_p.R219H|PHC3_uc003fgm.2_Missense_Mutation_p.R231H	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	219	Ser-rich.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)													0.195402	32.933949	40.454557	17	70	CC		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		Missense_Mutation	SNP	171337128	171337128	12241	3	C	T	T	27	27	PHC3	T	1	1
PRKCI	5584	broad.mit.edu	36	3	171435797	171435797	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171435797G>A	uc003fgs.2	+	c.187G>A	c.(187-189)GAA>AAA	p.E63K		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	63	Regulatory domain.|OPR.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein phosphorylation|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)									551				0.369159	213.062204	216.284441	79	135	GG		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Missense_Mutation	SNP	171435797	171435797	12957	3	G	A	A	37	37	PRKCI	A	1	1
SKIL	6498	broad.mit.edu	36	3	171561299	171561299	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171561299A>C	uc003fgu.1	+	c.486A>C	c.(484-486)GAA>GAC	p.E162D	SKIL_uc003fgv.1_Missense_Mutation_p.E162D|SKIL_uc003fgw.1_Missense_Mutation_p.E162D	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	162					cell cycle arrest|negative regulation of cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)									159				0.19163	213.471445	253.796696	87	367	AA		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Missense_Mutation	SNP	171561299	171561299	14853	3	A	C	C	1	1	SKIL	C	4	4
SKIL	6498	broad.mit.edu	36	3	171581746	171581746	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171581746G>T	uc003fgu.1	+	c.1119G>T	c.(1117-1119)ATG>ATT	p.M373I	SKIL_uc003fgv.1_Missense_Mutation_p.M373I|SKIL_uc003fgw.1_Missense_Mutation_p.M373I	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	373					cell cycle arrest|negative regulation of cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)									159				0.333333	201.917016	207.529454	76	152	GG		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Missense_Mutation	SNP	171581746	171581746	14853	3	G	T	T	47	47	SKIL	T	3	3
SKIL	6498	broad.mit.edu	36	3	171591574	171591574	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171591574G>A	uc003fgu.1	+	c.1728G>A	c.(1726-1728)CAG>CAA	p.Q576Q	SKIL_uc003fgv.1_Silent_p.Q530Q|SKIL_uc003fgw.1_Silent_p.Q576Q	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	576	Potential.				cell cycle arrest|negative regulation of cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)									159				0.621951	164.539795	165.608406	51	31	GG		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Silent	SNP	171591574	171591574	14853	3	G	A	A	33	33	SKIL	A	2	2
CLDN11	5010	broad.mit.edu	36	3	171623685	171623685	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171623685G>A	uc003fgx.1	+	c.267G>A	c.(265-267)TCG>TCA	p.S89S	CLDN11_uc003fgy.1_Silent_p.S5S	NM_005602	NP_005593	O75508	CLD11_HUMAN	claudin 11	89	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(1)	1	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)													0.167293	162.472844	218.288162	89	443	GG		KEEP	---	---	---	---	capture	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Silent	SNP	171623685	171623685	3609	3	G	A	A	39	39	CLDN11	A	1	1
SLC7A14	57709	broad.mit.edu	36	3	171683930	171683930	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171683930C>A	uc003fgz.2	-	c.982G>T	c.(982-984)GCT>TCT	p.A328S		NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	328						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.147651	62.161875	97.654232	44	254	CC		KEEP	---	---	---	---	capture	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		Missense_Mutation	SNP	171683930	171683930	15193	3	C	A	A	26	26	SLC7A14	A	3	3
SLC7A14	57709	broad.mit.edu	36	3	171699356	171699356	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:171699356C>A	uc003fgz.2	-	c.553G>T	c.(553-555)GAA>TAA	p.E185*		NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	185						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)													0.239437	72.368659	81.179979	34	108	CC		KEEP	---	---	---	---	capture	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		Nonsense_Mutation	SNP	171699356	171699356	15193	3	C	A	A	32	32	SLC7A14	A	5	3
SLC2A2	6514	broad.mit.edu	36	3	172199625	172199625	+	Nonsense_Mutation	SNP	G	A	A	rs34066960	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:172199625G>A	uc003fhe.1	-	c.1093C>T	c.(1093-1095)CGA>TGA	p.R365*	SLC2A2_uc003fhf.1_Nonsense_Mutation_p.R192*	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	365	Cytoplasmic (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)													0.207048	83.055869	101.178156	47	180	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Nonsense_Mutation	SNP	172199625	172199625	15041	3	G	A	A	38	38	SLC2A2	A	5	1
SLC2A2	6514	broad.mit.edu	36	3	172205768	172205768	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:172205768G>A	uc003fhe.1	-	c.963C>T	c.(961-963)GGC>GGT	p.G321G	SLC2A2_uc003fhf.1_Silent_p.G148G	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	321	Helical; Name=7; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)													0.497326	265.543726	265.545027	93	94	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Silent	SNP	172205768	172205768	15041	3	G	A	A	38	38	SLC2A2	A	1	1
SLC2A2	6514	broad.mit.edu	36	3	172206552	172206552	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:172206552G>T	uc003fhe.1	-	c.649C>A	c.(649-651)CTG>ATG	p.L217M	SLC2A2_uc003fhf.1_Missense_Mutation_p.L44M	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	217	Extracellular (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)													0.541096	217.50162	217.713463	79	67	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Missense_Mutation	SNP	172206552	172206552	15041	3	G	T	T	33	33	SLC2A2	T	3	3
TNIK	23043	broad.mit.edu	36	3	172266684	172266684	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:172266684C>T	uc003fhh.1	-	c.3985G>A	c.(3985-3987)GAA>AAA	p.E1329K	TNIK_uc003fhi.1_Missense_Mutation_p.E1274K|TNIK_uc003fhj.1_Missense_Mutation_p.E1300K|TNIK_uc003fhk.1_Missense_Mutation_p.E1321K|TNIK_uc003fhl.1_Missense_Mutation_p.E1245K|TNIK_uc003fhm.1_Missense_Mutation_p.E1266K|TNIK_uc003fhn.1_Missense_Mutation_p.E1292K|TNIK_uc003fho.1_Missense_Mutation_p.E1237K|TNIK_uc003fhg.1_Missense_Mutation_p.E507K	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1329	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)									743				0.315315	175.863999	182.603584	70	152	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Missense_Mutation	SNP	172266684	172266684	16854	3	C	T	T	29	29	TNIK	T	2	2
TNIK	23043	broad.mit.edu	36	3	172284745	172284745	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:172284745G>A	uc003fhh.1	-	c.3062C>T	c.(3061-3063)TCG>TTG	p.S1021L	TNIK_uc003fhi.1_Missense_Mutation_p.S966L|TNIK_uc003fhj.1_Missense_Mutation_p.S992L|TNIK_uc003fhk.1_Missense_Mutation_p.S1013L|TNIK_uc003fhl.1_Missense_Mutation_p.S937L|TNIK_uc003fhm.1_Missense_Mutation_p.S958L|TNIK_uc003fhn.1_Missense_Mutation_p.S984L|TNIK_uc003fho.1_Missense_Mutation_p.S929L|TNIK_uc003fhg.1_Missense_Mutation_p.S199L|TNIK_uc003fhp.1_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1021	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)									743				0.493007	408.760422	408.772563	141	145	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Missense_Mutation	SNP	172284745	172284745	16854	3	G	A	A	37	37	TNIK	A	1	1
TNIK	23043	broad.mit.edu	36	3	172311200	172311200	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:172311200G>A	uc003fhh.1	-	c.2281C>T	c.(2281-2283)CGA>TGA	p.R761*	TNIK_uc003fhi.1_Nonsense_Mutation_p.R706*|TNIK_uc003fhj.1_Nonsense_Mutation_p.R732*|TNIK_uc003fhk.1_Nonsense_Mutation_p.R761*|TNIK_uc003fhl.1_Nonsense_Mutation_p.R677*|TNIK_uc003fhm.1_Nonsense_Mutation_p.R706*|TNIK_uc003fhn.1_Nonsense_Mutation_p.R732*|TNIK_uc003fho.1_Nonsense_Mutation_p.R677*	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	761	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)									743				0.238095	10.463029	11.780658	5	16	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Nonsense_Mutation	SNP	172311200	172311200	16854	3	G	A	A	37	37	TNIK	A	5	1
TNIK	23043	broad.mit.edu	36	3	172389313	172389313	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:172389313C>T	uc003fhh.1	-	c.511G>A	c.(511-513)GAC>AAC	p.D171N	TNIK_uc003fhi.1_Missense_Mutation_p.D171N|TNIK_uc003fhj.1_Missense_Mutation_p.D171N|TNIK_uc003fhk.1_Missense_Mutation_p.D171N|TNIK_uc003fhl.1_Missense_Mutation_p.D171N|TNIK_uc003fhm.1_Missense_Mutation_p.D171N|TNIK_uc003fhn.1_Missense_Mutation_p.D171N|TNIK_uc003fho.1_Missense_Mutation_p.D171N	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	171	Protein kinase.			DF->AA: Loss of autophosphorylation.	actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)									743				0.356522	113.435008	115.523775	41	74	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Missense_Mutation	SNP	172389313	172389313	16854	3	C	T	T	30	30	TNIK	T	2	2
PLD1	5337	broad.mit.edu	36	3	172862586	172862586	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:172862586G>A	uc003fhr.1	-	c.2298C>T	c.(2296-2298)TAC>TAT	p.Y766Y	PLD1_uc003fhs.1_Silent_p.Y766Y|PLD1_uc003fht.1_Silent_p.Y728Y|PLD1_uc003fhu.2_Silent_p.Y60Y|PLD1_uc003fhv.1_Silent_p.Y91Y	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1, phophatidylcholine-specific	766	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)	2	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)				Choline(DB00122)	NSCLC(149;2174 3517 34058)				595				0.329193	136.4157	140.582108	53	108	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Silent	SNP	172862586	172862586	12471	3	G	A	A	40	40	PLD1	A	1	1
FNDC3B	64778	broad.mit.edu	36	3	173448208	173448208	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:173448208G>A	uc010hwt.1	+	c.456G>A	c.(454-456)CCG>CCA	p.P152P	FNDC3B_uc003fhy.1_Silent_p.P148P|FNDC3B_uc003fhz.2_Silent_p.P148P|FNDC3B_uc003fia.2_Silent_p.P83P	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	152						endoplasmic reticulum|integral to membrane				ovary(1)|breast(1)	2	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)													0.391521	402.955896	407.095709	157	244	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	Silent	SNP	173448208	173448208	6212	3	G	A	A	38	38	FNDC3B	A	1	1
FNDC3B	64778	broad.mit.edu	36	3	173451980	173451980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:173451980C>T	uc010hwt.1	+	c.745C>T	c.(745-747)CGA>TGA	p.R249*	FNDC3B_uc003fhy.1_Nonsense_Mutation_p.R245*|FNDC3B_uc003fhz.2_Nonsense_Mutation_p.R245*|FNDC3B_uc003fia.2_Nonsense_Mutation_p.R180*	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	249						endoplasmic reticulum|integral to membrane				ovary(1)|breast(1)	2	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)													0.469697	81.70343	81.756728	31	35	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	Nonsense_Mutation	SNP	173451980	173451980	6212	3	C	T	T	27	27	FNDC3B	T	5	1
GHSR	2693	broad.mit.edu	36	3	173645679	173645679	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:173645679G>T	uc003fib.1	-	c.1067C>A	c.(1066-1068)TCT>TAT	p.S356Y		NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	356	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(172;0.00143)|Breast(254;0.197)					Esophageal Squamous(93;641 1401 20883 29581 34638)								0.154013	99.988522	152.804555	71	390	GG		KEEP	---	---	---	---	capture	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		Missense_Mutation	SNP	173645679	173645679	6643	3	G	T	T	33	33	GHSR	T	3	3
GHSR	2693	broad.mit.edu	36	3	173648751	173648751	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:173648751G>T	uc003fib.1	-	c.147C>A	c.(145-147)ACC>ACA	p.T49T	GHSR_uc003fic.1_Silent_p.T49T	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	49	Helical; Name=1; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(172;0.00143)|Breast(254;0.197)					Esophageal Squamous(93;641 1401 20883 29581 34638)								0.151515	11.999305	19.690224	10	56	GG		KEEP	---	---	---	---	capture	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		Silent	SNP	173648751	173648751	6643	3	G	T	T	35	35	GHSR	T	3	3
TNFSF10	8743	broad.mit.edu	36	3	173707116	173707116	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:173707116C>T	uc003fid.1	-	c.706G>A	c.(706-708)GAA>AAA	p.E236K	TNFSF10_uc003fie.1_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	236	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(1)	1	Ovarian(172;0.00197)|Breast(254;0.158)								p.E236*(HMC18-Tumor)	52				0.33945	299.898856	307.363018	111	216	CC		KEEP	---	---	---	---	capture	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		Missense_Mutation	SNP	173707116	173707116	16842	3	C	T	T	32	32	TNFSF10	T	2	2
TNFSF10	8743	broad.mit.edu	36	3	173707325	173707325	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:173707325T>G	uc003fid.1	-	c.497A>C	c.(496-498)AAC>ACC	p.N166T	TNFSF10_uc003fie.1_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	166	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(1)	1	Ovarian(172;0.00197)|Breast(254;0.158)									52				0.536145	302.489073	302.677836	89	77	TT		KEEP	---	---	---	---	capture	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		Missense_Mutation	SNP	173707325	173707325	16842	3	T	G	G	60	60	TNFSF10	G	4	4
SPATA16	83893	broad.mit.edu	36	3	174090109	174090109	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:174090109G>A	uc003fin.2	-	c.1655C>T	c.(1654-1656)ACT>ATT	p.T552I		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	552					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)	2	Ovarian(172;0.00319)|Breast(254;0.197)													0.20649	138.942662	166.035855	70	269	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		Missense_Mutation	SNP	174090109	174090109	15509	3	G	A	A	36	36	SPATA16	A	2	2
SPATA16	83893	broad.mit.edu	36	3	174157246	174157246	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:174157246C>T	uc003fin.2	-	c.996G>A	c.(994-996)GCG>GCA	p.A332A		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	332					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)	2	Ovarian(172;0.00319)|Breast(254;0.197)													0.282051	134.735536	143.0632	55	140	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		Silent	SNP	174157246	174157246	15509	3	C	T	T	31	31	SPATA16	T	1	1
TBC1D5	9779	broad.mit.edu	36	3	17419690	17419690	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:17419690C>A	uc010hev.1	-	c.496G>T	c.(496-498)GAT>TAT	p.D166Y	TBC1D5_uc003cbe.1_Missense_Mutation_p.D166Y|TBC1D5_uc003cbf.1_Missense_Mutation_p.D166Y|TBC1D5_uc010hew.1_Missense_Mutation_p.D118Y	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	166	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1														0.228571	15.978024	18.347186	8	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17419690	17419690	16149	3	C	A	A	32	32	TBC1D5	A	3	3
TBC1D5	9779	broad.mit.edu	36	3	17421451	17421451	+	Missense_Mutation	SNP	G	T	T	rs34457748	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:17421451G>T	uc010hev.1	-	c.283C>A	c.(283-285)CTT>ATT	p.L95I	TBC1D5_uc003cbe.1_Missense_Mutation_p.L95I|TBC1D5_uc003cbf.1_Missense_Mutation_p.L95I|TBC1D5_uc010hew.1_Missense_Mutation_p.L47I	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	95	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1														0.26087	26.777965	29.160228	12	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17421451	17421451	16149	3	G	T	T	33	33	TBC1D5	T	3	3
TBC1D5	9779	broad.mit.edu	36	3	17422930	17422930	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:17422930C>T	uc010hev.1	-	c.260G>A	c.(259-261)CGC>CAC	p.R87H	TBC1D5_uc003cbe.1_Missense_Mutation_p.R87H|TBC1D5_uc003cbf.1_Missense_Mutation_p.R87H|TBC1D5_uc010hew.1_Missense_Mutation_p.R39H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	87	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1														0.277108	156.658939	167.804158	69	180	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17422930	17422930	16149	3	C	T	T	27	27	TBC1D5	T	1	1
SPATA16	83893	broad.mit.edu	36	3	174317862	174317862	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:174317862C>A	uc003fin.2	-	c.354G>T	c.(352-354)AAG>AAT	p.K118N		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	118					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)	2	Ovarian(172;0.00319)|Breast(254;0.197)													0.538462	546.176755	546.633146	196	168	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		Missense_Mutation	SNP	174317862	174317862	15509	3	C	A	A	32	32	SPATA16	A	3	3
NLGN1	22871	broad.mit.edu	36	3	175479620	175479620	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:175479620C>A	uc003fio.1	+	c.1135C>A	c.(1135-1137)CTC>ATC	p.L379I	NLGN1_uc010hww.1_Missense_Mutation_p.L419I|NLGN1_uc003fip.1_Missense_Mutation_p.L379I	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	396	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)													0.385269	355.083908	359.167514	136	217	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		Missense_Mutation	SNP	175479620	175479620	10864	3	C	A	A	32	32	NLGN1	A	3	3
NLGN1	22871	broad.mit.edu	36	3	175481020	175481020	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:175481020C>T	uc003fio.1	+	c.1705C>T	c.(1705-1707)CGT>TGT	p.R569C	NLGN1_uc003fip.1_Missense_Mutation_p.R569C	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	586	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)													0.182243	83.018649	103.295573	39	175	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		Missense_Mutation	SNP	175481020	175481020	10864	3	C	T	T	23	23	NLGN1	T	1	1
NAALADL2	254827	broad.mit.edu	36	3	176297565	176297565	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:176297565G>A	uc003fit.1	+	c.335G>A	c.(334-336)CGA>CAA	p.R112Q	NAALADL2_uc003fiu.1_Missense_Mutation_p.R105Q	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	112	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)												0.213115	79.829613	93.745531	39	144	GG		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	176297565	176297565	10525	3	G	A	A	37	37	NAALADL2	A	1	1
NAALADL2	254827	broad.mit.edu	36	3	176434414	176434414	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:176434414G>T	uc003fit.1	+	c.546_splice	c.e3-1	p.R182_splice	NAALADL2_uc003fiu.1_Splice_Site_SNP_p.R175_splice|NAALADL2_uc010hwy.1_Splice_Site_SNP	NM_207015	NP_996898			N-acetylated alpha-linked acidic dipeptidase 2						proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)												0.21519	34.433173	40.34887	17	62	GG		KEEP	---	---	---	---	capture	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)	Splice_Site_SNP	SNP	176434414	176434414	10525	3	G	T	T	33	33	NAALADL2	T	5	3
PIK3CA	5290	broad.mit.edu	36	3	180404087	180404087	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180404087G>T	uc003fjk.1	+	c.875G>T	c.(874-876)AGC>ATC	p.S292I		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	292					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)					Colon(199;1504 1750 3362 26421 31210 32040)		57		621	TCGA GBM(8;5.49e-07)			0.178988	76.443106	101.339273	46	211	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Missense_Mutation	SNP	180404087	180404087	12337	3	G	T	T	34	34	PIK3CA	T	3	3
MFN1	55669	broad.mit.edu	36	3	180552486	180552486	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180552486C>T	uc003fjt.1	+	c.301C>T	c.(301-303)CGG>TGG	p.R101W	MFN1_uc003fjs.1_Missense_Mutation_p.R73W|MFN1_uc010hxb.1_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	73	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)													0.486486	733.667418	733.74955	252	266	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		Missense_Mutation	SNP	180552486	180552486	9913	3	C	T	T	31	31	MFN1	T	1	1
MFN1	55669	broad.mit.edu	36	3	180559458	180559458	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180559458G>A	uc003fjt.1	+	c.469G>A	c.(469-471)GGA>AGA	p.G157R	MFN1_uc003fjs.1_Missense_Mutation_p.G129R|MFN1_uc010hxb.1_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	129	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)													0.146893	48.627889	69.834048	26	151	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		Missense_Mutation	SNP	180559458	180559458	9913	3	G	A	A	35	35	MFN1	A	2	2
MFN1	55669	broad.mit.edu	36	3	180568002	180568002	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180568002C>T	uc003fjt.1	+	c.919C>T	c.(919-921)CGT>TGT	p.R307C	MFN1_uc003fjs.1_Missense_Mutation_p.R279C|MFN1_uc010hxb.1_Non-coding_Transcript|MFN1_uc010hxc.1_Missense_Mutation_p.R132C	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	279	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)													0.346457	114.964478	117.606356	44	83	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		Missense_Mutation	SNP	180568002	180568002	9913	3	C	T	T	31	31	MFN1	T	1	1
MFN1	55669	broad.mit.edu	36	3	180577617	180577617	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180577617A>C	uc003fjt.1	+	c.1275A>C	c.(1273-1275)AAA>AAC	p.K425N	MFN1_uc003fjs.1_Missense_Mutation_p.K397N|MFN1_uc010hxb.1_Intron|MFN1_uc010hxc.1_Missense_Mutation_p.K250N	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	397	Potential.|Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)													0.175573	53.150163	66.146289	23	108	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		Missense_Mutation	SNP	180577617	180577617	9913	3	A	C	C	1	1	MFN1	C	4	4
GNB4	59345	broad.mit.edu	36	3	180616980	180616980	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180616980T>G	uc003fjv.2	-	c.262A>C	c.(262-264)AAT>CAT	p.N88H	GNB4_uc003fju.2_5'UTR	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	88	WD 1.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)					Melanoma(105;1405 1491 7265 20440 33721)								0.602941	294.782582	296.045485	82	54	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		Missense_Mutation	SNP	180616980	180616980	6789	3	T	G	G	64	64	GNB4	G	4	4
MRPL47	57129	broad.mit.edu	36	3	180789407	180789407	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180789407G>T	uc003fjz.1	-	c.700C>A	c.(700-702)CTT>ATT	p.L234I	MRPL47_uc003fka.1_Missense_Mutation_p.L124I|MRPL47_uc003fkb.1_Missense_Mutation_p.L214I	NM_020409	NP_817125	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	234					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)													0.460967	335.737779	336.097864	124	145	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		Missense_Mutation	SNP	180789407	180789407	10204	3	G	T	T	33	33	MRPL47	T	3	3
MRPL47	57129	broad.mit.edu	36	3	180802239	180802239	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180802239T>G	uc003fjz.1	-	c.278A>C	c.(277-279)AAA>ACA	p.K93T	MRPL47_uc003fka.1_5'UTR|MRPL47_uc003fkb.1_Missense_Mutation_p.K73T	NM_020409	NP_817125	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	93					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)													0.355102	283.166312	287.694601	87	158	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		Missense_Mutation	SNP	180802239	180802239	10204	3	T	G	G	64	64	MRPL47	G	4	4
USP13	8975	broad.mit.edu	36	3	180961593	180961593	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180961593G>T	uc003fkg.1	+	c.1949_splice	c.e17-1	p.P650_splice		NM_003940	NP_003931			ubiquitin specific protease 13						ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)													0.130282	43.061061	80.854159	37	247	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		Splice_Site_SNP	SNP	180961593	180961593	17606	3	G	T	T	34	34	USP13	T	5	3
USP13	8975	broad.mit.edu	36	3	180964587	180964587	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180964587C>T	uc003fkg.1	+	c.2196C>T	c.(2194-2196)ATC>ATT	p.I732I		NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin specific protease 13	732	UBA 2.				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)													0.141593	42.44966	70.458862	32	194	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		Silent	SNP	180964587	180964587	17606	3	C	T	T	31	31	USP13	T	1	1
PEX5L	51555	broad.mit.edu	36	3	181075909	181075909	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:181075909G>A	uc003fki.1	-	c.556C>T	c.(556-558)CGA>TGA	p.R186*	PEX5L_uc003fkj.1_Nonsense_Mutation_p.R151*|PEX5L_uc010hxd.1_Nonsense_Mutation_p.R184*	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	186					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)									648				0.329749	237.792327	244.967072	92	187	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		Nonsense_Mutation	SNP	181075909	181075909	12171	3	G	A	A	37	37	PEX5L	A	5	1
TTC14	151613	broad.mit.edu	36	3	181810683	181810683	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:181810683T>C	uc003fkk.1	+	c.1972T>C	c.(1972-1974)TAT>CAT	p.Y658H	TTC14_uc003fkl.1_3'UTR|TTC14_uc003fkm.1_Intron	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	658							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)													0.615385	404.650854	406.780076	112	70	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		Missense_Mutation	SNP	181810683	181810683	17235	3	T	C	C	53	53	TTC14	C	4	4
CCDC39	339829	broad.mit.edu	36	3	181817042	181817042	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:181817042C>A	uc010hxe.1	-	c.2542G>T	c.(2542-2544)GAA>TAA	p.E848*	CCDC39_uc003fkn.1_Non-coding_Transcript|TTC14_uc003fkm.1_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	848					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)													0.635135	138.833626	140.019307	47	27	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		Nonsense_Mutation	SNP	181817042	181817042	2933	3	C	A	A	32	32	CCDC39	A	5	3
CCDC39	339829	broad.mit.edu	36	3	181859948	181859948	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:181859948C>A	uc010hxe.1	-	c.724G>T	c.(724-726)GAT>TAT	p.D242Y	CCDC39_uc003fkn.1_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	242	Potential.				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)													0.472727	213.21587	213.323999	78	87	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		Missense_Mutation	SNP	181859948	181859948	2933	3	C	A	A	32	32	CCDC39	A	3	3
CCDC39	339829	broad.mit.edu	36	3	181860159	181860159	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:181860159C>A	uc010hxe.1	-	c.609G>T	c.(607-609)CAG>CAT	p.Q203H	CCDC39_uc003fkn.1_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	203	Potential.				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)													0.446078	251.38055	251.899726	91	113	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		Missense_Mutation	SNP	181860159	181860159	2933	3	C	A	A	24	24	CCDC39	A	3	3
FXR1	8087	broad.mit.edu	36	3	182149772	182149772	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:182149772C>T	uc003fkq.1	+	c.577C>T	c.(577-579)CGT>TGT	p.R193C	FXR1_uc003fkp.1_Missense_Mutation_p.R108C|FXR1_uc003fkr.1_Missense_Mutation_p.R193C	NM_005087	NP_001013457	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	193					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)													0.542587	510.904808	511.403823	172	145	CC		KEEP	---	---	---	---	capture	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		Missense_Mutation	SNP	182149772	182149772	6366	3	C	T	T	31	31	FXR1	T	1	1
FXR1	8087	broad.mit.edu	36	3	182170744	182170744	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:182170744C>T	uc003fkq.1	+	c.1507C>T	c.(1507-1509)CGT>TGT	p.R503C	FXR1_uc003fkp.1_Missense_Mutation_p.R418C|FXR1_uc003fkr.1_Missense_Mutation_p.R503C	NM_005087	NP_001013457	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	503	Poly-Arg.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)													0.591928	393.720556	395.364969	132	91	CC		KEEP	---	---	---	---	capture	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		Missense_Mutation	SNP	182170744	182170744	6366	3	C	T	T	31	31	FXR1	T	1	1
SATB1	6304	broad.mit.edu	36	3	18368533	18368533	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:18368533G>A	uc003cbi.1	-	c.1734C>T	c.(1732-1734)GGC>GGT	p.G578G	SATB1_uc003cbh.1_Silent_p.G578G|SATB1_uc003cbj.1_Silent_p.G578G	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	578					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			ovary(1)|lung(1)|skin(1)	3														0.272727	122.357182	131.582127	54	144	GG		KEEP	---	---	---	---	capture			Silent	SNP	18368533	18368533	14334	3	G	A	A	38	38	SATB1	A	1	1
ATP11B	23200	broad.mit.edu	36	3	184036584	184036584	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184036584G>A	uc003flb.1	+	c.383G>A	c.(382-384)CGA>CAA	p.R128Q	ATP11B_uc003fla.2_Missense_Mutation_p.R128Q	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	128	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner 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	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)													0.551724	190.988829	191.256646	64	52	GG		KEEP	---	---	---	---	capture	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		Missense_Mutation	SNP	184036584	184036584	1139	3	G	A	A	37	37	ATP11B	A	1	1
ATP11B	23200	broad.mit.edu	36	3	184066051	184066051	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184066051C>T	uc003flb.1	+	c.1314C>T	c.(1312-1314)CCC>CCT	p.P438P	ATP11B_uc003flc.2_Silent_p.P22P	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	438	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner 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	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)													0.407821	427.079574	429.736633	146	212	CC		KEEP	---	---	---	---	capture	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		Silent	SNP	184066051	184066051	1139	3	C	T	T	23	23	ATP11B	T	1	1
ATP11B	23200	broad.mit.edu	36	3	184066886	184066886	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184066886C>A	uc003flb.1	+	c.1580C>A	c.(1579-1581)TCT>TAT	p.S527Y	ATP11B_uc003flc.2_Missense_Mutation_p.S111Y	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	527	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner 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	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)													0.342412	220.696964	226.347545	88	169	CC		KEEP	---	---	---	---	capture	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		Missense_Mutation	SNP	184066886	184066886	1139	3	C	A	A	32	32	ATP11B	A	3	3
SATB1	6304	broad.mit.edu	36	3	18411000	18411000	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:18411000G>T	uc003cbi.1	-	c.1164C>A	c.(1162-1164)ATC>ATA	p.I388I	SATB1_uc003cbh.1_Silent_p.I388I|SATB1_uc003cbj.1_Silent_p.I388I	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	388	CUT 1.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			ovary(1)|lung(1)|skin(1)	3														0.567944	463.618377	464.767074	163	124	GG		KEEP	---	---	---	---	capture			Silent	SNP	18411000	18411000	14334	3	G	T	T	33	33	SATB1	T	3	3
DCUN1D1	54165	broad.mit.edu	36	3	184164407	184164407	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184164407G>A	uc003fld.1	-	c.345C>T	c.(343-345)TGC>TGT	p.C115C		NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	115	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)													0.181452	81.068925	104.689512	45	203	GG		KEEP	---	---	---	---	capture	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		Silent	SNP	184164407	184164407	4484	3	G	A	A	38	38	DCUN1D1	A	1	1
DCUN1D1	54165	broad.mit.edu	36	3	184166081	184166081	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184166081C>T	uc003fld.1	-	c.158G>A	c.(157-159)CGA>CAA	p.R53Q		NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	53						ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)													0.401099	201.729493	203.28848	73	109	CC		KEEP	---	---	---	---	capture	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		Missense_Mutation	SNP	184166081	184166081	4484	3	C	T	T	31	31	DCUN1D1	T	1	1
MCCC1	56922	broad.mit.edu	36	3	184242101	184242101	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184242101G>A	uc003fle.1	-	c.1215C>T	c.(1213-1215)CTC>CTT	p.L405L	MCCC1_uc010hxi.1_Non-coding_Transcript|MCCC1_uc003flf.1_Silent_p.L288L|MCCC1_uc003flg.1_Silent_p.L296L	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	405	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)				Biotin(DB00121)									0.199203	108.196753	129.338567	50	201	GG		KEEP	---	---	---	---	capture	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Silent	SNP	184242101	184242101	9763	3	G	A	A	33	33	MCCC1	A	2	2
MCCC1	56922	broad.mit.edu	36	3	184271483	184271483	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184271483C>T	uc003fle.1	-	c.759G>A	c.(757-759)CCG>CCA	p.P253P	MCCC1_uc010hxi.1_Non-coding_Transcript|MCCC1_uc003flf.1_Silent_p.P136P|MCCC1_uc003flg.1_Silent_p.P144P	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	253	Biotin carboxylation.|ATP-grasp.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)				Biotin(DB00121)									0.209524	45.986275	54.191779	22	83	CC		KEEP	---	---	---	---	capture	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Silent	SNP	184271483	184271483	9763	3	C	T	T	31	31	MCCC1	T	1	1
LAMP3	27074	broad.mit.edu	36	3	184354645	184354645	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184354645T>C	uc003flh.2	-	c.278A>G	c.(277-279)AAC>AGC	p.N93S		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	93	Lumenal (Potential).|Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)													0.137405	64.251599	97.551174	36	226	TT		KEEP	---	---	---	---	capture	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		Missense_Mutation	SNP	184354645	184354645	8942	3	T	C	C	60	60	LAMP3	C	4	4
MCF2L2	23101	broad.mit.edu	36	3	184495917	184495917	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184495917C>A	uc003fli.1	-	c.1540G>T	c.(1540-1542)GAA>TAA	p.E514*	MCF2L2_uc003flj.1_Nonsense_Mutation_p.E514*	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	514					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(1)|breast(1)	4	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)													0.310734	122.831888	128.496759	55	122	CC		KEEP	---	---	---	---	capture	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)		Nonsense_Mutation	SNP	184495917	184495917	9769	3	C	A	A	30	30	MCF2L2	A	5	3
MCF2L2	23101	broad.mit.edu	36	3	184518693	184518693	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184518693C>T	uc003fli.1	-	c.610G>A	c.(610-612)GAA>AAA	p.E204K	MCF2L2_uc003flj.1_Missense_Mutation_p.E204K|MCF2L2_uc003flp.1_Missense_Mutation_p.E239K	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	204					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(1)|breast(1)	4	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)													0.386861	146.850299	148.384295	53	84	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	184518693	184518693	9769	3	C	T	T	31	31	MCF2L2	T	1	1
KLHL6	89857	broad.mit.edu	36	3	184692556	184692556	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184692556G>T	uc003flr.1	-	c.1719C>A	c.(1717-1719)ATC>ATA	p.I573I	KLHL6_uc010hxk.1_Non-coding_Transcript|KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	573	Kelch 6.									ovary(1)	1	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)													0.32	252.348339	261.012529	96	204	GG		KEEP	---	---	---	---	capture	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		Silent	SNP	184692556	184692556	8707	3	G	T	T	37	37	KLHL6	T	3	3
KLHL24	54800	broad.mit.edu	36	3	184879643	184879643	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184879643G>A	uc003flv.1	+	c.1678G>A	c.(1678-1680)GAC>AAC	p.D560N	KLHL24_uc003flw.1_Missense_Mutation_p.D560N	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	560	Kelch 6.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)													0.2875	238.450717	251.422332	92	228	GG		KEEP	---	---	---	---	capture	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		Missense_Mutation	SNP	184879643	184879643	8691	3	G	A	A	33	33	KLHL24	A	2	2
YEATS2	55689	broad.mit.edu	36	3	184991301	184991301	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184991301C>A	uc003fly.1	+	c.2936C>A	c.(2935-2937)TCT>TAT	p.S979Y	YEATS2_uc003flz.2_Missense_Mutation_p.S58Y	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	979					histone H3 acetylation|negative regulation of gene-specific transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	specific transcriptional repressor activity|TBP-class protein binding			ovary(2)|large_intestine(1)	3	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)													0.431818	192.440302	193.158481	76	100	CC		KEEP	---	---	---	---	capture	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Missense_Mutation	SNP	184991301	184991301	18055	3	C	A	A	32	32	YEATS2	A	3	3
PARL	55486	broad.mit.edu	36	3	185042810	185042810	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185042810C>T	uc003fmd.1	-	c.727G>A	c.(727-729)GAG>AAG	p.E243K	PARL_uc003fme.1_Intron	NM_018622	NP_061092	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like isoform 1	243	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity				0	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)													0.16158	168.771381	229.474442	90	467	CC		KEEP	---	---	---	---	capture	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Missense_Mutation	SNP	185042810	185042810	11868	3	C	T	T	32	32	PARL	T	2	2
ABCC5	10057	broad.mit.edu	36	3	185143395	185143395	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185143395G>T	uc003fmg.1	-	c.3508C>A	c.(3508-3510)CTG>ATG	p.L1170M	ABCC5_uc010hxl.1_Missense_Mutation_p.L1127M|ABCC5_uc003fmf.1_Missense_Mutation_p.L698M	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1170						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L1170fs*9(1)		ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)													0.495536	295.783064	295.787282	111	113	GG		KEEP	---	---	---	---	capture	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Missense_Mutation	SNP	185143395	185143395	57	3	G	T	T	33	33	ABCC5	T	3	3
ABCC5	10057	broad.mit.edu	36	3	185179025	185179025	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185179025G>T	uc003fmg.1	-	c.1256C>A	c.(1255-1257)TCT>TAT	p.S419Y	ABCC5_uc010hxl.1_Missense_Mutation_p.S419Y|ABCC5_uc003fmf.1_De_novo_Start_InFrame	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	419	ABC transmembrane type-1 1.|Helical; (Potential).					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)													0.568966	269.066118	269.76627	99	75	GG		KEEP	---	---	---	---	capture	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Missense_Mutation	SNP	185179025	185179025	57	3	G	T	T	33	33	ABCC5	T	3	3
ABCC5	10057	broad.mit.edu	36	3	185179116	185179116	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185179116G>A	uc003fmg.1	-	c.1165C>T	c.(1165-1167)CGT>TGT	p.R389C	ABCC5_uc010hxl.1_Missense_Mutation_p.R389C|ABCC5_uc003fmf.1_5'UTR	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	389	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)													0.165605	36.741461	53.423579	26	131	GG		KEEP	---	---	---	---	capture	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Missense_Mutation	SNP	185179116	185179116	57	3	G	A	A	38	38	ABCC5	A	1	1
ABCC5	10057	broad.mit.edu	36	3	185182315	185182315	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185182315G>A	uc003fmg.1	-	c.1041C>T	c.(1039-1041)TGC>TGT	p.C347C	ABCC5_uc010hxl.1_Silent_p.C347C|ABCC5_uc003fmf.1_5'UTR	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	347	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)													0.55414	240.834551	241.241471	87	70	GG		KEEP	---	---	---	---	capture	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Silent	SNP	185182315	185182315	57	3	G	A	A	38	38	ABCC5	A	1	1
ABCC5	10057	broad.mit.edu	36	3	185183051	185183051	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185183051C>T	uc003fmg.1	-	c.881G>A	c.(880-882)GGC>GAC	p.G294D	ABCC5_uc010hxl.1_Missense_Mutation_p.G294D|ABCC5_uc003fmf.1_5'UTR	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	294	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)													0.431694	213.524197	214.260738	79	104	CC		KEEP	---	---	---	---	capture	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Missense_Mutation	SNP	185183051	185183051	57	3	C	T	T	26	26	ABCC5	T	2	2
ABCC5	10057	broad.mit.edu	36	3	185183350	185183350	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185183350T>C	uc003fmg.1	-	c.731A>G	c.(730-732)TAC>TGC	p.Y244C	ABCC5_uc010hxl.1_Missense_Mutation_p.Y244C|ABCC5_uc003fmf.1_5'Flank	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	244	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)													0.37037	334.318918	338.685124	110	187	TT		KEEP	---	---	---	---	capture	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Missense_Mutation	SNP	185183350	185183350	57	3	T	C	C	57	57	ABCC5	C	4	4
HTR3D	200909	broad.mit.edu	36	3	185239062	185239062	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185239062A>C	uc003fmj.1	+	c.566A>C	c.(565-567)CAG>CCG	p.Q189P	HTR3D_uc010hxp.1_Missense_Mutation_p.Q143P	NM_182537	NP_872343	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	364	Cytoplasmic (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)													0.144231	24.456766	37.128844	15	89	AA		KEEP	---	---	---	---	capture	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Missense_Mutation	SNP	185239062	185239062	7747	3	A	C	C	7	7	HTR3D	C	4	4
HTR3E	285242	broad.mit.edu	36	3	185305836	185305836	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185305836A>G	uc010hxr.1	+	c.725A>G	c.(724-726)GAG>GGG	p.E242G	HTR3E_uc010hxq.1_Missense_Mutation_p.E216G|HTR3E_uc003fml.2_Missense_Mutation_p.E201G|HTR3E_uc003fmm.1_Missense_Mutation_p.E231G|HTR3E_uc003fmn.1_Missense_Mutation_p.E216G	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	216	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)					Melanoma(7;227 727 6634 44770)								0.318841	121.386155	125.448964	44	94	AA		KEEP	---	---	---	---	capture	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Missense_Mutation	SNP	185305836	185305836	7748	3	A	G	G	11	11	HTR3E	G	4	4
HTR3E	285242	broad.mit.edu	36	3	185307017	185307017	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185307017G>T	uc010hxr.1	+	c.1291G>T	c.(1291-1293)GAA>TAA	p.E431*	HTR3E_uc010hxq.1_Nonsense_Mutation_p.E405*|HTR3E_uc003fml.2_Nonsense_Mutation_p.E390*|HTR3E_uc003fmm.1_Nonsense_Mutation_p.E420*|HTR3E_uc003fmn.1_Nonsense_Mutation_p.E405*	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	405	Cytoplasmic (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)					Melanoma(7;227 727 6634 44770)								0.154639	21.154105	32.222817	15	82	GG		KEEP	---	---	---	---	capture	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Nonsense_Mutation	SNP	185307017	185307017	7748	3	G	T	T	33	33	HTR3E	T	5	3
AP2M1	1173	broad.mit.edu	36	3	185380693	185380693	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185380693C>T	uc010hxu.1	+	c.383C>T	c.(382-384)GCG>GTG	p.A128V	AP2M1_uc010hxt.1_5'UTR|AP2M1_uc003fmw.1_Missense_Mutation_p.A128V|AP2M1_uc003fmx.1_Missense_Mutation_p.A128V|AP2M1_uc003fmy.1_Missense_Mutation_p.A128V	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	128					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)													0.430556	83.514632	83.816546	31	41	CC		KEEP	---	---	---	---	capture	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Missense_Mutation	SNP	185380693	185380693	752	3	C	T	T	27	27	AP2M1	T	1	1
AP2M1	1173	broad.mit.edu	36	3	185381451	185381451	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185381451C>T	uc010hxu.1	+	c.550C>T	c.(550-552)CTC>TTC	p.L184F	AP2M1_uc010hxt.1_5'UTR|AP2M1_uc003fmw.1_Missense_Mutation_p.L182F|AP2M1_uc003fmx.1_Intron|AP2M1_uc003fmy.1_Missense_Mutation_p.L182F	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	184	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)													0.541053	782.980559	783.675316	257	218	CC		KEEP	---	---	---	---	capture	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Missense_Mutation	SNP	185381451	185381451	752	3	C	T	T	28	28	AP2M1	T	2	2
ALG3	10195	broad.mit.edu	36	3	185443136	185443136	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185443136C>T	uc003fne.1	-	c.1177G>A	c.(1177-1179)GAG>AAG	p.E393K		NM_005787	NP_005778	Q92685	ALG3_HUMAN	alpha-1,3-mannosyltransferase ALG3 isoform a	393					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activity				0	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)													0.491803	87.1475	87.151033	30	31	CC		KEEP	---	---	---	---	capture	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Missense_Mutation	SNP	185443136	185443136	523	3	C	T	T	31	31	ALG3	T	1	1
ALG3	10195	broad.mit.edu	36	3	185445994	185445994	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185445994C>T	uc003fne.1	-	c.400G>A	c.(400-402)GCT>ACT	p.A134T	ALG3_uc003fnf.1_Missense_Mutation_p.A94T|ALG3_uc003fng.1_Missense_Mutation_p.A86T	NM_005787	NP_005778	Q92685	ALG3_HUMAN	alpha-1,3-mannosyltransferase ALG3 isoform a	134	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activity				0	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)													0.275	53.973369	57.586241	22	58	CC		KEEP	---	---	---	---	capture	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Missense_Mutation	SNP	185445994	185445994	523	3	C	T	T	26	26	ALG3	T	2	2
ECE2	9718	broad.mit.edu	36	3	185485484	185485484	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185485484T>G	uc003fni.2	+	c.1399T>G	c.(1399-1401)TTC>GTC	p.F467V	ECE2_uc003fnl.2_Missense_Mutation_p.F395V|ECE2_uc003fnm.2_Missense_Mutation_p.F349V|ECE2_uc003fnk.2_Missense_Mutation_p.F320V|ECE2_uc010hxv.1_Missense_Mutation_p.F111V	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	467	Lumenal (Potential).|Endothelin-converting enzyme 2 region.			F -> S (in Ref. 7; AAI42951).	brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)	2	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.217172	96.902546	111.53956	43	155	TT		KEEP	---	---	---	---	capture	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Missense_Mutation	SNP	185485484	185485484	5077	3	T	G	G	64	64	ECE2	G	4	4
ECE2	9718	broad.mit.edu	36	3	185491906	185491906	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185491906C>T	uc003fni.2	+	c.2460C>T	c.(2458-2460)TTC>TTT	p.F820F	ECE2_uc003fnl.2_Silent_p.F748F|ECE2_uc003fnm.2_Silent_p.F702F|ECE2_uc003fnk.2_Silent_p.F673F	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	820	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)	2	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)													0.207447	78.823565	93.73326	39	149	CC		KEEP	---	---	---	---	capture	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Silent	SNP	185491906	185491906	5077	3	C	T	T	31	31	ECE2	T	1	1
THPO	7066	broad.mit.edu	36	3	185573303	185573303	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185573303C>T	uc003fol.1	-	c.754G>A	c.(754-756)GAA>AAA	p.E252K	THPO_uc003fom.1_Missense_Mutation_p.E248K|THPO_uc003fon.1_Missense_Mutation_p.R213Q|THPO_uc003foo.1_Intron|THPO_uc003fop.1_Missense_Mutation_p.R209Q|THPO_uc010hyb.1_Intron|THPO_uc003foq.1_Missense_Mutation_p.R173Q	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	252					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)													0.142458	68.834019	112.926485	51	307	CC		KEEP	---	---	---	---	capture	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Missense_Mutation	SNP	185573303	185573303	16400	3	C	T	T	31	31	THPO	T	1	1
MAGEF1	64110	broad.mit.edu	36	3	185911435	185911435	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185911435G>T	uc003fpa.1	-	c.869C>A	c.(868-870)GCT>GAT	p.A290D		NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	290										ovary(1)	1	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)													0.439252	125.368605	125.718164	47	60	GG		KEEP	---	---	---	---	capture	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		Missense_Mutation	SNP	185911435	185911435	9570	3	G	T	T	34	34	MAGEF1	T	3	3
VPS8	23355	broad.mit.edu	36	3	186069461	186069461	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186069461A>G	uc003fpb.1	+	c.1534A>G	c.(1534-1536)ACA>GCA	p.T512A	VPS8_uc010hyd.1_Missense_Mutation_p.T512A	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	514							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)													0.341463	44.442666	45.35085	14	27	AA		KEEP	---	---	---	---	capture	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		Missense_Mutation	SNP	186069461	186069461	17785	3	A	G	G	14	14	VPS8	G	4	4
VPS8	23355	broad.mit.edu	36	3	186196955	186196955	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186196955G>A	uc003fpb.1	+	c.3802G>A	c.(3802-3804)GAA>AAA	p.E1268K	VPS8_uc010hyd.1_Missense_Mutation_p.E1178K|VPS8_uc010hye.1_Missense_Mutation_p.E697K	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	1270	RING-type; atypical.						zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)													0.56	263.507044	263.975895	84	66	GG		KEEP	---	---	---	---	capture	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		Missense_Mutation	SNP	186196955	186196955	17785	3	G	A	A	33	33	VPS8	A	2	2
EHHADH	1962	broad.mit.edu	36	3	186404926	186404926	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186404926C>T	uc003fpf.1	-	c.882G>A	c.(880-882)GCG>GCA	p.A294A		NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	294	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)				NADH(DB00157)									0.593137	349.082595	350.625163	121	83	CC		KEEP	---	---	---	---	capture	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		Silent	SNP	186404926	186404926	5171	3	C	T	T	27	27	EHHADH	T	1	1
EHHADH	1962	broad.mit.edu	36	3	186418663	186418663	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186418663A>G	uc003fpf.1	-	c.523T>C	c.(523-525)TCA>CCA	p.S175P		NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	175	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)				NADH(DB00157)									0.492925	731.273217	731.291514	209	215	AA		KEEP	---	---	---	---	capture	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		Missense_Mutation	SNP	186418663	186418663	5171	3	A	G	G	11	11	EHHADH	G	4	4
MAP3K13	9175	broad.mit.edu	36	3	186638048	186638048	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186638048G>T	uc010hyf.1	+	c.595G>T	c.(595-597)GAA>TAA	p.E199*	MAP3K13_uc003fph.2_5'UTR|MAP3K13_uc003fpi.1_Nonsense_Mutation_p.E199*|MAP3K13_uc010hyg.1_Intron	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	199	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)									296				0.203448	109.337451	133.044739	59	231	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		Nonsense_Mutation	SNP	186638048	186638048	9630	3	G	T	T	33	33	MAP3K13	T	5	3
MAP3K13	9175	broad.mit.edu	36	3	186666245	186666245	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186666245C>T	uc010hyf.1	+	c.1405C>T	c.(1405-1407)CGT>TGT	p.R469C	MAP3K13_uc003fpi.1_Missense_Mutation_p.R469C|MAP3K13_uc010hyg.1_Missense_Mutation_p.R159C	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	469					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)									296				0.348485	303.41334	310.104266	115	215	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		Missense_Mutation	SNP	186666245	186666245	9630	3	C	T	T	31	31	MAP3K13	T	1	1
SENP2	59343	broad.mit.edu	36	3	186790640	186790640	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186790640G>T	uc003fpn.1	+	c.146G>T	c.(145-147)AGA>ATA	p.R49I		NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	49	Nuclear localization signal.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)													0.547368	143.186195	143.369939	52	43	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		Missense_Mutation	SNP	186790640	186790640	14533	3	G	T	T	33	33	SENP2	T	3	3
TRA2B	6434	broad.mit.edu	36	3	187118873	187118873	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187118873C>T	uc003fpv.1	-	c.830G>A	c.(829-831)CGT>CAT	p.R277H	TRA2B_uc003fpt.1_Non-coding_Transcript|TRA2B_uc003fpu.1_Non-coding_Transcript|TRA2B_uc003fpw.1_Missense_Mutation_p.R257H	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	277	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2														0.137056	32.179089	57.342641	27	170	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	187118873	187118873	16978	3	C	T	T	19	19	TRA2B	T	1	1
TRA2B	6434	broad.mit.edu	36	3	187122527	187122527	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187122527G>A	uc003fpv.1	-	c.604C>T	c.(604-606)CCA>TCA	p.P202S	TRA2B_uc003fpt.1_Non-coding_Transcript|TRA2B_uc003fpu.1_Non-coding_Transcript|TRA2B_uc003fpw.1_Missense_Mutation_p.P202S|TRA2B_uc010hym.1_Missense_Mutation_p.P102S	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	202	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2														0.418478	220.125356	221.19635	77	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	187122527	187122527	16978	3	G	A	A	42	42	TRA2B	A	2	2
TRA2B	6434	broad.mit.edu	36	3	187124436	187124436	+	Missense_Mutation	SNP	C	A	A	rs13081902	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187124436C>A	uc003fpv.1	-	c.364G>T	c.(364-366)GTA>TTA	p.V122L	TRA2B_uc003fpt.1_Non-coding_Transcript|TRA2B_uc003fpu.1_Non-coding_Transcript|TRA2B_uc003fpw.1_Missense_Mutation_p.V122L|TRA2B_uc010hym.1_Missense_Mutation_p.V22L	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	122	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2														0.344828	133.196099	136.284034	50	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	187124436	187124436	16978	3	C	A	A	20	20	TRA2B	A	3	3
DGKG	1608	broad.mit.edu	36	3	187388808	187388808	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187388808G>T	uc003fqa.1	-	c.1972C>A	c.(1972-1974)CTC>ATC	p.L658I	DGKG_uc003fqb.1_Missense_Mutation_p.L619I|DGKG_uc003fqc.1_Missense_Mutation_p.L633I	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	658					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)|central_nervous_system(1)|skin(1)	4	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)				Phosphatidylserine(DB00144)					546				0.528139	339.626202	339.783114	122	109	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Missense_Mutation	SNP	187388808	187388808	4648	3	G	T	T	33	33	DGKG	T	3	3
DGKG	1608	broad.mit.edu	36	3	187412330	187412330	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187412330G>A	uc003fqa.1	-	c.1865C>T	c.(1864-1866)TCG>TTG	p.S622L	DGKG_uc003fqb.1_Missense_Mutation_p.S583L|DGKG_uc003fqc.1_Missense_Mutation_p.S597L	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	622					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)|central_nervous_system(1)|skin(1)	4	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)				Phosphatidylserine(DB00144)					546				0.35	185.083054	189.056245	70	130	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Missense_Mutation	SNP	187412330	187412330	4648	3	G	A	A	37	37	DGKG	A	1	1
DGKG	1608	broad.mit.edu	36	3	187472827	187472827	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187472827C>A	uc003fqa.1	-	c.911_splice	c.e11-1	p.Y304_splice	DGKG_uc003fqb.1_Splice_Site_SNP_p.Y304_splice|DGKG_uc003fqc.1_Splice_Site_SNP_p.Y304_splice	NM_001346	NP_001337			diacylglycerol kinase gamma isoform 1						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)|central_nervous_system(1)|skin(1)	4	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)				Phosphatidylserine(DB00144)					546				0.532787	182.160478	182.272979	65	57	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Splice_Site_SNP	SNP	187472827	187472827	4648	3	C	A	A	32	32	DGKG	A	5	3
CRYGS	1427	broad.mit.edu	36	3	187739211	187739211	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187739211C>T	uc003fqe.1	-	c.505G>A	c.(505-507)GCT>ACT	p.A169T	CRYGS_uc003fqf.1_Missense_Mutation_p.A169T	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	169	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)													0.269388	156.688432	168.420298	66	179	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	Missense_Mutation	SNP	187739211	187739211	4058	3	C	T	T	28	28	CRYGS	T	2	2
TBCCD1	55171	broad.mit.edu	36	3	187764677	187764677	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187764677C>A	uc003fqg.1	-	c.136G>T	c.(136-138)GAA>TAA	p.E46*	TBCCD1_uc003fqh.1_Intron	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	46					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)													0.126984	23.156647	48.832464	24	165	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	Nonsense_Mutation	SNP	187764677	187764677	16158	3	C	A	A	32	32	TBCCD1	A	5	3
HRG	3273	broad.mit.edu	36	3	187872255	187872255	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187872255G>A	uc003fqq.1	+	c.541G>A	c.(541-543)GAG>AAG	p.E181K		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	181	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)													0.344262	112.108478	114.724018	42	80	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	Missense_Mutation	SNP	187872255	187872255	7646	3	G	A	A	37	37	HRG	A	1	1
HRG	3273	broad.mit.edu	36	3	187878325	187878325	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187878325C>T	uc003fqq.1	+	c.1537C>T	c.(1537-1539)CCA>TCA	p.P513S		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	513					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)													0.153527	60.71468	88.389472	37	204	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	Missense_Mutation	SNP	187878325	187878325	7646	3	C	T	T	30	30	HRG	T	2	2
KNG1	3827	broad.mit.edu	36	3	187942706	187942706	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187942706G>A	uc010hyt.1	+	c.1827G>A	c.(1825-1827)ACG>ACA	p.T609T	KNG1_uc003fqr.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	609					blood coagulation, intrinsic pathway|diuresis|elevation of cytosolic calcium ion concentration|inflammatory response|natriuresis|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding				0	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)				Ouabain(DB01092)									0.536232	542.41649	542.815567	185	160	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Silent	SNP	187942706	187942706	8741	3	G	A	A	37	37	KNG1	A	1	1
RFC4	5984	broad.mit.edu	36	3	187993007	187993007	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187993007A>G	uc003fqy.1	-	c.641T>C	c.(640-642)ATT>ACT	p.I214T	RFC4_uc003fqz.1_Missense_Mutation_p.I214T	NM_181573	NP_853551	P35249	RFC4_HUMAN	replication factor C 4	214					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)									599				0.548718	743.605388	744.414179	214	176	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	Missense_Mutation	SNP	187993007	187993007	13718	3	A	G	G	4	4	RFC4	G	4	4
ADIPOQ	9370	broad.mit.edu	36	3	188053565	188053565	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188053565A>G	uc003fra.1	+	c.24A>G	c.(22-24)CTA>CTG	p.L8L	ADIPOQ_uc010hyy.1_Silent_p.L8L	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor	8					brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)													0.555556	272.935426	273.327751	80	64	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	Silent	SNP	188053565	188053565	318	3	A	G	G	14	14	ADIPOQ	G	4	4
ST6GAL1	6480	broad.mit.edu	36	3	188243471	188243471	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188243471T>C	uc003frb.1	+	c.286T>C	c.(286-288)TGG>CGG	p.W96R	ST6GAL1_uc003frc.1_Intron|ST6GAL1_uc003frd.1_Missense_Mutation_p.W96R	NM_173216	NP_775323	P15907	SIAT1_HUMAN	ST6 beta-galactosamide	96	Lumenal (Potential).				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)	1	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)													0.376344	195.206412	197.701112	70	116	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	Missense_Mutation	SNP	188243471	188243471	15739	3	T	C	C	59	59	ST6GAL1	C	4	4
ST6GAL1	6480	broad.mit.edu	36	3	188274665	188274665	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188274665T>G	uc003frb.1	+	c.829T>G	c.(829-831)TTC>GTC	p.F277V	ST6GAL1_uc003frc.1_Missense_Mutation_p.F46V|ST6GAL1_uc003frd.1_Missense_Mutation_p.F277V	NM_173216	NP_775323	P15907	SIAT1_HUMAN	ST6 beta-galactosamide	277	Lumenal (Potential).				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)	1	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)													0.32493	368.49786	378.19639	116	241	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	Missense_Mutation	SNP	188274665	188274665	15739	3	T	G	G	64	64	ST6GAL1	G	4	4
ST6GAL1	6480	broad.mit.edu	36	3	188276107	188276107	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188276107G>A	uc003frb.1	+	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	ST6GAL1_uc003frc.1_Missense_Mutation_p.R117H|ST6GAL1_uc003frd.1_Missense_Mutation_p.R348H	NM_173216	NP_775323	P15907	SIAT1_HUMAN	ST6 beta-galactosamide	348	Lumenal (Potential).				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)	1	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)													0.562814	319.698239	320.379732	112	87	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	Missense_Mutation	SNP	188276107	188276107	15739	3	G	A	A	38	38	ST6GAL1	A	1	1
MASP1	5648	broad.mit.edu	36	3	188436236	188436236	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188436236T>C	uc003fri.1	-	c.2117A>G	c.(2116-2118)AAT>AGT	p.N706S	MASP1_uc003frh.1_Intron|MASP1_uc003frj.1_Missense_Mutation_p.N675S	NM_139125	NP_624302	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	686	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)													0.154255	59.062036	80.534438	29	159	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	Missense_Mutation	SNP	188436236	188436236	9706	3	T	C	C	52	52	MASP1	C	4	4
MASP1	5648	broad.mit.edu	36	3	188461309	188461309	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188461309T>C	uc003fri.1	-	c.461A>G	c.(460-462)GAC>GGC	p.D154G	MASP1_uc003frh.1_Missense_Mutation_p.D154G|MASP1_uc003frj.1_Missense_Mutation_p.D123G|MASP1_uc003frk.1_Missense_Mutation_p.D154G	NM_139125	NP_624302	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	154	Interaction with FCN2.|Interaction with MBL2.|EGF-like; calcium-binding.|Homodimerization (By similarity).				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)													0.381503	201.083445	203.220832	66	107	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	Missense_Mutation	SNP	188461309	188461309	9706	3	T	C	C	58	58	MASP1	C	4	4
BCL6	604	broad.mit.edu	36	3	188929540	188929540	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188929540G>A	uc003frp.2	-	c.1347C>T	c.(1345-1347)ATC>ATT	p.I449I	BCL6_uc010hza.1_Silent_p.I347I|BCL6_uc003frq.1_Silent_p.I449I	NM_001706	NP_001697	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	449					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)									277				0.435065	187.101636	187.667217	67	87	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	Silent	SNP	188929540	188929540	1397	3	G	A	A	37	37	BCL6	A	1	1
LPP	4026	broad.mit.edu	36	3	190073242	190073242	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:190073242C>T	uc003frs.1	+	c.1707C>T	c.(1705-1707)TGC>TGT	p.C569C		NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	569	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|ovary(1)	162	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)								184				0.491525	80.376315	80.379793	29	30	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(93;0.00602)	Silent	SNP	190073242	190073242	9296	3	C	T	T	27	27	LPP	T	1	1
TPRG1	285386	broad.mit.edu	36	3	190511013	190511013	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:190511013A>C	uc003frv.1	+	c.624A>C	c.(622-624)GAA>GAC	p.E208D	TPRG1_uc003frw.1_Missense_Mutation_p.E208D	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	208											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)												0.548507	516.758689	517.308648	147	121	AA		KEEP	---	---	---	---	capture	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	Missense_Mutation	SNP	190511013	190511013	16962	3	A	C	C	1	1	TPRG1	C	4	4
TPRG1	285386	broad.mit.edu	36	3	190521169	190521169	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:190521169G>A	uc003frv.1	+	c.694G>A	c.(694-696)GGA>AGA	p.G232R	TPRG1_uc003frw.1_Missense_Mutation_p.G232R	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	232											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)												0.428571	217.486096	218.266847	75	100	GG		KEEP	---	---	---	---	capture	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	Missense_Mutation	SNP	190521169	190521169	16962	3	G	A	A	47	47	TPRG1	A	2	2
TPRG1	285386	broad.mit.edu	36	3	190521257	190521257	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:190521257G>A	uc003frv.1	+	c.782G>A	c.(781-783)CGC>CAC	p.R261H	TPRG1_uc003frw.1_Missense_Mutation_p.R261H	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	261											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)												0.124224	21.184853	43.417907	20	141	GG		KEEP	---	---	---	---	capture	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	Missense_Mutation	SNP	190521257	190521257	16962	3	G	A	A	38	38	TPRG1	A	1	1
TP63	8626	broad.mit.edu	36	3	191068350	191068350	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:191068350T>G	uc003fry.2	+	c.917T>G	c.(916-918)TTC>TGC	p.F306C	TP63_uc003frx.2_Missense_Mutation_p.F306C|TP63_uc003frz.2_Missense_Mutation_p.F306C|TP63_uc010hzc.1_Missense_Mutation_p.F306C|TP63_uc003fsa.2_Missense_Mutation_p.F212C|TP63_uc003fsb.2_Missense_Mutation_p.F212C|TP63_uc003fsc.2_Missense_Mutation_p.F212C|TP63_uc003fsd.2_Missense_Mutation_p.F212C|TP63_uc010hzd.1_Missense_Mutation_p.F127C|TP63_uc003fse.1_Missense_Mutation_p.F187C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	306					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 gene-specific transcription from RNA polymerase II promoter|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|promoter binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			lung(4)|ovary(2)|skin(2)	8	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)									423				0.453125	199.745008	199.988716	58	70	TT		KEEP	---	---	---	---	capture	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	Missense_Mutation	SNP	191068350	191068350	16936	3	T	G	G	62	62	TP63	G	4	4
TP63	8626	broad.mit.edu	36	3	191091362	191091362	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:191091362G>T	uc003fry.2	+	c.1743G>T	c.(1741-1743)ATG>ATT	p.M581I	TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.M487I|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Missense_Mutation_p.M402I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	581	SAM.				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 gene-specific transcription from RNA polymerase II promoter|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|promoter binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			lung(4)|ovary(2)|skin(2)	8	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)									423				0.546875	205.448499	205.691875	70	58	GG		KEEP	---	---	---	---	capture	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	Missense_Mutation	SNP	191091362	191091362	16936	3	G	T	T	47	47	TP63	T	3	3
CLDN16	10686	broad.mit.edu	36	3	191605369	191605369	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:191605369C>T	uc003fsi.1	+	c.552C>T	c.(550-552)GTC>GTT	p.V184V	CLDN16_uc010hze.1_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	184	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)													0.472803	330.644629	330.799322	113	126	CC		KEEP	---	---	---	---	capture	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	Silent	SNP	191605369	191605369	3613	3	C	T	T	30	30	CLDN16	T	2	2
FGF12	2257	broad.mit.edu	36	3	193370954	193370954	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:193370954C>T	uc003fsx.1	-	c.600G>A	c.(598-600)CCG>CCA	p.P200P	FGF12_uc003fsy.1_Silent_p.P138P	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	200					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|pancreas(1)	2	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)												0.19195	118.44546	147.098289	62	261	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	Silent	SNP	193370954	193370954	6078	3	C	T	T	31	31	FGF12	T	1	1
C3orf59	151963	broad.mit.edu	36	3	193999105	193999105	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:193999105C>T	uc003fsz.1	-	c.1234G>A	c.(1234-1236)GCC>ACC	p.A412T		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	414											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)													0.227848	75.189896	85.881051	36	122	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	Missense_Mutation	SNP	193999105	193999105	2330	3	C	T	T	27	27	C3orf59	T	1	1
C3orf59	151963	broad.mit.edu	36	3	193999936	193999936	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:193999936C>T	uc003fsz.1	-	c.403G>A	c.(403-405)GAC>AAC	p.D135N		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	137											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)													0.134783	35.042888	64.867038	31	199	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	Missense_Mutation	SNP	193999936	193999936	2330	3	C	T	T	31	31	C3orf59	T	1	1
C3orf59	151963	broad.mit.edu	36	3	194118151	194118151	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:194118151T>G	uc003fsz.1	-	c.167A>C	c.(166-168)GAG>GCG	p.E56A		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	58											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)													0.3125	171.64095	178.186394	65	143	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	Missense_Mutation	SNP	194118151	194118151	2330	3	T	G	G	54	54	C3orf59	G	4	4
HRASLS	57110	broad.mit.edu	36	3	194456197	194456197	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:194456197G>A	uc003fta.1	+	c.64G>A	c.(64-66)GAA>AAA	p.E22K		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	22											0	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)													0.351889	466.3171	476.051583	177	326	GG		KEEP	---	---	---	---	capture	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;0.000159)	Missense_Mutation	SNP	194456197	194456197	7641	3	G	A	A	37	37	HRASLS	A	1	1
ATP13A5	344905	broad.mit.edu	36	3	194475696	194475696	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:194475696C>A	uc003ftc.1	-	c.3486G>T	c.(3484-3486)AAG>AAT	p.K1162N		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1162					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)|large_intestine(2)	7	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)									699				0.517544	489.633007	489.722678	177	165	CC		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	194475696	194475696	1146	3	C	A	A	32	32	ATP13A5	A	3	3
ATP13A5	344905	broad.mit.edu	36	3	194485418	194485418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:194485418G>A	uc003ftc.1	-	c.3205C>T	c.(3205-3207)CGA>TGA	p.R1069*		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1069					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)|large_intestine(2)	7	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)								p.R1069*(COV318-Tumor)	699				0.257576	78.691709	85.721746	34	98	GG		KEEP	---	---	---	---	capture	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)	Nonsense_Mutation	SNP	194485418	194485418	1146	3	G	A	A	37	37	ATP13A5	A	5	1
ATP13A5	344905	broad.mit.edu	36	3	194511137	194511137	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:194511137C>A	uc003ftc.1	-	c.2509G>T	c.(2509-2511)GAA>TAA	p.E837*		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	837					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)|large_intestine(2)	7	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)									699				0.316583	153.533318	159.498305	63	136	CC		KEEP	---	---	---	---	capture	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)	Nonsense_Mutation	SNP	194511137	194511137	1146	3	C	A	A	32	32	ATP13A5	A	5	3
ATP13A4	84239	broad.mit.edu	36	3	194607835	194607835	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:194607835G>T	uc003ftd.1	-	c.3339C>A	c.(3337-3339)ATC>ATA	p.I1113I	ATP13A4_uc010hzi.1_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1113	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(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)													0.476636	142.203614	142.255228	51	56	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	Silent	SNP	194607835	194607835	1145	3	G	T	T	45	45	ATP13A4	T	3	3
ATP13A4	84239	broad.mit.edu	36	3	194642922	194642922	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:194642922G>T	uc003ftd.1	-	c.2270C>A	c.(2269-2271)TCT>TAT	p.S757Y	ATP13A4_uc010hzi.1_Non-coding_Transcript|ATP13A4_uc003fte.1_Missense_Mutation_p.S757Y	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	757	Extracellular (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(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)													0.52349	221.837209	221.907651	78	71	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	Missense_Mutation	SNP	194642922	194642922	1145	3	G	T	T	33	33	ATP13A4	T	3	3
ATP13A4	84239	broad.mit.edu	36	3	194691854	194691854	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:194691854G>A	uc003ftd.1	-	c.561C>T	c.(559-561)ATC>ATT	p.I187I	ATP13A4_uc003fte.1_Silent_p.I187I	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	187	Extracellular (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(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)													0.173375	101.387877	133.939408	56	267	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	Silent	SNP	194691854	194691854	1145	3	G	A	A	37	37	ATP13A4	A	1	1
KCNH8	131096	broad.mit.edu	36	3	19526884	19526884	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:19526884C>A	uc003cbk.1	+	c.2066C>A	c.(2065-2067)TCT>TAT	p.S689Y	KCNH8_uc010hex.1_Missense_Mutation_p.S150Y	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	689	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.314286	54.018818	56.17042	22	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19526884	19526884	8343	3	C	A	A	32	32	KCNH8	A	3	3
HES1	3280	broad.mit.edu	36	3	195337123	195337123	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:195337123A>C	uc003ftq.1	+	c.132A>C	c.(130-132)AAA>AAC	p.K44N		NM_005524	NP_005515	Q14469	HES1_HUMAN	hairy and enhancer of split 1	44	Basic motif.				endocrine pancreas development|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)													0.47561	128.922074	128.964355	39	43	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	Missense_Mutation	SNP	195337123	195337123	7348	3	A	C	C	1	1	HES1	C	4	4
LRRC15	131578	broad.mit.edu	36	3	195561841	195561841	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:195561841G>A	uc003ftt.1	-	c.1227C>T	c.(1225-1227)TTC>TTT	p.F409F	LRRC15_uc003ftu.1_Silent_p.F409F|LRRC15_uc010hzk.1_Silent_p.F409F	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	409	LRR 15.|Extracellular (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)													0.318681	72.439477	75.100405	29	62	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	Silent	SNP	195561841	195561841	9344	3	G	A	A	37	37	LRRC15	A	1	1
LRRC15	131578	broad.mit.edu	36	3	195562719	195562719	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:195562719G>A	uc003ftt.1	-	c.349C>T	c.(349-351)CCC>TCC	p.P117S	LRRC15_uc003ftu.1_Missense_Mutation_p.P117S|LRRC15_uc010hzk.1_Missense_Mutation_p.P117S	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	117	LRR 3.|Extracellular (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)													0.4	190.769915	192.340948	72	108	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	Missense_Mutation	SNP	195562719	195562719	9344	3	G	A	A	42	42	LRRC15	A	2	2
ATP13A3	79572	broad.mit.edu	36	3	195661556	195661556	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:195661556G>A	uc003fty.2	-	c.412C>T	c.(412-414)CGT>TGT	p.R138C		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	138					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)												0.380531	117.892903	119.309242	43	70	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	Missense_Mutation	SNP	195661556	195661556	1144	3	G	A	A	37	37	ATP13A3	A	1	1
LSG1	55341	broad.mit.edu	36	3	195844115	195844115	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:195844115G>A	uc003fui.1	-	c.1948C>T	c.(1948-1950)CGT>TGT	p.R650C		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	650					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)													0.536842	590.288054	590.734446	204	176	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	Missense_Mutation	SNP	195844115	195844115	9425	3	G	A	A	37	37	LSG1	A	1	1
LSG1	55341	broad.mit.edu	36	3	195867603	195867603	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:195867603G>A	uc003fui.1	-	c.493C>T	c.(493-495)CGC>TGC	p.R165C		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	165					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)													0.194175	76.274351	94.260083	40	166	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	Missense_Mutation	SNP	195867603	195867603	9425	3	G	A	A	38	38	LSG1	A	1	1
ACAP2	23527	broad.mit.edu	36	3	196481402	196481402	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196481402C>T	uc003fun.2	-	c.2281G>A	c.(2281-2283)GCA>ACA	p.A761T		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	761					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.155779	50.598735	73.03605	31	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	196481402	196481402	120	3	C	T	T	26	26	ACAP2	T	2	2
PPP1R2	5504	broad.mit.edu	36	3	196727116	196727116	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196727116C>A	uc003fup.1	-	c.559G>T	c.(559-561)GAA>TAA	p.E187*		NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	187					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)													0.305613	353.191226	369.434922	147	334	CC		KEEP	---	---	---	---	capture	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	Nonsense_Mutation	SNP	196727116	196727116	12805	3	C	A	A	32	32	PPP1R2	A	5	3
PPP1R2	5504	broad.mit.edu	36	3	196731782	196731782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196731782G>A	uc003fup.1	-	c.400C>T	c.(400-402)CGA>TGA	p.R134*		NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	134					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)													0.52	150.897722	150.932378	52	48	GG		KEEP	---	---	---	---	capture	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	Nonsense_Mutation	SNP	196731782	196731782	12805	3	G	A	A	40	40	PPP1R2	A	5	1
MUC20	200958	broad.mit.edu	36	3	196938759	196938759	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196938759T>C	uc010hzo.1	+	c.1101T>C	c.(1099-1101)GTT>GTC	p.V367V	MUC20_uc010hzp.1_Silent_p.V332V	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	538	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)												0.142857	32.258584	48.588051	19	114	TT		KEEP	---	---	---	---	capture	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	Silent	SNP	196938759	196938759	10370	3	T	C	C	63	63	MUC20	C	4	4
MUC20	200958	broad.mit.edu	36	3	196938980	196938980	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196938980C>A	uc010hzo.1	+	c.1322C>A	c.(1321-1323)CCG>CAG	p.P441Q	MUC20_uc010hzp.1_Missense_Mutation_p.P406Q	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	612	Involved in oligomerization.|Thr-rich.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)												0.302198	137.719272	144.041981	55	127	CC		KEEP	---	---	---	---	capture	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	Missense_Mutation	SNP	196938980	196938980	10370	3	C	A	A	23	23	MUC20	A	3	3
MUC4	4585	broad.mit.edu	36	3	196984271	196984271	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196984271G>T	uc010hzt.1	-	c.12744C>A	c.(12742-12744)TTC>TTA	p.F4248L	MUC4_uc003fvo.1_Missense_Mutation_p.F140L|MUC4_uc003fvp.1_Missense_Mutation_p.F89L|MUC4_uc010hzu.1_Missense_Mutation_p.F988L|MUC4_uc003fuz.1_Missense_Mutation_p.S56Y|MUC4_uc003fva.1_Intron|MUC4_uc003fvb.1_Intron|MUC4_uc003fvd.1_Non-coding_Transcript|MUC4_uc003fve.1_5'UTR|MUC4_uc003fvc.1_Intron|MUC4_uc010hzr.1_Non-coding_Transcript|MUC4_uc003fvm.1_5'UTR|MUC4_uc003fvg.1_5'UTR|MUC4_uc003fvf.1_Non-coding_Transcript|MUC4_uc003fvh.1_Intron|MUC4_uc010hzs.1_Missense_Mutation_p.F117L|MUC4_uc003fvi.1_5'UTR|MUC4_uc003fvj.1_Intron|MUC4_uc003fvk.1_Missense_Mutation_p.F117L|MUC4_uc003fvl.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1133					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)												0.357143	109.723033	111.994792	45	81	GG		KEEP	---	---	---	---	capture	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	Missense_Mutation	SNP	196984271	196984271	10372	3	G	T	T	33	33	MUC4	T	3	3
MUC4	4585	broad.mit.edu	36	3	196990468	196990468	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196990468C>A	uc010hzt.1	-	c.12378G>T	c.(12376-12378)TCG>TCT	p.S4126S	MUC4_uc003fvo.1_Intron|MUC4_uc003fvp.1_Intron|MUC4_uc010hzu.1_Silent_p.S866S|MUC4_uc003fva.1_5'UTR|MUC4_uc003fvb.1_5'UTR|MUC4_uc003fvd.1_Non-coding_Transcript|MUC4_uc003fve.1_5'UTR|MUC4_uc003fvc.1_Non-coding_Transcript|MUC4_uc010hzr.1_Non-coding_Transcript|MUC4_uc003fvm.1_5'UTR|MUC4_uc003fvg.1_5'UTR|MUC4_uc003fvf.1_Non-coding_Transcript|MUC4_uc003fvh.1_5'UTR|MUC4_uc010hzs.1_5'UTR|MUC4_uc003fvi.1_5'UTR|MUC4_uc003fvj.1_5'UTR|MUC4_uc003fvk.1_5'UTR|MUC4_uc003fvl.1_5'UTR	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1011	Ser-rich.|Repeat.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)												0.132075	9.597842	16.560562	7	46	CC		KEEP	---	---	---	---	capture	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	Silent	SNP	196990468	196990468	10372	3	C	A	A	23	23	MUC4	A	3	3
MUC4	4585	broad.mit.edu	36	3	197001859	197001859	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197001859G>A	uc010hzt.1	-	c.987C>T	c.(985-987)AGC>AGT	p.S329S	MUC4_uc003fvo.1_Intron|MUC4_uc003fvp.1_Intron|MUC4_uc010hzu.1_Silent_p.S211S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	334					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)												0.347594	330.532715	338.202108	130	244	GG		KEEP	---	---	---	---	capture	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	Silent	SNP	197001859	197001859	10372	3	G	A	A	38	38	MUC4	A	1	1
MUC4	4585	broad.mit.edu	36	3	197002690	197002690	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197002690C>T	uc010hzt.1	-	c.156G>A	c.(154-156)GCG>GCA	p.A52A	MUC4_uc003fvo.1_Intron|MUC4_uc003fvp.1_Intron|MUC4_uc010hzu.1_5'Flank	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	52					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)												0.450777	741.001192	742.220388	261	318	CC		KEEP	---	---	---	---	capture	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	Silent	SNP	197002690	197002690	10372	3	C	T	T	31	31	MUC4	T	1	1
TNK2	10188	broad.mit.edu	36	3	197090353	197090353	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197090353G>A	uc003fvt.1	-	c.1167C>T	c.(1165-1167)TAC>TAT	p.Y389Y	TNK2_uc003fvs.1_Silent_p.Y358Y|TNK2_uc003fvu.1_Silent_p.Y326Y|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Silent_p.Y156Y|TNK2_uc010hzx.1_3'UTR	NM_001010938	NP_001010938	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 2	326	Protein kinase.			TRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKID KEGERLPR -> PPWRDISASSSTQFPHAVPCFPTSLLAKL LLRHSVPASSREIKLVSILC (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein 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)			Adenosine triphosphate(DB00171)					288				0.479412	447.67569	447.801475	163	177	GG		KEEP	---	---	---	---	capture	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)	Silent	SNP	197090353	197090353	16859	3	G	A	A	40	40	TNK2	A	1	1
TNK2	10188	broad.mit.edu	36	3	197099812	197099812	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197099812G>A	uc003fvt.1	-	c.234C>T	c.(232-234)TCC>TCT	p.S78S	TNK2_uc003fvs.1_Silent_p.S47S|TNK2_uc003fvu.1_Silent_p.S15S|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Silent_p.S29S	NM_001010938	NP_001010938	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 2	15	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein 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)			Adenosine triphosphate(DB00171)					288				0.186667	26.707008	33.605688	14	61	GG		KEEP	---	---	---	---	capture	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)	Silent	SNP	197099812	197099812	16859	3	G	A	A	39	39	TNK2	A	1	1
TFRC	7037	broad.mit.edu	36	3	197263274	197263274	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197263274C>A	uc003fvz.2	-	c.2219G>T	c.(2218-2220)TGG>TTG	p.W740L	TFRC_uc003fwa.2_Missense_Mutation_p.W740L|TFRC_uc010hzy.1_Missense_Mutation_p.W659L	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	740	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)									680				0.177665	64.493617	83.782061	35	162	CC		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	197263274	197263274	16340	3	C	A	A	21	21	TFRC	A	3	3
ZDHHC19	131540	broad.mit.edu	36	3	197409659	197409659	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197409659C>T	uc003fwc.1	-	c.834G>A	c.(832-834)CCG>CCA	p.P278P	ZDHHC19_uc010hzz.1_Non-coding_Transcript|ZDHHC19_uc010iaa.1_Non-coding_Transcript|ZDHHC19_uc010iab.1_Intron	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	278						integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)													0.362637	82.373706	83.874139	33	58	CC		KEEP	---	---	---	---	capture	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	Silent	SNP	197409659	197409659	18197	3	C	T	T	31	31	ZDHHC19	T	1	1
WDR53	348793	broad.mit.edu	36	3	197765583	197765583	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197765583C>A	uc003fwt.1	-	c.973G>T	c.(973-975)GAA>TAA	p.E325*		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	325										breast(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)													0.205479	173.664399	208.945855	90	348	CC		KEEP	---	---	---	---	capture	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	Nonsense_Mutation	SNP	197765583	197765583	17878	3	C	A	A	32	32	WDR53	A	5	3
LRRC33	375387	broad.mit.edu	36	3	197872057	197872057	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197872057C>T	uc003fwv.1	+	c.1146C>T	c.(1144-1146)GAC>GAT	p.D382D		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33	382	Extracellular (Potential).|LRR 13.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)													0.240741	140.122941	156.701447	65	205	CC		KEEP	---	---	---	---	capture	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	Silent	SNP	197872057	197872057	9363	3	C	T	T	18	18	LRRC33	T	2	2
MFI2	4241	broad.mit.edu	36	3	198234360	198234360	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:198234360C>T	uc003fxk.2	-	c.509G>A	c.(508-510)GGC>GAC	p.G170D	MFI2_uc003fxl.2_Missense_Mutation_p.G170D	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	170	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)													0.26738	121.925471	131.027683	50	137	CC		KEEP	---	---	---	---	capture	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	Missense_Mutation	SNP	198234360	198234360	9912	3	C	T	T	26	26	MFI2	T	2	2
DLG1	1739	broad.mit.edu	36	3	198330795	198330795	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:198330795G>T	uc003fxn.2	-	c.1268C>A	c.(1267-1269)TCT>TAT	p.S423Y	DLG1_uc003fxm.2_Missense_Mutation_p.S106Y|DLG1_uc003fxo.2_Missense_Mutation_p.S423Y|DLG1_uc010ial.1_Missense_Mutation_p.S423Y|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.S390Y|DLG1_uc010ian.1_Missense_Mutation_p.S106Y	NM_004087	NP_004078	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 2	423					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)												0.441441	128.043753	128.37772	49	62	GG		KEEP	---	---	---	---	capture	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	Missense_Mutation	SNP	198330795	198330795	4734	3	G	T	T	33	33	DLG1	T	3	3
KIAA0226	9711	broad.mit.edu	36	3	198914828	198914828	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:198914828G>A	uc003fyc.2	-	c.558C>T	c.(556-558)ATC>ATT	p.I186I	KIAA0226_uc003fyd.2_Silent_p.I126I|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.1_Silent_p.I19I|KIAA0226_uc003fyg.1_Silent_p.I179I	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711	186	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)					Esophageal Squamous(3;167 355 3763 15924)								0.26	59.812559	65.023826	26	74	GG		KEEP	---	---	---	---	capture	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	Silent	SNP	198914828	198914828	8469	3	G	A	A	37	37	KIAA0226	A	1	1
EFHB	151651	broad.mit.edu	36	3	19896145	19896145	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:19896145C>A	uc003cbl.2	-	c.2484G>T	c.(2482-2484)AAG>AAT	p.K828N	EFHB_uc003cbm.1_Missense_Mutation_p.K698N	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	828					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0														0.217899	130.854279	149.71302	56	201	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19896145	19896145	5133	3	C	A	A	20	20	EFHB	A	3	3
FYTTD1	84248	broad.mit.edu	36	3	198967697	198967697	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:198967697A>C	uc003fyi.1	+	c.107A>C	c.(106-108)GAT>GCT	p.D36A	FYTTD1_uc003fyh.1_5'UTR	NM_032288	NP_001011537	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1 isoform 1	36	UAP56-binding motif.				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)												0.168142	41.957775	53.741707	19	94	AA		KEEP	---	---	---	---	capture	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	Missense_Mutation	SNP	198967697	198967697	6378	3	A	C	C	12	12	FYTTD1	C	4	4
IQCG	84223	broad.mit.edu	36	3	199103942	199103942	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:199103942G>T	uc003fyo.1	-	c.1049C>A	c.(1048-1050)GCC>GAC	p.A350D	IQCG_uc003fym.1_Missense_Mutation_p.A51D|IQCG_uc003fyn.1_Missense_Mutation_p.A252D|IQCG_uc003fyp.1_Missense_Mutation_p.A350D	NM_032263	NP_115639	Q9H095	IQCG_HUMAN	IQ motif containing G	350											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)													0.328149	558.390247	575.236478	211	432	GG		KEEP	---	---	---	---	capture	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	Missense_Mutation	SNP	199103942	199103942	8113	3	G	T	T	42	42	IQCG	T	3	3
RPL35A	6165	broad.mit.edu	36	3	199162533	199162533	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:199162533G>A	uc003fyr.1	+	c.118G>A	c.(118-120)GAA>AAA	p.E40K	IQCG_uc003fyo.1_5'Flank|IQCG_uc003fyp.1_Intron|IQCG_uc003fyq.2_5'Flank|RPL35A_uc003fys.1_Missense_Mutation_p.E40K	NM_000996	NP_000987	P18077	RL35A_HUMAN	ribosomal protein L35a	40					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome|tRNA binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)												0.170213	77.854254	102.034383	40	195	GG		KEEP	---	---	---	---	capture	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)	Missense_Mutation	SNP	199162533	199162533	14064	3	G	A	A	33	33	RPL35A	A	2	2
LMLN	89782	broad.mit.edu	36	3	199235959	199235959	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:199235959G>T	uc010iar.1	+	c.1670G>T	c.(1669-1671)GGA>GTA	p.G557V	LMLN_uc003fyt.1_Missense_Mutation_p.G505V|LMLN_uc003fyu.1_Missense_Mutation_p.G317V|LMLN_uc010ias.1_Missense_Mutation_p.G468V|LMLN_uc003fyv.1_Missense_Mutation_p.G520V	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	520					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)												0.344697	227.271959	232.882551	91	173	GG		KEEP	---	---	---	---	capture	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	Missense_Mutation	SNP	199235959	199235959	9176	3	G	T	T	41	41	LMLN	T	3	3
LMLN	89782	broad.mit.edu	36	3	199247119	199247119	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:199247119G>T	uc010iar.1	+	c.1786G>T	c.(1786-1788)GGT>TGT	p.G596C	LMLN_uc003fyt.1_Missense_Mutation_p.G544C|LMLN_uc003fyu.1_Missense_Mutation_p.G356C|LMLN_uc010ias.1_Missense_Mutation_p.G507C|LMLN_uc003fyv.1_Missense_Mutation_p.G559C	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	559					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)												0.16609	78.095315	108.685812	48	241	GG		KEEP	---	---	---	---	capture	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	Missense_Mutation	SNP	199247119	199247119	9176	3	G	T	T	35	35	LMLN	T	3	3
EFHB	151651	broad.mit.edu	36	3	19950324	19950324	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:19950324A>C	uc003cbl.2	-	c.191T>G	c.(190-192)TTT>TGT	p.F64C	EFHB_uc003cbm.1_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	64					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0														0.296089	161.578335	168.193291	53	126	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19950324	19950324	5133	3	A	C	C	1	1	EFHB	C	4	4
EFHB	151651	broad.mit.edu	36	3	19950436	19950436	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:19950436G>A	uc003cbl.2	-	c.79C>T	c.(79-81)CCC>TCC	p.P27S	EFHB_uc003cbm.1_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	27					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0														0.591549	125.954818	126.473304	42	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19950436	19950436	5133	3	G	A	A	41	41	EFHB	A	2	2
KAT2B	8850	broad.mit.edu	36	3	20139235	20139235	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:20139235C>T	uc003cbq.1	+	c.1348C>T	c.(1348-1350)CCG>TCG	p.P450S		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	450					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.280899	61.045824	64.881284	25	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20139235	20139235	8286	3	C	T	T	30	30	KAT2B	T	2	2
UBE2E2	7325	broad.mit.edu	36	3	23233789	23233789	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:23233789A>G	uc003ccg.1	+	c.209A>G	c.(208-210)GAC>GGC	p.D70G	UBE2E2_uc010hfc.1_Non-coding_Transcript	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2 (UBC4/5	70					ISG15-protein conjugation|post-translational protein modification|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity				0						GBM(85;1941 2083 9456)								0.210937	72.263655	82.147456	27	101	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23233789	23233789	17410	3	A	G	G	10	10	UBE2E2	G	4	4
THRB	7068	broad.mit.edu	36	3	24206612	24206612	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:24206612G>T	uc003ccx.2	-	c.240C>A	c.(238-240)GTC>GTA	p.V80V	THRB_uc010hfe.1_Silent_p.V80V|THRB_uc003ccy.2_Silent_p.V80V|THRB_uc003ccz.2_Silent_p.V75V|THRB_uc003cdc.2_Silent_p.V75V|THRB_uc003cdd.2_Silent_p.V75V|THRB_uc003cde.1_Silent_p.V75V	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	80	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	Melanoma(21;896 1043 15021 37958)								0.276151	148.32256	159.122138	66	173	GG		KEEP	---	---	---	---	capture			Silent	SNP	24206612	24206612	16403	3	G	T	T	33	33	THRB	T	3	3
OXSM	54995	broad.mit.edu	36	3	25810609	25810609	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:25810609G>T	uc003cdn.1	+	c.1000G>T	c.(1000-1002)GAT>TAT	p.D334Y	OXSM_uc010hfh.1_Missense_Mutation_p.D251Y	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	334					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2														0.303371	61.729168	64.78029	27	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25810609	25810609	11748	3	G	T	T	33	33	OXSM	T	3	3
LRRC3B	116135	broad.mit.edu	36	3	26726614	26726614	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:26726614C>T	uc003cdp.1	+	c.447C>T	c.(445-447)TGC>TGT	p.C149C	LRRC3B_uc003cdq.1_Silent_p.C149C|LRRC3B_uc010hfi.1_Silent_p.C149C	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	149	LRRCT.					integral to membrane				pancreas(2)|ovary(1)	3														0.359375	57.288039	58.367557	23	41	CC		KEEP	---	---	---	---	capture			Silent	SNP	26726614	26726614	9371	3	C	T	T	27	27	LRRC3B	T	1	1
NEK10	152110	broad.mit.edu	36	3	27158016	27158016	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:27158016C>A	uc010hfk.1	-	c.1038G>T	c.(1036-1038)CAG>CAT	p.Q346H	NEK10_uc010hfj.1_Missense_Mutation_p.Q289H|NEK10_uc003cdr.1_Missense_Mutation_p.Q336H	NM_001031741	NP_001026911	Q6ZWH5	NEK10_HUMAN	cDNA FLJ32685 fis, clone TESTI2000154, weakly similar to PUTATIVE SERINE/THREONINE-PROTEIN KINASE D1044.3 IN CHROMOSOME III (EC 2.7.1.-) (NIMA (Never in mitosis gene a)-related kinase 10, isoform CRA_a).	1034					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	11										332				0.242604	88.878264	99.098473	41	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27158016	27158016	10721	3	C	A	A	32	32	NEK10	A	3	3
NEK10	152110	broad.mit.edu	36	3	27208676	27208676	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:27208676C>A	uc010hfk.1	-	c.289G>T	c.(289-291)GAT>TAT	p.D97Y	NEK10_uc003cds.1_Missense_Mutation_p.D182Y|NEK10_uc010hfj.1_Missense_Mutation_p.D97Y|NEK10_uc003cdr.1_Missense_Mutation_p.D97Y	NM_001031741	NP_001026911	Q6ZWH5	NEK10_HUMAN	cDNA FLJ32685 fis, clone TESTI2000154, weakly similar to PUTATIVE SERINE/THREONINE-PROTEIN KINASE D1044.3 IN CHROMOSOME III (EC 2.7.1.-) (NIMA (Never in mitosis gene a)-related kinase 10, isoform CRA_a).	785					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	11										332				0.273504	73.338764	78.754709	32	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27208676	27208676	10721	3	C	A	A	32	32	NEK10	A	3	3
NEK10	152110	broad.mit.edu	36	3	27325473	27325473	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:27325473C>A	uc003cdt.1	-	c.664G>T	c.(664-666)GAT>TAT	p.D222Y				Q6ZWH5	NEK10_HUMAN	Serine/threonine-protein kinase Nek10 (EC 2.7.11.1) (NimA-related protein kinase 10).	222	ARM.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	11										332				0.25	27.073242	29.803247	12	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27325473	27325473	10721	3	C	A	A	32	32	NEK10	A	3	3
SLC4A7	9497	broad.mit.edu	36	3	27421348	27421348	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:27421348T>G	uc003cdv.1	-	c.2025A>C	c.(2023-2025)GAA>GAC	p.E675D	SLC4A7_uc010hfl.1_Missense_Mutation_p.E225D|SLC4A7_uc003cdw.1_Missense_Mutation_p.E551D|SLC4A7_uc003cdu.2_Missense_Mutation_p.E556D	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	675	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)	4														0.326531	103.072944	105.68537	32	66	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27421348	27421348	15155	3	T	G	G	64	64	SLC4A7	G	4	4
EOMES	8320	broad.mit.edu	36	3	27734216	27734216	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:27734216G>A	uc003cdy.2	-	c.1467C>T	c.(1465-1467)TAC>TAT	p.Y489Y	EOMES_uc003cdx.1_Silent_p.Y470Y|EOMES_uc010hfn.1_3'UTR	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	470					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(3)|breast(1)	4														0.311258	108.333819	113.146178	47	104	GG		KEEP	---	---	---	---	capture			Silent	SNP	27734216	27734216	5340	3	G	A	A	40	40	EOMES	A	1	1
AZI2	64343	broad.mit.edu	36	3	28343412	28343412	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:28343412C>A	uc003ceb.1	-	c.681G>T	c.(679-681)AAG>AAT	p.K227N	AZI2_uc003cec.1_Missense_Mutation_p.K115N|AZI2_uc003ced.1_Missense_Mutation_p.K227N|AZI2_uc003cee.2_Missense_Mutation_p.K227N	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	227	Interaction with TBK1.					mitochondrion|plasma membrane				ovary(2)	2														0.150442	24.592776	37.836657	17	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28343412	28343412	1262	3	C	A	A	32	32	AZI2	A	3	3
AZI2	64343	broad.mit.edu	36	3	28353290	28353290	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:28353290T>A	uc003ceb.1	-	c.530A>T	c.(529-531)GAA>GTA	p.E177V	AZI2_uc003cec.1_Missense_Mutation_p.E65V|AZI2_uc003ced.1_Missense_Mutation_p.E177V|AZI2_uc003cee.2_Missense_Mutation_p.E177V|AZI2_uc003cef.1_Missense_Mutation_p.E177V|AZI2_uc003ceg.1_Missense_Mutation_p.E177V	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	177	Potential.|Interaction with TBK1.					mitochondrion|plasma membrane				ovary(2)	2														0.291457	135.06132	142.820194	58	141	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28353290	28353290	1262	3	T	A	A	62	62	AZI2	A	4	4
ZCWPW2	152098	broad.mit.edu	36	3	28530611	28530611	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:28530611G>T	uc003ceh.1	+	c.710G>T	c.(709-711)AGG>ATG	p.R237M	ZCWPW2_uc003cei.1_Missense_Mutation_p.R237M|ZCWPW2_uc010hfo.1_Missense_Mutation_p.R42M	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	237							zinc ion binding			ovary(2)	2														0.303571	42.796204	44.70134	17	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28530611	28530611	18186	3	G	T	T	35	35	ZCWPW2	T	3	3
RBMS3	27303	broad.mit.edu	36	3	29779413	29779413	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:29779413C>A	uc003cel.1	+	c.566C>A	c.(565-567)TCT>TAT	p.S189Y	RBMS3_uc003cek.1_Missense_Mutation_p.S189Y|RBMS3_uc010hfq.1_Missense_Mutation_p.S189Y|RBMS3_uc003cem.1_Missense_Mutation_p.S188Y|RBMS3_uc010hfr.1_Missense_Mutation_p.S189Y	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	189	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)												0.272727	39.31326	42.391976	18	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29779413	29779413	13612	3	C	A	A	32	32	RBMS3	A	3	3
RBMS3	27303	broad.mit.edu	36	3	29900698	29900698	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:29900698G>T	uc003cel.1	+	c.786G>T	c.(784-786)CAG>CAT	p.Q262H	RBMS3_uc003cek.1_Missense_Mutation_p.Q262H|RBMS3_uc010hfq.1_Missense_Mutation_p.Q275H|RBMS3_uc003cem.1_Missense_Mutation_p.Q261H|RBMS3_uc010hfr.1_Missense_Mutation_p.Q262H	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	262						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)												0.208054	58.728236	70.507762	31	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29900698	29900698	13612	3	G	T	T	33	33	RBMS3	T	3	3
CNTN4	152330	broad.mit.edu	36	3	3059089	3059089	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:3059089C>T	uc003bpc.1	+	c.2494C>T	c.(2494-2496)CGA>TGA	p.R832*	CNTN4_uc003bpb.1_Nonsense_Mutation_p.R503*|CNTN4_uc003bpe.1_Nonsense_Mutation_p.R504*|CNTN4_uc003bpf.1_Nonsense_Mutation_p.R503*|CNTN4_uc003bpg.1_Nonsense_Mutation_p.R88*	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	832	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)												0.202128	37.775759	45.523147	19	75	CC		KEEP	---	---	---	---	capture		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	Nonsense_Mutation	SNP	3059089	3059089	3781	3	C	T	T	19	19	CNTN4	T	5	1
TGFBR2	7048	broad.mit.edu	36	3	30688319	30688319	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:30688319G>A	uc003cen.1	+	c.715G>A	c.(715-717)GAG>AAG	p.E239K	TGFBR2_uc010hfs.1_Missense_Mutation_p.E92K|TGFBR2_uc003ceo.1_Missense_Mutation_p.E214K	NM_001024847	NP_001020018	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	214	Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane|transforming growth factor beta receptor complex	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(3)|ovary(3)|lung(2)|central_nervous_system(1)	24										132				0.434211	89.856278	90.144033	33	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30688319	30688319	16350	3	G	A	A	37	37	TGFBR2	A	1	1
TGFBR2	7048	broad.mit.edu	36	3	30688565	30688565	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:30688565G>T	uc003cen.1	+	c.961G>T	c.(961-963)GAC>TAC	p.D321Y	TGFBR2_uc010hfs.1_Missense_Mutation_p.D174Y|TGFBR2_uc003ceo.1_Missense_Mutation_p.D296Y	NM_001024847	NP_001020018	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	296	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane|transforming growth factor beta receptor complex	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(3)|ovary(3)|lung(2)|central_nervous_system(1)	24										132				0.462025	196.33856	196.538848	73	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30688565	30688565	16350	3	G	T	T	33	33	TGFBR2	T	3	3
TGFBR2	7048	broad.mit.edu	36	3	30688847	30688847	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:30688847G>A	uc003cen.1	+	c.1243G>A	c.(1243-1245)GAC>AAC	p.D415N	TGFBR2_uc010hfs.1_Missense_Mutation_p.D268N|TGFBR2_uc003ceo.1_Missense_Mutation_p.D390N	NM_001024847	NP_001020018	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	390	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane|transforming growth factor beta receptor complex	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(3)|ovary(3)|lung(2)|central_nervous_system(1)	24										132				0.240185	227.598234	254.275812	104	329	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30688847	30688847	16350	3	G	A	A	37	37	TGFBR2	A	1	1
IL5RA	3568	broad.mit.edu	36	3	3114680	3114680	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:3114680C>T	uc003bph.1	-	c.583G>A	c.(583-585)GCA>ACA	p.A195T	IL5RA_uc010hbq.1_Missense_Mutation_p.A195T|IL5RA_uc010hbr.1_Intron|IL5RA_uc010hbs.1_Missense_Mutation_p.A195T|IL5RA_uc003bpi.1_Missense_Mutation_p.A195T|IL5RA_uc010hbt.1_Missense_Mutation_p.A195T|IL5RA_uc003bpj.1_Missense_Mutation_p.A195T|IL5RA_uc010hbu.1_Missense_Mutation_p.A195T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	195	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1						GBM(169;430 2801 24955 28528)								0.20765	75.943148	90.440628	38	145	CC		KEEP	---	---	---	---	capture		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	Missense_Mutation	SNP	3114680	3114680	8001	3	C	T	T	27	27	IL5RA	T	1	1
TRNT1	51095	broad.mit.edu	36	3	3157326	3157326	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:3157326T>C	uc003bpp.2	+	c.475T>C	c.(475-477)TTT>CTT	p.F159L	TRNT1_uc010hbv.1_Missense_Mutation_p.F159L|TRNT1_uc003bpm.2_Non-coding_Transcript	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	159					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding				0														0.5	174.586638	174.586638	49	49	TT		KEEP	---	---	---	---	capture		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	Missense_Mutation	SNP	3157326	3157326	17124	3	T	C	C	60	60	TRNT1	C	4	4
CMTM6	54918	broad.mit.edu	36	3	32504446	32504446	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:32504446C>T	uc003cfa.1	-	c.402G>A	c.(400-402)GAG>GAA	p.E134E		NM_017801	NP_060271	Q9NX76	CKLF6_HUMAN	CKLF-like MARVEL transmembrane domain containing	134	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0														0.25	31.647827	34.603697	13	39	CC		KEEP	---	---	---	---	capture			Silent	SNP	32504446	32504446	3725	3	C	T	T	32	32	CMTM6	T	2	2
DYNC1LI1	51143	broad.mit.edu	36	3	32545078	32545078	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:32545078G>A	uc003cfb.2	-	c.1326C>T	c.(1324-1326)GGC>GGT	p.G442G		NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	442					cell division|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1														0.260417	55.458371	60.431457	25	71	GG		KEEP	---	---	---	---	capture			Silent	SNP	32545078	32545078	5030	3	G	A	A	38	38	DYNC1LI1	A	1	1
GLB1	2720	broad.mit.edu	36	3	33013624	33013624	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:33013624C>T	uc003cfi.1	-	c.1951G>A	c.(1951-1953)GAT>AAT	p.D651N	GLB1_uc003cfh.1_Missense_Mutation_p.D621N|GLB1_uc003cfj.1_Missense_Mutation_p.D520N	NM_000404	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	651					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)												0.584821	379.611044	381.013589	131	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33013624	33013624	6695	3	C	T	T	31	31	GLB1	T	1	1
CLASP2	23122	broad.mit.edu	36	3	33598335	33598335	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:33598335G>A	uc003cfu.1	-	c.2329C>T	c.(2329-2331)CGC>TGC	p.R777C	CLASP2_uc003cft.1_Non-coding_Transcript|CLASP2_uc010hgb.1_Non-coding_Transcript	NM_015097	NP_055912	O75122	CLAP2_HUMAN	CLIP-associating protein 2	544	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|microtubule anchoring|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	cell cortex|condensed chromosome kinetochore|cytoplasmic microtubule|cytosol|kinetochore microtubule|microtubule organizing center|trans-Golgi network	galactoside 2-alpha-L-fucosyltransferase activity|microtubule plus-end binding			ovary(3)|central_nervous_system(1)	4														0.5	72.071801	72.071801	25	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33598335	33598335	3591	3	G	A	A	37	37	CLASP2	A	1	1
CLASP2	23122	broad.mit.edu	36	3	33713357	33713357	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:33713357C>T	uc003cfu.1	-	c.268G>A	c.(268-270)GCA>ACA	p.A90T	CLASP2_uc010hgb.1_Non-coding_Transcript	NM_015097	NP_055912	O75122	CLAP2_HUMAN	CLIP-associating protein 2	1142	Required for cortical localization.|Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|microtubule anchoring|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	cell cortex|condensed chromosome kinetochore|cytoplasmic microtubule|cytosol|kinetochore microtubule|microtubule organizing center|trans-Golgi network	galactoside 2-alpha-L-fucosyltransferase activity|microtubule plus-end binding			ovary(3)|central_nervous_system(1)	4														0.666667	37.904435	38.346712	12	6	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33713357	33713357	3591	3	C	T	T	28	28	CLASP2	T	2	2
STAC	6769	broad.mit.edu	36	3	36522246	36522246	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:36522246C>T	uc003cgh.1	+	c.836C>T	c.(835-837)TCT>TTT	p.S279F	STAC_uc010hgd.1_Non-coding_Transcript	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	279					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			ovary(1)|pancreas(1)	2														0.235294	46.15253	51.603199	20	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36522246	36522246	15757	3	C	T	T	32	32	STAC	T	2	2
DCLK3	85443	broad.mit.edu	36	3	36753742	36753742	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:36753742C>A	uc003cgi.2	-	c.1413G>T	c.(1411-1413)AAG>AAT	p.K471N		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	471	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|ovary(1)|breast(1)|kidney(1)	8										128				0.383333	56.101736	56.820596	23	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36753742	36753742	4464	3	C	A	A	32	32	DCLK3	A	3	3
TRANK1	9881	broad.mit.edu	36	3	36849434	36849434	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:36849434C>T	uc003cgj.2	-	c.4862G>A	c.(4861-4863)CGT>CAT	p.R1621H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2171					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2														0.644444	86.182417	87.009539	29	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36849434	36849434	16998	3	C	T	T	19	19	TRANK1	T	1	1
EPM2AIP1	9852	broad.mit.edu	36	3	37008951	37008951	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:37008951G>T	uc003cgk.1	-	c.622C>A	c.(622-624)CTT>ATT	p.L208I	MLH1_uc003cgl.1_5'Flank|MLH1_uc010hge.1_5'Flank|MLH1_uc010hgf.1_5'Flank|MLH1_uc003cgn.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	208						endoplasmic reticulum					0														0.324675	118.184829	122.392317	50	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37008951	37008951	5377	3	G	T	T	33	33	EPM2AIP1	T	3	3
GOLGA4	2803	broad.mit.edu	36	3	37312601	37312601	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:37312601G>A	uc003cgw.1	+	c.767G>A	c.(766-768)CGA>CAA	p.R256Q	GOLGA4_uc003cgv.1_Missense_Mutation_p.R234Q|GOLGA4_uc010hgs.1_Intron|GOLGA4_uc003cgx.1_Missense_Mutation_p.R115Q|GOLGA4_uc010hgr.1_Intron	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	234	Potential.				vesicle-mediated transport	Golgi membrane|trans-Golgi network				ovary(2)|breast(1)|central_nervous_system(1)	4														0.514768	358.243102	358.287763	122	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37312601	37312601	6824	3	G	A	A	37	37	GOLGA4	A	1	1
GOLGA4	2803	broad.mit.edu	36	3	37341496	37341496	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:37341496G>A	uc003cgw.1	+	c.3181G>A	c.(3181-3183)GAA>AAA	p.E1061K	GOLGA4_uc003cgv.1_Missense_Mutation_p.E1039K|GOLGA4_uc010hgs.1_Intron|GOLGA4_uc003cgx.1_Missense_Mutation_p.E920K|GOLGA4_uc010hgr.1_Missense_Mutation_p.E600K	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1039	Potential.|Glu-rich.				vesicle-mediated transport	Golgi membrane|trans-Golgi network				ovary(2)|breast(1)|central_nervous_system(1)	4														0.315789	64.868865	67.164838	24	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37341496	37341496	6824	3	G	A	A	33	33	GOLGA4	A	2	2
GOLGA4	2803	broad.mit.edu	36	3	37342288	37342288	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:37342288G>T	uc003cgw.1	+	c.3973G>T	c.(3973-3975)GAA>TAA	p.E1325*	GOLGA4_uc003cgv.1_Nonsense_Mutation_p.E1303*|GOLGA4_uc010hgs.1_Intron|GOLGA4_uc003cgx.1_Nonsense_Mutation_p.E1184*|GOLGA4_uc010hgr.1_Nonsense_Mutation_p.E864*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1303	Potential.|Glu-rich.				vesicle-mediated transport	Golgi membrane|trans-Golgi network				ovary(2)|breast(1)|central_nervous_system(1)	4														0.171875	16.979518	23.499854	11	53	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	37342288	37342288	6824	3	G	T	T	33	33	GOLGA4	T	5	3
GOLGA4	2803	broad.mit.edu	36	3	37342707	37342707	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:37342707C>A	uc003cgw.1	+	c.4392C>A	c.(4390-4392)TTC>TTA	p.F1464L	GOLGA4_uc003cgv.1_Missense_Mutation_p.F1442L|GOLGA4_uc010hgs.1_Intron|GOLGA4_uc003cgx.1_Missense_Mutation_p.F1323L|GOLGA4_uc010hgr.1_Missense_Mutation_p.F1003L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1442	Potential.|Glu-rich.				vesicle-mediated transport	Golgi membrane|trans-Golgi network				ovary(2)|breast(1)|central_nervous_system(1)	4														0.257384	137.345034	150.005065	61	176	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37342707	37342707	6824	3	C	A	A	32	32	GOLGA4	A	3	3
ITGA9	3680	broad.mit.edu	36	3	37753461	37753461	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:37753461C>T	uc003chd.1	+	c.2217C>T	c.(2215-2217)TTC>TTT	p.F739F		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	739	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|lung(1)|pancreas(1)	5														0.290323	62.675463	66.347411	27	66	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	Silent	SNP	37753461	37753461	8187	3	C	T	T	29	29	ITGA9	T	2	2
ITGA9	3680	broad.mit.edu	36	3	37767040	37767040	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:37767040G>T	uc003chd.1	+	c.2517G>T	c.(2515-2517)GAG>GAT	p.E839D		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	839	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|lung(1)|pancreas(1)	5														0.527174	270.452948	270.569215	97	87	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	Missense_Mutation	SNP	37767040	37767040	8187	3	G	T	T	33	33	ITGA9	T	3	3
DLEC1	9940	broad.mit.edu	36	3	38100698	38100698	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38100698C>T	uc003chp.1	+	c.1219C>T	c.(1219-1221)CGA>TGA	p.R407*	DLEC1_uc003cho.1_Nonsense_Mutation_p.R407*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.R407*|DLEC1_uc010hgw.1_Nonsense_Mutation_p.R106*|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	407					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|breast(1)|skin(1)	8														0.217877	78.849337	91.97339	39	140	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	Nonsense_Mutation	SNP	38100698	38100698	4732	3	C	T	T	27	27	DLEC1	T	5	1
DLEC1	9940	broad.mit.edu	36	3	38116816	38116816	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38116816G>A	uc003chp.1	+	c.2760G>A	c.(2758-2760)CAG>CAA	p.Q920Q	DLEC1_uc003cho.1_Silent_p.Q920Q|DLEC1_uc010hgv.1_Silent_p.Q920Q|DLEC1_uc003chr.1_Silent_p.Q26Q|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	920					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|breast(1)|skin(1)	8														0.54375	504.68155	505.207188	174	146	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	Silent	SNP	38116816	38116816	4732	3	G	A	A	34	34	DLEC1	A	2	2
DLEC1	9940	broad.mit.edu	36	3	38128843	38128843	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38128843A>G	uc003chp.1	+	c.3653A>G	c.(3652-3654)AAC>AGC	p.N1218S	DLEC1_uc003cho.1_Missense_Mutation_p.N1218S|DLEC1_uc010hgv.1_Missense_Mutation_p.N1221S|DLEC1_uc003chr.1_Missense_Mutation_p.N289S|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1218					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|breast(1)|skin(1)	8														0.251534	112.213848	121.343745	41	122	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	Missense_Mutation	SNP	38128843	38128843	4732	3	A	G	G	2	2	DLEC1	G	4	4
ACAA1	30	broad.mit.edu	36	3	38142347	38142347	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38142347C>T	uc003cht.1	-	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	ACAA1_uc003chu.1_Missense_Mutation_p.E250K|ACAA1_uc010hgy.1_Missense_Mutation_p.E302K|ACAA1_uc010hgz.1_Missense_Mutation_p.E343K|ACAA1_uc003chv.1_Missense_Mutation_p.E191K	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	343					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1														0.558233	410.541046	411.276742	139	110	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	Missense_Mutation	SNP	38142347	38142347	105	3	C	T	T	31	31	ACAA1	T	1	1
SLC22A14	9389	broad.mit.edu	36	3	38324175	38324175	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38324175G>A	uc010hhc.1	+	c.735G>A	c.(733-735)TCG>TCA	p.S245S	SLC22A14_uc003cia.2_3'UTR|SLC22A14_uc003cib.2_Silent_p.S245S	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	245	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0														0.255474	155.647237	170.495747	70	204	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	Silent	SNP	38324175	38324175	14941	3	G	A	A	38	38	SLC22A14	A	1	1
XYLB	9942	broad.mit.edu	36	3	38392647	38392647	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38392647G>A	uc003cic.1	+	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H	XYLB_uc003cid.1_Missense_Mutation_p.R269H	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase homolog	347					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1														0.22028	126.985175	147.590325	63	223	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	Missense_Mutation	SNP	38392647	38392647	18045	3	G	A	A	38	38	XYLB	A	1	1
XYLB	9942	broad.mit.edu	36	3	38395772	38395772	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38395772G>A	uc003cic.1	+	c.1226G>A	c.(1225-1227)CGA>CAA	p.R409Q	XYLB_uc003cid.1_Missense_Mutation_p.R331Q	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase homolog	409					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1														0.560606	214.222171	214.641116	74	58	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	Missense_Mutation	SNP	38395772	38395772	18045	3	G	A	A	37	37	XYLB	A	1	1
SCN5A	6331	broad.mit.edu	36	3	38576900	38576900	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38576900G>A	uc003cio.1	-	c.3987C>T	c.(3985-3987)GGC>GGT	p.G1329G	SCN5A_uc003cim.1_Silent_p.G1141G|SCN5A_uc003cin.1_Silent_p.G1328G|SCN5A_uc003cil.2_Silent_p.G1329G|SCN5A_uc010hhi.1_Silent_p.G1329G|SCN5A_uc010hhj.1_Silent_p.G939G|SCN5A_uc010hhk.1_Silent_p.G1194G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1329					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.298246	38.359468	40.43023	17	40	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Silent	SNP	38576900	38576900	14404	3	G	A	A	38	38	SCN5A	A	1	1
SCN5A	6331	broad.mit.edu	36	3	38597485	38597485	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38597485C>A	uc003cio.1	-	c.3169G>T	c.(3169-3171)GAT>TAT	p.D1057Y	SCN5A_uc003cim.1_Missense_Mutation_p.D923Y|SCN5A_uc003cin.1_Missense_Mutation_p.D1057Y|SCN5A_uc003cil.2_Missense_Mutation_p.D1057Y|SCN5A_uc010hhi.1_Missense_Mutation_p.D1057Y|SCN5A_uc010hhj.1_Missense_Mutation_p.D668Y|SCN5A_uc010hhk.1_Missense_Mutation_p.D923Y	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1057					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.228571	32.258974	36.994617	16	54	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Missense_Mutation	SNP	38597485	38597485	14404	3	C	A	A	32	32	SCN5A	A	3	3
SCN5A	6331	broad.mit.edu	36	3	38614251	38614251	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38614251G>A	uc003cio.1	-	c.2235C>T	c.(2233-2235)TTC>TTT	p.F745F	SCN5A_uc003cim.1_Silent_p.F611F|SCN5A_uc003cin.1_Silent_p.F745F|SCN5A_uc003cil.2_Silent_p.F745F|SCN5A_uc010hhi.1_Silent_p.F745F|SCN5A_uc010hhj.1_Silent_p.F356F|SCN5A_uc010hhk.1_Silent_p.F611F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	745					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.298507	96.137252	101.007689	40	94	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Silent	SNP	38614251	38614251	14404	3	G	A	A	37	37	SCN5A	A	1	1
SCN5A	6331	broad.mit.edu	36	3	38615477	38615477	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38615477G>A	uc003cio.1	-	c.1959C>T	c.(1957-1959)TTC>TTT	p.F653F	SCN5A_uc003cim.1_Silent_p.F519F|SCN5A_uc003cin.1_Silent_p.F653F|SCN5A_uc003cil.2_Silent_p.F653F|SCN5A_uc010hhi.1_Silent_p.F653F|SCN5A_uc010hhj.1_Silent_p.F264F|SCN5A_uc010hhk.1_Silent_p.F519F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	653				F -> V (in Ref. 5; BAD12084/BAD12085).	blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.590476	178.832737	179.579335	62	43	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Silent	SNP	38615477	38615477	14404	3	G	A	A	37	37	SCN5A	A	1	1
SCN5A	6331	broad.mit.edu	36	3	38620395	38620395	+	Missense_Mutation	SNP	G	A	A	rs45600438	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38620395G>A	uc003cio.1	-	c.1702C>T	c.(1702-1704)CGC>TGC	p.R568C	SCN5A_uc003cim.1_Missense_Mutation_p.R434C|SCN5A_uc003cin.1_Missense_Mutation_p.R568C|SCN5A_uc003cil.2_Missense_Mutation_p.R568C|SCN5A_uc010hhi.1_Missense_Mutation_p.R568C|SCN5A_uc010hhj.1_Missense_Mutation_p.R179C|SCN5A_uc010hhk.1_Missense_Mutation_p.R434C	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	568					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.393443	122.298456	123.501304	48	74	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Missense_Mutation	SNP	38620395	38620395	14404	3	G	A	A	38	38	SCN5A	A	1	1
SCN5A	6331	broad.mit.edu	36	3	38623239	38623239	+	Silent	SNP	G	A	A	rs45570333	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38623239G>A	uc003cio.1	-	c.1065C>T	c.(1063-1065)TTC>TTT	p.F355F	SCN5A_uc003cim.1_Silent_p.F221F|SCN5A_uc003cin.1_Silent_p.F355F|SCN5A_uc003cil.2_Silent_p.F355F|SCN5A_uc010hhi.1_Silent_p.F355F|SCN5A_uc010hhj.1_5'Flank|SCN5A_uc010hhk.1_Silent_p.F221F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	355					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.3	65.896144	69.109403	27	63	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Silent	SNP	38623239	38623239	14404	3	G	A	A	37	37	SCN5A	A	1	1
LRRN1	57633	broad.mit.edu	36	3	3862397	3862397	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:3862397G>A	uc003bpt.2	+	c.1072G>A	c.(1072-1074)GAA>AAA	p.E358K	SUMF1_uc003bps.1_Intron|LRRN1_uc003bpv.2_Missense_Mutation_p.E358K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	358	LRR 11.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1														0.528302	163.501737	163.575716	56	50	GG		KEEP	---	---	---	---	capture		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	Missense_Mutation	SNP	3862397	3862397	9410	3	G	A	A	37	37	LRRN1	A	1	1
LRRN1	57633	broad.mit.edu	36	3	3863193	3863193	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:3863193T>G	uc003bpt.2	+	c.1868T>G	c.(1867-1869)ATC>AGC	p.I623S	SUMF1_uc003bps.1_Intron|LRRN1_uc003bpv.2_Missense_Mutation_p.I623S	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	623	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1														0.285714	141.840951	148.756789	48	120	TT		KEEP	---	---	---	---	capture		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	Missense_Mutation	SNP	3863193	3863193	9410	3	T	G	G	50	50	LRRN1	G	4	4
SCN5A	6331	broad.mit.edu	36	3	38637414	38637414	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38637414G>A	uc003cio.1	-	c.535C>T	c.(535-537)CGA>TGA	p.R179*	SCN5A_uc003cim.1_Nonsense_Mutation_p.R45*|SCN5A_uc003cin.1_Nonsense_Mutation_p.R179*|SCN5A_uc003cil.2_Nonsense_Mutation_p.R179*|SCN5A_uc010hhi.1_Nonsense_Mutation_p.R179*|SCN5A_uc010hhk.1_Nonsense_Mutation_p.R45*|SCN5A_uc010hhl.1_Intron|SCN5A_uc003cip.1_Nonsense_Mutation_p.R45*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	179					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.222222	21.242177	24.425613	10	35	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Nonsense_Mutation	SNP	38637414	38637414	14404	3	G	A	A	37	37	SCN5A	A	5	1
SCN10A	6336	broad.mit.edu	36	3	38780011	38780011	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38780011G>A	uc003ciq.1	-	c.680C>T	c.(679-681)TCT>TTT	p.S227F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	227	I.|Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8					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)									0.253165	155.605101	168.702655	60	177	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Missense_Mutation	SNP	38780011	38780011	14394	3	G	A	A	33	33	SCN10A	A	2	2
SCN10A	6336	broad.mit.edu	36	3	38787788	38787788	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38787788G>A	uc003ciq.1	-	c.585C>T	c.(583-585)AGC>AGT	p.S195S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	195	I.|Helical; Name=S3 of repeat I; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8					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)									0.269058	135.849042	146.556022	60	163	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Silent	SNP	38787788	38787788	14394	3	G	A	A	38	38	SCN10A	A	1	1
SCN10A	6336	broad.mit.edu	36	3	38810417	38810417	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38810417G>A	uc003ciq.1	-	c.89C>T	c.(88-90)GCC>GTC	p.A30V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	30					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8					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)									0.327465	242.653264	250.163816	93	191	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Missense_Mutation	SNP	38810417	38810417	14394	3	G	A	A	42	42	SCN10A	A	2	2
SCN11A	11280	broad.mit.edu	36	3	38864025	38864025	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38864025G>T	uc010hhm.1	-	c.4540C>A	c.(4540-4542)CTG>ATG	p.L1514M		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1514	IV.|Helical; Name=S5 of repeat IV; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Cocaine(DB00907)									0.164835	23.260432	32.973733	15	76	GG		KEEP	---	---	---	---	capture		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Missense_Mutation	SNP	38864025	38864025	14395	3	G	T	T	33	33	SCN11A	T	3	3
SCN11A	11280	broad.mit.edu	36	3	38888004	38888004	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38888004G>A	uc010hhm.1	-	c.3695C>T	c.(3694-3696)TCT>TTT	p.S1232F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1232	III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Cocaine(DB00907)									0.259259	54.435117	58.688545	21	60	GG		KEEP	---	---	---	---	capture		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Missense_Mutation	SNP	38888004	38888004	14395	3	G	A	A	33	33	SCN11A	A	2	2
WDR48	57599	broad.mit.edu	36	3	39096235	39096235	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39096235C>T	uc003cit.1	+	c.1105C>T	c.(1105-1107)CTT>TTT	p.L369F	WDR48_uc003ciu.2_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	369	WD 8.				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2														0.591304	212.810425	213.645956	68	47	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	Missense_Mutation	SNP	39096235	39096235	17874	3	C	T	T	32	32	WDR48	T	2	2
GORASP1	64689	broad.mit.edu	36	3	39119248	39119248	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39119248G>A	uc003ciw.1	-	c.273C>T	c.(271-273)GGC>GGT	p.G91G	GORASP1_uc003civ.1_Non-coding_Transcript|GORASP1_uc003cix.1_Non-coding_Transcript|GORASP1_uc003ciy.1_Non-coding_Transcript|GORASP1_uc003ciz.1_Intron	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	91					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)	2														0.330935	107.641986	111.143667	46	93	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	Silent	SNP	39119248	39119248	6848	3	G	A	A	38	38	GORASP1	A	1	1
TTC21A	199223	broad.mit.edu	36	3	39126599	39126599	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39126599C>T	uc003cje.2	+	c.233C>T	c.(232-234)GCC>GTC	p.A78V	GORASP1_uc003civ.1_5'Flank|GORASP1_uc003ciw.1_5'Flank|GORASP1_uc003cix.1_5'Flank|GORASP1_uc003ciy.1_5'Flank|GORASP1_uc003ciz.1_5'Flank|TTC21A_uc003cja.2_Missense_Mutation_p.A78V|TTC21A_uc010hho.1_Intron|TTC21A_uc003cjb.2_Intron|TTC21A_uc003cjc.2_Missense_Mutation_p.A78V|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_001105513	NP_001098983	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 1	78							binding			ovary(1)	1														0.287671	52.541455	55.495375	21	52	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	Missense_Mutation	SNP	39126599	39126599	17241	3	C	T	T	26	26	TTC21A	T	2	2
TTC21A	199223	broad.mit.edu	36	3	39137562	39137562	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39137562C>T	uc003cje.2	+	c.995C>T	c.(994-996)TCG>TTG	p.S332L	TTC21A_uc003cjc.2_Missense_Mutation_p.S332L|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_001105513	NP_001098983	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 1	332							binding			ovary(1)	1														0.286765	94.293972	99.827268	39	97	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	Missense_Mutation	SNP	39137562	39137562	17241	3	C	T	T	31	31	TTC21A	T	1	1
TTC21A	199223	broad.mit.edu	36	3	39141857	39141857	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39141857T>C	uc003cje.2	+	c.1246T>C	c.(1246-1248)TCC>CCC	p.S416P	TTC21A_uc003cjc.2_Missense_Mutation_p.S416P|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_001105513	NP_001098983	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 1	416							binding			ovary(1)	1												OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.223214	64.223501	72.107225	25	87	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	Missense_Mutation	SNP	39141857	39141857	17241	3	T	C	C	58	58	TTC21A	C	4	4
XIRP1	165904	broad.mit.edu	36	3	39201458	39201458	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39201458G>A	uc003cjk.1	-	c.4483C>T	c.(4483-4485)CGG>TGG	p.R1495W	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.R178W|XIRP1_uc010hhp.1_Missense_Mutation_p.R1495W	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1495							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8														0.251908	72.053779	79.35433	33	98	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	Missense_Mutation	SNP	39201458	39201458	18010	3	G	A	A	38	38	XIRP1	A	1	1
MYRIP	25924	broad.mit.edu	36	3	40226353	40226353	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:40226353C>T	uc003cka.1	+	c.1670C>T	c.(1669-1671)TCG>TTG	p.S557L	MYRIP_uc010hhu.1_Non-coding_Transcript|MYRIP_uc010hhv.1_Missense_Mutation_p.S557L|MYRIP_uc010hhw.1_Missense_Mutation_p.S468L	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	557	Myosin-binding.|Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.465839	213.802964	213.96701	75	86	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	Missense_Mutation	SNP	40226353	40226353	10495	3	C	T	T	31	31	MYRIP	T	1	1
ENTPD3	956	broad.mit.edu	36	3	40443968	40443968	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:40443968G>A	uc003ckd.2	+	c.1555G>A	c.(1555-1557)GAG>AAG	p.E519K	ENTPD3_uc010hhy.1_Missense_Mutation_p.E519K	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	519	Cytoplasmic (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1														0.263636	68.527574	74.083794	29	81	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	Missense_Mutation	SNP	40443968	40443968	5333	3	G	A	A	37	37	ENTPD3	A	1	1
ZNF621	285268	broad.mit.edu	36	3	40548698	40548698	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:40548698C>T	uc003ckm.2	+	c.433C>T	c.(433-435)CGA>TGA	p.R145*	ZNF621_uc003ckn.2_Nonsense_Mutation_p.R145*|ZNF621_uc003cko.2_Nonsense_Mutation_p.R110*	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.57047	255.086975	255.731763	85	64	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	Nonsense_Mutation	SNP	40548698	40548698	18640	3	C	T	T	31	31	ZNF621	T	5	1
ZNF621	285268	broad.mit.edu	36	3	40549045	40549045	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:40549045G>T	uc003ckm.2	+	c.780G>T	c.(778-780)GAG>GAT	p.E260D	ZNF621_uc003ckn.2_Missense_Mutation_p.E260D|ZNF621_uc003cko.2_Missense_Mutation_p.E225D	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.263636	64.014068	69.579808	29	81	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	Missense_Mutation	SNP	40549045	40549045	18640	3	G	T	T	33	33	ZNF621	T	3	3
CHL1	10752	broad.mit.edu	36	3	415720	415720	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:415720G>T	uc003bot.1	+	c.3274G>T	c.(3274-3276)GAC>TAC	p.D1092Y	CHL1_uc003bou.1_Missense_Mutation_p.D1076Y|CHL1_uc003bow.1_Missense_Mutation_p.D1076Y	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1076	Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				central_nervous_system(4)|large_intestine(2)|ovary(1)	7		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)								659				0.202952	108.951897	131.179577	55	216	GG		KEEP	---	---	---	---	capture		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	Missense_Mutation	SNP	415720	415720	3483	3	G	T	T	45	45	CHL1	T	3	3
TRAK1	22906	broad.mit.edu	36	3	42219232	42219232	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42219232C>T	uc003cky.1	+	c.1728C>T	c.(1726-1728)ATC>ATT	p.I576I	TRAK1_uc003ckz.2_Silent_p.I502I|TRAK1_uc003cla.1_Silent_p.I518I	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	576					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.235294	40.637777	46.032777	20	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	42219232	42219232	16993	3	C	T	T	31	31	TRAK1	T	1	1
TRAK1	22906	broad.mit.edu	36	3	42226397	42226397	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42226397G>A	uc003cky.1	+	c.1879G>A	c.(1879-1881)GAC>AAC	p.D627N	TRAK1_uc003cla.1_Missense_Mutation_p.D569N	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	627					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.541502	399.777636	400.156353	137	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42226397	42226397	16993	3	G	A	A	37	37	TRAK1	A	1	1
TRAK1	22906	broad.mit.edu	36	3	42240050	42240050	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42240050C>T	uc003cky.1	+	c.2679C>T	c.(2677-2679)GGC>GGT	p.G893G		NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	893					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.590909	179.544331	180.368251	65	45	CC		KEEP	---	---	---	---	capture			Silent	SNP	42240050	42240050	16993	3	C	T	T	26	26	TRAK1	T	2	2
LYZL4	131375	broad.mit.edu	36	3	42423362	42423362	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42423362C>T	uc003cle.1	-	c.272G>A	c.(271-273)CGC>CAC	p.R91H		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	91					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)	1														0.22973	33.177464	38.107882	17	57	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.222)	Missense_Mutation	SNP	42423362	42423362	9510	3	C	T	T	27	27	LYZL4	T	1	1
VIPR1	7433	broad.mit.edu	36	3	42547421	42547421	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42547421C>T	uc003clf.1	+	c.783C>T	c.(781-783)ATC>ATT	p.I261I	VIPR1_uc003clg.1_5'Flank	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	261	Helical; Name=4; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity				0														0.285	137.085411	145.388845	57	143	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.241)	Silent	SNP	42547421	42547421	17736	3	C	T	T	31	31	VIPR1	T	1	1
NKTR	4820	broad.mit.edu	36	3	42654629	42654629	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42654629A>G	uc003clo.1	+	c.2429A>G	c.(2428-2430)GAC>GGC	p.D810G	NKTR_uc003clm.1_Missense_Mutation_p.D557G|NKTR_uc003clp.1_Missense_Mutation_p.D557G|NKTR_uc003clq.1_Missense_Mutation_p.D700G|NKTR_uc003clr.1_Missense_Mutation_p.D557G|NKTR_uc003cls.1_Missense_Mutation_p.D510G	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	810	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)	2														0.270718	143.682826	152.277069	49	132	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.24)	Missense_Mutation	SNP	42654629	42654629	10849	3	A	G	G	10	10	NKTR	G	4	4
NKTR	4820	broad.mit.edu	36	3	42655242	42655242	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42655242T>A	uc003clo.1	+	c.3042T>A	c.(3040-3042)TTT>TTA	p.F1014L	NKTR_uc003clm.1_Missense_Mutation_p.F761L|NKTR_uc003clp.1_Missense_Mutation_p.F761L|NKTR_uc003clq.1_Missense_Mutation_p.F904L|NKTR_uc003clr.1_Missense_Mutation_p.F761L|NKTR_uc003cls.1_Missense_Mutation_p.F714L	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1014					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)	2														0.31405	87.595582	91.325283	38	83	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.24)	Missense_Mutation	SNP	42655242	42655242	10849	3	T	A	A	62	62	NKTR	A	4	4
NKTR	4820	broad.mit.edu	36	3	42656017	42656017	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42656017C>T	uc003clo.1	+	c.3817C>T	c.(3817-3819)CGG>TGG	p.R1273W	NKTR_uc003clm.1_Missense_Mutation_p.R1020W|NKTR_uc003clp.1_Missense_Mutation_p.R1020W|NKTR_uc003clq.1_Missense_Mutation_p.R1163W|NKTR_uc003clr.1_Missense_Mutation_p.R1020W|NKTR_uc003cls.1_Missense_Mutation_p.R973W	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1273					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)	2														0.539062	199.169129	199.33805	69	59	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.24)	Missense_Mutation	SNP	42656017	42656017	10849	3	C	T	T	31	31	NKTR	T	1	1
NKTR	4820	broad.mit.edu	36	3	42656192	42656192	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42656192C>A	uc003clo.1	+	c.3992C>A	c.(3991-3993)TCT>TAT	p.S1331Y	NKTR_uc003clm.1_Missense_Mutation_p.S1078Y|NKTR_uc003clp.1_Missense_Mutation_p.S1078Y|NKTR_uc003clq.1_Missense_Mutation_p.S1221Y|NKTR_uc003clr.1_Missense_Mutation_p.S1078Y|NKTR_uc003cls.1_Missense_Mutation_p.S1031Y	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1331	Arg/Ser tandem repeat-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)	2														0.268041	115.500914	124.935451	52	142	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.24)	Missense_Mutation	SNP	42656192	42656192	10849	3	C	A	A	32	32	NKTR	A	3	3
ZBTB47	92999	broad.mit.edu	36	3	42678052	42678052	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42678052C>T	uc003clu.1	+	c.417C>T	c.(415-417)TAC>TAT	p.Y139Y		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.259615	60.776262	66.220527	27	77	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.216)	Silent	SNP	42678052	42678052	18135	3	C	T	T	19	19	ZBTB47	T	1	1
HHATL	57467	broad.mit.edu	36	3	42714765	42714765	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42714765C>T	uc003clw.1	-	c.566G>A	c.(565-567)AGC>AAC	p.S189N	HHATL_uc003clx.1_Missense_Mutation_p.S189N	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	189					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3														0.234899	81.035827	90.628865	35	114	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.215)	Missense_Mutation	SNP	42714765	42714765	7374	3	C	T	T	28	28	HHATL	T	2	2
CCDC13	152206	broad.mit.edu	36	3	42747084	42747084	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42747084A>G	uc003cly.2	-	c.1597T>C	c.(1597-1599)TTC>CTC	p.F533L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	533										ovary(1)	1														0.61194	145.992034	146.728579	41	26	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42747084	42747084	2885	3	A	G	G	2	2	CCDC13	G	4	4
CCDC13	152206	broad.mit.edu	36	3	42756138	42756138	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42756138C>T	uc003cly.2	-	c.1156G>A	c.(1156-1158)GCC>ACC	p.A386T		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	386	Potential.									ovary(1)	1														0.19697	41.104373	52.390203	26	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42756138	42756138	2885	3	C	T	T	27	27	CCDC13	T	1	1
CCDC13	152206	broad.mit.edu	36	3	42763826	42763826	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42763826G>A	uc003cly.2	-	c.647C>T	c.(646-648)GCC>GTC	p.A216V	CCDC13_uc003clz.2_Missense_Mutation_p.A216V	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	216	Potential.									ovary(1)	1														0.590909	115.648456	116.134345	39	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42763826	42763826	2885	3	G	A	A	42	42	CCDC13	A	2	2
CCBP2	1238	broad.mit.edu	36	3	42881394	42881394	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42881394C>A	uc003cme.1	+	c.396C>A	c.(394-396)ATC>ATA	p.I132I	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.1_Silent_p.I132I|CCBP2_uc003cmg.2_Intron|CCBP2_uc010hie.1_Intron|CYP8B1_uc010hif.1_Intron|CCBP2_uc010hig.1_Silent_p.I132I	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	132	Helical; Name=3; (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity				0														0.256318	155.474417	170.407688	71	206	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.241)	Silent	SNP	42881394	42881394	2854	3	C	A	A	32	32	CCBP2	A	3	3
CCBP2	1238	broad.mit.edu	36	3	42881728	42881728	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42881728G>A	uc003cme.1	+	c.730G>A	c.(730-732)GGC>AGC	p.G244S	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.1_Missense_Mutation_p.G244S|CCBP2_uc003cmg.2_Intron|CCBP2_uc010hie.1_Intron|CYP8B1_uc010hif.1_Intron|CCBP2_uc010hig.1_Missense_Mutation_p.G244S	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	244	Cytoplasmic (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity				0														0.263314	234.027976	251.147778	89	249	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.241)	Missense_Mutation	SNP	42881728	42881728	2854	3	G	A	A	35	35	CCBP2	A	2	2
C3orf39	84892	broad.mit.edu	36	3	43096727	43096727	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:43096727T>C	uc003cmq.1	-	c.1201A>G	c.(1201-1203)ACA>GCA	p.T401A	C3orf39_uc003cmr.1_Missense_Mutation_p.T401A|C3orf39_uc010hij.1_Missense_Mutation_p.T401A	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase	401						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1														0.11	10.759373	25.806438	11	89	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	Missense_Mutation	SNP	43096727	43096727	2322	3	T	C	C	59	59	C3orf39	C	4	4
C3orf39	84892	broad.mit.edu	36	3	43096986	43096986	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:43096986G>A	uc003cmq.1	-	c.942C>T	c.(940-942)TTC>TTT	p.F314F	C3orf39_uc003cmr.1_Silent_p.F314F|C3orf39_uc010hij.1_Silent_p.F314F	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase	314						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1														0.338346	116.941601	120.011325	45	88	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	Silent	SNP	43096986	43096986	2322	3	G	A	A	41	41	C3orf39	A	2	2
SNRK	54861	broad.mit.edu	36	3	43364975	43364975	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:43364975C>T	uc003cms.2	+	c.2220C>T	c.(2218-2220)ATC>ATT	p.I740I	SNRK_uc003cmt.2_Silent_p.I740I|SNRK_uc010hik.1_Silent_p.I740I	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	740					myeloid cell differentiation|protein phosphorylation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|breast(1)	4										165				0.208333	46.042642	53.608781	20	76	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	Silent	SNP	43364975	43364975	15351	3	C	T	T	32	32	SNRK	T	2	2
ANO10	55129	broad.mit.edu	36	3	43617006	43617006	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:43617006G>A	uc003cmv.1	-	c.211C>T	c.(211-213)CTT>TTT	p.L71F	ANO10_uc003cmw.1_Intron|ANO10_uc010hil.1_Missense_Mutation_p.L71F	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	71	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)	2														0.29745	265.209496	278.175293	105	248	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43617006	43617006	704	3	G	A	A	33	33	ANO10	A	2	2
ANO10	55129	broad.mit.edu	36	3	43622308	43622308	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:43622308G>T	uc003cmv.1	-	c.41C>A	c.(40-42)TCT>TAT	p.S14Y	ANO10_uc003cmw.1_Missense_Mutation_p.S14Y|ANO10_uc010hil.1_Missense_Mutation_p.S14Y	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	14	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)	2														0.212389	46.229689	54.879345	24	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43622308	43622308	704	3	G	T	T	33	33	ANO10	T	3	3
C3orf23	285343	broad.mit.edu	36	3	44409457	44409457	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44409457C>T	uc010him.1	+	c.679C>T	c.(679-681)CAA>TAA	p.Q227*	C3orf23_uc003cnd.2_Nonsense_Mutation_p.Q227*|C3orf23_uc003cne.2_Nonsense_Mutation_p.Q83*	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	hypothetical protein LOC285343 isoform 1	227						mitochondrion				ovary(1)	1														0.304687	189.334127	198.058627	78	178	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	Nonsense_Mutation	SNP	44409457	44409457	2309	3	C	T	T	25	25	C3orf23	T	5	2
ZNF445	353274	broad.mit.edu	36	3	44465106	44465106	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44465106G>T	uc003cnf.2	-	c.1061C>A	c.(1060-1062)TCT>TAT	p.S354Y		NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	354					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.272727	135.98506	146.241631	60	160	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	Missense_Mutation	SNP	44465106	44465106	18511	3	G	T	T	33	33	ZNF445	T	3	3
ZNF660	285349	broad.mit.edu	36	3	44611056	44611056	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44611056C>T	uc003cnl.1	+	c.367C>T	c.(367-369)CGG>TGG	p.R123W	ZNF660_uc010hip.1_Missense_Mutation_p.R123W	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	123	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.32	119.737342	124.060912	48	102	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	Missense_Mutation	SNP	44611056	44611056	18665	3	C	T	T	31	31	ZNF660	T	1	1
ZNF197	10168	broad.mit.edu	36	3	44645834	44645834	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44645834C>T	uc003cnm.1	+	c.184C>T	c.(184-186)CGG>TGG	p.R62W	ZNF197_uc003cnn.1_Missense_Mutation_p.R62W|ZNF197_uc003cno.1_Non-coding_Transcript|ZNF197_uc003cnp.1_Missense_Mutation_p.R62W	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	62	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.278351	132.722	141.2651	54	140	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	Missense_Mutation	SNP	44645834	44645834	18350	3	C	T	T	23	23	ZNF197	T	1	1
ZNF35	7584	broad.mit.edu	36	3	44676256	44676256	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44676256G>T	uc003cnq.1	+	c.1397G>T	c.(1396-1398)AGA>ATA	p.R466I	ZNF35_uc003cnr.1_Missense_Mutation_p.R306I	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	466	C2H2-type 9.				cellular response to retinoic acid|regulation of transcription, DNA-dependent|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)												0.20354	43.452049	52.682455	23	90	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Missense_Mutation	SNP	44676256	44676256	18454	3	G	T	T	33	33	ZNF35	T	3	3
ZNF502	91392	broad.mit.edu	36	3	44737833	44737833	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44737833C>T	uc003cns.1	+	c.520C>T	c.(520-522)CAG>TAG	p.Q174*	ZNF502_uc003cnt.1_Nonsense_Mutation_p.Q174*	NM_033210	NP_149987	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	174	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.212465	159.012176	186.003602	75	278	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	Nonsense_Mutation	SNP	44737833	44737833	18544	3	C	T	T	29	29	ZNF502	T	5	2
ZNF501	115560	broad.mit.edu	36	3	44751538	44751538	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44751538A>G	uc003cnu.1	+	c.621A>G	c.(619-621)GAA>GAG	p.E207E	ZNF501_uc003cnv.1_Missense_Mutation_p.N151S	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	zinc finger protein 501	207	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.373913	141.802036	143.405327	43	72	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	Silent	SNP	44751538	44751538	18543	3	A	G	G	2	2	ZNF501	G	4	4
KIF15	56992	broad.mit.edu	36	3	44803016	44803016	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44803016C>T	uc003cnx.2	+	c.585C>T	c.(583-585)GTC>GTT	p.V195V	KIF15_uc010hiq.1_Silent_p.V98V	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	195	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1														0.289855	106.880841	112.320932	40	98	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	Silent	SNP	44803016	44803016	8588	3	C	T	T	32	32	KIF15	T	2	2
KIF15	56992	broad.mit.edu	36	3	44810771	44810771	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44810771C>T	uc003cnx.2	+	c.698C>T	c.(697-699)TCG>TTG	p.S233L	KIF15_uc010hiq.1_Missense_Mutation_p.S136L	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	233	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1														0.52514	278.450216	278.548375	94	85	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	Missense_Mutation	SNP	44810771	44810771	8588	3	C	T	T	31	31	KIF15	T	1	1
KIF15	56992	broad.mit.edu	36	3	44868410	44868410	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44868410C>T	uc003cnx.2	+	c.3934C>T	c.(3934-3936)CTG>TTG	p.L1312L	KIF15_uc010hiq.1_Silent_p.L1215L|KIF15_uc010hir.1_Silent_p.L360L	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1312	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1														0.535714	275.947102	276.132244	90	78	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	Silent	SNP	44868410	44868410	8588	3	C	T	T	28	28	KIF15	T	2	2
TGM4	7047	broad.mit.edu	36	3	44926782	44926782	+	Silent	SNP	C	T	T	rs17850132	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44926782C>T	uc003coc.2	+	c.1524C>T	c.(1522-1524)GGC>GGT	p.G508G		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	508					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1					L-Glutamine(DB00130)									0.323741	124.727395	128.560268	45	94	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	Silent	SNP	44926782	44926782	16360	3	C	T	T	28	28	TGM4	T	2	2
CDCP1	64866	broad.mit.edu	36	3	45110096	45110096	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45110096T>C	uc003com.1	-	c.1304A>G	c.(1303-1305)GAC>GGC	p.D435G		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	435	CUB.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)	1														0.293478	153.144227	160.197011	54	130	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	Missense_Mutation	SNP	45110096	45110096	3222	3	T	C	C	58	58	CDCP1	C	4	4
CDCP1	64866	broad.mit.edu	36	3	45128866	45128866	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45128866C>A	uc003com.1	-	c.368G>T	c.(367-369)AGA>ATA	p.R123I	CDCP1_uc003con.1_Missense_Mutation_p.R123I	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	123	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)	1														0.566239	742.440546	744.218041	265	203	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	Missense_Mutation	SNP	45128866	45128866	3222	3	C	A	A	32	32	CDCP1	A	3	3
LIMD1	8994	broad.mit.edu	36	3	45611421	45611421	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45611421G>A	uc003coq.1	+	c.46G>A	c.(46-48)GAG>AAG	p.E16K		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	16					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|transcription repressor activity|zinc ion binding			ovary(1)	1														0.285714	63.113514	66.863152	26	65	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	Missense_Mutation	SNP	45611421	45611421	9124	3	G	A	A	37	37	LIMD1	A	1	1
LZTFL1	54585	broad.mit.edu	36	3	45847414	45847414	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45847414G>A	uc003cox.1	-	c.595C>T	c.(595-597)CAA>TAA	p.Q199*	LZTFL1_uc003coy.1_Nonsense_Mutation_p.Q182*	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	199	Potential.										0														0.259542	75.779325	82.647609	34	97	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	Nonsense_Mutation	SNP	45847414	45847414	9513	3	G	A	A	45	45	LZTFL1	A	5	2
CCR9	10803	broad.mit.edu	36	3	45917897	45917897	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45917897G>A	uc003coz.1	+	c.613G>A	c.(613-615)GAT>AAT	p.D205N	LZTFL1_uc003coy.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.D193N|CCR9_uc003cpa.1_Missense_Mutation_p.D193N|CCR9_uc010hiw.1_Missense_Mutation_p.D193N	NM_031200	NP_006632	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9 isoform A	205	Extracellular (Potential).				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				ovary(2)	2														0.305085	91.351632	95.353288	36	82	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	Missense_Mutation	SNP	45917897	45917897	3075	3	G	A	A	37	37	CCR9	A	1	1
CXCR6	10663	broad.mit.edu	36	3	45963806	45963806	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45963806G>A	uc003cpc.1	+	c.829G>A	c.(829-831)GCA>ACA	p.A277T	FYCO1_uc003cpb.2_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.A277T|CXCR6_uc010hiy.1_Missense_Mutation_p.A277T	NM_006564	NP_006555	O00574	CXCR6_HUMAN	G protein-coupled receptor TYMSTR	277	Helical; Name=7; (Potential).				viral genome replication	integral to plasma membrane	coreceptor activity			skin(1)	1						Esophageal Squamous(63;1005 1117 15521 45762 47089)								0.442308	124.535471	124.836344	46	58	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	Missense_Mutation	SNP	45963806	45963806	4255	3	G	A	A	38	38	CXCR6	A	1	1
CCR1	1230	broad.mit.edu	36	3	46219787	46219787	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46219787G>T	uc003cph.1	-	c.1022C>A	c.(1021-1023)TCC>TAC	p.S341Y	CCR3_uc003cpg.1_Intron|CCR1_uc010hja.1_Missense_Mutation_p.S341Y	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	341	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3										20				0.269663	49.465112	53.726105	24	65	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	Missense_Mutation	SNP	46219787	46219787	3066	3	G	T	T	41	41	CCR1	T	3	3
CCR1	1230	broad.mit.edu	36	3	46220241	46220241	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46220241C>T	uc003cph.1	-	c.568G>A	c.(568-570)GAA>AAA	p.E190K	CCR3_uc003cpg.1_Intron|CCR1_uc010hja.1_Missense_Mutation_p.E190K	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	190	Extracellular (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3										20				0.557143	227.043177	227.439279	78	62	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	Missense_Mutation	SNP	46220241	46220241	3066	3	C	T	T	31	31	CCR1	T	1	1
CCR3	1232	broad.mit.edu	36	3	46282080	46282080	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46282080C>T	uc003cpl.1	+	c.526C>T	c.(526-528)CGA>TGA	p.R176*	CCR3_uc003cpg.1_Nonsense_Mutation_p.R143*|CCR3_uc003cpi.1_Nonsense_Mutation_p.R143*|CCR3_uc003cpj.1_Nonsense_Mutation_p.R143*|CCR3_uc003cpk.1_Nonsense_Mutation_p.R164*|CCR3_uc010hjb.1_Nonsense_Mutation_p.R161*|CCR3_uc010hjc.1_Nonsense_Mutation_p.R143*	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3	143	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(2)|kidney(1)	3										19				0.261364	108.084343	117.146712	46	130	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	Nonsense_Mutation	SNP	46282080	46282080	3069	3	C	T	T	31	31	CCR3	T	5	1
RTP3	83597	broad.mit.edu	36	3	46517166	46517166	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46517166C>T	uc003cps.1	+	c.472C>T	c.(472-474)CTG>TTG	p.L158L		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	158	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2														0.236111	79.665441	88.844125	34	110	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	Silent	SNP	46517166	46517166	14215	3	C	T	T	32	32	RTP3	T	2	2
LRRC2	79442	broad.mit.edu	36	3	46546494	46546494	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46546494A>C	uc010hji.1	-	c.678T>G	c.(676-678)TTT>TTG	p.F226L	LRRC2_uc003cpu.2_Missense_Mutation_p.F226L	NM_024512	NP_079026	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	226	LRR 5.									ovary(1)	1		Ovarian(412;0.0563)								131				0.240506	53.584756	58.440304	19	60	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	Missense_Mutation	SNP	46546494	46546494	9350	3	A	C	C	1	1	LRRC2	C	4	4
LRRC2	79442	broad.mit.edu	36	3	46549332	46549332	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46549332C>A	uc010hji.1	-	c.562G>T	c.(562-564)GAT>TAT	p.D188Y	LRRC2_uc003cpu.2_Missense_Mutation_p.D188Y	NM_024512	NP_079026	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	188	LRR 3.									ovary(1)	1		Ovarian(412;0.0563)								131				0.272727	128.562391	138.308557	57	152	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	Missense_Mutation	SNP	46549332	46549332	9350	3	C	A	A	32	32	LRRC2	A	3	3
TDGF1	6997	broad.mit.edu	36	3	46595803	46595803	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46595803G>A	uc003cpv.1	+	c.166G>A	c.(166-168)GAG>AAG	p.E56K	LRRC2_uc003cpu.2_Intron	NM_003212	NP_003203	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	56					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity				0														0.309524	100.317402	104.369437	39	87	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	Missense_Mutation	SNP	46595803	46595803	16252	3	G	A	A	41	41	TDGF1	A	2	2
ALS2CL	259173	broad.mit.edu	36	3	46688001	46688001	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46688001A>G	uc003cqa.1	-	c.2762T>C	c.(2761-2763)TTC>TCC	p.F921S	ALS2CL_uc003cpx.1_Missense_Mutation_p.F268S|ALS2CL_uc003cpy.1_Non-coding_Transcript|ALS2CL_uc003cpz.1_Missense_Mutation_p.F436S|ALS2CL_uc003cqb.1_Missense_Mutation_p.F921S|ALS2CL_uc003cqc.1_Non-coding_Transcript	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	921	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)	4														0.5	192.448892	192.448892	57	57	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	Missense_Mutation	SNP	46688001	46688001	554	3	A	G	G	9	9	ALS2CL	G	4	4
ALS2CL	259173	broad.mit.edu	36	3	46697854	46697854	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46697854C>T	uc003cqa.1	-	c.1322G>A	c.(1321-1323)CGG>CAG	p.R441Q	ALS2CL_uc003cpz.1_5'UTR|ALS2CL_uc003cqb.1_Missense_Mutation_p.R441Q|ALS2CL_uc003cqc.1_Non-coding_Transcript	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	441	MORN 4.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)	4														0.553279	417.439548	418.042531	135	109	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	Missense_Mutation	SNP	46697854	46697854	554	3	C	T	T	23	23	ALS2CL	T	1	1
TMIE	259236	broad.mit.edu	36	3	46725735	46725735	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46725735G>A	uc010hjk.1	+	c.327G>A	c.(325-327)GTG>GTA	p.V109V	TMIE_uc010hjj.1_Missense_Mutation_p.A149T	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN	transmembrane inner ear protein	109	Cytoplasmic (Potential).					integral to membrane					0														0.296296	52.799938	55.789884	24	57	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	Silent	SNP	46725735	46725735	16769	3	G	A	A	46	46	TMIE	A	2	2
ITPR1	3708	broad.mit.edu	36	3	4681821	4681821	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:4681821G>T	uc003bqa.2	+	c.1555_splice	c.e17-1	p.I519_splice	ITPR1_uc010hca.1_Splice_Site_SNP_p.I504_splice|ITPR1_uc010hcb.1_Splice_Site_SNP_p.I504_splice	NM_001099952	NP_001093422			inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			ovary(4)|breast(2)|large_intestine(1)|kidney(1)|liver(1)|skin(1)|pancreas(1)	11										2114				0.170732	45.885758	62.717273	28	136	GG		KEEP	---	---	---	---	capture		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Splice_Site_SNP	SNP	4681821	4681821	8224	3	G	T	T	33	33	ITPR1	T	5	3
PRSS42	339906	broad.mit.edu	36	3	46848483	46848483	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46848483T>C	uc003cqk.1	-	c.679A>G	c.(679-681)ATG>GTG	p.M227V	PRSS42_uc003cqj.1_Intron	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	testis serine protease 2	227	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			pancreas(1)	1														0.261146	97.906286	106.012319	41	116	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46848483	46848483	13079	3	T	C	C	51	51	PRSS42	C	4	4
ITPR1	3708	broad.mit.edu	36	3	4689983	4689983	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:4689983C>A	uc003bqa.2	+	c.2368C>A	c.(2368-2370)CAT>AAT	p.H790N	ITPR1_uc010hca.1_Missense_Mutation_p.H775N|ITPR1_uc010hcb.1_Missense_Mutation_p.H775N	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	790	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			ovary(4)|breast(2)|large_intestine(1)|kidney(1)|liver(1)|skin(1)|pancreas(1)	11										2114				0.251534	98.790866	107.93747	41	122	CC		KEEP	---	---	---	---	capture		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Missense_Mutation	SNP	4689983	4689983	8224	3	C	A	A	25	25	ITPR1	A	3	3
ITPR1	3708	broad.mit.edu	36	3	4700119	4700119	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:4700119C>A	uc003bqa.2	+	c.3184C>A	c.(3184-3186)CTC>ATC	p.L1062I	ITPR1_uc010hca.1_Missense_Mutation_p.L1047I|ITPR1_uc003bqc.2_5'UTR	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1071	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			ovary(4)|breast(2)|large_intestine(1)|kidney(1)|liver(1)|skin(1)|pancreas(1)	11										2114				0.566766	529.185846	530.485056	191	146	CC		KEEP	---	---	---	---	capture		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Missense_Mutation	SNP	4700119	4700119	8224	3	C	A	A	32	32	ITPR1	A	3	3
NBEAL2	23218	broad.mit.edu	36	3	47015019	47015019	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47015019G>A	uc003cqp.2	+	c.3181G>A	c.(3181-3183)GGC>AGC	p.G1061S	NBEAL2_uc010hjm.1_Missense_Mutation_p.G622S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1061							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)										OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.580645	57.054612	57.230748	18	13	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	Missense_Mutation	SNP	47015019	47015019	10585	3	G	A	A	39	39	NBEAL2	A	1	1
ITPR1	3708	broad.mit.edu	36	3	4701762	4701762	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:4701762C>T	uc003bqa.2	+	c.3547C>T	c.(3547-3549)CGG>TGG	p.R1183W	ITPR1_uc010hca.1_Missense_Mutation_p.R1168W|ITPR1_uc003bqc.2_Missense_Mutation_p.R114W	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1192	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			ovary(4)|breast(2)|large_intestine(1)|kidney(1)|liver(1)|skin(1)|pancreas(1)	11										2114				0.35	18.918564	19.315774	7	13	CC		KEEP	---	---	---	---	capture		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Missense_Mutation	SNP	4701762	4701762	8224	3	C	T	T	31	31	ITPR1	T	1	1
NBEAL2	23218	broad.mit.edu	36	3	47018213	47018213	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47018213C>T	uc003cqp.2	+	c.4675C>T	c.(4675-4677)CGC>TGC	p.R1559C	NBEAL2_uc010hjm.1_Missense_Mutation_p.R936C|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1559							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)												0.555556	174.100363	174.389914	60	48	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	Missense_Mutation	SNP	47018213	47018213	10585	3	C	T	T	31	31	NBEAL2	T	1	1
NBEAL2	23218	broad.mit.edu	36	3	47019717	47019717	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47019717G>A	uc003cqp.2	+	c.5634G>A	c.(5632-5634)GTG>GTA	p.V1878V	NBEAL2_uc010hjm.1_Silent_p.V1255V|NBEAL2_uc010hjn.1_Silent_p.V274V|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1878							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)												0.349206	55.326329	56.592443	22	41	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	Silent	SNP	47019717	47019717	10585	3	G	A	A	45	45	NBEAL2	A	2	2
SETD2	29072	broad.mit.edu	36	3	47034137	47034137	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47034137G>A	uc003cqs.1	-	c.6019C>T	c.(6019-6021)CGC>TGC	p.R2007C	SETD2_uc003cqr.1_Missense_Mutation_p.R109C	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2510	Interaction with POLR2A.			R->A: Impairs interaction with hyperphosphorylated POLR2A.	oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)												0.285714	43.525146	46.120768	18	45	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	Missense_Mutation	SNP	47034137	47034137	14620	3	G	A	A	37	37	SETD2	A	1	1
SETD2	29072	broad.mit.edu	36	3	47059095	47059095	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47059095C>T	uc003cqs.1	-	c.5689G>A	c.(5689-5691)GAT>AAT	p.D1897N	SETD2_uc003cqr.1_5'UTR	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2400	WW.				oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)												0.301887	122.230625	127.808158	48	111	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	Missense_Mutation	SNP	47059095	47059095	14620	3	C	T	T	32	32	SETD2	T	2	2
SETD2	29072	broad.mit.edu	36	3	47078788	47078788	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47078788C>T	uc003cqs.1	-	c.4653G>A	c.(4651-4653)CCG>CCA	p.P1551P	SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2054					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)												0.226852	319.705992	364.085663	147	501	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	Silent	SNP	47078788	47078788	14620	3	C	T	T	31	31	SETD2	T	1	1
SETD2	29072	broad.mit.edu	36	3	47137130	47137130	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47137130C>T	uc003cqs.1	-	c.2491G>A	c.(2491-2493)GAT>AAT	p.D831N	SETD2_uc003cqu.1_Missense_Mutation_p.D1290N|SETD2_uc003cqv.1_Missense_Mutation_p.D1323N	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1334					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)												0.543478	213.014156	213.239101	75	63	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	Missense_Mutation	SNP	47137130	47137130	14620	3	C	T	T	29	29	SETD2	T	2	2
SETD2	29072	broad.mit.edu	36	3	47139015	47139015	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47139015C>T	uc003cqs.1	-	c.606G>A	c.(604-606)TCG>TCA	p.S202S	SETD2_uc003cqu.1_Silent_p.S661S|SETD2_uc003cqv.1_Silent_p.S694S	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	705					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)												0.277551	175.958766	186.829231	68	177	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	Silent	SNP	47139015	47139015	14620	3	C	T	T	23	23	SETD2	T	1	1
KIF9	64147	broad.mit.edu	36	3	47282329	47282329	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47282329A>T	uc003cqx.1	-	c.811T>A	c.(811-813)TCG>ACG	p.S271T	KIF9_uc003cqy.1_Missense_Mutation_p.S271T|KIF9_uc010hjp.1_Missense_Mutation_p.S271T|KIF9_uc003cqz.1_Missense_Mutation_p.S271T	NM_182902	NP_878905	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	271					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0		Acute lymphoblastic leukemia(5;0.164)				Colon(44;962 1147 15977 24541)								0.314176	218.06219	226.078649	82	179	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	Missense_Mutation	SNP	47282329	47282329	8621	3	A	T	T	12	12	KIF9	T	4	4
SCAP	22937	broad.mit.edu	36	3	47431141	47431141	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47431141G>A	uc003crh.1	-	c.3312C>T	c.(3310-3312)TTC>TTT	p.F1104F	SCAP_uc003crg.2_Silent_p.F711F	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1104	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 4.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1						Pancreas(149;978 1908 29304 37806 46700)								0.24031	68.55633	76.500451	31	98	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	Silent	SNP	47431141	47431141	14358	3	G	A	A	41	41	SCAP	A	2	2
SCAP	22937	broad.mit.edu	36	3	47435976	47435976	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47435976C>T	uc003crh.1	-	c.1786G>A	c.(1786-1788)GAG>AAG	p.E596K	SCAP_uc003crg.2_Missense_Mutation_p.E204K	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	596	Lumenal (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1						Pancreas(149;978 1908 29304 37806 46700)								0.335196	156.039279	160.343848	60	119	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	Missense_Mutation	SNP	47435976	47435976	14358	3	C	T	T	31	31	SCAP	T	1	1
SCAP	22937	broad.mit.edu	36	3	47444118	47444118	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47444118C>T	uc003crh.1	-	c.454G>A	c.(454-456)GAC>AAC	p.D152N	SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	152	Lumenal (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1						Pancreas(149;978 1908 29304 37806 46700)								0.607595	137.492502	138.290168	48	31	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	Missense_Mutation	SNP	47444118	47444118	14358	3	C	T	T	31	31	SCAP	T	1	1
SMARCC1	6599	broad.mit.edu	36	3	47745571	47745571	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47745571C>A	uc003crq.2	-	c.594G>T	c.(592-594)GAG>GAT	p.E198D		NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	198					chromatin assembly or disassembly|chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			lung(1)|skin(1)	2														0.21	40.613551	48.403159	21	79	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Missense_Mutation	SNP	47745571	47745571	15273	3	C	A	A	32	32	SMARCC1	A	3	3
DHX30	22907	broad.mit.edu	36	3	47862193	47862193	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47862193G>A	uc003cru.1	+	c.940_splice	c.e10-1	p.S314_splice	DHX30_uc003crt.1_Splice_Site_SNP_p.S275_splice|DHX30_uc010hjr.1_Splice_Site_SNP_p.S342_splice	NM_138615	NP_619520			DEAH (Asp-Glu-Ala-His) box polypeptide 30							mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(2)|skin(2)	4														0.28	92.965817	98.409194	35	90	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	Splice_Site_SNP	SNP	47862193	47862193	4683	3	G	A	A	33	33	DHX30	A	5	2
MAP4	4134	broad.mit.edu	36	3	47932445	47932445	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47932445C>T	uc003csb.1	-	c.1876G>A	c.(1876-1878)GAA>AAA	p.E626K	MAP4_uc003csc.2_Missense_Mutation_p.E626K|MAP4_uc003csf.2_Missense_Mutation_p.E643K	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	626					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3														0.26776	134.092977	143.004458	49	134	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Missense_Mutation	SNP	47932445	47932445	9641	3	C	T	T	24	24	MAP4	T	2	2
ZNF589	51385	broad.mit.edu	36	3	48284442	48284442	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48284442C>A	uc003csl.2	+	c.257C>A	c.(256-258)TCT>TAT	p.S86Y	ZNF589_uc010hjt.1_Missense_Mutation_p.S83Y|ZNF589_uc003csn.2_Non-coding_Transcript|ZNF589_uc003csm.2_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	86	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						Colon(9;319 328 25374 27611 50948)								0.318519	104.563386	108.522972	43	92	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	Missense_Mutation	SNP	48284442	48284442	18616	3	C	A	A	32	32	ZNF589	A	3	3
FBXW12	285231	broad.mit.edu	36	3	48411125	48411125	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48411125G>A	uc003csr.1	+	c.1392G>A	c.(1390-1392)ACG>ACA	p.T464T	FBXW12_uc010hjv.1_Silent_p.T445T|FBXW12_uc003css.1_Silent_p.T394T|FBXW12_uc010hjw.1_Silent_p.T363T	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	464											0														0.329545	143.178624	147.717455	58	118	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	Silent	SNP	48411125	48411125	6002	3	G	A	A	40	40	FBXW12	A	1	1
PLXNB1	5364	broad.mit.edu	36	3	48425849	48425849	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48425849C>T	uc003csv.1	-	c.5979G>A	c.(5977-5979)CCG>CCA	p.P1993P	PLXNB1_uc003cst.1_Silent_p.P443P|PLXNB1_uc003csu.1_Silent_p.P1810P|PLXNB1_uc003csw.1_Silent_p.P1993P|PLXNB1_uc003csx.1_Silent_p.P1993P	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1	1993	Cytoplasmic (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														0.198312	88.602253	108.680075	47	190	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	Silent	SNP	48425849	48425849	12549	3	C	T	T	27	27	PLXNB1	T	1	1
PLXNB1	5364	broad.mit.edu	36	3	48428389	48428389	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48428389G>A	uc003csv.1	-	c.5134C>T	c.(5134-5136)CGA>TGA	p.R1712*	PLXNB1_uc003cst.1_Nonsense_Mutation_p.R162*|PLXNB1_uc003csu.1_Nonsense_Mutation_p.R1529*|PLXNB1_uc003csw.1_Nonsense_Mutation_p.R1712*|PLXNB1_uc003csx.1_Nonsense_Mutation_p.R1712*	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1	1712	Cytoplasmic (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														0.283582	232.178459	246.274309	95	240	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	Nonsense_Mutation	SNP	48428389	48428389	12549	3	G	A	A	37	37	PLXNB1	A	5	1
COL7A1	1294	broad.mit.edu	36	3	48596343	48596343	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48596343C>T	uc003ctz.2	-	c.4272G>A	c.(4270-4272)GGG>GGA	p.G1424G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1424	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(2)	9														0.421875	74.422827	74.761057	27	37	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	Silent	SNP	48596343	48596343	3842	3	C	T	T	26	26	COL7A1	T	2	2
COL7A1	1294	broad.mit.edu	36	3	48606908	48606908	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48606908G>A	uc003ctz.2	-	c.163C>T	c.(163-165)CGC>TGC	p.R55C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	55	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9														0.25	39.730798	43.606406	17	51	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	Missense_Mutation	SNP	48606908	48606908	3842	3	G	A	A	39	39	COL7A1	A	1	1
UQCRC1	7384	broad.mit.edu	36	3	48616006	48616006	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48616006G>A	uc003cuc.1	-	c.701C>T	c.(700-702)GCT>GTT	p.A234V	UQCRC1_uc003cua.1_Missense_Mutation_p.A119V|UQCRC1_uc003cub.1_Missense_Mutation_p.A234V|UQCRC1_uc003cud.1_Missense_Mutation_p.A234V	NM_003365	NP_003356	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	234					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0					Atovaquone(DB01117)	NSCLC(81;1112 1427 27031 32409 45529)								0.245283	33.150223	36.281103	13	40	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Missense_Mutation	SNP	48616006	48616006	17580	3	G	A	A	34	34	UQCRC1	A	2	2
CELSR3	1951	broad.mit.edu	36	3	48657629	48657629	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48657629G>A	uc003cuf.1	-	c.8106C>T	c.(8104-8106)GTC>GTT	p.V2702V	CELSR3_uc010hkf.1_5'Flank|CELSR3_uc010hkg.1_Silent_p.V588V|CELSR3_uc003cul.1_Silent_p.V2605V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2605	Helical; Name=3; (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7														0.307692	29.884253	31.170732	12	27	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	Silent	SNP	48657629	48657629	3356	3	G	A	A	37	37	CELSR3	A	1	1
CELSR3	1951	broad.mit.edu	36	3	48667773	48667773	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48667773C>A	uc003cuf.1	-	c.5010G>T	c.(5008-5010)TGG>TGT	p.W1670C	CELSR3_uc003cul.1_Missense_Mutation_p.W1600C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1600	Extracellular (Potential).|Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7														0.223776	70.52976	80.557765	32	111	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	Missense_Mutation	SNP	48667773	48667773	3356	3	C	A	A	26	26	CELSR3	A	3	3
NCKIPSD	51517	broad.mit.edu	36	3	48691851	48691851	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48691851G>T	uc003cun.1	-	c.1533C>A	c.(1531-1533)GTC>GTA	p.V511V	NCKIPSD_uc003cum.1_Silent_p.V504V	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	511					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0										56				0.243421	78.086767	87.219822	37	115	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	Silent	SNP	48691851	48691851	10624	3	G	T	T	33	33	NCKIPSD	T	3	3
NCKIPSD	51517	broad.mit.edu	36	3	48692269	48692269	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48692269G>T	uc003cun.1	-	c.1319C>A	c.(1318-1320)TCT>TAT	p.S440Y	NCKIPSD_uc003cum.1_Missense_Mutation_p.S433Y	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	440					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0										56				0.211382	47.66507	57.160333	26	97	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	Missense_Mutation	SNP	48692269	48692269	10624	3	G	T	T	33	33	NCKIPSD	T	3	3
P4HTM	54681	broad.mit.edu	36	3	49017484	49017484	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49017484G>A	uc003cvh.1	+	c.1074G>A	c.(1072-1074)CGG>CGA	p.R358R	WDR6_uc003cvj.1_5'Flank|WDR6_uc010hkn.1_5'Flank|P4HTM_uc003cvg.1_Splice_Site_SNP_p.R358_splice	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	358	Lumenal (Potential).|Fe2OG dioxygenase.				oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|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			skin(1)|pancreas(1)	2					Vitamin C(DB00126)									0.607595	287.010086	288.607436	96	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	49017484	49017484	11773	3	G	A	A	42	42	P4HTM	A	2	2
DALRD3	55152	broad.mit.edu	36	3	49029781	49029781	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49029781C>A	uc003cvk.1	-	c.811G>T	c.(811-813)GAT>TAT	p.D271Y	DALRD3_uc003cvl.1_Missense_Mutation_p.D271Y|DALRD3_uc003cvm.1_Missense_Mutation_p.D104Y|DALRD3_uc010hko.1_Missense_Mutation_p.D104Y	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	271					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0														0.268293	145.004825	156.958189	66	180	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Missense_Mutation	SNP	49029781	49029781	4396	3	C	A	A	32	32	DALRD3	A	3	3
QRICH1	54870	broad.mit.edu	36	3	49069494	49069494	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49069494G>T	uc010hkq.1	-	c.1143C>A	c.(1141-1143)AAC>AAA	p.N381K	QRICH1_uc003cvu.1_Missense_Mutation_p.N381K|QRICH1_uc003cvv.1_Missense_Mutation_p.N381K	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	381	Gln-rich.									ovary(1)	1														0.225564	64.240175	73.490067	30	103	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Missense_Mutation	SNP	49069494	49069494	13337	3	G	T	T	36	36	QRICH1	T	3	3
QARS	5859	broad.mit.edu	36	3	49110520	49110520	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49110520T>C	uc003cvx.1	-	c.2186A>G	c.(2185-2187)GAC>GGC	p.D729G	QARS_uc003cvy.1_Missense_Mutation_p.D584G	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	729					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1					L-Glutamine(DB00130)									0.2	105.42007	123.403003	43	172	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	Missense_Mutation	SNP	49110520	49110520	13329	3	T	C	C	58	58	QARS	C	4	4
QARS	5859	broad.mit.edu	36	3	49112079	49112079	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49112079G>T	uc003cvx.1	-	c.1394C>A	c.(1393-1395)TCT>TAT	p.S465Y	QARS_uc003cvy.1_Missense_Mutation_p.S320Y	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	465					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1					L-Glutamine(DB00130)									0.24359	39.679057	44.359819	19	59	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	Missense_Mutation	SNP	49112079	49112079	13329	3	G	T	T	33	33	QARS	T	3	3
USP19	10869	broad.mit.edu	36	3	49128351	49128351	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49128351G>A	uc003cvz.2	-	c.1502C>T	c.(1501-1503)CCG>CTG	p.P501L	USP19_uc003cwa.1_Missense_Mutation_p.P206L|USP19_uc003cwb.1_Missense_Mutation_p.P484L|USP19_uc003cwc.1_Missense_Mutation_p.P156L|USP19_uc003cwd.1_Missense_Mutation_p.P398L	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	398	Cytoplasmic (Potential).				proteasomal ubiquitin-dependent protein catabolic process	endoplasmic reticulum membrane|integral to membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(4)	4														0.266129	83.64008	89.754523	33	91	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	Missense_Mutation	SNP	49128351	49128351	17613	3	G	A	A	39	39	USP19	A	1	1
USP19	10869	broad.mit.edu	36	3	49130103	49130103	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49130103G>A	uc003cvz.2	-	c.463C>T	c.(463-465)CGG>TGG	p.R155W	USP19_uc003cwa.1_5'UTR|USP19_uc003cwb.1_Missense_Mutation_p.R140W|USP19_uc003cwc.1_5'Flank|USP19_uc003cwd.1_Missense_Mutation_p.R155W	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	155	Cytoplasmic (Potential).|CS 1.				proteasomal ubiquitin-dependent protein catabolic process	endoplasmic reticulum membrane|integral to membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(4)	4														0.202703	57.633639	69.737704	30	118	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	Missense_Mutation	SNP	49130103	49130103	17613	3	G	A	A	38	38	USP19	A	1	1
USP19	10869	broad.mit.edu	36	3	49130394	49130394	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49130394C>A	uc003cvz.2	-	c.288G>T	c.(286-288)CAG>CAT	p.Q96H	USP19_uc003cwa.1_5'UTR|USP19_uc003cwb.1_Missense_Mutation_p.Q96H|USP19_uc003cwc.1_5'Flank|USP19_uc003cwd.1_Missense_Mutation_p.Q96H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	96	Cytoplasmic (Potential).				proteasomal ubiquitin-dependent protein catabolic process	endoplasmic reticulum membrane|integral to membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(4)	4														0.194805	54.451769	67.842497	30	124	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	Missense_Mutation	SNP	49130394	49130394	17613	3	C	A	A	32	32	USP19	A	3	3
LAMB2	3913	broad.mit.edu	36	3	49136417	49136417	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49136417C>T	uc003cwe.1	-	c.3545G>A	c.(3544-3546)GGA>GAA	p.G1182E		NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1182	Laminin EGF-like 13.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3														0.369565	40.114687	40.819676	17	29	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	Missense_Mutation	SNP	49136417	49136417	8934	3	C	T	T	30	30	LAMB2	T	2	2
USP4	7375	broad.mit.edu	36	3	49312956	49312956	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49312956C>T	uc003cwq.1	-	c.1460G>A	c.(1459-1461)CGA>CAA	p.R487Q	USP4_uc003cwo.1_Missense_Mutation_p.R199Q|USP4_uc003cwp.1_Missense_Mutation_p.R217Q|USP4_uc003cwr.1_Missense_Mutation_p.R440Q	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	487					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)	3		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)												0.262712	72.067276	78.081044	31	87	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	Missense_Mutation	SNP	49312956	49312956	17635	3	C	T	T	31	31	USP4	T	1	1
RHOA	387	broad.mit.edu	36	3	49380940	49380940	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49380940G>A	uc003cwu.1	-	c.202C>T	c.(202-204)CGC>TGC	p.R68C	RHOA_uc010hku.1_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A	68					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2					Atorvastatin(DB01076)|Simvastatin(DB00641)					86				0.358824	163.324338	166.309113	61	109	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Missense_Mutation	SNP	49380940	49380940	13806	3	G	A	A	37	37	RHOA	A	1	1
AMT	275	broad.mit.edu	36	3	49434010	49434010	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49434010C>T	uc003cww.1	-	c.259_splice	c.e3-1	p.T87_splice	AMT_uc003cwy.1_Splice_Site_SNP_p.T39_splice|AMT_uc003cwx.2_Splice_Site_SNP_p.T87_splice	NM_000481	NP_000472			aminomethyltransferase						glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1					NADH(DB00157)|Tetrahydrofolic acid(DB00116)									0.188525	48.359398	59.432573	23	99	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Splice_Site_SNP	SNP	49434010	49434010	592	3	C	T	T	32	32	AMT	T	5	2
NICN1	84276	broad.mit.edu	36	3	49437398	49437398	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49437398G>A	uc003cwz.1	-	c.588C>T	c.(586-588)ATC>ATT	p.I196I	AMT_uc003cww.1_5'Flank|AMT_uc003cwy.1_5'Flank|AMT_uc003cwx.2_5'Flank|NICN1_uc003cxa.2_Non-coding_Transcript	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	nicolin 1	196						microtubule|nucleus					0														0.259259	66.249029	71.919627	28	80	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Silent	SNP	49437398	49437398	10814	3	G	A	A	37	37	NICN1	A	1	1
DAG1	1605	broad.mit.edu	36	3	49523191	49523191	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49523191G>A	uc003cxc.2	+	c.220G>A	c.(220-222)GTC>ATC	p.V74I		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	74	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2														0.383562	72.479341	73.347953	28	45	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Missense_Mutation	SNP	49523191	49523191	4392	3	G	A	A	40	40	DAG1	A	1	1
BSN	8927	broad.mit.edu	36	3	49666367	49666367	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49666367C>T	uc003cxe.2	+	c.4374C>T	c.(4372-4374)GAC>GAT	p.D1458D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1458					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.374046	253.285889	256.933508	98	164	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	Silent	SNP	49666367	49666367	1561	3	C	T	T	19	19	BSN	T	1	1
BSN	8927	broad.mit.edu	36	3	49667140	49667140	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49667140T>C	uc003cxe.2	+	c.5147T>C	c.(5146-5148)ATC>ACC	p.I1716T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1716					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.274238	271.797807	288.354639	99	262	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	Missense_Mutation	SNP	49667140	49667140	1561	3	T	C	C	50	50	BSN	C	4	4
BSN	8927	broad.mit.edu	36	3	49670093	49670093	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49670093C>T	uc003cxe.2	+	c.8100C>T	c.(8098-8100)ATC>ATT	p.I2700I		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2700					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.307692	107.849131	112.562601	44	99	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	Silent	SNP	49670093	49670093	1561	3	C	T	T	31	31	BSN	T	1	1
BSN	8927	broad.mit.edu	36	3	49673579	49673579	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49673579T>G	uc003cxe.2	+	c.9297T>G	c.(9295-9297)AGT>AGG	p.S3099R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3099					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.310811	65.802579	68.159038	23	51	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	Missense_Mutation	SNP	49673579	49673579	1561	3	T	G	G	60	60	BSN	G	4	4
RNF123	63891	broad.mit.edu	36	3	49726599	49726599	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49726599C>T	uc003cxh.1	+	c.2998C>T	c.(2998-3000)CCC>TCC	p.P1000S	RNF123_uc003cxi.1_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	1000						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)	6														0.382353	103.499249	104.736481	39	63	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	Missense_Mutation	SNP	49726599	49726599	13910	3	C	T	T	26	26	RNF123	T	2	2
AMIGO3	386724	broad.mit.edu	36	3	49731207	49731207	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49731207C>T	uc003cxj.1	-	c.696G>A	c.(694-696)CAG>CAA	p.Q232Q	RNF123_uc003cxh.1_Intron|RNF123_uc003cxi.1_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	232	Extracellular (Potential).|LRRCT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1														0.3	76.607678	80.183647	30	70	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Silent	SNP	49731207	49731207	580	3	C	T	T	28	28	AMIGO3	T	2	2
AMIGO3	386724	broad.mit.edu	36	3	49731573	49731573	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49731573G>T	uc003cxj.1	-	c.330C>A	c.(328-330)GGC>GGA	p.G110G	RNF123_uc003cxh.1_Intron|RNF123_uc003cxi.1_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	110	Extracellular (Potential).|LRR 3.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1												OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.252874	96.105541	105.766604	44	130	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Silent	SNP	49731573	49731573	580	3	G	T	T	42	42	AMIGO3	T	3	3
UBA7	7318	broad.mit.edu	36	3	49820344	49820344	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49820344C>T	uc003cxr.1	-	c.2544G>A	c.(2542-2544)CAG>CAA	p.Q848Q		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	848					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2														0.257576	44.041796	47.558902	17	49	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Silent	SNP	49820344	49820344	17390	3	C	T	T	32	32	UBA7	T	2	2
UBA7	7318	broad.mit.edu	36	3	49822851	49822851	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49822851C>A	uc003cxr.1	-	c.1482G>T	c.(1480-1482)GAG>GAT	p.E494D		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	494	1-2.|2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2														0.191964	77.976989	97.852162	43	181	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Missense_Mutation	SNP	49822851	49822851	17390	3	C	A	A	24	24	UBA7	A	3	3
CAMKV	79012	broad.mit.edu	36	3	49873399	49873399	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49873399C>T	uc003cxt.1	-	c.619G>A	c.(619-621)GGA>AGA	p.G207R	CAMKV_uc003cxu.1_Missense_Mutation_p.G207R|CAMKV_uc003cxv.1_Intron|CAMKV_uc003cxw.1_Missense_Mutation_p.G39R|CAMKV_uc003cxx.1_Missense_Mutation_p.G39R	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	207	Protein kinase.				protein phosphorylation	cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7										82				0.275362	92.882998	99.159497	38	100	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Missense_Mutation	SNP	49873399	49873399	2725	3	C	T	T	21	21	CAMKV	T	2	2
CAMKV	79012	broad.mit.edu	36	3	49874574	49874574	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49874574C>T	uc003cxt.1	-	c.135G>A	c.(133-135)ACG>ACA	p.T45T	CAMKV_uc003cxu.1_Silent_p.T45T|CAMKV_uc003cxv.1_Silent_p.T45T|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	45	Protein kinase.				protein phosphorylation	cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7										82				0.369048	82.90339	84.169007	31	53	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Silent	SNP	49874574	49874574	2725	3	C	T	T	31	31	CAMKV	T	1	1
MST1R	4486	broad.mit.edu	36	3	49915666	49915666	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49915666G>A	uc003cxy.2	-	c.381C>T	c.(379-381)CCC>CCT	p.P127P		NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	127	Extracellular (Potential).|Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|protein phosphorylation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6										205				0.147727	34.97411	55.849399	26	150	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	Silent	SNP	49915666	49915666	10284	3	G	A	A	39	39	MST1R	A	1	1
MON1A	84315	broad.mit.edu	36	3	49922706	49922706	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49922706C>T	uc003cxz.1	-	c.1229G>A	c.(1228-1230)CGC>CAC	p.R410H	MON1A_uc003cya.1_Missense_Mutation_p.R248H|MON1A_uc003cyb.1_Missense_Mutation_p.R248H	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	410							protein binding			ovary(2)	2														0.222222	32.116115	37.191107	16	56	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Missense_Mutation	SNP	49922706	49922706	10089	3	C	T	T	27	27	MON1A	T	1	1
BHLHE40	8553	broad.mit.edu	36	3	4998172	4998172	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:4998172C>T	uc003bqf.1	+	c.354C>T	c.(352-354)ATC>ATT	p.I118I		NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	118						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.282648	381.054959	404.820813	158	401	CC		KEEP	---	---	---	---	capture			Silent	SNP	4998172	4998172	1448	3	C	T	T	29	29	BHLHE40	T	2	2
SLC38A3	10991	broad.mit.edu	36	3	50232322	50232322	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50232322A>G	uc003cyn.2	+	c.1312A>G	c.(1312-1314)ACA>GCA	p.T438A		NM_006841	NP_006832	Q99624	S38A3_HUMAN	solute carrier family 38, member 3	438	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1					L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)									0.25	8.492303	9.401842	4	12	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	Missense_Mutation	SNP	50232322	50232322	15102	3	A	G	G	6	6	SLC38A3	G	4	4
SEMA3B	7869	broad.mit.edu	36	3	50286415	50286415	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50286415C>T	uc003cyu.1	+	c.1060C>T	c.(1060-1062)CCC>TCC	p.P354S	SEMA3B_uc003cyt.1_Missense_Mutation_p.P353S|SEMA3B_uc003cyv.1_Missense_Mutation_p.P241S|SEMA3B_uc003cyw.1_Missense_Mutation_p.P77S|SEMA3B_uc010hli.1_Missense_Mutation_p.P246S|SEMA3B_uc003cyx.1_Missense_Mutation_p.P240S|SEMA3B_uc003cyy.1_Missense_Mutation_p.P11S	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	354	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6										72		OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.350427	104.531807	106.844502	41	76	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Missense_Mutation	SNP	50286415	50286415	14511	3	C	T	T	18	18	SEMA3B	T	2	2
IFRD2	7866	broad.mit.edu	36	3	50301119	50301119	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50301119G>A	uc003czb.1	-	c.1549C>T	c.(1549-1551)CGC>TGC	p.R517C	IFRD2_uc003cza.1_Missense_Mutation_p.R351C	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	415							binding			ovary(1)|lung(1)	2														0.255814	24.718033	27.035265	11	32	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Missense_Mutation	SNP	50301119	50301119	7855	3	G	A	A	38	38	IFRD2	A	1	1
HYAL3	8372	broad.mit.edu	36	3	50308020	50308020	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50308020G>A	uc003czd.1	-	c.18C>T	c.(16-18)GGC>GGT	p.G6G	IFRD2_uc003czb.1_5'Flank|HYAL3_uc003czc.1_Silent_p.G6G|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Silent_p.G6G	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	6					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1														0.214286	24.569028	28.791732	12	44	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Silent	SNP	50308020	50308020	7765	3	G	A	A	42	42	HYAL3	A	2	2
HYAL2	8692	broad.mit.edu	36	3	50332781	50332781	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50332781G>A	uc003czu.1	-	c.144C>T	c.(142-144)GGC>GGT	p.G48G	HYAL2_uc003czv.1_Silent_p.G48G|HYAL2_uc003czw.1_Silent_p.G48G|HYAL2_uc003czx.1_Silent_p.G48G|HYAL2_uc010hlj.1_Silent_p.G48G	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	48						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1					Hyaluronidase(DB00070)									0.581395	71.20235	71.461045	25	18	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Silent	SNP	50332781	50332781	7764	3	G	A	A	42	42	HYAL2	A	2	2
CACNA2D2	9254	broad.mit.edu	36	3	50391411	50391411	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50391411G>T	uc003daq.1	-	c.1278C>A	c.(1276-1278)TTC>TTA	p.F426L	CACNA2D2_uc003dap.1_Missense_Mutation_p.F426L	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	426	VWFA.|Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1					Gabapentin(DB00996)									0.552	192.871525	193.164738	69	56	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Missense_Mutation	SNP	50391411	50391411	2665	3	G	T	T	33	33	CACNA2D2	T	3	3
CACNA2D2	9254	broad.mit.edu	36	3	50446814	50446814	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50446814C>T	uc003daq.1	-	c.339G>A	c.(337-339)CAG>CAA	p.Q113Q	CACNA2D2_uc003dap.1_Silent_p.Q113Q	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	113	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1					Gabapentin(DB00996)									0.244898	116.195534	127.821272	48	148	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Silent	SNP	50446814	50446814	2665	3	C	T	T	32	32	CACNA2D2	T	2	2
DOCK3	1795	broad.mit.edu	36	3	51221324	51221324	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51221324G>A	uc003dbb.1	+	c.1117G>A	c.(1117-1119)GCC>ACC	p.A373T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	373						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0										1034				0.272727	16.651196	18.195413	9	24	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	Missense_Mutation	SNP	51221324	51221324	4872	3	G	A	A	38	38	DOCK3	A	1	1
DOCK3	1795	broad.mit.edu	36	3	51226688	51226688	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51226688A>C	uc003dbb.1	+	c.1222A>C	c.(1222-1224)AAA>CAA	p.K408Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	408						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0										1034				0.309524	39.861613	41.218013	13	29	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	Missense_Mutation	SNP	51226688	51226688	4872	3	A	C	C	1	1	DOCK3	C	4	4
DOCK3	1795	broad.mit.edu	36	3	51290167	51290167	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51290167C>T	uc003dbb.1	+	c.2765C>T	c.(2764-2766)TCG>TTG	p.S922L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	922						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0										1034				0.540541	56.596979	56.6495	20	17	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	Missense_Mutation	SNP	51290167	51290167	4872	3	C	T	T	31	31	DOCK3	T	1	1
DOCK3	1795	broad.mit.edu	36	3	51362758	51362758	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51362758G>A	uc003dbb.1	+	c.4003_splice	c.e39-1	p.K1335_splice		NM_004947	NP_004938			dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0										1034				0.576271	436.522474	437.717607	136	100	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	Splice_Site_SNP	SNP	51362758	51362758	4872	3	G	A	A	33	33	DOCK3	A	5	2
DOCK3	1795	broad.mit.edu	36	3	51388257	51388257	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51388257C>T	uc003dbb.1	+	c.5451C>T	c.(5449-5451)GTC>GTT	p.V1817V		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1817						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0									p.V1817V(WM115-Tumor)|p.V1817V(WM2664-Tumor)	1034				0.477064	294.605757	294.703027	104	114	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	Silent	SNP	51388257	51388257	4872	3	C	T	T	31	31	DOCK3	T	1	1
DOCK3	1795	broad.mit.edu	36	3	51393765	51393765	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51393765C>T	uc003dbb.1	+	c.5828C>T	c.(5827-5829)GCC>GTC	p.A1943V		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1943						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0										1034				0.240602	68.431084	76.602169	32	101	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	Missense_Mutation	SNP	51393765	51393765	4872	3	C	T	T	26	26	DOCK3	T	2	2
VPRBP	9730	broad.mit.edu	36	3	51432246	51432246	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51432246C>A	uc003dbe.1	-	c.3218G>T	c.(3217-3219)AGG>ATG	p.R1073M	VPRBP_uc003dbf.1_Missense_Mutation_p.R349M	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	1073					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2														0.33125	134.816562	138.856011	53	107	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	Missense_Mutation	SNP	51432246	51432246	17752	3	C	A	A	24	24	VPRBP	A	3	3
VPRBP	9730	broad.mit.edu	36	3	51439967	51439967	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51439967C>T	uc003dbe.1	-	c.1743G>A	c.(1741-1743)GCG>GCA	p.A581A		NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	581					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2														0.444444	55.19239	55.313484	20	25	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	Silent	SNP	51439967	51439967	17752	3	C	T	T	27	27	VPRBP	T	1	1
RAD54L2	23132	broad.mit.edu	36	3	51648572	51648572	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51648572C>T	uc003dbi.2	+	c.1634C>T	c.(1633-1635)ACC>ATC	p.T545I	RAD54L2_uc003dbh.1_Missense_Mutation_p.T244I|RAD54L2_uc003dbj.1_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	653						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3														0.59	178.634074	179.340805	59	41	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	Missense_Mutation	SNP	51648572	51648572	13454	3	C	T	T	18	18	RAD54L2	T	2	2
GRM2	2912	broad.mit.edu	36	3	51721626	51721626	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51721626G>A	uc010hlv.1	+	c.548G>A	c.(547-549)CGC>CAC	p.R183H	GRM2_uc010hlu.1_Non-coding_Transcript|GRM2_uc003dbo.2_Intron|GRM2_uc003dbp.1_Missense_Mutation_p.R183H	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	183	Extracellular (Potential).				synaptic transmission	integral to plasma membrane					0					Acamprosate(DB00659)|Nicotine(DB00184)									0.326613	201.489666	208.103398	81	167	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Missense_Mutation	SNP	51721626	51721626	7076	3	G	A	A	38	38	GRM2	A	1	1
IQCF1	132141	broad.mit.edu	36	3	51904386	51904386	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51904386C>A	uc003dbv.1	-	c.178G>T	c.(178-180)GAA>TAA	p.E60*	IQCF1_uc003dbq.2_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	60										ovary(1)	1														0.603774	181.39807	182.392554	64	42	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Nonsense_Mutation	SNP	51904386	51904386	8108	3	C	A	A	32	32	IQCF1	A	5	3
IQCF1	132141	broad.mit.edu	36	3	51912109	51912109	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51912109T>C	uc003dbv.1	-	c.40A>G	c.(40-42)AAA>GAA	p.K14E	IQCF1_uc003dbq.2_Non-coding_Transcript	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	14										ovary(1)	1														0.288854	575.475552	600.91272	184	453	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Missense_Mutation	SNP	51912109	51912109	8108	3	T	C	C	64	64	IQCF1	C	4	4
RRP9	9136	broad.mit.edu	36	3	51950473	51950473	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51950473C>A	uc003dbw.1	-	c.162G>T	c.(160-162)GAG>GAT	p.E54D	PARP3_uc003dbx.1_5'Flank|PARP3_uc003dby.1_5'Flank|PARP3_uc003dbz.1_5'Flank	NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	54	Glu-rich.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3														0.243478	117.462752	131.279274	56	174	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	Missense_Mutation	SNP	51950473	51950473	14171	3	C	A	A	32	32	RRP9	A	3	3
PARP3	10039	broad.mit.edu	36	3	51956903	51956903	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51956903C>T	uc003dbz.1	+	c.1405C>T	c.(1405-1407)CCA>TCA	p.P469S	PARP3_uc003dbx.1_Missense_Mutation_p.P462S|PARP3_uc003dby.1_Missense_Mutation_p.P462S	NM_001003931	NP_001003931	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	462	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1														0.467857	396.500237	396.749955	131	149	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Missense_Mutation	SNP	51956903	51956903	11879	3	C	T	T	22	22	PARP3	T	2	2
GPR62	118442	broad.mit.edu	36	3	51965620	51965620	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51965620C>T	uc003dca.2	+	c.912C>T	c.(910-912)CTC>CTT	p.L304L		NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	304	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.4	27.943733	28.162712	10	15	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Silent	SNP	51965620	51965620	6978	3	C	T	T	32	32	GPR62	T	2	2
ABHD14A	25864	broad.mit.edu	36	3	51987067	51987067	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51987067C>T	uc003dco.1	+	c.210C>T	c.(208-210)GTC>GTT	p.V70V	ABHD14B_uc003dcn.1_Intron|ABHD14A_uc010hlz.1_Silent_p.V70V	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	70						cytoplasm|integral to membrane	hydrolase activity				0														0.234177	81.397662	91.617423	37	121	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Silent	SNP	51987067	51987067	80	3	C	T	T	30	30	ABHD14A	T	2	2
DUSP7	1849	broad.mit.edu	36	3	52059919	52059919	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52059919C>T	uc003dct.1	-	c.1059G>A	c.(1057-1059)ACG>ACA	p.T353T		NM_001947	NP_001938	Q16829	DUS7_HUMAN	dual specificity phosphatase 7	353					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			ovary(1)	1														0.213333	25.660083	31.366825	16	59	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Silent	SNP	52059919	52059919	5015	3	C	T	T	27	27	DUSP7	T	1	1
POC1A	25886	broad.mit.edu	36	3	52156127	52156127	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52156127G>A	uc003dcu.1	-	c.480C>T	c.(478-480)ATC>ATT	p.I160I	POC1A_uc003dcv.1_Silent_p.I122I|POC1A_uc003dcw.1_Silent_p.I160I	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A	160	WD 4.					centriole|microtubule basal body					0														0.213592	45.019344	52.807261	22	81	GG		KEEP	---	---	---	---	capture			Silent	SNP	52156127	52156127	12603	3	G	A	A	37	37	POC1A	A	1	1
ALAS1	211	broad.mit.edu	36	3	52213777	52213777	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52213777C>A	uc003dcy.1	+	c.606C>A	c.(604-606)TTC>TTA	p.F202L	ALAS1_uc003dcz.1_Missense_Mutation_p.F202L	NM_000688	NP_954635	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1	202					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.238095	42.850815	48.120421	20	64	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Missense_Mutation	SNP	52213777	52213777	487	3	C	A	A	32	32	ALAS1	A	3	3
EDEM1	9695	broad.mit.edu	36	3	5221833	5221833	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:5221833A>G	uc003bqi.1	+	c.1124A>G	c.(1123-1125)TAC>TGC	p.Y375C	EDEM1_uc003bqh.1_Missense_Mutation_p.Y375C	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	375	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3														0.509615	361.276378	361.293939	106	102	AA		KEEP	---	---	---	---	capture		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	Missense_Mutation	SNP	5221833	5221833	5098	3	A	G	G	14	14	EDEM1	G	4	4
TLR9	54106	broad.mit.edu	36	3	52232603	52232603	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52232603G>A	uc003ddb.1	-	c.874C>T	c.(874-876)CGC>TGC	p.R292C	TLR9_uc003dda.1_Missense_Mutation_p.R257C	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	257	LRR 8.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(1)	3					Chloroquine(DB00608)					82				0.589286	103.581888	103.971532	33	23	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Missense_Mutation	SNP	52232603	52232603	16488	3	G	A	A	39	39	TLR9	A	1	1
GLYCTK	132158	broad.mit.edu	36	3	52300919	52300919	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52300919C>T	uc003ddo.1	+	c.646C>T	c.(646-648)CGG>TGG	p.R216W	GLYCTK_uc003ddm.1_Non-coding_Transcript|GLYCTK_uc003ddn.1_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.R216W|GLYCTK_uc003ddq.1_Intron|GLYCTK_uc003ddr.1_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	216					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0												OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.19598	77.003875	94.155678	39	160	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	52300919	52300919	6751	3	C	T	T	31	31	GLYCTK	T	1	1
GLYCTK	132158	broad.mit.edu	36	3	52301406	52301406	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52301406G>T	uc003ddo.1	+	c.796G>T	c.(796-798)GAT>TAT	p.D266Y	GLYCTK_uc003ddm.1_Non-coding_Transcript|GLYCTK_uc003ddn.1_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.D266Y|GLYCTK_uc003ddq.1_Missense_Mutation_p.R207I|GLYCTK_uc003ddr.1_5'UTR	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	266					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0														0.235294	47.236842	53.78521	24	78	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	52301406	52301406	6751	3	G	T	T	33	33	GLYCTK	T	3	3
DNAH1	25981	broad.mit.edu	36	3	52335303	52335303	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52335303G>A	uc003dds.1	+	c.514G>A	c.(514-516)GAG>AAG	p.E172K	DNAH1_uc003ddt.1_Missense_Mutation_p.E172K	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	172	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														0.355556	41.687724	42.514692	16	29	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	52335303	52335303	4779	3	G	A	A	37	37	DNAH1	A	1	1
DNAH1	25981	broad.mit.edu	36	3	52341426	52341426	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52341426C>T	uc003dds.1	+	c.1262C>T	c.(1261-1263)ACG>ATG	p.T421M	DNAH1_uc003ddt.1_Missense_Mutation_p.T421M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	421	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														0.1375	13.473669	23.645305	11	69	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	52341426	52341426	4779	3	C	T	T	19	19	DNAH1	T	1	1
DNAH1	25981	broad.mit.edu	36	3	52392983	52392983	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52392983G>A	uc003dds.1	+	c.8218G>A	c.(8218-8220)GAC>AAC	p.D2740N	DNAH1_uc003ddu.1_Non-coding_Transcript|DNAH1_uc003ddv.1_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2740	AAA 4 (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														0.619048	76.554027	77.07522	26	16	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	52392983	52392983	4779	3	G	A	A	37	37	DNAH1	A	1	1
DNAH1	25981	broad.mit.edu	36	3	52398603	52398603	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52398603C>T	uc003dds.1	+	c.9777C>T	c.(9775-9777)ATC>ATT	p.I3259I	DNAH1_uc003ddu.1_Non-coding_Transcript|DNAH1_uc003ddv.1_Silent_p.I52I	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3259					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														0.666667	11.801528	11.949351	4	2	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	52398603	52398603	4779	3	C	T	T	31	31	DNAH1	T	1	1
BAP1	8314	broad.mit.edu	36	3	52416502	52416502	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52416502C>T	uc003ddx.1	-	c.390G>A	c.(388-390)GCG>GCA	p.A130A	BAP1_uc010hmh.1_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	130					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(2)		eye(28)|lung(2)|ovary(1)|breast(1)	32						GBM(101;493 1458 7992 21037 25532)				294				0.565934	305.434649	306.123097	103	79	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	Silent	SNP	52416502	52416502	1332	3	C	T	T	31	31	BAP1	T	1	1
BAP1	8314	broad.mit.edu	36	3	52418657	52418657	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52418657C>A	uc003ddx.1	-	c.75G>T	c.(73-75)AAG>AAT	p.K25N	PHF7_uc003ddy.1_5'Flank|PHF7_uc003ddz.1_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	25					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			eye(28)|lung(2)|ovary(1)|breast(1)	32						GBM(101;493 1458 7992 21037 25532)				294				0.229287	249.045508	283.941389	119	400	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	Missense_Mutation	SNP	52418657	52418657	1332	3	C	A	A	24	24	BAP1	A	3	3
PHF7	51533	broad.mit.edu	36	3	52431832	52431832	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52431832C>A	uc003ddy.1	+	c.814C>A	c.(814-816)CTG>ATG	p.L272M	PHF7_uc003ddz.1_Missense_Mutation_p.L233M	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	PHD finger protein 7 isoform 1	272						nucleus	zinc ion binding			breast(1)	1														0.273973	135.382938	145.479266	60	159	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	Missense_Mutation	SNP	52431832	52431832	12262	3	C	A	A	32	32	PHF7	A	3	3
SEMA3G	56920	broad.mit.edu	36	3	52451634	52451634	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52451634C>T	uc003dea.1	-	c.320G>A	c.(319-321)CGA>CAA	p.R107Q		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2	107	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2														0.506494	112.925491	112.928389	39	38	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	52451634	52451634	14516	3	C	T	T	31	31	SEMA3G	T	1	1
TNNC1	7134	broad.mit.edu	36	3	52460855	52460855	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52460855C>T	uc003deb.1	-	c.262G>A	c.(262-264)GAC>AAC	p.D88N		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	88					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0					Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)									0.495935	176.464455	176.466289	61	62	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Missense_Mutation	SNP	52460855	52460855	16865	3	C	T	T	31	31	TNNC1	T	1	1
NISCH	11188	broad.mit.edu	36	3	52496952	52496952	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52496952G>A	uc003ded.2	+	c.2404G>A	c.(2404-2406)GAG>AAG	p.E802K	NISCH_uc003dee.2_Missense_Mutation_p.E291K|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	802	Interaction with LIMK (By similarity).|Interaction with ITGA5 (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4														0.492308	92.09414	92.097549	32	33	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Missense_Mutation	SNP	52496952	52496952	10833	3	G	A	A	37	37	NISCH	A	1	1
NISCH	11188	broad.mit.edu	36	3	52500932	52500932	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52500932G>T	uc003ded.2	+	c.3909G>T	c.(3907-3909)AAG>AAT	p.K1303N	NISCH_uc003dee.2_Missense_Mutation_p.K792N|NISCH_uc003deg.1_Non-coding_Transcript|NISCH_uc003deh.2_Missense_Mutation_p.K52N	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1303					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4														0.284091	109.960752	117.340184	50	126	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Missense_Mutation	SNP	52500932	52500932	10833	3	G	T	T	33	33	NISCH	T	3	3
NT5DC2	64943	broad.mit.edu	36	3	52537256	52537256	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52537256G>T	uc003deo.1	-	c.643C>A	c.(643-645)CTC>ATC	p.L215I	NT5DC2_uc003dem.1_Missense_Mutation_p.L85I|NT5DC2_uc003den.1_Missense_Mutation_p.L181I|NT5DC2_uc010hmi.1_Missense_Mutation_p.L156I|NT5DC2_uc010hmj.1_Missense_Mutation_p.L31I	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	215							hydrolase activity|metal ion binding				0														0.552147	251.936982	252.319667	90	73	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	Missense_Mutation	SNP	52537256	52537256	11096	3	G	T	T	33	33	NT5DC2	T	3	3
NT5DC2	64943	broad.mit.edu	36	3	52538218	52538218	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52538218G>A	uc003deo.1	-	c.294C>T	c.(292-294)ATC>ATT	p.I98I	NT5DC2_uc003dem.1_5'Flank|NT5DC2_uc003den.1_Silent_p.I64I|NT5DC2_uc010hmi.1_Silent_p.I64I|NT5DC2_uc010hmj.1_5'UTR	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	98							hydrolase activity|metal ion binding				0														0.462366	122.814826	122.929429	43	50	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	Silent	SNP	52538218	52538218	11096	3	G	A	A	37	37	NT5DC2	A	1	1
GLT8D1	55830	broad.mit.edu	36	3	52706958	52706958	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52706958A>C	uc003dfi.2	-	c.148T>G	c.(148-150)TTT>GTT	p.F50V	GLT8D1_uc003dfj.1_Missense_Mutation_p.F50V|GLT8D1_uc003dfk.1_Missense_Mutation_p.F50V|GLT8D1_uc003dfl.1_Missense_Mutation_p.F50V|GLT8D1_uc003dfm.1_Missense_Mutation_p.F50V|GLT8D1_uc003dfn.1_Missense_Mutation_p.F50V|GLT8D1_uc003dfo.1_Missense_Mutation_p.F50V	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	50	Lumenal (Potential).			F -> C (in Ref. 7; AAQ13652).		integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0														0.25	67.812862	74.409279	29	87	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	Missense_Mutation	SNP	52706958	52706958	6737	3	A	C	C	3	3	GLT8D1	C	4	4
ITIH1	3697	broad.mit.edu	36	3	52788531	52788531	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52788531G>A	uc003dfs.2	+	c.454G>A	c.(454-456)GTC>ATC	p.V152I	ITIH1_uc010hmn.1_Non-coding_Transcript	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	152	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3														0.285714	73.105236	77.43319	30	75	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	Missense_Mutation	SNP	52788531	52788531	8207	3	G	A	A	40	40	ITIH1	A	1	1
ITIH1	3697	broad.mit.edu	36	3	52791113	52791113	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52791113G>A	uc003dfs.2	+	c.805G>A	c.(805-807)GAC>AAC	p.D269N	ITIH1_uc010hmn.1_Non-coding_Transcript|ITIH1_uc003dft.2_5'Flank|ITIH1_uc010hmo.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	269					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3														0.620879	338.495871	340.826108	113	69	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	Missense_Mutation	SNP	52791113	52791113	8207	3	G	A	A	37	37	ITIH1	A	1	1
ITIH4	3700	broad.mit.edu	36	3	52826071	52826071	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52826071G>T	uc003dfz.1	-	c.2340C>A	c.(2338-2340)TTC>TTA	p.F780L	ITIH4_uc003dfx.1_Missense_Mutation_p.F494L|ITIH4_uc003dfy.1_Missense_Mutation_p.F575L	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	780					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2														0.226244	95.917403	111.147111	50	171	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	Missense_Mutation	SNP	52826071	52826071	8210	3	G	T	T	33	33	ITIH4	T	3	3
ITIH4	3700	broad.mit.edu	36	3	52834975	52834975	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52834975A>G	uc003dfz.1	-	c.726T>C	c.(724-726)GAT>GAC	p.D242D	ITIH4_uc003dfx.1_5'Flank|ITIH4_uc003dfy.1_Silent_p.D106D	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	242					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2														0.410853	157.45726	158.350676	53	76	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	Silent	SNP	52834975	52834975	8210	3	A	G	G	8	8	ITIH4	G	4	4
SFMBT1	51460	broad.mit.edu	36	3	52935141	52935141	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52935141A>C	uc003dgf.1	-	c.1077T>G	c.(1075-1077)GCT>GCG	p.A359A	SFMBT1_uc003dgg.1_Silent_p.A359A|SFMBT1_uc003dgh.1_Silent_p.A359A|SFMBT1_uc010hmr.1_Silent_p.A306A	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	359	MBT 4.					nucleus				ovary(1)	1														0.253623	167.210914	182.428057	70	206	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	Silent	SNP	52935141	52935141	14646	3	A	C	C	7	7	SFMBT1	C	4	4
PRKCD	5580	broad.mit.edu	36	3	53190562	53190562	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53190562G>T	uc003dgl.1	+	c.439G>T	c.(439-441)GCC>TCC	p.A147S	PRKCD_uc003dgm.1_Missense_Mutation_p.A147S|PRKCD_uc003dgn.1_Missense_Mutation_p.A97S|PRKCD_uc010hmt.1_5'Flank	NM_006254	NP_997704	Q05655	KPCD_HUMAN	protein kinase C, delta	147					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|protein phosphorylation|protein stabilization|regulation of receptor activity	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(1)	5		Ovarian(412;0.0728)								215				0.3	79.122023	83.059649	33	77	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Missense_Mutation	SNP	53190562	53190562	12952	3	G	T	T	34	34	PRKCD	T	3	3
PRKCD	5580	broad.mit.edu	36	3	53198225	53198225	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53198225C>T	uc003dgl.1	+	c.1666C>T	c.(1666-1668)CTC>TTC	p.L556F	PRKCD_uc003dgm.1_Missense_Mutation_p.L556F	NM_006254	NP_997704	Q05655	KPCD_HUMAN	protein kinase C, delta	556	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|protein phosphorylation|protein stabilization|regulation of receptor activity	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(1)	5		Ovarian(412;0.0728)								215				0.189655	22.3953	27.620419	11	47	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Missense_Mutation	SNP	53198225	53198225	12952	3	C	T	T	20	20	PRKCD	T	2	2
TKT	7086	broad.mit.edu	36	3	53237407	53237407	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53237407G>A	uc003dgo.1	-	c.1404C>T	c.(1402-1404)TGC>TGT	p.C468C	TKT_uc003dgp.1_Silent_p.C100C|TKT_uc003dgq.1_Silent_p.C468C	NM_001064	NP_001055	P29401	TKT_HUMAN	transketolase isoform 1	468					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		Prostate(884;0.0959)			Thiamine(DB00152)	Colon(133;1506 2347 35238 42177)								0.258741	88.011407	95.551038	37	106	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Silent	SNP	53237407	53237407	16463	3	G	A	A	34	34	TKT	A	2	2
DCP1A	55802	broad.mit.edu	36	3	53351300	53351300	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53351300C>T	uc003dgs.2	-	c.215G>A	c.(214-216)CGA>CAA	p.R72Q	DCP1A_uc003dgt.2_Non-coding_Transcript	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	72					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding				0														0.228571	17.78159	20.147332	8	27	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	Missense_Mutation	SNP	53351300	53351300	4469	3	C	T	T	31	31	DCP1A	T	1	1
CACNA1D	776	broad.mit.edu	36	3	53711872	53711872	+	Missense_Mutation	SNP	G	A	A	rs35057005	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53711872G>A	uc003dgu.2	+	c.1385G>A	c.(1384-1386)CGA>CAA	p.R462Q	CACNA1D_uc003dgv.2_Missense_Mutation_p.R462Q|CACNA1D_uc003dgy.2_Missense_Mutation_p.R462Q|CACNA1D_uc003dgw.2_Missense_Mutation_p.R109Q	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	462	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|liver(1)	7					Verapamil(DB00661)									0.477612	91.603131	91.631591	32	35	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	53711872	53711872	2657	3	G	A	A	37	37	CACNA1D	A	1	1
CACNA1D	776	broad.mit.edu	36	3	53731412	53731412	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53731412C>T	uc003dgu.2	+	c.1597C>T	c.(1597-1599)CGC>TGC	p.R533C	CACNA1D_uc003dgv.2_Missense_Mutation_p.R513C|CACNA1D_uc003dgy.2_Missense_Mutation_p.R513C|CACNA1D_uc003dgw.2_Missense_Mutation_p.R180C	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	513	Cytoplasmic (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|liver(1)	7					Verapamil(DB00661)									0.464	158.226577	158.368338	58	67	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	53731412	53731412	2657	3	C	T	T	31	31	CACNA1D	T	1	1
CACNA1D	776	broad.mit.edu	36	3	53785709	53785709	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53785709G>A	uc003dgu.2	+	c.4462G>A	c.(4462-4464)GAC>AAC	p.D1488N	CACNA1D_uc003dgv.2_Missense_Mutation_p.D1468N|CACNA1D_uc003dgy.2_Missense_Mutation_p.D1453N|CACNA1D_uc003dgw.2_Missense_Mutation_p.D1135N|CACNA1D_uc003dgx.1_Missense_Mutation_p.D644N	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1468	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).|Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|liver(1)	7					Verapamil(DB00661)									0.376623	143.941763	145.985447	58	96	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	53785709	53785709	2657	3	G	A	A	37	37	CACNA1D	A	1	1
ACTR8	93973	broad.mit.edu	36	3	53880443	53880443	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53880443A>G	uc003dhd.1	-	c.1423T>C	c.(1423-1425)TCT>CCT	p.S475P	ACTR8_uc003dhb.1_Missense_Mutation_p.S180P|ACTR8_uc003dhc.1_Missense_Mutation_p.S364P	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	475					cell division|mitosis	chromosome|nucleus				ovary(1)|central_nervous_system(1)	2														0.234234	128.796185	143.25094	52	170	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	Missense_Mutation	SNP	53880443	53880443	218	3	A	G	G	10	10	ACTR8	G	4	4
WNT5A	7474	broad.mit.edu	36	3	55479487	55479487	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:55479487G>A	uc003dhn.1	-	c.816C>T	c.(814-816)AGC>AGT	p.S272S	WNT5A_uc003dhm.1_Silent_p.S257S|WNT5A_uc010hmw.1_Silent_p.S257S|WNT5A_uc010hmx.1_Silent_p.S183S	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	272					activation of JUN kinase activity|activation of protein kinase B activity|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of mesenchymal cell proliferation|neural tube closure|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|promoter binding|receptor tyrosine kinase-like orphan receptor binding|specific transcriptional repressor activity|transcription activator activity				0														0.333333	24.890317	25.714141	11	22	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	Silent	SNP	55479487	55479487	17965	3	G	A	A	38	38	WNT5A	A	1	1
ERC2	26059	broad.mit.edu	36	3	56443987	56443987	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:56443987C>T	uc003dhr.1	-	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														0.284615	86.419854	91.837162	37	93	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	Missense_Mutation	SNP	56443987	56443987	5404	3	C	T	T	31	31	ERC2	T	1	1
CCDC66	285331	broad.mit.edu	36	3	56602606	56602606	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:56602606T>G	uc003dhu.1	+	c.765T>G	c.(763-765)AGT>AGG	p.S255R	CCDC66_uc003dhx.1_Non-coding_Transcript|CCDC66_uc003dhy.1_Missense_Mutation_p.S8R|CCDC66_uc003dhz.1_Missense_Mutation_p.S255R	NM_001012506	NP_001012524	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 2	372										breast(1)	1														0.376238	121.529693	122.885958	38	63	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	Missense_Mutation	SNP	56602606	56602606	2961	3	T	G	G	60	60	CCDC66	G	4	4
CCDC66	285331	broad.mit.edu	36	3	56603068	56603068	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:56603068G>A	uc003dhu.1	+	c.1025G>A	c.(1024-1026)AGA>AAA	p.R342K	CCDC66_uc003dhx.1_Non-coding_Transcript|CCDC66_uc003dhy.1_Missense_Mutation_p.R95K|CCDC66_uc003dhz.1_Missense_Mutation_p.R342K	NM_001012506	NP_001012524	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 2	459										breast(1)	1														0.175	66.899142	86.830033	35	165	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	Missense_Mutation	SNP	56603068	56603068	2961	3	G	A	A	33	33	CCDC66	A	2	2
IL17RD	54756	broad.mit.edu	36	3	57107319	57107319	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57107319G>A	uc003dil.1	-	c.1452C>T	c.(1450-1452)TGC>TGT	p.C484C	IL17RD_uc003dik.1_Silent_p.C460C|IL17RD_uc010hna.1_Silent_p.C340C	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	484	Cytoplasmic (Potential).|SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0										213				0.328947	60.445854	62.419005	25	51	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	Silent	SNP	57107319	57107319	7943	3	G	A	A	38	38	IL17RD	A	1	1
IL17RD	54756	broad.mit.edu	36	3	57114956	57114956	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57114956T>G	uc003dil.1	-	c.716A>C	c.(715-717)GAA>GCA	p.E239A	IL17RD_uc003dik.1_Missense_Mutation_p.E215A|IL17RD_uc010hna.1_Missense_Mutation_p.E95A	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	239	Extracellular (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0										213				0.219512	22.052821	25.025267	9	32	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	Missense_Mutation	SNP	57114956	57114956	7943	3	T	G	G	62	62	IL17RD	G	4	4
IL17RD	54756	broad.mit.edu	36	3	57118685	57118685	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57118685G>A	uc003dil.1	-	c.470C>T	c.(469-471)ACG>ATG	p.T157M	IL17RD_uc003dik.1_Missense_Mutation_p.T133M|IL17RD_uc010hna.1_Missense_Mutation_p.T13M	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	157	Extracellular (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0									p.T133M(T84-Tumor)	213				0.315385	102.02547	105.968608	41	89	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	Missense_Mutation	SNP	57118685	57118685	7943	3	G	A	A	40	40	IL17RD	A	1	1
APPL1	26060	broad.mit.edu	36	3	57269057	57269057	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57269057C>T	uc003dio.1	+	c.1628C>T	c.(1627-1629)TCG>TTG	p.S543L	APPL1_uc010hnb.1_Missense_Mutation_p.S543L	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	543	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1														0.268817	58.831716	63.31988	25	68	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	Missense_Mutation	SNP	57269057	57269057	828	3	C	T	T	31	31	APPL1	T	1	1
ARF4	378	broad.mit.edu	36	3	57536386	57536386	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57536386C>A	uc003dix.2	-	c.385G>T	c.(385-387)GAT>TAT	p.D129Y	ARF4_uc003diy.2_Non-coding_Transcript|ARF4_uc010hnd.1_Missense_Mutation_p.D102Y|ARF4_uc003diz.2_Non-coding_Transcript	NM_001660	NP_001651	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	129	GTP.				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity				0														0.30719	112.053702	117.133344	47	106	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)	Missense_Mutation	SNP	57536386	57536386	857	3	C	A	A	30	30	ARF4	A	3	3
FAM116A	201627	broad.mit.edu	36	3	57589048	57589048	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57589048A>G	uc003dja.1	-	c.1760T>C	c.(1759-1761)ATA>ACA	p.I587T		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	587										pancreas(1)	1														0.283422	154.830082	162.686762	53	134	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	Missense_Mutation	SNP	57589048	57589048	5604	3	A	G	G	16	16	FAM116A	G	4	4
SLMAP	7871	broad.mit.edu	36	3	57792197	57792197	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57792197C>T	uc003dje.1	+	c.246C>T	c.(244-246)AGC>AGT	p.S82S	SLMAP_uc003djc.1_Silent_p.S82S|SLMAP_uc003djd.1_Silent_p.S82S|SLMAP_uc003djf.1_Silent_p.S82S	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	82	Necessary for targeting to centrosomes (By similarity).|Cytoplasmic (Potential).|FHA.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0														0.285714	59.26313	62.726102	24	60	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	Silent	SNP	57792197	57792197	15247	3	C	T	T	26	26	SLMAP	T	2	2
SLMAP	7871	broad.mit.edu	36	3	57873310	57873310	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57873310C>A	uc003dje.1	+	c.1811C>A	c.(1810-1812)TCT>TAT	p.S604Y	SLMAP_uc003djd.1_Missense_Mutation_p.S587Y|SLMAP_uc003djf.1_Missense_Mutation_p.S566Y|SLMAP_uc003djg.1_Missense_Mutation_p.S198Y|SLMAP_uc003djh.2_Missense_Mutation_p.S97Y|SLMAP_uc003dji.1_Missense_Mutation_p.S138Y	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	604	Cytoplasmic (Potential).|Potential.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0														0.227642	56.428777	64.811187	28	95	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	Missense_Mutation	SNP	57873310	57873310	15247	3	C	A	A	32	32	SLMAP	A	3	3
FLNB	2317	broad.mit.edu	36	3	58042518	58042518	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:58042518G>A	uc010hne.1	+	c.762G>A	c.(760-762)CCG>CCA	p.P254P	FLNB_uc003djj.1_Silent_p.P254P|FLNB_uc003djk.1_Silent_p.P254P|FLNB_uc010hnf.1_Silent_p.P254P|FLNB_uc003djl.1_Silent_p.P85P|FLNB_uc003djm.1_Silent_p.P85P	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B, beta (actin binding protein 278)	254	Filamin 1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(6)|ovary(3)	9										676				0.290503	127.831705	134.86927	52	127	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	Silent	SNP	58042518	58042518	6176	3	G	A	A	37	37	FLNB	A	1	1
FLNB	2317	broad.mit.edu	36	3	58091557	58091557	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:58091557C>A	uc010hne.1	+	c.4272C>A	c.(4270-4272)GTC>GTA	p.V1424V	FLNB_uc003djj.1_Silent_p.V1424V|FLNB_uc003djk.1_Silent_p.V1424V|FLNB_uc010hnf.1_Silent_p.V1424V|FLNB_uc003djl.1_Silent_p.V1255V|FLNB_uc003djm.1_Silent_p.V1255V	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B, beta (actin binding protein 278)	1424	Filamin 13.|Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(6)|ovary(3)	9										676				0.227273	31.086443	35.596706	15	51	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	Silent	SNP	58091557	58091557	6176	3	C	A	A	29	29	FLNB	A	3	3
DNASE1L3	1776	broad.mit.edu	36	3	58154174	58154174	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:58154174G>A	uc003djo.1	-	c.737C>T	c.(736-738)TCT>TTT	p.S246F	DNASE1L3_uc003djp.1_Missense_Mutation_p.S246F|DNASE1L3_uc003djq.1_Missense_Mutation_p.S246F	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	246					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3						Esophageal Squamous(96;1069 1424 4841 43466 52325)								0.275862	103.130106	109.693441	40	105	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	Missense_Mutation	SNP	58154174	58154174	4846	3	G	A	A	33	33	DNASE1L3	A	2	2
PXK	54899	broad.mit.edu	36	3	58357936	58357936	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:58357936G>A	uc003djz.1	+	c.953G>A	c.(952-954)CGA>CAA	p.R318Q	PXK_uc003djx.1_Missense_Mutation_p.R318Q|PXK_uc003djy.1_Missense_Mutation_p.R301Q|PXK_uc003dka.1_Missense_Mutation_p.R318Q|PXK_uc003dkb.1_Missense_Mutation_p.R235Q|PXK_uc003dkc.1_Missense_Mutation_p.R301Q|PXK_uc010hnj.1_Missense_Mutation_p.R285Q|PXK_uc003dkd.1_Missense_Mutation_p.R181Q|PXK_uc010hnk.1_Missense_Mutation_p.R92Q	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	318	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|protein phosphorylation|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1										508				0.201072	151.517638	182.502861	75	298	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	Missense_Mutation	SNP	58357936	58357936	13307	3	G	A	A	37	37	PXK	A	1	1
PDHB	5162	broad.mit.edu	36	3	58391439	58391439	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:58391439G>A	uc003dkf.2	-	c.574C>T	c.(574-576)CGG>TGG	p.R192W	PDHB_uc003dke.2_Missense_Mutation_p.R150W|PDHB_uc003dkg.2_Missense_Mutation_p.R174W|PDHB_uc010hnl.1_Missense_Mutation_p.R174W|PDHB_uc003dkh.2_Non-coding_Transcript	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	192					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)|Pyruvic acid(DB00119)									0.512195	184.126554	184.142638	63	60	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Missense_Mutation	SNP	58391439	58391439	12087	3	G	A	A	37	37	PDHB	A	1	1
KCTD6	200845	broad.mit.edu	36	3	58459532	58459532	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:58459532G>A	uc003dkj.2	+	c.10G>A	c.(10-12)GGA>AGA	p.G4R	KCTD6_uc003dki.2_Missense_Mutation_p.G4R|KCTD6_uc003dkk.2_Missense_Mutation_p.G4R	NM_001128214	NP_001121686	Q8NC69	KCTD6_HUMAN	potassium channel tetramerisation domain	4						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0														0.227273	82.036287	92.556681	35	119	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	Missense_Mutation	SNP	58459532	58459532	8419	3	G	A	A	47	47	KCTD6	A	2	2
PTPRG	5793	broad.mit.edu	36	3	62164480	62164480	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:62164480C>T	uc003dlb.1	+	c.1971C>T	c.(1969-1971)GGC>GGT	p.G657G	PTPRG_uc003dlc.1_Silent_p.G188G	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	657	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7														0.6	47.443399	47.703835	18	12	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	Silent	SNP	62164480	62164480	13259	3	C	T	T	27	27	PTPRG	T	1	1
FEZF2	55079	broad.mit.edu	36	3	62332053	62332053	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:62332053A>T	uc003dlh.2	-	c.999T>A	c.(997-999)CAT>CAA	p.H333Q	FEZF2_uc003dli.2_Missense_Mutation_p.H333Q	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	333	C2H2-type 3.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)				NSCLC(170;1772 2053 12525 15604 23984)								0.457143	195.194555	195.416888	64	76	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	Missense_Mutation	SNP	62332053	62332053	6063	3	A	T	T	16	16	FEZF2	T	4	4
FEZF2	55079	broad.mit.edu	36	3	62333452	62333452	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:62333452C>T	uc003dlh.2	-	c.132G>A	c.(130-132)GCG>GCA	p.A44A	FEZF2_uc003dli.2_Silent_p.A44A	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	44					transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)				NSCLC(170;1772 2053 12525 15604 23984)								0.272727	33.003048	35.563423	15	40	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	Silent	SNP	62333452	62333452	6063	3	C	T	T	27	27	FEZF2	T	1	1
CADPS	8618	broad.mit.edu	36	3	62835717	62835717	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:62835717C>A	uc003dll.1	-	c.28G>T	c.(28-30)GAA>TAA	p.E10*	CADPS_uc003dlm.1_Nonsense_Mutation_p.E10*|CADPS_uc003dln.1_Nonsense_Mutation_p.E10*	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	10					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)												0.25	21.527165	23.802793	10	30	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	Nonsense_Mutation	SNP	62835717	62835717	2686	3	C	A	A	32	32	CADPS	A	5	3
ATXN7	6314	broad.mit.edu	36	3	63956641	63956641	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:63956641C>T	uc010hnv.1	+	c.2103C>T	c.(2101-2103)GGC>GGT	p.G701G	ATXN7_uc003dlw.2_Silent_p.G701G|ATXN7_uc003dlv.2_Silent_p.G701G	NM_001128149	NP_001121621	O15265	ATX7_HUMAN	ataxin 7 isoform b	701	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)												0.306306	83.306061	87.021424	34	77	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	Silent	SNP	63956641	63956641	1235	3	C	T	T	27	27	ATXN7	T	1	1
ATXN7	6314	broad.mit.edu	36	3	63960166	63960166	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:63960166C>T	uc010hnv.1	+	c.2729C>T	c.(2728-2730)TCC>TTC	p.S910F	ATXN7_uc003dlw.2_Missense_Mutation_p.P888S	NM_001128149	NP_001121621	O15265	ATX7_HUMAN	ataxin 7 isoform b	620					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)												0.152174	10.003153	15.32583	7	39	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	Missense_Mutation	SNP	63960166	63960166	1235	3	C	T	T	26	26	ATXN7	T	2	2
PRICKLE2	166336	broad.mit.edu	36	3	64060596	64060596	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:64060596C>T	uc003dmf.1	-	c.1706G>A	c.(1705-1707)CGA>CAA	p.R569Q		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	569						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)	4		Lung NSC(201;0.136)												0.485981	451.475841	451.530847	156	165	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	Missense_Mutation	SNP	64060596	64060596	12930	3	C	T	T	31	31	PRICKLE2	T	1	1
PRICKLE2	166336	broad.mit.edu	36	3	64107604	64107604	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:64107604C>T	uc003dmf.1	-	c.1602G>A	c.(1600-1602)ACG>ACA	p.T534T		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	534						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)	4		Lung NSC(201;0.136)												0.529762	249.251205	249.37901	89	79	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	Silent	SNP	64107604	64107604	12930	3	C	T	T	27	27	PRICKLE2	T	1	1
ADAMTS9	56999	broad.mit.edu	36	3	64507505	64507505	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:64507505G>A	uc003dmg.1	-	c.5033C>T	c.(5032-5034)TCG>TTG	p.S1678L		NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1678	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)												0.206704	74.871816	89.149471	37	142	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	Missense_Mutation	SNP	64507505	64507505	274	3	G	A	A	37	37	ADAMTS9	A	1	1
ADAMTS9	56999	broad.mit.edu	36	3	64522364	64522364	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:64522364G>A	uc003dmg.1	-	c.4628C>T	c.(4627-4629)CCG>CTG	p.P1543L	ADAMTS9_uc003dmh.1_Missense_Mutation_p.P1372L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1543	TSP type-1 12.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)												0.293578	168.856271	177.146806	64	154	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	Missense_Mutation	SNP	64522364	64522364	274	3	G	A	A	39	39	ADAMTS9	A	1	1
ADAMTS9	56999	broad.mit.edu	36	3	64576781	64576781	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:64576781C>A	uc003dmg.1	-	c.2919G>T	c.(2917-2919)GAG>GAT	p.E973D	ADAMTS9_uc003dmh.1_Missense_Mutation_p.E802D|ADAMTS9_uc003dmk.1_Missense_Mutation_p.E973D	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	973	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)												0.208487	209.822267	252.537917	113	429	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	Missense_Mutation	SNP	64576781	64576781	274	3	C	A	A	32	32	ADAMTS9	A	3	3
ADAMTS9	56999	broad.mit.edu	36	3	64592604	64592604	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:64592604C>T	uc003dmg.1	-	c.2213G>A	c.(2212-2214)CGG>CAG	p.R738Q	ADAMTS9_uc003dmh.1_Missense_Mutation_p.R567Q|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R738Q	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	738	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)												0.269939	108.032029	115.813819	44	119	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	Missense_Mutation	SNP	64592604	64592604	274	3	C	T	T	23	23	ADAMTS9	T	1	1
ADAMTS9	56999	broad.mit.edu	36	3	64647456	64647456	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:64647456G>A	uc003dmg.1	-	c.344C>T	c.(343-345)GCC>GTC	p.A115V	ADAMTS9_uc003dmh.1_5'UTR|ADAMTS9_uc003dmk.1_Missense_Mutation_p.A115V	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	115					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)												0.606742	162.176535	163.074376	54	35	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	Missense_Mutation	SNP	64647456	64647456	274	3	G	A	A	42	42	ADAMTS9	A	2	2
MAGI1	9223	broad.mit.edu	36	3	65390431	65390431	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:65390431G>A	uc003dmn.1	-	c.1971C>T	c.(1969-1971)ATC>ATT	p.I657I	MAGI1_uc003dmm.1_Silent_p.I657I|MAGI1_uc003dmo.1_Silent_p.I657I|MAGI1_uc003dmp.1_Silent_p.I657I	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	657	PDZ 3.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			kidney(1)|pancreas(1)	2		Lung NSC(201;0.0016)												0.318966	95.138667	98.514922	37	79	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	Silent	SNP	65390431	65390431	9573	3	G	A	A	37	37	MAGI1	A	1	1
LRIG1	26018	broad.mit.edu	36	3	66546111	66546111	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:66546111C>A	uc003dmx.1	-	c.665G>T	c.(664-666)AGG>ATG	p.R222M	LRIG1_uc010hnz.1_De_novo_Start_InFrame|LRIG1_uc010hoa.1_Missense_Mutation_p.R222M	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	222	Extracellular (Potential).|LRR 7.					integral to membrane				ovary(2)|skin(1)	3		Lung NSC(201;0.0101)												0.166667	22.591174	31.448454	14	70	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00047)	Missense_Mutation	SNP	66546111	66546111	9317	3	C	A	A	24	24	LRIG1	A	3	3
KBTBD8	84541	broad.mit.edu	36	3	67136356	67136356	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:67136356G>A	uc003dmy.1	+	c.275G>A	c.(274-276)CGA>CAA	p.R92Q	KBTBD8_uc003dmz.1_Missense_Mutation_p.R66Q	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	92	BTB.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)												0.261765	208.720103	226.184426	89	251	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	Missense_Mutation	SNP	67136356	67136356	8304	3	G	A	A	37	37	KBTBD8	A	1	1
GRM7	2917	broad.mit.edu	36	3	6878235	6878235	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:6878235C>T	uc003bql.1	+	c.160C>T	c.(160-162)CTG>TTG	p.L54L	GRM7_uc010hcf.1_Non-coding_Transcript|GRM7_uc010hcg.1_Silent_p.L54L|GRM7_uc003bqm.1_Silent_p.L54L	NM_181874	NP_870989	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform b	54	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)	4					L-Glutamic Acid(DB00142)									0.285714	13.748789	14.60993	6	15	CC		KEEP	---	---	---	---	capture			Silent	SNP	6878235	6878235	7081	3	C	T	T	28	28	GRM7	T	2	2
UBA3	9039	broad.mit.edu	36	3	69194852	69194852	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:69194852C>T	uc003dno.1	-	c.664G>A	c.(664-666)GAA>AAA	p.E222K	UBA3_uc003dnq.1_Missense_Mutation_p.E208K	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	222					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)												0.285047	150.330185	159.180346	61	153	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	Missense_Mutation	SNP	69194852	69194852	17386	3	C	T	T	31	31	UBA3	T	1	1
UBA3	9039	broad.mit.edu	36	3	69209712	69209712	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:69209712C>T	uc003dno.1	-	c.110G>A	c.(109-111)CGC>CAC	p.R37H	UBA3_uc003dnq.1_Missense_Mutation_p.R23H	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	37					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)												0.584746	596.636836	598.854111	207	147	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	Missense_Mutation	SNP	69209712	69209712	17386	3	C	T	T	27	27	UBA3	T	1	1
LMOD3	56203	broad.mit.edu	36	3	69250768	69250768	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:69250768C>T	uc003dns.1	-	c.1428G>A	c.(1426-1428)CCG>CCA	p.P476P	LMOD3_uc003dnt.1_Silent_p.P476P	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	476						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)												0.277778	46.568314	49.768701	20	52	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	Silent	SNP	69250768	69250768	9187	3	C	T	T	31	31	LMOD3	T	1	1
LMOD3	56203	broad.mit.edu	36	3	69251271	69251271	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:69251271T>G	uc003dns.1	-	c.925A>C	c.(925-927)AAT>CAT	p.N309H	LMOD3_uc003dnt.1_Missense_Mutation_p.N309H	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	309						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)												0.275	251.867199	266.453321	88	232	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	Missense_Mutation	SNP	69251271	69251271	9187	3	T	G	G	64	64	LMOD3	G	4	4
FRMD4B	23150	broad.mit.edu	36	3	69303719	69303719	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:69303719G>A	uc003dnv.2	-	c.3088C>T	c.(3088-3090)CCT>TCT	p.P1030S	FRMD4B_uc003dnw.2_Non-coding_Transcript|FRMD4B_uc003dnu.2_Missense_Mutation_p.P682S	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	1030						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)												0.271429	180.030192	193.192764	76	204	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	Missense_Mutation	SNP	69303719	69303719	6302	3	G	A	A	42	42	FRMD4B	A	2	2
FRMD4B	23150	broad.mit.edu	36	3	69353760	69353760	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:69353760C>T	uc003dnv.2	-	c.670G>A	c.(670-672)GAC>AAC	p.D224N	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnx.1_Missense_Mutation_p.D170N	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	224	FERM.					cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)												0.5	20.924152	20.924152	7	7	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	Missense_Mutation	SNP	69353760	69353760	6302	3	C	T	T	30	30	FRMD4B	T	2	2
MITF	4286	broad.mit.edu	36	3	70088329	70088329	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:70088329G>A	uc003dnz.1	+	c.971G>A	c.(970-972)CGC>CAC	p.R324H	MITF_uc003doa.1_Missense_Mutation_p.R323H|MITF_uc003dob.1_Missense_Mutation_p.R308H|MITF_uc003dod.1_Missense_Mutation_p.R299H|MITF_uc003doe.1_Missense_Mutation_p.R217H|MITF_uc003dof.1_Missense_Mutation_p.R223H	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	330	Helix-loop-helix motif.				melanocyte differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)				Melanoma(29;269 969 31479 41502 42961)				237				0.435897	141.201803	141.621723	51	66	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	Missense_Mutation	SNP	70088329	70088329	9986	3	G	A	A	38	38	MITF	A	1	1
MITF	4286	broad.mit.edu	36	3	70096970	70096970	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:70096970G>A	uc003dnz.1	+	c.1444G>A	c.(1444-1446)GAC>AAC	p.D482N	MITF_uc003doa.1_Missense_Mutation_p.D481N|MITF_uc003dob.1_Missense_Mutation_p.D466N|MITF_uc003dod.1_Missense_Mutation_p.D457N|MITF_uc003doe.1_Missense_Mutation_p.D375N|MITF_uc003dof.1_Missense_Mutation_p.D381N	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	488					melanocyte differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)				Melanoma(29;269 969 31479 41502 42961)				237				0.444444	211.881926	212.339688	76	95	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	Missense_Mutation	SNP	70096970	70096970	9986	3	G	A	A	37	37	MITF	A	1	1
SHQ1	55164	broad.mit.edu	36	3	72956310	72956310	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:72956310C>T	uc003dpf.1	-	c.682G>A	c.(682-684)GCC>ACC	p.A228T	SHQ1_uc010hod.1_Missense_Mutation_p.A139T	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	228					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)												0.382166	162.250472	164.165968	60	97	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	Missense_Mutation	SNP	72956310	72956310	14787	3	C	T	T	26	26	SHQ1	T	2	2
GXYLT2	727936	broad.mit.edu	36	3	73054069	73054069	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:73054069A>G	uc003dpg.1	+	c.493A>G	c.(493-495)ACA>GCA	p.T165A		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	165	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0														0.489655	984.133418	984.185686	284	296	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73054069	73054069	7184	3	A	G	G	14	14	GXYLT2	G	4	4
EBLN2	55096	broad.mit.edu	36	3	73194048	73194048	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:73194048G>A	uc003dpj.1	+	c.126G>A	c.(124-126)CGG>CGA	p.R42R	PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron	NM_018029	NP_060499	Q6P2I7	EBLN2_HUMAN	hypothetical protein LOC55096	42							protein binding				0														0.394737	43.215547	43.584519	15	23	GG		KEEP	---	---	---	---	capture			Silent	SNP	73194048	73194048	5071	3	G	A	A	41	41	EBLN2	A	2	2
PPP4R2	151987	broad.mit.edu	36	3	73197472	73197472	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:73197472C>T	uc003dph.1	+	c.1163C>T	c.(1162-1164)TCC>TTC	p.S388F	PPP4R2_uc003dpi.1_Missense_Mutation_p.S331F	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	388	Glu-rich.				mRNA processing|protein modification process|RNA splicing	centrosome|nucleus	protein binding			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)												0.215686	48.691869	56.302913	22	80	CC		KEEP	---	---	---	---	capture		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	Missense_Mutation	SNP	73197472	73197472	12840	3	C	T	T	30	30	PPP4R2	T	2	2
PDZRN3	23024	broad.mit.edu	36	3	73515486	73515486	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:73515486C>T	uc003dpl.1	-	c.2921G>A	c.(2920-2922)AGC>AAC	p.S974N	PDZRN3_uc010hoe.1_Missense_Mutation_p.S672N	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	974							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|pancreas(2)|large_intestine(1)	5		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)												0.467433	368.914672	369.156612	122	139	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	Missense_Mutation	SNP	73515486	73515486	12130	3	C	T	T	28	28	PDZRN3	T	2	2
PDZRN3	23024	broad.mit.edu	36	3	73515973	73515973	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:73515973T>C	uc003dpl.1	-	c.2434A>G	c.(2434-2436)ACG>GCG	p.T812A	PDZRN3_uc010hoe.1_Missense_Mutation_p.T510A	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	812							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|pancreas(2)|large_intestine(1)	5		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)												0.386503	184.3928	186.230441	63	100	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	Missense_Mutation	SNP	73515973	73515973	12130	3	T	C	C	59	59	PDZRN3	C	4	4
CNTN3	5067	broad.mit.edu	36	3	74433513	74433513	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:74433513G>A	uc003dpm.1	-	c.1920C>T	c.(1918-1920)TCC>TCT	p.S640S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3	640	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)	4		Lung NSC(201;0.138)|Lung SC(41;0.21)												0.141361	41.217526	64.901048	27	164	GG		KEEP	---	---	---	---	capture		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	Silent	SNP	74433513	74433513	3780	3	G	A	A	39	39	CNTN3	A	1	1
ROBO2	6092	broad.mit.edu	36	3	77678238	77678238	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:77678238A>G	uc003dpy.2	+	c.994A>G	c.(994-996)ACA>GCA	p.T332A	ROBO2_uc003dpz.1_Missense_Mutation_p.T53A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	332	Ig-like C2-type 4.|Extracellular (Potential).				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)|ovary(1)|large_intestine(1)|liver(1)	8										1049				0.236755	396.932246	435.194213	143	461	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	77678238	77678238	13993	3	A	G	G	10	10	ROBO2	G	4	4
ROBO2	6092	broad.mit.edu	36	3	77689837	77689837	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:77689837G>A	uc003dpy.2	+	c.1284G>A	c.(1282-1284)ACG>ACA	p.T428T	ROBO2_uc003dpz.1_Silent_p.T149T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	428	Ig-like C2-type 5.|Extracellular (Potential).				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)|ovary(1)|large_intestine(1)|liver(1)	8									p.T428T(HUCCT1-Tumor)|p.T428T(SNU1105-Tumor)|p.T428T(KMRC1-Tumor)|p.T428T(PK1-Tumor)|p.T428T(RERFLCAI-Tumor)|p.T428T(JHOM2B-Tumor)|p.T428T(GCIY-Tumor)|p.T428T(MKN1-Tumor)|p.T428T(JHH1-Tumor)|p.T428T(SNU182-Tumor)|p.T428T(JHH5-Tumor)	1049				0.269767	133.546445	143.836574	58	157	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	77689837	77689837	13993	3	G	A	A	38	38	ROBO2	A	1	1
ROBO1	6091	broad.mit.edu	36	3	78849618	78849618	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:78849618C>T	uc003dqe.1	-	c.763G>A	c.(763-765)GAG>AAG	p.E255K	ROBO1_uc003dqb.1_Missense_Mutation_p.E216K|ROBO1_uc003dqc.1_Missense_Mutation_p.E216K|ROBO1_uc003dqd.1_Missense_Mutation_p.E216K|ROBO1_uc003dqf.1_5'Flank	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	255	Extracellular (Potential).|Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)								693				0.485714	95.837554	95.850238	34	36	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	Missense_Mutation	SNP	78849618	78849618	13992	3	C	T	T	31	31	ROBO1	T	1	1
OXTR	5021	broad.mit.edu	36	3	8769818	8769818	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:8769818C>T	uc003brc.1	-	c.1015G>A	c.(1015-1017)GAA>AAA	p.E339K		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	339	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0					Carbetocin(DB01282)									0.241071	59.971577	66.822097	27	85	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.15)	Missense_Mutation	SNP	8769818	8769818	11751	3	C	T	T	31	31	OXTR	T	1	1
HTR1F	3355	broad.mit.edu	36	3	88122689	88122689	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:88122689G>A	uc003dqr.2	+	c.100G>A	c.(100-102)GCA>ACA	p.A34T	HTR1F_uc010hok.1_Missense_Mutation_p.A34T	NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	34	Helical; Name=1; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)			Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)									0.217532	143.244202	165.916107	67	241	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Missense_Mutation	SNP	88122689	88122689	7740	3	G	A	A	42	42	HTR1F	A	2	2
ZNF654	55279	broad.mit.edu	36	3	88272047	88272047	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:88272047T>C	uc003dqv.1	+	c.897T>C	c.(895-897)TGT>TGC	p.C299C	CGGBP1_uc003dqu.1_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	299	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(201;0.0283)												0.414384	406.253497	408.11428	121	171	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	Silent	SNP	88272047	88272047	18662	3	T	C	C	57	57	ZNF654	C	4	4
ZNF654	55279	broad.mit.edu	36	3	88272294	88272294	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:88272294G>A	uc003dqv.1	+	c.1144G>A	c.(1144-1146)GAA>AAA	p.E382K	CGGBP1_uc003dqu.1_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(201;0.0283)												0.107143	8.308278	21.176695	9	75	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	Missense_Mutation	SNP	88272294	88272294	18662	3	G	A	A	33	33	ZNF654	A	2	2
C3orf38	285237	broad.mit.edu	36	3	88288357	88288357	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:88288357T>C	uc003dqw.1	+	c.866T>C	c.(865-867)GTT>GCT	p.V289A		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	hypothetical protein LOC285237	291					apoptosis						0		Lung NSC(201;0.17)												0.506757	263.034222	263.040249	75	73	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	Missense_Mutation	SNP	88288357	88288357	2321	3	T	C	C	60	60	C3orf38	C	4	4
EPHA3	2042	broad.mit.edu	36	3	89341977	89341977	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:89341977A>G	uc003dqy.1	+	c.431A>G	c.(430-432)GAC>GGC	p.D144G	EPHA3_uc003dqx.1_Missense_Mutation_p.D144G|EPHA3_uc010hom.1_Missense_Mutation_p.D144G|EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	144	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)								416	TSP Lung(6;0.00050)			0.397661	440.642042	443.771578	136	206	AA		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	Missense_Mutation	SNP	89341977	89341977	5361	3	A	G	G	10	10	EPHA3	G	4	4
SRGAP3	9901	broad.mit.edu	36	3	9007472	9007472	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9007472G>A	uc003brf.1	-	c.2610C>T	c.(2608-2610)GGC>GGT	p.G870G	SRGAP3_uc003brg.1_Silent_p.G846G	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	870					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)|urinary_tract(1)|breast(1)	6														0.4	24.04315	24.261926	10	15	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	Silent	SNP	9007472	9007472	15661	3	G	A	A	38	38	SRGAP3	A	1	1
SRGAP3	9901	broad.mit.edu	36	3	9141429	9141429	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9141429G>A	uc003brf.1	-	c.240C>T	c.(238-240)AGC>AGT	p.S80S	SRGAP3_uc003brg.1_Silent_p.S80S|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.2_Silent_p.S80S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	80	FCH.				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)|urinary_tract(1)|breast(1)	6														0.2375	92.485343	102.548336	38	122	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	Silent	SNP	9141429	9141429	15661	3	G	A	A	34	34	SRGAP3	A	2	2
THUMPD3	25917	broad.mit.edu	36	3	9381957	9381957	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9381957G>T	uc003bro.2	+	c.205G>T	c.(205-207)GAC>TAC	p.D69Y	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.2_Missense_Mutation_p.D69Y	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	69							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)													0.330357	183.254373	188.977647	74	150	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.101)	Missense_Mutation	SNP	9381957	9381957	16412	3	G	T	T	33	33	THUMPD3	T	3	3
SETD5	55209	broad.mit.edu	36	3	9487615	9487615	+	Splice_Site_SNP	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9487615T>G	uc003brt.1	+	c.3195_splice	c.e19+2	p.K1065_splice	SETD5_uc003bru.1_Splice_Site_SNP_p.K967_splice|SETD5_uc003brv.1_Splice_Site_SNP_p.K954_splice|SETD5_uc010hck.1_Splice_Site_SNP_p.K547_splice|SETD5_uc003brx.1_Splice_Site_SNP_p.K734_splice	NM_001080517	NP_001073986			SET domain containing 5											ovary(2)	2	Medulloblastoma(99;0.227)													0.25	14.668296	15.802433	5	15	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.112)	Splice_Site_SNP	SNP	9487615	9487615	14623	3	T	G	G	57	57	SETD5	G	5	4
BRPF1	7862	broad.mit.edu	36	3	9760345	9760345	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9760345C>T	uc003bsf.1	+	c.2395C>T	c.(2395-2397)CTG>TTG	p.L799L	BRPF1_uc003bse.1_Silent_p.L793L|BRPF1_uc003bsg.1_Silent_p.L792L	NM_001003694	NP_001003694	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	793	Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|transcription activator activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)													0.62963	153.621399	154.821983	51	30	CC		KEEP	---	---	---	---	capture			Silent	SNP	9760345	9760345	1551	3	C	T	T	28	28	BRPF1	T	2	2
OGG1	4968	broad.mit.edu	36	3	9768482	9768482	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9768482C>T	uc003bsm.1	+	c.414C>T	c.(412-414)ATC>ATT	p.I138I	OGG1_uc003bsh.1_Silent_p.I138I|OGG1_uc003bsj.1_Silent_p.I138I|OGG1_uc003bsi.1_Silent_p.I138I|OGG1_uc003bsl.1_Silent_p.I138I|OGG1_uc003bsk.1_Silent_p.I138I|OGG1_uc003bsn.1_Silent_p.I138I|OGG1_uc003bso.1_Silent_p.I138I|OGG1_uc003bsr.1_5'UTR|OGG1_uc010hcm.1_5'UTR|OGG1_uc003bsq.1_5'UTR|OGG1_uc003bsp.1_5'UTR	NM_016821	NP_058214	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase isoform 2a	138					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)									40				0.477528	487.192985	487.350706	170	186	CC		KEEP	---	---	---	---	capture			Silent	SNP	9768482	9768482	11250	3	C	T	T	31	31	OGG1	T	1	1
CAMK1	8536	broad.mit.edu	36	3	9778436	9778436	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9778436C>A	uc003bst.1	-	c.435G>T	c.(433-435)GAG>GAT	p.E145D	OGG1_uc003bsl.1_Intron|OGG1_uc003bsk.1_Intron|OGG1_uc003bsn.1_Intron|OGG1_uc003bso.1_Intron|OGG1_uc003bsm.1_Intron|CAMK1_uc003bsu.1_Non-coding_Transcript|CAMK1_uc003bss.2_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	145	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|protein phosphorylation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)									25				0.27907	54.55331	58.336087	24	62	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	Missense_Mutation	SNP	9778436	9778436	2713	3	C	A	A	32	32	CAMK1	A	3	3
EPHA6	285220	broad.mit.edu	36	3	98445562	98445562	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:98445562T>C	uc010how.1	+	c.1347T>C	c.(1345-1347)AGT>AGC	p.S449S	EPHA6_uc003drp.1_Silent_p.S449S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	354	Fibronectin type-III 1.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.409091	82.416105	82.891566	27	39	TT		KEEP	---	---	---	---	capture			Silent	SNP	98445562	98445562	5364	3	T	C	C	59	59	EPHA6	C	4	4
TTLL3	26140	broad.mit.edu	36	3	9852124	9852124	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9852124G>T	uc003btg.1	+	c.2270G>T	c.(2269-2271)AGA>ATA	p.R757I	ARPC4_uc003btc.1_Intron	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	757					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)													0.462025	386.375519	386.775689	146	170	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9852124	9852124	17283	3	G	T	T	33	33	TTLL3	T	3	3
EPHA6	285220	broad.mit.edu	36	3	98734070	98734070	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:98734070C>T	uc010how.1	+	c.2379C>T	c.(2377-2379)GTC>GTT	p.V793V	EPHA6_uc003drs.2_Silent_p.V185V|EPHA6_uc003drr.2_Silent_p.V185V|EPHA6_uc003drt.2_Silent_p.V185V|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	698	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.492537	91.664701	91.668089	33	34	CC		KEEP	---	---	---	---	capture			Silent	SNP	98734070	98734070	5364	3	C	T	T	29	29	EPHA6	T	2	2
ARL6	84100	broad.mit.edu	36	3	98986490	98986490	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:98986490G>T	uc003drv.1	+	c.256G>T	c.(256-258)GAA>TAA	p.E86*	ARL6_uc003dru.1_Nonsense_Mutation_p.E86*|ARL6_uc010hoy.1_Nonsense_Mutation_p.E86*|ARL6_uc003drw.2_Non-coding_Transcript	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	86					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception	cilium axoneme|cilium membrane|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding				0		Lung NSC(201;0.0193)|Prostate(884;0.174)												0.40566	114.29335	115.120741	43	63	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	Nonsense_Mutation	SNP	98986490	98986490	959	3	G	T	T	33	33	ARL6	T	5	3
CRYBG3	131544	broad.mit.edu	36	3	99090896	99090896	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99090896T>C	uc003drx.1	+	c.1568T>C	c.(1567-1569)CTG>CCG	p.L523P		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0														0.216049	87.836791	99.888708	35	127	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99090896	99090896	4052	3	T	C	C	55	55	CRYBG3	C	4	4
CRYBG3	131544	broad.mit.edu	36	3	99094511	99094511	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99094511C>T	uc003drx.1	+	c.1714C>T	c.(1714-1716)CGT>TGT	p.R572C		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0														0.167808	85.782697	116.324789	49	243	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99094511	99094511	4052	3	C	T	T	31	31	CRYBG3	T	1	1
OR5AC2	81050	broad.mit.edu	36	3	99289398	99289398	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99289398A>C	uc003dse.1	+	c.692A>C	c.(691-693)AAG>ACG	p.K231T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.343434	95.117561	97.262379	34	65	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99289398	99289398	11551	3	A	C	C	3	3	OR5AC2	C	4	4
OR5H1	26341	broad.mit.edu	36	3	99334698	99334698	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99334698C>T	uc003dsf.1	+	c.467C>T	c.(466-468)GCT>GTT	p.A156V		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.241546	122.740653	135.358058	50	157	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99334698	99334698	11569	3	C	T	T	28	28	OR5H1	T	2	2
OR5H14	403273	broad.mit.edu	36	3	99351249	99351249	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99351249G>A	uc003dsg.1	+	c.330G>A	c.(328-330)ACG>ACA	p.T110T		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.195876	206.249902	248.061451	95	390	GG		KEEP	---	---	---	---	capture			Silent	SNP	99351249	99351249	11570	3	G	A	A	39	39	OR5H14	A	1	1
OR5H14	403273	broad.mit.edu	36	3	99351513	99351513	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99351513G>T	uc003dsg.1	+	c.594G>T	c.(592-594)ATG>ATT	p.M198I		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.491329	243.54684	243.558614	85	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99351513	99351513	11570	3	G	T	T	47	47	OR5H14	T	3	3
OR5H15	403274	broad.mit.edu	36	3	99370808	99370808	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99370808C>A	uc003dsh.1	+	c.575C>A	c.(574-576)TCT>TAT	p.S192Y		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.20339	42.823871	52.483848	24	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99370808	99370808	11571	3	C	A	A	32	32	OR5H15	A	3	3
OR5H2	79310	broad.mit.edu	36	3	99484865	99484865	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99484865G>A	uc003dsj.1	+	c.444G>A	c.(442-444)CGG>CGA	p.R148R		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	148	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3														0.240642	104.174638	115.65904	45	142	GG		KEEP	---	---	---	---	capture			Silent	SNP	99484865	99484865	11572	3	G	A	A	42	42	OR5H2	A	2	2
OR5H2	79310	broad.mit.edu	36	3	99485147	99485147	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99485147C>A	uc003dsj.1	+	c.726C>A	c.(724-726)GCC>GCA	p.A242A		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	242	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3														0.273224	118.15739	126.647703	50	133	CC		KEEP	---	---	---	---	capture			Silent	SNP	99485147	99485147	11572	3	C	A	A	24	24	OR5H2	A	3	3
OR5H2	79310	broad.mit.edu	36	3	99485366	99485366	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99485366G>A	uc003dsj.1	+	c.945G>A	c.(943-945)TAG>TAA	p.*315*		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3														0.180328	19.883605	25.750439	11	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	99485366	99485366	11572	3	G	A	A	33	33	OR5H2	A	2	2
OR5K3	403277	broad.mit.edu	36	3	99592594	99592594	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99592594A>G	uc003dsl.1	+	c.395A>G	c.(394-396)TAC>TGC	p.Y132C		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.455108	464.177961	464.764617	147	176	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99592594	99592594	11578	3	A	G	G	14	14	OR5K3	G	4	4
PRRT3	285368	broad.mit.edu	36	3	9966713	9966713	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9966713G>T	uc003bul.2	-	c.87C>A	c.(85-87)GGC>GGA	p.G29G	CIDEC_uc003bto.1_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.2_Silent_p.G29G	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	29	Extracellular (Potential).					integral to membrane					0														0.365385	92.019921	93.674613	38	66	GG		KEEP	---	---	---	---	capture			Silent	SNP	9966713	9966713	13060	3	G	T	T	34	34	PRRT3	T	3	3
OR5K2	402135	broad.mit.edu	36	3	99699578	99699578	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99699578C>T	uc003dsn.1	+	c.364C>T	c.(364-366)CGC>TGC	p.R122C		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.174216	93.390745	122.128027	50	237	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99699578	99699578	11577	3	C	T	T	23	23	OR5K2	T	1	1
OR5K2	402135	broad.mit.edu	36	3	99700045	99700045	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99700045A>G	uc003dsn.1	+	c.831A>G	c.(829-831)TTA>TTG	p.L277L		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.240602	88.551518	96.704718	32	101	AA		KEEP	---	---	---	---	capture			Silent	SNP	99700045	99700045	11577	3	A	G	G	16	16	OR5K2	G	4	4
GPR15	2838	broad.mit.edu	36	3	99734613	99734613	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99734613A>G	uc003dsw.1	+	c.1046A>G	c.(1045-1047)GAT>GGT	p.D349G		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	349	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)												0.42328	257.859175	258.830733	80	109	AA		KEEP	---	---	---	---	capture		Lung(72;0.246)	Missense_Mutation	SNP	99734613	99734613	6930	3	A	G	G	12	12	GPR15	G	4	4
ST3GAL6	10402	broad.mit.edu	36	3	99993482	99993482	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99993482T>C	uc010hpd.1	+	c.1023T>C	c.(1021-1023)AGT>AGC	p.S341S	ST3GAL6_uc003dsy.1_Silent_p.S202S|ST3GAL6_uc003dsz.1_Silent_p.S288S|ST3GAL6_uc003dta.1_Silent_p.S170S|ST3GAL6_uc003dtb.1_Silent_p.S144S|ST3GAL6_uc003dtc.1_Silent_p.S288S	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	288	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1														0.159744	102.13441	136.694783	50	263	TT		KEEP	---	---	---	---	capture			Silent	SNP	99993482	99993482	15737	3	T	C	C	58	58	ST3GAL6	C	4	4
EIF4E	1977	broad.mit.edu	36	4	100027306	100027306	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100027306T>C	uc003hue.1	-	c.346A>G	c.(346-348)ACA>GCA	p.T116A		NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	116					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)	1										88				0.463252	702.788269	703.312247	208	241	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	Missense_Mutation	SNP	100027306	100027306	5219	4	T	C	C	57	57	EIF4E	C	4	4
EIF4E	1977	broad.mit.edu	36	4	100028067	100028067	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100028067A>C	uc003hue.1	-	c.281T>G	c.(280-282)TTT>TGT	p.F94C		NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	94					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)	1										88				0.225806	54.326666	60.747859	21	72	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	Missense_Mutation	SNP	100028067	100028067	5219	4	A	C	C	1	1	EIF4E	C	4	4
ADH6	130	broad.mit.edu	36	4	100347637	100347637	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100347637G>T	uc003huo.2	-	c.953C>A	c.(952-954)TCT>TAT	p.S318Y	ADH6_uc003hup.2_Missense_Mutation_p.S318Y|ADH6_uc010ile.1_Intron	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 isoform 1	318					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)	2					Abacavir(DB01048)|NADH(DB00157)									0.208054	59.229615	71.007673	31	118	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Missense_Mutation	SNP	100347637	100347637	313	4	G	T	T	33	33	ADH6	T	3	3
ADH1A	124	broad.mit.edu	36	4	100422689	100422689	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100422689G>A	uc003hur.1	-	c.665C>T	c.(664-666)GCG>GTG	p.A222V	ADH1A_uc010ilf.1_Missense_Mutation_p.A13V	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	222					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|transcription regulator activity|zinc ion binding			large_intestine(1)|ovary(1)	2					Fomepizole(DB01213)|NADH(DB00157)									0.099533	23.947194	127.026203	64	579	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Missense_Mutation	SNP	100422689	100422689	308	4	G	A	A	38	38	ADH1A	A	1	1
ADH1B	125	broad.mit.edu	36	4	100456204	100456204	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100456204G>T	uc003hus.2	-	c.441C>A	c.(439-441)TTC>TTA	p.F147L	ADH1B_uc003hut.2_Missense_Mutation_p.F107L	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	147					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2					Fomepizole(DB01213)|NADH(DB00157)									0.321429	167.079159	173.446626	72	152	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Missense_Mutation	SNP	100456204	100456204	309	4	G	T	T	33	33	ADH1B	T	3	3
ADH1B	125	broad.mit.edu	36	4	100459005	100459005	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100459005A>C	uc003hus.2	-	c.80T>G	c.(79-81)GTG>GGG	p.V27G	ADH1B_uc003hut.2_5'UTR	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	27					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2					Fomepizole(DB01213)|NADH(DB00157)									0.345745	213.225116	217.171727	65	123	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Missense_Mutation	SNP	100459005	100459005	309	4	A	C	C	6	6	ADH1B	C	4	4
ADH1C	126	broad.mit.edu	36	4	100487933	100487933	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100487933G>A	uc003huu.1	-	c.112C>T	c.(112-114)CGC>TGC	p.R38C		NM_000669	NP_000660	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C, gamma polypeptide	38					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0					Fomepizole(DB01213)|NADH(DB00157)									0.198347	47.933527	58.182667	24	97	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Missense_Mutation	SNP	100487933	100487933	310	4	G	A	A	37	37	ADH1C	A	1	1
ZNF518B	85460	broad.mit.edu	36	4	10055109	10055109	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:10055109C>T	uc003gmn.1	-	c.1942G>A	c.(1942-1944)GAG>AAG	p.E648K	ZNF518B_uc010idn.1_Missense_Mutation_p.E648K	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3														0.254777	182.722641	199.88293	80	234	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10055109	10055109	18557	4	C	T	T	31	31	ZNF518B	T	1	1
ZNF518B	85460	broad.mit.edu	36	4	10056270	10056270	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:10056270A>G	uc003gmn.1	-	c.781T>C	c.(781-783)TCA>CCA	p.S261P	ZNF518B_uc010idn.1_Missense_Mutation_p.S261P	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3														0.249035	364.66371	394.40077	129	389	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10056270	10056270	18557	4	A	G	G	10	10	ZNF518B	G	4	4
ZNF518B	85460	broad.mit.edu	36	4	10056539	10056539	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:10056539G>A	uc003gmn.1	-	c.512C>T	c.(511-513)TCG>TTG	p.S171L	ZNF518B_uc010idn.1_Missense_Mutation_p.S171L	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	171	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3														0.321839	214.199827	221.561954	84	177	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10056539	10056539	18557	4	G	A	A	37	37	ZNF518B	A	1	1
C4orf17	84103	broad.mit.edu	36	4	100677892	100677892	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100677892C>T	uc003huw.1	+	c.590C>T	c.(589-591)GCA>GTA	p.A197V	C4orf17_uc003hux.1_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	197											0														0.449074	262.164935	262.66311	97	119	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	Missense_Mutation	SNP	100677892	100677892	2347	4	C	T	T	25	25	C4orf17	T	2	2
MTTP	4547	broad.mit.edu	36	4	100723598	100723598	+	Missense_Mutation	SNP	G	T	T	rs2306986	by-cluster,by-frequency,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100723598G>T	uc003hvc.2	+	c.294G>T	c.(292-294)GAG>GAT	p.E98D	MTTP_uc003hvb.2_Missense_Mutation_p.E98D	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	98	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4					Hesperetin(DB01094)									0.119298	28.623627	69.210446	34	251	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Missense_Mutation	SNP	100723598	100723598	10357	4	G	T	T	33	33	MTTP	T	3	3
MTTP	4547	broad.mit.edu	36	4	100761357	100761357	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100761357C>A	uc003hvc.2	+	c.2459C>A	c.(2458-2460)TCT>TAT	p.S820Y		NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	820					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4					Hesperetin(DB01094)									0.228346	116.005537	133.220963	58	196	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Missense_Mutation	SNP	100761357	100761357	10357	4	C	A	A	32	32	MTTP	A	3	3
H2AFZ	3015	broad.mit.edu	36	4	101089899	101089899	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:101089899C>T	uc003hvo.1	-	c.25G>A	c.(25-27)GAC>AAC	p.D9N	H2AFZ_uc003hvn.1_Missense_Mutation_p.D9N|LOC256880_uc003hvp.1_5'Flank	NM_002106	NP_002097	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	9	Required for interaction with INCENP (By similarity).				nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.238494	113.655289	128.699639	57	182	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	Missense_Mutation	SNP	101089899	101089899	7212	4	C	T	T	30	30	H2AFZ	T	2	2
DDIT4L	115265	broad.mit.edu	36	4	101328243	101328243	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:101328243A>G	uc003hvq.1	-	c.196T>C	c.(196-198)TCC>CCC	p.S66P		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	66					negative regulation of signal transduction	cytoplasm				ovary(1)	1														0.228228	201.448544	223.995628	76	257	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)	Missense_Mutation	SNP	101328243	101328243	4503	4	A	G	G	10	10	DDIT4L	G	4	4
CLNK	116449	broad.mit.edu	36	4	10142988	10142988	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:10142988T>C	uc003gmo.2	-	c.620A>G	c.(619-621)GAC>GGC	p.D207G	CLNK_uc003gmp.2_Missense_Mutation_p.D165G	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	207					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						GBM(87;402 1286 6949 13902 35851)								0.111111	6.943913	13.66979	5	40	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10142988	10142988	3685	4	T	C	C	58	58	CLNK	C	4	4
CLNK	116449	broad.mit.edu	36	4	10175459	10175459	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:10175459C>T	uc003gmo.2	-	c.333G>A	c.(331-333)CCG>CCA	p.P111P	CLNK_uc003gmp.2_Silent_p.P69P	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	111					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						GBM(87;402 1286 6949 13902 35851)								0.263736	54.957953	59.55261	24	67	CC		KEEP	---	---	---	---	capture			Silent	SNP	10175459	10175459	3685	4	C	T	T	19	19	CLNK	T	1	1
CLNK	116449	broad.mit.edu	36	4	10176872	10176872	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:10176872C>T	uc003gmo.2	-	c.151G>A	c.(151-153)GAA>AAA	p.E51K	CLNK_uc003gmp.2_Missense_Mutation_p.E9K	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	51					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						GBM(87;402 1286 6949 13902 35851)								0.264706	175.861771	189.485698	72	200	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10176872	10176872	3685	4	C	T	T	30	30	CLNK	T	2	2
MANBA	4126	broad.mit.edu	36	4	103790787	103790787	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:103790787G>T	uc003hwg.1	-	c.1824C>A	c.(1822-1824)AGC>AGA	p.S608R		NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	608					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)												0.305785	193.852884	201.997935	74	168	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	Missense_Mutation	SNP	103790787	103790787	9602	4	G	T	T	46	46	MANBA	T	3	3
NHEDC1	150159	broad.mit.edu	36	4	104089869	104089869	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:104089869G>T	uc003hww.1	-	c.376C>A	c.(376-378)CTT>ATT	p.L126I	NHEDC1_uc003hwu.1_Missense_Mutation_p.L126I|NHEDC1_uc010ilm.1_5'UTR|NHEDC1_uc003hwv.2_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	126	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)	1		Hepatocellular(203;0.217)												0.184783	61.326644	78.488608	34	150	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	Missense_Mutation	SNP	104089869	104089869	10800	4	G	T	T	33	33	NHEDC1	T	3	3
NHEDC2	133308	broad.mit.edu	36	4	104206992	104206992	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:104206992C>A	uc003hwx.2	-	c.212G>T	c.(211-213)AGA>ATA	p.R71I	NHEDC2_uc003hwy.1_Missense_Mutation_p.R71I	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	71					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0														0.293151	251.033876	265.045647	107	258	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	Missense_Mutation	SNP	104206992	104206992	10801	4	C	A	A	32	32	NHEDC2	A	3	3
BDH2	56898	broad.mit.edu	36	4	104222750	104222750	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:104222750C>T	uc003hwz.1	-	c.621G>A	c.(619-621)AAG>AAA	p.K207K	BDH2_uc003hxa.1_Non-coding_Transcript	NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	207					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0		Hepatocellular(203;0.217)												0.232759	63.759416	71.349454	27	89	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	Silent	SNP	104222750	104222750	1413	4	C	T	T	32	32	BDH2	T	2	2
CENPE	1062	broad.mit.edu	36	4	104285088	104285088	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:104285088G>A	uc003hxb.1	-	c.4994C>T	c.(4993-4995)ACG>ATG	p.T1665M	CENPE_uc003hxc.1_Missense_Mutation_p.T1640M	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1665	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														0.167235	81.891961	112.650296	49	244	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	Missense_Mutation	SNP	104285088	104285088	3363	4	G	A	A	40	40	CENPE	A	1	1
CENPE	1062	broad.mit.edu	36	4	104299694	104299694	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:104299694C>T	uc003hxb.1	-	c.2523G>A	c.(2521-2523)GAG>GAA	p.E841E	CENPE_uc003hxc.1_Silent_p.E816E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	841	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														0.111111	17.290977	42.871183	19	152	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	Silent	SNP	104299694	104299694	3363	4	C	T	T	32	32	CENPE	T	2	2
TET2	54790	broad.mit.edu	36	4	106374878	106374878	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:106374878G>A	uc003hxk.2	+	c.330G>A	c.(328-330)AAG>AAA	p.K110K	TET2_uc010ilp.1_Silent_p.K110K|TET2_uc003hxi.1_Silent_p.K110K|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc010ilq.1_Silent_p.K110K	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	110					cell cycle|myeloid cell differentiation|oxidation-reduction process		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(668)|pancreas(1)	669		Myeloproliferative disorder(5;0.0393)								111				0.276596	65.504886	69.730882	26	68	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	Silent	SNP	106374878	106374878	16297	4	G	A	A	33	33	TET2	A	2	2
TET2	54790	broad.mit.edu	36	4	106375890	106375890	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:106375890G>A	uc003hxk.2	+	c.1342G>A	c.(1342-1344)GAA>AAA	p.E448K	TET2_uc010ilp.1_Missense_Mutation_p.E448K|TET2_uc003hxi.1_Missense_Mutation_p.E448K|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc010ilq.1_Missense_Mutation_p.E448K	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	448					cell cycle|myeloid cell differentiation|oxidation-reduction process		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(668)|pancreas(1)	669		Myeloproliferative disorder(5;0.0393)								111				0.166667	28.144125	38.255545	16	80	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	Missense_Mutation	SNP	106375890	106375890	16297	4	G	A	A	41	41	TET2	A	2	2
INTS12	57117	broad.mit.edu	36	4	106823434	106823434	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:106823434G>T	uc003hxw.1	-	c.1294C>A	c.(1294-1296)CTT>ATT	p.L432I	INTS12_uc010ilr.1_Missense_Mutation_p.L432I	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	432	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding				0														0.238095	175.414959	196.484326	80	256	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	Missense_Mutation	SNP	106823434	106823434	8078	4	G	T	T	35	35	INTS12	T	3	3
INTS12	57117	broad.mit.edu	36	4	106823757	106823757	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:106823757G>A	uc003hxw.1	-	c.971C>T	c.(970-972)TCG>TTG	p.S324L	INTS12_uc010ilr.1_Missense_Mutation_p.S324L	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	324	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding				0														0.506329	466.27508	466.285754	160	156	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	Missense_Mutation	SNP	106823757	106823757	8078	4	G	A	A	37	37	INTS12	A	1	1
RNF212	285498	broad.mit.edu	36	4	1069727	1069727	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1069727C>A	uc003gci.1	-	c.319G>T	c.(319-321)GAA>TAA	p.E107*	RNF212_uc010ibp.1_Non-coding_Transcript|RNF212_uc003gcj.1_Nonsense_Mutation_p.E107*|RNF212_uc010ibq.1_Nonsense_Mutation_p.E107*	NM_194439	NP_919420	Q495C1	RN212_HUMAN	ring finger protein 212 isoform b	107	Potential.						zinc ion binding				0														0.245902	63.678173	70.861334	30	92	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	Nonsense_Mutation	SNP	1069727	1069727	13954	4	C	A	A	32	32	RNF212	A	5	3
TBCK	93627	broad.mit.edu	36	4	107311750	107311750	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:107311750G>A	uc010ilv.1	-	c.2186C>T	c.(2185-2187)TCG>TTG	p.S729L	TBCK_uc003hyb.1_Missense_Mutation_p.S472L|TBCK_uc003hyc.1_Missense_Mutation_p.S666L|TBCK_uc003hyd.1_Missense_Mutation_p.S557L|TBCK_uc003hye.1_Missense_Mutation_p.S690L|TBCK_uc003hyf.1_Missense_Mutation_p.S729L	NM_033115	NP_149106	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	729					protein phosphorylation	intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)	4									p.S690L(CCK81-Tumor)	691				0.51875	235.814389	235.862866	83	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107311750	107311750	16162	4	G	A	A	37	37	TBCK	A	1	1
TBCK	93627	broad.mit.edu	36	4	107353426	107353426	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:107353426A>C	uc010ilv.1	-	c.1790T>G	c.(1789-1791)TTC>TGC	p.F597C	TBCK_uc003hyb.1_Missense_Mutation_p.F340C|TBCK_uc003hyc.1_Missense_Mutation_p.F534C|TBCK_uc003hyd.1_Missense_Mutation_p.F425C|TBCK_uc003hye.1_Missense_Mutation_p.F558C|TBCK_uc003hyf.1_Missense_Mutation_p.F597C	NM_033115	NP_149106	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	597	Rab-GAP TBC.				protein phosphorylation	intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)	4										691				0.506369	565.350309	565.361822	159	155	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107353426	107353426	16162	4	A	C	C	9	9	TBCK	C	4	4
TBCK	93627	broad.mit.edu	36	4	107385263	107385263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:107385263G>A	uc010ilv.1	-	c.1039C>T	c.(1039-1041)CGA>TGA	p.R347*	TBCK_uc003hyb.1_Nonsense_Mutation_p.R90*|TBCK_uc003hyc.1_Nonsense_Mutation_p.R284*|TBCK_uc003hyd.1_Nonsense_Mutation_p.R175*|TBCK_uc003hye.1_Nonsense_Mutation_p.R308*|TBCK_uc003hyf.1_Nonsense_Mutation_p.R347*	NM_033115	NP_149106	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	347					protein phosphorylation	intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)	4										691				0.238095	88.878822	99.365163	40	128	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	107385263	107385263	16162	4	G	A	A	37	37	TBCK	A	5	1
DKK2	27123	broad.mit.edu	36	4	108064646	108064646	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:108064646C>T	uc003hyi.1	-	c.694G>A	c.(694-696)GAC>AAC	p.D232N	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	232	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)												0.57483	504.692621	506.125332	169	125	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	Missense_Mutation	SNP	108064646	108064646	4725	4	C	T	T	31	31	DKK2	T	1	1
DKK2	27123	broad.mit.edu	36	4	108065242	108065242	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:108065242C>A	uc003hyi.1	-	c.438G>T	c.(436-438)CGG>CGT	p.R146R	DKK2_uc003hyj.1_Silent_p.R146R|DKK2_uc010ilw.1_Non-coding_Transcript	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	146					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)												0.207483	121.69349	145.021544	61	233	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	Silent	SNP	108065242	108065242	4725	4	C	A	A	26	26	DKK2	A	3	3
SGMS2	166929	broad.mit.edu	36	4	109040247	109040247	+	Missense_Mutation	SNP	T	C	C	rs13119073	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:109040247T>C	uc003hyl.2	+	c.523T>C	c.(523-525)TAT>CAT	p.Y175H	SGMS2_uc003hyn.1_Missense_Mutation_p.Y175H|SGMS2_uc003hyo.1_Missense_Mutation_p.Y175H	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	175	Helical; (Potential).				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1					Choline(DB00122)									0.216312	160.531547	181.46951	61	221	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Missense_Mutation	SNP	109040247	109040247	14706	4	T	C	C	57	57	SGMS2	C	4	4
COL25A1	84570	broad.mit.edu	36	4	109993508	109993508	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:109993508G>A	uc010imd.1	-	c.1343C>T	c.(1342-1344)ACG>ATG	p.T448M	COL25A1_uc003hzd.1_Non-coding_Transcript|COL25A1_uc003hze.1_Missense_Mutation_p.T448M|COL25A1_uc003hzf.1_Intron|COL25A1_uc010ime.1_Missense_Mutation_p.T448M|COL25A1_uc003hzg.1_Missense_Mutation_p.T448M	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	448	Extracellular (Potential).|Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)												0.277778	72.602264	77.402406	30	78	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	Missense_Mutation	SNP	109993508	109993508	3822	4	G	A	A	40	40	COL25A1	A	1	1
HS3ST1	9957	broad.mit.edu	36	4	11009969	11009969	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:11009969G>A	uc003gmq.1	-	c.759C>T	c.(757-759)GGC>GGT	p.G253G	HS3ST1_uc010ido.1_Silent_p.G253G	NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	253						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity				0														0.361111	128.439461	130.892639	52	92	GG		KEEP	---	---	---	---	capture			Silent	SNP	11009969	11009969	7657	4	G	A	A	34	34	HS3ST1	A	2	2
SEC24B	10427	broad.mit.edu	36	4	110671045	110671045	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:110671045C>A	uc003hzk.1	+	c.3228C>A	c.(3226-3228)CTC>CTA	p.L1076L	SEC24B_uc003hzl.1_Silent_p.L1041L	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1076					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	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)												0.20442	69.953107	84.651295	37	144	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	Silent	SNP	110671045	110671045	14481	4	C	A	A	32	32	SEC24B	A	3	3
PLA2G12A	81579	broad.mit.edu	36	4	110855083	110855083	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:110855083C>A	uc003hzp.1	-	c.469G>T	c.(469-471)GAG>TAG	p.E157*	PLA2G12A_uc010img.1_Nonsense_Mutation_p.E155*	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	157					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0														0.266129	222.847057	241.241065	99	273	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000268)	Nonsense_Mutation	SNP	110855083	110855083	12416	4	C	A	A	30	30	PLA2G12A	A	5	3
PLA2G12A	81579	broad.mit.edu	36	4	110858194	110858194	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:110858194C>T	uc003hzp.1	-	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	PLA2G12A_uc010img.1_Missense_Mutation_p.R135Q	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	137					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0														0.119522	30.566899	66.23934	30	221	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000268)	Missense_Mutation	SNP	110858194	110858194	12416	4	C	T	T	31	31	PLA2G12A	T	1	1
PLA2G12A	81579	broad.mit.edu	36	4	110870283	110870283	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:110870283C>A	uc003hzp.1	-	c.132G>T	c.(130-132)AAG>AAT	p.K44N	PLA2G12A_uc010img.1_Missense_Mutation_p.K44N	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	44					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0														0.479452	96.713321	96.740487	35	38	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000268)	Missense_Mutation	SNP	110870283	110870283	12416	4	C	A	A	32	32	PLA2G12A	A	3	3
GAR1	54433	broad.mit.edu	36	4	110956795	110956795	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:110956795G>A	uc003hzt.1	+	c.26G>A	c.(25-27)GGA>GAA	p.G9E	GAR1_uc003hzu.1_Missense_Mutation_p.G9E|GAR1_uc010imh.1_Missense_Mutation_p.G9E|GAR1_uc010imi.1_Missense_Mutation_p.G9E	NM_018983	NP_127460	Q9NY12	GAR1_HUMAN	nucleolar protein family A, member 1	9	RGG-box 1.				rRNA processing	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0														0.521739	204.882279	204.938018	72	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110956795	110956795	6504	4	G	A	A	41	41	GAR1	A	2	2
RRH	10692	broad.mit.edu	36	4	110983240	110983240	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:110983240T>C	uc003hzv.1	+	c.887T>C	c.(886-888)GTT>GCT	p.V296A		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	296	Helical; Name=7; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1		Hepatocellular(203;0.217)												0.265306	159.117514	168.868634	52	144	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	Missense_Mutation	SNP	110983240	110983240	14160	4	T	C	C	60	60	RRH	C	4	4
LRIT3	345193	broad.mit.edu	36	4	111010672	111010672	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:111010672C>T	uc003hzx.2	+	c.1183C>T	c.(1183-1185)CGA>TGA	p.R395*	LRIT3_uc003hzw.2_Nonsense_Mutation_p.R257*|LRIT3_uc010imj.1_Nonsense_Mutation_p.R257*	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	395						integral to membrane					0														0.121053	22.190929	48.942671	23	167	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	Nonsense_Mutation	SNP	111010672	111010672	9322	4	C	T	T	27	27	LRIT3	T	5	1
EGF	1950	broad.mit.edu	36	4	111120678	111120678	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:111120678G>T	uc003hzy.2	+	c.2155G>T	c.(2155-2157)GTA>TTA	p.V719L	EGF_uc010imk.1_5'Flank	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor (beta-urogastrone)	719	Extracellular (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			central_nervous_system(1)	1		Hepatocellular(203;0.0893)			Sulindac(DB00605)					724				0.237805	93.237969	103.542116	39	125	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Missense_Mutation	SNP	111120678	111120678	5151	4	G	T	T	36	36	EGF	T	3	3
ENPEP	2028	broad.mit.edu	36	4	111617326	111617326	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:111617326G>A	uc003iab.2	+	c.307G>A	c.(307-309)GAC>AAC	p.D103N		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	103	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)			L-Glutamic Acid(DB00142)									0.373239	280.002796	283.998561	106	178	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	Missense_Mutation	SNP	111617326	111617326	5321	4	G	A	A	37	37	ENPEP	A	1	1
ENPEP	2028	broad.mit.edu	36	4	111671846	111671846	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:111671846A>G	uc003iab.2	+	c.1771A>G	c.(1771-1773)ACA>GCA	p.T591A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	591	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)			L-Glutamic Acid(DB00142)									0.336134	133.066099	135.891621	40	79	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	Missense_Mutation	SNP	111671846	111671846	5321	4	A	G	G	2	2	ENPEP	G	4	4
ALPK1	80216	broad.mit.edu	36	4	113571464	113571464	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:113571464G>A	uc003ian.2	+	c.1312G>A	c.(1312-1314)GAG>AAG	p.E438K	ALPK1_uc003iap.2_Missense_Mutation_p.E438K|ALPK1_uc003iao.2_Intron|ALPK1_uc010imo.1_Missense_Mutation_p.E266K	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	438					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)								252				0.401198	185.585385	187.012428	67	100	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	Missense_Mutation	SNP	113571464	113571464	547	4	G	A	A	37	37	ALPK1	A	1	1
ALPK1	80216	broad.mit.edu	36	4	113571962	113571962	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:113571962G>A	uc003ian.2	+	c.1810G>A	c.(1810-1812)GAC>AAC	p.D604N	ALPK1_uc003iap.2_Missense_Mutation_p.D604N|ALPK1_uc003iao.2_Intron|ALPK1_uc010imo.1_Missense_Mutation_p.D432N	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	604					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)								252				0.220779	72.56143	83.622125	34	120	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	Missense_Mutation	SNP	113571962	113571962	547	4	G	A	A	37	37	ALPK1	A	1	1
ALPK1	80216	broad.mit.edu	36	4	113572207	113572207	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:113572207C>A	uc003ian.2	+	c.2055C>A	c.(2053-2055)GCC>GCA	p.A685A	ALPK1_uc003iap.2_Silent_p.A685A|ALPK1_uc003iao.2_Intron|ALPK1_uc010imo.1_Silent_p.A513A	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	685					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)								252				0.382812	124.23935	125.78013	49	79	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	Silent	SNP	113572207	113572207	547	4	C	A	A	22	22	ALPK1	A	3	3
ALPK1	80216	broad.mit.edu	36	4	113572790	113572790	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:113572790C>T	uc003ian.2	+	c.2638C>T	c.(2638-2640)CCG>TCG	p.P880S	ALPK1_uc003iap.2_Missense_Mutation_p.P880S|ALPK1_uc003iao.2_Intron|ALPK1_uc010imo.1_Missense_Mutation_p.P708S	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	880					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)								252				0.497175	249.979312	249.980649	88	89	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	Missense_Mutation	SNP	113572790	113572790	547	4	C	T	T	26	26	ALPK1	T	2	2
ALPK1	80216	broad.mit.edu	36	4	113581620	113581620	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:113581620G>T	uc003ian.2	+	c.3637G>T	c.(3637-3639)GGA>TGA	p.G1213*	ALPK1_uc003iap.2_Nonsense_Mutation_p.G1213*|ALPK1_uc003iao.2_Non-coding_Transcript|ALPK1_uc010imo.1_Nonsense_Mutation_p.G1041*	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1213	Alpha-type protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)							p.G1213*(HEC108-Tumor)	252				0.21875	140.188053	163.519332	70	250	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	Nonsense_Mutation	SNP	113581620	113581620	547	4	G	T	T	35	35	ALPK1	T	5	3
NEUROG2	63973	broad.mit.edu	36	4	113655312	113655312	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:113655312C>T	uc003ias.1	-	c.769G>A	c.(769-771)GAC>AAC	p.D257N	NEUROG2_uc010imp.1_Missense_Mutation_p.D257N	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	257					transcription, DNA-dependent	nucleus	transcription regulator activity			central_nervous_system(1)	1		Ovarian(17;0.156)												0.485714	45.489528	45.494596	17	18	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	Missense_Mutation	SNP	113655312	113655312	10753	4	C	T	T	31	31	NEUROG2	T	1	1
NEUROG2	63973	broad.mit.edu	36	4	113655583	113655583	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:113655583C>A	uc003ias.1	-	c.498G>T	c.(496-498)GAG>GAT	p.E166D	NEUROG2_uc010imp.1_Missense_Mutation_p.E166D	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	166					transcription, DNA-dependent	nucleus	transcription regulator activity			central_nervous_system(1)	1		Ovarian(17;0.156)												0.254545	29.521023	32.531031	14	41	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	Missense_Mutation	SNP	113655583	113655583	10753	4	C	A	A	32	32	NEUROG2	A	3	3
ANK2	287	broad.mit.edu	36	4	114493746	114493746	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:114493746C>A	uc003ibe.2	+	c.4523C>A	c.(4522-4524)TCT>TAT	p.S1508Y	ANK2_uc003ibd.2_Intron|ANK2_uc003ibf.2_Intron|ANK2_uc003ibg.2_Intron|ANK2_uc003ibh.2_Intron	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1475					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)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)												0.229268	96.700486	110.497019	47	158	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	Missense_Mutation	SNP	114493746	114493746	624	4	C	A	A	32	32	ANK2	A	3	3
ANK2	287	broad.mit.edu	36	4	114494829	114494829	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:114494829C>T	uc003ibe.2	+	c.5606C>T	c.(5605-5607)GCG>GTG	p.A1869V	ANK2_uc003ibd.2_Intron|ANK2_uc003ibf.2_Intron|ANK2_uc003ibg.2_Intron|ANK2_uc003ibh.2_Intron	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1836	Repeat A.|Repeat-rich region.				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)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)												0.433243	436.847365	438.275744	159	208	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	Missense_Mutation	SNP	114494829	114494829	624	4	C	T	T	27	27	ANK2	T	1	1
ANK2	287	broad.mit.edu	36	4	114495428	114495428	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:114495428C>T	uc003ibe.2	+	c.6205C>T	c.(6205-6207)CGT>TGT	p.R2069C	ANK2_uc003ibd.2_Intron|ANK2_uc003ibf.2_Intron|ANK2_uc003ibg.2_Intron|ANK2_uc003ibh.2_Intron	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2036					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)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)												0.190678	86.752926	107.852216	45	191	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	Missense_Mutation	SNP	114495428	114495428	624	4	C	T	T	31	31	ANK2	T	1	1
ANK2	287	broad.mit.edu	36	4	114495970	114495970	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:114495970C>A	uc003ibe.2	+	c.6747C>A	c.(6745-6747)TTC>TTA	p.F2249L	ANK2_uc003ibd.2_Intron|ANK2_uc003ibf.2_Intron|ANK2_uc003ibg.2_Intron|ANK2_uc003ibh.2_Intron	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2216					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)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)												0.132911	22.95509	43.645144	21	137	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	Missense_Mutation	SNP	114495970	114495970	624	4	C	A	A	32	32	ANK2	A	3	3
CAMK2D	817	broad.mit.edu	36	4	114671877	114671877	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:114671877G>A	uc003ibi.1	-	c.545C>T	c.(544-546)TCT>TTT	p.S182F	CAMK2D_uc003ibj.1_Missense_Mutation_p.S182F|CAMK2D_uc003ibk.1_Missense_Mutation_p.S182F|CAMK2D_uc003ibl.1_Missense_Mutation_p.S182F|CAMK2D_uc003ibm.1_Missense_Mutation_p.S182F|CAMK2D_uc003ibn.1_Missense_Mutation_p.S182F|CAMK2D_uc003ibo.2_Missense_Mutation_p.S182F	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	182	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)								372				0.413043	110.028926	110.637477	38	54	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	Missense_Mutation	SNP	114671877	114671877	2718	4	G	A	A	33	33	CAMK2D	A	2	2
ARSJ	79642	broad.mit.edu	36	4	115043923	115043923	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:115043923G>A	uc003ibq.1	-	c.756C>T	c.(754-756)TCC>TCT	p.S252S	ARSJ_uc010imu.1_Silent_p.S252S|ARSJ_uc010imv.1_Silent_p.S80S	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J	252						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)												0.114068	30.547067	69.188539	30	233	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	Silent	SNP	115043923	115043923	1013	4	G	A	A	43	43	ARSJ	A	2	2
ARSJ	79642	broad.mit.edu	36	4	115043992	115043992	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:115043992G>T	uc003ibq.1	-	c.687C>A	c.(685-687)GCC>GCA	p.A229A	ARSJ_uc010imu.1_Silent_p.A229A|ARSJ_uc010imv.1_Silent_p.A57A	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J	229						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)												0.4475	491.036434	492.001816	179	221	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	Silent	SNP	115043992	115043992	1013	4	G	T	T	35	35	ARSJ	T	3	3
SPON2	10417	broad.mit.edu	36	4	1151414	1151414	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1151414G>A	uc003gcn.2	-	c.842C>T	c.(841-843)TCC>TTC	p.S281F	SPON2_uc003gco.2_Missense_Mutation_p.S281F|SPON2_uc010ibr.1_Missense_Mutation_p.S281F|SPON2_uc003gcm.1_3'UTR	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	281	TSP type-1.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)	1												OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.303922	156.670012	163.671101	62	142	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	Missense_Mutation	SNP	1151414	1151414	15596	4	G	A	A	41	41	SPON2	A	2	2
SPON2	10417	broad.mit.edu	36	4	1155835	1155835	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1155835C>T	uc003gcn.2	-	c.25G>A	c.(25-27)GCC>ACC	p.A9T	SPON2_uc003gco.2_Missense_Mutation_p.A9T|SPON2_uc010ibr.1_Missense_Mutation_p.A9T|SPON2_uc003gcm.1_5'Flank	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	9					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)	1														0.472222	43.954514	43.979673	17	19	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	Missense_Mutation	SNP	1155835	1155835	15596	4	C	T	T	27	27	SPON2	T	1	1
UGT8	7368	broad.mit.edu	36	4	115763672	115763672	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:115763672G>A	uc003ibs.2	+	c.187G>A	c.(187-189)GCC>ACC	p.A63T	UGT8_uc003ibt.2_Missense_Mutation_p.A63T	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8 (UDP-galactose	63					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)	1		Ovarian(17;0.156)												0.49697	227.13183	227.133176	82	83	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	Missense_Mutation	SNP	115763672	115763672	17523	4	G	A	A	38	38	UGT8	A	1	1
NDST4	64579	broad.mit.edu	36	4	115980062	115980062	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:115980062G>T	uc003ibu.1	-	c.2207C>A	c.(2206-2208)ACT>AAT	p.T736N	NDST4_uc010imw.1_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan	736	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)												0.24359	137.053053	151.080057	57	177	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	Missense_Mutation	SNP	115980062	115980062	10657	4	G	T	T	36	36	NDST4	T	3	3
NDST4	64579	broad.mit.edu	36	4	115986471	115986471	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:115986471G>A	uc003ibu.1	-	c.2072C>T	c.(2071-2073)ACC>ATC	p.T691I	NDST4_uc010imw.1_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan	691	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)												0.242424	89.107612	99.099472	40	125	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	Missense_Mutation	SNP	115986471	115986471	10657	4	G	A	A	44	44	NDST4	A	2	2
METTL14	57721	broad.mit.edu	36	4	119850648	119850648	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:119850648G>T	uc003icf.1	+	c.1114G>T	c.(1114-1116)GAA>TAA	p.E372*	METTL14_uc003icg.1_Nonsense_Mutation_p.E334*	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	hypothetical protein LOC57721	372						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0														0.141379	52.156054	88.168061	41	249	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	119850648	119850648	9888	4	G	T	T	33	33	METTL14	T	5	3
SEC24D	9871	broad.mit.edu	36	4	119873341	119873341	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:119873341G>A	uc003icj.2	-	c.2674C>T	c.(2674-2676)CCC>TCC	p.P892S	SEC24D_uc003ici.2_Missense_Mutation_p.P891S|SEC24D_uc003ich.2_Non-coding_Transcript|SEC24D_uc003ick.1_Missense_Mutation_p.P53S	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	891					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														0.107438	8.978652	27.489662	13	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119873341	119873341	14483	4	G	A	A	42	42	SEC24D	A	2	2
SYNPO2	171024	broad.mit.edu	36	4	120170970	120170970	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:120170970G>T	uc010inb.1	+	c.1592G>T	c.(1591-1593)AGA>ATA	p.R531I	SYNPO2_uc010ina.1_Missense_Mutation_p.R531I|SYNPO2_uc003icm.2_Missense_Mutation_p.R531I|SYNPO2_uc010inc.1_Missense_Mutation_p.R459I	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	531						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.336957	74.790247	76.956581	31	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120170970	120170970	15978	4	G	T	T	33	33	SYNPO2	T	3	3
SYNPO2	171024	broad.mit.edu	36	4	120171767	120171767	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:120171767C>T	uc010inb.1	+	c.2389C>T	c.(2389-2391)CCA>TCA	p.P797S	SYNPO2_uc010ina.1_Missense_Mutation_p.P797S|SYNPO2_uc003icm.2_Missense_Mutation_p.P797S|SYNPO2_uc010inc.1_Missense_Mutation_p.P725S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	797	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.116788	16.496091	36.295448	16	121	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120171767	120171767	15978	4	C	T	T	22	22	SYNPO2	T	2	2
SYNPO2	171024	broad.mit.edu	36	4	120172042	120172042	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:120172042C>T	uc010inb.1	+	c.2664C>T	c.(2662-2664)GTC>GTT	p.V888V	SYNPO2_uc010ina.1_Silent_p.V888V|SYNPO2_uc003icm.2_Silent_p.V888V|SYNPO2_uc010inc.1_Silent_p.V816V	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	888						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.208861	68.704121	81.093531	33	125	CC		KEEP	---	---	---	---	capture			Silent	SNP	120172042	120172042	15978	4	C	T	T	31	31	SYNPO2	T	1	1
USP53	54532	broad.mit.edu	36	4	120386020	120386020	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:120386020T>C	uc003ics.2	+	c.225T>C	c.(223-225)TTT>TTC	p.F75F	USP53_uc003icr.2_Silent_p.F75F|USP53_uc003icu.2_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	75					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)	3														0.102941	36.397236	79.107236	28	244	TT		KEEP	---	---	---	---	capture			Silent	SNP	120386020	120386020	17648	4	T	C	C	64	64	USP53	C	4	4
PDE5A	8654	broad.mit.edu	36	4	120683169	120683169	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:120683169C>T	uc003idh.1	-	c.1465G>A	c.(1465-1467)GAA>AAA	p.E489K	PDE5A_uc003idf.1_Missense_Mutation_p.E447K|PDE5A_uc003idg.1_Missense_Mutation_p.E437K	NM_001083	NP_246273	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	489	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)									0.122093	21.149215	45.218055	21	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120683169	120683169	12065	4	C	T	T	31	31	PDE5A	T	1	1
PDE5A	8654	broad.mit.edu	36	4	120747824	120747824	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:120747824C>T	uc003idh.1	-	c.229G>A	c.(229-231)GAA>AAA	p.E77K	PDE5A_uc003idf.1_Missense_Mutation_p.E35K|PDE5A_uc003idg.1_Missense_Mutation_p.E25K	NM_001083	NP_246273	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	77					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)									0.237037	69.625477	78.164158	32	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120747824	120747824	12065	4	C	T	T	31	31	PDE5A	T	1	1
CTBP1	1487	broad.mit.edu	36	4	1212011	1212011	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1212011C>T	uc003gcv.1	-	c.316G>A	c.(316-318)GAC>AAC	p.D106N	CTBP1_uc003gct.1_Missense_Mutation_p.D87N|CTBP1_uc003gcu.1_Missense_Mutation_p.D95N	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	106					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of histone H4 acetylation|oxidation-reduction process|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding|transcription repressor activity			ovary(1)	1									p.D106N(SNU1040-Tumor)	261				0.248521	94.281574	103.996144	42	127	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	Missense_Mutation	SNP	1212011	1212011	4156	4	C	T	T	31	31	CTBP1	T	1	1
PRDM5	11107	broad.mit.edu	36	4	121835810	121835810	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:121835810G>A	uc003idn.1	-	c.1799C>T	c.(1798-1800)CCC>CTC	p.P600L	PRDM5_uc003ido.1_Missense_Mutation_p.P569L|PRDM5_uc010ine.1_3'UTR	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	600					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	promoter binding|repressing transcription factor binding|specific transcriptional repressor activity|zinc ion binding			central_nervous_system(1)|pancreas(1)	2														0.467391	272.959494	273.126921	86	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121835810	121835810	12902	4	G	A	A	43	43	PRDM5	A	2	2
PRDM5	11107	broad.mit.edu	36	4	121952052	121952052	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:121952052C>T	uc003idn.1	-	c.868G>A	c.(868-870)GAT>AAT	p.D290N	PRDM5_uc003ido.1_Missense_Mutation_p.D259N|PRDM5_uc010ine.1_Missense_Mutation_p.D259N	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	290					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	promoter binding|repressing transcription factor binding|specific transcriptional repressor activity|zinc ion binding			central_nervous_system(1)|pancreas(1)	2														0.461538	112.791549	112.892147	36	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121952052	121952052	12902	4	C	T	T	32	32	PRDM5	T	2	2
C4orf31	79625	broad.mit.edu	36	4	122176988	122176988	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:122176988C>A	uc003idq.1	-	c.1588G>T	c.(1588-1590)GAA>TAA	p.E530*		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625	530	Fibronectin type-III 2.										0														0.25	133.035216	146.917954	61	183	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	122176988	122176988	2356	4	C	A	A	32	32	C4orf31	A	5	3
C4orf31	79625	broad.mit.edu	36	4	122178154	122178154	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:122178154G>A	uc003idq.1	-	c.422C>T	c.(421-423)TCC>TTC	p.S141F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625	141	Poly-Ser.										0														0.236453	107.185853	120.085263	48	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122178154	122178154	2356	4	G	A	A	41	41	C4orf31	A	2	2
QRFPR	84109	broad.mit.edu	36	4	122481077	122481077	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:122481077C>T	uc010inj.1	-	c.479G>A	c.(478-480)CGA>CAA	p.R160Q	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.R160Q|QRFPR_uc010inl.1_Missense_Mutation_p.R160Q	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	160	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity				0														0.379032	130.090061	131.683758	47	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122481077	122481077	13336	4	C	T	T	31	31	QRFPR	T	1	1
ANXA5	308	broad.mit.edu	36	4	122825337	122825337	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:122825337C>T	uc003idu.2	-	c.134G>A	c.(133-135)CGA>CAA	p.R45Q	ANXA5_uc003idv.2_Missense_Mutation_p.R45Q|ANXA5_uc003idw.2_Non-coding_Transcript|ANXA5_uc010inm.1_Missense_Mutation_p.R45Q|ANXA5_uc010inn.1_Intron|ANXA5_uc010ino.1_Intron	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	45	Annexin 1.				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)								0.204918	102.613397	122.326855	50	194	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122825337	122825337	729	4	C	T	T	31	31	ANXA5	T	1	1
BBS7	55212	broad.mit.edu	36	4	122986256	122986256	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:122986256C>A	uc003ied.1	-	c.1083G>T	c.(1081-1083)GAG>GAT	p.E361D	BBS7_uc003iee.1_Missense_Mutation_p.E361D	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	361					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1														0.197368	57.05295	70.029717	30	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122986256	122986256	1362	4	C	A	A	32	32	BBS7	A	3	3
KIAA1109	84162	broad.mit.edu	36	4	123313728	123313728	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123313728G>T	uc003ieh.1	+	c.185G>T	c.(184-186)AGA>ATA	p.R62I		NM_015312	NP_056127	Q2LD37	K1109_HUMAN	hypothetical protein LOC84162	62					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.229102	153.955077	175.718907	74	249	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123313728	123313728	8516	4	G	T	T	33	33	KIAA1109	T	3	3
KIAA1109	84162	broad.mit.edu	36	4	123380690	123380690	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123380690C>T	uc003ieh.1	+	c.4403C>T	c.(4402-4404)GCG>GTG	p.A1468V	KIAA1109_uc003iei.1_Missense_Mutation_p.A1221V|KIAA1109_uc010ins.1_Missense_Mutation_p.A811V|KIAA1109_uc003iek.2_Missense_Mutation_p.A87V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	hypothetical protein LOC84162	1468					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.30303	96.942573	101.518485	40	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123380690	123380690	8516	4	C	T	T	27	27	KIAA1109	T	1	1
KIAA1109	84162	broad.mit.edu	36	4	123411997	123411997	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123411997G>A	uc003ieh.1	+	c.7868G>A	c.(7867-7869)CGC>CAC	p.R2623H	KIAA1109_uc003iek.2_Missense_Mutation_p.R1242H|KIAA1109_uc003iel.1_Missense_Mutation_p.R558H	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	hypothetical protein LOC84162	2623					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.243478	62.238694	69.140285	28	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123411997	123411997	8516	4	G	A	A	38	38	KIAA1109	A	1	1
KIAA1109	84162	broad.mit.edu	36	4	123427376	123427376	+	Missense_Mutation	SNP	C	T	T	rs45511998	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123427376C>T	uc003ieh.1	+	c.9268C>T	c.(9268-9270)CGT>TGT	p.R3090C	KIAA1109_uc003iel.1_Missense_Mutation_p.R1025C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	hypothetical protein LOC84162	3090					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.2	47.931497	57.978428	24	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123427376	123427376	8516	4	C	T	T	27	27	KIAA1109	T	1	1
KIAA1109	84162	broad.mit.edu	36	4	123457353	123457353	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123457353G>A	uc003ieh.1	+	c.10556G>A	c.(10555-10557)CGA>CAA	p.R3519Q	KIAA1109_uc003iel.1_Missense_Mutation_p.R1454Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	hypothetical protein LOC84162	3519					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.229358	54.23353	61.545689	25	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123457353	123457353	8516	4	G	A	A	37	37	KIAA1109	A	1	1
KIAA1109	84162	broad.mit.edu	36	4	123458846	123458846	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123458846C>T	uc003ieh.1	+	c.10765C>T	c.(10765-10767)CGT>TGT	p.R3589C	KIAA1109_uc003iel.1_Missense_Mutation_p.R1524C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	hypothetical protein LOC84162	3589					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.168269	58.511961	80.185013	35	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123458846	123458846	8516	4	C	T	T	31	31	KIAA1109	T	1	1
KIAA1109	84162	broad.mit.edu	36	4	123500287	123500287	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123500287G>T	uc003ieh.1	+	c.14761G>T	c.(14761-14763)GAT>TAT	p.D4921Y	KIAA1109_uc003iem.1_Missense_Mutation_p.D1277Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	hypothetical protein LOC84162	4921					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.173184	47.789067	65.882788	31	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123500287	123500287	8516	4	G	T	T	33	33	KIAA1109	T	3	3
ADAD1	132612	broad.mit.edu	36	4	123524491	123524491	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123524491C>A	uc003ieo.1	+	c.449C>A	c.(448-450)TCT>TAT	p.S150Y	ADAD1_uc003iep.1_Missense_Mutation_p.S150Y|ADAD1_uc003ieq.1_Missense_Mutation_p.S132Y	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	150	DRBM.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0														0.266304	110.980471	120.068258	49	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123524491	123524491	232	4	C	A	A	32	32	ADAD1	A	3	3
ADAD1	132612	broad.mit.edu	36	4	123536895	123536895	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123536895G>A	uc003ieo.1	+	c.637G>A	c.(637-639)GTT>ATT	p.V213I	ADAD1_uc003iep.1_Missense_Mutation_p.V213I|ADAD1_uc003ieq.1_Missense_Mutation_p.V195I	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	213					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0														0.429752	145.478296	145.99926	52	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123536895	123536895	232	4	G	A	A	40	40	ADAD1	A	1	1
ADAD1	132612	broad.mit.edu	36	4	123570297	123570297	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123570297G>T	uc003ieo.1	+	c.1684G>T	c.(1684-1686)GGA>TGA	p.G562*	ADAD1_uc003iep.1_Nonsense_Mutation_p.G551*|ADAD1_uc003ieq.1_Nonsense_Mutation_p.G544*	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	562	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0														0.516304	280.318684	280.360839	95	89	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	123570297	123570297	232	4	G	T	T	47	47	ADAD1	T	5	3
IL2	3558	broad.mit.edu	36	4	123596900	123596900	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123596900T>C	uc003ier.1	-	c.146A>G	c.(145-147)AAT>AGT	p.N49S		NM_000586	NP_000577	P60568	IL2_HUMAN	interleukin 2 precursor	49					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of inflammatory response|positive regulation of interleukin-17 production|positive regulation of tissue remodeling|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity				0										34				0.325301	85.111341	87.35123	27	56	TT		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(721;0.185)	Missense_Mutation	SNP	123596900	123596900	7967	4	T	C	C	52	52	IL2	C	4	4
IL21	59067	broad.mit.edu	36	4	123761588	123761588	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123761588C>A	uc003ies.2	-	c.29G>T	c.(28-30)AGG>ATG	p.R10M	IL21_uc010int.1_Missense_Mutation_p.R3M	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	interleukin 21	3					cell maturation|immune response|positive regulation of inflammatory response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|positive regulation of tissue remodeling|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding				0														0.469072	256.893725	257.056384	91	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123761588	123761588	7971	4	C	A	A	24	24	IL21	A	3	3
BBS12	166379	broad.mit.edu	36	4	123883853	123883853	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123883853A>G	uc003ieu.1	+	c.1356A>G	c.(1354-1356)GTA>GTG	p.V452V	BBS12_uc010inu.1_Silent_p.V452V	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	452					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2														0.485714	224.514386	224.537833	68	72	AA		KEEP	---	---	---	---	capture			Silent	SNP	123883853	123883853	1358	4	A	G	G	14	14	BBS12	G	4	4
FGF2	2247	broad.mit.edu	36	4	124016989	124016989	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:124016989G>T	uc003iev.1	+	c.641G>T	c.(640-642)CGT>CTT	p.R214L		NM_002006	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2	214					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)	2					Pentosan Polysulfate(DB00686)					51				0.530769	223.961226	224.06709	69	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124016989	124016989	6085	4	G	T	T	40	40	FGF2	T	3	3
NUDT6	11162	broad.mit.edu	36	4	124058196	124058196	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:124058196C>T	uc003iew.1	-	c.352G>A	c.(352-354)GCA>ACA	p.A118T	NUDT6_uc003iex.1_5'UTR	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	118						mitochondrion|nucleus	growth factor activity|hydrolase activity				0														0.227642	116.171958	132.925186	56	190	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124058196	124058196	11148	4	C	T	T	27	27	NUDT6	T	1	1
SPATA5	166378	broad.mit.edu	36	4	124074843	124074843	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:124074843G>T	uc003iez.2	+	c.647G>T	c.(646-648)AGA>ATA	p.R216I	SPATA5_uc003iey.2_Missense_Mutation_p.R215I	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	216					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0														0.185714	44.454176	57.432309	26	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124074843	124074843	15521	4	G	T	T	33	33	SPATA5	T	3	3
SPATA5	166378	broad.mit.edu	36	4	124078776	124078776	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:124078776G>A	uc003iez.2	+	c.1380G>A	c.(1378-1380)CCG>CCA	p.P460P	SPATA5_uc003iey.2_Silent_p.P459P	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	460					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0														0.534783	361.325138	361.56673	123	107	GG		KEEP	---	---	---	---	capture			Silent	SNP	124078776	124078776	15521	4	G	A	A	37	37	SPATA5	A	1	1
SPATA5	166378	broad.mit.edu	36	4	124087880	124087880	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:124087880C>T	uc003iez.2	+	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	SPATA5_uc003iey.2_Missense_Mutation_p.R500C	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	501					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0														0.272727	48.635998	52.225226	21	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124087880	124087880	15521	4	C	T	T	31	31	SPATA5	T	1	1
SPATA5	166378	broad.mit.edu	36	4	124454606	124454606	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:124454606T>G	uc003iez.2	+	c.2619T>G	c.(2617-2619)ATT>ATG	p.I873M		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	873					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0														0.443396	155.414313	155.709022	47	59	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124454606	124454606	15521	4	T	G	G	62	62	SPATA5	G	4	4
SPRY1	10252	broad.mit.edu	36	4	124542820	124542820	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:124542820C>T	uc003ifa.1	+	c.624C>T	c.(622-624)TGC>TGT	p.C208C	SPRY1_uc003ifb.1_Silent_p.C208C|SPRY1_uc010inv.1_Silent_p.C208C	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	208	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3														0.248945	132.233819	145.806088	59	178	CC		KEEP	---	---	---	---	capture			Silent	SNP	124542820	124542820	15619	4	C	T	T	26	26	SPRY1	T	2	2
ANKRD50	57182	broad.mit.edu	36	4	125810234	125810234	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:125810234T>C	uc003ifg.2	-	c.3648A>G	c.(3646-3648)GAA>GAG	p.E1216E	ANKRD50_uc010inw.1_Silent_p.E1216E	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1216	Ser-rich.									central_nervous_system(1)	1														0.268868	346.076545	366.508638	114	310	TT		KEEP	---	---	---	---	capture			Silent	SNP	125810234	125810234	685	4	T	C	C	60	60	ANKRD50	C	4	4
FAT4	79633	broad.mit.edu	36	4	126457485	126457485	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:126457485G>T	uc003ifj.2	+	c.469G>T	c.(469-471)GAC>TAC	p.D157Y	FAT4_uc003ifh.2_Missense_Mutation_p.D157Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4	157	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10												OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.35	33.433467	34.22943	14	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126457485	126457485	5928	4	G	T	T	33	33	FAT4	T	3	3
FAT4	79633	broad.mit.edu	36	4	126459454	126459454	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:126459454G>A	uc003ifj.2	+	c.2438G>A	c.(2437-2439)GGT>GAT	p.G813D	FAT4_uc003ifh.2_Missense_Mutation_p.G813D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4	813	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.213235	121.240518	141.881241	58	214	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126459454	126459454	5928	4	G	A	A	44	44	FAT4	A	2	2
FAT4	79633	broad.mit.edu	36	4	126460797	126460797	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:126460797G>T	uc003ifj.2	+	c.3781G>T	c.(3781-3783)GAC>TAC	p.D1261Y	FAT4_uc003ifh.2_Missense_Mutation_p.D1261Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4	1261	Cadherin 12.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.15942	31.452072	46.716364	22	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126460797	126460797	5928	4	G	T	T	33	33	FAT4	T	3	3
FAT4	79633	broad.mit.edu	36	4	126609176	126609176	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:126609176G>A	uc003ifj.2	+	c.11959G>A	c.(11959-11961)GAA>AAA	p.E3987K	FAT4_uc003ifh.2_Missense_Mutation_p.E3952K|FAT4_uc003ifi.1_Missense_Mutation_p.E1465K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4	3987	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.143836	31.776169	49.613195	21	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126609176	126609176	5928	4	G	A	A	41	41	FAT4	A	2	2
HSPA4L	22824	broad.mit.edu	36	4	128952178	128952178	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:128952178C>T	uc003ifm.1	+	c.1515C>T	c.(1513-1515)GGC>GGT	p.G505G	HSPA4L_uc010iny.1_Silent_p.G464G	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	505					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.5625	185.73139	186.112292	63	49	CC		KEEP	---	---	---	---	capture			Silent	SNP	128952178	128952178	7712	4	C	T	T	27	27	HSPA4L	T	1	1
PLK4	10733	broad.mit.edu	36	4	129027283	129027283	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:129027283G>T	uc003ifo.1	+	c.1308G>T	c.(1306-1308)AAG>AAT	p.K436N		NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	436					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|protein phosphorylation|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						Colon(135;508 1718 19061 31832 42879)				258				0.226667	33.727861	38.880546	17	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129027283	129027283	12524	4	G	T	T	33	33	PLK4	T	3	3
MFSD8	256471	broad.mit.edu	36	4	129079436	129079436	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:129079436G>A	uc003ifp.1	-	c.706C>T	c.(706-708)CGT>TGT	p.R236C		NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	236	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2														0.520362	339.213647	339.292481	115	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129079436	129079436	9928	4	G	A	A	37	37	MFSD8	A	1	1
LARP1B	55132	broad.mit.edu	36	4	129350478	129350478	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:129350478A>C	uc003iga.1	+	c.2565A>C	c.(2563-2565)GAA>GAC	p.E855D	LARP1B_uc003igc.2_Intron|LARP1B_uc003ige.2_Non-coding_Transcript|LARP1B_uc003igd.2_Non-coding_Transcript|LARP1B_uc010ioa.1_Intron|LARP1B_uc003igf.1_Missense_Mutation_p.E55D	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	855							RNA binding				0														0.112853	49.275349	96.461278	36	283	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129350478	129350478	8952	4	A	C	C	4	4	LARP1B	C	4	4
RAB28	9364	broad.mit.edu	36	4	12992273	12992273	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:12992273T>C	uc003gmu.1	-	c.435A>G	c.(433-435)TTA>TTG	p.L145L	RAB28_uc003gmv.1_Non-coding_Transcript|RAB28_uc003gmt.1_Silent_p.L145L	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family isoform 1	145					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			ovary(1)|skin(1)	2														0.246269	95.328869	103.16848	33	101	TT		KEEP	---	---	---	---	capture			Silent	SNP	12992273	12992273	13375	4	T	C	C	57	57	RAB28	C	4	4
C4orf33	132321	broad.mit.edu	36	4	130250171	130250171	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:130250171A>G	uc003igu.2	+	c.388A>G	c.(388-390)ACA>GCA	p.T130A	C4orf33_uc010ioc.1_Missense_Mutation_p.T130A|C4orf33_uc010iod.1_Missense_Mutation_p.T130A	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	hypothetical protein LOC132321	130				T -> A (in Ref. 1; BAC03568).							0														0.336283	119.017507	121.695744	38	75	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130250171	130250171	2358	4	A	G	G	10	10	C4orf33	G	4	4
MAEA	10296	broad.mit.edu	36	4	1311463	1311463	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1311463C>T	uc003gda.1	+	c.628C>T	c.(628-630)CGG>TGG	p.R210W	MAEA_uc010ibs.1_Missense_Mutation_p.R169W|MAEA_uc003gdb.1_Missense_Mutation_p.R169W|MAEA_uc003gdc.1_Intron|MAEA_uc003gdd.1_Intron|MAEA_uc010ibt.1_Intron|MAEA_uc010ibu.1_5'Flank	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	210	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2														0.221311	60.467438	69.183435	27	95	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		Missense_Mutation	SNP	1311463	1311463	9530	4	C	T	T	23	23	MAEA	T	1	1
MAEA	10296	broad.mit.edu	36	4	1322333	1322333	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1322333G>A	uc003gda.1	+	c.1023G>A	c.(1021-1023)AAG>AAA	p.K341K	MAEA_uc003gdb.1_Silent_p.K300K|MAEA_uc003gdc.1_Silent_p.K273K|MAEA_uc003gdd.1_Non-coding_Transcript|MAEA_uc010ibt.1_Silent_p.K114K|MAEA_uc010ibu.1_Non-coding_Transcript	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	341					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2														0.619048	118.734378	119.51671	39	24	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		Silent	SNP	1322333	1322333	9530	4	G	A	A	33	33	MAEA	A	2	2
PCDH10	57575	broad.mit.edu	36	4	134303590	134303590	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:134303590C>A	uc003iha.1	+	c.2806C>A	c.(2806-2808)CTC>ATC	p.L936I		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	936	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.264706	80.427508	87.24226	36	100	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(193;0.227)	Missense_Mutation	SNP	134303590	134303590	11927	4	C	A	A	32	32	PCDH10	A	3	3
KIAA1530	57654	broad.mit.edu	36	4	1364713	1364713	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1364713C>T	uc003gde.2	+	c.1798C>T	c.(1798-1800)CCG>TCG	p.P600S	KIAA1530_uc010ibv.1_Missense_Mutation_p.P151S	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	600											0														0.43617	110.266168	110.59645	41	53	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		Missense_Mutation	SNP	1364713	1364713	8550	4	C	T	T	26	26	KIAA1530	T	2	2
PCDH18	54510	broad.mit.edu	36	4	138662023	138662023	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:138662023C>T	uc003ihe.2	-	c.3018G>A	c.(3016-3018)TCG>TCA	p.S1006S	PCDH18_uc003ihf.2_Silent_p.S998S|PCDH18_uc003ihg.2_Silent_p.S785S	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	1006	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.253521	85.431021	93.264475	36	106	CC		KEEP	---	---	---	---	capture			Silent	SNP	138662023	138662023	11933	4	C	T	T	23	23	PCDH18	T	1	1
SLC7A11	23657	broad.mit.edu	36	4	139359962	139359962	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:139359962C>T	uc010iof.1	-	c.654G>A	c.(652-654)ACG>ACA	p.T218T		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	218	Extracellular (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding				0	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)									0.251572	91.62422	100.540189	40	119	CC		KEEP	---	---	---	---	capture			Silent	SNP	139359962	139359962	15191	4	C	T	T	27	27	SLC7A11	T	1	1
ELF2	1998	broad.mit.edu	36	4	140201147	140201147	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:140201147C>T	uc003ihp.1	-	c.902G>A	c.(901-903)GGA>GAA	p.G301E	ELF2_uc003ihm.1_Missense_Mutation_p.G253E|ELF2_uc003ihn.1_Missense_Mutation_p.G241E|ELF2_uc003iho.1_Missense_Mutation_p.G224E	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	313					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			ovary(1)	1	all_hematologic(180;0.162)													0.301948	238.942293	249.738553	93	215	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140201147	140201147	5245	4	C	T	T	30	30	ELF2	T	2	2
ELF2	1998	broad.mit.edu	36	4	140202508	140202508	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:140202508T>G	uc003ihp.1	-	c.731A>C	c.(730-732)AAA>ACA	p.K244T	ELF2_uc003ihm.1_Missense_Mutation_p.K196T|ELF2_uc003ihn.1_Missense_Mutation_p.K184T|ELF2_uc003iho.1_Missense_Mutation_p.K167T	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	256	ETS.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			ovary(1)	1	all_hematologic(180;0.162)													0.559322	457.95904	458.690145	132	104	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140202508	140202508	5245	4	T	G	G	64	64	ELF2	G	4	4
ELF2	1998	broad.mit.edu	36	4	140202586	140202586	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:140202586C>T	uc003ihp.1	-	c.653G>A	c.(652-654)TGG>TAG	p.W218*	ELF2_uc003ihm.1_Nonsense_Mutation_p.W170*|ELF2_uc003ihn.1_Nonsense_Mutation_p.W158*|ELF2_uc003iho.1_Nonsense_Mutation_p.W141*	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	230	ETS.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			ovary(1)	1	all_hematologic(180;0.162)													0.269036	129.476865	138.969214	53	144	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	140202586	140202586	5245	4	C	T	T	21	21	ELF2	T	5	2
SCOC	60592	broad.mit.edu	36	4	141519724	141519724	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:141519724G>T	uc003iib.1	+	c.71_splice	c.e3-1	p.D24_splice	SCOC_uc003iid.1_Splice_Site_SNP_p.D24_splice|SCOC_uc003iif.1_Splice_Site_SNP|SCOC_uc003iig.1_Splice_Site_SNP	NM_032547	NP_115936			short coiled-coil protein							Golgi apparatus|nucleus	protein binding				0	all_hematologic(180;0.162)													0.228169	169.770102	193.857339	81	274	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	141519724	141519724	14415	4	G	T	T	33	33	SCOC	T	5	3
ELMOD2	255520	broad.mit.edu	36	4	141676350	141676350	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:141676350C>T	uc003iik.1	+	c.185C>T	c.(184-186)GCG>GTG	p.A62V		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	62					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)													0.465347	127.605077	127.711455	47	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141676350	141676350	5261	4	C	T	T	27	27	ELMOD2	T	1	1
UCP1	7350	broad.mit.edu	36	4	141703774	141703774	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:141703774T>C	uc003iil.1	-	c.568A>G	c.(568-570)ACA>GCA	p.T190A	UCP1_uc003iim.1_Missense_Mutation_p.T189A	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	190	Helical; Name=4; (Potential).|Solcar 2.				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)													0.188571	85.187051	101.056184	33	142	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141703774	141703774	17488	4	T	C	C	57	57	UCP1	C	4	4
TBC1D9	23158	broad.mit.edu	36	4	141763043	141763043	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:141763043T>C	uc010ioj.1	-	c.3557A>G	c.(3556-3558)GAC>GGC	p.D1186G		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1186						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)												0.189655	23.474185	28.730933	11	47	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141763043	141763043	16153	4	T	C	C	58	58	TBC1D9	C	4	4
TBC1D9	23158	broad.mit.edu	36	4	141842158	141842158	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:141842158C>T	uc010ioj.1	-	c.191G>A	c.(190-192)CGA>CAA	p.R64Q		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	64						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)												0.387755	101.494617	102.586192	38	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141842158	141842158	16153	4	C	T	T	31	31	TBC1D9	T	1	1
RNF150	57484	broad.mit.edu	36	4	142108256	142108256	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:142108256G>A	uc003iio.1	-	c.706C>T	c.(706-708)CGA>TGA	p.R236*	RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Nonsense_Mutation_p.R236*	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150	236	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)													0.130769	19.194471	36.428426	17	113	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	142108256	142108256	13928	4	G	A	A	37	37	RNF150	A	5	1
ZNF330	27309	broad.mit.edu	36	4	142373213	142373213	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:142373213G>T	uc003iiq.2	+	c.655G>T	c.(655-657)GAA>TAA	p.E219*		NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	219						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)													0.104762	7.340387	23.660927	11	94	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	142373213	142373213	18440	4	G	T	T	45	45	ZNF330	T	5	3
ZNF330	27309	broad.mit.edu	36	4	142374435	142374435	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:142374435G>A	uc003iiq.2	+	c.805G>A	c.(805-807)GAT>AAT	p.D269N		NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	269	Asp/Glu-rich (acidic).					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)													0.389381	119.568114	120.781291	44	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142374435	142374435	18440	4	G	A	A	37	37	ZNF330	A	1	1
INPP4B	8821	broad.mit.edu	36	4	143248730	143248730	+	Nonsense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:143248730A>C	uc003iix.2	-	c.2340T>G	c.(2338-2340)TAT>TAG	p.Y780*	INPP4B_uc003iiw.2_Nonsense_Mutation_p.Y780*	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	780					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)									564				0.106061	17.455258	37.796318	14	118	AA		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	143248730	143248730	8054	4	A	C	C	4	4	INPP4B	C	5	4
GAB1	2549	broad.mit.edu	36	4	144598297	144598297	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:144598297A>C	uc003ijd.1	+	c.1600A>C	c.(1600-1602)ATT>CTT	p.I534L	GAB1_uc003ije.1_Intron	NM_207123	NP_997006	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform a	526	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)	3	all_hematologic(180;0.158)									114				0.225	23.755674	26.533327	9	31	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144598297	144598297	6399	4	A	C	C	4	4	GAB1	C	4	4
SMARCA5	8467	broad.mit.edu	36	4	144677114	144677114	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:144677114A>C	uc003ijg.1	+	c.1328A>C	c.(1327-1329)AAA>ACA	p.K443T		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	443					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding|RNA polymerase II transcription factor activity			skin(1)	1	all_hematologic(180;0.158)													0.275	130.832273	138.126137	44	116	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144677114	144677114	15269	4	A	C	C	1	1	SMARCA5	C	4	4
SMARCA5	8467	broad.mit.edu	36	4	144688063	144688063	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:144688063G>T	uc003ijg.1	+	c.2729G>T	c.(2728-2730)AGA>ATA	p.R910I		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	910					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding|RNA polymerase II transcription factor activity			skin(1)	1	all_hematologic(180;0.158)													0.177305	40.891462	54.726648	25	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144688063	144688063	15269	4	G	T	T	33	33	SMARCA5	T	3	3
ZNF718	255403	broad.mit.edu	36	4	145143	145143	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:145143G>T	uc003fzt.2	+	c.668G>T	c.(667-669)AGA>ATA	p.R223I	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.1_Non-coding_Transcript|ZNF718_uc003fzw.2_Nonsense_Mutation_p.E3*	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)												0.367347	46.131701	46.891802	18	31	GG		KEEP	---	---	---	---	capture		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	Missense_Mutation	SNP	145143	145143	18717	4	G	T	T	33	33	ZNF718	T	3	3
HHIP	64399	broad.mit.edu	36	4	145799538	145799538	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:145799538G>T	uc003ijs.1	+	c.619G>T	c.(619-621)GAG>TAG	p.E207*	HHIP_uc003ijr.1_Nonsense_Mutation_p.E207*	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein	207						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(180;0.151)													0.25974	86.11178	94.176408	40	114	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0185)	Nonsense_Mutation	SNP	145799538	145799538	7376	4	G	T	T	33	33	HHIP	T	5	3
HHIP	64399	broad.mit.edu	36	4	145848879	145848879	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:145848879G>A	uc003ijs.1	+	c.1267G>A	c.(1267-1269)GAA>AAA	p.E423K		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein	423						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(180;0.151)													0.180556	47.961361	61.781828	26	118	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0185)	Missense_Mutation	SNP	145848879	145848879	7376	4	G	A	A	37	37	HHIP	A	1	1
HHIP	64399	broad.mit.edu	36	4	145854841	145854841	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:145854841C>T	uc003ijs.1	+	c.1438C>T	c.(1438-1440)CTT>TTT	p.L480F		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein	480						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(180;0.151)													0.25	65.843437	72.209095	28	84	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0185)	Missense_Mutation	SNP	145854841	145854841	7376	4	C	T	T	20	20	HHIP	T	2	2
ANAPC10	10393	broad.mit.edu	36	4	146136068	146136068	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:146136068T>G	uc003iju.2	-	c.465A>C	c.(463-465)CAA>CAC	p.Q155H	ANAPC10_uc003ijv.2_Missense_Mutation_p.Q155H|ANAPC10_uc003ijw.2_Missense_Mutation_p.Q155H	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	155	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity				0	all_hematologic(180;0.151)													0.474522	508.370111	508.54635	149	165	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	146136068	146136068	602	4	T	G	G	64	64	ANAPC10	G	4	4
CPEB2	132864	broad.mit.edu	36	4	14618296	14618296	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:14618296C>A	uc003gnk.1	+	c.621C>A	c.(619-621)CTC>CTA	p.L207L	CPEB2_uc003gni.1_Silent_p.L207L|CPEB2_uc003gnj.1_Silent_p.L207L|CPEB2_uc003gnl.1_Silent_p.L207L|CPEB2_uc003gnm.1_Silent_p.L207L|CPEB2_uc003gnn.1_Silent_p.L207L	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	207					regulation of translation	cytoplasm	nucleotide binding|RNA binding				0														0.216867	35.80264	41.943931	18	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	14618296	14618296	3939	4	C	A	A	32	32	CPEB2	A	3	3
ANAPC10	10393	broad.mit.edu	36	4	146222331	146222331	+	Missense_Mutation	SNP	C	T	T	rs35257136	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:146222331C>T	uc003iju.2	-	c.137G>A	c.(136-138)CGA>CAA	p.R46Q	ANAPC10_uc003ijv.2_Missense_Mutation_p.R46Q|ANAPC10_uc003ijw.2_Missense_Mutation_p.R46Q	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	46	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity				0	all_hematologic(180;0.151)													0.245	112.975115	124.823468	49	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	146222331	146222331	602	4	C	T	T	31	31	ANAPC10	T	1	1
ABCE1	6059	broad.mit.edu	36	4	146260750	146260750	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:146260750A>T	uc003ijx.1	+	c.1139A>T	c.(1138-1140)GAA>GTA	p.E380V	ABCE1_uc003ijy.1_Missense_Mutation_p.E380V|ABCE1_uc010iot.1_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	380	ABC transporter 2.|ATP 2 (Potential).				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity				0	all_hematologic(180;0.151)													0.369565	84.215562	85.594667	34	58	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	146260750	146260750	65	4	A	T	T	9	9	ABCE1	T	4	4
OTUD4	54726	broad.mit.edu	36	4	146278645	146278645	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:146278645T>G	uc003ika.2	-	c.2537A>C	c.(2536-2538)GAG>GCG	p.E846A	OTUD4_uc003ijz.2_Missense_Mutation_p.E845A	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	910							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)													0.238462	76.654472	84.787306	31	99	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	146278645	146278645	11727	4	T	G	G	54	54	OTUD4	G	4	4
OTUD4	54726	broad.mit.edu	36	4	146300212	146300212	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:146300212C>A	uc003ika.2	-	c.327G>T	c.(325-327)GAG>GAT	p.E109D	OTUD4_uc003ijz.2_Missense_Mutation_p.E109D|OTUD4_uc003ikb.2_Missense_Mutation_p.E109D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	174							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)													0.228448	110.836031	126.547154	53	179	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	146300212	146300212	11727	4	C	A	A	32	32	OTUD4	A	3	3
SMAD1	4086	broad.mit.edu	36	4	146655587	146655587	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:146655587C>A	uc003ikc.1	+	c.372C>A	c.(370-372)CCC>CCA	p.P124P	SMAD1_uc003ikd.1_Silent_p.P124P|SMAD1_uc010iov.1_Silent_p.P124P	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	124	MH1.				BMP signaling pathway|embryonic pattern specification|primary microRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					Pancreas(182;1287 2092 10326 35158 50562)								0.177778	99.683516	130.515401	56	259	CC		KEEP	---	---	---	---	capture			Silent	SNP	146655587	146655587	15255	4	C	A	A	24	24	SMAD1	A	3	3
SLC10A7	84068	broad.mit.edu	36	4	147466592	147466592	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:147466592C>T	uc010ioz.1	-	c.442G>A	c.(442-444)GTT>ATT	p.V148I	SLC10A7_uc003ikr.1_Missense_Mutation_p.V148I|SLC10A7_uc010ipa.1_Missense_Mutation_p.V135I|SLC10A7_uc003iks.1_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	148	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)													0.288889	31.754903	33.554064	13	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	147466592	147466592	14874	4	C	T	T	19	19	SLC10A7	T	1	1
TTC29	83894	broad.mit.edu	36	4	148044332	148044332	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:148044332C>A	uc003ikx.2	-	c.479_splice	c.e7-1	p.E160_splice	TTC29_uc003ikw.2_Splice_Site_SNP_p.E134_splice|TTC29_uc010ipc.1_Splice_Site_SNP|TTC29_uc010ipd.1_Splice_Site_SNP_p.E134_splice	NM_031956	NP_114162			tetratricopeptide repeat domain 29								binding				0	all_hematologic(180;0.151)													0.25641	22.234316	24.331462	10	29	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	148044332	148044332	17251	4	C	A	A	32	32	TTC29	A	5	3
EDNRA	1909	broad.mit.edu	36	4	148673176	148673176	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:148673176T>C	uc003iky.2	+	c.617T>C	c.(616-618)ATT>ACT	p.I206T	EDNRA_uc010ipe.1_3'UTR|EDNRA_uc010ipf.1_Intron|EDNRA_uc010ipg.1_Intron	NM_001957	NP_001948	P25101	EDNRA_HUMAN	endothelin receptor type A	206	Helical; Name=4; (Potential).				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|breast(1)	2	all_hematologic(180;0.151)				Bosentan(DB00559)					133				0.224615	198.733411	221.357754	73	252	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.154)	Missense_Mutation	SNP	148673176	148673176	5106	4	T	C	C	52	52	EDNRA	C	4	4
EDNRA	1909	broad.mit.edu	36	4	148676481	148676481	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:148676481C>T	uc003iky.2	+	c.750C>T	c.(748-750)TTC>TTT	p.F250F	EDNRA_uc010ipf.1_Non-coding_Transcript|EDNRA_uc010ipg.1_Silent_p.F141F	NM_001957	NP_001948	P25101	EDNRA_HUMAN	endothelin receptor type A	250	Extracellular (Potential).				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|breast(1)	2	all_hematologic(180;0.151)				Bosentan(DB00559)					133				0.199377	132.330816	159.457772	64	257	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.154)	Silent	SNP	148676481	148676481	5106	4	C	T	T	32	32	EDNRA	T	2	2
ARHGAP10	79658	broad.mit.edu	36	4	149015632	149015632	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:149015632G>A	uc003ilf.1	+	c.713G>A	c.(712-714)CGA>CAA	p.R238Q		NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	238	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)												0.192308	29.279759	36.17745	15	63	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0423)	Missense_Mutation	SNP	149015632	149015632	873	4	G	A	A	37	37	ARHGAP10	A	1	1
NR3C2	4306	broad.mit.edu	36	4	149576828	149576828	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:149576828G>T	uc003ilj.2	-	c.635C>A	c.(634-636)TCT>TAT	p.S212Y	NR3C2_uc003ilk.2_Missense_Mutation_p.S212Y|NR3C2_uc010iph.1_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	212	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)				Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	Melanoma(27;428 957 40335 51025 51111)								0.25	58.434311	64.808226	28	84	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0614)	Missense_Mutation	SNP	149576828	149576828	11036	4	G	T	T	33	33	NR3C2	T	3	3
NR3C2	4306	broad.mit.edu	36	4	149576986	149576986	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:149576986C>T	uc003ilj.2	-	c.477G>A	c.(475-477)ACG>ACA	p.T159T	NR3C2_uc003ilk.2_Silent_p.T159T|NR3C2_uc010iph.1_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	159	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)				Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	Melanoma(27;428 957 40335 51025 51111)								0.197425	84.747222	104.602625	46	187	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0614)	Silent	SNP	149576986	149576986	11036	4	C	T	T	27	27	NR3C2	T	1	1
CC2D2A	57545	broad.mit.edu	36	4	15125470	15125470	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15125470C>A	uc010idv.1	+	c.760C>A	c.(760-762)CTA>ATA	p.L254I	CC2D2A_uc003gnw.1_Missense_Mutation_p.L254I|CC2D2A_uc003gnx.1_Missense_Mutation_p.L205I|CC2D2A_uc003gnv.1_Missense_Mutation_p.L254I	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	254					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3														0.310345	88.748803	92.470554	36	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15125470	15125470	2848	4	C	A	A	24	24	CC2D2A	A	3	3
DCLK2	166614	broad.mit.edu	36	4	151372973	151372973	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:151372973G>A	uc003ilo.2	+	c.1385G>A	c.(1384-1386)CGC>CAC	p.R462H	DCLK2_uc003ilm.2_Missense_Mutation_p.R445H|DCLK2_uc003iln.2_Missense_Mutation_p.R444H|DCLK2_uc003ilp.2_Non-coding_Transcript	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin and CaM kinase-like 2 isoform a	445	Protein kinase.				intracellular signal transduction|protein phosphorylation	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					GBM(195;186 2215 13375 16801 37459)				411				0.161804	94.429653	135.461712	61	316	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151372973	151372973	4463	4	G	A	A	38	38	DCLK2	A	1	1
LRBA	987	broad.mit.edu	36	4	151824204	151824204	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:151824204A>C	uc010ipj.1	-	c.5870T>G	c.(5869-5871)ATT>AGT	p.I1957S	LRBA_uc003ilu.2_Missense_Mutation_p.I1957S|LRBA_uc003ilt.2_Missense_Mutation_p.I616S	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1957						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.272727	212.531421	224.795002	72	192	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151824204	151824204	9304	4	A	C	C	4	4	LRBA	C	4	4
LRBA	987	broad.mit.edu	36	4	151992592	151992592	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:151992592C>T	uc010ipj.1	-	c.3720G>A	c.(3718-3720)AAG>AAA	p.K1240K	LRBA_uc003ilu.2_Silent_p.K1240K|LRBA_uc003ilt.2_5'Flank	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1240						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.236994	94.17033	105.129546	41	132	CC		KEEP	---	---	---	---	capture			Silent	SNP	151992592	151992592	9304	4	C	T	T	32	32	LRBA	T	2	2
LRBA	987	broad.mit.edu	36	4	152033716	152033716	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:152033716A>G	uc010ipj.1	-	c.2103T>C	c.(2101-2103)GTT>GTC	p.V701V	LRBA_uc003ilu.2_Silent_p.V701V|LRBA_uc010ipk.1_3'UTR	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	701						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.247059	57.537817	62.483861	21	64	AA		KEEP	---	---	---	---	capture			Silent	SNP	152033716	152033716	9304	4	A	G	G	5	5	LRBA	G	4	4
LRBA	987	broad.mit.edu	36	4	152046528	152046528	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:152046528C>T	uc010ipj.1	-	c.1667G>A	c.(1666-1668)AGT>AAT	p.S556N	LRBA_uc003ilu.2_Missense_Mutation_p.S556N|LRBA_uc010ipk.1_Missense_Mutation_p.S475N	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	556						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.205882	63.548771	74.439629	28	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152046528	152046528	9304	4	C	T	T	20	20	LRBA	T	2	2
CC2D2A	57545	broad.mit.edu	36	4	15211960	15211960	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15211960C>A	uc010idv.1	+	c.4677C>A	c.(4675-4677)TTC>TTA	p.F1559L	CC2D2A_uc003gnw.1_Missense_Mutation_p.F1500L|CC2D2A_uc003gnx.1_Missense_Mutation_p.F1451L|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1559					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3														0.291667	33.027664	34.895771	14	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15211960	15211960	2848	4	C	A	A	32	32	CC2D2A	A	3	3
SH3D19	152503	broad.mit.edu	36	4	152262803	152262803	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:152262803C>A	uc010ipl.1	-	c.2254G>T	c.(2254-2256)GAT>TAT	p.D752Y	SH3D19_uc003imb.2_Missense_Mutation_p.D510Y|SH3D19_uc003imc.2_Missense_Mutation_p.D696Y|SH3D19_uc003ime.2_Missense_Mutation_p.D732Y	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	755	SH3 5.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)	1	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)												0.430233	191.197476	191.93189	74	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152262803	152262803	14740	4	C	A	A	32	32	SH3D19	A	3	3
SH3D19	152503	broad.mit.edu	36	4	152280400	152280400	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:152280400A>G	uc010ipl.1	-	c.1493T>C	c.(1492-1494)GTC>GCC	p.V498A	SH3D19_uc003imb.2_Missense_Mutation_p.V256A|SH3D19_uc003imc.2_Missense_Mutation_p.V442A|SH3D19_uc003ime.2_Missense_Mutation_p.V478A	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	501	SH3 2.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)	1	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)												0.323529	69.031612	70.908659	22	46	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152280400	152280400	14740	4	A	G	G	10	10	SH3D19	G	4	4
SH3D19	152503	broad.mit.edu	36	4	152315356	152315356	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:152315356C>T	uc010ipl.1	-	c.601G>A	c.(601-603)GAT>AAT	p.D201N	SH3D19_uc003imc.2_Missense_Mutation_p.D204N|SH3D19_uc003ime.2_Missense_Mutation_p.D204N|SH3D19_uc010ipm.1_Missense_Mutation_p.D204N	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	204	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)	1	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)												0.365979	567.651471	576.829919	213	369	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152315356	152315356	14740	4	C	T	T	31	31	SH3D19	T	1	1
SH3D19	152503	broad.mit.edu	36	4	152315434	152315434	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:152315434C>A	uc010ipl.1	-	c.523G>T	c.(523-525)GCA>TCA	p.A175S	SH3D19_uc003imc.2_Missense_Mutation_p.A178S|SH3D19_uc003ime.2_Missense_Mutation_p.A178S|SH3D19_uc010ipm.1_Missense_Mutation_p.A178S	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	178	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)	1	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)												0.21885	273.222032	318.855744	137	489	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152315434	152315434	14740	4	C	A	A	28	28	SH3D19	A	3	3
SH3D19	152503	broad.mit.edu	36	4	152315741	152315741	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:152315741T>C	uc010ipl.1	-	c.216A>G	c.(214-216)AGA>AGG	p.R72R	SH3D19_uc003imc.2_Silent_p.R75R|SH3D19_uc003ime.2_Silent_p.R75R|SH3D19_uc010ipm.1_Silent_p.R75R	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	75					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)	1	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)												0.22314	141.634532	158.683327	54	188	TT		KEEP	---	---	---	---	capture			Silent	SNP	152315741	152315741	14740	4	T	C	C	58	58	SH3D19	C	4	4
FBXL5	26234	broad.mit.edu	36	4	15236191	15236191	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15236191C>T	uc003goc.1	-	c.1632G>A	c.(1630-1632)GCG>GCA	p.A544A	FBXL5_uc010idw.1_Silent_p.A457A|FBXL5_uc003gob.1_Silent_p.A418A|FBXL5_uc010idx.1_Silent_p.A543A|FBXL5_uc003god.1_Silent_p.A527A|FBXL5_uc010idy.1_Silent_p.A544A	NM_012161	NP_277077	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	544					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0														0.316667	43.289999	45.091319	19	41	CC		KEEP	---	---	---	---	capture			Silent	SNP	15236191	15236191	5959	4	C	T	T	19	19	FBXL5	T	1	1
FBXL5	26234	broad.mit.edu	36	4	15238744	15238744	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15238744C>T	uc003goc.1	-	c.903G>A	c.(901-903)GCG>GCA	p.A301A	FBXL5_uc010idw.1_Silent_p.A214A|FBXL5_uc003gob.1_Silent_p.A175A|FBXL5_uc010idx.1_Silent_p.A300A|FBXL5_uc003god.1_Silent_p.A284A|FBXL5_uc010idy.1_Silent_p.A301A	NM_012161	NP_277077	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	301					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0														0.295775	55.8489	58.496846	21	50	CC		KEEP	---	---	---	---	capture			Silent	SNP	15238744	15238744	5959	4	C	T	T	23	23	FBXL5	T	1	1
FBXL5	26234	broad.mit.edu	36	4	15255357	15255357	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15255357C>T	uc003goc.1	-	c.157G>A	c.(157-159)GAG>AAG	p.E53K	FBXL5_uc010idw.1_5'UTR|FBXL5_uc003gob.1_5'UTR|FBXL5_uc010idx.1_Missense_Mutation_p.E53K|FBXL5_uc003god.1_Missense_Mutation_p.E36K|FBXL5_uc010idy.1_Missense_Mutation_p.E53K	NM_012161	NP_277077	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	53	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0														0.484536	140.115637	140.136028	47	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15255357	15255357	5959	4	C	T	T	30	30	FBXL5	T	2	2
BST1	683	broad.mit.edu	36	4	15326482	15326482	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15326482C>T	uc003goh.2	+	c.666C>T	c.(664-666)ATC>ATT	p.I222I	BST1_uc003goi.1_Silent_p.I33I	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	222					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1														0.176	40.269118	52.644755	22	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	15326482	15326482	1565	4	C	T	T	31	31	BST1	T	1	1
FBXW7	55294	broad.mit.edu	36	4	153466773	153466773	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:153466773A>G	uc003ims.1	-	c.1479T>C	c.(1477-1479)TGT>TGC	p.C493C	FBXW7_uc003imq.1_Silent_p.C413C|FBXW7_uc003imr.1_Silent_p.C375C|FBXW7_uc003imt.1_Silent_p.C493C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	493	WD 3.				interspecies interaction between organisms|negative regulation of DNA endoreduplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(123)|large_intestine(99)|stomach(16)|endometrium(13)|ovary(9)|biliary_tract(8)|lung(4)|central_nervous_system(3)|kidney(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|skin(1)|NS(1)|bone(1)	289	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)								266				0.170854	72.638161	93.023152	34	165	AA		KEEP	---	---	---	---	capture			Silent	SNP	153466773	153466773	6006	4	A	G	G	2	2	FBXW7	G	4	4
TMEM154	201799	broad.mit.edu	36	4	153783695	153783695	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:153783695C>A	uc003imw.1	-	c.473G>T	c.(472-474)AGA>ATA	p.R158I		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	transmembrane protein 154	158	Cytoplasmic (Potential).					integral to membrane					0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)												0.338889	149.496363	153.63864	61	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153783695	153783695	16604	4	C	A	A	32	32	TMEM154	A	3	3
TIGD4	201798	broad.mit.edu	36	4	153910184	153910184	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:153910184C>T	uc003imy.1	-	c.1423G>A	c.(1423-1425)GCA>ACA	p.A475T	TIGD4_uc010ipo.1_Missense_Mutation_p.A475T	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	475						chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)													0.384615	190.697887	192.825059	70	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153910184	153910184	16427	4	C	T	T	26	26	TIGD4	T	2	2
TIGD4	201798	broad.mit.edu	36	4	153911098	153911098	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:153911098T>C	uc003imy.1	-	c.509A>G	c.(508-510)TAT>TGT	p.Y170C	TIGD4_uc010ipo.1_Missense_Mutation_p.Y170C	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	170						chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)													0.368794	166.080172	168.206733	52	89	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153911098	153911098	16427	4	T	C	C	49	49	TIGD4	C	4	4
FHDC1	85462	broad.mit.edu	36	4	154084070	154084070	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154084070C>A	uc003inf.2	+	c.411C>A	c.(409-411)CTC>CTA	p.L137L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	137	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)													0.370229	246.779871	250.666808	97	165	CC		KEEP	---	---	---	---	capture			Silent	SNP	154084070	154084070	6114	4	C	A	A	32	32	FHDC1	A	3	3
FHDC1	85462	broad.mit.edu	36	4	154101356	154101356	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154101356C>T	uc003inf.2	+	c.760C>T	c.(760-762)CGG>TGG	p.R254W		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	254	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)													0.29078	102.61471	108.146773	41	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154101356	154101356	6114	4	C	T	T	31	31	FHDC1	T	1	1
FHDC1	85462	broad.mit.edu	36	4	154103665	154103665	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154103665C>T	uc003inf.2	+	c.962C>T	c.(961-963)TCT>TTT	p.S321F		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	321	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)													0.221453	146.361999	166.991312	64	225	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154103665	154103665	6114	4	C	T	T	32	32	FHDC1	T	2	2
FHDC1	85462	broad.mit.edu	36	4	154117044	154117044	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154117044C>A	uc003inf.2	+	c.3151C>A	c.(3151-3153)CTT>ATT	p.L1051I		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1051					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)													0.40113	180.467283	181.985618	71	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154117044	154117044	6114	4	C	A	A	32	32	FHDC1	A	3	3
CD38	952	broad.mit.edu	36	4	15451236	15451236	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15451236A>T	uc003gol.1	+	c.816A>T	c.(814-816)CAA>CAT	p.Q272H	CD38_uc010idz.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	272	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity|transcription activator activity|transcription repressor activity			ovary(2)	2														0.563158	342.204583	342.861202	107	83	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15451236	15451236	3137	4	A	T	T	4	4	CD38	T	4	4
MND1	84057	broad.mit.edu	36	4	154555364	154555364	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154555364G>A	uc003ink.1	+	c.523G>A	c.(523-525)GCA>ACA	p.A175T		NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	GAJ protein	175					DNA recombination|meiosis	nucleus	DNA binding				0	all_hematologic(180;0.093)													0.5	158.319257	158.319257	55	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154555364	154555364	10066	4	G	A	A	38	38	MND1	A	1	1
KIAA0922	23240	broad.mit.edu	36	4	154722135	154722135	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154722135G>A	uc003inm.2	+	c.865G>A	c.(865-867)GTA>ATA	p.V289I	KIAA0922_uc010ipp.1_Missense_Mutation_p.V289I|KIAA0922_uc010ipq.1_Missense_Mutation_p.V141I|KIAA0922_uc010ipr.1_Missense_Mutation_p.V141I	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	289	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(180;0.093)	Renal(120;0.118)												0.214815	59.495548	69.638403	29	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154722135	154722135	8508	4	G	A	A	40	40	KIAA0922	A	1	1
KIAA0922	23240	broad.mit.edu	36	4	154743975	154743975	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154743975A>G	uc003inm.2	+	c.2707A>G	c.(2707-2709)ACA>GCA	p.T903A	KIAA0922_uc010ipp.1_Missense_Mutation_p.T904A|KIAA0922_uc010ipq.1_Missense_Mutation_p.T672A|KIAA0922_uc010ipr.1_Missense_Mutation_p.T756A	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	903	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(180;0.093)	Renal(120;0.118)												0.387097	241.070556	243.143884	72	114	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154743975	154743975	8508	4	A	G	G	2	2	KIAA0922	G	4	4
KIAA0922	23240	broad.mit.edu	36	4	154761461	154761461	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154761461G>T	uc003inm.2	+	c.3668G>T	c.(3667-3669)AGG>ATG	p.R1223M	KIAA0922_uc010ipq.1_Missense_Mutation_p.R992M|KIAA0922_uc010ipr.1_Missense_Mutation_p.R1076M	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1223	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(180;0.093)	Renal(120;0.118)												0.138393	40.26761	68.598141	31	193	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154761461	154761461	8508	4	G	T	T	35	35	KIAA0922	T	3	3
TLR2	7097	broad.mit.edu	36	4	154843825	154843825	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154843825G>A	uc003inq.1	+	c.316G>A	c.(316-318)GAC>AAC	p.D106N	TLR2_uc003inr.1_Missense_Mutation_p.D106N|TLR2_uc003ins.1_Missense_Mutation_p.D106N|TLR2_uc010ipt.1_Missense_Mutation_p.D106N	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2	106	LRR 3.|Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding				0	all_hematologic(180;0.093)	Renal(120;0.117)												0.493333	218.133937	218.139934	74	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154843825	154843825	16481	4	G	A	A	33	33	TLR2	A	2	2
DCHS2	54798	broad.mit.edu	36	4	155376747	155376747	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155376747G>A	uc003inw.1	-	c.7142C>T	c.(7141-7143)GCT>GTT	p.A2381V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2381	Cadherin 21.				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)												0.212389	107.387011	124.659124	48	178	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(193;0.107)	Missense_Mutation	SNP	155376747	155376747	4459	4	G	A	A	34	34	DCHS2	A	2	2
DCHS2	54798	broad.mit.edu	36	4	155400323	155400323	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155400323A>T	uc003inw.1	-	c.5248T>A	c.(5248-5250)TTT>ATT	p.F1750I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1750	Cadherin 15.				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)												0.173611	41.283408	55.773351	25	119	AA		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(193;0.107)	Missense_Mutation	SNP	155400323	155400323	4459	4	A	T	T	1	1	DCHS2	T	4	4
FGFBP1	9982	broad.mit.edu	36	4	15546956	15546956	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15546956G>A	uc003gom.1	-	c.398C>T	c.(397-399)GCT>GTT	p.A133V	FGFBP1_uc010iea.1_Missense_Mutation_p.A133V	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	133					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding				0														0.299492	150.137181	157.22129	59	138	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15546956	15546956	6097	4	G	A	A	34	34	FGFBP1	A	2	2
DCHS2	54798	broad.mit.edu	36	4	155497925	155497925	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155497925T>C	uc003inw.1	-	c.696A>G	c.(694-696)GGA>GGG	p.G232G	DCHS2_uc003inx.1_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	232	Cadherin 2.				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)												0.213836	89.44689	101.497534	34	125	TT		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(193;0.107)	Silent	SNP	155497925	155497925	4459	4	T	C	C	58	58	DCHS2	C	4	4
PLRG1	5356	broad.mit.edu	36	4	155681213	155681213	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155681213G>A	uc003iny.1	-	c.922C>T	c.(922-924)CGA>TGA	p.R308*	PLRG1_uc003inz.1_Nonsense_Mutation_p.R299*	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	308	WD 3.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)												0.236842	80.219597	89.844454	36	116	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	155681213	155681213	12532	4	G	A	A	37	37	PLRG1	A	5	1
FGA	2243	broad.mit.edu	36	4	155725167	155725167	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155725167C>T	uc003iod.1	-	c.2160G>A	c.(2158-2160)AGG>AGA	p.R720R		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	720	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	NSCLC(143;340 1922 20892 22370 48145)								0.471338	448.161238	448.38668	148	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	155725167	155725167	6067	4	C	T	T	22	22	FGA	T	2	2
FGA	2243	broad.mit.edu	36	4	155725239	155725239	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155725239G>A	uc003iod.1	-	c.2088C>T	c.(2086-2088)TTC>TTT	p.F696F		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	696	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	NSCLC(143;340 1922 20892 22370 48145)								0.236453	104.997106	117.889311	48	155	GG		KEEP	---	---	---	---	capture			Silent	SNP	155725239	155725239	6067	4	G	A	A	37	37	FGA	A	1	1
FGFBP2	83888	broad.mit.edu	36	4	15573757	15573757	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15573757C>T	uc003gon.1	-	c.94G>A	c.(94-96)GAA>AAA	p.E32K	FGFBP2_uc010ieb.1_Missense_Mutation_p.E32K	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	32						extracellular space	growth factor binding				0														0.272189	109.176917	117.084604	46	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15573757	15573757	6098	4	C	T	T	30	30	FGFBP2	T	2	2
MAP9	79884	broad.mit.edu	36	4	156493254	156493254	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:156493254T>C	uc003ios.1	-	c.1765A>G	c.(1765-1767)AGA>GGA	p.R589G	MAP9_uc010iqa.1_Non-coding_Transcript	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	589	Potential.				cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)												0.539474	146.082299	146.185532	41	35	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.143)	Missense_Mutation	SNP	156493254	156493254	9653	4	T	C	C	56	56	MAP9	C	4	4
MAP9	79884	broad.mit.edu	36	4	156513767	156513767	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:156513767C>A	uc003ios.1	-	c.452G>T	c.(451-453)AGA>ATA	p.R151I	MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.R151I|MAP9_uc010iqb.1_Missense_Mutation_p.R79I	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	151					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)												0.234694	47.867862	54.185388	23	75	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.143)	Missense_Mutation	SNP	156513767	156513767	9653	4	C	A	A	32	32	MAP9	A	3	3
GUCY1A3	2982	broad.mit.edu	36	4	156851397	156851397	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:156851397C>A	uc003iov.1	+	c.630C>A	c.(628-630)ACC>ACA	p.T210T	GUCY1A3_uc003iou.1_Silent_p.T210T|GUCY1A3_uc010iqc.1_Silent_p.T210T|GUCY1A3_uc010iqd.1_Silent_p.T209T|GUCY1A3_uc003iow.1_Silent_p.T210T|GUCY1A3_uc003iox.1_Silent_p.T210T|GUCY1A3_uc003ioy.1_Silent_p.T210T|GUCY1A3_uc010iqe.1_5'UTR|GUCY1A3_uc003ioz.1_5'UTR|GUCY1A3_uc003ipa.1_Intron|GUCY1A3_uc003ipb.1_Silent_p.T210T	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	210					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)	3	all_hematologic(180;0.24)	Renal(120;0.0854)												0.220513	90.010557	104.045615	43	152	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.17)	Silent	SNP	156851397	156851397	7174	4	C	A	A	21	21	GUCY1A3	A	3	3
GUCY1A3	2982	broad.mit.edu	36	4	156851606	156851606	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:156851606C>T	uc003iov.1	+	c.839C>T	c.(838-840)TCG>TTG	p.S280L	GUCY1A3_uc003iou.1_Missense_Mutation_p.S280L|GUCY1A3_uc010iqc.1_Missense_Mutation_p.S280L|GUCY1A3_uc010iqd.1_Missense_Mutation_p.S279L|GUCY1A3_uc003iow.1_Missense_Mutation_p.S280L|GUCY1A3_uc003iox.1_Missense_Mutation_p.S280L|GUCY1A3_uc003ioy.1_Missense_Mutation_p.S280L|GUCY1A3_uc010iqe.1_Missense_Mutation_p.S45L|GUCY1A3_uc003ioz.1_Missense_Mutation_p.S45L|GUCY1A3_uc003ipa.1_Intron|GUCY1A3_uc003ipb.1_Missense_Mutation_p.S280L	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	280					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)	3	all_hematologic(180;0.24)	Renal(120;0.0854)												0.909091	565.120114	598.51631	180	18	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.17)	Missense_Mutation	SNP	156851606	156851606	7174	4	C	T	T	31	31	GUCY1A3	T	1	1
ACCN5	51802	broad.mit.edu	36	4	156970518	156970518	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:156970518G>T	uc003ipe.1	-	c.1458C>A	c.(1456-1458)ACC>ACA	p.T486T		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	486	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)												0.457447	121.908469	122.057303	43	51	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	Silent	SNP	156970518	156970518	133	4	G	T	T	43	43	ACCN5	T	3	3
ACCN5	51802	broad.mit.edu	36	4	156972514	156972514	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:156972514C>A	uc003ipe.1	-	c.1239G>T	c.(1237-1239)GAG>GAT	p.E413D		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	413	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)												0.16996	69.144833	95.250032	43	210	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	Missense_Mutation	SNP	156972514	156972514	133	4	C	A	A	32	32	ACCN5	A	3	3
ACCN5	51802	broad.mit.edu	36	4	156992822	156992822	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:156992822C>T	uc003ipe.1	-	c.682G>A	c.(682-684)GGT>AGT	p.G228S		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	228	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)												0.219008	129.731478	147.347904	53	189	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	Missense_Mutation	SNP	156992822	156992822	133	4	C	T	T	24	24	ACCN5	T	2	2
TAPT1	202018	broad.mit.edu	36	4	15824607	15824607	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15824607A>G	uc010ied.1	-	c.212T>C	c.(211-213)TTG>TCG	p.L71S	TAPT1_uc003gow.2_Intron	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	71						integral to membrane	growth hormone-releasing hormone receptor activity				0														0.164706	30.103398	39.168522	14	71	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15824607	15824607	16075	4	A	G	G	5	5	TAPT1	G	4	4
GLRB	2743	broad.mit.edu	36	4	158311212	158311212	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:158311212C>A	uc003ipj.2	+	c.1376C>A	c.(1375-1377)CCT>CAT	p.P459H		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta	459	Cytoplasmic (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)			Glycine(DB00145)									0.28866	134.406506	142.184666	56	138	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Missense_Mutation	SNP	158311212	158311212	6726	4	C	A	A	24	24	GLRB	A	3	3
FAM198B	51313	broad.mit.edu	36	4	159271408	159271408	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:159271408T>G	uc003ipq.2	-	c.1356A>C	c.(1354-1356)AAA>AAC	p.K452N	FAM198B_uc003ipp.2_Missense_Mutation_p.K444N|FAM198B_uc003ipr.2_Missense_Mutation_p.K444N	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 1	444	Extracellular (Potential).					Golgi membrane|integral to membrane					0														0.508621	214.635298	214.643011	59	57	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159271408	159271408	5743	4	T	G	G	52	52	FAM198B	G	4	4
FAM198B	51313	broad.mit.edu	36	4	159311222	159311222	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:159311222G>A	uc003ipq.2	-	c.756C>T	c.(754-756)GGC>GGT	p.G252G	FAM198B_uc003ipp.2_Silent_p.G252G|FAM198B_uc003ipr.2_Silent_p.G252G|FAM198B_uc003ips.2_Silent_p.G252G	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 1	252	Extracellular (Potential).					Golgi membrane|integral to membrane					0												OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.241758	41.589479	47.073842	22	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	159311222	159311222	5743	4	G	A	A	38	38	FAM198B	A	1	1
ETFDH	2110	broad.mit.edu	36	4	159821079	159821079	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:159821079C>A	uc003iqb.1	+	c.45C>A	c.(43-45)TGC>TGA	p.C15*	ETFDH_uc010iqr.1_Intron|ETFDH_uc010iqs.1_5'Flank	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	15					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)												0.336842	86.866774	89.105684	32	63	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.0172)	Nonsense_Mutation	SNP	159821079	159821079	5464	4	C	A	A	28	28	ETFDH	A	5	3
FNIP2	57600	broad.mit.edu	36	4	159999749	159999749	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:159999749C>A	uc003iqe.2	+	c.948C>A	c.(946-948)ATC>ATA	p.I316I		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	316					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)													0.230159	60.098149	68.519908	29	97	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.00936)	Silent	SNP	159999749	159999749	6218	4	C	A	A	32	32	FNIP2	A	3	3
FNIP2	57600	broad.mit.edu	36	4	160009718	160009718	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:160009718G>A	uc003iqe.2	+	c.2480G>A	c.(2479-2481)GGA>GAA	p.G827E		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	827	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)													0.25974	87.292376	95.376228	40	114	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.00936)	Missense_Mutation	SNP	160009718	160009718	6218	4	G	A	A	41	41	FNIP2	A	2	2
RAPGEF2	9693	broad.mit.edu	36	4	160494303	160494303	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:160494303G>A	uc003iqg.2	+	c.3823G>A	c.(3823-3825)GGG>AGG	p.G1275R		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1275					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			upper_aerodigestive_tract(1)|skin(1)	2	all_hematologic(180;0.24)									322				0.469841	430.960374	431.209512	148	167	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.0817)	Missense_Mutation	SNP	160494303	160494303	13504	4	G	A	A	39	39	RAPGEF2	A	1	1
RAPGEF2	9693	broad.mit.edu	36	4	160496561	160496561	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:160496561G>A	uc003iqg.2	+	c.4275G>A	c.(4273-4275)CCG>CCA	p.P1425P		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1425					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			upper_aerodigestive_tract(1)|skin(1)	2	all_hematologic(180;0.24)								p.P1425P(HCC1438-Tumor)	322				0.575	67.728381	67.924621	23	17	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.0817)	Silent	SNP	160496561	160496561	13504	4	G	A	A	38	38	RAPGEF2	A	1	1
RAPGEF2	9693	broad.mit.edu	36	4	160496703	160496703	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:160496703G>A	uc003iqg.2	+	c.4417G>A	c.(4417-4419)GAG>AAG	p.E1473K		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1473					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			upper_aerodigestive_tract(1)|skin(1)	2	all_hematologic(180;0.24)									322				0.238806	34.463385	38.640767	16	51	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.0817)	Missense_Mutation	SNP	160496703	160496703	13504	4	G	A	A	37	37	RAPGEF2	A	1	1
FAM53A	152877	broad.mit.edu	36	4	1613102	1613102	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1613102C>T	uc003gdh.1	-	c.931G>A	c.(931-933)GAT>AAT	p.D311N	FAM53A_uc010ibw.1_3'UTR	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	311						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)												0.253571	163.578099	179.030296	71	209	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		Missense_Mutation	SNP	1613102	1613102	5801	4	C	T	T	31	31	FAM53A	T	1	1
FSTL5	56884	broad.mit.edu	36	4	162678810	162678810	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:162678810C>A	uc003iqh.1	-	c.1270G>T	c.(1270-1272)GAC>TAC	p.D424Y	FSTL5_uc003iqi.1_Missense_Mutation_p.D423Y|FSTL5_uc010iqv.1_Missense_Mutation_p.D423Y	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	424	Ig-like 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)													0.225882	187.946757	217.315326	96	329	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.179)	Missense_Mutation	SNP	162678810	162678810	6331	4	C	A	A	32	32	FSTL5	A	3	3
FSTL5	56884	broad.mit.edu	36	4	163061038	163061038	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:163061038G>A	uc003iqh.1	-	c.377C>T	c.(376-378)ACC>ATC	p.T126I	FSTL5_uc003iqi.1_Missense_Mutation_p.T125I|FSTL5_uc010iqv.1_Missense_Mutation_p.T125I	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	126	Kazal-like.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)													0.186047	29.242322	37.194536	16	70	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.179)	Missense_Mutation	SNP	163061038	163061038	6331	4	G	A	A	44	44	FSTL5	A	2	2
C4orf43	55319	broad.mit.edu	36	4	164658062	164658062	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:164658062A>C	uc003iqq.2	+	c.415A>C	c.(415-417)AAT>CAT	p.N139H		NM_018352	NP_060822	Q96EY4	CD043_HUMAN	hypothetical protein LOC55319	139											0														0.35	161.046695	163.819686	49	91	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	164658062	164658062	2366	4	A	C	C	13	13	C4orf43	C	4	4
TRIM61	391712	broad.mit.edu	36	4	166110522	166110522	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:166110522G>T	uc003iqw.1	-	c.83C>A	c.(82-84)ACC>AAC	p.T28N		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	tripartite motif-containing 61	28	RING-type.					intracellular	zinc ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.109)												0.35443	71.970715	73.448924	28	51	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.155)	Missense_Mutation	SNP	166110522	166110522	17082	4	G	T	T	44	44	TRIM61	T	3	3
TRIM60	166655	broad.mit.edu	36	4	166180937	166180937	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:166180937G>T	uc003iqy.1	+	c.263G>T	c.(262-264)AGA>ATA	p.R88I	TRIM60_uc010iqx.1_Missense_Mutation_p.R88I|TRIM60_uc010iqy.1_Missense_Mutation_p.R88I	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	88						intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)												0.533742	239.70502	239.864236	87	76	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0844)	Missense_Mutation	SNP	166180937	166180937	17081	4	G	T	T	33	33	TRIM60	T	3	3
TRIM60	166655	broad.mit.edu	36	4	166181843	166181843	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:166181843G>A	uc003iqy.1	+	c.1169G>A	c.(1168-1170)CGA>CAA	p.R390Q	TRIM60_uc010iqx.1_Missense_Mutation_p.R390Q|TRIM60_uc010iqy.1_Missense_Mutation_p.R390Q	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	390	B30.2/SPRY.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)												0.284133	183.46468	194.803634	77	194	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0844)	Missense_Mutation	SNP	166181843	166181843	17081	4	G	A	A	37	37	TRIM60	A	1	1
TLL1	7092	broad.mit.edu	36	4	167148580	167148580	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:167148580G>T	uc003irh.1	+	c.847G>T	c.(847-849)GAA>TAA	p.E283*		NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1	283	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)												0.207792	61.70116	73.896526	32	122	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.103)	Nonsense_Mutation	SNP	167148580	167148580	16475	4	G	T	T	33	33	TLL1	T	5	3
TLL1	7092	broad.mit.edu	36	4	167195738	167195738	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:167195738A>C	uc003irh.1	+	c.1585A>C	c.(1585-1587)AAT>CAT	p.N529H		NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1	529	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)												0.510309	340.039623	340.057919	99	95	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.103)	Missense_Mutation	SNP	167195738	167195738	16475	4	A	C	C	1	1	TLL1	C	4	4
TLL1	7092	broad.mit.edu	36	4	167239996	167239996	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:167239996G>A	uc003irh.1	+	c.2774G>A	c.(2773-2775)CGG>CAG	p.R925Q		NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1	925	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)												0.343407	350.161494	358.047565	125	239	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.103)	Missense_Mutation	SNP	167239996	167239996	16475	4	G	A	A	39	39	TLL1	A	1	1
TLL1	7092	broad.mit.edu	36	4	167241355	167241355	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:167241355G>T	uc003irh.1	+	c.2919G>T	c.(2917-2919)GAG>GAT	p.E973D		NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1	973	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)												0.101307	9.659678	58.287033	31	275	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.103)	Missense_Mutation	SNP	167241355	167241355	16475	4	G	T	T	33	33	TLL1	T	3	3
DDX60	55601	broad.mit.edu	36	4	169383314	169383314	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:169383314C>T	uc003irp.1	-	c.4622G>A	c.(4621-4623)CGA>CAA	p.R1541Q	DDX60_uc003iro.2_Missense_Mutation_p.R12Q	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1541							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)												0.398773	178.947904	180.40622	65	98	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0485)	Missense_Mutation	SNP	169383314	169383314	4549	4	C	T	T	31	31	DDX60	T	1	1
DDX60	55601	broad.mit.edu	36	4	169404318	169404318	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:169404318A>G	uc003irp.1	-	c.3990T>C	c.(3988-3990)GGT>GGC	p.G1330G		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1330	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)												0.410714	142.771159	143.563996	46	66	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0485)	Silent	SNP	169404318	169404318	4549	4	A	G	G	10	10	DDX60	G	4	4
DDX60	55601	broad.mit.edu	36	4	169433150	169433150	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:169433150T>G	uc003irp.1	-	c.2225A>C	c.(2224-2226)TAC>TCC	p.Y742S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	742							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)												0.2	75.544186	87.242773	28	112	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0485)	Missense_Mutation	SNP	169433150	169433150	4549	4	T	G	G	57	57	DDX60	G	4	4
DDX60	55601	broad.mit.edu	36	4	169438205	169438205	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:169438205A>G	uc003irp.1	-	c.1834T>C	c.(1834-1836)TTG>CTG	p.L612L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	612							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)												0.212598	69.761989	79.450471	27	100	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0485)	Silent	SNP	169438205	169438205	4549	4	A	G	G	4	4	DDX60	G	4	4
DDX60	55601	broad.mit.edu	36	4	169441265	169441265	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:169441265C>T	uc003irp.1	-	c.1629G>A	c.(1627-1629)GGG>GGA	p.G543G		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	543							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)												0.282258	86.810793	92.070656	35	89	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0485)	Silent	SNP	169441265	169441265	4549	4	C	T	T	30	30	DDX60	T	2	2
DDX60L	91351	broad.mit.edu	36	4	169552235	169552235	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:169552235C>T	uc003irq.2	-	c.3766G>A	c.(3766-3768)GAA>AAA	p.E1256K	DDX60L_uc003irr.1_Missense_Mutation_p.E1257K	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1256	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)												0.515152	100.54563	100.558614	34	32	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.175)	Missense_Mutation	SNP	169552235	169552235	4550	4	C	T	T	32	32	DDX60L	T	2	2
DDX60L	91351	broad.mit.edu	36	4	169563740	169563740	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:169563740C>T	uc003irq.2	-	c.3149G>A	c.(3148-3150)AGA>AAA	p.R1050K	DDX60L_uc003irr.1_Missense_Mutation_p.R1050K|DDX60L_uc003irs.1_Missense_Mutation_p.R745K	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1050							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)												0.395349	48.064092	48.476779	17	26	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.175)	Missense_Mutation	SNP	169563740	169563740	4550	4	C	T	T	32	32	DDX60L	T	2	2
PALLD	23022	broad.mit.edu	36	4	169869604	169869604	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:169869604T>G	uc003iru.1	+	c.1919T>G	c.(1918-1920)CTT>CGT	p.L640R	PALLD_uc003irv.1_Missense_Mutation_p.L258R	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin	640	Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)				Esophageal Squamous(109;1482 1532 18347 40239 51172)								0.263158	46.854092	50.720042	20	56	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.204)	Missense_Mutation	SNP	169869604	169869604	11823	4	T	G	G	56	56	PALLD	G	4	4
SH3RF1	57630	broad.mit.edu	36	4	170294208	170294208	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170294208G>A	uc003isa.1	-	c.904C>T	c.(904-906)CGG>TGG	p.R302W	SH3RF1_uc010irc.1_Missense_Mutation_p.A24V	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	302						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(1)	1		Prostate(90;0.00267)|Renal(120;0.0183)												0.153465	42.79307	66.006115	31	171	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0287)	Missense_Mutation	SNP	170294208	170294208	14750	4	G	A	A	38	38	SH3RF1	A	1	1
NEK1	4750	broad.mit.edu	36	4	170595886	170595886	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170595886G>T	uc003isd.1	-	c.2687C>A	c.(2686-2688)TCT>TAT	p.S896Y	NEK1_uc003isb.1_Missense_Mutation_p.S868Y|NEK1_uc003isc.1_Missense_Mutation_p.S824Y|NEK1_uc003ise.1_Missense_Mutation_p.S852Y|NEK1_uc003isf.1_Missense_Mutation_p.S799Y	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	868					cell division|cilium assembly|mitosis|protein phosphorylation	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)								366				0.454545	40.217522	40.277309	15	18	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	Missense_Mutation	SNP	170595886	170595886	10720	4	G	T	T	33	33	NEK1	T	3	3
NEK1	4750	broad.mit.edu	36	4	170743198	170743198	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170743198G>T	uc003isd.1	-	c.684C>A	c.(682-684)TCC>TCA	p.S228S	NEK1_uc003isb.1_Silent_p.S228S|NEK1_uc003isc.1_Silent_p.S228S|NEK1_uc003ise.1_Silent_p.S228S|NEK1_uc003isf.1_Silent_p.S228S|NEK1_uc003isg.1_Silent_p.S149S	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	228	Protein kinase.				cell division|cilium assembly|mitosis|protein phosphorylation	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)								366				0.159574	24.058434	34.442107	15	79	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	Silent	SNP	170743198	170743198	10720	4	G	T	T	35	35	NEK1	T	3	3
CLCN3	1182	broad.mit.edu	36	4	170855160	170855160	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170855160G>A	uc003ish.1	+	c.1263G>A	c.(1261-1263)ACG>ACA	p.T421T	CLCN3_uc003isi.1_Silent_p.T421T|CLCN3_uc003isj.1_Silent_p.T394T	NM_173872	NP_776297	P51790	CLCN3_HUMAN	chloride channel 3 isoform e	421					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)												0.394052	286.918941	289.551681	106	163	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	Silent	SNP	170855160	170855160	3600	4	G	A	A	37	37	CLCN3	A	1	1
CLCN3	1182	broad.mit.edu	36	4	170855336	170855336	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170855336C>T	uc003ish.1	+	c.1439C>T	c.(1438-1440)GCC>GTC	p.A480V	CLCN3_uc003isi.1_Missense_Mutation_p.A480V|CLCN3_uc003isj.1_Missense_Mutation_p.A453V	NM_173872	NP_776297	P51790	CLCN3_HUMAN	chloride channel 3 isoform e	480					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)												0.21223	121.46776	142.757803	59	219	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	Missense_Mutation	SNP	170855336	170855336	3600	4	C	T	T	26	26	CLCN3	T	2	2
C4orf27	54969	broad.mit.edu	36	4	170899733	170899733	+	Missense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170899733C>G	uc003isl.2	-	c.598G>C	c.(598-600)GGG>CGG	p.G200R		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	hypothetical protein LOC54969	200						nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)												0.446043	184.72323	185.076992	62	77	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	Missense_Mutation	SNP	170899733	170899733	2353	4	C	G	G	22	22	C4orf27	G	3	3
C4orf27	54969	broad.mit.edu	36	4	170911497	170911497	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170911497C>T	uc003isl.2	-	c.113G>A	c.(112-114)CGA>CAA	p.R38Q		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	hypothetical protein LOC54969	38						nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)												0.486957	162.790338	162.807475	56	59	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	Missense_Mutation	SNP	170911497	170911497	2353	4	C	T	T	31	31	C4orf27	T	1	1
MFAP3L	9848	broad.mit.edu	36	4	171149644	171149644	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:171149644G>A	uc003isp.2	-	c.690C>T	c.(688-690)TTC>TTT	p.F230F	MFAP3L_uc003isn.2_Silent_p.F127F|MFAP3L_uc010ird.1_Silent_p.F127F	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	230	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)												0.622642	284.592979	286.679775	99	60	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	Silent	SNP	171149644	171149644	9906	4	G	A	A	37	37	MFAP3L	A	1	1
CLRN2	645104	broad.mit.edu	36	4	17137694	17137694	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:17137694C>T	uc003gpg.1	+	c.590C>T	c.(589-591)TCG>TTG	p.S197L		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	clarin 2	197	Helical; (Potential).					integral to membrane					0														0.583333	226.319959	227.13301	77	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17137694	17137694	3696	4	C	T	T	31	31	CLRN2	T	1	1
CLRN2	645104	broad.mit.edu	36	4	17137764	17137765	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:17137764_17137765CG>TA	uc003gpg.1	+	c.660_661CG>TA	c.(658-663)ATCGAA>ATTAAA	p.E221K		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	clarin 2	221						integral to membrane					0														0.288043	129.289884	136.709265	53	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	17137764	17137765	3696	4	CG	TA	TA	31	31	CLRN2	TA	1	1
GALNTL6	442117	broad.mit.edu	36	4	173967214	173967214	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:173967214C>T	uc003isv.1	+	c.681C>T	c.(679-681)GTC>GTT	p.V227V		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase	227	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)	3														0.219178	65.698391	76.335925	32	114	CC		KEEP	---	---	---	---	capture			Silent	SNP	173967214	173967214	6489	4	C	T	T	30	30	GALNTL6	T	2	2
DCAF16	54876	broad.mit.edu	36	4	17414532	17414532	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:17414532G>A	uc003gpn.1	-	c.331C>T	c.(331-333)CCT>TCT	p.P111S	DCAF16_uc003gpo.2_Non-coding_Transcript|DCAF16_uc010ieh.1_Missense_Mutation_p.P111S	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	hypothetical protein LOC54876	111					protein ubiquitination	CUL4 RING ubiquitin ligase complex				ovary(1)	1														0.273292	215.741995	230.668069	88	234	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17414532	17414532	4439	4	G	A	A	41	41	DCAF16	A	2	2
DCAF16	54876	broad.mit.edu	36	4	17414727	17414727	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:17414727A>C	uc003gpn.1	-	c.136T>G	c.(136-138)TTA>GTA	p.L46V	DCAF16_uc003gpo.2_Non-coding_Transcript|DCAF16_uc010ieh.1_Missense_Mutation_p.L46V	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	hypothetical protein LOC54876	46					protein ubiquitination	CUL4 RING ubiquitin ligase complex				ovary(1)	1														0.346591	175.016081	178.675431	61	115	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17414727	17414727	4439	4	A	C	C	3	3	DCAF16	C	4	4
NCAPG	64151	broad.mit.edu	36	4	17423659	17423659	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:17423659G>T	uc003gpp.1	+	c.337G>T	c.(337-339)GCA>TCA	p.A113S	DCAF16_uc003gpn.1_5'Flank	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	113	HEAT 1.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1														0.309677	124.333677	129.341125	48	107	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(129;0.18)	Missense_Mutation	SNP	17423659	17423659	10606	4	G	T	T	46	46	NCAPG	T	3	3
NCAPG	64151	broad.mit.edu	36	4	17423784	17423784	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:17423784G>A	uc003gpp.1	+	c.462G>A	c.(460-462)AAG>AAA	p.K154K	DCAF16_uc003gpn.1_5'Flank	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	154	HEAT 2.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1														0.569444	255.831678	256.431745	82	62	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(129;0.18)	Silent	SNP	17423784	17423784	10606	4	G	A	A	33	33	NCAPG	A	2	2
GALNT7	51809	broad.mit.edu	36	4	174405740	174405740	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:174405740G>A	uc003isz.2	+	c.161G>A	c.(160-162)CGA>CAA	p.R54Q		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	54	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)	1		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)												0.219298	53.212424	61.489751	25	89	GG		KEEP	---	---	---	---	capture		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	Missense_Mutation	SNP	174405740	174405740	6482	4	G	A	A	37	37	GALNT7	A	1	1
SCRG1	11341	broad.mit.edu	36	4	174548918	174548918	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:174548918C>T	uc003ite.1	-	c.223G>A	c.(223-225)GAA>AAA	p.E75K	SCRG1_uc003itf.1_Non-coding_Transcript	NM_007281	NP_009212	O75711	SCRG1_HUMAN	scrapie responsive protein 1	75					nervous system development	extracellular space					0		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)												0.260062	198.345911	215.189147	84	239	CC		KEEP	---	---	---	---	capture		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)	Missense_Mutation	SNP	174548918	174548918	14418	4	C	T	T	31	31	SCRG1	T	1	1
HPGD	3248	broad.mit.edu	36	4	175679672	175679672	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:175679672C>A	uc003itu.1	-	c.215G>T	c.(214-216)AGA>ATA	p.R72I	HPGD_uc010irp.1_Intron|HPGD_uc003itv.1_Missense_Mutation_p.R72I|HPGD_uc010irq.1_Missense_Mutation_p.R72I|HPGD_uc003itw.1_Missense_Mutation_p.R72I|HPGD_uc003itx.1_Missense_Mutation_p.R72I	NM_000860	NP_000851	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	72					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|oxidation-reduction process|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity				0		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)			NADH(DB00157)									0.461176	522.501439	523.064014	196	229	CC		KEEP	---	---	---	---	capture		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	Missense_Mutation	SNP	175679672	175679672	7626	4	C	A	A	32	32	HPGD	A	3	3
GLRA3	8001	broad.mit.edu	36	4	175816852	175816852	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:175816852C>T	uc003ity.1	-	c.999G>A	c.(997-999)GAG>GAA	p.E333E	GLRA3_uc003itz.1_Silent_p.E333E	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	333	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)			Glycine(DB00145)									0.196809	81.973384	98.06934	37	151	CC		KEEP	---	---	---	---	capture		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Silent	SNP	175816852	175816852	6724	4	C	T	T	20	20	GLRA3	T	2	2
GLRA3	8001	broad.mit.edu	36	4	175834820	175834820	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:175834820C>T	uc003ity.1	-	c.911G>A	c.(910-912)CGA>CAA	p.R304Q	GLRA3_uc003itz.1_Missense_Mutation_p.R304Q	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	304					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)			Glycine(DB00145)									0.305556	55.219716	57.649811	22	50	CC		KEEP	---	---	---	---	capture		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Missense_Mutation	SNP	175834820	175834820	6724	4	C	T	T	31	31	GLRA3	T	1	1
WDR17	116966	broad.mit.edu	36	4	177283270	177283270	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:177283270T>C	uc003iuj.1	+	c.632T>C	c.(631-633)GTT>GCT	p.V211A	WDR17_uc003iuk.1_Missense_Mutation_p.V187A|WDR17_uc003ium.2_Missense_Mutation_p.V187A|WDR17_uc003iul.1_Intron	NM_170710	NP_851782	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	211	WD 3.									ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)												0.411429	238.382282	239.57758	72	103	TT		KEEP	---	---	---	---	capture		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	Missense_Mutation	SNP	177283270	177283270	17850	4	T	C	C	60	60	WDR17	C	4	4
WDR17	116966	broad.mit.edu	36	4	177289775	177289775	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:177289775G>T	uc003iuj.1	+	c.1062G>T	c.(1060-1062)CAG>CAT	p.Q354H	WDR17_uc003iuk.1_Missense_Mutation_p.Q330H|WDR17_uc003ium.2_Missense_Mutation_p.Q330H|WDR17_uc003iul.1_Intron	NM_170710	NP_851782	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	354										ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)												0.132118	63.113869	120.887615	58	381	GG		KEEP	---	---	---	---	capture		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	Missense_Mutation	SNP	177289775	177289775	17850	4	G	T	T	33	33	WDR17	T	3	3
WDR17	116966	broad.mit.edu	36	4	177300135	177300135	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:177300135C>T	uc003iuj.1	+	c.1522C>T	c.(1522-1524)CGA>TGA	p.R508*	WDR17_uc003iuk.1_Nonsense_Mutation_p.R484*|WDR17_uc003ium.2_Nonsense_Mutation_p.R484*|WDR17_uc003iul.1_Intron	NM_170710	NP_851782	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	508	WD 8.									ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)												0.509202	243.014219	243.025952	83	80	CC		KEEP	---	---	---	---	capture		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	Nonsense_Mutation	SNP	177300135	177300135	17850	4	C	T	T	31	31	WDR17	T	5	1
ASB5	140458	broad.mit.edu	36	4	177427102	177427102	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:177427102G>A	uc003iuq.1	-	c.152C>T	c.(151-153)GCG>GTG	p.A51V		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	51					intracellular signal transduction						0		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)												0.24031	66.082811	74.009675	31	98	GG		KEEP	---	---	---	---	capture		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	Missense_Mutation	SNP	177427102	177427102	1044	4	G	A	A	38	38	ASB5	A	1	1
ASB5	140458	broad.mit.edu	36	4	177427186	177427186	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:177427186G>A	uc003iuq.1	-	c.68C>T	c.(67-69)TCG>TTG	p.S23L		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	23					intracellular signal transduction						0		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)												0.50365	199.664368	199.665899	69	68	GG		KEEP	---	---	---	---	capture		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	Missense_Mutation	SNP	177427186	177427186	1044	4	G	A	A	37	37	ASB5	A	1	1
SPCS3	60559	broad.mit.edu	36	4	177485360	177485360	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:177485360G>A	uc003iur.2	+	c.348G>A	c.(346-348)CCG>CCA	p.P116P		NM_021928	NP_068747	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3	116	Lumenal (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(1)	1		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)												0.482759	40.74741	40.754944	14	15	GG		KEEP	---	---	---	---	capture		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	Silent	SNP	177485360	177485360	15535	4	G	A	A	37	37	SPCS3	A	1	1
FGFR3	2261	broad.mit.edu	36	4	1777090	1777090	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1777090C>T	uc003gdr.2	+	c.1541C>T	c.(1540-1542)GCC>GTC	p.A514V	FGFR3_uc003gds.2_Missense_Mutation_p.A402V|FGFR3_uc003gdq.2_Missense_Mutation_p.A515V	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	514	Protein kinase.|Cytoplasmic (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(1980)|skin(310)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)	2398		Breast(71;0.212)|all_epithelial(65;0.241)			Palifermin(DB00039)			1		527				0.18	15.356935	20.164445	9	41	CC		KEEP	---	---	---	---	capture	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Missense_Mutation	SNP	1777090	1777090	6104	4	C	T	T	26	26	FGFR3	T	2	2
LETM1	3954	broad.mit.edu	36	4	1786082	1786082	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1786082T>C	uc003gdv.1	-	c.2087A>G	c.(2086-2088)GAC>GGC	p.D696G		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	696	Mitochondrial matrix (Potential).|EF-hand.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1														0.3	53.827986	55.971661	18	42	TT		KEEP	---	---	---	---	capture	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		Missense_Mutation	SNP	1786082	1786082	9058	4	T	C	C	58	58	LETM1	C	4	4
ODZ3	55714	broad.mit.edu	36	4	183504805	183504805	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183504805T>G	uc003ivd.1	+	c.240T>G	c.(238-240)AAT>AAG	p.N80K	ODZ3_uc010irv.1_Missense_Mutation_p.N80K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	80	Cytoplasmic (Potential).|Teneurin N-terminal.				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)												0.183333	27.59286	33.2363	11	49	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	183504805	183504805	11241	4	T	G	G	52	52	ODZ3	G	4	4
ODZ3	55714	broad.mit.edu	36	4	183759161	183759161	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183759161C>T	uc003ivd.1	+	c.602C>T	c.(601-603)ACT>ATT	p.T201I		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	201	Cytoplasmic (Potential).|Teneurin N-terminal.				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)												0.462541	419.607933	419.984077	142	165	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	183759161	183759161	11241	4	C	T	T	20	20	ODZ3	T	2	2
ODZ3	55714	broad.mit.edu	36	4	183901372	183901372	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183901372C>T	uc003ivd.1	+	c.3435C>T	c.(3433-3435)GTC>GTT	p.V1145V	ODZ3_uc003ive.1_Silent_p.V551V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1145	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)												0.364706	80.831167	82.187397	31	54	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	183901372	183901372	11241	4	C	T	T	31	31	ODZ3	T	1	1
ODZ3	55714	broad.mit.edu	36	4	183901483	183901483	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183901483C>T	uc003ivd.1	+	c.3546C>T	c.(3544-3546)ATC>ATT	p.I1182I	ODZ3_uc003ive.1_Silent_p.I588I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1182	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)												0.449612	161.933937	162.218695	58	71	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	183901483	183901483	11241	4	C	T	T	31	31	ODZ3	T	1	1
ODZ3	55714	broad.mit.edu	36	4	183913240	183913240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183913240C>T	uc003ivd.1	+	c.4726C>T	c.(4726-4728)CGA>TGA	p.R1576*	ODZ3_uc003ive.1_Nonsense_Mutation_p.R989*	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1576	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)												0.32967	75.649879	77.974825	30	61	CC		KEEP	---	---	---	---	capture		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)	Nonsense_Mutation	SNP	183913240	183913240	11241	4	C	T	T	31	31	ODZ3	T	5	1
ODZ3	55714	broad.mit.edu	36	4	183950430	183950430	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183950430C>T	uc003ivd.1	+	c.5611C>T	c.(5611-5613)CTT>TTT	p.L1871F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1871	Extracellular (Potential).|YD 6.				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)												0.188811	53.732797	66.699229	27	116	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	183950430	183950430	11241	4	C	T	T	32	32	ODZ3	T	2	2
ODZ3	55714	broad.mit.edu	36	4	183951001	183951001	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183951001T>C	uc003ivd.1	+	c.6182T>C	c.(6181-6183)GTT>GCT	p.V2061A		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2061	YD 14.|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)												0.127273	24.784307	39.675145	14	96	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	183951001	183951001	11241	4	T	C	C	60	60	ODZ3	C	4	4
ODZ3	55714	broad.mit.edu	36	4	183951611	183951611	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183951611C>T	uc003ivd.1	+	c.6792C>T	c.(6790-6792)AAC>AAT	p.N2264N		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2264	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)												0.581395	150.758235	151.255185	50	36	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	183951611	183951611	11241	4	C	T	T	18	18	ODZ3	T	2	2
ODZ3	55714	broad.mit.edu	36	4	183958198	183958198	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183958198C>T	uc003ivd.1	+	c.7800C>T	c.(7798-7800)TTC>TTT	p.F2600F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2600	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)												0.352941	15.645258	15.969277	6	11	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	183958198	183958198	11241	4	C	T	T	31	31	ODZ3	T	1	1
DCTD	1635	broad.mit.edu	36	4	184049549	184049549	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:184049549C>A	uc003ivg.1	-	c.567G>T	c.(565-567)CAG>CAT	p.Q189H	DCTD_uc003ivf.1_Missense_Mutation_p.Q178H|DCTD_uc010irw.1_Missense_Mutation_p.Q119H|DCTD_uc003ivh.1_Missense_Mutation_p.Q119H	NM_001012732	NP_001912	P32321	DCTD_HUMAN	dCMP deaminase isoform a	178					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)												0.204947	131.284079	154.145623	58	225	CC		KEEP	---	---	---	---	capture		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Missense_Mutation	SNP	184049549	184049549	4476	4	C	A	A	20	20	DCTD	A	3	3
WWC2	80014	broad.mit.edu	36	4	184366230	184366230	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:184366230G>T	uc010irx.1	+	c.372G>T	c.(370-372)AGG>AGT	p.R124S	WWC2_uc003ivk.2_5'UTR|WWC2_uc003ivl.2_Non-coding_Transcript|WWC2_uc010iry.1_5'Flank	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	124	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)												0.175	23.795126	31.774617	14	66	GG		KEEP	---	---	---	---	capture		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	Missense_Mutation	SNP	184366230	184366230	17986	4	G	T	T	42	42	WWC2	T	3	3
WWC2	80014	broad.mit.edu	36	4	184406864	184406864	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:184406864C>A	uc010irx.1	+	c.736C>A	c.(736-738)CTT>ATT	p.L246I	WWC2_uc003ivk.2_Missense_Mutation_p.L41I|WWC2_uc003ivl.2_Non-coding_Transcript|WWC2_uc010iry.1_Intron	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	246	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)												0.193548	10.929319	13.649421	6	25	CC		KEEP	---	---	---	---	capture		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	Missense_Mutation	SNP	184406864	184406864	17986	4	C	A	A	32	32	WWC2	A	3	3
WWC2	80014	broad.mit.edu	36	4	184412134	184412134	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:184412134C>T	uc010irx.1	+	c.1184C>T	c.(1183-1185)GCT>GTT	p.A395V	WWC2_uc003ivk.2_Missense_Mutation_p.A190V|WWC2_uc003ivl.2_Non-coding_Transcript|WWC2_uc010iry.1_Missense_Mutation_p.A77V	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	395	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)												0.181818	15.175104	19.360046	8	36	CC		KEEP	---	---	---	---	capture		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	Missense_Mutation	SNP	184412134	184412134	17986	4	C	T	T	28	28	WWC2	T	2	2
CDKN2AIP	55602	broad.mit.edu	36	4	184605480	184605480	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:184605480G>T	uc003ivp.1	+	c.1649G>T	c.(1648-1650)AGA>ATA	p.R550I	CDKN2AIP_uc003ivq.1_Missense_Mutation_p.R295I	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	550					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)												0.479853	357.579181	357.6768	131	142	GG		KEEP	---	---	---	---	capture		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Missense_Mutation	SNP	184605480	184605480	3291	4	G	T	T	33	33	CDKN2AIP	T	3	3
ING2	3622	broad.mit.edu	36	4	184668748	184668748	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:184668748T>G	uc003ivs.1	+	c.492T>G	c.(490-492)TGT>TGG	p.C164W		NM_001564	NP_001555	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	164					chromatin modification|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|transcription activator activity|zinc ion binding			ovary(1)	1		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)												0.223529	50.185445	56.154458	19	66	TT		KEEP	---	---	---	---	capture		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Missense_Mutation	SNP	184668748	184668748	8037	4	T	G	G	58	58	ING2	G	4	4
ENPP6	133121	broad.mit.edu	36	4	185311852	185311852	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:185311852G>A	uc003iwc.1	-	c.270C>T	c.(268-270)ATC>ATT	p.I90I		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	90	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)												0.416	143.971636	144.742886	52	73	GG		KEEP	---	---	---	---	capture		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	Silent	SNP	185311852	185311852	5327	4	G	A	A	37	37	ENPP6	A	1	1
CCDC111	201973	broad.mit.edu	36	4	185849824	185849824	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:185849824A>G	uc003iwk.2	+	c.1389A>G	c.(1387-1389)TTA>TTG	p.L463L	CCDC111_uc003iwj.2_Silent_p.L462L|CCDC111_uc003iwl.2_Silent_p.L463L|CCDC111_uc003iwm.2_Silent_p.L334L|CCDC111_uc003iwn.2_Silent_p.L203L	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	463					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)												0.35814	256.439164	260.239384	77	138	AA		KEEP	---	---	---	---	capture		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	Silent	SNP	185849824	185849824	2868	4	A	G	G	14	14	CCDC111	G	4	4
MLF1IP	79682	broad.mit.edu	36	4	185860273	185860273	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:185860273G>A	uc003iwq.1	-	c.888C>T	c.(886-888)AGC>AGT	p.S296S	MLF1IP_uc003iwp.1_Non-coding_Transcript|MLF1IP_uc003iwr.1_Silent_p.S296S	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	296					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)												0.176471	22.356611	29.066935	12	56	GG		KEEP	---	---	---	---	capture		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	Silent	SNP	185860273	185860273	10005	4	G	A	A	42	42	MLF1IP	A	2	2
HELT	391723	broad.mit.edu	36	4	186177858	186177858	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186177858G>A	uc003ixb.1	+	c.351G>A	c.(349-351)GCG>GCA	p.A117A	HELT_uc003ixa.2_Intron	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	117	Helix-loop-helix motif.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)												0.452381	49.615552	49.698758	19	23	GG		KEEP	---	---	---	---	capture		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Silent	SNP	186177858	186177858	7331	4	G	A	A	38	38	HELT	A	1	1
SNX25	83891	broad.mit.edu	36	4	186425127	186425127	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186425127G>A	uc003ixh.1	+	c.423G>A	c.(421-423)CCG>CCA	p.P141P		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	141	PXA.				cell communication|protein transport		phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)												0.20339	73.993242	88.471119	36	141	GG		KEEP	---	---	---	---	capture		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	Silent	SNP	186425127	186425127	15396	4	G	A	A	39	39	SNX25	A	1	1
SNX25	83891	broad.mit.edu	36	4	186504687	186504687	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186504687C>T	uc003ixh.1	+	c.1698C>T	c.(1696-1698)TGC>TGT	p.C566C	SNX25_uc010ish.1_Silent_p.C337C|SNX25_uc003ixi.2_Silent_p.C70C	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	566	PX.				cell communication|protein transport		phosphatidylinositol binding|signal transducer activity	p.C566C(1)		ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)												0.4	126.268691	127.319723	48	72	CC		KEEP	---	---	---	---	capture		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	Silent	SNP	186504687	186504687	15396	4	C	T	T	27	27	SNX25	T	1	1
LRP2BP	55805	broad.mit.edu	36	4	186531126	186531126	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186531126C>A	uc003ixj.1	-	c.681G>T	c.(679-681)ACG>ACT	p.T227T	LRP2BP_uc003ixk.1_Silent_p.T201T	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	227	Sel1-like 4.					cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)												0.465116	242.076704	242.259277	80	92	CC		KEEP	---	---	---	---	capture		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	Silent	SNP	186531126	186531126	9330	4	C	A	A	23	23	LRP2BP	A	3	3
UFSP2	55325	broad.mit.edu	36	4	186558600	186558600	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186558600A>G	uc003ixo.1	-	c.1350T>C	c.(1348-1350)GAT>GAC	p.D450D	UFSP2_uc003ixn.1_Silent_p.D325D|UFSP2_uc003ixp.1_Non-coding_Transcript|UFSP2_uc003ixq.1_Silent_p.D340D	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	450						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)												0.527473	154.98199	155.04138	48	43	AA		KEEP	---	---	---	---	capture		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	Silent	SNP	186558600	186558600	17496	4	A	G	G	4	4	UFSP2	G	4	4
UFSP2	55325	broad.mit.edu	36	4	186573926	186573926	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186573926G>A	uc003ixo.1	-	c.423C>T	c.(421-423)CAC>CAT	p.H141H	UFSP2_uc003ixn.1_Silent_p.H31H|UFSP2_uc003ixp.1_Non-coding_Transcript|UFSP2_uc003ixq.1_Silent_p.H31H	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	141						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)												0.115942	13.501358	33.54711	16	122	GG		KEEP	---	---	---	---	capture		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	Silent	SNP	186573926	186573926	17496	4	G	A	A	44	44	UFSP2	A	2	2
CCDC110	256309	broad.mit.edu	36	4	186617185	186617185	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186617185A>G	uc003ixu.2	-	c.1550T>C	c.(1549-1551)GTT>GCT	p.V517A	CCDC110_uc003ixv.2_Missense_Mutation_p.V480A	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	517	Potential.					nucleus					0		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)												0.142857	26.491457	38.529271	14	84	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	186617185	186617185	2867	4	A	G	G	2	2	CCDC110	G	4	4
CCDC110	256309	broad.mit.edu	36	4	186618131	186618131	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186618131G>A	uc003ixu.2	-	c.604C>T	c.(604-606)CGT>TGT	p.R202C	CCDC110_uc003ixv.2_Missense_Mutation_p.R165C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	202						nucleus					0		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)												0.42735	139.426561	139.965807	50	67	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	186618131	186618131	2867	4	G	A	A	37	37	CCDC110	A	1	1
SORBS2	8470	broad.mit.edu	36	4	186781716	186781716	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186781716A>G	uc003iyg.1	-	c.2191T>C	c.(2191-2193)TCC>CCC	p.S731P	SORBS2_uc003iya.1_Intron|SORBS2_uc003iyb.1_Intron|SORBS2_uc003iyc.1_Intron|SORBS2_uc003iyd.1_Intron|SORBS2_uc003iye.1_Intron|SORBS2_uc003iyf.1_Intron|SORBS2_uc003iyh.1_Intron|SORBS2_uc003iyi.1_Intron|SORBS2_uc003iyj.1_Intron|SORBS2_uc003iyk.1_Intron|SORBS2_uc003iyl.1_Missense_Mutation_p.S617P|SORBS2_uc003iym.1_Missense_Mutation_p.S717P|SORBS2_uc003iyn.1_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	617						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)				Esophageal Squamous(153;41 2433 9491 36028)								0.222222	68.7663	77.800837	28	98	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	Missense_Mutation	SNP	186781716	186781716	15428	4	A	G	G	12	12	SORBS2	G	4	4
TLR3	7098	broad.mit.edu	36	4	187237125	187237125	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:187237125C>A	uc003iyq.1	+	c.579C>A	c.(577-579)ATC>ATA	p.I193I		NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3	193	Lumenal (Potential).|LRR 6.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)	2		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)								155				0.409091	95.173781	95.811539	36	52	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	Silent	SNP	187237125	187237125	16482	4	C	A	A	32	32	TLR3	A	3	3
FAM149A	25854	broad.mit.edu	36	4	187325177	187325177	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:187325177C>T	uc003iyt.2	+	c.1226C>T	c.(1225-1227)TCG>TTG	p.S409L	FAM149A_uc003iyu.2_Missense_Mutation_p.S409L|FAM149A_uc010isl.1_Missense_Mutation_p.S409L|FAM149A_uc003iyv.2_Missense_Mutation_p.S236L	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	700										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)												0.451923	129.407519	129.617188	47	57	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	Missense_Mutation	SNP	187325177	187325177	5652	4	C	T	T	31	31	FAM149A	T	1	1
KLKB1	3818	broad.mit.edu	36	4	187409795	187409795	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:187409795G>A	uc003iyy.1	+	c.1029G>A	c.(1027-1029)GAG>GAA	p.E343E		NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	343	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)												0.445714	226.419083	226.869563	78	97	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	Silent	SNP	187409795	187409795	8726	4	G	A	A	33	33	KLKB1	A	2	2
MTNR1A	4543	broad.mit.edu	36	4	187691915	187691915	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:187691915G>A	uc003izd.1	-	c.975C>T	c.(973-975)AAC>AAT	p.N325N		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	325	Cytoplasmic (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)	1		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)			Melatonin(DB01065)|Ramelteon(DB00980)									0.245902	128.069299	142.430492	60	184	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Silent	SNP	187691915	187691915	10344	4	G	A	A	40	40	MTNR1A	A	1	1
MTNR1A	4543	broad.mit.edu	36	4	187692560	187692560	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:187692560G>A	uc003izd.1	-	c.330C>T	c.(328-330)AGC>AGT	p.S110S		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	110	Helical; Name=3; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)	1		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)			Melatonin(DB01065)|Ramelteon(DB00980)									0.4	109.085408	109.984919	42	63	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Silent	SNP	187692560	187692560	10344	4	G	A	A	38	38	MTNR1A	A	1	1
FAT1	2195	broad.mit.edu	36	4	187754941	187754941	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:187754941C>T	uc003izf.1	-	c.12747G>A	c.(12745-12747)GTG>GTA	p.V4249V	FAT1_uc010isn.1_5'Flank|FAT1_uc003ize.1_Silent_p.V140V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4249	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						Colon(197;1040 2055 4143 4984 49344)								0.391753	96.122894	97.119252	38	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	187754941	187754941	5925	4	C	T	T	25	25	FAT1	T	2	2
FAT1	2195	broad.mit.edu	36	4	187761433	187761433	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:187761433G>T	uc003izf.1	-	c.11241C>A	c.(11239-11241)TTC>TTA	p.F3747L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3747	Extracellular (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						Colon(197;1040 2055 4143 4984 49344)								0.140845	10.796764	19.647317	10	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	187761433	187761433	5925	4	G	T	T	33	33	FAT1	T	3	3
ZFP42	132625	broad.mit.edu	36	4	189160997	189160997	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189160997G>A	uc003izg.1	+	c.42G>A	c.(40-42)CAG>CAA	p.Q14Q	ZFP42_uc003izh.1_Silent_p.Q14Q|ZFP42_uc003izi.1_Silent_p.Q14Q|ZFP42_uc010isp.1_Silent_p.Q14Q	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	14					female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)												0.469388	206.659895	206.779992	69	78	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	Silent	SNP	189160997	189160997	18238	4	G	A	A	33	33	ZFP42	A	2	2
ZFP42	132625	broad.mit.edu	36	4	189161588	189161588	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189161588T>G	uc003izg.1	+	c.633T>G	c.(631-633)ATT>ATG	p.I211M	ZFP42_uc003izh.1_Missense_Mutation_p.I211M|ZFP42_uc003izi.1_Missense_Mutation_p.I211M|ZFP42_uc010isp.1_Missense_Mutation_p.I211M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	211	C2H2-type 1.				female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)												0.132701	47.961512	75.594035	28	183	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	Missense_Mutation	SNP	189161588	189161588	18238	4	T	G	G	62	62	ZFP42	G	4	4
ZFP42	132625	broad.mit.edu	36	4	189161846	189161846	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189161846A>G	uc003izg.1	+	c.891A>G	c.(889-891)CTA>CTG	p.L297L	ZFP42_uc003izh.1_Silent_p.L297L|ZFP42_uc003izi.1_Silent_p.L297L|ZFP42_uc010isp.1_Silent_p.L297L	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	297	C2H2-type 4.				female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)												0.208333	27.127686	30.90544	10	38	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	Silent	SNP	189161846	189161846	18238	4	A	G	G	13	13	ZFP42	G	4	4
TRIML1	339976	broad.mit.edu	36	4	189297937	189297937	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189297937C>T	uc003izm.1	+	c.231C>T	c.(229-231)ATC>ATT	p.I77I		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	77					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)				Melanoma(31;213 1036 16579 23968 32372)								0.245509	90.500169	100.347845	41	126	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	Silent	SNP	189297937	189297937	17100	4	C	T	T	31	31	TRIML1	T	1	1
TRIML1	339976	broad.mit.edu	36	4	189300608	189300608	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189300608G>T	uc003izm.1	+	c.713G>T	c.(712-714)AGC>ATC	p.S238I	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	238					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)				Melanoma(31;213 1036 16579 23968 32372)								0.236559	50.199105	56.10233	22	71	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	Missense_Mutation	SNP	189300608	189300608	17100	4	G	T	T	34	34	TRIML1	T	3	3
TRIML1	339976	broad.mit.edu	36	4	189305262	189305262	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189305262C>T	uc003izm.1	+	c.1149C>T	c.(1147-1149)ATC>ATT	p.I383I	TRIML1_uc003izn.1_Silent_p.I107I	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	383	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)				Melanoma(31;213 1036 16579 23968 32372)								0.218905	92.413578	107.035064	44	157	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	Silent	SNP	189305262	189305262	17100	4	C	T	T	31	31	TRIML1	T	1	1
WHSC1	7468	broad.mit.edu	36	4	1906756	1906756	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1906756G>T	uc003gdz.2	+	c.1643G>T	c.(1642-1644)AGA>ATA	p.R548I	WHSC1_uc003gdy.1_Missense_Mutation_p.R548I|WHSC1_uc010icd.1_Missense_Mutation_p.R548I|WHSC1_uc003gea.1_Missense_Mutation_p.R548I|WHSC1_uc003geb.2_Missense_Mutation_p.R548I|WHSC1_uc003gec.2_Missense_Mutation_p.R548I|WHSC1_uc003ged.2_Missense_Mutation_p.R548I|WHSC1_uc003gee.2_Non-coding_Transcript|WHSC1_uc003gef.2_Non-coding_Transcript|WHSC1_uc010ice.1_Missense_Mutation_p.R548I|WHSC1_uc003geh.1_Missense_Mutation_p.R548I	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	548					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		all_epithelial(65;1.34e-05)								355				0.215686	84.660235	99.912802	44	160	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	Missense_Mutation	SNP	1906756	1906756	17936	4	G	T	T	33	33	WHSC1	T	3	3
WHSC1	7468	broad.mit.edu	36	4	1911305	1911305	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1911305T>C	uc003gdz.2	+	c.1881_splice	c.e9+2	p.E627_splice	WHSC1_uc003gdy.1_Missense_Mutation_p.V628A|WHSC1_uc010icd.1_Splice_Site_SNP_p.E627_splice|WHSC1_uc003gea.1_Missense_Mutation_p.V628A|WHSC1_uc003geb.2_Splice_Site_SNP_p.E627_splice|WHSC1_uc003gec.2_Splice_Site_SNP_p.E627_splice|WHSC1_uc003ged.2_Splice_Site_SNP_p.E627_splice|WHSC1_uc003gee.2_Splice_Site_SNP|WHSC1_uc003gef.2_Splice_Site_SNP|WHSC1_uc010ice.1_Splice_Site_SNP_p.E627_splice|WHSC1_uc003geh.1_Splice_Site_SNP_p.E627_splice|WHSC1_uc003gei.2_Splice_Site_SNP	NM_001042424	NP_579890			Wolf-Hirschhorn syndrome candidate 1 protein						anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		all_epithelial(65;1.34e-05)								355				0.266667	115.949463	123.314806	40	110	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	Splice_Site_SNP	SNP	1911305	1911305	17936	4	T	C	C	57	57	WHSC1	C	5	4
TUBB4Q	56604	broad.mit.edu	36	4	191140967	191140967	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:191140967T>C	uc003izt.1	-	c.1007A>G	c.(1006-1008)AAC>AGC	p.N336S		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	337					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)												0.501961	434.445083	434.445757	128	127	TT		KEEP	---	---	---	---	capture		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	Missense_Mutation	SNP	191140967	191140967	17314	4	T	C	C	60	60	TUBB4Q	C	4	4
TUBB4Q	56604	broad.mit.edu	36	4	191141270	191141270	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:191141270A>G	uc003izt.1	-	c.704T>C	c.(703-705)GTC>GCC	p.V235A		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	236					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)												0.485981	171.72006	171.736995	52	55	AA		KEEP	---	---	---	---	capture		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	Missense_Mutation	SNP	191141270	191141270	17314	4	A	G	G	10	10	TUBB4Q	G	4	4
FRG2	448831	broad.mit.edu	36	4	191184033	191184033	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:191184033G>A	uc003izv.1	-	c.514C>T	c.(514-516)CGA>TGA	p.R172*		NM_001005217	NP_001005217	Q64ET8	FRG2_HUMAN	FSHD region gene 2	172						nucleus				ovary(1)	1		all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513)												0.502451	594.318198	594.32089	205	203	GG		KEEP	---	---	---	---	capture		all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155)	Nonsense_Mutation	SNP	191184033	191184033	6295	4	G	A	A	37	37	FRG2	A	5	1
WHSC1	7468	broad.mit.edu	36	4	1932641	1932641	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1932641G>A	uc003gdz.2	+	c.3337G>A	c.(3337-3339)GAC>AAC	p.D1113N	WHSC1_uc003geb.2_Missense_Mutation_p.D1113N|WHSC1_uc003gec.2_Missense_Mutation_p.D1113N|WHSC1_uc003ged.2_Missense_Mutation_p.D1113N|WHSC1_uc003gee.2_Non-coding_Transcript|WHSC1_uc003gef.2_Non-coding_Transcript|WHSC1_uc003gei.2_Missense_Mutation_p.D332N|WHSC1_uc010icf.1_Missense_Mutation_p.D461N	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1113	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		all_epithelial(65;1.34e-05)								355				0.3	132.174197	138.611602	54	126	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	Missense_Mutation	SNP	1932641	1932641	17936	4	G	A	A	37	37	WHSC1	A	1	1
SLIT2	9353	broad.mit.edu	36	4	20142723	20142723	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:20142723A>T	uc003gpr.1	+	c.1632A>T	c.(1630-1632)GAA>GAT	p.E544D	SLIT2_uc003gps.1_Missense_Mutation_p.E536D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2	544	LRR 12.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.211765	38.705614	45.233756	18	67	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20142723	20142723	15238	4	A	T	T	4	4	SLIT2	T	4	4
SLIT2	9353	broad.mit.edu	36	4	20229653	20229653	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:20229653G>A	uc003gpr.1	+	c.4513G>A	c.(4513-4515)GAA>AAA	p.E1505K	SLIT2_uc003gps.1_Missense_Mutation_p.E1497K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2	1505	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.294118	60.339086	63.565704	25	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20229653	20229653	15238	4	G	A	A	37	37	SLIT2	A	1	1
KCNIP4	80333	broad.mit.edu	36	4	20360425	20360425	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:20360425G>A	uc010iem.1	-	c.387C>T	c.(385-387)TTC>TTT	p.F129F	KCNIP4_uc003gqg.1_Silent_p.F67F|KCNIP4_uc003gqh.1_Silent_p.F104F|KCNIP4_uc003gqi.1_Silent_p.F67F|KCNIP4_uc010ien.1_Silent_p.F95F|PACRGL_uc003gpu.1_Intron|PACRGL_uc003gpx.2_Intron|PACRGL_uc003gpw.1_Intron|PACRGL_uc003gqb.1_Intron|KCNIP4_uc010iel.1_Silent_p.F92F|KCNIP4_uc003gqd.2_Silent_p.F92F|KCNIP4_uc003gqe.1_Silent_p.F112F|KCNIP4_uc003gqf.1_Silent_p.F108F	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 1	129	EF-hand 2.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)												0.287879	46.493609	49.159614	19	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	20360425	20360425	8347	4	G	A	A	45	45	KCNIP4	A	2	2
POLN	353497	broad.mit.edu	36	4	2179599	2179599	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2179599G>A	uc003ger.1	-	c.627C>T	c.(625-627)AGC>AGT	p.S209S	POLN_uc010ich.1_5'UTR	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	209					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4														0.284848	114.094947	120.932213	47	118	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		Silent	SNP	2179599	2179599	12635	4	G	A	A	42	42	POLN	A	2	2
GPR125	166647	broad.mit.edu	36	4	21998815	21998815	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:21998815C>T	uc003gqm.1	-	c.3577G>A	c.(3577-3579)GAT>AAT	p.D1193N	GPR125_uc010ieo.1_Missense_Mutation_p.D1049N|GPR125_uc003gql.1_Missense_Mutation_p.D320N	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1193	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity				0		Breast(46;0.198)												0.265625	161.880445	174.592164	68	188	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21998815	21998815	6913	4	C	T	T	31	31	GPR125	T	1	1
GPR125	166647	broad.mit.edu	36	4	21999231	21999231	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:21999231C>A	uc003gqm.1	-	c.3161G>T	c.(3160-3162)AGA>ATA	p.R1054I	GPR125_uc010ieo.1_Missense_Mutation_p.R910I|GPR125_uc003gql.1_Missense_Mutation_p.R181I	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1054	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity				0		Breast(46;0.198)												0.238532	54.086001	60.90112	26	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21999231	21999231	6913	4	C	A	A	32	32	GPR125	A	3	3
GPR125	166647	broad.mit.edu	36	4	21999848	21999848	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:21999848G>A	uc003gqm.1	-	c.2684C>T	c.(2683-2685)GCG>GTG	p.A895V	GPR125_uc010ieo.1_Missense_Mutation_p.A751V|GPR125_uc003gql.1_Missense_Mutation_p.A22V	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	895	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity				0		Breast(46;0.198)												0.301927	343.874457	360.248182	141	326	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21999848	21999848	6913	4	G	A	A	38	38	GPR125	A	1	1
HAUS3	79441	broad.mit.edu	36	4	2212410	2212410	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2212410T>C	uc003ges.1	-	c.62A>G	c.(61-63)AAT>AGT	p.N21S	HAUS3_uc003get.1_Missense_Mutation_p.N21S	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	hypothetical protein LOC79441	21					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle				large_intestine(2)|breast(2)	4														0.227074	144.193325	159.839139	52	177	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2212410	2212410	7249	4	T	C	C	52	52	HAUS3	C	4	4
ZFYVE28	57732	broad.mit.edu	36	4	2276864	2276864	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2276864G>T	uc003gex.1	-	c.1001C>A	c.(1000-1002)TCC>TAC	p.S334Y	ZFYVE28_uc003gew.1_Missense_Mutation_p.S220Y	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	334					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(1)	1														0.114583	7.755606	21.818508	11	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2276864	2276864	18260	4	G	T	T	41	41	ZFYVE28	T	3	3
ZFYVE28	57732	broad.mit.edu	36	4	2291774	2291774	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2291774C>A	uc003gex.1	-	c.724G>T	c.(724-726)GGA>TGA	p.G242*	ZFYVE28_uc003gew.1_Nonsense_Mutation_p.G128*	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	242					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(1)	1														0.307692	101.364125	105.216952	36	81	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	2291774	2291774	18260	4	C	A	A	23	23	ZFYVE28	A	5	3
PPARGC1A	10891	broad.mit.edu	36	4	23423480	23423480	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:23423480C>A	uc003gqs.1	-	c.2007G>T	c.(2005-2007)AGG>AGT	p.R669S	PPARGC1A_uc003gqt.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	669					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription mediator activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)	6		Breast(46;0.0503)				Esophageal Squamous(29;694 744 13796 34866 44181)				410				0.288462	145.708976	154.060148	60	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23423480	23423480	12730	4	C	A	A	26	26	PPARGC1A	A	3	3
PPARGC1A	10891	broad.mit.edu	36	4	23424555	23424555	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:23424555G>T	uc003gqs.1	-	c.1649C>A	c.(1648-1650)TCT>TAT	p.S550Y	PPARGC1A_uc003gqt.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	550					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription mediator activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)	6		Breast(46;0.0503)				Esophageal Squamous(29;694 744 13796 34866 44181)				410				0.259887	103.454695	112.706432	46	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23424555	23424555	12730	4	G	T	T	33	33	PPARGC1A	T	3	3
LGI2	55203	broad.mit.edu	36	4	24628755	24628755	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:24628755C>A	uc003grf.1	-	c.609G>T	c.(607-609)AAG>AAT	p.K203N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	203	LRRCT.					extracellular region					0		Breast(46;0.173)												0.521851	566.858211	567.015847	203	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24628755	24628755	9078	4	C	A	A	32	32	LGI2	A	3	3
SEPSECS	51091	broad.mit.edu	36	4	24766838	24766838	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:24766838G>A	uc003gri.1	-	c.463C>T	c.(463-465)CGA>TGA	p.R155*	SEPSECS_uc003grg.1_Nonsense_Mutation_p.R96*|SEPSECS_uc003grh.1_Nonsense_Mutation_p.R77*	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	156					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)									0.295652	164.399422	172.998206	68	162	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	24766838	24766838	14544	4	G	A	A	40	40	SEPSECS	A	5	1
PI4K2B	55300	broad.mit.edu	36	4	24869776	24869776	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:24869776T>G	uc003grk.1	+	c.776T>G	c.(775-777)TTT>TGT	p.F259C		NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	259	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)								119				0.211009	63.532038	71.901519	23	86	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24869776	24869776	12296	4	T	G	G	64	64	PI4K2B	G	4	4
ZCCHC4	29063	broad.mit.edu	36	4	24944631	24944631	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:24944631G>A	uc003grl.2	+	c.609G>A	c.(607-609)TTG>TTA	p.L203L	ZCCHC4_uc003grm.1_Non-coding_Transcript|ZCCHC4_uc003grn.2_5'UTR	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	203							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)												0.196721	22.36092	27.593221	12	49	GG		KEEP	---	---	---	---	capture			Silent	SNP	24944631	24944631	18178	4	G	A	A	46	46	ZCCHC4	A	2	2
SLC34A2	10568	broad.mit.edu	36	4	25276901	25276901	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:25276901T>C	uc003grr.1	+	c.433T>C	c.(433-435)TTG>CTG	p.L145L	SLC34A2_uc003grs.1_Silent_p.L144L|SLC34A2_uc010iev.1_Silent_p.L144L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	145	Helical; Name=M2; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(1)|kidney(1)	2		Breast(46;0.0503)												0.343137	222.509026	226.933505	70	134	TT		KEEP	---	---	---	---	capture			Silent	SNP	25276901	25276901	15065	4	T	C	C	60	60	SLC34A2	C	4	4
SEL1L3	23231	broad.mit.edu	36	4	25445992	25445992	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:25445992C>T	uc003gru.2	-	c.785G>A	c.(784-786)GGC>GAC	p.G262D		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	hypothetical protein LOC23231	262						integral to membrane	binding				0														0.5625	346.735569	347.436274	117	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25445992	25445992	14498	4	C	T	T	26	26	SEL1L3	T	2	2
RBPJ	3516	broad.mit.edu	36	4	26016906	26016906	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:26016906G>A	uc003grx.1	+	c.110G>A	c.(109-111)CGA>CAA	p.R37Q	RBPJ_uc003gry.1_Missense_Mutation_p.R22Q|RBPJ_uc003grz.1_Missense_Mutation_p.R37Q|RBPJ_uc003gsa.1_Missense_Mutation_p.R23Q|RBPJ_uc003gsb.1_Missense_Mutation_p.R24Q|RBPJ_uc003gsc.1_Missense_Mutation_p.R23Q	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	37					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		Breast(46;0.0503)								165				0.271523	99.506884	106.616233	41	110	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26016906	26016906	13630	4	G	A	A	37	37	RBPJ	A	1	1
CCKAR	886	broad.mit.edu	36	4	26092612	26092612	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:26092612G>A	uc003gse.1	-	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	345	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			pancreas(1)	1		Breast(46;0.0503)			Ceruletide(DB00403)									0.29878	105.68341	111.638061	49	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26092612	26092612	3005	4	G	A	A	38	38	CCKAR	A	1	1
CCKAR	886	broad.mit.edu	36	4	26092679	26092679	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:26092679G>T	uc003gse.1	-	c.966C>A	c.(964-966)TTC>TTA	p.F322L		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	322	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			pancreas(1)	1		Breast(46;0.0503)			Ceruletide(DB00403)									0.536232	307.900543	308.134086	111	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26092679	26092679	3005	4	G	T	T	33	33	CCKAR	T	3	3
TBC1D19	55296	broad.mit.edu	36	4	26299098	26299098	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:26299098T>C	uc003gsf.2	+	c.925T>C	c.(925-927)TAT>CAT	p.Y309H	TBC1D19_uc010iew.1_Missense_Mutation_p.Y309H	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	309	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)												0.269565	95.894112	101.390623	31	84	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26299098	26299098	16129	4	T	C	C	61	61	TBC1D19	C	4	4
FAM193A	8603	broad.mit.edu	36	4	2634475	2634475	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2634475G>A	uc010icl.1	+	c.985G>A	c.(985-987)GAA>AAA	p.E329K	FAM193A_uc010ick.1_Missense_Mutation_p.E329K|FAM193A_uc003gfd.1_Missense_Mutation_p.E329K|FAM193A_uc010icm.1_Non-coding_Transcript|FAM193A_uc003gfe.1_Missense_Mutation_p.E183K	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	329										ovary(3)	3														0.568	212.532048	213.034843	71	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2634475	2634475	5735	4	G	A	A	37	37	FAM193A	A	1	1
FAM193A	8603	broad.mit.edu	36	4	2662341	2662341	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2662341G>T	uc010icl.1	+	c.1776G>T	c.(1774-1776)AAG>AAT	p.K592N	FAM193A_uc003gfd.1_Missense_Mutation_p.K592N|FAM193A_uc010icm.1_Non-coding_Transcript|FAM193A_uc003gfe.1_Missense_Mutation_p.K446N	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	592										ovary(3)	3														0.209459	57.632233	69.21156	31	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2662341	2662341	5735	4	G	T	T	33	33	FAM193A	T	3	3
FAM193A	8603	broad.mit.edu	36	4	2662412	2662412	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2662412C>T	uc010icl.1	+	c.1847C>T	c.(1846-1848)ACG>ATG	p.T616M	FAM193A_uc003gfd.1_Missense_Mutation_p.T616M|FAM193A_uc010icm.1_Non-coding_Transcript|FAM193A_uc003gfe.1_Missense_Mutation_p.T470M	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	616										ovary(3)	3														0.275229	69.301444	74.262453	30	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2662412	2662412	5735	4	C	T	T	19	19	FAM193A	T	1	1
FAM193A	8603	broad.mit.edu	36	4	2668031	2668031	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2668031G>A	uc010icl.1	+	c.2547G>A	c.(2545-2547)GAG>GAA	p.E849E	FAM193A_uc003gfd.1_Silent_p.E849E|FAM193A_uc010icm.1_Non-coding_Transcript|FAM193A_uc003gfe.1_Silent_p.E703E	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	849										ovary(3)	3														0.198413	58.914242	69.573987	25	101	GG		KEEP	---	---	---	---	capture			Silent	SNP	2668031	2668031	5735	4	G	A	A	35	35	FAM193A	A	2	2
SH3BP2	6452	broad.mit.edu	36	4	2794461	2794461	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2794461G>A	uc003gfj.2	+	c.309G>A	c.(307-309)TGG>TGA	p.W103*	SH3BP2_uc010icn.1_Nonsense_Mutation_p.W46*|SH3BP2_uc003gfi.2_Nonsense_Mutation_p.W46*|SH3BP2_uc003gfk.2_Nonsense_Mutation_p.W46*|SH3BP2_uc003gfl.2_5'UTR	NM_003023	NP_003014	P78314	3BP2_HUMAN	SH3-domain binding protein 2	46	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1														0.4	43.701146	44.047632	16	24	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	Nonsense_Mutation	SNP	2794461	2794461	14736	4	G	A	A	42	42	SH3BP2	A	5	2
SH3BP2	6452	broad.mit.edu	36	4	2798789	2798789	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2798789G>A	uc003gfj.2	+	c.634G>A	c.(634-636)GCA>ACA	p.A212T	SH3BP2_uc003gfi.2_Missense_Mutation_p.A155T|SH3BP2_uc003gfk.2_Missense_Mutation_p.A155T|SH3BP2_uc003gfl.2_Missense_Mutation_p.A88T|SH3BP2_uc003gfm.2_Missense_Mutation_p.A130T	NM_003023	NP_003014	P78314	3BP2_HUMAN	SH3-domain binding protein 2	155					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1														0.265152	78.969553	85.548223	35	97	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	Missense_Mutation	SNP	2798789	2798789	14736	4	G	A	A	38	38	SH3BP2	A	1	1
GRK4	2868	broad.mit.edu	36	4	3009975	3009975	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3009975G>A	uc003ggn.1	+	c.1620G>A	c.(1618-1620)AAG>AAA	p.K540K	GRK4_uc003ggo.1_Intron|GRK4_uc003ggp.1_Silent_p.K508K|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	540						cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1										1452				0.327189	192.566144	198.305982	71	146	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Silent	SNP	3009975	3009975	7070	4	G	A	A	33	33	GRK4	A	2	2
PCDH7	5099	broad.mit.edu	36	4	30332424	30332424	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:30332424G>A	uc010iez.1	+	c.282G>A	c.(280-282)GAG>GAA	p.E94E	PCDH7_uc003gsj.1_Silent_p.E94E|PCDH7_uc003gsk.1_Silent_p.E94E	NM_032457	NP_115833	O60245	PCDH7_HUMAN	protocadherin 7 isoform c precursor	94	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4														0.293103	40.740571	42.971157	17	41	GG		KEEP	---	---	---	---	capture			Silent	SNP	30332424	30332424	11936	4	G	A	A	33	33	PCDH7	A	2	2
HTT	3064	broad.mit.edu	36	4	3087654	3087654	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3087654C>A	uc010icr.1	+	c.940C>A	c.(940-942)CTT>ATT	p.L314I		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	312					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			ovary(1)|lung(1)	2		all_epithelial(65;0.18)												0.198251	125.894974	154.988186	68	275	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	Missense_Mutation	SNP	3087654	3087654	7757	4	C	A	A	32	32	HTT	A	3	3
HTT	3064	broad.mit.edu	36	4	3143887	3143887	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3143887C>T	uc010icr.1	+	c.3913C>T	c.(3913-3915)CGA>TGA	p.R1305*		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1303					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			ovary(1)|lung(1)	2		all_epithelial(65;0.18)												0.272727	167.658346	179.442015	69	184	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	Nonsense_Mutation	SNP	3143887	3143887	7757	4	C	T	T	31	31	HTT	T	5	1
HTT	3064	broad.mit.edu	36	4	3178422	3178422	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3178422C>T	uc010icr.1	+	c.5995C>T	c.(5995-5997)CTG>TTG	p.L1999L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1997					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			ovary(1)|lung(1)	2		all_epithelial(65;0.18)												0.208696	54.934988	63.972316	24	91	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	Silent	SNP	3178422	3178422	7757	4	C	T	T	32	32	HTT	T	2	2
HTT	3064	broad.mit.edu	36	4	3207687	3207687	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3207687C>A	uc010icr.1	+	c.8805C>A	c.(8803-8805)GTC>GTA	p.V2935V		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2933					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			ovary(1)|lung(1)	2		all_epithelial(65;0.18)												0.231884	63.715376	72.816322	32	106	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	Silent	SNP	3207687	3207687	7757	4	C	A	A	29	29	HTT	A	3	3
RGS12	6002	broad.mit.edu	36	4	3401982	3401982	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3401982C>T	uc003ggw.1	+	c.3616C>T	c.(3616-3618)CGT>TGT	p.R1206C	RGS12_uc003ggz.1_Missense_Mutation_p.R558C|RGS12_uc003gha.1_Missense_Mutation_p.R548C|RGS12_uc010icv.1_Missense_Mutation_p.R405C|RGS12_uc003ggv.1_Missense_Mutation_p.R1206C|RGS12_uc003ggy.1_Silent_p.N552N	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1206	GoLoco.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1														0.430939	216.321027	217.073222	78	103	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Missense_Mutation	SNP	3401982	3401982	13769	4	C	T	T	19	19	RGS12	T	1	1
RGS12	6002	broad.mit.edu	36	4	3411103	3411103	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3411103C>T	uc003ggw.1	+	c.4238C>T	c.(4237-4239)TCG>TTG	p.S1413L	RGS12_uc003ggz.1_Missense_Mutation_p.S765L|RGS12_uc003gha.1_Missense_Mutation_p.S755L|RGS12_uc010icv.1_Missense_Mutation_p.S612L|HGFAC_uc003ghc.1_5'Flank|HGFAC_uc010icw.1_5'Flank	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1413						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1														0.254237	33.81911	37.039346	15	44	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Missense_Mutation	SNP	3411103	3411103	13769	4	C	T	T	31	31	RGS12	T	1	1
ARAP2	116984	broad.mit.edu	36	4	35761450	35761450	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:35761450C>A	uc003gsq.1	-	c.4443G>T	c.(4441-4443)AAG>AAT	p.K1481N	ARAP2_uc003gsp.1_Missense_Mutation_p.K653N	NM_015230	NP_631921	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1481	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.289855	47.966792	50.701053	20	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35761450	35761450	850	4	C	A	A	32	32	ARAP2	A	3	3
ARAP2	116984	broad.mit.edu	36	4	35799280	35799280	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:35799280G>T	uc003gsq.1	-	c.3810C>A	c.(3808-3810)TCC>TCA	p.S1270S	ARAP2_uc003gsp.1_Silent_p.S442S	NM_015230	NP_631921	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1270	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.261146	94.892061	103.007419	41	116	GG		KEEP	---	---	---	---	capture			Silent	SNP	35799280	35799280	850	4	G	T	T	35	35	ARAP2	T	3	3
ARAP2	116984	broad.mit.edu	36	4	35802956	35802956	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:35802956T>G	uc003gsq.1	-	c.3669A>C	c.(3667-3669)AAA>AAC	p.K1223N	ARAP2_uc003gsp.1_Missense_Mutation_p.K395N	NM_015230	NP_631921	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1223	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.4	230.168269	231.741324	72	108	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35802956	35802956	850	4	T	G	G	64	64	ARAP2	G	4	4
ARAP2	116984	broad.mit.edu	36	4	35888617	35888617	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:35888617C>T	uc003gsq.1	-	c.1277G>A	c.(1276-1278)AGA>AAA	p.R426K	ARAP2_uc003gsr.1_Missense_Mutation_p.R426K	NM_015230	NP_631921	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	426					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.291391	234.466873	246.246214	88	214	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35888617	35888617	850	4	C	T	T	32	32	ARAP2	T	2	2
RELL1	768211	broad.mit.edu	36	4	37327347	37327347	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:37327347G>A	uc003gsz.2	-	c.259C>T	c.(259-261)CGT>TGT	p.R87C	RELL1_uc010ifc.1_Missense_Mutation_p.R87C	NM_001085399	NP_001078869	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	87	Cytoplasmic (Potential).					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0														0.240084	258.622322	288.138275	115	364	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37327347	37327347	13687	4	G	A	A	37	37	RELL1	A	1	1
ADRA2C	152	broad.mit.edu	36	4	3739513	3739513	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3739513G>T	uc003ghm.1	+	c.1382G>T	c.(1381-1383)AGG>ATG	p.R461M	ADRA2C_uc010icx.1_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	461	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	Esophageal Squamous(12;454 628 4517 14479)								0.142857	11.225954	18.988219	9	54	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Missense_Mutation	SNP	3739513	3739513	340	4	G	T	T	35	35	ADRA2C	T	3	3
TBC1D1	23216	broad.mit.edu	36	4	37698637	37698637	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:37698637A>G	uc003gtb.1	+	c.1003A>G	c.(1003-1005)ATC>GTC	p.I335V	TBC1D1_uc010ifd.1_Intron	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	335	PID.					nucleus	Rab GTPase activator activity			ovary(1)	1														0.455414	955.37465	956.447846	286	342	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37698637	37698637	16119	4	A	G	G	16	16	TBC1D1	G	4	4
TBC1D1	23216	broad.mit.edu	36	4	37815309	37815309	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:37815309C>T	uc003gtb.1	+	c.3465C>T	c.(3463-3465)GAC>GAT	p.D1155D	TBC1D1_uc010ifd.1_Silent_p.D942D|TBC1D1_uc003gtd.1_Silent_p.D167D	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1155						nucleus	Rab GTPase activator activity			ovary(1)	1														0.277228	64.199063	68.686234	28	73	CC		KEEP	---	---	---	---	capture			Silent	SNP	37815309	37815309	16119	4	C	T	T	18	18	TBC1D1	T	2	2
TLR10	81793	broad.mit.edu	36	4	38452575	38452575	+	Silent	SNP	C	T	T	rs11096956	by-cluster,by-frequency,by-2hit-2allele,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38452575C>T	uc003gti.1	-	c.1032G>A	c.(1030-1032)CCG>CCA	p.P344P	TLR10_uc003gtj.1_Silent_p.P344P|TLR10_uc003gtk.1_Silent_p.P344P|TLR10_uc010ife.1_Silent_p.P344P	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	344	LRR 8.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity				0														0.415335	360.984759	362.945055	130	183	CC		KEEP	---	---	---	---	capture			Silent	SNP	38452575	38452575	16480	4	C	T	T	31	31	TLR10	T	1	1
TLR10	81793	broad.mit.edu	36	4	38452979	38452979	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38452979C>T	uc003gti.1	-	c.628G>A	c.(628-630)GGA>AGA	p.G210R	TLR10_uc003gtj.1_Missense_Mutation_p.G210R|TLR10_uc003gtk.1_Missense_Mutation_p.G210R|TLR10_uc010ife.1_Missense_Mutation_p.G210R	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	210	Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity				0														0.195745	103.206401	123.491999	46	189	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38452979	38452979	16480	4	C	T	T	21	21	TLR10	T	2	2
TLR10	81793	broad.mit.edu	36	4	38453334	38453334	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38453334G>T	uc003gti.1	-	c.273C>A	c.(271-273)ACC>ACA	p.T91T	TLR10_uc003gtj.1_Silent_p.T91T|TLR10_uc003gtk.1_Silent_p.T91T|TLR10_uc010ife.1_Silent_p.T91T	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	91	LRR 3.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity				0														0.197368	59.353294	72.32871	30	122	GG		KEEP	---	---	---	---	capture			Silent	SNP	38453334	38453334	16480	4	G	T	T	35	35	TLR10	T	3	3
TLR1	7096	broad.mit.edu	36	4	38475099	38475099	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38475099G>A	uc003gtl.1	-	c.1749C>T	c.(1747-1749)ATC>ATT	p.I583I	TLR1_uc010iff.1_Silent_p.I583I	NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1	583	Helical; (Potential).				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				0						GBM(5;216 373 40795 46382)								0.221805	122.878203	141.831383	59	207	GG		KEEP	---	---	---	---	capture			Silent	SNP	38475099	38475099	16479	4	G	A	A	37	37	TLR1	A	1	1
TLR6	10333	broad.mit.edu	36	4	38506863	38506863	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38506863G>A	uc003gtm.2	-	c.627C>T	c.(625-627)TTC>TTT	p.F209F	TLR6_uc010ifg.1_Silent_p.F209F|TLR6_uc010ifh.1_Silent_p.F209F	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	209	Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|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	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2														0.443299	123.024248	123.293286	43	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	38506863	38506863	16485	4	G	A	A	37	37	TLR6	A	1	1
TLR6	10333	broad.mit.edu	36	4	38507100	38507100	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38507100G>T	uc003gtm.2	-	c.390C>A	c.(388-390)TTC>TTA	p.F130L	TLR6_uc010ifg.1_Missense_Mutation_p.F130L|TLR6_uc010ifh.1_Missense_Mutation_p.F130L	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	130	LRR 4.|Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|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	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2														0.208791	74.932944	89.241069	38	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38507100	38507100	16485	4	G	T	T	45	45	TLR6	T	3	3
FAM114A1	92689	broad.mit.edu	36	4	38592971	38592971	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38592971G>A	uc003gtn.1	+	c.827G>A	c.(826-828)AGA>AAA	p.R276K		NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	276						cytoplasm				ovary(1)	1														0.181818	42.728837	53.194503	20	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38592971	38592971	5600	4	G	A	A	33	33	FAM114A1	A	2	2
KLHL5	51088	broad.mit.edu	36	4	38760161	38760161	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38760161A>G	uc003gtr.1	+	c.1025A>G	c.(1024-1026)CAC>CGC	p.H342R	KLHL5_uc003gtp.1_Missense_Mutation_p.H296R|KLHL5_uc003gtq.1_Missense_Mutation_p.H155R|KLHL5_uc003gts.1_Missense_Mutation_p.H342R|KLHL5_uc003gtt.1_Missense_Mutation_p.H281R	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	342						cytoplasm|cytoskeleton	actin binding			ovary(1)	1														0.152284	109.324833	155.196601	60	334	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38760161	38760161	8706	4	A	G	G	6	6	KLHL5	G	4	4
WDR19	57728	broad.mit.edu	36	4	38910201	38910201	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38910201G>A	uc003gtv.1	+	c.2167G>A	c.(2167-2169)GCA>ACA	p.A723T	WDR19_uc003gtw.1_Missense_Mutation_p.A320T	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	723					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1														0.446502	636.503008	637.715872	217	269	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38910201	38910201	17852	4	G	A	A	42	42	WDR19	A	2	2
WDR19	57728	broad.mit.edu	36	4	38912888	38912888	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38912888C>T	uc003gtv.1	+	c.2361C>T	c.(2359-2361)TTC>TTT	p.F787F	WDR19_uc003gtw.1_Silent_p.F384F	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	787	TPR 2.				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1														0.5	20.324456	20.324456	7	7	CC		KEEP	---	---	---	---	capture			Silent	SNP	38912888	38912888	17852	4	C	T	T	31	31	WDR19	T	1	1
WDR19	57728	broad.mit.edu	36	4	38956650	38956650	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38956650G>T	uc003gtv.1	+	c.4014G>T	c.(4012-4014)ACG>ACT	p.T1338T		NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1338					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1														0.429825	141.754426	142.24445	49	65	GG		KEEP	---	---	---	---	capture			Silent	SNP	38956650	38956650	17852	4	G	T	T	39	39	WDR19	T	3	3
RFC1	5981	broad.mit.edu	36	4	38986676	38986676	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38986676C>A	uc003gty.1	-	c.1860G>T	c.(1858-1860)AAG>AAT	p.K620N	RFC1_uc003gtx.1_Missense_Mutation_p.K620N	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	620					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)	3						Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)								0.391167	319.191577	322.49087	124	193	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38986676	38986676	13715	4	C	A	A	32	32	RFC1	A	3	3
RFC1	5981	broad.mit.edu	36	4	38994971	38994971	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38994971G>A	uc003gty.1	-	c.1162C>T	c.(1162-1164)CGA>TGA	p.R388*	RFC1_uc003gtx.1_Nonsense_Mutation_p.R388*	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	388					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)	3						Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)								0.166667	45.15357	61.589416	26	130	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	38994971	38994971	13715	4	G	A	A	37	37	RFC1	A	5	1
KLB	152831	broad.mit.edu	36	4	39112476	39112476	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:39112476G>T	uc003gua.1	+	c.1077G>T	c.(1075-1077)GAG>GAT	p.E359D		NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	359	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1														0.220532	116.588253	135.522555	58	205	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39112476	39112476	8644	4	G	T	T	33	33	KLB	T	3	3
PDS5A	23244	broad.mit.edu	36	4	39568274	39568274	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:39568274C>T	uc003guv.2	-	c.1876G>A	c.(1876-1878)GAA>AAA	p.E626K	PDS5A_uc010ifo.1_Missense_Mutation_p.E586K	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	626					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0														0.5	6.852973	6.852973	4	4	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39568274	39568274	12112	4	C	T	T	32	32	PDS5A	T	2	2
PDS5A	23244	broad.mit.edu	36	4	39600713	39600713	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:39600713G>T	uc003guv.2	-	c.578C>A	c.(577-579)TCT>TAT	p.S193Y	PDS5A_uc010ifo.1_Missense_Mutation_p.S153Y|PDS5A_uc003guw.2_Missense_Mutation_p.S193Y	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	193					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0														0.471429	88.95383	89.004419	33	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39600713	39600713	12112	4	G	T	T	33	33	PDS5A	T	3	3
N4BP2	55728	broad.mit.edu	36	4	39780232	39780232	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:39780232G>T	uc003guy.2	+	c.372G>T	c.(370-372)GAG>GAT	p.E124D	N4BP2_uc010ifq.1_Missense_Mutation_p.E44D|N4BP2_uc010ifr.1_Missense_Mutation_p.E44D	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	124	Potential.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8										693				0.185393	58.856056	75.388947	33	145	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39780232	39780232	10505	4	G	T	T	33	33	N4BP2	T	3	3
N4BP2	55728	broad.mit.edu	36	4	39800030	39800030	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:39800030G>T	uc003guy.2	+	c.3904G>T	c.(3904-3906)GAA>TAA	p.E1302*	N4BP2_uc010ifq.1_Nonsense_Mutation_p.E1222*|N4BP2_uc010ifr.1_Nonsense_Mutation_p.E1222*	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1302						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8									p.E1302*(HT115-Tumor)	693				0.1875	26.370983	33.69512	15	65	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	39800030	39800030	10505	4	G	T	T	33	33	N4BP2	T	5	3
RHOH	399	broad.mit.edu	36	4	39921804	39921804	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:39921804G>T	uc003guz.2	+	c.403G>T	c.(403-405)GAA>TAA	p.E135*	RHOH_uc010ifs.1_Nonsense_Mutation_p.E135*	NM_004310	NP_004301	Q15669	RHOH_HUMAN	ras homolog gene family, member H	135					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			ovary(1)	1										33				0.125	15.677124	34.377721	17	119	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	39921804	39921804	13815	4	G	T	T	41	41	RHOH	T	5	3
RBM47	54502	broad.mit.edu	36	4	40134960	40134960	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:40134960G>A	uc003gvc.2	-	c.708C>T	c.(706-708)GAC>GAT	p.D236D	RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc003gvd.2_Silent_p.D236D|RBM47_uc003gvg.1_Silent_p.D236D	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	236						nucleus	nucleotide binding|RNA binding			breast(3)	3														0.407563	255.412237	257.192606	97	141	GG		KEEP	---	---	---	---	capture			Silent	SNP	40134960	40134960	13603	4	G	A	A	40	40	RBM47	A	1	1
NSUN7	79730	broad.mit.edu	36	4	40471628	40471628	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:40471628G>T	uc003gvj.2	+	c.729G>T	c.(727-729)GTG>GTT	p.V243V	NSUN7_uc003gvi.2_Silent_p.V243V|NSUN7_uc010ift.1_Silent_p.V243V|NSUN7_uc003gvh.2_Silent_p.V243V	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0														0.217877	82.516608	95.661361	39	140	GG		KEEP	---	---	---	---	capture			Silent	SNP	40471628	40471628	11088	4	G	T	T	47	47	NSUN7	T	3	3
LIMCH1	22998	broad.mit.edu	36	4	41386359	41386359	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:41386359G>A	uc003gvz.2	+	c.4225G>A	c.(4225-4227)GCA>ACA	p.A1409T	LIMCH1_uc003gvu.2_Missense_Mutation_p.A1025T|LIMCH1_uc003gvv.2_Missense_Mutation_p.A999T|LIMCH1_uc003gvw.2_Missense_Mutation_p.A998T|LIMCH1_uc003gvx.2_Missense_Mutation_p.A1011T|LIMCH1_uc003gwe.2_Missense_Mutation_p.A922T|LIMCH1_uc003gvy.2_Missense_Mutation_p.A827T|LIMCH1_uc003gwa.2_Missense_Mutation_p.A839T|LIMCH1_uc003gwc.2_Missense_Mutation_p.A844T|LIMCH1_uc003gwd.2_Missense_Mutation_p.A832T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	1025	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)	3														0.406504	272.933694	274.817748	100	146	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41386359	41386359	9123	4	G	A	A	46	46	LIMCH1	A	2	2
BEND4	389206	broad.mit.edu	36	4	41840528	41840528	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:41840528G>T	uc003gwn.1	-	c.728C>A	c.(727-729)TCT>TAT	p.S243Y	BEND4_uc003gwm.1_Missense_Mutation_p.S243Y	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	243											0														0.20202	38.440575	46.612878	20	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41840528	41840528	1423	4	G	T	T	33	33	BEND4	T	3	3
SHISA3	152573	broad.mit.edu	36	4	42097912	42097912	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:42097912G>A	uc003gwp.1	+	c.404G>A	c.(403-405)CGC>CAC	p.R135H		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3	135	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1														0.230263	280.256377	320.851725	140	468	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42097912	42097912	14773	4	G	A	A	38	38	SHISA3	A	1	1
ATP8A1	10396	broad.mit.edu	36	4	42120422	42120422	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:42120422C>T	uc003gwr.2	-	c.3181G>A	c.(3181-3183)GCA>ACA	p.A1061T	ATP8A1_uc003gws.2_Missense_Mutation_p.A1046T|ATP8A1_uc003gwq.2_Missense_Mutation_p.A287T	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1061	Helical; (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(1)	1					Phosphatidylserine(DB00144)									0.2	13.202806	16.135261	7	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42120422	42120422	1211	4	C	T	T	26	26	ATP8A1	T	2	2
ATP8A1	10396	broad.mit.edu	36	4	42161467	42161467	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:42161467G>A	uc003gwr.2	-	c.2616C>T	c.(2614-2616)ATC>ATT	p.I872I	ATP8A1_uc003gws.2_Silent_p.I857I|ATP8A1_uc003gwq.2_Silent_p.I98I	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	872	Helical; (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(1)	1					Phosphatidylserine(DB00144)									0.245399	89.520998	99.144933	40	123	GG		KEEP	---	---	---	---	capture			Silent	SNP	42161467	42161467	1211	4	G	A	A	37	37	ATP8A1	A	1	1
ATP8A1	10396	broad.mit.edu	36	4	42322393	42322393	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:42322393G>T	uc003gwr.2	-	c.259C>A	c.(259-261)CTG>ATG	p.L87M	ATP8A1_uc003gws.2_Missense_Mutation_p.L87M	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	87	Extracellular (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(1)	1					Phosphatidylserine(DB00144)									0.358696	89.243548	90.863601	33	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42322393	42322393	1211	4	G	T	T	34	34	ATP8A1	T	3	3
ATP8A1	10396	broad.mit.edu	36	4	42323783	42323783	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:42323783G>A	uc003gwr.2	-	c.150C>T	c.(148-150)TGC>TGT	p.C50C	ATP8A1_uc003gws.2_Silent_p.C50C	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	50	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(1)	1					Phosphatidylserine(DB00144)									0.5	119.965072	119.965072	45	45	GG		KEEP	---	---	---	---	capture			Silent	SNP	42323783	42323783	1211	4	G	A	A	46	46	ATP8A1	A	2	2
OTOP1	133060	broad.mit.edu	36	4	4250453	4250453	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:4250453C>A	uc003ghp.1	-	c.1009G>T	c.(1009-1011)GGG>TGG	p.G337W		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	337					biomineral tissue development	extracellular space|integral to membrane				ovary(2)	2														0.579832	203.277754	203.93756	69	50	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Missense_Mutation	SNP	4250453	4250453	11717	4	C	A	A	21	21	OTOP1	A	3	3
LYAR	55646	broad.mit.edu	36	4	4334521	4334521	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:4334521C>T	uc003ght.1	-	c.127G>A	c.(127-129)GAT>AAT	p.D43N		NM_017816	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	43	C2HC-type 2.					nucleolus	metal ion binding|protein binding				0														0.589212	422.582307	424.260206	142	99	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Missense_Mutation	SNP	4334521	4334521	9480	4	C	T	T	31	31	LYAR	T	1	1
ZBTB49	166793	broad.mit.edu	36	4	4373455	4373455	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:4373455C>T	uc003ghu.1	+	c.1809C>T	c.(1807-1809)ATC>ATT	p.I603I	ZBTB49_uc003ghv.1_Silent_p.I86I|ZBTB49_uc010icy.1_Non-coding_Transcript|ZBTB49_uc010icz.1_Silent_p.I181I	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.252874	49.209424	54.03445	22	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	4373455	4373455	18137	4	C	T	T	31	31	ZBTB49	T	1	1
GABRG1	2565	broad.mit.edu	36	4	45755266	45755266	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:45755266C>T	uc003gxb.1	-	c.756G>A	c.(754-756)ACG>ACA	p.T252T		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	252	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2														0.171053	44.448862	60.011786	26	126	CC		KEEP	---	---	---	---	capture		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Silent	SNP	45755266	45755266	6422	4	C	T	T	31	31	GABRG1	T	1	1
GABRG1	2565	broad.mit.edu	36	4	45762159	45762159	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:45762159C>T	uc003gxb.1	-	c.521G>A	c.(520-522)GGA>GAA	p.G174E		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	174	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2														0.155689	43.745151	62.650821	26	141	CC		KEEP	---	---	---	---	capture		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Missense_Mutation	SNP	45762159	45762159	6422	4	C	T	T	30	30	GABRG1	T	2	2
GABRA2	2555	broad.mit.edu	36	4	46009306	46009306	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:46009306C>T	uc003gxc.2	-	c.440G>A	c.(439-441)CGA>CAA	p.R147Q	GABRA2_uc010igc.1_Missense_Mutation_p.R147Q|GABRA2_uc003gxe.2_Missense_Mutation_p.R147Q	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	147	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.436975	294.868527	295.691177	104	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46009306	46009306	6412	4	C	T	T	31	31	GABRA2	T	1	1
GABRA2	2555	broad.mit.edu	36	4	46029405	46029405	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:46029405A>G	uc003gxc.2	-	c.239T>C	c.(238-240)GTC>GCC	p.V80A	GABRA2_uc010igc.1_Missense_Mutation_p.V80A|GABRA2_uc003gxe.2_Missense_Mutation_p.V80A	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	80	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.168224	77.844032	100.213976	36	178	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46029405	46029405	6412	4	A	G	G	10	10	GABRA2	G	4	4
COX7B2	170712	broad.mit.edu	36	4	46431782	46431782	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:46431782C>A	uc003gxf.1	-	c.185G>T	c.(184-186)GGA>GTA	p.G62V	COX7B2_uc010ige.1_Non-coding_Transcript|COX7B2_uc010igf.1_Missense_Mutation_p.G62V	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	62	Mitochondrial intermembrane (By similarity).					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0														0.484305	290.850787	290.899933	108	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46431782	46431782	3921	4	C	A	A	30	30	COX7B2	A	3	3
GABRA4	2557	broad.mit.edu	36	4	46625498	46625498	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:46625498C>A	uc003gxg.1	-	c.1166G>T	c.(1165-1167)AGA>ATA	p.R389I		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	389	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.504274	162.500211	162.501835	59	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46625498	46625498	6414	4	C	A	A	32	32	GABRA4	A	3	3
GABRA4	2557	broad.mit.edu	36	4	46689621	46689621	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:46689621C>T	uc003gxg.1	-	c.186G>A	c.(184-186)AGG>AGA	p.R62R		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	62	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.154229	46.485917	69.472295	31	170	CC		KEEP	---	---	---	---	capture			Silent	SNP	46689621	46689621	6414	4	C	T	T	26	26	GABRA4	T	2	2
ATP10D	57205	broad.mit.edu	36	4	47209538	47209538	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47209538G>A	uc003gxk.1	+	c.224G>A	c.(223-225)CGA>CAA	p.R75Q	ATP10D_uc003gxj.2_Missense_Mutation_p.R75Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	75	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														0.219178	102.782449	118.695976	48	171	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47209538	47209538	1137	4	G	A	A	37	37	ATP10D	A	1	1
ATP10D	57205	broad.mit.edu	36	4	47212412	47212412	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47212412G>A	uc003gxk.1	+	c.453G>A	c.(451-453)CAG>CAA	p.Q151Q	ATP10D_uc003gxj.2_Silent_p.Q151Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	151	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														0.177305	47.680988	61.520118	25	116	GG		KEEP	---	---	---	---	capture			Silent	SNP	47212412	47212412	1137	4	G	A	A	33	33	ATP10D	A	2	2
ATP10D	57205	broad.mit.edu	36	4	47283936	47283936	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47283936C>A	uc003gxk.1	+	c.3897C>A	c.(3895-3897)TTC>TTA	p.F1299L	ATP10D_uc003gxl.1_Missense_Mutation_p.F547L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1299	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3														0.416438	401.590888	403.82551	152	213	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47283936	47283936	1137	4	C	A	A	32	32	ATP10D	A	3	3
CORIN	10699	broad.mit.edu	36	4	47320349	47320349	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47320349C>T	uc003gxm.1	-	c.2536G>A	c.(2536-2538)GAG>AAG	p.E846K		NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	846	Extracellular (Potential).|Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)	1														0.18125	52.572252	67.858887	29	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47320349	47320349	3890	4	C	T	T	31	31	CORIN	T	1	1
CORIN	10699	broad.mit.edu	36	4	47377002	47377002	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47377002G>A	uc003gxm.1	-	c.1045C>T	c.(1045-1047)CGC>TGC	p.R349C	CORIN_uc003gxn.2_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	349	Extracellular (Potential).|LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)	1														0.178571	35.828597	46.72577	20	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47377002	47377002	3890	4	G	A	A	37	37	CORIN	A	1	1
NFXL1	152518	broad.mit.edu	36	4	47545109	47545109	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47545109G>A	uc010igh.1	-	c.2564C>T	c.(2563-2565)GCT>GTT	p.A855V	NFXL1_uc003gxp.1_Missense_Mutation_p.A855V|NFXL1_uc003gxq.2_Non-coding_Transcript|NFXL1_uc010igi.1_Missense_Mutation_p.A855V|NFXL1_uc003gxo.1_Missense_Mutation_p.A180V	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	855	Potential.				regulation of transcription, DNA-dependent	integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.220588	62.96805	72.752675	30	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47545109	47545109	10788	4	G	A	A	34	34	NFXL1	A	2	2
CNGA1	1259	broad.mit.edu	36	4	47633581	47633581	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47633581C>T	uc003gxu.1	-	c.1894G>A	c.(1894-1896)GCC>ACC	p.A632T	CNGA1_uc003gxs.1_Missense_Mutation_p.A563T|CNGA1_uc003gxt.2_Missense_Mutation_p.A563T	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	563	cGMP (Potential).|Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2														0.465909	472.407449	472.75778	164	188	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47633581	47633581	3734	4	C	T	T	26	26	CNGA1	T	2	2
CNGA1	1259	broad.mit.edu	36	4	47634377	47634377	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47634377G>T	uc003gxu.1	-	c.1098C>A	c.(1096-1098)ATC>ATA	p.I366I	CNGA1_uc003gxs.1_Silent_p.I297I|CNGA1_uc003gxt.2_Silent_p.I297I	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	297	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2														0.224599	85.344556	98.387425	42	145	GG		KEEP	---	---	---	---	capture			Silent	SNP	47634377	47634377	3734	4	G	T	T	33	33	CNGA1	T	3	3
TEC	7006	broad.mit.edu	36	4	47842249	47842249	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47842249C>T	uc003gxz.1	-	c.1186G>A	c.(1186-1188)GCA>ACA	p.A396T		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	396	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(1)	5										498				0.464646	377.611757	377.934626	138	159	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47842249	47842249	16269	4	C	T	T	27	27	TEC	T	1	1
TEC	7006	broad.mit.edu	36	4	47864721	47864721	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47864721G>A	uc003gxz.1	-	c.502C>T	c.(502-504)CCT>TCT	p.P168S		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	168					intracellular protein kinase cascade|protein phosphorylation	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(1)	5										498				0.193833	77.198189	97.043392	44	183	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47864721	47864721	16269	4	G	A	A	42	42	TEC	A	2	2
TEC	7006	broad.mit.edu	36	4	47925305	47925305	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47925305C>A	uc003gxz.1	-	c.84G>T	c.(82-84)GAG>GAT	p.E28D		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	28	PH.				intracellular protein kinase cascade|protein phosphorylation	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(1)	5										498				0.175532	54.143986	72.828772	33	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47925305	47925305	16269	4	C	A	A	32	32	TEC	A	3	3
SLAIN2	57606	broad.mit.edu	36	4	48079684	48079684	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48079684G>A	uc003gya.2	+	c.1205G>A	c.(1204-1206)AGC>AAC	p.S402N	SLAIN2_uc003gyb.1_Missense_Mutation_p.S72N	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	402											0														0.368421	36.249393	36.823659	14	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48079684	48079684	14861	4	G	A	A	34	34	SLAIN2	A	2	2
SLAIN2	57606	broad.mit.edu	36	4	48117213	48117213	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48117213C>T	uc003gya.2	+	c.1675C>T	c.(1675-1677)CGC>TGC	p.R559C		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	559											0														0.130631	33.553523	62.993147	29	193	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48117213	48117213	14861	4	C	T	T	31	31	SLAIN2	T	1	1
FRYL	285527	broad.mit.edu	36	4	48211833	48211833	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48211833C>T	uc003gyh.1	-	c.7906G>A	c.(7906-7908)GAA>AAA	p.E2636K	FRYL_uc003gyg.1_Missense_Mutation_p.E1332K|FRYL_uc003gyi.1_Missense_Mutation_p.E1524K|FRYL_uc003gyf.1_Missense_Mutation_p.E32K	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2636					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.460177	303.428043	303.744715	104	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48211833	48211833	6314	4	C	T	T	32	32	FRYL	T	2	2
FRYL	285527	broad.mit.edu	36	4	48219845	48219845	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48219845G>A	uc003gyh.1	-	c.7351C>T	c.(7351-7353)CGC>TGC	p.R2451C	FRYL_uc003gyg.1_Missense_Mutation_p.R1147C|FRYL_uc003gyi.1_Missense_Mutation_p.R1339C|FRYL_uc003gyj.1_Missense_Mutation_p.R746C|FRYL_uc003gyf.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2451					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.471204	254.014542	254.153622	90	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48219845	48219845	6314	4	G	A	A	37	37	FRYL	A	1	1
FRYL	285527	broad.mit.edu	36	4	48237276	48237276	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48237276C>A	uc003gyh.1	-	c.6146G>T	c.(6145-6147)AGC>ATC	p.S2049I	FRYL_uc003gyg.1_Missense_Mutation_p.S745I|FRYL_uc003gyi.1_Missense_Mutation_p.S937I|FRYL_uc003gyj.1_Missense_Mutation_p.S344I	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2049					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.248062	142.759018	157.670963	64	194	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48237276	48237276	6314	4	C	A	A	28	28	FRYL	A	3	3
FRYL	285527	broad.mit.edu	36	4	48240757	48240757	+	Missense_Mutation	SNP	C	T	T	rs955713	by-cluster,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48240757C>T	uc003gyh.1	-	c.5416G>A	c.(5416-5418)GAA>AAA	p.E1806K	FRYL_uc003gyg.1_Missense_Mutation_p.E502K|FRYL_uc003gyi.1_Missense_Mutation_p.E694K|FRYL_uc003gyj.1_Missense_Mutation_p.E101K	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1806					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.245098	60.923377	66.961031	25	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48240757	48240757	6314	4	C	T	T	30	30	FRYL	T	2	2
FRYL	285527	broad.mit.edu	36	4	48247432	48247432	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48247432G>A	uc003gyh.1	-	c.4567C>T	c.(4567-4569)CGG>TGG	p.R1523W	FRYL_uc003gyg.1_Missense_Mutation_p.R219W|FRYL_uc003gyi.1_Missense_Mutation_p.R412W|FRYL_uc003gyk.1_Missense_Mutation_p.R1523W	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1523					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.410405	393.175349	395.602855	142	204	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48247432	48247432	6314	4	G	A	A	37	37	FRYL	A	1	1
OCIAD1	54940	broad.mit.edu	36	4	48546841	48546841	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48546841G>A	uc010igk.1	+	c.377G>A	c.(376-378)CGA>CAA	p.R126Q	OCIAD1_uc003gyo.1_Missense_Mutation_p.R121Q|OCIAD1_uc003gyp.1_Missense_Mutation_p.R121Q|OCIAD1_uc003gyq.1_Missense_Mutation_p.R121Q|OCIAD1_uc003gyr.1_Missense_Mutation_p.R121Q|OCIAD1_uc003gys.1_Missense_Mutation_p.R121Q	NM_017830	NP_060300	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1 isoform 1	121						endosome	protein binding				0														0.216783	130.698141	151.859903	62	224	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48546841	48546841	11222	4	G	A	A	37	37	OCIAD1	A	1	1
OCIAD2	132299	broad.mit.edu	36	4	48582303	48582303	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48582303C>T	uc003gyt.1	-	c.420G>A	c.(418-420)AAG>AAA	p.K140K	OCIAD2_uc003gyu.1_3'UTR	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	140						endosome					0														0.175281	155.663452	199.930507	78	367	CC		KEEP	---	---	---	---	capture			Silent	SNP	48582303	48582303	11223	4	C	T	T	28	28	OCIAD2	T	2	2
OCIAD2	132299	broad.mit.edu	36	4	48589554	48589554	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48589554C>T	uc003gyt.1	-	c.375G>A	c.(373-375)CAG>CAA	p.Q125Q	OCIAD2_uc003gyu.1_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	125						endosome					0														0.224839	232.91054	265.417506	105	362	CC		KEEP	---	---	---	---	capture			Silent	SNP	48589554	48589554	11223	4	C	T	T	28	28	OCIAD2	T	2	2
CWH43	80157	broad.mit.edu	36	4	48704078	48704078	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48704078G>T	uc003gyv.1	+	c.1164G>T	c.(1162-1164)AAG>AAT	p.K388N		NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	hypothetical protein LOC80157	388					GPI anchor biosynthetic process	integral to membrane				ovary(1)	1														0.128	15.702321	32.579439	16	109	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48704078	48704078	4233	4	G	T	T	33	33	CWH43	T	3	3
CWH43	80157	broad.mit.edu	36	4	48734825	48734825	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48734825G>A	uc003gyv.1	+	c.1674G>A	c.(1672-1674)AGG>AGA	p.R558R		NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	hypothetical protein LOC80157	558					GPI anchor biosynthetic process	integral to membrane				ovary(1)	1														0.469854	673.454195	673.829501	226	255	GG		KEEP	---	---	---	---	capture			Silent	SNP	48734825	48734825	4233	4	G	A	A	41	41	CWH43	A	2	2
MSX1	4487	broad.mit.edu	36	4	4915376	4915376	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:4915376C>T	uc003gif.1	+	c.517C>T	c.(517-519)CGT>TGT	p.R173C		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	167	Homeobox.				skeletal system development	nucleus	sequence-specific DNA binding transcription factor activity				0														0.238462	141.541577	157.775496	62	198	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Missense_Mutation	SNP	4915376	4915376	10288	4	C	T	T	23	23	MSX1	T	1	1
PIGG	54872	broad.mit.edu	36	4	499807	499807	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:499807C>T	uc003gak.2	+	c.947C>T	c.(946-948)GCG>GTG	p.A316V	PIGG_uc003gai.2_Non-coding_Transcript|PIGG_uc003gaj.2_Missense_Mutation_p.A316V|PIGG_uc010ibf.1_Missense_Mutation_p.A183V|PIGG_uc003gal.2_Missense_Mutation_p.A227V|PIGG_uc003gam.2_Missense_Mutation_p.A227V|PIGG_uc003gan.2_Missense_Mutation_p.A227V	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	316	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			ovary(1)|central_nervous_system(1)	2														0.254545	89.783186	98.736749	42	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	499807	499807	12312	4	C	T	T	27	27	PIGG	T	1	1
DCUN1D4	23142	broad.mit.edu	36	4	52435215	52435215	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:52435215C>A	uc003gze.1	+	c.158C>A	c.(157-159)TCT>TAT	p.S53Y	DCUN1D4_uc003gzf.1_Missense_Mutation_p.S53Y|DCUN1D4_uc003gzg.1_Non-coding_Transcript|DCUN1D4_uc003gzh.1_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain	53										ovary(2)	2														0.23871	76.681877	86.360671	37	118	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		Missense_Mutation	SNP	52435215	52435215	4487	4	C	A	A	32	32	DCUN1D4	A	3	3
LRRC66	339977	broad.mit.edu	36	4	52555970	52555970	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:52555970C>T	uc003gzi.1	-	c.1975G>A	c.(1975-1977)GGT>AGT	p.G659S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	659						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.155556	35.789543	51.086469	21	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52555970	52555970	9393	4	C	T	T	23	23	LRRC66	T	1	1
SPATA18	132671	broad.mit.edu	36	4	52639740	52639740	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:52639740C>T	uc003gzl.1	+	c.1103C>T	c.(1102-1104)TCG>TTG	p.S368L	SPATA18_uc003gzk.1_Missense_Mutation_p.S368L|SPATA18_uc010igl.1_Non-coding_Transcript	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	368					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)	2														0.208029	116.81576	138.460478	57	217	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		Missense_Mutation	SNP	52639740	52639740	15511	4	C	T	T	31	31	SPATA18	T	1	1
SCFD2	152579	broad.mit.edu	36	4	53913592	53913592	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:53913592C>T	uc003gzu.1	-	c.937G>A	c.(937-939)GCG>ACG	p.A313T	SCFD2_uc010igm.1_Missense_Mutation_p.A313T	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	313					protein transport|vesicle docking involved in exocytosis			p.A313V(1)		ovary(2)|pancreas(1)	3														0.426752	195.889436	196.62619	67	90	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		Missense_Mutation	SNP	53913592	53913592	14371	4	C	T	T	28	28	SCFD2	T	2	2
PDGFRA	5156	broad.mit.edu	36	4	53951537	53951537	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:53951537C>A	uc003haa.1	+	c.490C>A	c.(490-492)CCA>ACA	p.P164T	FIP1L1_uc003gzy.1_Missense_Mutation_p.P164T|FIP1L1_uc003gzz.1_Missense_Mutation_p.P149T|FIP1L1_uc003hab.1_Missense_Mutation_p.P152T|FIP1L1_uc003hac.1_5'UTR|FIP1L1_uc003gzx.2_Missense_Mutation_p.P149T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:Variant_position_missing_in_P16234_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)				Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.112583	12.656757	35.050526	17	134	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Missense_Mutation	SNP	53951537	53951537	12082	4	C	A	A	18	18	PDGFRA	A	3	3
FIP1L1	81608	broad.mit.edu	36	4	54019588	54019588	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:54019588G>A	uc003gzy.1	+	c.1511G>A	c.(1510-1512)CGA>CAA	p.R504Q	PDGFRA_uc003haa.1_Intron|FIP1L1_uc003gzz.1_Missense_Mutation_p.R430Q|FIP1L1_uc003hab.1_Missense_Mutation_p.R469Q|FIP1L1_uc003hac.1_Missense_Mutation_p.R258Q|FIP1L1_uc010ign.1_Non-coding_Transcript|FIP1L1_uc003had.1_Missense_Mutation_p.D89N|FIP1L1_uc003hae.1_Missense_Mutation_p.D92N	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	504	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2										17				0.182692	35.8607	45.696059	19	85	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		Missense_Mutation	SNP	54019588	54019588	6134	4	G	A	A	37	37	FIP1L1	A	1	1
LNX1	84708	broad.mit.edu	36	4	54042755	54042755	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:54042755G>A	uc003hag.2	-	c.1374C>T	c.(1372-1374)CTC>CTT	p.L458L	PDGFRA_uc003haa.1_Intron|LNX1_uc003hah.2_Non-coding_Transcript|LNX1_uc003haf.2_Silent_p.L362L	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	458	PDZ 2.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)													0.300813	87.710268	92.082043	37	86	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		Silent	SNP	54042755	54042755	9194	4	G	A	A	37	37	LNX1	A	1	1
PDGFRA	5156	broad.mit.edu	36	4	54824828	54824828	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:54824828C>A	uc003han.2	+	c.605C>A	c.(604-606)CCA>CAA	p.P202Q	PDGFRA_uc003haa.1_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.P202Q|PDGFRA_uc010igq.1_Missense_Mutation_p.P96Q|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	202	Ig-like C2-type 3.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)				Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.237288	61.64345	69.085329	28	90	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Missense_Mutation	SNP	54824828	54824828	12082	4	C	A	A	21	21	PDGFRA	A	3	3
KDR	3791	broad.mit.edu	36	4	55659719	55659719	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:55659719C>T	uc003has.1	-	c.2275G>A	c.(2275-2277)GAA>AAA	p.E759K	KDR_uc003hat.1_Missense_Mutation_p.E759K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III	759	Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)				Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.198413	52.39721	63.070724	25	101	CC		KEEP	---	---	---	---	capture	Epithelial(7;0.189)		Missense_Mutation	SNP	55659719	55659719	8445	4	C	T	T	30	30	KDR	T	2	2
KDR	3791	broad.mit.edu	36	4	55682074	55682074	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:55682074T>C	uc003has.1	-	c.108A>G	c.(106-108)ATA>ATG	p.I36M	KDR_uc003hat.1_Missense_Mutation_p.I36M	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III	36	Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)				Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.415094	224.93878	225.93519	66	93	TT		KEEP	---	---	---	---	capture	Epithelial(7;0.189)		Missense_Mutation	SNP	55682074	55682074	8445	4	T	C	C	57	57	KDR	C	4	4
C4orf6	10141	broad.mit.edu	36	4	5578119	5578119	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:5578119A>G	uc003gii.1	+	c.161A>G	c.(160-162)GAC>GGC	p.D54G		NM_005750	NP_005741	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	54					nervous system development						0														0.514563	180.482838	180.502112	53	50	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5578119	5578119	2376	4	A	G	G	10	10	C4orf6	G	4	4
SRD5A3	79644	broad.mit.edu	36	4	55930979	55930979	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:55930979G>A	uc003hau.1	+	c.921G>A	c.(919-921)CCG>CCA	p.P307P		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	307	Cytoplasmic (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|oxidation-reduction process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)													0.384106	314.298347	317.86358	116	186	GG		KEEP	---	---	---	---	capture	Epithelial(7;0.0179)		Silent	SNP	55930979	55930979	15654	4	G	A	A	37	37	SRD5A3	A	1	1
CLOCK	9575	broad.mit.edu	36	4	56020160	56020160	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56020160A>G	uc003haz.1	-	c.585T>C	c.(583-585)TGT>TGC	p.C195C	CLOCK_uc003hba.1_Silent_p.C195C	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	195					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription regulator activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)													0.438596	244.405875	244.966441	75	96	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		Silent	SNP	56020160	56020160	3687	4	A	G	G	10	10	CLOCK	G	4	4
EVC2	132884	broad.mit.edu	36	4	5637291	5637291	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:5637291G>A	uc003gij.1	-	c.3017C>T	c.(3016-3018)ACC>ATC	p.T1006I	EVC2_uc003gik.1_Missense_Mutation_p.T926I	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1006	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5														0.28125	43.622475	46.375408	18	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5637291	5637291	5479	4	G	A	A	44	44	EVC2	A	2	2
EXOC1	55763	broad.mit.edu	36	4	56419301	56419301	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56419301C>T	uc003hbe.1	+	c.55C>T	c.(55-57)CGC>TGC	p.R19C	EXOC1_uc003hbf.1_Missense_Mutation_p.R19C|EXOC1_uc003hbg.1_Missense_Mutation_p.R19C	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	19					exocytosis|protein transport	exocyst				ovary(2)|central_nervous_system(1)|skin(1)	4	Glioma(25;0.08)|all_neural(26;0.101)													0.441176	289.020726	289.740838	105	133	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56419301	56419301	5494	4	C	T	T	19	19	EXOC1	T	1	1
EXOC1	55763	broad.mit.edu	36	4	56451161	56451161	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56451161C>T	uc003hbe.1	+	c.1391C>T	c.(1390-1392)TCG>TTG	p.S464L	EXOC1_uc003hbf.1_Missense_Mutation_p.S464L|EXOC1_uc003hbg.1_Missense_Mutation_p.S449L	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	464					exocytosis|protein transport	exocyst				ovary(2)|central_nervous_system(1)|skin(1)	4	Glioma(25;0.08)|all_neural(26;0.101)													0.421569	241.406375	242.503075	86	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56451161	56451161	5494	4	C	T	T	31	31	EXOC1	T	1	1
CEP135	9662	broad.mit.edu	36	4	56526653	56526653	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56526653C>T	uc003hbi.1	+	c.915C>T	c.(913-915)GTC>GTT	p.V305V	CEP135_uc010igz.1_Silent_p.V135V|CEP135_uc003hbj.1_Silent_p.V11V	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	305	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Glioma(25;0.08)|all_neural(26;0.101)													0.107843	7.950584	23.508461	11	91	CC		KEEP	---	---	---	---	capture			Silent	SNP	56526653	56526653	3380	4	C	T	T	31	31	CEP135	T	1	1
CEP135	9662	broad.mit.edu	36	4	56560248	56560248	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56560248G>A	uc003hbi.1	+	c.2033G>A	c.(2032-2034)CGG>CAG	p.R678Q	CEP135_uc003hbj.1_Missense_Mutation_p.R384Q	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	678	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Glioma(25;0.08)|all_neural(26;0.101)													0.232558	45.973345	51.594668	20	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56560248	56560248	3380	4	G	A	A	39	39	CEP135	A	1	1
CEP135	9662	broad.mit.edu	36	4	56570740	56570740	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56570740G>A	uc003hbi.1	+	c.2419G>A	c.(2419-2421)GAT>AAT	p.D807N	CEP135_uc003hbj.1_Missense_Mutation_p.D513N	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	807	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Glioma(25;0.08)|all_neural(26;0.101)													0.383333	125.016374	126.450101	46	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56570740	56570740	3380	4	G	A	A	37	37	CEP135	A	1	1
EVC2	132884	broad.mit.edu	36	4	5681301	5681301	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:5681301C>A	uc003gij.1	-	c.1772G>T	c.(1771-1773)AGA>ATA	p.R591I	EVC2_uc003gik.1_Missense_Mutation_p.R511I	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	591						integral to membrane				large_intestine(3)|ovary(2)	5														0.368687	182.905176	185.912151	73	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5681301	5681301	5479	4	C	A	A	32	32	EVC2	A	3	3
KIAA1211	57482	broad.mit.edu	36	4	56875698	56875698	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56875698G>A	uc003hbk.2	+	c.1273G>A	c.(1273-1275)GAC>AAC	p.D425N	KIAA1211_uc010iha.1_Missense_Mutation_p.D418N|KIAA1211_uc003hbm.1_Missense_Mutation_p.D311N	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	425	Glu-rich.									ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.5	8.381487	8.381487	4	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56875698	56875698	8523	4	G	A	A	37	37	KIAA1211	A	1	1
KIAA1211	57482	broad.mit.edu	36	4	56885181	56885181	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56885181C>A	uc003hbk.2	+	c.3533C>A	c.(3532-3534)TCT>TAT	p.S1178Y		NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1178										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.208333	36.925125	44.516526	20	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56885181	56885181	8523	4	C	A	A	32	32	KIAA1211	A	3	3
AASDH	132949	broad.mit.edu	36	4	56910237	56910237	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56910237G>A	uc003hbn.1	-	c.2437C>T	c.(2437-2439)CGA>TGA	p.R813*	AASDH_uc010ihb.1_Nonsense_Mutation_p.R328*|AASDH_uc003hbo.1_Nonsense_Mutation_p.R713*|AASDH_uc010ihc.1_Nonsense_Mutation_p.R813*|AASDH_uc003hbp.2_Nonsense_Mutation_p.R813*	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	813					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)												0.386243	200.329575	202.473238	73	116	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	56910237	56910237	23	4	G	A	A	37	37	AASDH	A	5	1
AASDH	132949	broad.mit.edu	36	4	56932525	56932525	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56932525G>A	uc003hbn.1	-	c.710C>T	c.(709-711)GCT>GTT	p.A237V	AASDH_uc010ihb.1_5'UTR|AASDH_uc003hbo.1_Missense_Mutation_p.A137V|AASDH_uc010ihc.1_Missense_Mutation_p.A237V|AASDH_uc003hbp.2_Missense_Mutation_p.A237V	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	237					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)												0.261364	56.180531	60.718994	23	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56932525	56932525	23	4	G	A	A	34	34	AASDH	A	2	2
EVC2	132884	broad.mit.edu	36	4	5718274	5718274	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:5718274G>T	uc003gij.1	-	c.874C>A	c.(874-876)CTG>ATG	p.L292M	EVC2_uc003gik.1_Missense_Mutation_p.L212M	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	292						integral to membrane				large_intestine(3)|ovary(2)	5														0.310345	42.222001	44.084258	18	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5718274	5718274	5479	4	G	T	T	33	33	EVC2	T	3	3
REST	5978	broad.mit.edu	36	4	57472026	57472026	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57472026G>T	uc003hch.1	+	c.465G>T	c.(463-465)AAG>AAT	p.K155N	REST_uc003hci.1_Missense_Mutation_p.K155N|REST_uc003hcj.1_Missense_Mutation_p.K155N|REST_uc010ihf.1_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	155					transcription, DNA-dependent	cytoplasm|nucleus	transcription repressor activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	Glioma(25;0.08)|all_neural(26;0.181)													0.207965	89.378969	107.255502	47	179	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57472026	57472026	13704	4	G	T	T	33	33	REST	T	3	3
REST	5978	broad.mit.edu	36	4	57491416	57491416	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57491416G>T	uc003hch.1	+	c.1635G>T	c.(1633-1635)AAG>AAT	p.K545N	REST_uc003hci.1_Missense_Mutation_p.K545N|REST_uc010ihf.1_Missense_Mutation_p.K219N	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	545	Lys-rich.				transcription, DNA-dependent	cytoplasm|nucleus	transcription repressor activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	Glioma(25;0.08)|all_neural(26;0.181)													0.196429	19.286112	24.103486	11	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57491416	57491416	13704	4	G	T	T	33	33	REST	T	3	3
REST	5978	broad.mit.edu	36	4	57491729	57491729	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57491729G>A	uc003hch.1	+	c.1948G>A	c.(1948-1950)GAG>AAG	p.E650K	REST_uc003hci.1_Missense_Mutation_p.E650K|REST_uc010ihf.1_Missense_Mutation_p.E324K	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	650	Pro-rich.				transcription, DNA-dependent	cytoplasm|nucleus	transcription repressor activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	Glioma(25;0.08)|all_neural(26;0.181)													0.522388	95.516485	95.545349	35	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57491729	57491729	13704	4	G	A	A	37	37	REST	A	1	1
REST	5978	broad.mit.edu	36	4	57492650	57492650	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57492650G>T	uc003hch.1	+	c.2869G>T	c.(2869-2871)GAG>TAG	p.E957*	REST_uc003hci.1_Nonsense_Mutation_p.E957*|REST_uc010ihf.1_Nonsense_Mutation_p.E631*	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	957					transcription, DNA-dependent	cytoplasm|nucleus	transcription repressor activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	Glioma(25;0.08)|all_neural(26;0.181)													0.203704	40.88669	49.694141	22	86	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	57492650	57492650	13704	4	G	T	T	33	33	REST	T	5	3
C4orf14	84273	broad.mit.edu	36	4	57525374	57525374	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57525374G>T	uc003hck.1	-	c.1840C>A	c.(1840-1842)CTG>ATG	p.L614M		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	614							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)													0.208768	211.048986	248.665721	100	379	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57525374	57525374	2346	4	G	T	T	36	36	C4orf14	T	3	3
POLR2B	5431	broad.mit.edu	36	4	57571964	57571964	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57571964G>A	uc003hcl.1	+	c.1741G>A	c.(1741-1743)GAA>AAA	p.E581K	POLR2B_uc003hcm.1_Missense_Mutation_p.E74K	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	581					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)													0.446809	116.540014	116.770745	42	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57571964	57571964	12643	4	G	A	A	37	37	POLR2B	A	1	1
POLR2B	5431	broad.mit.edu	36	4	57583084	57583084	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57583084C>A	uc003hcl.1	+	c.2430C>A	c.(2428-2430)TTC>TTA	p.F810L	POLR2B_uc003hcm.1_Missense_Mutation_p.F303L	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	810					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)													0.318182	50.243888	52.187603	21	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57583084	57583084	12643	4	C	A	A	32	32	POLR2B	A	3	3
IGFBP7	3490	broad.mit.edu	36	4	57593348	57593348	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57593348C>T	uc003hcn.1	-	c.829_splice	c.e4+1	p.G277_splice		NM_001553	NP_001544			insulin-like growth factor binding protein 7						cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)	1	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.201299	58.428794	71.211049	31	123	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	57593348	57593348	7885	4	C	T	T	18	18	IGFBP7	T	5	2
PDE6B	5158	broad.mit.edu	36	4	609588	609588	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:609588C>T	uc003gap.1	+	c.173C>T	c.(172-174)GCG>GTG	p.A58V	PDE6B_uc003gao.2_Missense_Mutation_p.A58V	NM_000283	NP_000274	P35913	PDE6B_HUMAN	rod cGMP-phosphodiesterase beta-subunit isoform	58					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GBM(71;463 1194 9848 25922 46834)								0.644737	145.599105	147.010635	49	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	609588	609588	12067	4	C	T	T	27	27	PDE6B	T	1	1
JAKMIP1	152789	broad.mit.edu	36	4	6158115	6158115	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:6158115C>T	uc010idb.1	-	c.610G>A	c.(610-612)GAC>AAC	p.D204N	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.D204N|JAKMIP1_uc003giu.2_Missense_Mutation_p.D204N|JAKMIP1_uc003giv.2_Missense_Mutation_p.D204N|JAKMIP1_uc010ide.1_Missense_Mutation_p.D204N	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	204	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|ovary(1)|pancreas(1)	3														0.684211	74.851735	75.995557	26	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6158115	6158115	8244	4	C	T	T	31	31	JAKMIP1	T	1	1
LPHN3	23284	broad.mit.edu	36	4	62484352	62484352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:62484352C>T	uc010ihh.1	+	c.2209C>T	c.(2209-2211)CGA>TGA	p.R737*	LPHN3_uc003hcq.2_Nonsense_Mutation_p.R737*|LPHN3_uc003hct.1_Nonsense_Mutation_p.R130*	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	724	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.3125	27.338464	28.339929	10	22	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	62484352	62484352	9290	4	C	T	T	23	23	LPHN3	T	5	1
WFS1	7466	broad.mit.edu	36	4	6353419	6353419	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:6353419C>T	uc003gix.1	+	c.996C>T	c.(994-996)ATC>ATT	p.I332I	WFS1_uc003giy.1_Silent_p.I332I|WFS1_uc003giz.1_Silent_p.I150I	NM_006005	NP_005996	O76024	WFS1_HUMAN	wolframin	332	Helical; (Potential).				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein maturation by protein folding|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2														0.254386	132.641953	145.125807	58	170	CC		KEEP	---	---	---	---	capture		Colorectal(103;0.0512)	Silent	SNP	6353419	6353419	17934	4	C	T	T	31	31	WFS1	T	1	1
PDE6B	5158	broad.mit.edu	36	4	651650	651650	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:651650C>A	uc003gap.1	+	c.2358C>A	c.(2356-2358)TTC>TTA	p.F786L	PDE6B_uc003gao.2_Missense_Mutation_p.F786L	NM_000283	NP_000274	P35913	PDE6B_HUMAN	rod cGMP-phosphodiesterase beta-subunit isoform	786					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GBM(71;463 1194 9848 25922 46834)								0.245856	187.468248	208.787012	89	273	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	651650	651650	12067	4	C	A	A	32	32	PDE6B	A	3	3
EPHA5	2044	broad.mit.edu	36	4	65962663	65962663	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:65962663G>A	uc003hcy.1	-	c.1621C>T	c.(1621-1623)CGA>TGA	p.R541*	EPHA5_uc003hcx.1_Nonsense_Mutation_p.R472*|EPHA5_uc003hcz.1_Nonsense_Mutation_p.R541*|EPHA5_uc003hda.1_Nonsense_Mutation_p.R541*	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	541	Extracellular (Potential).|Fibronectin type-III 2.				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15									p.R541*(MEWO-Tumor)	537	TSP Lung(17;0.13)			0.478814	320.234171	320.327402	113	123	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	65962663	65962663	5363	4	G	A	A	37	37	EPHA5	A	5	1
EPHA5	2044	broad.mit.edu	36	4	65968824	65968824	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:65968824G>T	uc003hcy.1	-	c.1457C>A	c.(1456-1458)TCT>TAT	p.S486Y	EPHA5_uc003hcx.1_Missense_Mutation_p.S417Y|EPHA5_uc003hcz.1_Missense_Mutation_p.S486Y|EPHA5_uc003hda.1_Missense_Mutation_p.S486Y	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	486	Extracellular (Potential).|Fibronectin type-III 2.				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.208589	66.045691	78.878138	34	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65968824	65968824	5363	4	G	T	T	33	33	EPHA5	T	3	3
STAP1	26228	broad.mit.edu	36	4	68107156	68107156	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:68107156C>T	uc003hde.2	+	c.34C>T	c.(34-36)CGC>TGC	p.R12C	STAP1_uc003hdf.2_Missense_Mutation_p.R12C	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	12					cellular membrane fusion|intracellular protein transport	cytoplasm					0														0.151261	53.845086	81.582195	36	202	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68107156	68107156	15771	4	C	T	T	31	31	STAP1	T	1	1
UBA6	55236	broad.mit.edu	36	4	68244975	68244975	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:68244975G>A	uc003hdg.2	-	c.117C>T	c.(115-117)ATC>ATT	p.I39I	UBA6_uc003hdi.2_Silent_p.I39I|UBA6_uc003hdj.2_Silent_p.I39I	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	39					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0														0.230769	72.2966	81.800698	33	110	GG		KEEP	---	---	---	---	capture			Silent	SNP	68244975	68244975	17389	4	G	A	A	37	37	UBA6	A	1	1
TMPRSS11F	389208	broad.mit.edu	36	4	68620679	68620679	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:68620679T>C	uc003hdt.1	-	c.471A>G	c.(469-471)AAA>AAG	p.K157K	LOC550112_uc003hdl.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	157	SEA.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.572727	224.34828	224.857544	63	47	TT		KEEP	---	---	---	---	capture			Silent	SNP	68620679	68620679	16784	4	T	C	C	60	60	TMPRSS11F	C	4	4
TMPRSS11B	132724	broad.mit.edu	36	4	68784513	68784513	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:68784513T>C	uc003hdw.2	-	c.191A>G	c.(190-192)AAC>AGC	p.N64S		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	64	SEA.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.271186	47.578169	50.360967	16	43	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68784513	68784513	16780	4	T	C	C	60	60	TMPRSS11B	C	4	4
YTHDC1	91746	broad.mit.edu	36	4	68872467	68872467	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:68872467G>A	uc003hdx.1	-	c.1419C>T	c.(1417-1419)ATC>ATT	p.I473I	YTHDC1_uc003hdy.1_Silent_p.I455I	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	473	YTH.									ovary(1)	1														0.315254	239.1556	248.120141	93	202	GG		KEEP	---	---	---	---	capture			Silent	SNP	68872467	68872467	18079	4	G	A	A	37	37	YTHDC1	A	1	1
YTHDC1	91746	broad.mit.edu	36	4	68885457	68885457	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:68885457C>A	uc003hdx.1	-	c.766G>T	c.(766-768)GAC>TAC	p.D256Y	YTHDC1_uc003hdy.1_Missense_Mutation_p.D256Y	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	256	Glu-rich.									ovary(1)	1														0.231343	63.44458	72.316499	31	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68885457	68885457	18079	4	C	A	A	32	32	YTHDC1	A	3	3
KIAA0232	9778	broad.mit.edu	36	4	6924279	6924279	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:6924279C>A	uc003gjr.2	+	c.3879C>A	c.(3877-3879)TAC>TAA	p.Y1293*	KIAA0232_uc003gjq.2_Nonsense_Mutation_p.Y1293*	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	1293							ATP binding			ovary(2)	2														0.194805	57.650853	71.040422	30	124	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	6924279	6924279	8470	4	C	A	A	20	20	KIAA0232	A	5	3
UGT2B7	7364	broad.mit.edu	36	4	69996947	69996947	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:69996947G>T	uc003heg.2	+	c.120G>T	c.(118-120)AAG>AAT	p.K40N	UGT2B7_uc010ihq.1_Missense_Mutation_p.K40N	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family,	40					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.194444	88.204717	110.185284	49	203	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69996947	69996947	17520	4	G	T	T	33	33	UGT2B7	T	3	3
UGT2B7	7364	broad.mit.edu	36	4	70012859	70012859	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:70012859G>A	uc003heg.2	+	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	UGT2B7_uc010ihq.1_3'UTR	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family,	469					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.399361	338.100308	340.874819	125	188	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70012859	70012859	17520	4	G	A	A	38	38	UGT2B7	A	1	1
UGT2B11	10720	broad.mit.edu	36	4	70114516	70114516	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:70114516G>A	uc003heh.1	-	c.514C>T	c.(514-516)CTC>TTC	p.L172F		NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	172					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.726562	299.515048	305.429348	93	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70114516	70114516	17515	4	G	A	A	33	33	UGT2B11	A	2	2
TBC1D14	57533	broad.mit.edu	36	4	7046917	7046917	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7046917G>A	uc003gjs.2	+	c.949G>A	c.(949-951)GAG>AAG	p.E317K	TBC1D14_uc010idg.1_Missense_Mutation_p.E302K|TBC1D14_uc010idh.1_Missense_Mutation_p.E37K	NM_020773	NP_065824	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	317						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2														0.248031	147.194276	161.871424	63	191	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7046917	7046917	16125	4	G	A	A	37	37	TBC1D14	A	1	1
UGT2A1	10941	broad.mit.edu	36	4	70539379	70539379	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:70539379C>A	uc010ihs.1	-	c.545G>T	c.(544-546)AGA>ATA	p.R182I	UGT2A1_uc003hem.2_Intron|UGT2A1_uc010iht.1_Intron|UGT2A1_uc010ihu.1_Intron	NM_001105677	NP_001099147	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	181	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1														0.283784	49.04308	52.150712	21	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70539379	70539379	17511	4	C	A	A	32	32	UGT2A1	A	3	3
CCDC96	257236	broad.mit.edu	36	4	7093944	7093944	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7093944G>A	uc003gjv.1	-	c.1623C>T	c.(1621-1623)GGC>GGT	p.G541G	TADA2B_uc003gjw.2_5'Flank|TADA2B_uc010idi.1_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	541											0														0.32	97.849965	101.451752	40	85	GG		KEEP	---	---	---	---	capture			Silent	SNP	7093944	7093944	2999	4	G	A	A	38	38	CCDC96	A	1	1
CCDC96	257236	broad.mit.edu	36	4	7094272	7094272	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7094272A>C	uc003gjv.1	-	c.1295T>G	c.(1294-1296)CTT>CGT	p.L432R	TADA2B_uc003gjw.2_5'Flank|TADA2B_uc010idi.1_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	432	Potential.										0														0.309963	448.280023	465.729989	168	374	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7094272	7094272	2999	4	A	C	C	3	3	CCDC96	C	4	4
TADA2B	93624	broad.mit.edu	36	4	7106988	7106988	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7106988T>C	uc003gjw.2	+	c.569T>C	c.(568-570)GTC>GCC	p.V190A	TADA2B_uc010idi.1_Missense_Mutation_p.V115A	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0														0.258427	61.694063	66.393294	23	66	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7106988	7106988	16032	4	T	C	C	58	58	TADA2B	C	4	4
CSN3	1448	broad.mit.edu	36	4	71149609	71149609	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:71149609C>A	uc003hfe.2	+	c.393C>A	c.(391-393)ATC>ATA	p.I131I		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa	131						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.132231	14.216811	30.137277	16	105	CC		KEEP	---	---	---	---	capture			Silent	SNP	71149609	71149609	4090	4	C	A	A	30	30	CSN3	A	3	3
C4orf35	85438	broad.mit.edu	36	4	71235542	71235542	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:71235542A>G	uc003hff.1	+	c.197A>G	c.(196-198)AAC>AGC	p.N66S	C4orf35_uc010ihx.1_Missense_Mutation_p.N66S	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	66						flagellum	calcium ion binding				0		all_hematologic(202;0.196)												0.198795	80.887717	94.896796	33	133	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71235542	71235542	2360	4	A	G	G	2	2	C4orf35	G	4	4
ENAM	10117	broad.mit.edu	36	4	71726843	71726843	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:71726843C>T	uc003hfm.1	+	c.836C>T	c.(835-837)ACT>ATT	p.T279I		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin	279					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3														0.135338	24.753937	41.899787	18	115	CC		KEEP	---	---	---	---	capture	Lung(101;0.235)		Missense_Mutation	SNP	71726843	71726843	5305	4	C	T	T	20	20	ENAM	T	2	2
RUFY3	22902	broad.mit.edu	36	4	71867736	71867736	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:71867736G>T	uc003hfr.1	+	c.959G>T	c.(958-960)AGT>ATT	p.S320I	RUFY3_uc003hfp.2_Missense_Mutation_p.S256I|RUFY3_uc003hfq.1_Missense_Mutation_p.S320I	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 1	320	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)												0.276923	47.22006	50.132534	18	47	GG		KEEP	---	---	---	---	capture	Lung(101;0.235)		Missense_Mutation	SNP	71867736	71867736	14220	4	G	T	T	36	36	RUFY3	T	3	3
MOBKL1A	92597	broad.mit.edu	36	4	72043488	72043488	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:72043488G>T	uc003hfw.1	+	c.48G>T	c.(46-48)AAG>AAT	p.K16N	MOBKL1A_uc003hfv.1_Missense_Mutation_p.K16N	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	MOB1, Mps One Binder kinase activator-like 1A	16					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding				0		all_hematologic(202;0.21)												0.193548	73.404381	92.450609	42	175	GG		KEEP	---	---	---	---	capture	Lung(101;0.235)		Missense_Mutation	SNP	72043488	72043488	10073	4	G	T	T	33	33	MOBKL1A	T	3	3
MOBKL1A	92597	broad.mit.edu	36	4	72059770	72059770	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:72059770G>T	uc003hfw.1	+	c.312G>T	c.(310-312)AAG>AAT	p.K104N	MOBKL1A_uc003hfv.1_Missense_Mutation_p.K104N	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	MOB1, Mps One Binder kinase activator-like 1A	104					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding				0		all_hematologic(202;0.21)												0.276074	105.492327	112.85948	45	118	GG		KEEP	---	---	---	---	capture	Lung(101;0.235)		Missense_Mutation	SNP	72059770	72059770	10073	4	G	T	T	33	33	MOBKL1A	T	3	3
SLC4A4	8671	broad.mit.edu	36	4	72339820	72339820	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:72339820C>T	uc003hfy.1	+	c.93C>T	c.(91-93)ATC>ATT	p.I31I	SLC4A4_uc010iib.1_Silent_p.I31I|SLC4A4_uc003hfz.1_Silent_p.I31I|SLC4A4_uc010iic.1_Silent_p.I31I|SLC4A4_uc003hga.1_5'UTR	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	31	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)	4														0.459375	422.885813	423.345816	147	173	CC		KEEP	---	---	---	---	capture	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Silent	SNP	72339820	72339820	15153	4	C	T	T	31	31	SLC4A4	T	1	1
ADAMTS3	9508	broad.mit.edu	36	4	73368116	73368116	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:73368116G>T	uc003hgk.1	-	c.3219C>A	c.(3217-3219)ATC>ATA	p.I1073I		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1073					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2						NSCLC(168;1941 2048 2918 13048 43078)								0.334694	202.243023	208.183097	82	163	GG		KEEP	---	---	---	---	capture	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Silent	SNP	73368116	73368116	268	4	G	T	T	33	33	ADAMTS3	T	3	3
ADAMTS3	9508	broad.mit.edu	36	4	73424174	73424174	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:73424174G>A	uc003hgk.1	-	c.762C>T	c.(760-762)AAC>AAT	p.N254N		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	254					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2						NSCLC(168;1941 2048 2918 13048 43078)								0.486974	659.539619	659.614143	243	256	GG		KEEP	---	---	---	---	capture	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Silent	SNP	73424174	73424174	268	4	G	A	A	40	40	ADAMTS3	A	1	1
ADAMTS3	9508	broad.mit.edu	36	4	73633197	73633197	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:73633197A>G	uc003hgk.1	-	c.366T>C	c.(364-366)GAT>GAC	p.D122D		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	122					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2						NSCLC(168;1941 2048 2918 13048 43078)								0.44058	492.11251	493.178132	152	193	AA		KEEP	---	---	---	---	capture	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Silent	SNP	73633197	73633197	268	4	A	G	G	12	12	ADAMTS3	G	4	4
ADAMTS3	9508	broad.mit.edu	36	4	73633283	73633283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:73633283G>A	uc003hgk.1	-	c.280C>T	c.(280-282)CGA>TGA	p.R94*		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	94					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2						NSCLC(168;1941 2048 2918 13048 43078)								0.417989	214.07777	215.189911	79	110	GG		KEEP	---	---	---	---	capture	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Nonsense_Mutation	SNP	73633283	73633283	268	4	G	A	A	38	38	ADAMTS3	A	5	1
ANKRD17	26057	broad.mit.edu	36	4	74178761	74178761	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74178761T>C	uc003hgp.1	-	c.5226A>G	c.(5224-5226)GGA>GGG	p.G1742G	ANKRD17_uc003hgo.1_Silent_p.G1629G|ANKRD17_uc003hgq.1_Silent_p.G1491G|ANKRD17_uc003hgr.1_Silent_p.G1741G	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1742	KH.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(2)|lung(1)	8	Breast(15;0.000295)													0.326425	199.775499	204.924873	63	130	TT		KEEP	---	---	---	---	capture	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Silent	SNP	74178761	74178761	649	4	T	C	C	62	62	ANKRD17	C	4	4
ALB	213	broad.mit.edu	36	4	74489738	74489738	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74489738G>T	uc003hgs.2	+	c.121G>T	c.(121-123)GAA>TAA	p.E41*	ALB_uc003hgt.2_Nonsense_Mutation_p.E41*|ALB_uc003hgu.2_Intron|ALB_uc010iii.1_Nonsense_Mutation_p.E41*|ALB_uc003hgv.2_Intron|ALB_uc003hgw.2_Nonsense_Mutation_p.E41*	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	41	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)	3	Breast(15;0.00102)				Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)									0.14966	30.449223	47.760752	22	125	GG		KEEP	---	---	---	---	capture	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Nonsense_Mutation	SNP	74489738	74489738	489	4	G	T	T	33	33	ALB	T	5	3
ALB	213	broad.mit.edu	36	4	74498103	74498103	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74498103G>A	uc003hgs.2	+	c.946G>A	c.(946-948)GAA>AAA	p.E316K	ALB_uc003hgt.2_Missense_Mutation_p.E316K|ALB_uc003hgu.2_Missense_Mutation_p.E166K|ALB_uc010iii.1_Missense_Mutation_p.E201K|ALB_uc003hgv.2_5'UTR|ALB_uc003hgw.2_Missense_Mutation_p.E124K|ALB_uc010iij.1_Non-coding_Transcript|ALB_uc003hgx.2_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	316	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)	3	Breast(15;0.00102)				Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)									0.335484	133.42956	137.15264	52	103	GG		KEEP	---	---	---	---	capture	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Missense_Mutation	SNP	74498103	74498103	489	4	G	A	A	37	37	ALB	A	1	1
ALB	213	broad.mit.edu	36	4	74499741	74499741	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74499741C>T	uc003hgs.2	+	c.1184C>T	c.(1183-1185)GCC>GTC	p.A395V	ALB_uc003hgt.2_Missense_Mutation_p.A395V|ALB_uc003hgu.2_Missense_Mutation_p.A245V|ALB_uc010iii.1_Missense_Mutation_p.A280V|ALB_uc003hgv.2_Missense_Mutation_p.A74V|ALB_uc003hgw.2_Missense_Mutation_p.A203V|ALB_uc010iij.1_Non-coding_Transcript|ALB_uc003hgx.2_Missense_Mutation_p.A74V	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	395	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)	3	Breast(15;0.00102)				Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)									0.42328	231.394204	232.357729	80	109	CC		KEEP	---	---	---	---	capture	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Missense_Mutation	SNP	74499741	74499741	489	4	C	T	T	26	26	ALB	T	2	2
PCGF3	10336	broad.mit.edu	36	4	745103	745103	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:745103C>T	uc003gbe.1	+	c.499C>T	c.(499-501)CGC>TGC	p.R167C	PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc010ibh.1_Missense_Mutation_p.R167C|PCGF3_uc003gbg.1_Missense_Mutation_p.R133C|PCGF3_uc003gbh.1_Missense_Mutation_p.R133C	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding				0														0.305263	69.337402	72.55259	29	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	745103	745103	11996	4	C	T	T	27	27	PCGF3	T	1	1
AFP	174	broad.mit.edu	36	4	74528010	74528010	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74528010G>A	uc003hha.1	+	c.698G>A	c.(697-699)CGA>CAA	p.R233Q	AFP_uc003hgz.1_Missense_Mutation_p.R233Q	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	233	Albumin 2.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)													0.508929	161.8659	161.87364	57	55	GG		KEEP	---	---	---	---	capture	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Missense_Mutation	SNP	74528010	74528010	364	4	G	A	A	37	37	AFP	A	1	1
AFP	174	broad.mit.edu	36	4	74532211	74532211	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74532211G>T	uc003hha.1	+	c.1012G>T	c.(1012-1014)GAT>TAT	p.D338Y	AFP_uc003hgz.1_Missense_Mutation_p.D338Y	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	338	Albumin 2.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)													0.204545	34.294493	41.429435	18	70	GG		KEEP	---	---	---	---	capture	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Missense_Mutation	SNP	74532211	74532211	364	4	G	T	T	33	33	AFP	T	3	3
AFP	174	broad.mit.edu	36	4	74537185	74537185	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74537185G>A	uc003hha.1	+	c.1632G>A	c.(1630-1632)GCG>GCA	p.A544A	AFP_uc003hgz.1_Silent_p.A544A	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	544	Albumin 3.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)													0.148148	20.728	33.570557	16	92	GG		KEEP	---	---	---	---	capture	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Silent	SNP	74537185	74537185	364	4	G	A	A	38	38	AFP	A	1	1
AFM	173	broad.mit.edu	36	4	74584688	74584688	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74584688G>A	uc003hhb.1	+	c.1526G>A	c.(1525-1527)TGC>TAC	p.C509Y		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	509	Albumin 3.				transport					ovary(2)	2	Breast(15;0.00102)													0.184211	48.797792	63.03392	28	124	GG		KEEP	---	---	---	---	capture	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Missense_Mutation	SNP	74584688	74584688	362	4	G	A	A	46	46	AFM	A	2	2
RASSF6	166824	broad.mit.edu	36	4	74660874	74660874	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74660874G>A	uc003hhd.1	-	c.1052C>T	c.(1051-1053)GCG>GTG	p.A351V	RASSF6_uc003hhc.1_Missense_Mutation_p.A319V|RASSF6_uc010iik.1_Missense_Mutation_p.A285V|RASSF6_uc010iil.1_Missense_Mutation_p.A307V	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	351	SARAH.				apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)													0.228571	33.160636	37.894874	16	54	GG		KEEP	---	---	---	---	capture	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		Missense_Mutation	SNP	74660874	74660874	13551	4	G	A	A	38	38	RASSF6	A	1	1
RASSF6	166824	broad.mit.edu	36	4	74669773	74669773	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74669773G>T	uc003hhd.1	-	c.651C>A	c.(649-651)TTC>TTA	p.F217L	RASSF6_uc003hhc.1_Missense_Mutation_p.F185L|RASSF6_uc010iik.1_Missense_Mutation_p.F185L|RASSF6_uc010iil.1_Missense_Mutation_p.F173L	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	217					apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)													0.108225	15.188497	50.364336	25	206	GG		KEEP	---	---	---	---	capture	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		Missense_Mutation	SNP	74669773	74669773	13551	4	G	T	T	33	33	RASSF6	T	3	3
RASSF6	166824	broad.mit.edu	36	4	74672490	74672490	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74672490C>T	uc003hhd.1	-	c.409G>A	c.(409-411)GAT>AAT	p.D137N	RASSF6_uc003hhc.1_Missense_Mutation_p.D105N|RASSF6_uc010iik.1_Missense_Mutation_p.D105N|RASSF6_uc010iil.1_Missense_Mutation_p.D93N	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	137					apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)													0.23494	87.36665	98.018356	39	127	CC		KEEP	---	---	---	---	capture	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		Missense_Mutation	SNP	74672490	74672490	13551	4	C	T	T	31	31	RASSF6	T	1	1
CXCL6	6372	broad.mit.edu	36	4	74921783	74921783	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74921783G>T	uc003hhf.1	+	c.243_splice	c.e3-1	p.V81_splice		NM_002993	NP_002984			chemokine (C-X-C motif) ligand 6 (granulocyte						cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding				0	Breast(15;0.00102)													0.26087	90.652356	99.00653	42	119	GG		KEEP	---	---	---	---	capture	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		Splice_Site_SNP	SNP	74921783	74921783	4248	4	G	T	T	33	33	CXCL6	T	5	3
CXCL1	2919	broad.mit.edu	36	4	74954375	74954375	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74954375T>C	uc003hhh.1	+	c.224_splice	c.e2+2	p.I75_splice		NM_001511	NP_001502			chemokine (C-X-C motif) ligand 1						actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space	chemokine activity|enzyme activator activity|growth factor activity				0	Breast(15;0.00102)													0.340336	236.986938	242.308892	81	157	TT		KEEP	---	---	---	---	capture	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		Splice_Site_SNP	SNP	74954375	74954375	4237	4	T	C	C	57	57	CXCL1	C	5	4
PPBP	5473	broad.mit.edu	36	4	75072674	75072674	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:75072674C>T	uc003hhj.1	-	c.11G>A	c.(10-12)AGA>AAA	p.R4K		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	4					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00136)													0.59854	258.561183	259.721469	82	55	CC		KEEP	---	---	---	---	capture	all cancers(17;0.00273)|Lung(101;0.196)		Missense_Mutation	SNP	75072674	75072674	12733	4	C	T	T	32	32	PPBP	T	2	2
EPGN	255324	broad.mit.edu	36	4	75393679	75393679	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:75393679A>G	uc003hhw.1	+	c.49A>G	c.(49-51)ACA>GCA	p.T17A	EPGN_uc003hhy.1_Missense_Mutation_p.T17A|EPGN_uc003hhz.1_Missense_Mutation_p.T17A|EPGN_uc010iin.1_Intron|EPGN_uc003hhx.1_Non-coding_Transcript|EPGN_uc003hia.1_Missense_Mutation_p.T17A|EPGN_uc003hib.1_Missense_Mutation_p.T17A|EPGN_uc003hic.1_Missense_Mutation_p.T17A	NM_001013442	NP_001013460	Q6UW88	EPGN_HUMAN	epithelial mitogen	17					activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity				0														0.228188	176.105031	196.361044	68	230	AA		KEEP	---	---	---	---	capture	Lung(101;0.196)		Missense_Mutation	SNP	75393679	75393679	5357	4	A	G	G	10	10	EPGN	G	4	4
RCHY1	25898	broad.mit.edu	36	4	76653119	76653119	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:76653119G>A	uc003hik.1	-	c.261C>T	c.(259-261)TGC>TGT	p.C87C	RCHY1_uc003hij.1_Silent_p.C87C|RCHY1_uc003hil.1_Silent_p.C87C|RCHY1_uc010iip.1_Silent_p.C87C|RCHY1_uc010iiq.1_Non-coding_Transcript|RCHY1_uc010iir.1_Silent_p.C47C	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain	87	CTCHY-type.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1														0.185185	45.992104	58.543196	25	110	GG		KEEP	---	---	---	---	capture	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		Silent	SNP	76653119	76653119	13646	4	G	A	A	38	38	RCHY1	A	1	1
G3BP2	9908	broad.mit.edu	36	4	76801189	76801189	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:76801189C>T	uc003hir.1	-	c.385G>A	c.(385-387)GAT>AAT	p.D129N	G3BP2_uc003his.1_Missense_Mutation_p.D129N|G3BP2_uc003hit.1_Missense_Mutation_p.D129N	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	129	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3														0.208494	105.984915	126.38815	54	205	CC		KEEP	---	---	---	---	capture	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		Missense_Mutation	SNP	76801189	76801189	6393	4	C	T	T	29	29	G3BP2	T	2	2
G3BP2	9908	broad.mit.edu	36	4	76801923	76801923	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:76801923C>A	uc003hir.1	-	c.193G>T	c.(193-195)GTA>TTA	p.V65L	G3BP2_uc003his.1_Missense_Mutation_p.V65L|G3BP2_uc003hit.1_Missense_Mutation_p.V65L	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	65	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3														0.243243	161.034393	178.838098	72	224	CC		KEEP	---	---	---	---	capture	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		Missense_Mutation	SNP	76801923	76801923	6393	4	C	A	A	20	20	G3BP2	A	3	3
SORCS2	57537	broad.mit.edu	36	4	7690997	7690997	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7690997C>A	uc003gkb.2	+	c.691C>A	c.(691-693)CTA>ATA	p.L231I		NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2	231	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2														0.18018	35.341452	46.014514	20	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7690997	7690997	15431	4	C	A	A	24	24	SORCS2	A	3	3
USO1	8615	broad.mit.edu	36	4	76934049	76934049	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:76934049C>T	uc003hiu.1	+	c.1423C>T	c.(1423-1425)CTT>TTT	p.L475F	USO1_uc003hiv.1_Missense_Mutation_p.L310F|USO1_uc003hiw.1_Missense_Mutation_p.L310F	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	475	Globular head.|ARM 9.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3														0.278261	82.149691	87.237321	32	83	CC		KEEP	---	---	---	---	capture	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		Missense_Mutation	SNP	76934049	76934049	17601	4	C	T	T	20	20	USO1	T	2	2
PPEF2	5470	broad.mit.edu	36	4	77023178	77023178	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77023178C>A	uc003hix.1	-	c.858G>T	c.(856-858)GAG>GAT	p.E286D	PPEF2_uc003hiy.1_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.E286D	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	286	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						NSCLC(105;1359 1603 15961 44567 47947)								0.243421	77.18868	86.320337	37	115	CC		KEEP	---	---	---	---	capture	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		Missense_Mutation	SNP	77023178	77023178	12738	4	C	A	A	32	32	PPEF2	A	3	3
NUP54	53371	broad.mit.edu	36	4	77255608	77255608	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77255608C>T	uc003hjs.1	-	c.1459G>A	c.(1459-1461)GAT>AAT	p.D487N	NUP54_uc010ije.1_Missense_Mutation_p.D205N|NUP54_uc003hjt.1_Missense_Mutation_p.D271N	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	487					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														0.119403	20.399275	39.45629	16	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77255608	77255608	11172	4	C	T	T	32	32	NUP54	T	2	2
NUP54	53371	broad.mit.edu	36	4	77276522	77276522	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77276522C>T	uc003hjs.1	-	c.363G>A	c.(361-363)GCG>GCA	p.A121A	NUP54_uc010ije.1_Intron|NUP54_uc003hjt.1_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	121	9 X 2 AA repeats of F-G.				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														0.240437	98.319944	109.565889	44	139	CC		KEEP	---	---	---	---	capture			Silent	SNP	77276522	77276522	11172	4	C	T	T	31	31	NUP54	T	1	1
STBD1	8987	broad.mit.edu	36	4	77449422	77449422	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77449422T>G	uc003hka.1	+	c.322T>G	c.(322-324)TGT>GGT	p.C108G	STBD1_uc003hjy.1_3'UTR|STBD1_uc003hjz.1_3'UTR	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	108	Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1														0.256983	119.572531	129.152082	46	133	TT		KEEP	---	---	---	---	capture	Lung(101;0.196)		Missense_Mutation	SNP	77449422	77449422	15794	4	T	G	G	55	55	STBD1	G	4	4
STBD1	8987	broad.mit.edu	36	4	77449880	77449880	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77449880G>A	uc003hka.1	+	c.780G>A	c.(778-780)GGG>GGA	p.G260G	STBD1_uc003hjy.1_3'UTR|STBD1_uc003hjz.1_3'UTR	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	260	CBM20.|Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1														0.402439	91.954073	92.637736	33	49	GG		KEEP	---	---	---	---	capture	Lung(101;0.196)		Silent	SNP	77449880	77449880	15794	4	G	A	A	44	44	STBD1	A	2	2
SORCS2	57537	broad.mit.edu	36	4	7765388	7765388	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7765388G>A	uc003gkb.2	+	c.1897G>A	c.(1897-1899)GAT>AAT	p.D633N		NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2	633	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2														0.285714	82.493513	87.402257	34	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7765388	7765388	15431	4	G	A	A	37	37	SORCS2	A	1	1
SORCS2	57537	broad.mit.edu	36	4	7786957	7786957	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7786957C>T	uc003gkb.2	+	c.3267C>T	c.(3265-3267)ATC>ATT	p.I1089I		NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2	1089	Helical; (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2														0.5	11.09921	11.09921	4	4	CC		KEEP	---	---	---	---	capture			Silent	SNP	7786957	7786957	15431	4	C	T	T	31	31	SORCS2	T	1	1
SHROOM3	57619	broad.mit.edu	36	4	77871016	77871016	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77871016A>C	uc003hke.1	+	c.488A>C	c.(487-489)CAC>CCC	p.H163P	SHROOM3_uc003hkf.1_Missense_Mutation_p.H39P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	164					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			ovary(1)	1														0.477876	548.623861	548.767858	162	177	AA		KEEP	---	---	---	---	capture	Lung(101;0.0903)		Missense_Mutation	SNP	77871016	77871016	14790	4	A	C	C	6	6	SHROOM3	C	4	4
SHROOM3	57619	broad.mit.edu	36	4	77879751	77879751	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77879751C>A	uc003hke.1	+	c.1398C>A	c.(1396-1398)ATC>ATA	p.I466I	SHROOM3_uc003hkf.1_Silent_p.I342I|SHROOM3_uc003hkg.1_Silent_p.I245I	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	467					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			ovary(1)	1														0.20362	81.327509	99.378662	45	176	CC		KEEP	---	---	---	---	capture	Lung(101;0.0903)		Silent	SNP	77879751	77879751	14790	4	C	A	A	32	32	SHROOM3	A	3	3
SHROOM3	57619	broad.mit.edu	36	4	77880321	77880321	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77880321G>T	uc003hke.1	+	c.1968G>T	c.(1966-1968)AAG>AAT	p.K656N	SHROOM3_uc003hkf.1_Missense_Mutation_p.K532N|SHROOM3_uc003hkg.1_Missense_Mutation_p.K435N	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	657					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			ovary(1)	1														0.272727	129.87559	140.140035	60	160	GG		KEEP	---	---	---	---	capture	Lung(101;0.0903)		Missense_Mutation	SNP	77880321	77880321	14790	4	G	T	T	33	33	SHROOM3	T	3	3
SHROOM3	57619	broad.mit.edu	36	4	77899742	77899742	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77899742T>C	uc003hke.1	+	c.5216T>C	c.(5215-5217)GTG>GCG	p.V1739A	SHROOM3_uc003hkg.1_Missense_Mutation_p.V1518A	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1740	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			ovary(1)	1														0.271523	106.313324	113.418655	41	110	TT		KEEP	---	---	---	---	capture	Lung(101;0.0903)		Missense_Mutation	SNP	77899742	77899742	14790	4	T	C	C	59	59	SHROOM3	C	4	4
SHROOM3	57619	broad.mit.edu	36	4	77911008	77911008	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77911008C>T	uc003hke.1	+	c.5552C>T	c.(5551-5553)TCG>TTG	p.S1851L	SHROOM3_uc003hkg.1_Missense_Mutation_p.S1630L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1852	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			ovary(1)	1														0.278761	148.219667	158.177861	63	163	CC		KEEP	---	---	---	---	capture	Lung(101;0.0903)		Missense_Mutation	SNP	77911008	77911008	14790	4	C	T	T	31	31	SHROOM3	T	1	1
SEPT11	55752	broad.mit.edu	36	4	78145870	78145870	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:78145870C>T	uc003hkj.1	+	c.235C>T	c.(235-237)CGG>TGG	p.R79W	SEPT11_uc010ijh.1_Missense_Mutation_p.R71W	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	79					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0														0.37788	217.88731	220.729808	82	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78145870	78145870	14547	4	C	T	T	31	31	SEPT11	T	1	1
SEPT11	55752	broad.mit.edu	36	4	78171058	78171058	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:78171058C>T	uc003hkj.1	+	c.1185C>T	c.(1183-1185)TTC>TTT	p.F395F	SEPT11_uc010ijh.1_Silent_p.F387F	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	395	Potential.				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0														0.336283	99.2119	101.892874	38	75	CC		KEEP	---	---	---	---	capture			Silent	SNP	78171058	78171058	14547	4	C	T	T	30	30	SEPT11	T	2	2
CCNI	10983	broad.mit.edu	36	4	78196245	78196245	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:78196245C>A	uc003hkm.1	-	c.353G>T	c.(352-354)AGT>ATT	p.S118I		NM_006835	NP_006826	Q14094	CCNI_HUMAN	cyclin I	118					spermatogenesis					ovary(1)	1														0.201005	81.378887	97.925983	40	159	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78196245	78196245	3053	4	C	A	A	20	20	CCNI	A	3	3
AFAP1	60312	broad.mit.edu	36	4	7821511	7821511	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7821511C>T	uc003gkf.1	-	c.2126G>A	c.(2125-2127)GGC>GAC	p.G709D	AFAP1_uc003gkg.1_Missense_Mutation_p.G709D|AFAP1-AS_uc003gkd.2_Intron|AFAP1_uc003gke.1_Missense_Mutation_p.G392D	NM_021638	NP_940997	Q8N556	AFAP1_HUMAN	Actin filament-associated protein 1 (110 kDa actin filament-associated protein) (AFAP-110).	709						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0														0.314685	96.120425	100.493807	45	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7821511	7821511	354	4	C	T	T	26	26	AFAP1	T	2	2
AFAP1	60312	broad.mit.edu	36	4	7853247	7853247	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7853247C>T	uc003gkf.1	-	c.1088G>A	c.(1087-1089)CGA>CAA	p.R363Q	AFAP1_uc003gkg.1_Missense_Mutation_p.R363Q|AFAP1_uc003gke.1_5'Flank	NM_021638	NP_940997	Q8N556	AFAP1_HUMAN	Actin filament-associated protein 1 (110 kDa actin filament-associated protein) (AFAP-110).	363	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0														0.513889	105.880886	105.893412	37	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7853247	7853247	354	4	C	T	T	31	31	AFAP1	T	1	1
CXCL13	10563	broad.mit.edu	36	4	78751168	78751168	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:78751168G>T	uc003hkr.1	+	c.281G>T	c.(280-282)AGA>ATA	p.R94I		NM_006419	NP_006410	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13 (B-cell	94					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity				0														0.09854	9.099385	53.314189	27	247	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78751168	78751168	4241	4	G	T	T	33	33	CXCL13	T	3	3
FRAS1	80144	broad.mit.edu	36	4	79581356	79581356	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79581356G>A	uc003hkx.2	+	c.5543G>A	c.(5542-5544)AGA>AAA	p.R1848K	FRAS1_uc003hkw.2_Missense_Mutation_p.R1849K|FRAS1_uc010ijj.1_Missense_Mutation_p.R269K|FRAS1_uc003hlb.1_Missense_Mutation_p.R70K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1848	CSPG 7.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.112245	10.548559	25.108333	11	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79581356	79581356	6288	4	G	A	A	33	33	FRAS1	A	2	2
FRAS1	80144	broad.mit.edu	36	4	79622572	79622572	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79622572A>G	uc003hkx.2	+	c.8608A>G	c.(8608-8610)ACC>GCC	p.T2870A	FRAS1_uc003hlb.1_Missense_Mutation_p.T1092A	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2866	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.235052	264.719715	295.864881	114	371	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79622572	79622572	6288	4	A	G	G	6	6	FRAS1	G	4	4
FRAS1	80144	broad.mit.edu	36	4	79629132	79629132	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79629132C>T	uc003hkx.2	+	c.8829C>T	c.(8827-8829)AGC>AGT	p.S2943S	FRAS1_uc003hlb.1_Silent_p.S1165S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2939	Calx-beta 4.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.459459	90.228993	90.33593	34	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	79629132	79629132	6288	4	C	T	T	27	27	FRAS1	T	1	1
FRAS1	80144	broad.mit.edu	36	4	79637000	79637000	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79637000C>A	uc003hkx.2	+	c.8973C>A	c.(8971-8973)GTC>GTA	p.V2991V	FRAS1_uc003hlb.1_Silent_p.V1213V|FRAS1_uc003hlc.1_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2987	Calx-beta 4.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.215054	155.468698	183.384234	80	292	CC		KEEP	---	---	---	---	capture			Silent	SNP	79637000	79637000	6288	4	C	A	A	32	32	FRAS1	A	3	3
FRAS1	80144	broad.mit.edu	36	4	79637086	79637086	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79637086C>T	uc003hkx.2	+	c.9059C>T	c.(9058-9060)GCT>GTT	p.A3020V	FRAS1_uc003hlb.1_Missense_Mutation_p.A1242V|FRAS1_uc003hlc.1_Missense_Mutation_p.A23V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3016	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.565957	418.990422	419.879254	133	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79637086	79637086	6288	4	C	T	T	28	28	FRAS1	T	2	2
FRAS1	80144	broad.mit.edu	36	4	79677181	79677181	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79677181C>A	uc003hkx.2	+	c.11098C>A	c.(11098-11100)CTT>ATT	p.L3700I	FRAS1_uc003hlb.1_Missense_Mutation_p.L1922I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3696	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.353448	216.065252	220.465395	82	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79677181	79677181	6288	4	C	A	A	24	24	FRAS1	A	3	3
FRAS1	80144	broad.mit.edu	36	4	79679476	79679476	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79679476G>A	uc003hkx.2	+	c.11300G>A	c.(11299-11301)CGC>CAC	p.R3767H	FRAS1_uc003hlb.1_Missense_Mutation_p.R1989H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3763	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.217647	78.021523	90.491341	37	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79679476	79679476	6288	4	G	A	A	38	38	FRAS1	A	1	1
BMP2K	55589	broad.mit.edu	36	4	79991217	79991217	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79991217A>T	uc003hlk.1	+	c.866A>T	c.(865-867)AAC>ATC	p.N289I	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.1_Missense_Mutation_p.N289I	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	289	Protein kinase.				protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1										318				0.189655	45.486529	55.932817	22	94	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79991217	79991217	1485	4	A	T	T	2	2	BMP2K	T	4	4
BMP2K	55589	broad.mit.edu	36	4	80011203	80011203	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:80011203C>A	uc003hlk.1	+	c.1474C>A	c.(1474-1476)CAC>AAC	p.H492N	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.1_Missense_Mutation_p.H492N|BMP2K_uc003hll.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	492	Gln/His-rich.				protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1										318				0.60274	125.694546	126.367438	44	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80011203	80011203	1485	4	C	A	A	21	21	BMP2K	A	3	3
BMP2K	55589	broad.mit.edu	36	4	80050903	80050903	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:80050903A>C	uc003hlk.1	+	c.2178A>C	c.(2176-2178)AAA>AAC	p.K726N	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	726					protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1										318				0.130435	13.326909	22.501863	9	60	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80050903	80050903	1485	4	A	C	C	1	1	BMP2K	C	4	4
PAQR3	152559	broad.mit.edu	36	4	80075407	80075407	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:80075407G>T	uc003hlp.1	-	c.240C>A	c.(238-240)TTC>TTA	p.F80L	PAQR3_uc003hlm.2_Non-coding_Transcript|PAQR3_uc003hln.2_Intron|PAQR3_uc003hlq.1_Intron	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	80	Helical; (Potential).					Golgi membrane|integral to membrane	receptor activity				0										9				0.255952	93.639557	102.721259	43	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80075407	80075407	11853	4	G	T	T	33	33	PAQR3	T	3	3
NAA11	84779	broad.mit.edu	36	4	80465809	80465809	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:80465809G>A	uc003hlt.2	-	c.247C>T	c.(247-249)CGC>TGC	p.R83C		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	ARD1 homolog B protein	83	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2														0.300654	109.085164	114.520791	46	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80465809	80465809	10512	4	G	A	A	38	38	NAA11	A	1	1
BMP3	651	broad.mit.edu	36	4	82193698	82193698	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:82193698C>A	uc003hmg.2	+	c.1403C>A	c.(1402-1404)TCT>TAT	p.S468Y		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	468					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														0.345992	208.755172	213.728911	82	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82193698	82193698	1486	4	C	A	A	32	32	BMP3	A	3	3
RASGEF1B	153020	broad.mit.edu	36	4	82599614	82599614	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:82599614C>A	uc003hmi.1	-	c.73G>T	c.(73-75)GAG>TAG	p.E25*	RASGEF1B_uc003hmj.1_Nonsense_Mutation_p.E25*|RASGEF1B_uc010ijq.1_Nonsense_Mutation_p.E25*|RASGEF1B_uc003hmk.2_Nonsense_Mutation_p.E25*	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	25					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0														0.378109	193.127567	195.755967	76	125	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	82599614	82599614	13531	4	C	A	A	32	32	RASGEF1B	A	5	3
SH3TC1	54436	broad.mit.edu	36	4	8286003	8286003	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:8286003G>A	uc003gkv.2	+	c.3145G>A	c.(3145-3147)GCA>ACA	p.A1049T	SH3TC1_uc003gkw.2_Missense_Mutation_p.A973T|SH3TC1_uc003gkx.2_Non-coding_Transcript|SH3TC1_uc003gky.1_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1049	TPR 7.						binding			large_intestine(2)|pancreas(1)	3						NSCLC(145;2298 2623 35616 37297)								0.34375	55.637994	57.014565	22	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8286003	8286003	14753	4	G	A	A	38	38	SH3TC1	A	1	1
ENOPH1	58478	broad.mit.edu	36	4	83588117	83588117	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:83588117C>T	uc003hmv.1	+	c.105C>T	c.(103-105)ATC>ATT	p.I35I	ENOPH1_uc003hmw.1_5'UTR|ENOPH1_uc003hmx.1_Non-coding_Transcript	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	35					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	acireductone synthase activity|metal ion binding|phosphoglycolate phosphatase activity				0														0.567164	113.650619	113.912804	38	29	CC		KEEP	---	---	---	---	capture			Silent	SNP	83588117	83588117	5317	4	C	T	T	31	31	ENOPH1	T	1	1
SCD5	79966	broad.mit.edu	36	4	83776985	83776985	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:83776985G>A	uc003hna.2	-	c.585C>T	c.(583-585)TCC>TCT	p.S195S		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5 isoform a	195	Helical; (Potential).				fatty acid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			ovary(1)	1		Colorectal(4;0.0323)|Hepatocellular(203;0.115)								68				0.460317	88.559155	88.646373	29	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	83776985	83776985	14368	4	G	A	A	39	39	SCD5	A	1	1
LIN54	132660	broad.mit.edu	36	4	84078645	84078645	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84078645A>G	uc003hnx.2	-	c.1477T>C	c.(1477-1479)TCT>CCT	p.S493P	LIN54_uc003hnz.2_Missense_Mutation_p.S272P|LIN54_uc003hny.2_Missense_Mutation_p.S92P|LIN54_uc010ijt.1_Missense_Mutation_p.S404P|LIN54_uc010iju.1_Missense_Mutation_p.S92P|LIN54_uc010ijv.1_Missense_Mutation_p.S272P	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	493					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)												0.132979	44.24169	68.832097	25	163	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84078645	84078645	9136	4	A	G	G	11	11	LIN54	G	4	4
LIN54	132660	broad.mit.edu	36	4	84124721	84124721	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84124721T>G	uc003hnx.2	-	c.301A>C	c.(301-303)AAA>CAA	p.K101Q	LIN54_uc003hnz.2_Intron|LIN54_uc003hny.2_Intron|LIN54_uc010ijt.1_Missense_Mutation_p.K101Q|LIN54_uc010iju.1_5'UTR|LIN54_uc010ijv.1_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	101					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)												0.520833	684.426446	684.572166	200	184	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84124721	84124721	9136	4	T	G	G	64	64	LIN54	G	4	4
COPS4	51138	broad.mit.edu	36	4	84197155	84197155	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84197155T>C	uc010ijw.1	+	c.463T>C	c.(463-465)TAT>CAT	p.Y155H	COPS4_uc003hoa.1_Missense_Mutation_p.Y155H|COPS4_uc003hob.1_Missense_Mutation_p.Y155H|COPS4_uc010ijx.1_Missense_Mutation_p.Y155H	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	155						cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)												0.341709	215.568363	219.96065	68	131	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84197155	84197155	3873	4	T	C	C	49	49	COPS4	C	4	4
PLAC8	51316	broad.mit.edu	36	4	84234875	84234875	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84234875G>A	uc003hoc.1	-	c.337C>T	c.(337-339)CGT>TGT	p.R113C	PLAC8_uc010ijy.1_Non-coding_Transcript|PLAC8_uc010ijz.1_Non-coding_Transcript|PLAC8_uc003hod.1_Missense_Mutation_p.R113C|PLAC8_uc003hoe.1_Missense_Mutation_p.R113C	NM_016619	NP_057703	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	113										ovary(1)	1		Hepatocellular(203;0.114)												0.241758	49.503135	55.040844	22	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84234875	84234875	12441	4	G	A	A	38	38	PLAC8	A	1	1
HELQ	113510	broad.mit.edu	36	4	84589058	84589058	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84589058T>G	uc003hom.1	-	c.1093A>C	c.(1093-1095)AAA>CAA	p.K365Q	HELQ_uc010ikb.1_Missense_Mutation_p.K365Q|HELQ_uc003hol.2_Non-coding_Transcript|HELQ_uc010ikc.1_Non-coding_Transcript|HELQ_uc003hon.1_Missense_Mutation_p.K259Q	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	365	ATP (By similarity).|Helicase ATP-binding.			K->M: Abolishes ATPase and DNA helicase activity.			ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)	2														0.4	180.897086	182.113484	56	84	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84589058	84589058	7330	4	T	G	G	64	64	HELQ	G	4	4
HELQ	113510	broad.mit.edu	36	4	84593590	84593590	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84593590G>A	uc003hom.1	-	c.830C>T	c.(829-831)GCG>GTG	p.A277V	HELQ_uc010ikb.1_Missense_Mutation_p.A277V|HELQ_uc003hol.2_Non-coding_Transcript|HELQ_uc010ikc.1_Non-coding_Transcript|HELQ_uc003hon.1_Missense_Mutation_p.A171V|HELQ_uc003hoo.1_Missense_Mutation_p.A240V|HELQ_uc003hop.1_Missense_Mutation_p.A171V|HELQ_uc003hoq.1_Missense_Mutation_p.A277V|MRPS18C_uc003hor.2_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	277							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)	2														0.483791	548.500598	548.593037	194	207	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84593590	84593590	7330	4	G	A	A	38	38	HELQ	A	1	1
AGPAT9	84803	broad.mit.edu	36	4	84676919	84676919	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84676919G>T	uc003how.1	+	c.120G>T	c.(118-120)AAG>AAT	p.K40N	AGPAT9_uc003hox.1_Missense_Mutation_p.K40N|AGPAT9_uc003hoy.1_Missense_Mutation_p.K40N	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	lysophosphatidic acid acyltransferase theta	40					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity				0		Hepatocellular(203;0.114)												0.353659	70.638981	72.192159	29	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84676919	84676919	395	4	G	T	T	33	33	AGPAT9	T	3	3
ACOX3	8310	broad.mit.edu	36	4	8468618	8468618	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:8468618G>A	uc010idk.1	-	c.153C>T	c.(151-153)ATC>ATT	p.I51I	ACOX3_uc003glc.2_Silent_p.I51I|ACOX3_uc003gld.2_Silent_p.I51I|ACOX3_uc003gle.1_5'UTR	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3, pristanoyl isoform a	51					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1														0.161905	28.904377	40.324928	17	88	GG		KEEP	---	---	---	---	capture			Silent	SNP	8468618	8468618	161	4	G	A	A	33	33	ACOX3	A	2	2
AGPAT9	84803	broad.mit.edu	36	4	84738295	84738295	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84738295G>A	uc003how.1	+	c.1064G>A	c.(1063-1065)CGA>CAA	p.R355Q	AGPAT9_uc003hox.1_Missense_Mutation_p.R355Q|AGPAT9_uc003hoy.1_Missense_Mutation_p.R355Q	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	lysophosphatidic acid acyltransferase theta	355					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity				0		Hepatocellular(203;0.114)												0.555024	339.412271	339.964682	116	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84738295	84738295	395	4	G	A	A	37	37	AGPAT9	A	1	1
GAK	2580	broad.mit.edu	36	4	851143	851143	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:851143C>T	uc003gbm.2	-	c.2473G>A	c.(2473-2475)GAG>AAG	p.E825K	GAK_uc010ibi.1_Missense_Mutation_p.E6K|GAK_uc010ibj.1_Non-coding_Transcript|GAK_uc003gbl.2_Missense_Mutation_p.E689K|GAK_uc003gbn.2_Missense_Mutation_p.E746K|GAK_uc010ibk.1_Missense_Mutation_p.E719K	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	825					cell cycle|protein phosphorylation	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)	3										679				0.334694	209.879728	215.801655	82	163	CC		KEEP	---	---	---	---	capture		Colorectal(103;0.219)	Missense_Mutation	SNP	851143	851143	6459	4	C	T	T	31	31	GAK	T	1	1
C4orf23	152992	broad.mit.edu	36	4	8523754	8523754	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:8523754G>T	uc003glg.1	+	c.1284G>T	c.(1282-1284)GAG>GAT	p.E428D	C4orf23_uc003glh.1_Missense_Mutation_p.E265D|C4orf23_uc003gli.1_5'Flank	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	hypothetical protein LOC152992 isoform 2	657					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding				0														0.551601	421.988757	422.633716	155	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8523754	8523754	2351	4	G	T	T	33	33	C4orf23	T	3	3
NKX6-1	4825	broad.mit.edu	36	4	85638353	85638353	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:85638353C>T	uc003hpa.1	-	c.53G>A	c.(52-54)AGC>AAC	p.S18N		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	18					detection of glucose|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus	transcription regulator activity				0		Hepatocellular(203;0.114)												0.625	58.00132	58.439153	20	12	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	Missense_Mutation	SNP	85638353	85638353	10860	4	C	T	T	28	28	NKX6-1	T	2	2
WDFY3	23001	broad.mit.edu	36	4	85828283	85828283	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:85828283G>A	uc003hpd.1	-	c.9523C>T	c.(9523-9525)CTT>TTT	p.L3175F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3175	WD 3.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)												0.470149	375.415472	375.624291	126	142	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	Missense_Mutation	SNP	85828283	85828283	17842	4	G	A	A	33	33	WDFY3	A	2	2
WDFY3	23001	broad.mit.edu	36	4	85861704	85861704	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:85861704C>T	uc003hpd.1	-	c.7487G>A	c.(7486-7488)GGA>GAA	p.G2496E	WDFY3_uc003hpe.1_Missense_Mutation_p.G107E	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2496						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)												0.282178	141.805604	150.415224	57	145	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	Missense_Mutation	SNP	85861704	85861704	17842	4	C	T	T	30	30	WDFY3	T	2	2
WDFY3	23001	broad.mit.edu	36	4	85875258	85875258	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:85875258G>A	uc003hpd.1	-	c.6955C>T	c.(6955-6957)CGT>TGT	p.R2319C	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2319						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)												0.396694	133.669881	134.801087	48	73	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	Missense_Mutation	SNP	85875258	85875258	17842	4	G	A	A	37	37	WDFY3	A	1	1
WDFY3	23001	broad.mit.edu	36	4	85915091	85915091	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:85915091G>A	uc003hpd.1	-	c.4660C>T	c.(4660-4662)CGA>TGA	p.R1554*		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1554						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)												0.551181	416.007201	416.58515	140	114	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	Nonsense_Mutation	SNP	85915091	85915091	17842	4	G	A	A	37	37	WDFY3	A	5	1
WDFY3	23001	broad.mit.edu	36	4	85934800	85934800	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:85934800C>T	uc003hpd.1	-	c.3383G>A	c.(3382-3384)CGA>CAA	p.R1128Q		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1128						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)												0.100402	12.598964	52.304606	25	224	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	Missense_Mutation	SNP	85934800	85934800	17842	4	C	T	T	31	31	WDFY3	T	1	1
GPR78	27201	broad.mit.edu	36	4	8635182	8635182	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:8635182G>T	uc003glk.1	+	c.693G>T	c.(691-693)CAG>CAT	p.Q231H	CPZ_uc003gll.1_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	231	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6														0.317073	121.412854	126.308979	52	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8635182	8635182	6985	4	G	T	T	34	34	GPR78	T	3	3
CPZ	8532	broad.mit.edu	36	4	8656719	8656719	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:8656719G>A	uc003glm.1	+	c.613G>A	c.(613-615)GCC>ACC	p.A205T	CPZ_uc003gll.1_Non-coding_Transcript|CPZ_uc003glo.1_Missense_Mutation_p.A194T|CPZ_uc003gln.1_Missense_Mutation_p.A68T|CPZ_uc003glp.1_Non-coding_Transcript	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	205					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.551724	41.488979	41.555446	16	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8656719	8656719	3978	4	G	A	A	38	38	CPZ	A	1	1
CPZ	8532	broad.mit.edu	36	4	8659370	8659370	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:8659370G>A	uc003glm.1	+	c.913G>A	c.(913-915)GGC>AGC	p.G305S	CPZ_uc003gll.1_Non-coding_Transcript|CPZ_uc003glo.1_Missense_Mutation_p.G294S|CPZ_uc003gln.1_Missense_Mutation_p.G168S|CPZ_uc003glp.1_Non-coding_Transcript	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	305					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.25	90.006169	98.414223	37	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8659370	8659370	3978	4	G	A	A	39	39	CPZ	A	1	1
ARHGAP24	83478	broad.mit.edu	36	4	87112317	87112317	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:87112317C>T	uc003hpk.1	+	c.704C>T	c.(703-705)GCC>GTC	p.A235V	ARHGAP24_uc003hpj.2_Missense_Mutation_p.A235V|ARHGAP24_uc003hpl.1_Missense_Mutation_p.A140V|ARHGAP24_uc010ikf.1_Missense_Mutation_p.A150V|ARHGAP24_uc003hpm.1_Missense_Mutation_p.A142V	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	235	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)												0.20442	77.88905	92.553446	37	144	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	Missense_Mutation	SNP	87112317	87112317	885	4	C	T	T	26	26	ARHGAP24	T	2	2
PTPN13	5783	broad.mit.edu	36	4	87841790	87841790	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:87841790C>T	uc003hpy.1	+	c.1007C>T	c.(1006-1008)ACT>ATT	p.T336I	PTPN13_uc003hpz.1_Missense_Mutation_p.T336I|PTPN13_uc003hqa.1_Missense_Mutation_p.T336I|PTPN13_uc003hqb.1_Missense_Mutation_p.T336I	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	336						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)												0.278689	126.339186	134.406927	51	132	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	Missense_Mutation	SNP	87841790	87841790	13237	4	C	T	T	20	20	PTPN13	T	2	2
PTPN13	5783	broad.mit.edu	36	4	87857247	87857247	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:87857247C>A	uc003hpy.1	+	c.1338C>A	c.(1336-1338)CTC>CTA	p.L446L	PTPN13_uc003hpz.1_Silent_p.L446L|PTPN13_uc003hqa.1_Silent_p.L446L|PTPN13_uc003hqb.1_Silent_p.L446L	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	446						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)												0.403846	54.803607	55.211291	21	31	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	Silent	SNP	87857247	87857247	13237	4	C	A	A	30	30	PTPN13	A	3	3
PTPN13	5783	broad.mit.edu	36	4	87874936	87874936	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:87874936T>C	uc003hpy.1	+	c.2035T>C	c.(2035-2037)TAT>CAT	p.Y679H	PTPN13_uc003hpz.1_Missense_Mutation_p.Y679H|PTPN13_uc003hqa.1_Missense_Mutation_p.Y679H|PTPN13_uc003hqb.1_Missense_Mutation_p.Y679H	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	679	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)												0.559322	344.457279	345.002256	99	78	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	Missense_Mutation	SNP	87874936	87874936	13237	4	T	C	C	57	57	PTPN13	C	4	4
PTPN13	5783	broad.mit.edu	36	4	87913032	87913032	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:87913032C>T	uc003hpy.1	+	c.5261C>T	c.(5260-5262)TCG>TTG	p.S1754L	PTPN13_uc003hpz.1_Missense_Mutation_p.S1749L|PTPN13_uc003hqa.1_Missense_Mutation_p.S1730L|PTPN13_uc003hqb.1_Missense_Mutation_p.S1558L|PTPN13_uc003hqc.1_Missense_Mutation_p.S115L	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1749	Poly-Ser.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)												0.153543	60.066653	89.22555	39	215	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	Missense_Mutation	SNP	87913032	87913032	13237	4	C	T	T	31	31	PTPN13	T	1	1
DMP1	1758	broad.mit.edu	36	4	88796717	88796717	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:88796717C>A	uc003hqv.1	+	c.49C>A	c.(49-51)CTC>ATC	p.L17I	DMP1_uc003hqw.1_Missense_Mutation_p.L17I	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	17					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)												0.243542	142.48999	158.758938	66	205	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	Missense_Mutation	SNP	88796717	88796717	4763	4	C	A	A	32	32	DMP1	A	3	3
DMP1	1758	broad.mit.edu	36	4	88803117	88803117	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:88803117G>A	uc003hqv.1	+	c.1163G>A	c.(1162-1164)AGC>AAC	p.S388N	DMP1_uc003hqw.1_Missense_Mutation_p.S372N	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	388					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)												0.197222	134.903574	165.669831	71	289	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	Missense_Mutation	SNP	88803117	88803117	4763	4	G	A	A	34	34	DMP1	A	2	2
MEPE	56955	broad.mit.edu	36	4	88978822	88978822	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:88978822G>T	uc003hqy.1	+	c.69G>T	c.(67-69)CAG>CAT	p.Q23H	MEPE_uc010ikn.1_5'UTR	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	23					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)	2		Hepatocellular(203;0.114)												0.238938	58.659907	65.699842	27	86	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	Missense_Mutation	SNP	88978822	88978822	9867	4	G	T	T	33	33	MEPE	T	3	3
SPP1	6696	broad.mit.edu	36	4	89121699	89121699	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89121699G>A	uc003hra.1	+	c.265G>A	c.(265-267)GAT>AAT	p.D89N	SPP1_uc003hrb.1_Missense_Mutation_p.D62N|SPP1_uc003hrc.1_Missense_Mutation_p.D75N|SPP1_uc003hrd.1_Missense_Mutation_p.D48N	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	89					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)								228				0.25641	243.012255	264.00016	100	290	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	Missense_Mutation	SNP	89121699	89121699	15599	4	G	A	A	41	41	SPP1	A	2	2
PKD2	5311	broad.mit.edu	36	4	89202169	89202169	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89202169C>A	uc003hre.1	+	c.2107C>A	c.(2107-2109)CTT>ATT	p.L703I		NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	703	Cytoplasmic (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity				0		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)												0.2375	81.359115	91.442648	38	122	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	Missense_Mutation	SNP	89202169	89202169	12391	4	C	A	A	32	32	PKD2	A	3	3
PKD2	5311	broad.mit.edu	36	4	89215823	89215823	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89215823G>A	uc003hre.1	+	c.2860G>A	c.(2860-2862)GGC>AGC	p.G954S		NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	954	C-terminal coiled coil domain.|Cytoplasmic (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity				0		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)												0.215488	156.166204	178.332335	64	233	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	Missense_Mutation	SNP	89215823	89215823	12391	4	G	A	A	35	35	PKD2	A	2	2
ABCG2	9429	broad.mit.edu	36	4	89280150	89280150	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89280150C>T	uc003hrg.1	-	c.22G>A	c.(22-24)GTT>ATT	p.V8I	ABCG2_uc003hrh.1_Missense_Mutation_p.V8I|ABCG2_uc003hri.1_Missense_Mutation_p.V8I|ABCG2_uc003hrj.1_Missense_Mutation_p.V8I|ABCG2_uc003hrk.1_Missense_Mutation_p.V8I	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	8	Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)			Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)									0.266667	50.662826	54.35374	20	55	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Missense_Mutation	SNP	89280150	89280150	70	4	C	T	T	20	20	ABCG2	T	2	2
PPM1K	152926	broad.mit.edu	36	4	89408464	89408464	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89408464G>A	uc003hrm.2	-	c.754C>T	c.(754-756)CCT>TCT	p.P252S		NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	252	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)												0.507772	280.886577	280.898065	98	95	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	Missense_Mutation	SNP	89408464	89408464	12778	4	G	A	A	42	42	PPM1K	A	2	2
PPM1K	152926	broad.mit.edu	36	4	89417419	89417419	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89417419C>T	uc003hrm.2	-	c.441G>A	c.(439-441)ATG>ATA	p.M147I	PPM1K_uc010ikp.1_Missense_Mutation_p.M147I|PPM1K_uc003hrn.2_Missense_Mutation_p.M147I	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	147	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)												0.300885	88.73088	92.718888	34	79	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	Missense_Mutation	SNP	89417419	89417419	12778	4	C	T	T	22	22	PPM1K	T	2	2
PPM1K	152926	broad.mit.edu	36	4	89418621	89418621	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89418621A>G	uc003hrm.2	-	c.139T>C	c.(139-141)TGT>CGT	p.C47R	PPM1K_uc010ikp.1_Missense_Mutation_p.C47R|PPM1K_uc003hrn.2_Missense_Mutation_p.C47R	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	47					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)												0.436893	131.827053	132.188815	45	58	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	Missense_Mutation	SNP	89418621	89418621	12778	4	A	G	G	6	6	PPM1K	G	4	4
HERC6	55008	broad.mit.edu	36	4	89525713	89525713	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89525713T>G	uc003hrq.1	+	c.399T>G	c.(397-399)GTT>GTG	p.V133V	HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc010ikq.1_Silent_p.V11V|HERC6_uc003hrr.1_5'UTR|HERC6_uc003hrs.1_5'UTR	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6	133	RCC1 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(1)|kidney(1)	2		Hepatocellular(203;0.114)												0.375	10.123392	10.233006	3	5	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	Silent	SNP	89525713	89525713	7345	4	T	G	G	64	64	HERC6	G	4	4
HERC6	55008	broad.mit.edu	36	4	89582531	89582531	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89582531C>A	uc003hrq.1	+	c.2965C>A	c.(2965-2967)CTC>ATC	p.L989I	HERC6_uc010ikq.1_Missense_Mutation_p.L831I|HERC6_uc003hrr.1_Missense_Mutation_p.L344I|HERC6_uc003hrs.1_Missense_Mutation_p.L346I	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6	989	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(1)|kidney(1)	2		Hepatocellular(203;0.114)												0.387755	47.141612	47.671677	19	30	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	Missense_Mutation	SNP	89582531	89582531	7345	4	C	A	A	32	32	HERC6	A	3	3
HERC5	51191	broad.mit.edu	36	4	89626337	89626337	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89626337G>A	uc003hrt.1	+	c.1786G>A	c.(1786-1788)GAA>AAA	p.E596K		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	596					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)	6		Hepatocellular(203;0.114)				Esophageal Squamous(39;887 1012 34045 50514)								0.274611	129.398684	138.225972	53	140	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	Missense_Mutation	SNP	89626337	89626337	7344	4	G	A	A	37	37	HERC5	A	1	1
HERC5	51191	broad.mit.edu	36	4	89629382	89629382	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89629382G>A	uc003hrt.1	+	c.2005G>A	c.(2005-2007)GAA>AAA	p.E669K		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	669					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)	6		Hepatocellular(203;0.114)				Esophageal Squamous(39;887 1012 34045 50514)								0.325103	211.454184	218.043357	79	164	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	Missense_Mutation	SNP	89629382	89629382	7344	4	G	A	A	41	41	HERC5	A	2	2
HERC5	51191	broad.mit.edu	36	4	89634378	89634378	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89634378C>A	uc003hrt.1	+	c.2317C>A	c.(2317-2319)CTA>ATA	p.L773I		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	773	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)	6		Hepatocellular(203;0.114)				Esophageal Squamous(39;887 1012 34045 50514)								0.205882	65.913175	79.568492	35	135	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	Missense_Mutation	SNP	89634378	89634378	7344	4	C	A	A	32	32	HERC5	A	3	3
HERC3	8916	broad.mit.edu	36	4	89808128	89808128	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89808128A>C	uc003hrw.1	+	c.1506A>C	c.(1504-1506)GAA>GAC	p.E502D		NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	502					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity				0														0.369338	311.517261	315.844872	106	181	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	Missense_Mutation	SNP	89808128	89808128	7342	4	A	C	C	3	3	HERC3	C	4	4
FAM13A	10144	broad.mit.edu	36	4	89872274	89872274	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89872274G>A	uc003hse.1	-	c.2745C>T	c.(2743-2745)TTC>TTT	p.F915F	FAM13A_uc003hsf.1_Silent_p.F501F|FAM13A_uc003hsb.1_Silent_p.F589F|FAM13A_uc003hsc.1_Silent_p.F575F|FAM13A_uc003hsd.1_Silent_p.F561F|FAM13A_uc003hsg.1_Silent_p.F358F|FAM13A_uc003hsa.1_Silent_p.F358F	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	915					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2														0.52349	229.748629	229.819881	78	71	GG		KEEP	---	---	---	---	capture			Silent	SNP	89872274	89872274	5649	4	G	A	A	37	37	FAM13A	A	1	1
FAM13A	10144	broad.mit.edu	36	4	89887863	89887863	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89887863G>A	uc003hse.1	-	c.2324C>T	c.(2323-2325)TCT>TTT	p.S775F	FAM13A_uc003hsf.1_Missense_Mutation_p.S361F|FAM13A_uc003hsb.1_Missense_Mutation_p.S449F|FAM13A_uc003hsc.1_Missense_Mutation_p.S435F|FAM13A_uc003hsd.1_Missense_Mutation_p.S449F|FAM13A_uc003hsg.1_Missense_Mutation_p.S246F|FAM13A_uc003hsa.1_Missense_Mutation_p.S246F	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	775					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2														0.094787	20.267705	89.866433	40	382	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89887863	89887863	5649	4	G	A	A	33	33	FAM13A	A	2	2
FAM13A	10144	broad.mit.edu	36	4	90046563	90046563	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:90046563G>T	uc003hse.1	-	c.833C>A	c.(832-834)CCA>CAA	p.P278Q	FAM13A_uc003hsf.1_Missense_Mutation_p.P69Q|FAM13A_uc003hsh.1_Missense_Mutation_p.P92Q	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	278					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2														0.23753	450.540496	503.577198	200	642	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90046563	90046563	5649	4	G	T	T	47	47	FAM13A	T	3	3
TIGD2	166815	broad.mit.edu	36	4	90253448	90253448	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:90253448G>A	uc003hsk.1	+	c.300G>A	c.(298-300)ACG>ACA	p.T100T	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	100	HTH CENPB-type.|H-T-H motif (By similarity).					chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)												0.380488	211.488876	214.060996	78	127	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	Silent	SNP	90253448	90253448	16425	4	G	A	A	37	37	TIGD2	A	1	1
TIGD2	166815	broad.mit.edu	36	4	90253697	90253697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:90253697G>A	uc003hsk.1	+	c.549G>A	c.(547-549)TGG>TGA	p.W183*	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	183	DDE.					chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)												0.166667	41.339069	55.878235	23	115	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	Nonsense_Mutation	SNP	90253697	90253697	16425	4	G	A	A	41	41	TIGD2	A	5	2
TIGD2	166815	broad.mit.edu	36	4	90254587	90254587	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:90254587C>T	uc003hsk.1	+	c.1439C>T	c.(1438-1440)GCG>GTG	p.A480V		NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	480						chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)												0.322581	97.0529	100.520854	40	84	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	Missense_Mutation	SNP	90254587	90254587	16425	4	C	T	T	27	27	TIGD2	T	1	1
GPRIN3	285513	broad.mit.edu	36	4	90389533	90389533	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:90389533G>A	uc003hsm.1	-	c.752C>T	c.(751-753)TCT>TTT	p.S251F	GPRIN3_uc010iks.1_Missense_Mutation_p.S251F	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	251										ovary(2)	2		Hepatocellular(203;0.114)												0.241935	102.869272	114.178984	45	141	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	Missense_Mutation	SNP	90389533	90389533	7007	4	G	A	A	33	33	GPRIN3	A	2	2
GPRIN3	285513	broad.mit.edu	36	4	90390119	90390119	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:90390119G>T	uc003hsm.1	-	c.166C>A	c.(166-168)CTC>ATC	p.L56I	GPRIN3_uc010iks.1_Missense_Mutation_p.L56I	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	56										ovary(2)	2		Hepatocellular(203;0.114)												0.236111	71.293582	80.453616	34	110	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	Missense_Mutation	SNP	90390119	90390119	7007	4	G	T	T	35	35	GPRIN3	T	3	3
MMRN1	22915	broad.mit.edu	36	4	91075589	91075589	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:91075589G>A	uc003hst.1	+	c.1735G>A	c.(1735-1737)GTC>ATC	p.V579I	MMRN1_uc010iku.1_Intron	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	579					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)												0.23913	70.097192	78.681438	33	105	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	Missense_Mutation	SNP	91075589	91075589	10061	4	G	A	A	40	40	MMRN1	A	1	1
FAM190A	401145	broad.mit.edu	36	4	91608492	91608492	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:91608492A>C	uc003hsv.2	+	c.1688A>C	c.(1687-1689)AAA>ACA	p.K563T	FAM190A_uc010ikv.1_Non-coding_Transcript|FAM190A_uc003hsw.1_Missense_Mutation_p.K563T	NM_207491	NP_997374	Q9C0I3	F190A_HUMAN	similar to KIAA1680 protein isoform 2	563										large_intestine(1)|ovary(1)	2														0.560606	130.284949	130.496418	37	29	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91608492	91608492	5732	4	A	C	C	1	1	FAM190A	C	4	4
ATOH1	474	broad.mit.edu	36	4	94969564	94969564	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:94969564G>T	uc003hta.1	+	c.464G>T	c.(463-465)GGG>GTG	p.G155V		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	155					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		Hepatocellular(203;0.114)												0.240964	41.852264	46.940227	20	63	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	Missense_Mutation	SNP	94969564	94969564	1131	4	G	T	T	43	43	ATOH1	T	3	3
ATOH1	474	broad.mit.edu	36	4	94969720	94969720	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:94969720A>G	uc003hta.1	+	c.620A>G	c.(619-621)TAC>TGC	p.Y207C		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	207	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		Hepatocellular(203;0.114)												0.214286	60.572052	68.991007	24	88	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	Missense_Mutation	SNP	94969720	94969720	1131	4	A	G	G	14	14	ATOH1	G	4	4
SMARCAD1	56916	broad.mit.edu	36	4	95418905	95418905	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:95418905T>C	uc003htb.2	+	c.2294T>C	c.(2293-2295)TTG>TCG	p.L765S	SMARCAD1_uc003htd.2_Missense_Mutation_p.L765S|SMARCAD1_uc003htc.2_Missense_Mutation_p.L765S|SMARCAD1_uc010ila.1_Missense_Mutation_p.L628S	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	765					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4														0.105263	16.737662	43.211709	18	153	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	Missense_Mutation	SNP	95418905	95418905	15270	4	T	C	C	63	63	SMARCAD1	C	4	4
SMARCAD1	56916	broad.mit.edu	36	4	95420831	95420831	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:95420831C>T	uc003htb.2	+	c.2490C>T	c.(2488-2490)TTC>TTT	p.F830F	SMARCAD1_uc003htd.2_Silent_p.F830F|SMARCAD1_uc003htc.2_Silent_p.F828F|SMARCAD1_uc010ila.1_Silent_p.F693F	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	828					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4														0.220833	111.163865	128.374172	53	187	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	Silent	SNP	95420831	95420831	15270	4	C	T	T	31	31	SMARCAD1	T	1	1
HPGDS	27306	broad.mit.edu	36	4	95442413	95442413	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:95442413C>A	uc003hte.1	-	c.342G>T	c.(340-342)CAG>CAT	p.Q114H		NM_014485	NP_055300	O60760	HPGDS_HUMAN	prostaglandin-D synthase	114	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			ovary(1)	1					Glutathione(DB00143)	Colon(86;1802 1843 17863 46794)								0.291785	246.051229	259.778959	103	250	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95442413	95442413	7627	4	C	A	A	32	32	HPGDS	A	3	3
PDLIM5	10611	broad.mit.edu	36	4	95726599	95726599	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:95726599G>A	uc003htk.1	+	c.592G>A	c.(592-594)GAT>AAT	p.D198N	PDLIM5_uc003htf.1_Missense_Mutation_p.D178N|PDLIM5_uc003htg.1_Missense_Mutation_p.D198N|PDLIM5_uc003hth.1_Missense_Mutation_p.D192N|PDLIM5_uc003hti.1_Missense_Mutation_p.D301N|PDLIM5_uc003htj.1_5'UTR|PDLIM5_uc003htl.1_5'UTR	NM_001011513	NP_001011513	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform b	167					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)	1		Hepatocellular(203;0.114)												0.262357	167.648077	181.090484	69	194	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	Missense_Mutation	SNP	95726599	95726599	12104	4	G	A	A	37	37	PDLIM5	A	1	1
PDLIM5	10611	broad.mit.edu	36	4	95780588	95780588	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:95780588G>A	uc003htk.1	+	c.1334G>A	c.(1333-1335)CGA>CAA	p.R445Q	PDLIM5_uc003hth.1_Missense_Mutation_p.R307Q|PDLIM5_uc003hti.1_Missense_Mutation_p.R416Q|PDLIM5_uc003htj.1_Missense_Mutation_p.R91Q|PDLIM5_uc003htl.1_Missense_Mutation_p.R91Q	NM_001011513	NP_001011513	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform b	416					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)	1		Hepatocellular(203;0.114)												0.37395	237.801932	241.127039	89	149	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	Missense_Mutation	SNP	95780588	95780588	12104	4	G	A	A	37	37	PDLIM5	A	1	1
SLC2A9	56606	broad.mit.edu	36	4	9591454	9591454	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:9591454C>T	uc003gmc.1	-	c.541G>A	c.(541-543)GCC>ACC	p.A181T	SLC2A9_uc003gmd.1_Missense_Mutation_p.A152T	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	181	Helical; Name=4; (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3														0.227273	42.35429	48.364119	20	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9591454	9591454	15049	4	C	T	T	27	27	SLC2A9	T	1	1
BMPR1B	658	broad.mit.edu	36	4	96255959	96255959	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:96255959G>T	uc003htm.2	+	c.347G>T	c.(346-348)AGA>ATA	p.R116I	BMPR1B_uc010ilb.1_Missense_Mutation_p.R116I|BMPR1B_uc003htn.2_Missense_Mutation_p.R116I	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	116	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|protein phosphorylation	integral to plasma membrane|receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(2)|stomach(1)|skin(1)	4		Hepatocellular(203;0.114)								166				0.121547	18.612565	44.037426	22	159	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	Missense_Mutation	SNP	96255959	96255959	1495	4	G	T	T	33	33	BMPR1B	T	3	3
UNC5C	8633	broad.mit.edu	36	4	96346868	96346868	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:96346868G>A	uc003htp.1	-	c.1836C>T	c.(1834-1836)TGC>TGT	p.C612C	UNC5C_uc010ilc.1_Silent_p.C631C	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C	612	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)												0.196721	67.105008	82.785859	36	147	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	Silent	SNP	96346868	96346868	17551	4	G	A	A	38	38	UNC5C	A	1	1
WDR1	9948	broad.mit.edu	36	4	9693871	9693871	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:9693871C>T	uc003gmf.1	-	c.1069G>A	c.(1069-1071)GAC>AAC	p.D357N	WDR1_uc003gmg.1_Missense_Mutation_p.D217N|WDR1_uc010idm.1_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	357	WD 6.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3														0.698113	113.08997	114.946873	37	16	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	Missense_Mutation	SNP	9693871	9693871	17845	4	C	T	T	31	31	WDR1	T	1	1
IDUA	3425	broad.mit.edu	36	4	971672	971672	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:971672C>T	uc003gby.1	+	c.234C>T	c.(232-234)GGC>GGT	p.G78G	SLC26A1_uc003gbx.1_Intron|IDUA_uc003gbz.1_Non-coding_Transcript|IDUA_uc003gca.1_Intron|SLC26A1_uc003gcc.1_3'UTR|SLC26A1_uc003gcb.1_3'UTR	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	78					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0					Laronidase(DB00090)									0.409091	46.148542	46.463523	18	26	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Silent	SNP	971672	971672	7804	4	C	T	T	27	27	IDUA	T	1	1
SLC26A1	10861	broad.mit.edu	36	4	973411	973411	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:973411C>T	uc003gcb.1	-	c.1316G>A	c.(1315-1317)CGA>CAA	p.R439Q	SLC26A1_uc003gbx.1_Intron|IDUA_uc003gby.1_Intron|IDUA_uc003gbz.1_Intron|IDUA_uc003gca.1_Intron|SLC26A1_uc003gcc.1_Missense_Mutation_p.R439Q	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	439						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity				0														0.25	6.719192	7.401118	3	9	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Missense_Mutation	SNP	973411	973411	15011	4	C	T	T	31	31	SLC26A1	T	1	1
C4orf37	285555	broad.mit.edu	36	4	99246186	99246186	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:99246186T>G	uc003htt.1	-	c.553A>C	c.(553-555)AAT>CAT	p.N185H		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	185											0														0.287879	58.300077	60.961626	19	47	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)	Missense_Mutation	SNP	99246186	99246186	2362	4	T	G	G	64	64	C4orf37	G	4	4
RAP1GDS1	5910	broad.mit.edu	36	4	99544745	99544745	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:99544745T>G	uc003htw.2	+	c.735T>G	c.(733-735)ATT>ATG	p.I245M	RAP1GDS1_uc003htx.2_Missense_Mutation_p.I244M|RAP1GDS1_uc003htv.2_Missense_Mutation_p.I245M|RAP1GDS1_uc003hty.2_Missense_Mutation_p.I196M|RAP1GDS1_uc003htz.2_Missense_Mutation_p.I195M|RAP1GDS1_uc003hua.2_Missense_Mutation_p.I153M	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	244							binding|GTPase activator activity			ovary(1)	1										187				0.218391	101.06054	113.774049	38	136	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	Missense_Mutation	SNP	99544745	99544745	13499	4	T	G	G	64	64	RAP1GDS1	G	4	4
SLCO4C1	353189	broad.mit.edu	36	5	101611009	101611009	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:101611009C>A	uc003knm.1	-	c.1657G>T	c.(1657-1659)GAA>TAA	p.E553*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	553	Extracellular (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)												0.524845	465.78106	465.948645	169	153	CC		KEEP	---	---	---	---	capture		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	Nonsense_Mutation	SNP	101611009	101611009	15227	5	C	A	A	32	32	SLCO4C1	A	5	3
SLCO4C1	353189	broad.mit.edu	36	5	101627366	101627366	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:101627366A>G	uc003knm.1	-	c.820T>C	c.(820-822)TCA>CCA	p.S274P		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	274	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)												0.524476	505.547068	505.695845	150	136	AA		KEEP	---	---	---	---	capture		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	Missense_Mutation	SNP	101627366	101627366	15227	5	A	G	G	10	10	SLCO4C1	G	4	4
SLCO4C1	353189	broad.mit.edu	36	5	101655049	101655049	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:101655049C>T	uc003knm.1	-	c.516G>A	c.(514-516)CCG>CCA	p.P172P		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	172	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)												0.284553	85.573854	90.699844	35	88	CC		KEEP	---	---	---	---	capture		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	Silent	SNP	101655049	101655049	15227	5	C	T	T	31	31	SLCO4C1	T	1	1
SLCO6A1	133482	broad.mit.edu	36	5	101754592	101754592	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:101754592C>A	uc003knn.2	-	c.1871G>T	c.(1870-1872)AGA>ATA	p.R624I	SLCO6A1_uc003kno.2_Missense_Mutation_p.R371I|SLCO6A1_uc003knp.1_Missense_Mutation_p.R624I|SLCO6A1_uc003knq.1_Missense_Mutation_p.R562I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	624	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|central_nervous_system(1)	4		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)												0.204947	112.669976	135.54838	58	225	CC		KEEP	---	---	---	---	capture		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	Missense_Mutation	SNP	101754592	101754592	15229	5	C	A	A	32	32	SLCO6A1	A	3	3
GIN1	54826	broad.mit.edu	36	5	102451653	102451653	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:102451653C>T	uc003koa.1	-	c.1417G>A	c.(1417-1419)GAT>AAT	p.D473N	GIN1_uc003kob.1_Missense_Mutation_p.D326N|GIN1_uc003koc.1_3'UTR	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	473					DNA integration		DNA binding			ovary(1)	1		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)												0.146277	82.075738	127.304996	55	321	CC		KEEP	---	---	---	---	capture		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	Missense_Mutation	SNP	102451653	102451653	6654	5	C	T	T	31	31	GIN1	T	1	1
PPIP5K2	23262	broad.mit.edu	36	5	102530899	102530899	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:102530899C>T	uc003kod.2	+	c.2038C>T	c.(2038-2040)CGA>TGA	p.R680*	PPIP5K2_uc003koe.1_Nonsense_Mutation_p.R680*|PPIP5K2_uc003kof.1_5'Flank	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	680					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)	1														0.163265	82.312688	113.994862	48	246	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	102530899	102530899	12768	5	C	T	T	31	31	PPIP5K2	T	5	1
CCT5	22948	broad.mit.edu	36	5	10317826	10317826	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:10317826T>C	uc003jeq.1	+	c.1557T>C	c.(1555-1557)CTT>CTC	p.L519L	CCT5_uc003jer.1_3'UTR|CCT5_uc010its.1_3'UTR	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	519					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2														0.254682	180.087042	194.658369	68	199	TT		KEEP	---	---	---	---	capture			Silent	SNP	10317826	10317826	3083	5	T	C	C	63	63	CCT5	C	4	4
NKD2	85409	broad.mit.edu	36	5	1087387	1087387	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1087387G>A	uc003jbt.1	+	c.368G>A	c.(367-369)CGC>CAC	p.R123H	NKD2_uc010itf.1_Missense_Mutation_p.R123H	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	naked cuticle homolog 2	123	Targeting to the basolateral cell membrane.|EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding				0	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)									126				0.15	16.648522	26.046495	12	68	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		Missense_Mutation	SNP	1087387	1087387	10843	5	G	A	A	38	38	NKD2	A	1	1
PJA2	9867	broad.mit.edu	36	5	108742430	108742430	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:108742430A>G	uc003kos.2	-	c.657T>C	c.(655-657)GTT>GTC	p.V219V		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	219						cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|zinc ion binding			ovary(1)	1		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)												0.21727	204.653049	231.125013	78	281	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	Silent	SNP	108742430	108742430	12386	5	A	G	G	9	9	PJA2	G	4	4
MAN2A1	4124	broad.mit.edu	36	5	109138414	109138414	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:109138414G>A	uc003kou.1	+	c.1223G>A	c.(1222-1224)CGA>CAA	p.R408Q		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	408	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)												0.316456	127.99219	132.726667	50	108	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	Missense_Mutation	SNP	109138414	109138414	9597	5	G	A	A	37	37	MAN2A1	A	1	1
MAN2A1	4124	broad.mit.edu	36	5	109183406	109183406	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:109183406G>A	uc003kou.1	+	c.2247G>A	c.(2245-2247)AAG>AAA	p.K749K		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	749	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)												0.162521	180.433353	245.75521	98	505	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	Silent	SNP	109183406	109183406	9597	5	G	A	A	33	33	MAN2A1	A	2	2
SLC25A46	91137	broad.mit.edu	36	5	110124944	110124944	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:110124944C>T	uc003koz.1	+	c.820C>T	c.(820-822)CTT>TTT	p.L274F		NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	274	Helical; Name=4; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)												0.51632	535.639032	535.716183	174	163	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	Missense_Mutation	SNP	110124944	110124944	15008	5	C	T	T	32	32	SLC25A46	T	2	2
WDR36	134430	broad.mit.edu	36	5	110470900	110470900	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:110470900C>T	uc003kpd.1	+	c.1357C>T	c.(1357-1359)CGT>TGT	p.R453C	WDR36_uc010jbu.1_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	453					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)	1		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)												0.333333	101.377327	104.259941	39	78	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	Missense_Mutation	SNP	110470900	110470900	17863	5	C	T	T	31	31	WDR36	T	1	1
WDR36	134430	broad.mit.edu	36	5	110487455	110487455	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:110487455C>A	uc003kpd.1	+	c.2370C>A	c.(2368-2370)TTC>TTA	p.F790L	WDR36_uc010jbu.1_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	790					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)	1		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)												0.578947	418.522085	419.858658	143	104	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	Missense_Mutation	SNP	110487455	110487455	17863	5	C	A	A	29	29	WDR36	A	3	3
SLC12A7	10723	broad.mit.edu	36	5	1113508	1113508	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1113508G>A	uc003jbu.1	-	c.2798C>T	c.(2797-2799)TCG>TTG	p.S933L		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	933	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			large_intestine(1)	1	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)				Potassium Chloride(DB00761)									0.167421	59.537241	82.720942	37	184	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Missense_Mutation	SNP	1113508	1113508	14883	5	G	A	A	37	37	SLC12A7	A	1	1
SLC12A7	10723	broad.mit.edu	36	5	1117307	1117307	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1117307G>A	uc003jbu.1	-	c.2498C>T	c.(2497-2499)TCG>TTG	p.S833L		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	833					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			large_intestine(1)	1	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)				Potassium Chloride(DB00761)									0.142857	12.911018	21.511893	10	60	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Missense_Mutation	SNP	1117307	1117307	14883	5	G	A	A	37	37	SLC12A7	A	1	1
APC	324	broad.mit.edu	36	5	112130838	112130838	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112130838T>C	uc010jby.1	+	c.274T>C	c.(274-276)TCC>CCC	p.S92P	APC_uc003kpz.2_Missense_Mutation_p.S92P|APC_uc003kpy.2_Missense_Mutation_p.S92P|APC_uc010jbz.1_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	92	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|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			large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		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)				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.592784	378.661709	380.13633	115	79	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	112130838	112130838	773	5	T	C	C	58	58	APC	C	4	4
APC	324	broad.mit.edu	36	5	112182724	112182724	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112182724G>T	uc010jby.1	+	c.1096G>T	c.(1096-1098)GAC>TAC	p.D366Y	APC_uc003kpz.2_Missense_Mutation_p.D366Y|APC_uc003kpy.2_Missense_Mutation_p.D366Y|APC_uc010jbz.1_Missense_Mutation_p.D83Y|APC_uc010jca.1_5'Flank	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	366	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|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			large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		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)				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.18	60.771701	80.045848	36	164	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	112182724	112182724	773	5	G	T	T	33	33	APC	T	3	3
APC	324	broad.mit.edu	36	5	112201907	112201907	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112201907C>A	uc010jby.1	+	c.2717C>A	c.(2716-2718)TCT>TAT	p.S906Y	APC_uc003kpz.2_Missense_Mutation_p.S906Y|APC_uc003kpy.2_Missense_Mutation_p.S906Y|APC_uc010jbz.1_Missense_Mutation_p.S623Y|APC_uc010jca.1_Missense_Mutation_p.S206Y	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	906	Ser-rich.		S -> Y (in colorectal tumor).		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 protein catabolic process|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.S906fs*10(2)|p.S906Y(1)|p.E902fs*3(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		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)				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.478261	181.024455	181.082097	66	72	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	112201907	112201907	773	5	C	A	A	32	32	APC	A	3	3
APC	324	broad.mit.edu	36	5	112203585	112203585	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112203585T>C	uc010jby.1	+	c.4395T>C	c.(4393-4395)AGT>AGC	p.S1465S	APC_uc003kpz.2_Silent_p.S1465S|APC_uc003kpy.2_Silent_p.S1465S|APC_uc010jbz.1_Silent_p.S1182S|APC_uc010jca.1_Silent_p.S765S	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1465	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 protein catabolic process|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.K1454fs*3(1)|p.K1192fs*3(1)|p.G1466fs*8(1)|p.S1465fs*3(1)|p.S1465fs*9(1)|p.S1465R(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		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)				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12	p.S1465fs(CL40-Tumor)	629	TSP Lung(16;0.13)			0.182879	97.895692	122.148723	47	210	TT		KEEP	---	---	---	---	capture		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)	Silent	SNP	112203585	112203585	773	5	T	C	C	59	59	APC	C	4	4
APC	324	broad.mit.edu	36	5	112207466	112207466	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112207466G>A	uc010jby.1	+	c.8276G>A	c.(8275-8277)CGT>CAT	p.R2759H	APC_uc003kpz.2_Missense_Mutation_p.R2759H|APC_uc003kpy.2_Missense_Mutation_p.R2759H|APC_uc010jbz.1_Missense_Mutation_p.R2476H|APC_uc010jca.1_Missense_Mutation_p.R2059H	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2759	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 protein catabolic process|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			large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		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)				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.178723	74.333139	97.149246	42	193	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	112207466	112207466	773	5	G	A	A	40	40	APC	A	1	1
REEP5	7905	broad.mit.edu	36	5	112284799	112284799	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112284799G>T	uc003kqe.1	-	c.172C>A	c.(172-174)CTC>ATC	p.L58I		NM_005669	NP_005660	Q00765	REEP5_HUMAN	receptor accessory protein 5	58						integral to membrane	protein binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)												0.241935	29.744518	33.563815	15	47	GG		KEEP	---	---	---	---	capture		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)	Missense_Mutation	SNP	112284799	112284799	13677	5	G	T	T	35	35	REEP5	T	3	3
DCP2	167227	broad.mit.edu	36	5	112364824	112364824	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112364824G>A	uc003kqh.1	+	c.577G>A	c.(577-579)GAA>AAA	p.E193K	DCP2_uc010jcc.1_Missense_Mutation_p.E99K	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	193	Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)												0.135417	37.30934	62.048828	26	166	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	Missense_Mutation	SNP	112364824	112364824	4471	5	G	A	A	33	33	DCP2	A	2	2
MCC	4163	broad.mit.edu	36	5	112506911	112506911	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112506911G>A	uc003kql.2	-	c.787C>T	c.(787-789)CGA>TGA	p.R263*	MCC_uc003kqj.2_Nonsense_Mutation_p.R73*|MCC_uc003kqk.2_Non-coding_Transcript|MCC_uc010jcd.1_Nonsense_Mutation_p.R35*	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	73					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)								12				0.388889	129.640573	131.004789	49	77	GG		KEEP	---	---	---	---	capture		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)	Nonsense_Mutation	SNP	112506911	112506911	9762	5	G	A	A	38	38	MCC	A	5	1
TSSK1B	83942	broad.mit.edu	36	5	112797420	112797420	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112797420G>A	uc003kqm.1	-	c.1016C>T	c.(1015-1017)TCG>TTG	p.S339L	MCC_uc003kql.2_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	339					cell differentiation|multicellular organismal development|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(1)	3		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)								32				0.311828	70.382215	73.292393	29	64	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	112797420	112797420	17221	5	G	A	A	37	37	TSSK1B	A	1	1
TSSK1B	83942	broad.mit.edu	36	5	112797788	112797788	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112797788G>A	uc003kqm.1	-	c.648C>T	c.(646-648)TAC>TAT	p.Y216Y	MCC_uc003kql.2_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	216	Protein kinase.				cell differentiation|multicellular organismal development|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(1)	3		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)								32				0.157895	31.493863	48.483898	24	128	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	112797788	112797788	17221	5	G	A	A	40	40	TSSK1B	A	1	1
YTHDC2	64848	broad.mit.edu	36	5	112929505	112929505	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112929505G>A	uc003kqn.1	+	c.2732G>A	c.(2731-2733)CGA>CAA	p.R911Q		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	911							ATP binding|ATP-dependent helicase activity|nucleic acid binding			central_nervous_system(1)	1		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)												0.492228	270.589514	270.600031	95	98	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	Missense_Mutation	SNP	112929505	112929505	18080	5	G	A	A	37	37	YTHDC2	A	1	1
YTHDC2	64848	broad.mit.edu	36	5	112945016	112945016	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112945016G>A	uc003kqn.1	+	c.3358G>A	c.(3358-3360)GCT>ACT	p.A1120T		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1120							ATP binding|ATP-dependent helicase activity|nucleic acid binding			central_nervous_system(1)	1		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)												0.15625	81.570301	114.078499	45	243	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	Missense_Mutation	SNP	112945016	112945016	18080	5	G	A	A	34	34	YTHDC2	A	2	2
YTHDC2	64848	broad.mit.edu	36	5	112955686	112955686	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112955686G>A	uc003kqn.1	+	c.4124G>A	c.(4123-4125)CGA>CAA	p.R1375Q		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1375	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			central_nervous_system(1)	1		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)												0.232558	44.214307	49.807458	20	66	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	Missense_Mutation	SNP	112955686	112955686	18080	5	G	A	A	37	37	YTHDC2	A	1	1
KCNN2	3781	broad.mit.edu	36	5	113768240	113768240	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:113768240C>T	uc003kqo.1	+	c.789C>T	c.(787-789)TTC>TTT	p.F263F		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	263	Helical; Name=Segment S4; (Potential).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)												0.110119	34.111584	84.673884	37	299	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Silent	SNP	113768240	113768240	8384	5	C	T	T	32	32	KCNN2	T	2	2
SLC12A7	10723	broad.mit.edu	36	5	1138412	1138412	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1138412G>A	uc003jbu.1	-	c.852C>T	c.(850-852)GTC>GTT	p.V284V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	284	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			large_intestine(1)	1	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)				Potassium Chloride(DB00761)									0.294118	36.604008	38.53942	15	36	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Silent	SNP	1138412	1138412	14883	5	G	A	A	37	37	SLC12A7	A	1	1
KCNN2	3781	broad.mit.edu	36	5	113859707	113859707	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:113859707C>T	uc003kqo.1	+	c.1669C>T	c.(1669-1671)CGG>TGG	p.R557W	KCNN2_uc003kqp.1_Missense_Mutation_p.R209W|KCNN2_uc010jcg.1_Non-coding_Transcript	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	557						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)												0.174286	101.072038	136.11907	61	289	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Missense_Mutation	SNP	113859707	113859707	8384	5	C	T	T	27	27	KCNN2	T	1	1
TRIM36	55521	broad.mit.edu	36	5	114490143	114490143	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:114490143C>A	uc003kqs.1	-	c.2143G>T	c.(2143-2145)GAA>TAA	p.E715*	TRIM36_uc003kqt.1_Nonsense_Mutation_p.E560*	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	715	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			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)								304				0.5	144.787632	144.787632	52	52	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	Nonsense_Mutation	SNP	114490143	114490143	17054	5	C	A	A	32	32	TRIM36	A	5	3
TRIM36	55521	broad.mit.edu	36	5	114504971	114504971	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:114504971C>T	uc003kqs.1	-	c.772_splice	c.e5-1	p.E258_splice	TRIM36_uc003kqt.1_Splice_Site_SNP_p.E103_splice	NM_018700	NP_061170			tripartite motif-containing 36 isoform 1							acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			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)								304				0.305263	82.336297	85.551489	29	66	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	Splice_Site_SNP	SNP	114504971	114504971	17054	5	C	T	T	24	24	TRIM36	T	5	2
CCDC112	153733	broad.mit.edu	36	5	114634869	114634869	+	Missense_Mutation	SNP	C	A	A	rs17856922	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:114634869C>A	uc003kqz.2	-	c.1272G>T	c.(1270-1272)AAG>AAT	p.K424N	CCDC112_uc003kqy.2_Missense_Mutation_p.K341N|CCDC112_uc003kra.2_Missense_Mutation_p.K424N	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112 isoform 1	341	Potential.										0		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)												0.351421	335.518364	343.081312	136	251	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	Missense_Mutation	SNP	114634869	114634869	2869	5	C	A	A	24	24	CCDC112	A	3	3
CCDC112	153733	broad.mit.edu	36	5	114648418	114648418	+	Silent	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:114648418T>A	uc003kqz.2	-	c.204A>T	c.(202-204)GCA>GCT	p.A68A	CCDC112_uc003kqy.2_5'UTR|CCDC112_uc003kra.2_Silent_p.A68A	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112 isoform 1	Error:Variant_position_missing_in_Q8NEF3_after_alignment											0		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)												0.195122	68.402942	82.620571	32	132	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	Silent	SNP	114648418	114648418	2869	5	T	A	A	55	55	CCDC112	A	4	4
FEM1C	56929	broad.mit.edu	36	5	114888156	114888156	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:114888156G>A	uc003krb.1	-	c.1602C>T	c.(1600-1602)ATC>ATT	p.I534I		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	534	ANK 9.					cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)												0.350797	398.79899	407.428014	154	285	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	Silent	SNP	114888156	114888156	6048	5	G	A	A	37	37	FEM1C	A	1	1
FEM1C	56929	broad.mit.edu	36	5	114888422	114888422	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:114888422A>G	uc003krb.1	-	c.1336T>C	c.(1336-1338)TTG>CTG	p.L446L		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	446						cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)												0.561605	702.641653	703.796944	196	153	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	Silent	SNP	114888422	114888422	6048	5	A	G	G	1	1	FEM1C	G	4	4
FEM1C	56929	broad.mit.edu	36	5	114906901	114906901	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:114906901T>C	uc003krb.1	-	c.189A>G	c.(187-189)CAA>CAG	p.Q63Q		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	63	ANK 2.					cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)												0.189189	67.630556	80.990806	28	120	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	Silent	SNP	114906901	114906901	6048	5	T	C	C	52	52	FEM1C	C	4	4
AQPEP	206338	broad.mit.edu	36	5	115326852	115326852	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:115326852G>T	uc003kro.1	+	c.639G>T	c.(637-639)AAG>AAT	p.K213N	AQPEP_uc003krp.1_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	213	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.362069	53.4511	54.425313	21	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115326852	115326852	845	5	G	T	T	35	35	AQPEP	T	3	3
AQPEP	206338	broad.mit.edu	36	5	115355833	115355833	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:115355833C>A	uc003kro.1	+	c.1220C>A	c.(1219-1221)ACT>AAT	p.T407N	AQPEP_uc003krp.1_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	407	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.311953	282.585262	293.392889	107	236	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115355833	115355833	845	5	C	A	A	20	20	AQPEP	A	3	3
AQPEP	206338	broad.mit.edu	36	5	115364032	115364032	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:115364032G>A	uc003kro.1	+	c.1519G>A	c.(1519-1521)GCG>ACG	p.A507T	AQPEP_uc003krp.1_Non-coding_Transcript|AQPEP_uc003krq.1_Non-coding_Transcript|AQPEP_uc003krr.1_Non-coding_Transcript|AQPEP_uc003krs.1_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	507	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.17217	146.296961	189.367696	73	351	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115364032	115364032	845	5	G	A	A	34	34	AQPEP	A	2	2
DMXL1	1657	broad.mit.edu	36	5	118535429	118535429	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:118535429C>A	uc010jcl.1	+	c.6547C>A	c.(6547-6549)CTC>ATC	p.L2183I	DMXL1_uc003ksd.2_Missense_Mutation_p.L2183I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2183										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)												0.34689	369.295768	377.969596	145	273	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	Missense_Mutation	SNP	118535429	118535429	4776	5	C	A	A	24	24	DMXL1	A	3	3
DMXL1	1657	broad.mit.edu	36	5	118541723	118541723	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:118541723T>C	uc010jcl.1	+	c.7020T>C	c.(7018-7020)AGT>AGC	p.S2340S	DMXL1_uc003ksd.2_Silent_p.S2340S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2340										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)												0.177215	128.040411	159.025518	56	260	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	Silent	SNP	118541723	118541723	4776	5	T	C	C	57	57	DMXL1	C	4	4
TNFAIP8	25816	broad.mit.edu	36	5	118756555	118756555	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:118756555G>A	uc003ksh.1	+	c.177G>A	c.(175-177)AGG>AGA	p.R59R	TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.1_Silent_p.R49R|TNFAIP8_uc003ksi.1_Silent_p.R59R	NM_014350	NP_055165	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	59	Potential.				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)												0.12963	10.18605	17.39733	7	47	GG		KEEP	---	---	---	---	capture		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	Silent	SNP	118756555	118756555	16817	5	G	A	A	43	43	TNFAIP8	A	2	2
PRR16	51334	broad.mit.edu	36	5	120049998	120049998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:120049998C>T	uc003ksq.1	+	c.610C>T	c.(610-612)CGA>TGA	p.R204*	PRR16_uc003ksp.1_Nonsense_Mutation_p.R181*|PRR16_uc003ksr.1_Nonsense_Mutation_p.R134*	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	204	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)												0.15942	31.560795	46.820532	22	116	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	Nonsense_Mutation	SNP	120049998	120049998	13032	5	C	T	T	19	19	PRR16	T	5	1
FTMT	94033	broad.mit.edu	36	5	121215690	121215690	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:121215690C>A	uc003kss.1	+	c.133C>A	c.(133-135)CCC>ACC	p.P45T		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	mitochondrial ferritin	45					cellular iron ion homeostasis|iron ion transport|oxidation-reduction process|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)												0.290323	20.663718	21.884559	9	22	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	Missense_Mutation	SNP	121215690	121215690	6336	5	C	A	A	22	22	FTMT	A	3	3
SRFBP1	153443	broad.mit.edu	36	5	121383716	121383716	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:121383716T>C	uc003kst.1	+	c.387T>C	c.(385-387)AAT>AAC	p.N129N		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	129	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)												0.47191	267.800286	267.921184	84	94	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	Silent	SNP	121383716	121383716	15658	5	T	C	C	51	51	SRFBP1	C	4	4
SRFBP1	153443	broad.mit.edu	36	5	121390670	121390670	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:121390670C>T	uc003kst.1	+	c.1240C>T	c.(1240-1242)CAA>TAA	p.Q414*		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)												0.565574	198.173492	198.62829	69	53	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	Nonsense_Mutation	SNP	121390670	121390670	15658	5	C	T	T	25	25	SRFBP1	T	5	2
SNCAIP	9627	broad.mit.edu	36	5	121814871	121814871	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:121814871G>T	uc003ksx.1	+	c.2571G>T	c.(2569-2571)CAG>CAT	p.Q857H	SNCAIP_uc003ksw.1_Missense_Mutation_p.Q810H|SNCAIP_uc003ksy.1_Missense_Mutation_p.Q444H|SNCAIP_uc003ksz.1_Missense_Mutation_p.Q444H|SNCAIP_uc010jcu.1_Missense_Mutation_p.Q406H|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.Q504H|SNCAIP_uc010jcx.1_Missense_Mutation_p.Q750H|SNCAIP_uc003kta.1_Missense_Mutation_p.Q442H|SNCAIP_uc003ktc.1_Missense_Mutation_p.Q326H	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	810					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	protein binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)												0.346667	129.537983	132.658891	52	98	GG		KEEP	---	---	---	---	capture	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)	Missense_Mutation	SNP	121814871	121814871	15341	5	G	T	T	33	33	SNCAIP	T	3	3
SNCAIP	9627	broad.mit.edu	36	5	121815034	121815034	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:121815034C>T	uc003ksx.1	+	c.2734C>T	c.(2734-2736)CGA>TGA	p.R912*	SNCAIP_uc003ksw.1_Nonsense_Mutation_p.R865*|SNCAIP_uc003ksy.1_Nonsense_Mutation_p.R499*|SNCAIP_uc003ksz.1_Nonsense_Mutation_p.R499*|SNCAIP_uc010jcu.1_Nonsense_Mutation_p.R461*|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Nonsense_Mutation_p.R559*|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.R805*|SNCAIP_uc003kta.1_Nonsense_Mutation_p.R497*|SNCAIP_uc003ktc.1_Nonsense_Mutation_p.R381*	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	865					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	protein binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)												0.195584	122.060245	149.457417	62	255	CC		KEEP	---	---	---	---	capture	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)	Nonsense_Mutation	SNP	121815034	121815034	15341	5	C	T	T	31	31	SNCAIP	T	5	1
ZNF608	57507	broad.mit.edu	36	5	124004875	124004875	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:124004875C>T	uc003ktq.1	-	c.4419G>A	c.(4417-4419)CCG>CCA	p.P1473P	ZNF608_uc003ktp.1_Silent_p.P168P|ZNF608_uc003ktr.1_Intron	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1473						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)								447				0.511111	723.717133	723.769981	253	242	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	Silent	SNP	124004875	124004875	18629	5	C	T	T	27	27	ZNF608	T	1	1
ZNF608	57507	broad.mit.edu	36	5	124010428	124010428	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:124010428G>A	uc003ktq.1	-	c.3548C>T	c.(3547-3549)TCG>TTG	p.S1183L	ZNF608_uc003ktp.1_5'Flank|ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S1183L|ZNF608_uc003ktt.1_Missense_Mutation_p.S1183L	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1183						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)								447				0.180693	130.91801	169.662934	73	331	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	Missense_Mutation	SNP	124010428	124010428	18629	5	G	A	A	37	37	ZNF608	A	1	1
ZNF608	57507	broad.mit.edu	36	5	124010527	124010527	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:124010527G>A	uc003ktq.1	-	c.3449C>T	c.(3448-3450)TCG>TTG	p.S1150L	ZNF608_uc003ktp.1_5'Flank|ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S1150L|ZNF608_uc003ktt.1_Missense_Mutation_p.S1150L	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1150						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)								447				0.207715	143.156224	169.83873	70	267	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	Missense_Mutation	SNP	124010527	124010527	18629	5	G	A	A	37	37	ZNF608	A	1	1
ZNF608	57507	broad.mit.edu	36	5	124011850	124011850	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:124011850T>G	uc003ktq.1	-	c.2126A>C	c.(2125-2127)AAA>ACA	p.K709T	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.K709T|ZNF608_uc003ktt.1_Missense_Mutation_p.K709T	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	709						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)								447				0.180617	98.147803	119.907329	41	186	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	Missense_Mutation	SNP	124011850	124011850	18629	5	T	G	G	64	64	ZNF608	G	4	4
GRAMD3	65983	broad.mit.edu	36	5	125848008	125848008	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:125848008A>C	uc003ktu.1	+	c.863A>C	c.(862-864)GAA>GCA	p.E288A		NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	288										central_nervous_system(1)	1		Prostate(80;0.0928)												0.191638	135.96949	161.45225	55	232	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	Missense_Mutation	SNP	125848008	125848008	7027	5	A	C	C	9	9	GRAMD3	C	4	4
PHAX	51808	broad.mit.edu	36	5	125967319	125967319	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:125967319G>A	uc003kua.1	+	c.255G>A	c.(253-255)CAG>CAA	p.Q85Q		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	85	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0														0.38206	323.641288	327.316778	115	186	GG		KEEP	---	---	---	---	capture			Silent	SNP	125967319	125967319	12236	5	G	A	A	33	33	PHAX	A	2	2
PHAX	51808	broad.mit.edu	36	5	125967560	125967560	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:125967560G>T	uc003kua.1	+	c.496G>T	c.(496-498)GAG>TAG	p.E166*		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	166	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0														0.347826	115.030764	117.863577	48	90	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	125967560	125967560	12236	5	G	T	T	33	33	PHAX	T	5	3
PHAX	51808	broad.mit.edu	36	5	125971974	125971974	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:125971974G>T	uc003kua.1	+	c.730G>T	c.(730-732)GAC>TAC	p.D244Y		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	244	Necessary for interaction with CBP80 (By similarity).|Sufficient for poly U RNA-binding.				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0														0.273973	138.387091	148.480048	60	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125971974	125971974	12236	5	G	T	T	33	33	PHAX	T	3	3
C5orf48	389320	broad.mit.edu	36	5	125999772	125999772	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:125999772G>A	uc003kub.1	+	c.345G>A	c.(343-345)TCG>TCA	p.S115S		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	hypothetical protein LOC389320	115										ovary(1)	1														0.371324	251.585137	255.547738	101	171	GG		KEEP	---	---	---	---	capture			Silent	SNP	125999772	125999772	2405	5	G	A	A	38	38	C5orf48	A	1	1
LMNB1	4001	broad.mit.edu	36	5	126184676	126184676	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:126184676G>T	uc003kud.1	+	c.1336G>T	c.(1336-1338)GAA>TAA	p.E446*	LMNB1_uc010jdb.1_Non-coding_Transcript	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	446	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)								192				0.545918	303.61363	303.970437	107	89	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	Nonsense_Mutation	SNP	126184676	126184676	9178	5	G	T	T	33	33	LMNB1	T	5	3
MARCH3	115123	broad.mit.edu	36	5	126278708	126278708	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:126278708G>A	uc003kuf.1	-	c.206C>T	c.(205-207)CCG>CTG	p.P69L		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	69	RING-CH-type.				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding				0		Prostate(80;0.0928)												0.395604	106.175859	107.045201	36	55	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)	Missense_Mutation	SNP	126278708	126278708	9685	5	G	A	A	39	39	MARCH3	A	1	1
MEGF10	84466	broad.mit.edu	36	5	126786297	126786297	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:126786297G>A	uc003kuh.2	+	c.1627G>A	c.(1627-1629)GAC>AAC	p.D543N	MEGF10_uc010jdc.1_Missense_Mutation_p.D543N|MEGF10_uc010jdd.1_Missense_Mutation_p.D543N|MEGF10_uc003kui.2_Missense_Mutation_p.D543N	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	543	Extracellular (Potential).|EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.			D -> G (in Ref. 2; CAH18275).	cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)												0.111111	10.503144	32.040963	16	128	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	Missense_Mutation	SNP	126786297	126786297	9849	5	G	A	A	37	37	MEGF10	A	1	1
MEGF10	84466	broad.mit.edu	36	5	126802060	126802060	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:126802060G>A	uc003kuh.2	+	c.2135G>A	c.(2134-2136)TGC>TAC	p.C712Y	MEGF10_uc003kui.2_Missense_Mutation_p.C712Y	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	712	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)												0.213376	120.336899	144.208693	67	247	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	Missense_Mutation	SNP	126802060	126802060	9849	5	G	A	A	46	46	MEGF10	A	2	2
MEGF10	84466	broad.mit.edu	36	5	126806657	126806657	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:126806657G>A	uc003kuh.2	+	c.2431G>A	c.(2431-2433)GAC>AAC	p.D811N	MEGF10_uc003kui.2_Missense_Mutation_p.D811N	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	811	Extracellular (Potential).|EGF-like 15.|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)												0.466258	211.475228	211.637416	76	87	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	Missense_Mutation	SNP	126806657	126806657	9849	5	G	A	A	37	37	MEGF10	A	1	1
SLC12A2	6558	broad.mit.edu	36	5	127502230	127502230	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127502230A>C	uc003kus.1	+	c.1451A>C	c.(1450-1452)GAA>GCA	p.E484A	SLC12A2_uc010jdf.1_Non-coding_Transcript	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	484	Extracellular (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(2)	2		all_cancers(142;0.0972)|Prostate(80;0.151)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.119318	64.317933	114.3712	42	310	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Missense_Mutation	SNP	127502230	127502230	14878	5	A	C	C	9	9	SLC12A2	C	4	4
SLC12A2	6558	broad.mit.edu	36	5	127538208	127538208	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127538208C>T	uc003kus.1	+	c.2880C>T	c.(2878-2880)TCC>TCT	p.S960S	SLC12A2_uc010jdf.1_Non-coding_Transcript|SLC12A2_uc010jdg.1_Silent_p.S248S	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	960	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(2)	2		all_cancers(142;0.0972)|Prostate(80;0.151)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.159292	31.777508	44.278448	18	95	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Silent	SNP	127538208	127538208	14878	5	C	T	T	23	23	SLC12A2	T	1	1
FBN2	2201	broad.mit.edu	36	5	127625438	127625438	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127625438G>A	uc003kuu.1	-	c.8253C>T	c.(8251-8253)GTC>GTT	p.V2751V		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2751					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)								1552				0.385802	330.293965	333.997908	125	199	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	Silent	SNP	127625438	127625438	5939	5	G	A	A	37	37	FBN2	A	1	1
FBN2	2201	broad.mit.edu	36	5	127641508	127641508	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127641508A>C	uc003kuu.1	-	c.7434T>G	c.(7432-7434)GTT>GTG	p.V2478V		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2478	EGF-like 41; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)								1552				0.238994	109.783963	119.66385	38	121	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	Silent	SNP	127641508	127641508	5939	5	A	C	C	5	5	FBN2	C	4	4
FBN2	2201	broad.mit.edu	36	5	127702585	127702585	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127702585G>T	uc003kuu.1	-	c.3411C>A	c.(3409-3411)AGC>AGA	p.S1137R	FBN2_uc003kuv.1_Missense_Mutation_p.S138R	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1137	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)								1552				0.183761	75.159644	97.16111	43	191	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	Missense_Mutation	SNP	127702585	127702585	5939	5	G	T	T	34	34	FBN2	T	3	3
FBN2	2201	broad.mit.edu	36	5	127738226	127738226	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127738226A>G	uc003kuu.1	-	c.2089T>C	c.(2089-2091)TGT>CGT	p.C697R		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	697	EGF-like 10; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)								1552				0.1	17.763783	65.690931	30	270	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	Missense_Mutation	SNP	127738226	127738226	5939	5	A	G	G	6	6	FBN2	G	4	4
FBN2	2201	broad.mit.edu	36	5	127891495	127891495	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127891495C>A	uc003kuu.1	-	c.501G>T	c.(499-501)CAG>CAT	p.Q167H	FBN2_uc003kuw.2_Missense_Mutation_p.Q167H|FBN2_uc003kux.1_Missense_Mutation_p.Q167H	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	167	EGF-like 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)								1552				0.267327	61.570962	66.515322	27	74	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	Missense_Mutation	SNP	127891495	127891495	5939	5	C	A	A	32	32	FBN2	A	3	3
SLC27A6	28965	broad.mit.edu	36	5	128330190	128330190	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:128330190G>T	uc003kuy.1	+	c.461G>T	c.(460-462)AGA>ATA	p.R154I	SLC27A6_uc003kuz.1_Missense_Mutation_p.R154I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	154					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)												0.142857	15.40666	26.604276	13	78	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	Missense_Mutation	SNP	128330190	128330190	15027	5	G	T	T	33	33	SLC27A6	T	3	3
SLC6A18	348932	broad.mit.edu	36	5	1293724	1293724	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1293724C>T	uc003jby.1	+	c.924C>T	c.(922-924)TTC>TTT	p.F308F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	308	Helical; Name=7; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)													0.251572	98.616493	107.536804	40	119	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Silent	SNP	1293724	1293724	15178	5	C	T	T	32	32	SLC6A18	T	2	2
SLC6A18	348932	broad.mit.edu	36	5	1295844	1295844	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1295844G>A	uc003jby.1	+	c.997G>A	c.(997-999)GAC>AAC	p.D333N		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	333	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)													0.289308	111.482613	117.811719	46	113	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Missense_Mutation	SNP	1295844	1295844	15178	5	G	A	A	37	37	SLC6A18	A	1	1
HINT1	3094	broad.mit.edu	36	5	130523180	130523180	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:130523180A>G	uc003kve.2	-	c.240T>C	c.(238-240)GTT>GTC	p.V80V	HINT1_uc003kvf.2_Non-coding_Transcript	NM_005340	NP_005331	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	80	HIT.				signal transduction	cytoplasm|cytoskeleton|nucleus	hydrolase activity|protein kinase C binding				0		all_cancers(142;0.0452)|Breast(839;0.198)			Adenosine monophosphate(DB00131)									0.147059	59.523856	83.927367	30	174	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Silent	SNP	130523180	130523180	7396	5	A	G	G	5	5	HINT1	G	4	4
RAPGEF6	51735	broad.mit.edu	36	5	130794523	130794523	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:130794523C>T	uc003kvp.1	-	c.4543G>A	c.(4543-4545)GGC>AGC	p.G1515S	RAPGEF6_uc003kvm.1_Missense_Mutation_p.G388S|RAPGEF6_uc003kvn.1_Missense_Mutation_p.G1465S|RAPGEF6_uc003kvo.1_Missense_Mutation_p.G1478S|RAPGEF6_uc010jdi.1_Missense_Mutation_p.G1473S|RAPGEF6_uc010jdj.1_Missense_Mutation_p.G1473S	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	1465					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3						Melanoma(168;435 1955 13113 13877 23213)								0.188161	201.379905	244.444495	89	384	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	Missense_Mutation	SNP	130794523	130794523	13508	5	C	T	T	24	24	RAPGEF6	T	2	2
RAPGEF6	51735	broad.mit.edu	36	5	130797165	130797165	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:130797165G>C	uc003kvp.1	-	c.3981C>G	c.(3979-3981)AGC>AGG	p.S1327R	RAPGEF6_uc003kvm.1_Missense_Mutation_p.S200R|RAPGEF6_uc003kvn.1_Missense_Mutation_p.S1277R|RAPGEF6_uc003kvo.1_Missense_Mutation_p.S1290R|RAPGEF6_uc010jdi.1_Missense_Mutation_p.S1285R|RAPGEF6_uc010jdj.1_Missense_Mutation_p.S1285R	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	1277	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3						Melanoma(168;435 1955 13113 13877 23213)								0.164706	65.988283	84.131356	28	142	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	Missense_Mutation	SNP	130797165	130797165	13508	5	G	C	C	46	46	RAPGEF6	C	3	3
P4HA2	8974	broad.mit.edu	36	5	131572832	131572832	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:131572832T>G	uc003kwh.1	-	c.801A>C	c.(799-801)GAA>GAC	p.E267D	P4HA2_uc003kwg.1_Missense_Mutation_p.E267D|P4HA2_uc003kwi.1_Missense_Mutation_p.E267D|P4HA2_uc003kwj.1_Missense_Mutation_p.E267D|P4HA2_uc003kwk.1_Missense_Mutation_p.E267D|P4HA2_uc003kwl.1_Missense_Mutation_p.E267D	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	267					oxidation-reduction process	endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)			L-Proline(DB00172)|Succinic acid(DB00139)	Esophageal Squamous(68;117 1135 17362 19256 34242)								0.162963	201.599883	274.506732	110	565	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	131572832	131572832	11770	5	T	G	G	56	56	P4HA2	G	4	4
P4HA2	8974	broad.mit.edu	36	5	131574091	131574091	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:131574091C>A	uc003kwh.1	-	c.494G>T	c.(493-495)AGT>ATT	p.S165I	P4HA2_uc003kwg.1_Missense_Mutation_p.S165I|P4HA2_uc003kwi.1_Missense_Mutation_p.S165I|P4HA2_uc003kwj.1_Missense_Mutation_p.S165I|P4HA2_uc003kwk.1_Missense_Mutation_p.S165I|P4HA2_uc003kwl.1_Missense_Mutation_p.S165I	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	165					oxidation-reduction process	endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)			L-Proline(DB00172)|Succinic acid(DB00139)	Esophageal Squamous(68;117 1135 17362 19256 34242)								0.170336	264.784675	353.528604	147	716	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	131574091	131574091	11770	5	C	A	A	20	20	P4HA2	A	3	3
IRF1	3659	broad.mit.edu	36	5	131849957	131849957	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:131849957C>T	uc003kxa.1	-	c.552G>A	c.(550-552)TCG>TCA	p.S184S	IRF1_uc003kxb.1_Silent_p.S184S|C5orf56_uc010jds.1_Silent_p.G73G|IRF1_uc010jdt.1_Silent_p.S184S	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	184					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)												0.469799	187.822782	187.941395	70	79	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	Silent	SNP	131849957	131849957	8130	5	C	T	T	27	27	IRF1	T	1	1
RAD50	10111	broad.mit.edu	36	5	131952438	131952438	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:131952438A>C	uc003kxi.1	+	c.1212A>C	c.(1210-1212)CAA>CAC	p.Q404H	RAD50_uc003kxh.1_Missense_Mutation_p.Q265H	NM_005732	NP_597816	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	404	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)								407				0.190909	41.677388	51.550066	21	89	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	131952438	131952438	13444	5	A	C	C	3	3	RAD50	C	4	4
IL4	3565	broad.mit.edu	36	5	132046141	132046141	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:132046141C>T	uc003kxk.1	+	c.425C>T	c.(424-426)ACG>ATG	p.T142M	IL4_uc003kxl.1_Missense_Mutation_p.T126M	NM_000589	NP_000580	P05112	IL4_HUMAN	interleukin 4 isoform 1 precursor	142					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding|transcription activator activity|transcription repressor activity				0		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)												0.380952	129.567767	131.13445	48	78	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)	Missense_Mutation	SNP	132046141	132046141	7997	5	C	T	T	19	19	IL4	T	1	1
SEPT8	23176	broad.mit.edu	36	5	132127459	132127459	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:132127459G>A	uc003kxr.2	-	c.372C>T	c.(370-372)ATC>ATT	p.I124I	SEPT8_uc003kxs.1_Silent_p.I124I|SEPT8_uc003kxu.2_Silent_p.I124I|SEPT8_uc003kxv.2_Silent_p.I122I|SEPT8_uc003kxt.2_Silent_p.I64I	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	124					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)										OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.364486	313.185929	318.371711	117	204	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Silent	SNP	132127459	132127459	14556	5	G	A	A	37	37	SEPT8	A	1	1
SHROOM1	134549	broad.mit.edu	36	5	132187077	132187077	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:132187077C>T	uc003kxx.1	-	c.1990G>A	c.(1990-1992)GAC>AAC	p.D664N	SHROOM1_uc003kxy.1_Missense_Mutation_p.D664N	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	664	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1														0.293478	132.975519	140.002277	54	130	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	132187077	132187077	14788	5	C	T	T	30	30	SHROOM1	T	2	2
GDF9	2661	broad.mit.edu	36	5	132225251	132225251	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:132225251T>C	uc003kxz.1	-	c.1294A>G	c.(1294-1296)ATT>GTT	p.I432V		NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	432					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0		all_cancers(142;0.105)|Breast(839;0.198)												0.528409	565.358719	565.606239	186	166	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	132225251	132225251	6587	5	T	C	C	51	51	GDF9	C	4	4
GDF9	2661	broad.mit.edu	36	5	132227795	132227795	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:132227795G>T	uc003kxz.1	-	c.330C>A	c.(328-330)CTC>CTA	p.L110L	UQCRQ_uc003kya.1_5'Flank	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	110					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0		all_cancers(142;0.105)|Breast(839;0.198)												0.367021	346.71332	352.572816	138	238	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Silent	SNP	132227795	132227795	6587	5	G	T	T	33	33	GDF9	T	3	3
HSPA4	3308	broad.mit.edu	36	5	132440477	132440477	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:132440477G>A	uc003kyj.1	+	c.896G>A	c.(895-897)GGA>GAA	p.G299E		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	299					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2						Colon(114;1299 1588 6063 12302 48757)				724				0.318681	154.07847	159.400336	58	124	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	132440477	132440477	7711	5	G	A	A	41	41	HSPA4	A	2	2
FSTL4	23105	broad.mit.edu	36	5	132565592	132565592	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:132565592G>A	uc003kyn.1	-	c.1758C>T	c.(1756-1758)ATC>ATT	p.I586I	FSTL4_uc003kym.1_Silent_p.I235I	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	586						extracellular region	calcium ion binding			central_nervous_system(1)	1		all_cancers(142;0.244)												0.173121	136.253883	180.539548	76	363	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Silent	SNP	132565592	132565592	6330	5	G	A	A	41	41	FSTL4	A	2	2
C5orf15	56951	broad.mit.edu	36	5	133320452	133320452	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:133320452A>C	uc003kyo.1	-	c.795T>G	c.(793-795)TTT>TTG	p.F265L		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein	265	Cytoplasmic (Potential).					integral to membrane					0														0.18932	92.609316	111.203088	39	167	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Missense_Mutation	SNP	133320452	133320452	2381	5	A	C	C	1	1	C5orf15	C	4	4
TCF7	6932	broad.mit.edu	36	5	133502571	133502571	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:133502571C>A	uc003kyt.1	+	c.578C>A	c.(577-579)TCT>TAT	p.S193Y	CDKN2AIPNL_uc003kys.1_Intron|TCF7_uc003kyu.1_Missense_Mutation_p.S78Y|TCF7_uc003kyv.1_Missense_Mutation_p.S78Y|TCF7_uc003kyw.1_Missense_Mutation_p.S78Y|TCF7_uc003kyx.1_De_novo_Start_OutOfFrame|TCF7_uc003kyy.1_Missense_Mutation_p.S78Y|TCF7_uc003kyz.1_Missense_Mutation_p.S78Y|TCF7_uc003kza.1_Missense_Mutation_p.S78Y|TCF7_uc003kzb.1_5'Flank	NM_003202	NP_998813	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	193					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	promoter binding|protein binding|RNA polymerase II transcription factor activity				0		Breast(839;0.058)												0.484472	212.118502	212.153132	78	83	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	133502571	133502571	16222	5	C	A	A	32	32	TCF7	A	3	3
TERT	7015	broad.mit.edu	36	5	1335601	1335601	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1335601T>C	uc003jcb.1	-	c.1712A>G	c.(1711-1713)AAC>AGC	p.N571S	TERT_uc003jbz.1_5'UTR|TERT_uc003jca.1_Missense_Mutation_p.N571S|TERT_uc003jcc.1_Missense_Mutation_p.N571S|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	571					anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase	cytoplasm|nuclear telomere cap complex|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(6)|central_nervous_system(2)|ovary(1)|skin(1)	10	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)									563				0.232394	83.881516	93.221091	33	109	TT		KEEP	---	---	---	---	capture	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Missense_Mutation	SNP	1335601	1335601	16291	5	T	C	C	60	60	TERT	C	4	4
PPP2CA	5515	broad.mit.edu	36	5	133563959	133563959	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:133563959G>A	uc003kze.1	-	c.704C>T	c.(703-705)ACG>ATG	p.T235M	CDKN2AIPNL_uc003kys.1_Intron	NM_002715	NP_002706	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha	235					ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole	metal ion binding|phosphoprotein phosphatase activity			ovary(2)	2					Vitamin E(DB00163)					266				0.407407	151.39588	152.40778	55	80	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	133563959	133563959	12816	5	G	A	A	40	40	PPP2CA	A	1	1
CDKL3	51265	broad.mit.edu	36	5	133729979	133729979	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:133729979T>A	uc003kzf.2	-	c.135A>T	c.(133-135)AAA>AAT	p.K45N	CDKN2AIPNL_uc003kys.1_Intron|CDKL3_uc010jdw.1_Intron|CDKL3_uc003kzg.2_Missense_Mutation_p.K45N	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	45	[NKR]KIAxRE.|Protein kinase.				protein phosphorylation	cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1										391				0.378378	34.638189	35.11919	14	23	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	133729979	133729979	3284	5	T	A	A	64	64	CDKL3	A	4	4
PHF15	23338	broad.mit.edu	36	5	133901670	133901670	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:133901670G>A	uc003kzk.2	+	c.199G>A	c.(199-201)GAG>AAG	p.E67K	PHF15_uc003kzl.2_Missense_Mutation_p.E51K|PHF15_uc003kzm.2_Missense_Mutation_p.E51K|PHF15_uc003kzn.2_Missense_Mutation_p.E51K|PHF15_uc003kzo.1_Missense_Mutation_p.E51K	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	51					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0														0.377049	124.011596	125.633161	46	76	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	133901670	133901670	12249	5	G	A	A	37	37	PHF15	A	1	1
SAR1B	51128	broad.mit.edu	36	5	133970637	133970637	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:133970637C>T	uc003kzq.1	-	c.499G>A	c.(499-501)GAA>AAA	p.E167K	SAR1B_uc003kzr.1_Missense_Mutation_p.E167K	NM_001033503	NP_057187	Q9Y6B6	SAR1B_HUMAN	SAR1a gene homolog 2	167					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding				0														0.537634	630.26857	630.722163	200	172	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	133970637	133970637	14321	5	C	T	T	32	32	SAR1B	T	2	2
SEC24A	10802	broad.mit.edu	36	5	134072411	134072411	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:134072411G>T	uc003kzs.1	+	c.2661G>T	c.(2659-2661)CAG>CAT	p.Q887H		NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	887					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														0.338462	293.033592	300.540712	110	215	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	134072411	134072411	14480	5	G	T	T	34	34	SEC24A	T	3	3
CAMLG	819	broad.mit.edu	36	5	134104925	134104925	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:134104925G>T	uc003kzt.1	+	c.446G>T	c.(445-447)CGC>CTC	p.R149L	CAMLG_uc003kzu.1_Intron	NM_001745	NP_001736	P49069	CAMLG_HUMAN	calcium modulating ligand	149	Cytoplasmic (Potential).				defense response	endoplasmic reticulum|integral to membrane					0					Cyclosporine(DB00091)									0.175	66.21382	86.140579	35	165	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	134104925	134104925	2726	5	G	T	T	38	38	CAMLG	T	3	3
DDX46	9879	broad.mit.edu	36	5	134130547	134130547	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:134130547G>T	uc003kzw.1	+	c.248G>T	c.(247-249)AGA>ATA	p.R83I	DDX46_uc003kzv.1_Intron	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	83	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						Colon(13;391 453 4901 21675 24897)								0.15	19.550718	31.310053	15	85	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		Missense_Mutation	SNP	134130547	134130547	4535	5	G	T	T	33	33	DDX46	T	3	3
DDX46	9879	broad.mit.edu	36	5	134182566	134182566	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:134182566G>A	uc003kzw.1	+	c.2947G>A	c.(2947-2949)GAG>AAG	p.E983K		NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	983					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						Colon(13;391 453 4901 21675 24897)								0.398601	158.143405	159.429895	57	86	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		Missense_Mutation	SNP	134182566	134182566	4535	5	G	A	A	37	37	DDX46	A	1	1
CATSPER3	347732	broad.mit.edu	36	5	134333662	134333662	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:134333662G>A	uc003lag.1	+	c.233G>A	c.(232-234)CGC>CAC	p.R78H		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	78	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1														0.421412	503.970745	506.342031	185	254	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		Missense_Mutation	SNP	134333662	134333662	2808	5	G	A	A	38	38	CATSPER3	A	1	1
CATSPER3	347732	broad.mit.edu	36	5	134371727	134371727	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:134371727C>T	uc003lag.1	+	c.674C>T	c.(673-675)ACG>ATG	p.T225M		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	225					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1														0.150376	30.11864	45.699329	20	113	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		Missense_Mutation	SNP	134371727	134371727	2808	5	C	T	T	19	19	CATSPER3	T	1	1
TERT	7015	broad.mit.edu	36	5	1347345	1347345	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1347345G>A	uc003jcb.1	-	c.656C>T	c.(655-657)CCG>CTG	p.P219L	TERT_uc003jca.1_Missense_Mutation_p.P219L|TERT_uc003jcc.1_Missense_Mutation_p.P219L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	219	RNA-interacting domain 1.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase	cytoplasm|nuclear telomere cap complex|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(6)|central_nervous_system(2)|ovary(1)|skin(1)	10	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)									563				0.363636	22.911615	23.26406	8	14	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Missense_Mutation	SNP	1347345	1347345	16291	5	G	A	A	39	39	TERT	A	1	1
TERT	7015	broad.mit.edu	36	5	1347459	1347459	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1347459G>A	uc003jcb.1	-	c.542C>T	c.(541-543)GCC>GTC	p.A181V	TERT_uc003jca.1_Missense_Mutation_p.A181V|TERT_uc003jcc.1_Missense_Mutation_p.A181V|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	181	RNA-interacting domain 1.|GQ motif.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase	cytoplasm|nuclear telomere cap complex|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(6)|central_nervous_system(2)|ovary(1)|skin(1)	10	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)									563				0.285714	9.097804	9.67271	4	10	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Missense_Mutation	SNP	1347459	1347459	16291	5	G	A	A	42	42	TERT	A	2	2
C5orf20	140947	broad.mit.edu	36	5	134810196	134810196	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:134810196C>T	uc003lav.1	-	c.502G>A	c.(502-504)GAG>AAG	p.E168K		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	dendritic cell nuclear protein 1	168	Ser-rich.					nucleus					0														0.121212	30.502008	67.648852	32	232	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		Missense_Mutation	SNP	134810196	134810196	2382	5	C	T	T	31	31	C5orf20	T	1	1
FBXL21	26223	broad.mit.edu	36	5	135305248	135305248	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:135305248C>T	uc010jec.1	+	c.1294C>T	c.(1294-1296)CCT>TCT	p.P432S	FBXL21_uc003lbc.2_Intron	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	F-box and leucine-rich repeat protein 21	432					rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(1)	1														0.147541	26.767554	41.327284	18	104	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		Missense_Mutation	SNP	135305248	135305248	5955	5	C	T	T	26	26	FBXL21	T	2	2
TRPC7	57113	broad.mit.edu	36	5	135638343	135638343	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:135638343C>T	uc003lbn.1	-	c.1042G>A	c.(1042-1044)GCT>ACT	p.A348T	TRPC7_uc010jef.1_Intron|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Missense_Mutation_p.A279T|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	349	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0														0.528302	80.80268	80.839922	28	25	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		Missense_Mutation	SNP	135638343	135638343	17135	5	C	T	T	27	27	TRPC7	T	1	1
KLHL3	26249	broad.mit.edu	36	5	136991893	136991893	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:136991893C>T	uc010jek.1	-	c.1583G>A	c.(1582-1584)CGC>CAC	p.R528H	KLHL3_uc003lbr.2_Missense_Mutation_p.R446H	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	528	Kelch 5.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)												0.221662	181.009696	209.304463	88	309	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	Missense_Mutation	SNP	136991893	136991893	8696	5	C	T	T	27	27	KLHL3	T	1	1
PKD2L2	27039	broad.mit.edu	36	5	137263231	137263231	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137263231C>A	uc003lby.2	+	c.652C>A	c.(652-654)CTT>ATT	p.L218I	PKD2L2_uc010jep.1_Missense_Mutation_p.L158I|PKD2L2_uc003lbw.1_Missense_Mutation_p.L218I|PKD2L2_uc003lbx.2_Missense_Mutation_p.L218I	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	218	Extracellular (Potential).					integral to membrane	calcium ion binding|ion channel activity				0														0.130952	38.391943	71.781593	33	219	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		Missense_Mutation	SNP	137263231	137263231	12393	5	C	A	A	24	24	PKD2L2	A	3	3
PKD2L2	27039	broad.mit.edu	36	5	137287021	137287021	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137287021C>T	uc003lby.2	+	c.1463C>T	c.(1462-1464)GCA>GTA	p.A488V	PKD2L2_uc003lbw.1_Missense_Mutation_p.A488V|PKD2L2_uc003lbx.2_Missense_Mutation_p.A387V	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	488	Helical; (Potential).					integral to membrane	calcium ion binding|ion channel activity				0														0.167539	50.568487	70.591928	32	159	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		Missense_Mutation	SNP	137287021	137287021	12393	5	C	T	T	25	25	PKD2L2	T	2	2
FAM13B	51306	broad.mit.edu	36	5	137374681	137374681	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137374681G>A	uc003lbz.2	-	c.605C>T	c.(604-606)GCT>GTT	p.A202V	FAM13B_uc003lcb.2_Missense_Mutation_p.A84V|FAM13B_uc003lca.2_Missense_Mutation_p.A202V	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	202	Rho-GAP.|Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0														0.330798	243.220714	249.900884	87	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137374681	137374681	5650	5	G	A	A	34	34	FAM13B	A	2	2
DNAH5	1767	broad.mit.edu	36	5	13745193	13745193	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13745193C>T	uc003jfd.2	-	c.13775G>A	c.(13774-13776)CGA>CAA	p.R4592Q	DNAH5_uc003jfc.2_Missense_Mutation_p.R760Q	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4592					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.4375	195.023362	195.568117	70	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13745193	13745193	4787	5	C	T	T	31	31	DNAH5	T	1	1
WNT8A	7478	broad.mit.edu	36	5	137454329	137454329	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137454329C>A	uc003lcd.1	+	c.724C>A	c.(724-726)CTT>ATT	p.L242I	BRD8_uc003lcc.1_Intron	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	242					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)	1														0.541284	167.412402	167.572238	59	50	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		Missense_Mutation	SNP	137454329	137454329	17970	5	C	A	A	24	24	WNT8A	A	3	3
NME5	8382	broad.mit.edu	36	5	137492134	137492134	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137492134C>T	uc003lce.1	-	c.369G>A	c.(367-369)AGG>AGA	p.R123R	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	123					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0														0.210843	75.728658	88.571656	35	131	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		Silent	SNP	137492134	137492134	10897	5	C	T	T	30	30	NME5	T	2	2
CDC23	8697	broad.mit.edu	36	5	137564700	137564700	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137564700C>A	uc003lcl.1	-	c.649G>T	c.(649-651)GAG>TAG	p.E217*		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	217					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0														0.177165	74.400115	99.365439	45	209	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		Nonsense_Mutation	SNP	137564700	137564700	3189	5	C	A	A	32	32	CDC23	A	5	3
KDM3B	51780	broad.mit.edu	36	5	137789125	137789125	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137789125G>A	uc003lcy.1	+	c.4366G>A	c.(4366-4368)GAT>AAT	p.D1456N	KDM3B_uc010jew.1_Missense_Mutation_p.D1112N	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1456					chromatin modification|oxidation-reduction process|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)|lung(2)|kidney(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9														0.185567	102.270024	129.251872	54	237	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137789125	137789125	8433	5	G	A	A	37	37	KDM3B	A	1	1
REEP2	51308	broad.mit.edu	36	5	137808093	137808093	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137808093C>T	uc003lda.1	+	c.273C>T	c.(271-273)TTC>TTT	p.F91F	REEP2_uc003lcz.1_Silent_p.F91F	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	91						integral to membrane					0														0.145038	26.177015	42.030151	19	112	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		Silent	SNP	137808093	137808093	13674	5	C	T	T	31	31	REEP2	T	1	1
EGR1	1958	broad.mit.edu	36	5	137831051	137831051	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137831051C>T	uc003ldb.1	+	c.1014C>T	c.(1012-1014)TAC>TAT	p.Y338Y		NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	338	C2H2-type 1.				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glomerular metanephric mesangial cell proliferation|regulation of protein sumoylation|type I interferon-mediated signaling pathway	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1														0.339041	239.714674	246.412885	99	193	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		Silent	SNP	137831051	137831051	5160	5	C	T	T	19	19	EGR1	T	1	1
EGR1	1958	broad.mit.edu	36	5	137831261	137831261	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137831261C>T	uc003ldb.1	+	c.1224C>T	c.(1222-1224)AGC>AGT	p.S408S		NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	408	C2H2-type 3.				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glomerular metanephric mesangial cell proliferation|regulation of protein sumoylation|type I interferon-mediated signaling pathway	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1														0.370629	139.431712	141.536728	53	90	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		Silent	SNP	137831261	137831261	5160	5	C	T	T	27	27	EGR1	T	1	1
DNAH5	1767	broad.mit.edu	36	5	13823972	13823972	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13823972A>T	uc003jfd.2	-	c.9491T>A	c.(9490-9492)TTT>TAT	p.F3164Y	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3164	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.194737	66.855502	83.383837	37	153	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13823972	13823972	4787	5	A	T	T	1	1	DNAH5	T	4	4
SIL1	64374	broad.mit.edu	36	5	138390420	138390420	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:138390420G>A	uc003ldm.1	-	c.614C>T	c.(613-615)GCG>GTG	p.A205V	SIL1_uc003ldn.1_Missense_Mutation_p.A204V|SIL1_uc003ldo.1_Missense_Mutation_p.A205V|SIL1_uc003ldp.1_Missense_Mutation_p.A205V|SIL1_uc003ldq.1_Intron	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	205	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0														0.178218	65.180214	84.873141	36	166	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Missense_Mutation	SNP	138390420	138390420	14816	5	G	A	A	38	38	SIL1	A	1	1
DNAH5	1767	broad.mit.edu	36	5	13846692	13846692	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13846692C>A	uc003jfd.2	-	c.8156G>T	c.(8155-8157)AGA>ATA	p.R2719I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2719	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.246006	163.289808	181.704512	77	236	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13846692	13846692	4787	5	C	A	A	32	32	DNAH5	A	3	3
MATR3	9782	broad.mit.edu	36	5	138679297	138679297	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:138679297G>A	uc003ldw.1	+	c.987G>A	c.(985-987)TGG>TGA	p.W329*	MATR3_uc003ldt.1_Non-coding_Transcript|MATR3_uc010jfb.1_Nonsense_Mutation_p.W329*|MATR3_uc003ldu.1_Nonsense_Mutation_p.W329*|MATR3_uc003ldx.1_Nonsense_Mutation_p.W329*|MATR3_uc010jfc.1_Nonsense_Mutation_p.W329*|MATR3_uc003ldy.1_5'UTR|MATR3_uc003ldz.1_Nonsense_Mutation_p.W329*|MATR3_uc003lea.1_Nonsense_Mutation_p.W329*|MATR3_uc003leb.1_5'UTR|MATR3_uc003lec.1_5'UTR	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	329						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1														0.35	173.417499	176.96978	63	117	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Nonsense_Mutation	SNP	138679297	138679297	9721	5	G	A	A	41	41	MATR3	A	5	2
SLC23A1	9963	broad.mit.edu	36	5	138742266	138742266	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:138742266G>A	uc003leg.1	-	c.1092C>T	c.(1090-1092)ATC>ATT	p.I364I	SLC23A1_uc003leh.1_Silent_p.I360I	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	360	Helical; (Potential).				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0					Vitamin C(DB00126)									0.448276	37.169888	37.237671	13	16	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Silent	SNP	138742266	138742266	14959	5	G	A	A	33	33	SLC23A1	A	2	2
DNAJC18	202052	broad.mit.edu	36	5	138792230	138792230	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:138792230G>A	uc003len.1	-	c.269C>T	c.(268-270)TCT>TTT	p.S90F	DNAJC18_uc010jff.1_Missense_Mutation_p.S90F	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	90	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2														0.5	508.545727	508.545727	168	168	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Missense_Mutation	SNP	138792230	138792230	4820	5	G	A	A	33	33	DNAJC18	A	2	2
DNAH5	1767	broad.mit.edu	36	5	13883775	13883775	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13883775C>T	uc003jfd.2	-	c.5992G>A	c.(5992-5994)GGG>AGG	p.G1998R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.458678	339.908312	340.266226	111	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13883775	13883775	4787	5	C	T	T	23	23	DNAH5	T	1	1
TMEM173	340061	broad.mit.edu	36	5	138838140	138838140	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:138838140G>A	uc003lep.1	-	c.658C>T	c.(658-660)CGC>TGC	p.R220C		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	transmembrane protein 173	220	Cytoplasmic (Potential).				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding				0														0.155709	67.006662	99.71865	45	244	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Missense_Mutation	SNP	138838140	138838140	16623	5	G	A	A	37	37	TMEM173	A	1	1
DNAH5	1767	broad.mit.edu	36	5	13915727	13915727	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13915727C>T	uc003jfd.2	-	c.4726G>A	c.(4726-4728)GAC>AAC	p.D1576N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1576	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.453608	257.169884	257.534344	88	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13915727	13915727	4787	5	C	T	T	32	32	DNAH5	T	2	2
PSD2	84249	broad.mit.edu	36	5	139169508	139169508	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139169508G>A	uc003leu.1	+	c.299G>A	c.(298-300)AGG>AAG	p.R100K		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	100					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1														0.150997	89.130339	130.114559	53	298	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	139169508	139169508	13100	5	G	A	A	35	35	PSD2	A	2	2
CLPTM1L	81037	broad.mit.edu	36	5	1392049	1392049	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1392049C>T	uc003jch.1	-	c.525G>A	c.(523-525)GCG>GCA	p.A175A	CLPTM1L_uc003jcg.1_Silent_p.A42A	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	175	Extracellular (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)									276				0.268293	72.528633	78.486586	33	90	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	Silent	SNP	1392049	1392049	3693	5	C	T	T	27	27	CLPTM1L	T	1	1
DNAH5	1767	broad.mit.edu	36	5	13929916	13929916	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13929916C>A	uc003jfd.2	-	c.3273G>T	c.(3271-3273)GAG>GAT	p.E1091D		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1091	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.258278	86.341	94.346491	39	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13929916	13929916	4787	5	C	A	A	32	32	DNAH5	A	3	3
PURA	5813	broad.mit.edu	36	5	139474790	139474790	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139474790G>T	uc003lfa.1	+	c.840G>T	c.(838-840)AAG>AAT	p.K280N		NM_005859	NP_005850	Q00577	PURA_HUMAN	purine-rich element binding protein A	280					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex|nuclear chromosome, telomeric region	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding				0														0.177515	47.942292	64.50898	30	139	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	139474790	139474790	13285	5	G	T	T	33	33	PURA	T	3	3
C5orf32	84418	broad.mit.edu	36	5	139554382	139554382	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139554382G>A	uc003lfd.1	+	c.148G>A	c.(148-150)GGC>AGC	p.G50S	C5orf32_uc010jfi.1_Intron	NM_032412	NP_115788	Q9H1C7	CE032_HUMAN	hypothetical protein LOC84418	50	Pro-rich.										0														0.1875	72.672295	88.766297	33	143	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	139554382	139554382	2389	5	G	A	A	39	39	C5orf32	A	1	1
SLC4A9	83697	broad.mit.edu	36	5	139720661	139720661	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139720661G>A	uc003lfm.2	+	c.383G>A	c.(382-384)AGC>AAC	p.S128N	SLC4A9_uc003lfj.2_Missense_Mutation_p.S104N|SLC4A9_uc003lfl.2_Missense_Mutation_p.S104N|SLC4A9_uc003lfk.2_Missense_Mutation_p.S104N	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	128	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1														0.15	7.420686	12.125085	6	34	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	139720661	139720661	15157	5	G	A	A	34	34	SLC4A9	A	2	2
SLC4A9	83697	broad.mit.edu	36	5	139722271	139722271	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139722271A>C	uc003lfm.2	+	c.849A>C	c.(847-849)GGA>GGC	p.G283G	SLC4A9_uc003lfj.2_Silent_p.G259G|SLC4A9_uc003lfl.2_Silent_p.G259G|SLC4A9_uc003lfk.2_Silent_p.G259G	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	283	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1														0.483193	375.145135	375.205697	115	123	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	139722271	139722271	15157	5	A	C	C	10	10	SLC4A9	C	4	4
ANKHD1-EIF4EBP3	404734	broad.mit.edu	36	5	139842417	139842417	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139842417G>T	uc003lfs.1	+	c.1851G>T	c.(1849-1851)GTG>GTT	p.V617V	ANKHD1_uc003lfq.1_Silent_p.V636V|ANKHD1_uc003lfr.1_Silent_p.V617V|ANKHD1_uc003lft.1_Silent_p.V97V|ANKHD1_uc003lfu.1_Silent_p.V97V|ANKHD1_uc003lfv.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	617						cytoplasm|nucleus	RNA binding			ovary(6)	6														0.381974	250.801426	253.653881	89	144	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	139842417	139842417	632	5	G	T	T	46	46	ANKHD1-EIF4EBP3	T	3	3
ANKHD1-EIF4EBP3	404734	broad.mit.edu	36	5	139869835	139869835	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139869835G>A	uc003lfs.1	+	c.3989G>A	c.(3988-3990)TGG>TAG	p.W1330*	ANKHD1_uc003lfq.1_Nonsense_Mutation_p.W1349*|ANKHD1_uc003lfr.1_Nonsense_Mutation_p.W1330*|ANKHD1_uc003lft.1_Nonsense_Mutation_p.W541*|ANKHD1_uc003lfu.1_Nonsense_Mutation_p.W810*|ANKHD1_uc003lfv.1_Nonsense_Mutation_p.W407*|ANKHD1_uc003lfw.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1330						cytoplasm|nucleus	RNA binding			ovary(6)	6														0.198113	87.721616	105.717383	42	170	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Nonsense_Mutation	SNP	139869835	139869835	632	5	G	A	A	47	47	ANKHD1-EIF4EBP3	A	5	2
ANKHD1-EIF4EBP3	404734	broad.mit.edu	36	5	139888116	139888116	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139888116G>A	uc003lfs.1	+	c.5401G>A	c.(5401-5403)GCT>ACT	p.A1801T	ANKHD1_uc003lfr.1_Missense_Mutation_p.A1801T|ANKHD1_uc003lfw.1_Missense_Mutation_p.A439T|ANKHD1_uc010jfl.1_Missense_Mutation_p.A236T|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1801						cytoplasm|nucleus	RNA binding			ovary(6)	6														0.134615	63.915955	111.084181	49	315	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	139888116	139888116	632	5	G	A	A	34	34	ANKHD1-EIF4EBP3	A	2	2
ANKHD1-EIF4EBP3	404734	broad.mit.edu	36	5	139897257	139897257	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139897257T>A	uc003lfs.1	+	c.7127T>A	c.(7126-7128)ATT>AAT	p.I2376N	ANKHD1_uc003lfr.1_Missense_Mutation_p.I2376N|ANKHD1_uc003lfw.1_Missense_Mutation_p.I1031N|ANKHD1_uc010jfl.1_Missense_Mutation_p.I752N|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.I530N	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2376						cytoplasm|nucleus	RNA binding			ovary(6)	6														0.352423	213.836063	218.193764	80	147	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	139897257	139897257	632	5	T	A	A	52	52	ANKHD1-EIF4EBP3	A	4	4
APBB3	10307	broad.mit.edu	36	5	139920202	139920202	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139920202G>A	uc010jfn.1	-	c.1125C>T	c.(1123-1125)GGC>GGT	p.G375G	SRA1_uc003lfz.1_5'Flank|SRA1_uc010jfm.1_5'Flank|SRA1_uc003lga.1_5'Flank|APBB3_uc003lgb.1_Silent_p.G145G|APBB3_uc003lgc.1_Silent_p.G145G|APBB3_uc003lgd.1_Silent_p.G373G|APBB3_uc003lge.1_Silent_p.G366G|APBB3_uc010jfo.1_Silent_p.G368G|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc010jfq.1_Missense_Mutation_p.P107S	NM_006051	NP_006042	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	368	PID 2.					actin cytoskeleton|cytoplasm				ovary(2)	2														0.213235	56.395362	66.736019	29	107	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	139920202	139920202	772	5	G	A	A	42	42	APBB3	A	2	2
TMCO6	55374	broad.mit.edu	36	5	140003441	140003441	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140003441G>A	uc003lgm.1	+	c.933G>A	c.(931-933)GAG>GAA	p.E311E	TMCO6_uc003lgl.1_Silent_p.E305E|TMCO6_uc010jft.1_Silent_p.E65E|TMCO6_uc003lgn.1_Silent_p.E196E|TMCO6_uc003lgo.1_Silent_p.E65E	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	305					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0														0.407104	399.271887	402.039815	149	217	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140003441	140003441	16530	5	G	A	A	34	34	TMCO6	A	2	2
HARS	3035	broad.mit.edu	36	5	140034901	140034901	+	Missense_Mutation	SNP	G	A	A	rs34732372	by-1000genomes	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140034901G>A	uc003lgv.1	-	c.1196C>T	c.(1195-1197)GCT>GTT	p.A399V	DND1_uc003lgt.1_5'Flank|HARS_uc003lgu.1_Missense_Mutation_p.A330V|HARS_uc003lgw.1_Missense_Mutation_p.A379V|HARS_uc010jfu.1_Intron	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	399					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)	1					L-Histidine(DB00117)									0.334975	175.417557	180.319264	68	135	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140034901	140034901	7241	5	G	A	A	34	34	HARS	A	2	2
PCDHA1	56147	broad.mit.edu	36	5	140146288	140146288	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140146288G>A	uc003lhb.1	+	c.229G>A	c.(229-231)GTA>ATA	p.V77I	PCDHA1_uc003lha.1_Missense_Mutation_p.V77I|PCDHA1_uc003lgz.1_Missense_Mutation_p.V77I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	77	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0														0.351351	303.355411	309.854124	117	216	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140146288	140146288	11939	5	G	A	A	44	44	PCDHA1	A	2	2
PCDHA1	56147	broad.mit.edu	36	5	140146555	140146555	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140146555G>A	uc003lhb.1	+	c.496G>A	c.(496-498)GCT>ACT	p.A166T	PCDHA1_uc003lha.1_Missense_Mutation_p.A166T|PCDHA1_uc003lgz.1_Missense_Mutation_p.A166T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	166	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0														0.204082	111.642248	135.546139	60	234	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140146555	140146555	11939	5	G	A	A	38	38	PCDHA1	A	1	1
PCDHA2	56146	broad.mit.edu	36	5	140156589	140156589	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140156589G>A	uc003lhd.1	+	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R619H	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4														0.537143	255.146033	255.357705	94	81	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140156589	140156589	11944	5	G	A	A	38	38	PCDHA2	A	1	1
PCDHA3	56145	broad.mit.edu	36	5	140163211	140163211	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140163211T>C	uc003lhf.1	+	c.2245T>C	c.(2245-2247)TCA>CCA	p.S749P	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhe.1_Missense_Mutation_p.S749P	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	749	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(5)	5														0.206633	196.352409	227.650725	81	311	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140163211	140163211	11945	5	T	C	C	58	58	PCDHA3	C	4	4
PCDHA4	56144	broad.mit.edu	36	5	140168244	140168244	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140168244G>A	uc003lhi.1	+	c.1288G>A	c.(1288-1290)GGG>AGG	p.G430R	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.G430R|PCDHA4_uc003lhg.1_Missense_Mutation_p.G430R	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	430	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)	4														0.525223	535.562405	535.747591	177	160	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140168244	140168244	11946	5	G	A	A	39	39	PCDHA4	A	1	1
PCDHA4	56144	broad.mit.edu	36	5	140168532	140168532	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140168532G>A	uc003lhi.1	+	c.1576G>A	c.(1576-1578)GAG>AAG	p.E526K	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.E526K|PCDHA4_uc003lhg.1_Missense_Mutation_p.E526K	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	526	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)	4														0.193103	102.224309	127.740683	56	234	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140168532	140168532	11946	5	G	A	A	37	37	PCDHA4	A	1	1
PCDHA4	56144	broad.mit.edu	36	5	140168779	140168779	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140168779C>T	uc003lhi.1	+	c.1823C>T	c.(1822-1824)TCG>TTG	p.S608L	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.S608L|PCDHA4_uc003lhg.1_Missense_Mutation_p.S608L	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	608	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)	4														0.189024	57.138057	71.973729	31	133	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140168779	140168779	11946	5	C	T	T	31	31	PCDHA4	T	1	1
PCDHA4	56144	broad.mit.edu	36	5	140169130	140169130	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140169130C>T	uc003lhi.1	+	c.2174C>T	c.(2173-2175)GCG>GTG	p.A725V	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A725V|PCDHA4_uc003lhg.1_Missense_Mutation_p.A725V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	725	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)	4														0.184971	54.478631	70.614891	32	141	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140169130	140169130	11946	5	C	T	T	27	27	PCDHA4	T	1	1
PCDHA5	56143	broad.mit.edu	36	5	140182012	140182012	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140182012G>A	uc003lhl.1	+	c.468G>A	c.(466-468)GCG>GCA	p.A156A	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A156A|PCDHA5_uc003lhj.1_Silent_p.A156A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	156	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)	2														0.198529	50.942709	62.455763	27	109	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140182012	140182012	11947	5	G	A	A	40	40	PCDHA5	A	1	1
PCDHA5	56143	broad.mit.edu	36	5	140182457	140182457	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140182457G>A	uc003lhl.1	+	c.913G>A	c.(913-915)GGG>AGG	p.G305R	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.G305R|PCDHA5_uc003lhj.1_Missense_Mutation_p.G305R	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	305	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)	2														0.172619	56.784617	73.783911	29	139	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140182457	140182457	11947	5	G	A	A	39	39	PCDHA5	A	1	1
PCDHA8	56140	broad.mit.edu	36	5	140201437	140201437	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140201437T>C	uc003lhs.1	+	c.347T>C	c.(346-348)GTT>GCT	p.V116A	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.V116A	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	116	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding				0														0.112219	56.111039	115.64237	45	356	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140201437	140201437	11950	5	T	C	C	60	60	PCDHA8	C	4	4
PCDHA8	56140	broad.mit.edu	36	5	140202216	140202216	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140202216G>A	uc003lhs.1	+	c.1126G>A	c.(1126-1128)GAC>AAC	p.D376N	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.D376N	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	376	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding				0														0.167979	106.653493	146.495796	64	317	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140202216	140202216	11950	5	G	A	A	37	37	PCDHA8	A	1	1
PCDHA9	9752	broad.mit.edu	36	5	140210184	140210184	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140210184G>A	uc003lhu.1	+	c.1920G>A	c.(1918-1920)ACG>ACA	p.T640T	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lht.1_Silent_p.T640T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	640	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)	4						Melanoma(55;1800 1972 14909)								0.132184	30.409546	53.279402	23	151	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140210184	140210184	11951	5	G	A	A	39	39	PCDHA9	A	1	1
PCDHA10	56139	broad.mit.edu	36	5	140216117	140216117	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140216117G>A	uc003lhx.1	+	c.300G>A	c.(298-300)GAG>GAA	p.E100E	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhw.1_Silent_p.E100E|PCDHA10_uc003lhv.1_Silent_p.E100E	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	100	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|breast(1)	3														0.363158	552.457939	561.85226	207	363	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140216117	140216117	11940	5	G	A	A	36	36	PCDHA10	A	2	2
PCDHA11	56138	broad.mit.edu	36	5	140230806	140230806	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140230806G>A	uc003lia.1	+	c.1934G>A	c.(1933-1935)CGA>CAA	p.R645Q	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lhz.1_Missense_Mutation_p.R645Q	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	645	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1														0.411348	151.711154	152.679463	58	83	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140230806	140230806	11941	5	G	A	A	37	37	PCDHA11	A	1	1
PCDHA12	56137	broad.mit.edu	36	5	140236266	140236266	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140236266A>G	uc003lic.1	+	c.1025A>G	c.(1024-1026)GAC>GGC	p.D342G	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lib.1_Missense_Mutation_p.D342G	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	342	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0						Pancreas(113;759 1672 13322 24104 50104)								0.385787	241.566054	243.814145	76	121	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140236266	140236266	11942	5	A	G	G	10	10	PCDHA12	G	4	4
PCDHA12	56137	broad.mit.edu	36	5	140236366	140236366	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140236366G>A	uc003lic.1	+	c.1125G>A	c.(1123-1125)TCG>TCA	p.S375S	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lib.1_Silent_p.S375S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	375	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0						Pancreas(113;759 1672 13322 24104 50104)								0.205776	117.434226	139.665631	57	220	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140236366	140236366	11942	5	G	A	A	39	39	PCDHA12	A	1	1
PCDHA13	56136	broad.mit.edu	36	5	140242300	140242300	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140242300C>A	uc003lif.1	+	c.263C>A	c.(262-264)TCT>TAT	p.S88Y	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lic.1_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.S88Y|PCDHA13_uc003lid.1_Missense_Mutation_p.S88Y	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	88	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4						Melanoma(147;1739 1852 5500 27947 37288)								0.207055	249.904766	301.835994	135	517	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140242300	140242300	11943	5	C	A	A	32	32	PCDHA13	A	3	3
PCDHAC1	56135	broad.mit.edu	36	5	140287589	140287589	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140287589A>G	uc003lih.1	+	c.928A>G	c.(928-930)ATT>GTT	p.I310V	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lic.1_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.1_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.I310V	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	310	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2														0.234568	174.041611	194.92592	76	248	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140287589	140287589	11952	5	A	G	G	8	8	PCDHAC1	G	4	4
PCDHAC1	56135	broad.mit.edu	36	5	140289056	140289056	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140289056C>T	uc003lih.1	+	c.2395C>T	c.(2395-2397)CGG>TGG	p.R799W	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lic.1_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.1_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R799W	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	799	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2														0.197605	133.275725	161.709329	66	268	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140289056	140289056	11952	5	C	T	T	31	31	PCDHAC1	T	1	1
PCDHB3	56132	broad.mit.edu	36	5	140460640	140460640	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140460640T>C	uc003lio.1	+	c.223T>C	c.(223-225)TTT>CTT	p.F75L		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	75	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2														0.217228	155.526917	175.195481	58	209	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140460640	140460640	11963	5	T	C	C	64	64	PCDHB3	C	4	4
PCDHB3	56132	broad.mit.edu	36	5	140462801	140462801	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140462801T>C	uc003lio.1	+	c.2384T>C	c.(2383-2385)TTC>TCC	p.F795S		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	795	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2														0.298883	332.959838	345.920371	107	251	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140462801	140462801	11963	5	T	C	C	62	62	PCDHB3	C	4	4
PCDHB4	56131	broad.mit.edu	36	5	140483885	140483885	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140483885C>T	uc003lip.1	+	c.2121C>T	c.(2119-2121)TTC>TTT	p.F707F		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	707	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			ovary(1)	1														0.183926	216.136062	276.819011	119	528	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140483885	140483885	11964	5	C	T	T	31	31	PCDHB4	T	1	1
PCDHB5	26167	broad.mit.edu	36	5	140496053	140496053	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140496053G>A	uc003liq.1	+	c.853G>A	c.(853-855)GAT>AAT	p.D285N		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	285	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2														0.199248	210.272124	255.038628	106	426	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140496053	140496053	11965	5	G	A	A	37	37	PCDHB5	A	1	1
PCDHB5	26167	broad.mit.edu	36	5	140496321	140496321	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140496321C>T	uc003liq.1	+	c.1121C>T	c.(1120-1122)TCC>TTC	p.S374F		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	374	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2														0.164794	74.121183	102.617196	44	223	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140496321	140496321	11965	5	C	T	T	30	30	PCDHB5	T	2	2
PCDHB5	26167	broad.mit.edu	36	5	140496803	140496803	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140496803C>T	uc003liq.1	+	c.1603C>T	c.(1603-1605)CGC>TGC	p.R535C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	535	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2														0.347619	192.19481	196.505727	73	137	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140496803	140496803	11965	5	C	T	T	23	23	PCDHB5	T	1	1
PCDHB6	56130	broad.mit.edu	36	5	140511339	140511339	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140511339C>A	uc003lir.1	+	c.1317C>A	c.(1315-1317)GTC>GTA	p.V439V		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	439	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0														0.348534	256.271936	262.514168	107	200	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140511339	140511339	11966	5	C	A	A	32	32	PCDHB6	A	3	3
PCDHB6	56130	broad.mit.edu	36	5	140511595	140511595	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140511595T>G	uc003lir.1	+	c.1573T>G	c.(1573-1575)TTC>GTC	p.F525V		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	525	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0														0.475352	438.019674	438.167918	135	149	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140511595	140511595	11966	5	T	G	G	64	64	PCDHB6	G	4	4
PCDHB6	56130	broad.mit.edu	36	5	140511788	140511788	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140511788C>T	uc003lir.1	+	c.1766C>T	c.(1765-1767)GCG>GTG	p.A589V		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	589	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0														0.210884	59.265318	70.622775	31	116	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140511788	140511788	11966	5	C	T	T	27	27	PCDHB6	T	1	1
PCDHB6	56130	broad.mit.edu	36	5	140512279	140512279	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140512279C>T	uc003lir.1	+	c.2257C>T	c.(2257-2259)CTG>TTG	p.L753L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	753	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0														0.416847	555.657904	558.460406	193	270	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140512279	140512279	11966	5	C	T	T	32	32	PCDHB6	T	2	2
PCDHB7	56129	broad.mit.edu	36	5	140533134	140533134	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140533134C>T	uc003lit.1	+	c.534C>T	c.(532-534)TTC>TTT	p.F178F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	178	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4														0.150289	41.844885	62.120057	26	147	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140533134	140533134	11967	5	C	T	T	30	30	PCDHB7	T	2	2
PCDHB7	56129	broad.mit.edu	36	5	140533791	140533791	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140533791C>T	uc003lit.1	+	c.1191C>T	c.(1189-1191)GTC>GTT	p.V397V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	397	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4														0.388489	142.587284	144.110589	54	85	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140533791	140533791	11967	5	C	T	T	31	31	PCDHB7	T	1	1
PCDHB8	56128	broad.mit.edu	36	5	140539436	140539436	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140539436C>T	uc003liu.1	+	c.1637C>T	c.(1636-1638)GCG>GTG	p.A546V	PCDHB16_uc003liv.1_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	546	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.201987	113.128633	138.056016	61	241	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140539436	140539436	11968	5	C	T	T	27	27	PCDHB8	T	1	1
PCDHB16	57717	broad.mit.edu	36	5	140542847	140542847	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140542847C>T	uc003liv.1	+	c.529C>T	c.(529-531)CAT>TAT	p.H177Y	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	177	Extracellular (Potential).|Cadherin 2.				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														0.47619	192.400052	192.474731	70	77	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140542847	140542847	11961	5	C	T	T	29	29	PCDHB16	T	2	2
PCDHB16	57717	broad.mit.edu	36	5	140544640	140544640	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140544640C>A	uc003liv.1	+	c.2322C>A	c.(2320-2322)TTC>TTA	p.F774L	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	774	Cytoplasmic (Potential).				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														0.164557	60.659139	86.000562	39	198	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140544640	140544640	11961	5	C	A	A	32	32	PCDHB16	A	3	3
PCDHB9	56127	broad.mit.edu	36	5	140547202	140547202	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140547202A>G	uc003liw.1	+	c.126A>G	c.(124-126)GGA>GGG	p.G42G		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	42	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0														0.399254	334.28942	336.662487	107	161	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140547202	140547202	11969	5	A	G	G	12	12	PCDHB9	G	4	4
PCDHB9	56127	broad.mit.edu	36	5	140547477	140547477	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140547477G>A	uc003liw.1	+	c.401G>A	c.(400-402)CGG>CAG	p.R134Q		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	134	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0														0.370892	222.568376	225.688303	79	134	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140547477	140547477	11969	5	G	A	A	39	39	PCDHB9	A	1	1
PCDHB9	56127	broad.mit.edu	36	5	140547732	140547732	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140547732C>A	uc003liw.1	+	c.656C>A	c.(655-657)TCT>TAT	p.S219Y		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	219	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0														0.481343	339.996071	340.079685	129	139	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140547732	140547732	11969	5	C	A	A	32	32	PCDHB9	A	3	3
PCDHB10	56126	broad.mit.edu	36	5	140553038	140553038	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140553038C>T	uc003lix.1	+	c.729C>T	c.(727-729)GCC>GCT	p.A243A		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	243	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.173228	86.131095	111.759413	44	210	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140553038	140553038	11955	5	C	T	T	22	22	PCDHB10	T	2	2
PCDHB10	56126	broad.mit.edu	36	5	140553719	140553719	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140553719C>T	uc003lix.1	+	c.1410C>T	c.(1408-1410)ATC>ATT	p.I470I		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	470	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.14787	79.845926	127.382719	59	340	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140553719	140553719	11955	5	C	T	T	31	31	PCDHB10	T	1	1
PCDHB10	56126	broad.mit.edu	36	5	140553890	140553890	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140553890C>T	uc003lix.1	+	c.1581C>T	c.(1579-1581)TTC>TTT	p.F527F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	527	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.092807	8.225299	80.104574	40	391	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140553890	140553890	11955	5	C	T	T	31	31	PCDHB10	T	1	1
PCDHB10	56126	broad.mit.edu	36	5	140554439	140554439	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140554439C>T	uc003lix.1	+	c.2130C>T	c.(2128-2130)TTC>TTT	p.F710F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	710	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.409524	352.30542	354.559794	129	186	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140554439	140554439	11955	5	C	T	T	31	31	PCDHB10	T	1	1
PCDHB11	56125	broad.mit.edu	36	5	140560167	140560167	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140560167C>A	uc003liy.1	+	c.636C>A	c.(634-636)CTC>CTA	p.L212L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	212	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2														0.389831	237.621173	240.137901	92	144	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140560167	140560167	11956	5	C	A	A	32	32	PCDHB11	A	3	3
PCDHB12	56124	broad.mit.edu	36	5	140569850	140569850	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140569850C>T	uc003liz.1	+	c.1187C>T	c.(1186-1188)TCG>TTG	p.S396L		NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	396	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1														0.301136	127.296087	133.519898	53	123	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140569850	140569850	11957	5	C	T	T	31	31	PCDHB12	T	1	1
PCDHB12	56124	broad.mit.edu	36	5	140570435	140570435	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140570435C>T	uc003liz.1	+	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V		NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	591	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1														0.114713	27.41692	86.042638	46	355	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140570435	140570435	11957	5	C	T	T	27	27	PCDHB12	T	1	1
PCDHB12	56124	broad.mit.edu	36	5	140570684	140570684	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140570684C>T	uc003liz.1	+	c.2021C>T	c.(2020-2022)CCG>CTG	p.P674L		NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	674	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1														0.333333	275.963658	283.887798	107	214	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140570684	140570684	11957	5	C	T	T	23	23	PCDHB12	T	1	1
PCDHB13	56123	broad.mit.edu	36	5	140574891	140574891	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140574891G>T	uc003lja.1	+	c.1012G>T	c.(1012-1014)GTG>TTG	p.V338L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	338	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.382838	646.923138	654.228117	232	374	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140574891	140574891	11958	5	G	T	T	36	36	PCDHB13	T	3	3
PCDHB14	56122	broad.mit.edu	36	5	140583312	140583312	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140583312C>A	uc003ljb.1	+	c.51C>A	c.(49-51)TTC>TTA	p.F17L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	17					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						Ovarian(141;50 1831 27899 33809 37648)								0.53913	171.868271	172.024869	62	53	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140583312	140583312	11959	5	C	A	A	30	30	PCDHB14	A	3	3
PCDHB14	56122	broad.mit.edu	36	5	140583487	140583487	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140583487C>A	uc003ljb.1	+	c.226C>A	c.(226-228)CAC>AAC	p.H76N		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	76	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						Ovarian(141;50 1831 27899 33809 37648)								0.139588	83.365069	138.236467	61	376	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140583487	140583487	11959	5	C	A	A	25	25	PCDHB14	A	3	3
PCDHB14	56122	broad.mit.edu	36	5	140585385	140585385	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140585385C>T	uc003ljb.1	+	c.2124C>T	c.(2122-2124)TTC>TTT	p.F708F		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	708	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						Ovarian(141;50 1831 27899 33809 37648)								0.498276	829.226959	829.228553	289	291	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140585385	140585385	11959	5	C	T	T	31	31	PCDHB14	T	1	1
PCDHB15	56121	broad.mit.edu	36	5	140606401	140606401	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140606401C>T	uc003lje.1	+	c.1071C>T	c.(1069-1071)CCC>CCT	p.P357P		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	357	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4														0.214286	143.703925	166.909129	66	242	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140606401	140606401	11960	5	C	T	T	23	23	PCDHB15	T	1	1
TAF7	6879	broad.mit.edu	36	5	140679069	140679069	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140679069C>A	uc003ljg.1	-	c.727G>T	c.(727-729)GAT>TAT	p.D243Y		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	243					negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of histone acetylation|negative regulation of protein kinase activity|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	general RNA polymerase II transcription factor activity|histone acetyltransferase binding|promoter binding|specific transcriptional repressor activity|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding				0														0.142857	88.75764	149.911406	71	426	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140679069	140679069	16053	5	C	A	A	32	32	TAF7	A	3	3
TAF7	6879	broad.mit.edu	36	5	140679293	140679293	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140679293C>T	uc003ljg.1	-	c.503G>A	c.(502-504)CGA>CAA	p.R168Q		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	168					negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of histone acetylation|negative regulation of protein kinase activity|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	general RNA polymerase II transcription factor activity|histone acetyltransferase binding|promoter binding|specific transcriptional repressor activity|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding				0														0.134969	54.457954	96.622938	44	282	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140679293	140679293	16053	5	C	T	T	31	31	TAF7	T	1	1
PCDHGA1	56114	broad.mit.edu	36	5	140691079	140691079	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140691079C>A	uc003lji.1	+	c.644C>A	c.(643-645)TCT>TAT	p.S215Y	PCDHGA1_uc003ljh.1_Missense_Mutation_p.S215Y	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	215	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3														0.188235	57.386296	72.869004	32	138	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140691079	140691079	11970	5	C	A	A	32	32	PCDHGA1	A	3	3
PCDHGA1	56114	broad.mit.edu	36	5	140691493	140691493	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140691493C>T	uc003lji.1	+	c.1058C>T	c.(1057-1059)ACC>ATC	p.T353I	PCDHGA1_uc003ljh.1_Missense_Mutation_p.T353I	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	353	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3														0.151163	40.229355	60.290756	26	146	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140691493	140691493	11970	5	C	T	T	18	18	PCDHGA1	T	2	2
PCDHGA3	56112	broad.mit.edu	36	5	140705518	140705518	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140705518G>A	uc003ljm.1	+	c.1734G>A	c.(1732-1734)GCG>GCA	p.A578A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A338A|PCDHGA3_uc003ljl.1_Silent_p.A578A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	578	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1														0.184211	127.964513	166.991284	77	341	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140705518	140705518	11975	5	G	A	A	38	38	PCDHGA3	A	1	1
PCDHGA3	56112	broad.mit.edu	36	5	140706114	140706114	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140706114A>G	uc003ljm.1	+	c.2330A>G	c.(2329-2331)GAC>GGC	p.D777G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.D537G|PCDHGA3_uc003ljl.1_Missense_Mutation_p.D777G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	777	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1														0.196787	111.89936	133.294013	49	200	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140706114	140706114	11975	5	A	G	G	10	10	PCDHGA3	G	4	4
PCDHGB1	56104	broad.mit.edu	36	5	140712267	140712267	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140712267T>G	uc003ljo.1	+	c.2256T>G	c.(2254-2256)ATT>ATG	p.I752M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc003ljn.1_Missense_Mutation_p.I752M|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	752	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.166667	84.618702	108.627546	38	190	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140712267	140712267	11982	5	T	G	G	63	63	PCDHGB1	G	4	4
PCDHGB1	56104	broad.mit.edu	36	5	140712406	140712406	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140712406T>G	uc003ljo.1	+	c.2395T>G	c.(2395-2397)TCT>GCT	p.S799A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc003ljn.1_Missense_Mutation_p.S799A|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	799	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.204545	21.661472	25.216795	9	35	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140712406	140712406	11982	5	T	G	G	62	62	PCDHGB1	G	4	4
PCDHGA4	56111	broad.mit.edu	36	5	140716859	140716859	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140716859C>T	uc003ljq.1	+	c.1908C>T	c.(1906-1908)GAC>GAT	p.D636D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.D636D	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	636	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.114583	7.343023	21.448335	11	85	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140716859	140716859	11976	5	C	T	T	19	19	PCDHGA4	T	1	1
PCDHGB3	56102	broad.mit.edu	36	5	140730209	140730209	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140730209C>A	uc003ljw.1	+	c.64C>A	c.(64-66)CTC>ATC	p.L22I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljv.1_Missense_Mutation_p.L22I	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	22					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.172662	40.401993	54.508852	24	115	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140730209	140730209	11984	5	C	A	A	28	28	PCDHGB3	A	3	3
PCDHGB3	56102	broad.mit.edu	36	5	140730481	140730481	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140730481G>A	uc003ljw.1	+	c.336G>A	c.(334-336)AAG>AAA	p.K112K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljv.1_Silent_p.K112K	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	112	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.4	470.130904	473.999313	176	264	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140730481	140730481	11984	5	G	A	A	34	34	PCDHGB3	A	2	2
PCDHGB3	56102	broad.mit.edu	36	5	140731863	140731863	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140731863C>T	uc003ljw.1	+	c.1718C>T	c.(1717-1719)GCG>GTG	p.A573V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc003ljv.1_Missense_Mutation_p.A573V|PCDHGA6_uc003ljx.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	573	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.195652	46.344071	58.274297	27	111	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140731863	140731863	11984	5	C	T	T	27	27	PCDHGB3	T	1	1
PCDHGA6	56109	broad.mit.edu	36	5	140734222	140734222	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140734222A>G	uc003ljy.1	+	c.388A>G	c.(388-390)ACA>GCA	p.T130A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljx.1_Missense_Mutation_p.T130A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	130	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1														0.178571	94.197484	115.951152	40	184	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140734222	140734222	11978	5	A	G	G	14	14	PCDHGA6	G	4	4
PCDHGA6	56109	broad.mit.edu	36	5	140735185	140735185	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140735185A>G	uc003ljy.1	+	c.1351A>G	c.(1351-1353)ACC>GCC	p.T451A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljx.1_Missense_Mutation_p.T451A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	451	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1														0.168981	135.386075	180.313942	73	359	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140735185	140735185	11978	5	A	G	G	6	6	PCDHGA6	G	4	4
PCDHGA6	56109	broad.mit.edu	36	5	140735454	140735454	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140735454G>A	uc003ljy.1	+	c.1620G>A	c.(1618-1620)CCG>CCA	p.P540P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljx.1_Silent_p.P540P	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	540	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1														0.217842	201.551583	236.928624	105	377	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140735454	140735454	11978	5	G	A	A	38	38	PCDHGA6	A	1	1
PCDHGA6	56109	broad.mit.edu	36	5	140735717	140735717	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140735717C>T	uc003ljy.1	+	c.1883C>T	c.(1882-1884)ACG>ATG	p.T628M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljx.1_Missense_Mutation_p.T628M	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	628	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1														0.430693	232.219486	233.057846	87	115	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140735717	140735717	11978	5	C	T	T	19	19	PCDHGA6	T	1	1
PCDHGA7	56108	broad.mit.edu	36	5	140742864	140742864	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140742864A>G	uc003lka.1	+	c.214A>G	c.(214-216)ACG>GCG	p.T72A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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.T72A	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	72	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.334884	213.340035	218.523823	72	143	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140742864	140742864	11979	5	A	G	G	10	10	PCDHGA7	G	4	4
PCDHGA7	56108	broad.mit.edu	36	5	140743726	140743726	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140743726A>G	uc003lka.1	+	c.1076A>G	c.(1075-1077)GAC>GGC	p.D359G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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.D359G	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	359	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.153153	33.211134	45.97741	17	94	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140743726	140743726	11979	5	A	G	G	10	10	PCDHGA7	G	4	4
PCDHGB4	8641	broad.mit.edu	36	5	140748658	140748658	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140748658C>T	uc003lkc.1	+	c.1023C>T	c.(1021-1023)AAC>AAT	p.N341N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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_uc010jfy.1_Silent_p.N341N	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	341	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.243902	86.729231	96.526932	40	124	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140748658	140748658	11985	5	C	T	T	19	19	PCDHGB4	T	1	1
PCDHGB4	8641	broad.mit.edu	36	5	140748897	140748897	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140748897C>T	uc003lkc.1	+	c.1262C>T	c.(1261-1263)ACG>ATG	p.T421M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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|PCDHGA8_uc003lkd.1_5'Flank|PCDHGB4_uc010jfy.1_Missense_Mutation_p.T421M|PCDHGA8_uc003lkb.2_5'Flank	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	421	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.567568	522.638988	523.96143	189	144	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140748897	140748897	11985	5	C	T	T	19	19	PCDHGB4	T	1	1
PCDHGA8	9708	broad.mit.edu	36	5	140753228	140753228	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140753228C>T	uc003lkd.1	+	c.664C>T	c.(664-666)CGC>TGC	p.R222C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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.2_Missense_Mutation_p.R222C	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	222	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.417219	164.784495	165.689504	63	88	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140753228	140753228	11980	5	C	T	T	31	31	PCDHGA8	T	1	1
PCDHGA8	9708	broad.mit.edu	36	5	140753808	140753808	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140753808T>C	uc003lkd.1	+	c.1244T>C	c.(1243-1245)GTC>GCC	p.V415A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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.2_Missense_Mutation_p.V415A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	415	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.485294	110.274924	110.287498	33	35	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140753808	140753808	11980	5	T	C	C	58	58	PCDHGA8	C	4	4
PCDHGA8	9708	broad.mit.edu	36	5	140754894	140754894	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140754894A>G	uc003lkd.1	+	c.2330A>G	c.(2329-2331)GAC>GGC	p.D777G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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|PCDHGB5_uc003lkf.1_5'Flank|PCDHGA8_uc003lkb.2_Missense_Mutation_p.D777G|PCDHGB5_uc003lke.1_5'Flank	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	777	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.164948	67.788342	88.449327	32	162	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140754894	140754894	11980	5	A	G	G	10	10	PCDHGA8	G	4	4
PCDHGB6	56100	broad.mit.edu	36	5	140768160	140768160	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140768160C>T	uc003lkj.1	+	c.207C>T	c.(205-207)AGC>AGT	p.S69S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.S69S	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	69	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.300699	97.916918	102.966613	43	100	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140768160	140768160	11987	5	C	T	T	27	27	PCDHGB6	T	1	1
PCDHGB6	56100	broad.mit.edu	36	5	140770099	140770099	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140770099C>T	uc003lkj.1	+	c.2146C>T	c.(2146-2148)CGA>TGA	p.R716*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Nonsense_Mutation_p.R716*	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	716	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.535484	474.125133	474.462175	166	144	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Nonsense_Mutation	SNP	140770099	140770099	11987	5	C	T	T	27	27	PCDHGB6	T	5	1
PCDHGA10	56106	broad.mit.edu	36	5	140774535	140774535	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140774535A>G	uc003lkl.1	+	c.1609A>G	c.(1609-1611)ACA>GCA	p.T537A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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_uc003lkk.1_Missense_Mutation_p.T537A|PCDHGB7_uc003lkm.1_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	537	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.158798	138.403808	190.079696	74	392	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140774535	140774535	11971	5	A	G	G	10	10	PCDHGA10	G	4	4
PCDHGA10	56106	broad.mit.edu	36	5	140774850	140774850	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140774850C>T	uc003lkl.1	+	c.1924C>T	c.(1924-1926)CTC>TTC	p.L642F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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_uc003lkk.1_Missense_Mutation_p.L642F|PCDHGB7_uc003lkm.1_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	642	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.393574	261.670456	264.146392	98	151	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140774850	140774850	11971	5	C	T	T	28	28	PCDHGA10	T	2	2
PCDHGB7	56099	broad.mit.edu	36	5	140779126	140779126	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140779126T>C	uc003lkn.1	+	c.1516T>C	c.(1516-1518)TCC>CCC	p.S506P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.1_Missense_Mutation_p.S506P|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	506	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.199248	132.653989	155.015603	53	213	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140779126	140779126	11988	5	T	C	C	58	58	PCDHGB7	C	4	4
PCDHGB7	56099	broad.mit.edu	36	5	140779273	140779273	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140779273C>T	uc003lkn.1	+	c.1663C>T	c.(1663-1665)CGT>TGT	p.R555C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.1_Missense_Mutation_p.R555C|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	555	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.575758	175.652653	176.170356	57	42	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140779273	140779273	11988	5	C	T	T	23	23	PCDHGB7	T	1	1
PCDHGA11	56105	broad.mit.edu	36	5	140781666	140781666	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140781666C>T	uc003lkq.1	+	c.688C>T	c.(688-690)CGT>TGT	p.R230C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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_uc003lko.1_Missense_Mutation_p.R230C|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R230C	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	230	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.402214	296.061375	298.312945	109	162	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140781666	140781666	11972	5	C	T	T	31	31	PCDHGA11	T	1	1
PCDHGA11	56105	broad.mit.edu	36	5	140782290	140782290	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140782290C>A	uc003lkq.1	+	c.1312C>A	c.(1312-1314)CAT>AAT	p.H438N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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_uc003lko.1_Missense_Mutation_p.H438N|PCDHGA11_uc003lkp.1_Missense_Mutation_p.H438N	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	438	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.198413	140.777405	172.820087	75	303	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140782290	140782290	11972	5	C	A	A	29	29	PCDHGA11	A	3	3
PCDHGC3	5098	broad.mit.edu	36	5	140836271	140836271	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140836271T>C	uc003lkv.1	+	c.404T>C	c.(403-405)TTC>TCC	p.F135S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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_uc003lku.1_Missense_Mutation_p.F135S|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	135	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.600791	527.316461	529.561921	152	101	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140836271	140836271	11989	5	T	C	C	62	62	PCDHGC3	C	4	4
PCDHGC4	56098	broad.mit.edu	36	5	140845209	140845209	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140845209G>A	uc003lky.1	+	c.285G>A	c.(283-285)CTG>CTA	p.L95L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.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_uc003lkx.1_Silent_p.L95L	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	95	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4														0.154589	43.952788	67.57829	32	175	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140845209	140845209	11990	5	G	A	A	48	48	PCDHGC4	A	2	2
DIAPH1	1729	broad.mit.edu	36	5	140883953	140883953	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140883953C>T	uc003llb.2	-	c.3602G>A	c.(3601-3603)AGT>AAT	p.S1201N	DIAPH1_uc003llc.2_Missense_Mutation_p.S1192N|DIAPH1_uc010jga.1_Missense_Mutation_p.S1201N|DIAPH1_uc010jgb.1_Missense_Mutation_p.S1192N|DIAPH1_uc010jfz.1_Missense_Mutation_p.S40N	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	1201	DAD.				sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding				0														0.545872	368.543621	368.944427	119	99	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140883953	140883953	4697	5	C	T	T	20	20	DIAPH1	T	2	2
DIAPH1	1729	broad.mit.edu	36	5	140937244	140937244	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140937244C>T	uc003llb.2	-	c.1262G>A	c.(1261-1263)CGA>CAA	p.R421Q	DIAPH1_uc003llc.2_Missense_Mutation_p.R412Q|DIAPH1_uc010jga.1_Missense_Mutation_p.R421Q|DIAPH1_uc010jgb.1_Missense_Mutation_p.R412Q	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	421	GBD/FH3.				sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding				0														0.424419	407.975727	409.692885	146	198	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140937244	140937244	4697	5	C	T	T	31	31	DIAPH1	T	1	1
HDAC3	8841	broad.mit.edu	36	5	140987642	140987642	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140987642A>G	uc003llf.2	-	c.830_splice	c.e10+1	p.G277_splice	HDAC3_uc003lle.1_Splice_Site_SNP_p.G220_splice	NM_003883	NP_003874			histone deacetylase 3						anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of JNK cascade|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding|transcription repressor activity			ovary(1)	1					Vorinostat(DB02546)					122				0.189091	108.338984	133.234971	52	223	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Splice_Site_SNP	SNP	140987642	140987642	7291	5	A	G	G	6	6	HDAC3	G	5	4
FCHSD1	89848	broad.mit.edu	36	5	141002770	141002770	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141002770C>T	uc003llk.1	-	c.1933G>A	c.(1933-1935)GCA>ACA	p.A645T	FCHSD1_uc010jgg.1_Missense_Mutation_p.A328T|FCHSD1_uc003llj.1_Intron	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	645	Pro-rich.								FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4														0.619048	35.166328	35.424662	13	8	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	141002770	141002770	6026	5	C	T	T	25	25	FCHSD1	T	2	2
FCHSD1	89848	broad.mit.edu	36	5	141006935	141006935	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141006935A>G	uc003llk.1	-	c.875T>C	c.(874-876)GTA>GCA	p.V292A	FCHSD1_uc010jgg.1_5'UTR|FCHSD1_uc003llj.1_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	292									FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4														0.451613	48.150118	48.212776	14	17	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	141006935	141006935	6026	5	A	G	G	14	14	FCHSD1	G	4	4
FCHSD1	89848	broad.mit.edu	36	5	141010109	141010109	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141010109C>T	uc003llk.1	-	c.165_splice	c.e3+1	p.Q55_splice	FCHSD1_uc010jgg.1_5'Flank|FCHSD1_uc003llj.1_Splice_Site_SNP	NM_033449	NP_258260			FCH and double SH3 domains 1										FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4														0.189744	65.662648	83.228222	37	158	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Splice_Site_SNP	SNP	141010109	141010109	6026	5	C	T	T	18	18	FCHSD1	T	5	2
ARAP3	64411	broad.mit.edu	36	5	141016316	141016316	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141016316C>T	uc003llm.1	-	c.3728G>A	c.(3727-3729)CGC>CAC	p.R1243H	ARAP3_uc003lln.1_Missense_Mutation_p.R1074H|ARAP3_uc003lll.1_Missense_Mutation_p.R194H	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1243	PH 3.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7														0.563636	87.619716	87.812736	31	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141016316	141016316	851	5	C	T	T	27	27	ARAP3	T	1	1
ARAP3	64411	broad.mit.edu	36	5	141039754	141039754	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141039754C>T	uc003llm.1	-	c.484G>A	c.(484-486)GGC>AGC	p.G162S	ARAP3_uc003lln.1_Missense_Mutation_p.G84S|ARAP3_uc003llo.1_Missense_Mutation_p.G162S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	162					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7														0.52686	803.729675	804.032738	255	229	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141039754	141039754	851	5	C	T	T	23	23	ARAP3	T	1	1
PCDH1	5097	broad.mit.edu	36	5	141217088	141217088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141217088G>A	uc003llp.1	-	c.3232C>T	c.(3232-3234)CGA>TGA	p.R1078*		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)				Ovarian(132;1609 1739 4190 14731 45037)								0.341935	137.068704	140.47104	53	102	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	Nonsense_Mutation	SNP	141217088	141217088	11926	5	G	A	A	37	37	PCDH1	A	5	1
PCDH12	51294	broad.mit.edu	36	5	141316793	141316793	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141316793C>A	uc003llx.1	-	c.808G>T	c.(808-810)GAC>TAC	p.D270Y		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	270	Extracellular (Potential).|Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)												0.178261	67.012596	89.457615	41	189	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	141316793	141316793	11930	5	C	A	A	32	32	PCDH12	A	3	3
NDFIP1	80762	broad.mit.edu	36	5	141504325	141504325	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141504325C>A	uc003lmi.2	+	c.568C>A	c.(568-570)CTC>ATC	p.L190I	NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	190	Helical; (Potential).				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity				0		all_hematologic(541;0.0999)												0.143921	72.946242	122.200526	58	345	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	141504325	141504325	10644	5	C	A	A	32	32	NDFIP1	A	3	3
ARHGAP26	23092	broad.mit.edu	36	5	142373849	142373849	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:142373849G>A	uc003lmu.1	+	c.1119G>A	c.(1117-1119)TCG>TCA	p.S373S	ARHGAP26_uc003lmt.1_Silent_p.S373S	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	373					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)								831				0.544218	237.303118	237.552648	80	67	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Silent	SNP	142373849	142373849	887	5	G	A	A	37	37	ARHGAP26	A	1	1
NR3C1	2908	broad.mit.edu	36	5	142669918	142669918	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:142669918G>A	uc003lmy.1	-	c.1408C>T	c.(1408-1410)CGA>TGA	p.R470*	NR3C1_uc003lmz.1_Nonsense_Mutation_p.R469*|NR3C1_uc003lna.1_Nonsense_Mutation_p.R469*|NR3C1_uc003lnb.1_Nonsense_Mutation_p.R469*|NR3C1_uc003lnc.1_Nonsense_Mutation_p.R469*|NR3C1_uc003lnd.1_Nonsense_Mutation_p.R469*|NR3C1_uc003lne.1_Nonsense_Mutation_p.R469*|NR3C1_uc003lnf.1_Nonsense_Mutation_p.R470*	NM_001024094	NP_001019265	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1	469	NR C4-type.|Nuclear receptor.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)			Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)					285				0.193548	57.858373	71.451688	30	125	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Nonsense_Mutation	SNP	142669918	142669918	11035	5	G	A	A	37	37	NR3C1	A	5	1
TRIO	7204	broad.mit.edu	36	5	14389754	14389754	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:14389754G>A	uc003jff.1	+	c.1964G>A	c.(1963-1965)CGG>CAG	p.R655Q	TRIO_uc003jfg.1_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.R304Q	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	655					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|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)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.191667	50.154609	60.813105	23	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14389754	14389754	17102	5	G	A	A	39	39	TRIO	A	1	1
TRIO	7204	broad.mit.edu	36	5	14434265	14434265	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:14434265C>T	uc003jff.1	+	c.3474C>T	c.(3472-3474)GGC>GGT	p.G1158G	TRIO_uc003jfg.1_Non-coding_Transcript|TRIO_uc003jfh.1_Silent_p.G807G	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1158	Spectrin 4.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|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)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)								p.E1159*(NCIH1373-Tumor)	1300				0.351111	202.053135	206.454384	79	146	CC		KEEP	---	---	---	---	capture			Silent	SNP	14434265	14434265	17102	5	C	T	T	27	27	TRIO	T	1	1
TRIO	7204	broad.mit.edu	36	5	14447221	14447221	+	Missense_Mutation	SNP	G	T	T	rs3205414	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:14447221G>T	uc003jff.1	+	c.4293G>T	c.(4291-4293)AAG>AAT	p.K1431N	TRIO_uc003jfg.1_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.K1080N	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1431	DH 1.			K->A: Loss of nucleotide exchange activity.	apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|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)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.132812	26.299079	43.045608	17	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14447221	14447221	17102	5	G	T	T	36	36	TRIO	T	3	3
TRIO	7204	broad.mit.edu	36	5	14459000	14459000	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:14459000G>A	uc003jff.1	+	c.4760G>A	c.(4759-4761)CGC>CAC	p.R1587H	TRIO_uc003jfg.1_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.R1236H	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1587	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|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)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.231405	58.132945	66.136756	28	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14459000	14459000	17102	5	G	A	A	38	38	TRIO	A	1	1
PRELID2	153768	broad.mit.edu	36	5	145124699	145124699	+	Nonstop_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:145124699A>G	uc003lnp.1	-	c.568T>C	c.(568-570)TAA>CAA	p.*190Q	PRELID2_uc003lnq.1_Nonstop_Mutation_p.*178Q|PRELID2_uc003lno.1_Nonstop_Mutation_p.*149Q	NM_182960	NP_892005	Q8N945	PRLD2_HUMAN	PRELI domain containing 2 isoform a	190											0														0.174242	54.093601	67.271313	23	109	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Nonstop_Mutation	SNP	145124699	145124699	12915	5	A	G	G	16	16	PRELID2	G	5	4
GRXCR2	643226	broad.mit.edu	36	5	145232608	145232608	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:145232608C>T	uc003lns.1	-	c.117G>A	c.(115-117)GGG>GGA	p.G39G		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	39											0														0.464455	548.75981	549.221982	196	226	CC		KEEP	---	---	---	---	capture			Silent	SNP	145232608	145232608	7093	5	C	T	T	26	26	GRXCR2	T	2	2
SH3RF2	153769	broad.mit.edu	36	5	145360006	145360006	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:145360006C>T	uc003lnt.1	+	c.571C>T	c.(571-573)CTC>TTC	p.L191F		NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	191	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)	1														0.215385	62.235475	71.951741	28	102	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	145360006	145360006	14751	5	C	T	T	28	28	SH3RF2	T	2	2
LARS	51520	broad.mit.edu	36	5	145527892	145527892	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:145527892C>A	uc003lnx.1	-	c.424G>T	c.(424-426)GGA>TGA	p.G142*		NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	142					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0					L-Leucine(DB00149)									0.380368	167.994967	170.046654	62	101	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Nonsense_Mutation	SNP	145527892	145527892	8957	5	C	A	A	24	24	LARS	A	5	3
RBM27	54439	broad.mit.edu	36	5	145645741	145645741	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:145645741C>T	uc003lnz.2	+	c.3138C>T	c.(3136-3138)GAC>GAT	p.D1046D		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1046					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3														0.487603	336.920052	336.952874	118	124	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Silent	SNP	145645741	145645741	13589	5	C	T	T	19	19	RBM27	T	1	1
POU4F3	5459	broad.mit.edu	36	5	145699659	145699659	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:145699659T>C	uc003loa.1	+	c.476T>C	c.(475-477)ATG>ACG	p.M159T		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	159					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.179012	56.394679	72.091325	29	133	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	145699659	145699659	12710	5	T	C	C	51	51	POU4F3	C	4	4
TCERG1	10915	broad.mit.edu	36	5	145858423	145858423	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:145858423C>T	uc003lob.1	+	c.2363C>T	c.(2362-2364)TCG>TTG	p.S788L	TCERG1_uc003loc.1_Missense_Mutation_p.S767L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	788					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|RNA polymerase II transcription factor activity|transcription coactivator activity				0		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)												0.323308	107.161233	110.857064	43	90	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	145858423	145858423	16211	5	C	T	T	31	31	TCERG1	T	1	1
TCERG1	10915	broad.mit.edu	36	5	145863697	145863697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:145863697C>T	uc003lob.1	+	c.2665C>T	c.(2665-2667)CGA>TGA	p.R889*	TCERG1_uc003loc.1_Nonsense_Mutation_p.R868*	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	889	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|RNA polymerase II transcription factor activity|transcription coactivator activity				0		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)												0.185022	72.805883	93.949405	42	185	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Nonsense_Mutation	SNP	145863697	145863697	16211	5	C	T	T	31	31	TCERG1	T	5	1
PPP2R2B	5521	broad.mit.edu	36	5	146010331	146010331	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:146010331C>T	uc003loi.2	-	c.606G>A	c.(604-606)TGG>TGA	p.W202*	PPP2R2B_uc003loe.1_Nonsense_Mutation_p.W199*|PPP2R2B_uc010jgm.1_Nonsense_Mutation_p.W188*|PPP2R2B_uc003log.2_Nonsense_Mutation_p.W199*|PPP2R2B_uc003lof.2_Nonsense_Mutation_p.W199*|PPP2R2B_uc003loh.2_Nonsense_Mutation_p.W199*|PPP2R2B_uc003loj.2_Nonsense_Mutation_p.W179*|PPP2R2B_uc003lok.2_Nonsense_Mutation_p.W188*	NM_181676	NP_858062	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	199	WD 3.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1														0.440994	203.395725	203.885257	71	90	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Nonsense_Mutation	SNP	146010331	146010331	12821	5	C	T	T	30	30	PPP2R2B	T	5	2
SLC6A3	6531	broad.mit.edu	36	5	1462928	1462928	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1462928C>T	uc003jck.2	-	c.1306G>A	c.(1306-1308)GAT>AAT	p.D436N		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	436					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6					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)									0.404494	197.357529	198.778359	72	106	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Missense_Mutation	SNP	1462928	1462928	15182	5	C	T	T	31	31	SLC6A3	T	1	1
FAM105A	54491	broad.mit.edu	36	5	14655293	14655293	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:14655293C>T	uc003jfj.1	+	c.350C>T	c.(349-351)GCT>GTT	p.A117V		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	hypothetical protein LOC54491	117										ovary(1)	1	Lung NSC(4;0.00592)													0.146667	15.77186	24.775481	11	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14655293	14655293	5584	5	C	T	T	28	28	FAM105A	T	2	2
DPYSL3	1809	broad.mit.edu	36	5	146765468	146765468	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:146765468A>G	uc003loo.2	-	c.1051T>C	c.(1051-1053)TTC>CTC	p.F351L	DPYSL3_uc003lon.1_Missense_Mutation_p.F237L	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	237					axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1														0.291096	473.897524	496.752247	170	414	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	146765468	146765468	4932	5	A	G	G	2	2	DPYSL3	G	4	4
JAKMIP2	9832	broad.mit.edu	36	5	147021012	147021012	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:147021012G>A	uc010jgo.1	-	c.319C>T	c.(319-321)CGT>TGT	p.R107C	JAKMIP2_uc003loq.1_Missense_Mutation_p.R107C|JAKMIP2_uc003lor.1_Missense_Mutation_p.R107C	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	107						Golgi apparatus				large_intestine(1)|ovary(1)	2														0.363077	612.599046	623.329237	236	414	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	147021012	147021012	8245	5	G	A	A	40	40	JAKMIP2	A	1	1
JAKMIP2	9832	broad.mit.edu	36	5	147031547	147031547	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:147031547G>A	uc010jgo.1	-	c.16C>T	c.(16-18)CGA>TGA	p.R6*	JAKMIP2_uc003loq.1_Nonsense_Mutation_p.R6*|JAKMIP2_uc003lor.1_Nonsense_Mutation_p.R6*	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	6						Golgi apparatus				large_intestine(1)|ovary(1)	2														0.177665	60.210401	79.489284	35	162	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Nonsense_Mutation	SNP	147031547	147031547	8245	5	G	A	A	38	38	JAKMIP2	A	5	1
SPINK5	11005	broad.mit.edu	36	5	147450968	147450968	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:147450968G>A	uc003loy.2	+	c.650G>A	c.(649-651)CGA>CAA	p.R217Q	SPINK5_uc010jgr.1_Missense_Mutation_p.R198Q|SPINK5_uc010jgs.1_Missense_Mutation_p.R189Q|SPINK5_uc003low.2_Missense_Mutation_p.R217Q|SPINK5_uc003lox.2_Missense_Mutation_p.R217Q|SPINK5_uc010jgq.1_Non-coding_Transcript	NM_001127698	NP_001121170	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	217					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			ovary(1)|breast(1)	2														0.333333	53.643945	55.198827	21	42	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	147450968	147450968	15574	5	G	A	A	37	37	SPINK5	A	1	1
SPINK5	11005	broad.mit.edu	36	5	147460247	147460247	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:147460247G>A	uc003loy.2	+	c.1130G>A	c.(1129-1131)GGA>GAA	p.G377E	SPINK5_uc010jgr.1_Missense_Mutation_p.G358E|SPINK5_uc010jgs.1_Missense_Mutation_p.G349E|SPINK5_uc003low.2_Missense_Mutation_p.G377E|SPINK5_uc003lox.2_Missense_Mutation_p.G377E	NM_001127698	NP_001121170	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	377	Kazal-like 6.				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			ovary(1)|breast(1)	2														0.166038	74.123917	102.17647	44	221	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	147460247	147460247	15574	5	G	A	A	41	41	SPINK5	A	2	2
FAM105B	90268	broad.mit.edu	36	5	14746107	14746107	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:14746107G>A	uc003jfk.1	+	c.1009G>A	c.(1009-1011)GAT>AAT	p.D337N		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	337										ovary(2)	2	Lung NSC(4;0.00696)													0.152778	16.073898	24.386711	11	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14746107	14746107	5585	5	G	A	A	37	37	FAM105B	A	1	1
SPINK5	11005	broad.mit.edu	36	5	147471616	147471616	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:147471616C>T	uc003loy.2	+	c.1785C>T	c.(1783-1785)ATC>ATT	p.I595I	SPINK5_uc010jgr.1_Silent_p.I576I|SPINK5_uc010jgs.1_Silent_p.I567I|SPINK5_uc003low.2_Silent_p.I595I|SPINK5_uc003lox.2_Silent_p.I595I	NM_001127698	NP_001121170	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	595	Kazal-like 9.				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			ovary(1)|breast(1)	2														0.330049	179.661088	184.855385	67	136	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	147471616	147471616	15574	5	C	T	T	30	30	SPINK5	T	2	2
SPINK5	11005	broad.mit.edu	36	5	147480052	147480052	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:147480052G>A	uc003loy.2	+	c.2443G>A	c.(2443-2445)GAA>AAA	p.E815K	SPINK5_uc003low.2_Missense_Mutation_p.E815K|SPINK5_uc003lox.2_Missense_Mutation_p.E815K	NM_001127698	NP_001121170	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	815	Kazal-like 12.				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			ovary(1)|breast(1)	2														0.32	41.479082	42.920222	16	34	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	147480052	147480052	15574	5	G	A	A	41	41	SPINK5	A	2	2
SPINK7	84651	broad.mit.edu	36	5	147672256	147672256	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:147672256G>A	uc003lpd.1	+	c.17G>A	c.(16-18)GGT>GAT	p.G6D		NM_032566	NP_115955	P58062	ISK7_HUMAN	esophagus cancer-related gene-2	6						extracellular region	protein binding|serine-type endopeptidase inhibitor activity				0														0.349254	314.777863	321.493308	117	218	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	147672256	147672256	15576	5	G	A	A	44	44	SPINK7	A	2	2
SPINK7	84651	broad.mit.edu	36	5	147675426	147675426	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:147675426G>A	uc003lpd.1	+	c.244G>A	c.(244-246)GAT>AAT	p.D82N		NM_032566	NP_115955	P58062	ISK7_HUMAN	esophagus cancer-related gene-2	82	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity				0														0.369565	140.184354	142.249443	51	87	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	147675426	147675426	15576	5	G	A	A	37	37	SPINK7	A	1	1
HTR4	3360	broad.mit.edu	36	5	147869540	147869540	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:147869540G>A	uc003lpm.1	-	c.748C>T	c.(748-750)CGC>TGC	p.R250C	HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc003lpi.1_Missense_Mutation_p.R250C|HTR4_uc003lpj.1_Missense_Mutation_p.R250C|HTR4_uc003lpk.1_Missense_Mutation_p.R250C|HTR4_uc003lpl.1_Missense_Mutation_p.R264C|HTR4_uc003lpn.1_Missense_Mutation_p.R250C|HTR4_uc010jgv.1_Non-coding_Transcript|HTR4_uc003lpo.1_Missense_Mutation_p.R250C	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform i	250	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1					Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GBM(120;370 1604 14007 17804 41573)								0.374233	163.227179	165.493293	61	102	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	147869540	147869540	7749	5	G	A	A	37	37	HTR4	A	1	1
ADRB2	154	broad.mit.edu	36	5	148187186	148187186	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148187186C>T	uc003lpr.1	+	c.599C>T	c.(598-600)GCC>GTC	p.A200V	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	200	Helical; Name=5.|Agonist and antagonist binding.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1					Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)									0.512448	725.705134	725.769601	247	235	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	148187186	148187186	342	5	C	T	T	26	26	ADRB2	T	2	2
SH3TC2	79628	broad.mit.edu	36	5	148372389	148372389	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148372389C>T	uc003lpu.1	-	c.3155G>A	c.(3154-3156)CGA>CAA	p.R1052Q	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.1_Missense_Mutation_p.R696Q|SH3TC2_uc003lps.1_Non-coding_Transcript|SH3TC2_uc003lpt.1_Missense_Mutation_p.R599Q|SH3TC2_uc010jgx.1_Missense_Mutation_p.R1045Q	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1052							binding			ovary(2)	2														0.146154	23.080201	38.704829	19	111	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	148372389	148372389	14754	5	C	T	T	31	31	SH3TC2	T	1	1
ABLIM3	22885	broad.mit.edu	36	5	148566840	148566840	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148566840C>T	uc003lpy.2	+	c.525C>T	c.(523-525)TGC>TGT	p.C175C	ABLIM3_uc003lpz.1_Silent_p.C175C|ABLIM3_uc003lqa.1_Silent_p.C183C|ABLIM3_uc003lqb.2_Silent_p.C175C|ABLIM3_uc003lqc.1_Silent_p.C175C|ABLIM3_uc003lqd.1_Silent_p.C175C|ABLIM3_uc003lqf.2_Silent_p.C175C|ABLIM3_uc003lqe.1_Silent_p.C175C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	175	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)	2														0.176	35.579097	47.961796	22	103	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	148566840	148566840	97	5	C	T	T	28	28	ABLIM3	T	2	2
SLC6A3	6531	broad.mit.edu	36	5	1485744	1485744	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1485744G>A	uc003jck.2	-	c.488C>T	c.(487-489)GCG>GTG	p.A163V		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	163	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6					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)									0.446043	156.96129	157.30574	62	77	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Missense_Mutation	SNP	1485744	1485744	15182	5	G	A	A	38	38	SLC6A3	A	1	1
PCYOX1L	78991	broad.mit.edu	36	5	148722393	148722393	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148722393C>T	uc003lqk.1	+	c.89C>T	c.(88-90)GCG>GTG	p.A30V	PCYOX1L_uc003lql.1_Missense_Mutation_p.A13V|PCYOX1L_uc010jgz.1_Missense_Mutation_p.A13V|PCYOX1L_uc003lqm.1_5'UTR|PCYOX1L_uc003lqn.1_5'UTR	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	30					oxidation-reduction process|prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor				0						Ovarian(62;1136 1477 27277 27495)								0.158537	36.53355	54.780486	26	138	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	148722393	148722393	12030	5	C	T	T	27	27	PCYOX1L	T	1	1
PCYOX1L	78991	broad.mit.edu	36	5	148728026	148728026	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148728026C>A	uc003lqk.1	+	c.1101C>A	c.(1099-1101)TTC>TTA	p.F367L	PCYOX1L_uc003lql.1_Missense_Mutation_p.F350L|PCYOX1L_uc010jgz.1_Missense_Mutation_p.F291L|PCYOX1L_uc003lqm.1_Missense_Mutation_p.F249L|PCYOX1L_uc003lqn.1_Missense_Mutation_p.F277L	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	367					oxidation-reduction process|prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor				0						Ovarian(62;1136 1477 27277 27495)						OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.212329	177.678548	211.250834	93	345	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	148728026	148728026	12030	5	C	A	A	32	32	PCYOX1L	A	3	3
ARHGEF37	389337	broad.mit.edu	36	5	148976325	148976325	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148976325C>T	uc003lra.1	+	c.461C>T	c.(460-462)CCG>CTG	p.P154L		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	154	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0														0.510204	239.328273	239.341672	75	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	148976325	148976325	921	5	C	T	T	23	23	ARHGEF37	T	1	1
ARHGEF37	389337	broad.mit.edu	36	5	148976393	148976393	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148976393C>A	uc003lra.1	+	c.529C>A	c.(529-531)CTG>ATG	p.L177M		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	177	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0														0.190955	81.041291	98.799675	38	161	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	148976393	148976393	921	5	C	A	A	20	20	ARHGEF37	A	3	3
ARHGEF37	389337	broad.mit.edu	36	5	148981682	148981682	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148981682C>T	uc003lra.1	+	c.1199C>T	c.(1198-1200)TCG>TTG	p.S400L		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	400	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0														0.555556	257.141541	257.574966	90	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	148981682	148981682	921	5	C	T	T	31	31	ARHGEF37	T	1	1
PPARGC1B	133522	broad.mit.edu	36	5	149190522	149190522	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149190522G>A	uc003lrc.1	+	c.466_splice	c.e4-1	p.L156_splice	PPARGC1B_uc003lrb.1_Splice_Site_SNP_p.L156_splice|PPARGC1B_uc003lrd.1_Intron|PPARGC1B_uc003lre.1_Splice_Site_SNP_p.L135_splice|PPARGC1B_uc003lrf.1_Splice_Site_SNP_p.L135_splice	NM_133263	NP_573570			peroxisome proliferator-activated receptor						estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription mediator activity				0														0.190594	151.303901	187.420899	77	327	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Splice_Site_SNP	SNP	149190522	149190522	12731	5	G	A	A	34	34	PPARGC1B	A	5	2
PPARGC1B	133522	broad.mit.edu	36	5	149196259	149196259	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149196259G>A	uc003lrc.1	+	c.2048G>A	c.(2047-2049)CGT>CAT	p.R683H	PPARGC1B_uc003lrb.1_Missense_Mutation_p.R683H|PPARGC1B_uc003lrd.1_Missense_Mutation_p.R644H|PPARGC1B_uc003lre.1_Missense_Mutation_p.R662H|PPARGC1B_uc003lrf.1_Missense_Mutation_p.R662H	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	683					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription mediator activity				0														0.169811	73.203258	100.480824	45	220	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Missense_Mutation	SNP	149196259	149196259	12731	5	G	A	A	40	40	PPARGC1B	A	1	1
PDE6A	5145	broad.mit.edu	36	5	149243283	149243283	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149243283C>T	uc003lrg.2	-	c.2037G>A	c.(2035-2037)ACG>ACA	p.T679T		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A, alpha subunit	679					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2														0.44186	107.939241	108.192103	38	48	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Silent	SNP	149243283	149243283	12066	5	C	T	T	31	31	PDE6A	T	1	1
PDE6A	5145	broad.mit.edu	36	5	149244308	149244308	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149244308G>A	uc003lrg.2	-	c.1954C>T	c.(1954-1956)CGT>TGT	p.R652C		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A, alpha subunit	652					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2														0.494845	279.888903	279.893421	96	98	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Missense_Mutation	SNP	149244308	149244308	12066	5	G	A	A	37	37	PDE6A	A	1	1
PDE6A	5145	broad.mit.edu	36	5	149256160	149256160	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149256160C>A	uc003lrg.2	-	c.1572G>T	c.(1570-1572)CAG>CAT	p.Q524H		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A, alpha subunit	524					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2														0.214533	122.971227	144.738679	62	227	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Missense_Mutation	SNP	149256160	149256160	12066	5	C	A	A	32	32	PDE6A	A	3	3
PDE6A	5145	broad.mit.edu	36	5	149294469	149294469	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149294469C>T	uc003lrg.2	-	c.480G>A	c.(478-480)GAG>GAA	p.E160E		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A, alpha subunit	160	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2														0.375	177.676073	179.864761	60	100	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Silent	SNP	149294469	149294469	12066	5	C	T	T	28	28	PDE6A	T	2	2
SLC26A2	1836	broad.mit.edu	36	5	149341471	149341471	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149341471C>A	uc003lrh.1	+	c.2122C>A	c.(2122-2124)CTC>ATC	p.L708I		NM_000112	NP_000103	P50443	S26A2_HUMAN	solute carrier family 26 member 2	708	Cytoplasmic (Potential).|STAS.					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity				0														0.48	230.569234	230.631109	84	91	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Missense_Mutation	SNP	149341471	149341471	15014	5	C	A	A	32	32	SLC26A2	A	3	3
CSF1R	1436	broad.mit.edu	36	5	149430210	149430210	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149430210A>G	uc003lrl.1	-	c.1198_splice	c.e7+1	p.Y400_splice	CSF1R_uc010jhc.1_Splice_Site_SNP|CSF1R_uc003lrm.1_Splice_Site_SNP_p.Y400_splice	NM_005211	NP_005202			colony stimulating factor 1 receptor precursor						cell proliferation|multicellular organismal development|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54					Imatinib(DB00619)|Sunitinib(DB01268)					592				0.621622	76.635237	77.116947	23	14	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Splice_Site_SNP	SNP	149430210	149430210	4073	5	A	G	G	6	6	CSF1R	G	5	4
CSF1R	1436	broad.mit.edu	36	5	149440036	149440036	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149440036C>T	uc003lrl.1	-	c.364G>A	c.(364-366)GAC>AAC	p.D122N	CSF1R_uc010jhc.1_Non-coding_Transcript|CSF1R_uc003lrm.1_Missense_Mutation_p.D122N	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	122	Extracellular (Potential).|Ig-like C2-type 2.				cell proliferation|multicellular organismal development|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54					Imatinib(DB00619)|Sunitinib(DB01268)					592				0.378151	119.379121	120.916203	45	74	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Missense_Mutation	SNP	149440036	149440036	4073	5	C	T	T	30	30	CSF1R	T	2	2
CSF1R	1436	broad.mit.edu	36	5	149440708	149440708	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149440708C>T	uc003lrl.1	-	c.122G>A	c.(121-123)CGA>CAA	p.R41Q	CSF1R_uc010jhc.1_Non-coding_Transcript|CSF1R_uc003lrm.1_Missense_Mutation_p.R41Q	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	41	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|multicellular organismal development|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54					Imatinib(DB00619)|Sunitinib(DB01268)					592				0.263566	77.697586	84.216209	34	95	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Missense_Mutation	SNP	149440708	149440708	4073	5	C	T	T	31	31	CSF1R	T	1	1
PDGFRB	5159	broad.mit.edu	36	5	149477515	149477515	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149477515C>T	uc003lro.1	-	c.2996G>A	c.(2995-2997)CGA>CAA	p.R999Q	PDGFRB_uc010jhd.1_Missense_Mutation_p.R838Q	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	999	Cytoplasmic (Potential).				cardiac myofibril assembly|cell chemotaxis|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(3)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	11		all_hematologic(541;0.224)			Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)					880				0.310559	124.114706	129.248712	50	111	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	149477515	149477515	12083	5	C	T	T	31	31	PDGFRB	T	1	1
PDGFRB	5159	broad.mit.edu	36	5	149489560	149489560	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149489560C>T	uc003lro.1	-	c.1532G>A	c.(1531-1533)CGC>CAC	p.R511H	PDGFRB_uc010jhd.1_Missense_Mutation_p.R350H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	511	Extracellular (Potential).|Ig-like C2-type 5.				cardiac myofibril assembly|cell chemotaxis|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(3)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	11		all_hematologic(541;0.224)			Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)					880		OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.513274	158.835222	158.852161	58	55	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	149489560	149489560	12083	5	C	T	T	27	27	PDGFRB	T	1	1
MYOZ3	91977	broad.mit.edu	36	5	150030392	150030392	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150030392C>T	uc003lss.2	+	c.215C>T	c.(214-216)GCG>GTG	p.A72V	MYOZ3_uc003lsr.2_Missense_Mutation_p.A72V	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	myozenin 3	72	Binding to FLNC.					sarcomere	protein binding				0		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)												0.204082	19.02287	23.007654	10	39	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150030392	150030392	10492	5	C	T	T	27	27	MYOZ3	T	1	1
RBM22	55696	broad.mit.edu	36	5	150056352	150056352	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150056352G>A	uc003lst.1	-	c.481C>T	c.(481-483)CGA>TGA	p.R161*	RBM22_uc010jhh.1_5'Flank	NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	161	C3H1-type.				nuclear mRNA splicing, via spliceosome|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)												0.42284	379.60289	381.289095	137	187	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Nonsense_Mutation	SNP	150056352	150056352	13584	5	G	A	A	37	37	RBM22	A	5	1
ZNF300	91975	broad.mit.edu	36	5	150255388	150255388	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150255388G>A	uc003lsy.1	-	c.1606C>T	c.(1606-1608)CTT>TTT	p.L536F		NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	536	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)												0.569536	284.877462	285.516365	86	65	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150255388	150255388	18423	5	G	A	A	35	35	ZNF300	A	2	2
ZNF300	91975	broad.mit.edu	36	5	150255808	150255808	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150255808G>T	uc003lsy.1	-	c.1186C>A	c.(1186-1188)CTG>ATG	p.L396M		NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	396	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)												0.331878	198.512399	204.252159	76	153	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150255808	150255808	18423	5	G	T	T	34	34	ZNF300	T	3	3
GM2A	2760	broad.mit.edu	36	5	150619556	150619556	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150619556G>T	uc003ltr.2	+	c.129G>T	c.(127-129)AAG>AAT	p.K43N	GM2A_uc003ltt.1_De_novo_Start_OutOfFrame	NM_000405	NP_000396	P17900	SAP3_HUMAN	GM2 ganglioside activator precursor	43						lysosome|nucleolus	sphingolipid activator protein activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)												0.315789	73.414647	76.282939	30	65	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150619556	150619556	6753	5	G	T	T	35	35	GM2A	T	3	3
GM2A	2760	broad.mit.edu	36	5	150627147	150627147	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150627147G>T	uc003ltr.2	+	c.524G>T	c.(523-525)AGC>ATC	p.S175I	GM2A_uc003ltu.1_5'Flank	NM_000405	NP_000396	P17900	SAP3_HUMAN	GM2 ganglioside activator precursor	175						lysosome|nucleolus	sphingolipid activator protein activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)												0.519608	153.971914	154.005887	53	49	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150627147	150627147	6753	5	G	T	T	34	34	GM2A	T	3	3
SLC36A3	285641	broad.mit.edu	36	5	150637392	150637392	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150637392G>A	uc003ltx.1	-	c.1291C>T	c.(1291-1293)CGC>TGC	p.R431C	SLC36A3_uc003ltv.1_Missense_Mutation_p.R375C|SLC36A3_uc003ltw.1_Missense_Mutation_p.R390C	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	390	Extracellular (Potential).					integral to membrane		p.R390C(1)		ovary(2)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)												0.324324	69.372162	71.400216	24	50	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150637392	150637392	15092	5	G	A	A	39	39	SLC36A3	A	1	1
SLC36A3	285641	broad.mit.edu	36	5	150643923	150643923	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150643923A>C	uc003ltx.1	-	c.972T>G	c.(970-972)TTT>TTG	p.F324L	SLC36A3_uc003ltv.1_Missense_Mutation_p.F268L|SLC36A3_uc003ltw.1_Missense_Mutation_p.F283L	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	283	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)												0.359813	499.24469	506.644395	154	274	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150643923	150643923	15092	5	A	C	C	1	1	SLC36A3	C	4	4
SLC36A2	153201	broad.mit.edu	36	5	150703299	150703299	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150703299G>A	uc003lty.1	-	c.309C>T	c.(307-309)CAC>CAT	p.H103H	SLC36A2_uc003ltz.1_Non-coding_Transcript|SLC36A2_uc003lua.1_5'UTR|SLC36A2_uc010jhv.1_Silent_p.H103H	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	103	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)												0.515625	367.44246	367.494751	132	124	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Silent	SNP	150703299	150703299	15091	5	G	A	A	48	48	SLC36A2	A	2	2
SLC36A1	206358	broad.mit.edu	36	5	150823390	150823390	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150823390G>A	uc003luc.1	+	c.227G>A	c.(226-228)GGC>GAC	p.G76D	SLC36A1_uc003lub.1_Missense_Mutation_p.G76D|SLC36A1_uc010jhw.1_Missense_Mutation_p.G76D	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	76	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)			Glycine(DB00145)|L-Alanine(DB00160)	Melanoma(151;1534 1860 12947 32979 37872)								0.286624	107.099601	113.519825	45	112	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150823390	150823390	15090	5	G	A	A	42	42	SLC36A1	A	2	2
SLC36A1	206358	broad.mit.edu	36	5	150824901	150824901	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150824901C>T	uc003luc.1	+	c.397C>T	c.(397-399)CGG>TGG	p.R133W	SLC36A1_uc003lub.1_Missense_Mutation_p.R133W|SLC36A1_uc010jhw.1_Missense_Mutation_p.R133W	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	133	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)			Glycine(DB00145)|L-Alanine(DB00160)	Melanoma(151;1534 1860 12947 32979 37872)								0.126087	35.718934	67.108701	29	201	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150824901	150824901	15090	5	C	T	T	23	23	SLC36A1	T	1	1
SLC36A1	206358	broad.mit.edu	36	5	150839103	150839103	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150839103C>T	uc003luc.1	+	c.1019C>T	c.(1018-1020)TCC>TTC	p.S340F	SLC36A1_uc003lub.1_Missense_Mutation_p.S340F|SLC36A1_uc010jhw.1_Missense_Mutation_p.S340F	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	340	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)			Glycine(DB00145)|L-Alanine(DB00160)	Melanoma(151;1534 1860 12947 32979 37872)								0.550162	515.169448	515.847181	170	139	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150839103	150839103	15090	5	C	T	T	30	30	SLC36A1	T	2	2
FAT2	2196	broad.mit.edu	36	5	150865433	150865433	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150865433A>G	uc003lue.2	-	c.12936T>C	c.(12934-12936)TGT>TGC	p.C4312C	FAT2_uc003lud.2_Silent_p.C919C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4312	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)												0.125786	23.297811	45.036931	20	139	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Silent	SNP	150865433	150865433	5926	5	A	G	G	6	6	FAT2	G	4	4
FAT2	2196	broad.mit.edu	36	5	150872045	150872045	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150872045C>T	uc003lue.2	-	c.11779G>A	c.(11779-11781)GCC>ACC	p.A3927T	FAT2_uc003lud.2_Missense_Mutation_p.A534T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3927	Extracellular (Potential).|Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)												0.240175	114.594569	128.660822	55	174	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150872045	150872045	5926	5	C	T	T	26	26	FAT2	T	2	2
FAT2	2196	broad.mit.edu	36	5	150905197	150905197	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150905197C>T	uc003lue.2	-	c.5684G>A	c.(5683-5685)CGG>CAG	p.R1895Q		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1895	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)												0.104558	25.758905	83.714799	39	334	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150905197	150905197	5926	5	C	T	T	23	23	FAT2	T	1	1
FAT2	2196	broad.mit.edu	36	5	150910471	150910471	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150910471G>A	uc003lue.2	-	c.4451C>T	c.(4450-4452)ACC>ATC	p.T1484I		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1484	Extracellular (Potential).|Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)												0.562963	216.471152	216.932082	76	59	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150910471	150910471	5926	5	G	A	A	44	44	FAT2	A	2	2
FAT2	2196	broad.mit.edu	36	5	150926028	150926028	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150926028C>T	uc003lue.2	-	c.2658G>A	c.(2656-2658)GAG>GAA	p.E886E	FAT2_uc010jhx.1_Silent_p.E886E	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	886	Extracellular (Potential).|Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)												0.345794	195.774037	200.272238	74	140	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Silent	SNP	150926028	150926028	5926	5	C	T	T	28	28	FAT2	T	2	2
G3BP1	10146	broad.mit.edu	36	5	151159719	151159719	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:151159719G>A	uc003lun.1	+	c.920G>A	c.(919-921)CGA>CAA	p.R307Q	G3BP1_uc003lum.1_Missense_Mutation_p.R307Q|G3BP1_uc010jhz.1_Missense_Mutation_p.R125Q|G3BP1_uc003luq.1_5'UTR	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	307					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			ovary(1)	1		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)												0.132353	11.525207	20.456437	9	59	GG		KEEP	---	---	---	---	capture	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Missense_Mutation	SNP	151159719	151159719	6392	5	G	A	A	37	37	G3BP1	A	1	1
GRIA1	2890	broad.mit.edu	36	5	153058792	153058792	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:153058792C>T	uc003luy.2	+	c.1418C>T	c.(1417-1419)GCC>GTC	p.A473V	GRIA1_uc003lva.2_Missense_Mutation_p.A473V|GRIA1_uc003luz.2_Missense_Mutation_p.A378V|GRIA1_uc010jia.1_Missense_Mutation_p.A453V	NM_000827	NP_000818	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	473	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(1)	5		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)			Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.481818	156.592437	156.622333	53	57	CC		KEEP	---	---	---	---	capture	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Missense_Mutation	SNP	153058792	153058792	7045	5	C	T	T	26	26	GRIA1	T	2	2
GRIA1	2890	broad.mit.edu	36	5	153124226	153124226	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:153124226C>A	uc003luy.2	+	c.1863C>A	c.(1861-1863)TTC>TTA	p.F621L	GRIA1_uc003lva.2_Missense_Mutation_p.F621L|GRIA1_uc003luz.2_Missense_Mutation_p.F526L	NM_000827	NP_000818	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	621	Helical; (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(1)	5		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)			Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.3375	126.097776	129.835818	54	106	CC		KEEP	---	---	---	---	capture	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Missense_Mutation	SNP	153124226	153124226	7045	5	C	A	A	32	32	GRIA1	A	3	3
FAM114A2	10827	broad.mit.edu	36	5	153362052	153362052	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:153362052C>T	uc003lvb.1	-	c.1208G>A	c.(1207-1209)GGC>GAC	p.G403D	FAM114A2_uc003lvc.1_Missense_Mutation_p.G403D|FAM114A2_uc003lvd.1_Missense_Mutation_p.G403D|FAM114A2_uc003lve.1_Missense_Mutation_p.G219D	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	403							purine nucleotide binding				0														0.176292	104.754787	137.253659	58	271	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153362052	153362052	5601	5	C	T	T	26	26	FAM114A2	T	2	2
LPCAT1	79888	broad.mit.edu	36	5	1536591	1536591	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1536591G>A	uc003jcm.1	-	c.678C>T	c.(676-678)ATC>ATT	p.I226I		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	acyltransferase like 2	226	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2														0.125	14.308478	28.59494	13	91	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	Silent	SNP	1536591	1536591	9283	5	G	A	A	41	41	LPCAT1	A	2	2
GALNT10	55568	broad.mit.edu	36	5	153689411	153689411	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:153689411G>A	uc003lvh.1	+	c.488G>A	c.(487-489)CGC>CAC	p.R163H	GALNT10_uc003lvg.1_Missense_Mutation_p.R163H|GALNT10_uc010jic.1_Non-coding_Transcript|GALNT10_uc010jid.1_Missense_Mutation_p.R66H	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	163	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)												0.17341	45.938211	63.378868	30	143	GG		KEEP	---	---	---	---	capture	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		Missense_Mutation	SNP	153689411	153689411	6472	5	G	A	A	38	38	GALNT10	A	1	1
LARP1	23367	broad.mit.edu	36	5	154150442	154150442	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154150442G>T	uc003lvp.1	+	c.543G>T	c.(541-543)GAG>GAT	p.E181D	LARP1_uc003lvo.1_Missense_Mutation_p.E104D|LARP1_uc010jie.1_5'UTR	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	181							protein binding|RNA binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)												0.328571	112.58794	116.243188	46	94	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Missense_Mutation	SNP	154150442	154150442	8951	5	G	T	T	33	33	LARP1	T	3	3
LARP1	23367	broad.mit.edu	36	5	154173731	154173731	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154173731C>T	uc003lvp.1	+	c.3173C>T	c.(3172-3174)TCT>TTT	p.S1058F	LARP1_uc003lvo.1_Missense_Mutation_p.S981F	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	1058							protein binding|RNA binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)												0.201149	72.4232	86.874783	35	139	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Missense_Mutation	SNP	154173731	154173731	8951	5	C	T	T	32	32	LARP1	T	2	2
GEMIN5	25929	broad.mit.edu	36	5	154248002	154248002	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154248002C>T	uc003lvx.2	-	c.4488G>A	c.(4486-4488)ACG>ACA	p.T1496T		NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1496					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)												0.348039	188.058445	192.218305	71	133	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Silent	SNP	154248002	154248002	6599	5	C	T	T	31	31	GEMIN5	T	1	1
GEMIN5	25929	broad.mit.edu	36	5	154258200	154258200	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154258200C>T	uc003lvx.2	-	c.3338G>A	c.(3337-3339)AGT>AAT	p.S1113N		NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1113					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)												0.158177	96.182095	137.748971	59	314	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Missense_Mutation	SNP	154258200	154258200	6599	5	C	T	T	20	20	GEMIN5	T	2	2
GEMIN5	25929	broad.mit.edu	36	5	154265140	154265140	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154265140T>G	uc003lvx.2	-	c.2485A>C	c.(2485-2487)AAG>CAG	p.K829Q		NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	829					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)												0.17284	62.309576	78.677944	28	134	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Missense_Mutation	SNP	154265140	154265140	6599	5	T	G	G	64	64	GEMIN5	G	4	4
GEMIN5	25929	broad.mit.edu	36	5	154272682	154272682	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154272682C>A	uc003lvx.2	-	c.1965G>T	c.(1963-1965)CTG>CTT	p.L655L		NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	655	WD 12.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)												0.318681	147.375848	152.699279	58	124	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Silent	SNP	154272682	154272682	6599	5	C	A	A	21	21	GEMIN5	A	3	3
GEMIN5	25929	broad.mit.edu	36	5	154279851	154279851	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154279851C>A	uc003lvx.2	-	c.1468G>T	c.(1468-1470)GAA>TAA	p.E490*		NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	490	WD 9.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)												0.524096	245.909177	245.991718	87	79	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Nonsense_Mutation	SNP	154279851	154279851	6599	5	C	A	A	32	32	GEMIN5	A	5	3
KIF4B	285643	broad.mit.edu	36	5	154374238	154374238	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154374238C>T	uc010jih.1	+	c.626C>T	c.(625-627)TCG>TTG	p.S209L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	209	Kinesin-motor.				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)												0.367213	298.32274	303.048679	112	193	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Missense_Mutation	SNP	154374238	154374238	8615	5	C	T	T	31	31	KIF4B	T	1	1
KIF4B	285643	broad.mit.edu	36	5	154374575	154374575	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154374575G>T	uc010jih.1	+	c.963G>T	c.(961-963)GAG>GAT	p.E321D		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	321	Kinesin-motor.				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)												0.168301	173.004506	236.828881	103	509	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Missense_Mutation	SNP	154374575	154374575	8615	5	G	T	T	35	35	KIF4B	T	3	3
KIF4B	285643	broad.mit.edu	36	5	154374806	154374806	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154374806G>A	uc010jih.1	+	c.1194G>A	c.(1192-1194)GAG>GAA	p.E398E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	398	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)												0.181058	132.64226	166.979467	65	294	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Silent	SNP	154374806	154374806	8615	5	G	A	A	33	33	KIF4B	A	2	2
TIMD4	91937	broad.mit.edu	36	5	156314228	156314228	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:156314228C>T	uc003lwh.1	-	c.176G>A	c.(175-177)TGC>TAC	p.C59Y	TIMD4_uc010jii.1_Missense_Mutation_p.C59Y	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	59	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)												0.373626	166.142843	168.698153	68	114	CC		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Missense_Mutation	SNP	156314228	156314228	16432	5	C	T	T	25	25	TIMD4	T	2	2
HAVCR1	26762	broad.mit.edu	36	5	156412086	156412086	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:156412086C>T	uc010jij.1	-	c.537G>A	c.(535-537)CTG>CTA	p.L179L	HAVCR1_uc003lwi.2_Silent_p.L179L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	174	7.|Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.			L -> P (in Ref. 1; AAC39862).	interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)												0.153762	217.755745	322.921302	141	776	CC		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Silent	SNP	156412086	156412086	7255	5	C	T	T	29	29	HAVCR1	T	2	2
HAVCR2	84868	broad.mit.edu	36	5	156466254	156466254	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:156466254T>G	uc003lwk.1	-	c.356A>C	c.(355-357)AAT>ACT	p.N119T	HAVCR2_uc003lwl.2_Missense_Mutation_p.N119T	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3	119	Ig-like V-type.|Extracellular (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)												0.366834	241.73685	244.833927	73	126	TT		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Missense_Mutation	SNP	156466254	156466254	7256	5	T	G	G	52	52	HAVCR2	G	4	4
ITK	3702	broad.mit.edu	36	5	156601250	156601250	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:156601250C>A	uc003lwo.1	+	c.1002C>A	c.(1000-1002)CTC>CTA	p.L334L		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	334	SH2.				cellular defense response|intracellular signal transduction|protein phosphorylation|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(8)|lung(4)|skin(3)|stomach(1)|central_nervous_system(1)	17	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)				Esophageal Squamous(70;1378 1469 8785 19883)				330				0.192513	63.286775	79.808354	36	151	CC		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Silent	SNP	156601250	156601250	8213	5	C	A	A	30	30	ITK	A	3	3
ITK	3702	broad.mit.edu	36	5	156603858	156603858	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:156603858C>A	uc003lwo.1	+	c.1241C>A	c.(1240-1242)TCT>TAT	p.S414Y		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	414	Protein kinase.				cellular defense response|intracellular signal transduction|protein phosphorylation|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(8)|lung(4)|skin(3)|stomach(1)|central_nervous_system(1)	17	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)				Esophageal Squamous(70;1378 1469 8785 19883)				330				0.131579	25.038414	50.124083	25	165	CC		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Missense_Mutation	SNP	156603858	156603858	8213	5	C	A	A	32	32	ITK	A	3	3
CLINT1	9685	broad.mit.edu	36	5	157147426	157147426	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:157147426C>T	uc003lxi.1	-	c.1684G>A	c.(1684-1686)GGA>AGA	p.G562R	CLINT1_uc003lxh.1_Missense_Mutation_p.G136R|CLINT1_uc003lxj.1_Missense_Mutation_p.G562R|CLINT1_uc003lxg.1_Missense_Mutation_p.G99R	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	562	Met-rich.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)				Colon(22;427 587 2170 6147 14291)								0.215827	66.43406	76.750197	30	109	CC		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Missense_Mutation	SNP	157147426	157147426	3669	5	C	T	T	22	22	CLINT1	T	2	2
CLINT1	9685	broad.mit.edu	36	5	157151343	157151343	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:157151343G>T	uc003lxi.1	-	c.1272C>A	c.(1270-1272)TTC>TTA	p.F424L	CLINT1_uc003lxh.1_Missense_Mutation_p.F16L|CLINT1_uc003lxj.1_Missense_Mutation_p.F442L|CLINT1_uc003lxg.1_5'Flank	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	442					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)				Colon(22;427 587 2170 6147 14291)								0.199513	152.679331	187.243936	82	329	GG		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Missense_Mutation	SNP	157151343	157151343	3669	5	G	T	T	33	33	CLINT1	T	3	3
CLINT1	9685	broad.mit.edu	36	5	157177090	157177090	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:157177090G>A	uc003lxi.1	-	c.31C>T	c.(31-33)CGA>TGA	p.R11*	CLINT1_uc003lxj.1_Nonsense_Mutation_p.R29*	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	29	ENTH.	Phosphatidylinositol lipid headgroup (By similarity).		R->L: Reduces lipid binding. Abolishes lipid binding; when associated with G-34.	endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)				Colon(22;427 587 2170 6147 14291)								0.612245	89.655837	90.19616	30	19	GG		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Nonsense_Mutation	SNP	157177090	157177090	3669	5	G	A	A	37	37	CLINT1	A	5	1
RNF145	153830	broad.mit.edu	36	5	158529354	158529354	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:158529354C>T	uc010jiq.1	-	c.939G>A	c.(937-939)ACG>ACA	p.T313T	RNF145_uc003lxo.1_Silent_p.T311T|RNF145_uc003lxp.2_Silent_p.T283T|RNF145_uc010jir.1_Silent_p.T299T	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	283	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(2)	2	Renal(175;0.00196)	Medulloblastoma(196;0.0523)												0.157303	25.500078	35.465086	14	75	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Silent	SNP	158529354	158529354	13924	5	C	T	T	23	23	RNF145	T	1	1
UBLCP1	134510	broad.mit.edu	36	5	158629983	158629983	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:158629983T>C	uc003lxq.2	+	c.284T>C	c.(283-285)GTT>GCT	p.V95A		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase	95						nucleus	phosphoprotein phosphatase activity			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0523)												0.14511	93.924552	132.374567	46	271	TT		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	158629983	158629983	17449	5	T	C	C	60	60	UBLCP1	C	4	4
PWWP2A	114825	broad.mit.edu	36	5	159440275	159440275	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159440275A>G	uc003lxv.2	-	c.1630T>C	c.(1630-1632)TTC>CTC	p.F544L		NM_052927	NP_443159	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform a	Error:Variant_position_missing_in_Q96N64_after_alignment											0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)												0.470588	27.499733	27.512449	8	9	AA		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159440275	159440275	13303	5	A	G	G	4	4	PWWP2A	G	4	4
C5orf54	63920	broad.mit.edu	36	5	159753491	159753491	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159753491T>G	uc003lye.1	-	c.1585A>C	c.(1585-1587)AAG>CAG	p.K529Q	C5orf54_uc003lyf.1_Missense_Mutation_p.K529Q|C5orf54_uc010jis.1_Missense_Mutation_p.K529Q	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	529										pancreas(1)	1														0.333333	245.540388	251.141136	76	152	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159753491	159753491	2410	5	T	G	G	64	64	C5orf54	G	4	4
C5orf54	63920	broad.mit.edu	36	5	159753629	159753629	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159753629C>T	uc003lye.1	-	c.1447G>A	c.(1447-1449)GAT>AAT	p.D483N	C5orf54_uc003lyf.1_Missense_Mutation_p.D483N|C5orf54_uc010jis.1_Missense_Mutation_p.D483N	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	483										pancreas(1)	1														0.548246	371.080291	371.541025	125	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159753629	159753629	2410	5	C	T	T	31	31	C5orf54	T	1	1
SLU7	10569	broad.mit.edu	36	5	159767957	159767957	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159767957C>T	uc003lyg.1	-	c.776G>A	c.(775-777)CGA>CAA	p.R259Q		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	259					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)												0.579909	379.746535	380.966723	127	92	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159767957	159767957	15253	5	C	T	T	31	31	SLU7	T	1	1
SLU7	10569	broad.mit.edu	36	5	159773499	159773499	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159773499C>A	uc003lyg.1	-	c.390G>T	c.(388-390)AAG>AAT	p.K130N		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	130	Bipartite nuclear localization signal.|CCHC-type.				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)												0.351351	130.249881	133.136712	52	96	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159773499	159773499	15253	5	C	A	A	32	32	SLU7	A	3	3
ATP10B	23120	broad.mit.edu	36	5	159925399	159925399	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159925399C>A	uc003lym.1	-	c.4025G>T	c.(4024-4026)AGA>ATA	p.R1342I	ATP10B_uc010jit.1_Missense_Mutation_p.R592I	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1342	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)												0.149635	109.470982	174.027705	82	466	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159925399	159925399	1136	5	C	A	A	32	32	ATP10B	A	3	3
ATP10B	23120	broad.mit.edu	36	5	159950655	159950655	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159950655T>C	uc003lym.1	-	c.3634A>G	c.(3634-3636)ATC>GTC	p.I1212V	ATP10B_uc010jit.1_Missense_Mutation_p.I462V	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1212	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)												0.133333	33.416179	52.971307	20	130	TT		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159950655	159950655	1136	5	T	C	C	49	49	ATP10B	C	4	4
ATP10B	23120	broad.mit.edu	36	5	159958550	159958550	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159958550G>A	uc003lym.1	-	c.3369C>T	c.(3367-3369)TAC>TAT	p.Y1123Y	ATP10B_uc010jit.1_Intron	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1123	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)												0.367232	164.00233	166.754817	65	112	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Silent	SNP	159958550	159958550	1136	5	G	A	A	40	40	ATP10B	A	1	1
ATP10B	23120	broad.mit.edu	36	5	159972465	159972465	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159972465G>A	uc003lym.1	-	c.2699C>T	c.(2698-2700)ACG>ATG	p.T900M	ATP10B_uc010jit.1_Missense_Mutation_p.T217M|ATP10B_uc003lyn.2_Missense_Mutation_p.T458M	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	900	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)												0.547009	178.59519	178.819349	64	53	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159972465	159972465	1136	5	G	A	A	40	40	ATP10B	A	1	1
ATP10B	23120	broad.mit.edu	36	5	159980373	159980373	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159980373C>A	uc003lym.1	-	c.1975G>T	c.(1975-1977)GAC>TAC	p.D659Y	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.D217Y	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	659	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)												0.19788	101.013788	125.095175	56	227	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159980373	159980373	1136	5	C	A	A	32	32	ATP10B	A	3	3
ATP10B	23120	broad.mit.edu	36	5	159991766	159991766	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159991766G>T	uc003lym.1	-	c.1568C>A	c.(1567-1569)TCT>TAT	p.S523Y	ATP10B_uc003lyn.2_Missense_Mutation_p.S81Y	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	523	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)												0.128378	17.406711	37.353329	19	129	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159991766	159991766	1136	5	G	T	T	33	33	ATP10B	T	3	3
ATP10B	23120	broad.mit.edu	36	5	159991947	159991947	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159991947G>A	uc003lym.1	-	c.1387C>T	c.(1387-1389)CGA>TGA	p.R463*	ATP10B_uc003lyn.2_Nonsense_Mutation_p.R21*	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	463	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)												0.368421	315.749377	320.66029	119	204	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Nonsense_Mutation	SNP	159991947	159991947	1136	5	G	A	A	38	38	ATP10B	A	5	1
GABRB2	2561	broad.mit.edu	36	5	160904835	160904835	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:160904835G>A	uc003lys.1	-	c.213C>T	c.(211-213)ATC>ATT	p.I71I	GABRB2_uc003lyr.1_Silent_p.I71I|GABRB2_uc003lyt.1_Silent_p.I71I|GABRB2_uc010jiu.1_Silent_p.I8I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	71	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)			Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.358209	64.181161	65.3674	24	43	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Silent	SNP	160904835	160904835	6418	5	G	A	A	37	37	GABRB2	A	1	1
GABRA1	2554	broad.mit.edu	36	5	161256821	161256821	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161256821G>A	uc010jiw.1	+	c.1186G>A	c.(1186-1188)GAA>AAA	p.E396K	GABRA1_uc010jix.1_Missense_Mutation_p.E396K|GABRA1_uc010jiy.1_Missense_Mutation_p.E396K|GABRA1_uc003lyx.2_Missense_Mutation_p.E396K|GABRA1_uc010jiz.1_Missense_Mutation_p.E396K|GABRA1_uc010jja.1_Missense_Mutation_p.E396K|GABRA1_uc010jjb.1_Missense_Mutation_p.E396K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	396	Cytoplasmic (Probable).				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)			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)									0.360215	375.846688	382.245577	134	238	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Missense_Mutation	SNP	161256821	161256821	6411	5	G	A	A	33	33	GABRA1	A	2	2
GABRG2	2566	broad.mit.edu	36	5	161453549	161453549	+	Missense_Mutation	SNP	G	A	A	rs28933070	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161453549G>A	uc010jjc.1	+	c.245G>A	c.(244-246)CGG>CAG	p.R82Q	GABRG2_uc003lyy.2_Missense_Mutation_p.R82Q|GABRG2_uc003lyz.2_Missense_Mutation_p.R82Q	NM_198903	NP_944493	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	82	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)	4	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)												0.51773	463.05599	463.133333	146	136	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Missense_Mutation	SNP	161453549	161453549	6423	5	G	A	A	39	39	GABRG2	A	1	1
GABRG2	2566	broad.mit.edu	36	5	161511320	161511320	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161511320C>T	uc010jjc.1	+	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	GABRG2_uc003lyy.2_Missense_Mutation_p.R379W|GABRG2_uc003lyz.2_Intron	NM_198903	NP_944493	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	376	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)	4	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)												0.415179	259.91409	261.325755	93	131	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Missense_Mutation	SNP	161511320	161511320	6423	5	C	T	T	31	31	GABRG2	T	1	1
CCNG1	900	broad.mit.edu	36	5	162801472	162801472	+	Missense_Mutation	SNP	G	T	T	rs1803357	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:162801472G>T	uc003lzb.1	+	c.521G>T	c.(520-522)AGA>ATA	p.R174I	CCNG1_uc003lzc.2_Non-coding_Transcript	NM_199246	NP_954854	P51959	CCNG1_HUMAN	cyclin G1	174					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				lung(1)|kidney(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)								99				0.535211	218.692604	218.844364	76	66	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	Missense_Mutation	SNP	162801472	162801472	3050	5	G	T	T	33	33	CCNG1	T	3	3
NUDCD2	134492	broad.mit.edu	36	5	162816598	162816598	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:162816598G>A	uc003lze.1	-	c.305C>T	c.(304-306)TCT>TTT	p.S102F		NM_145266	NP_660309	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	102	CS.					intracellular					0	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)												0.192771	99.843906	121.798619	48	201	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	Missense_Mutation	SNP	162816598	162816598	11128	5	G	A	A	33	33	NUDCD2	A	2	2
HMMR	3161	broad.mit.edu	36	5	162827302	162827302	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:162827302T>G	uc003lzh.1	+	c.243T>G	c.(241-243)AAT>AAG	p.N81K	HMMR_uc003lzf.1_Missense_Mutation_p.N80K|HMMR_uc003lzg.1_Intron	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	80						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)								703				0.492754	249.408805	249.414863	68	70	TT		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Missense_Mutation	SNP	162827302	162827302	7534	5	T	G	G	51	51	HMMR	G	4	4
MYO10	4651	broad.mit.edu	36	5	16721440	16721440	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:16721440C>T	uc003jft.2	-	c.6021G>A	c.(6019-6021)GCG>GCA	p.A2007A	MYO10_uc010itx.1_Silent_p.A1629A	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	2007	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.200599	129.660786	157.608433	67	267	CC		KEEP	---	---	---	---	capture			Silent	SNP	16721440	16721440	10457	5	C	T	T	31	31	MYO10	T	1	1
MYO10	4651	broad.mit.edu	36	5	16726833	16726833	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:16726833G>A	uc003jft.2	-	c.5130C>T	c.(5128-5130)GGC>GGT	p.G1710G	MYO10_uc010itx.1_Silent_p.G1332G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1710	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.518519	131.149974	131.174016	42	39	GG		KEEP	---	---	---	---	capture			Silent	SNP	16726833	16726833	10457	5	G	A	A	34	34	MYO10	A	2	2
MYO10	4651	broad.mit.edu	36	5	16754513	16754513	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:16754513G>A	uc003jft.2	-	c.2991C>T	c.(2989-2991)TTC>TTT	p.F997F	MYO10_uc010itx.1_Silent_p.F620F	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	997					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.168831	16.697932	24.756839	13	64	GG		KEEP	---	---	---	---	capture			Silent	SNP	16754513	16754513	10457	5	G	A	A	37	37	MYO10	A	1	1
MYO10	4651	broad.mit.edu	36	5	16754813	16754813	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:16754813G>A	uc003jft.2	-	c.2691C>T	c.(2689-2691)ATC>ATT	p.I897I	MYO10_uc010itx.1_Silent_p.I520I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	897	Potential.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.465347	129.208523	129.314255	47	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	16754813	16754813	10457	5	G	A	A	37	37	MYO10	A	1	1
MYO10	4651	broad.mit.edu	36	5	16754944	16754944	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:16754944C>A	uc003jft.2	-	c.2560G>T	c.(2560-2562)GAA>TAA	p.E854*	MYO10_uc010itx.1_Nonsense_Mutation_p.E477*	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	854	Potential.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.156863	24.333042	35.797343	16	86	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	16754944	16754944	10457	5	C	A	A	32	32	MYO10	A	5	3
ODZ2	57451	broad.mit.edu	36	5	167550056	167550056	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:167550056C>A	uc010jjd.1	+	c.2679C>A	c.(2677-2679)TTC>TTA	p.F893L	ODZ2_uc003lzr.2_Missense_Mutation_p.F670L|ODZ2_uc003lzt.2_Missense_Mutation_p.F266L|ODZ2_uc010jje.1_Missense_Mutation_p.F164L	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)												0.215686	42.483004	50.104547	22	80	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	Missense_Mutation	SNP	167550056	167550056	11240	5	C	A	A	32	32	ODZ2	A	3	3
ODZ2	57451	broad.mit.edu	36	5	167559647	167559647	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:167559647C>A	uc010jjd.1	+	c.3336C>A	c.(3334-3336)GCC>GCA	p.A1112A	ODZ2_uc003lzr.2_Silent_p.A889A|ODZ2_uc003lzt.2_Silent_p.A485A|ODZ2_uc010jje.1_Silent_p.A383A	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)												0.182796	28.822731	37.610182	17	76	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	Silent	SNP	167559647	167559647	11240	5	C	A	A	24	24	ODZ2	A	3	3
ODZ2	57451	broad.mit.edu	36	5	167607812	167607812	+	Nonsense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:167607812T>G	uc010jjd.1	+	c.7263T>G	c.(7261-7263)TAT>TAG	p.Y2421*	ODZ2_uc003lzr.2_Nonsense_Mutation_p.Y2191*|ODZ2_uc003lzt.2_Nonsense_Mutation_p.Y1794*|ODZ2_uc010jje.1_Nonsense_Mutation_p.Y1685*	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)												0.321244	195.898444	201.3674	62	131	TT		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	Nonsense_Mutation	SNP	167607812	167607812	11240	5	T	G	G	51	51	ODZ2	G	5	4
RARS	5917	broad.mit.edu	36	5	167860254	167860254	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:167860254C>T	uc003lzx.1	+	c.903C>T	c.(901-903)AAC>AAT	p.N301N		NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	301					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)												0.482456	154.011718	154.042464	55	59	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	Silent	SNP	167860254	167860254	13518	5	C	T	T	18	18	RARS	T	2	2
PANK3	79646	broad.mit.edu	36	5	167928468	167928468	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:167928468T>C	uc003lzz.1	-	c.142A>G	c.(142-144)ATT>GTT	p.I48V		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	pantothenate kinase 3	48					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)												0.574899	492.4004	493.613949	142	105	TT		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	Missense_Mutation	SNP	167928468	167928468	11835	5	T	C	C	49	49	PANK3	C	4	4
SLIT3	6586	broad.mit.edu	36	5	168071878	168071878	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:168071878G>A	uc010jjg.1	-	c.2543C>T	c.(2542-2544)TCT>TTT	p.S848F	SLIT3_uc003mab.1_Missense_Mutation_p.S848F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3	848					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)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)				Ovarian(29;311 847 10864 17279 24903)								0.156028	38.640538	54.598591	22	119	GG		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	168071878	168071878	15239	5	G	A	A	33	33	SLIT3	A	2	2
SLIT3	6586	broad.mit.edu	36	5	168108012	168108012	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:168108012C>T	uc010jjg.1	-	c.2143G>A	c.(2143-2145)GAG>AAG	p.E715K	SLIT3_uc003mab.1_Missense_Mutation_p.E715K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3	715					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)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)				Ovarian(29;311 847 10864 17279 24903)								0.175182	39.729812	53.35927	24	113	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	168108012	168108012	15239	5	C	T	T	31	31	SLIT3	T	1	1
SLIT3	6586	broad.mit.edu	36	5	168112558	168112558	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:168112558C>T	uc010jjg.1	-	c.1953G>A	c.(1951-1953)ACG>ACA	p.T651T	SLIT3_uc003mab.1_Silent_p.T651T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3	651	LRR 16.				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)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)				Ovarian(29;311 847 10864 17279 24903)								0.523364	155.88777	155.937908	56	51	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Silent	SNP	168112558	168112558	15239	5	C	T	T	27	27	SLIT3	T	1	1
SLIT3	6586	broad.mit.edu	36	5	168133904	168133904	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:168133904C>A	uc010jjg.1	-	c.1209G>T	c.(1207-1209)CAG>CAT	p.Q403H	SLIT3_uc003mab.1_Missense_Mutation_p.Q403H|SLIT3_uc003mac.1_Missense_Mutation_p.Q200H|SLIT3_uc010jji.1_Missense_Mutation_p.Q403H	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3	403					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)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)				Ovarian(29;311 847 10864 17279 24903)								0.16944	176.202102	244.695739	112	549	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	168133904	168133904	15239	5	C	A	A	32	32	SLIT3	A	3	3
MYO10	4651	broad.mit.edu	36	5	16819295	16819295	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:16819295G>T	uc003jft.2	-	c.1073C>A	c.(1072-1074)TCT>TAT	p.S358Y	MYO10_uc010itx.1_De_novo_Start_OutOfFrame	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	358	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.189189	24.300808	30.996281	14	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16819295	16819295	10457	5	G	T	T	33	33	MYO10	T	3	3
FOXI1	2299	broad.mit.edu	36	5	169465659	169465659	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:169465659C>T	uc003mai.2	+	c.120C>T	c.(118-120)GGC>GGT	p.G40G	FOXI1_uc003maj.2_Silent_p.G40G	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	40	Pro-rich.				epidermal cell fate specification|negative regulation of gene-specific transcription from RNA polymerase II promoter|otic placode formation|pattern specification process|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)												0.324324	58.769807	60.799238	24	50	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Silent	SNP	169465659	169465659	6254	5	C	T	T	27	27	FOXI1	T	1	1
C5orf58	133874	broad.mit.edu	36	5	169593746	169593746	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:169593746C>T	uc010jjn.1	+	c.29C>T	c.(28-30)GCT>GTT	p.A10V	C5orf58_uc003mal.2_Non-coding_Transcript	NM_001102609	NP_001096079	C9J3I9	CE058_HUMAN	hypothetical protein LOC133874	10											0														0.110169	13.487456	31.233412	13	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	169593746	169593746	2413	5	C	T	T	28	28	C5orf58	T	2	2
GABRP	2568	broad.mit.edu	36	5	170171540	170171540	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:170171540G>A	uc003mau.1	+	c.1023G>A	c.(1021-1023)GGG>GGA	p.G341G	GABRP_uc003mav.1_Missense_Mutation_p.D187N	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	341	Cytoplasmic (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)												0.201299	132.681525	158.22007	62	246	GG		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Silent	SNP	170171540	170171540	6425	5	G	A	A	41	41	GABRP	A	2	2
GABRP	2568	broad.mit.edu	36	5	170171752	170171752	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:170171752G>T	uc003mau.1	+	c.1235G>T	c.(1234-1236)AGT>ATT	p.S412I	GABRP_uc003mav.1_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	412	Cytoplasmic (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)												0.377682	242.63116	245.694361	88	145	GG		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Missense_Mutation	SNP	170171752	170171752	6425	5	G	T	T	36	36	GABRP	T	3	3
RANBP17	64901	broad.mit.edu	36	5	170279175	170279175	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:170279175G>A	uc003mba.1	+	c.1227G>A	c.(1225-1227)ACG>ACA	p.T409T	RANBP17_uc003max.1_Non-coding_Transcript|RANBP17_uc003may.1_Non-coding_Transcript|RANBP17_uc003maz.1_Non-coding_Transcript|RANBP17_uc010jjr.1_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	409					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)								661				0.515815	620.695779	620.785272	212	199	GG		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Silent	SNP	170279175	170279175	13487	5	G	A	A	37	37	RANBP17	A	1	1
RANBP17	64901	broad.mit.edu	36	5	170283969	170283969	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:170283969T>C	uc003mba.1	+	c.1278T>C	c.(1276-1278)GAT>GAC	p.D426D	RANBP17_uc003max.1_Non-coding_Transcript|RANBP17_uc003may.1_Non-coding_Transcript|RANBP17_uc003maz.1_Non-coding_Transcript|RANBP17_uc010jjr.1_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	426					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)								661				0.165049	35.918576	46.87826	17	86	TT		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Silent	SNP	170283969	170283969	13487	5	T	C	C	50	50	RANBP17	C	4	4
FGF18	8817	broad.mit.edu	36	5	170795746	170795746	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:170795746G>A	uc003mbk.1	+	c.114G>A	c.(112-114)GAG>GAA	p.E38E		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	38					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)												0.121951	11.302285	22.774201	10	72	GG		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Silent	SNP	170795746	170795746	6083	5	G	A	A	33	33	FGF18	A	2	2
FBXW11	23291	broad.mit.edu	36	5	171237686	171237686	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:171237686C>T	uc003mbm.1	-	c.842G>A	c.(841-843)GGC>GAC	p.G281D	FBXW11_uc003mbl.1_Missense_Mutation_p.G268D|FBXW11_uc003mbn.1_Missense_Mutation_p.G247D	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	281	WD 2.				cell cycle|negative regulation of gene-specific transcription|positive regulation of circadian rhythm|positive regulation of gene-specific transcription|positive regulation of proteolysis|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|specific transcriptional repressor activity|transcription activator activity|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)												0.433735	199.972969	200.608026	72	94	CC		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Missense_Mutation	SNP	171237686	171237686	6001	5	C	T	T	26	26	FBXW11	T	2	2
FBXW11	23291	broad.mit.edu	36	5	171259543	171259543	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:171259543T>G	uc003mbm.1	-	c.540A>C	c.(538-540)GGA>GGC	p.G180G	FBXW11_uc003mbl.1_Silent_p.G167G|FBXW11_uc003mbn.1_Silent_p.G146G	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	180					cell cycle|negative regulation of gene-specific transcription|positive regulation of circadian rhythm|positive regulation of gene-specific transcription|positive regulation of proteolysis|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|specific transcriptional repressor activity|transcription activator activity|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)												0.18894	303.382552	362.282008	123	528	TT		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Silent	SNP	171259543	171259543	6001	5	T	G	G	58	58	FBXW11	G	4	4
STK10	6793	broad.mit.edu	36	5	171442073	171442073	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:171442073C>T	uc003mbo.1	-	c.1851G>A	c.(1849-1851)GAG>GAA	p.E617E		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	617	Potential.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(3)|testis(1)|lung(1)|pancreas(1)	6	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)								570				0.196875	136.649966	164.037421	63	257	CC		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Silent	SNP	171442073	171442073	15806	5	C	T	T	28	28	STK10	T	2	2
SH3PXD2B	285590	broad.mit.edu	36	5	171713589	171713589	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:171713589C>T	uc003mbr.1	-	c.693G>A	c.(691-693)CCG>CCA	p.P231P		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	231	SH3 2.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)												0.5	202.525035	202.525035	71	71	CC		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Silent	SNP	171713589	171713589	14749	5	C	T	T	19	19	SH3PXD2B	T	1	1
RPL26L1	51121	broad.mit.edu	36	5	172328131	172328131	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:172328131T>C	uc003mcc.1	+	c.232T>C	c.(232-234)TAT>CAT	p.Y78H		NM_001093761	NP_001087230	Q9UNX3	RL26L_HUMAN	hypothetical protein LOC653147	78					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)												0.369393	450.859606	456.518042	140	239	TT		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Missense_Mutation	SNP	172328131	172328131	14053	5	T	C	C	49	49	RPL26L1	C	4	4
C5orf41	153222	broad.mit.edu	36	5	172450436	172450436	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:172450436G>T	uc003mch.1	+	c.648G>T	c.(646-648)AAG>AAT	p.K216N	C5orf41_uc003mcf.2_Missense_Mutation_p.K216N|C5orf41_uc003mcg.2_Missense_Mutation_p.K216N	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	216					regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)												0.135484	25.76437	45.729745	21	134	GG		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Missense_Mutation	SNP	172450436	172450436	2398	5	G	T	T	33	33	C5orf41	T	3	3
STC2	8614	broad.mit.edu	36	5	172677488	172677488	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:172677488C>T	uc003mco.1	-	c.877G>A	c.(877-879)GAA>AAA	p.E293K	STC2_uc003mcn.1_Missense_Mutation_p.E208K	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	293					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)												0.356021	355.484626	362.463917	136	246	CC		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Missense_Mutation	SNP	172677488	172677488	15796	5	C	T	T	31	31	STC2	T	1	1
CPEB4	80315	broad.mit.edu	36	5	173311542	173311542	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:173311542G>A	uc003mcs.2	+	c.1775G>A	c.(1774-1776)CGA>CAA	p.R592Q	CPEB4_uc010jju.1_Missense_Mutation_p.R567Q|CPEB4_uc010jjv.1_Missense_Mutation_p.R575Q|CPEB4_uc003mct.2_Missense_Mutation_p.R202Q|CPEB4_uc003mcu.2_Missense_Mutation_p.R185Q	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	592	RRM 2.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)												0.184466	36.158382	45.783353	19	84	GG		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Missense_Mutation	SNP	173311542	173311542	3941	5	G	A	A	37	37	CPEB4	A	1	1
DRD1	1812	broad.mit.edu	36	5	174802006	174802006	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:174802006C>A	uc003mcz.1	-	c.703G>T	c.(703-705)GCA>TCA	p.A235S	DRD1_uc010jjw.1_Missense_Mutation_p.A235S	NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	235	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|regulation of dopamine uptake|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	protein binding			ovary(2)	2	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)			Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)									0.19573	109.053	133.317205	55	226	CC		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Missense_Mutation	SNP	174802006	174802006	4940	5	C	A	A	28	28	DRD1	A	3	3
DRD1	1812	broad.mit.edu	36	5	174802445	174802445	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:174802445G>T	uc003mcz.1	-	c.264C>A	c.(262-264)GGC>GGA	p.G88G	DRD1_uc010jjw.1_Silent_p.G88G	NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	88	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|regulation of dopamine uptake|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	protein binding			ovary(2)	2	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)			Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)									0.170732	34.594385	47.214518	21	102	GG		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Silent	SNP	174802445	174802445	4940	5	G	T	T	34	34	DRD1	T	3	3
DRD1	1812	broad.mit.edu	36	5	174802555	174802555	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:174802555G>A	uc003mcz.1	-	c.154C>T	c.(154-156)CGA>TGA	p.R52*	DRD1_uc010jjw.1_Nonsense_Mutation_p.R52*	NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	52	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|regulation of dopamine uptake|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	protein binding			ovary(2)	2	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)			Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)									0.324607	162.187291	167.40017	62	129	GG		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Nonsense_Mutation	SNP	174802555	174802555	4940	5	G	A	A	39	39	DRD1	A	5	1
HRH2	3274	broad.mit.edu	36	5	175043789	175043789	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175043789C>A	uc003mdc.2	+	c.947C>A	c.(946-948)TCT>TAT	p.S316Y	HRH2_uc003mdd.1_Missense_Mutation_p.S316Y|HRH2_uc010jjx.1_Missense_Mutation_p.S316Y	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	316	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)			Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)									0.337302	203.461538	209.378844	85	167	CC		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Missense_Mutation	SNP	175043789	175043789	7648	5	C	A	A	32	32	HRH2	A	3	3
CLTB	1212	broad.mit.edu	36	5	175752528	175752528	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175752528C>T	uc003meh.1	-	c.543G>A	c.(541-543)AAG>AAA	p.K181K	CLTB_uc003mei.1_Silent_p.K163K	NM_007097	NP_009028	P09497	CLCB_HUMAN	clathrin, light polypeptide isoform b	181					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity				0	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)												0.152593	189.055101	267.043703	103	572	CC		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	Silent	SNP	175752528	175752528	3703	5	C	T	T	24	24	CLTB	T	2	2
CDHR2	54825	broad.mit.edu	36	5	175933738	175933738	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175933738G>T	uc003mem.1	+	c.454G>T	c.(454-456)GAC>TAC	p.D152Y	CDHR2_uc003men.1_Missense_Mutation_p.D152Y	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	152	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2												OREG0017077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.322581	69.800976	72.409335	30	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	175933738	175933738	3248	5	G	T	T	33	33	CDHR2	T	3	3
TSPAN17	26262	broad.mit.edu	36	5	176012352	176012352	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176012352C>A	uc003met.1	+	c.288C>A	c.(286-288)TTC>TTA	p.F96L	TSPAN17_uc003mes.2_Missense_Mutation_p.F30L|TSPAN17_uc003meu.1_Missense_Mutation_p.F96L|TSPAN17_uc003mev.1_Missense_Mutation_p.F96L|TSPAN17_uc003mew.1_Missense_Mutation_p.F96L	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	transmembrane 4 superfamily member 17 isoform a	96	Helical; (Potential).					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)												0.379009	332.829234	337.247237	130	213	CC		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	176012352	176012352	17192	5	C	A	A	32	32	TSPAN17	A	3	3
UNC5A	90249	broad.mit.edu	36	5	176233900	176233900	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176233900G>A	uc003mey.1	+	c.1105G>A	c.(1105-1107)GAC>AAC	p.D369N	UNC5A_uc010jkg.1_Missense_Mutation_p.D329N	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1	369	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane					0	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)												0.218638	132.509879	152.807378	61	218	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	176233900	176233900	17549	5	G	A	A	41	41	UNC5A	A	2	2
UNC5A	90249	broad.mit.edu	36	5	176238119	176238119	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176238119G>T	uc003mey.1	+	c.2057G>T	c.(2056-2058)CGG>CTG	p.R686L		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1	686	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane					0	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)												0.151899	37.988244	56.341502	24	134	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	176238119	176238119	17549	5	G	T	T	39	39	UNC5A	T	3	3
FGFR4	2264	broad.mit.edu	36	5	176450065	176450065	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176450065C>T	uc003mfl.1	+	c.160C>T	c.(160-162)CGT>TGT	p.R54C	FGFR4_uc003mfm.1_Missense_Mutation_p.R54C|FGFR4_uc003mfn.1_Missense_Mutation_p.R54C|FGFR4_uc003mfo.1_Missense_Mutation_p.R54C	NM_002011	NP_998812	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	54	Ig-like C2-type 1.|Extracellular (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(10)|breast(1)|central_nervous_system(1)|skin(1)	13	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)			Palifermin(DB00039)					219	TSP Lung(9;0.080)			0.174528	60.248552	81.444743	37	175	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	176450065	176450065	6105	5	C	T	T	27	27	FGFR4	T	1	1
FGFR4	2264	broad.mit.edu	36	5	176453084	176453084	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176453084C>T	uc003mfl.1	+	c.1323C>T	c.(1321-1323)AGC>AGT	p.S441S	FGFR4_uc003mfm.1_Silent_p.S441S|FGFR4_uc003mfo.1_Silent_p.S401S	NM_002011	NP_998812	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	441	Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(10)|breast(1)|central_nervous_system(1)|skin(1)	13	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)			Palifermin(DB00039)					219	TSP Lung(9;0.080)			0.144695	57.693111	95.473317	45	266	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	176453084	176453084	6105	5	C	T	T	27	27	FGFR4	T	1	1
NSD1	64324	broad.mit.edu	36	5	176495120	176495120	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176495120A>G	uc003mfr.2	+	c.410A>G	c.(409-411)GAA>GGA	p.E137G	NSD1_uc003mfp.2_Missense_Mutation_p.E137G|NSD1_uc003mft.2_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.E137G|NSD1_uc003mfq.2_Missense_Mutation_p.E137G	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	137					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)								492				0.190647	136.127858	160.97999	53	225	AA		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	Missense_Mutation	SNP	176495120	176495120	11074	5	A	G	G	9	9	NSD1	G	4	4
NSD1	64324	broad.mit.edu	36	5	176570904	176570904	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176570904G>T	uc003mfr.2	+	c.2898G>T	c.(2896-2898)GAG>GAT	p.E966D	NSD1_uc003mft.2_Missense_Mutation_p.E697D|NSD1_uc003mfs.1_Missense_Mutation_p.E863D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	966					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)								492				0.48855	176.677494	176.69292	64	67	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	Missense_Mutation	SNP	176570904	176570904	11074	5	G	T	T	33	33	NSD1	T	3	3
NSD1	64324	broad.mit.edu	36	5	176627319	176627319	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176627319G>A	uc003mfr.2	+	c.5297G>A	c.(5296-5298)CGA>CAA	p.R1766Q	NSD1_uc003mft.2_Missense_Mutation_p.R1497Q|NSD1_uc003mfs.1_Missense_Mutation_p.R1663Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1766	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)								492				0.36087	221.151841	225.074126	83	147	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	Missense_Mutation	SNP	176627319	176627319	11074	5	G	A	A	37	37	NSD1	A	1	1
NSD1	64324	broad.mit.edu	36	5	176654105	176654105	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176654105A>C	uc003mfr.2	+	c.7130A>C	c.(7129-7131)AAA>ACA	p.K2377T	NSD1_uc003mft.2_Missense_Mutation_p.K2108T	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2377	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)							p.K2377T(RKO-Tumor)	492				0.395604	221.468237	223.200727	72	110	AA		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	Missense_Mutation	SNP	176654105	176654105	11074	5	A	C	C	1	1	NSD1	C	4	4
NSD1	64324	broad.mit.edu	36	5	176654927	176654927	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176654927C>A	uc003mfr.2	+	c.7952C>A	c.(7951-7953)TCT>TAT	p.S2651Y	NSD1_uc003mft.2_Missense_Mutation_p.S2382Y	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2651					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)								492				0.195402	60.845158	75.907799	34	140	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	Missense_Mutation	SNP	176654927	176654927	11074	5	C	A	A	32	32	NSD1	A	3	3
SLC34A1	6569	broad.mit.edu	36	5	176747780	176747780	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176747780C>T	uc003mgk.2	+	c.824C>T	c.(823-825)ACG>ATG	p.T275M		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	275	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)												0.361963	152.072722	154.808721	59	104	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	176747780	176747780	15064	5	C	T	T	19	19	SLC34A1	T	1	1
PDLIM7	9260	broad.mit.edu	36	5	176849208	176849208	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176849208G>A	uc003mhc.1	-	c.661C>T	c.(661-663)CGC>TGC	p.R221C	PDLIM7_uc003mha.1_Missense_Mutation_p.R115C|PDLIM7_uc003mhb.1_Missense_Mutation_p.R187C|PDLIM7_uc003mhd.1_Missense_Mutation_p.R73C|PDLIM7_uc003mhe.1_Non-coding_Transcript|PDLIM7_uc003mhf.2_Missense_Mutation_p.P200L	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	221					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)												0.346154	24.26687	24.810304	9	17	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	176849208	176849208	12105	5	G	A	A	39	39	PDLIM7	A	1	1
DOK3	79930	broad.mit.edu	36	5	176867999	176867999	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176867999G>A	uc003mhk.1	-	c.385C>T	c.(385-387)CGC>TGC	p.R129C	DOK3_uc003mhh.2_5'UTR|DOK3_uc003mhi.2_Missense_Mutation_p.R73C|DOK3_uc003mhj.2_Intron|DOK3_uc003mhl.1_Missense_Mutation_p.R73C	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	docking protein 3 isoform 1	129	PH.					cytoplasm|plasma membrane	insulin receptor binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)												0.317073	33.959916	35.180104	13	28	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		Missense_Mutation	SNP	176867999	176867999	4882	5	G	A	A	39	39	DOK3	A	1	1
FAM193B	54540	broad.mit.edu	36	5	176898596	176898596	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176898596G>A	uc003mhs.2	-	c.30C>T	c.(28-30)GGC>GGT	p.G10G	FAM193B_uc003mht.1_5'Flank|FAM193B_uc003mhu.1_5'Flank|FAM193B_uc003mhv.1_5'UTR|FAM193B_uc003mhw.1_Non-coding_Transcript	NM_019057	NP_061930	Q6IPW0	Q6IPW0_HUMAN	hypothetical protein LOC54540	Error:Variant_position_missing_in_Q6IPW0_after_alignment											0														0.189655	79.253161	100.169052	44	188	GG		KEEP	---	---	---	---	capture			Silent	SNP	176898596	176898596	5736	5	G	A	A	38	38	FAM193B	A	1	1
N4BP3	23138	broad.mit.edu	36	5	177481179	177481179	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:177481179G>T	uc003mik.1	+	c.1206G>T	c.(1204-1206)AAG>AAT	p.K402N	N4BP3_uc003mil.1_Missense_Mutation_p.K71N	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	402	Potential.					cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)												0.403571	282.064754	284.354171	113	167	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	177481179	177481179	10508	5	G	T	T	33	33	N4BP3	T	3	3
COL23A1	91522	broad.mit.edu	36	5	177605567	177605567	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:177605567G>A	uc003mje.1	-	c.1422C>T	c.(1420-1422)CCC>CCT	p.P474P	COL23A1_uc010jkt.1_Silent_p.P356P	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	474	Extracellular (Potential).|Collagen-like 5.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)	1	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)												0.312236	204.985508	212.41427	74	163	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	Silent	SNP	177605567	177605567	3820	5	G	A	A	39	39	COL23A1	A	1	1
COL23A1	91522	broad.mit.edu	36	5	177621352	177621352	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:177621352G>T	uc003mje.1	-	c.679C>A	c.(679-681)CCA>ACA	p.P227T	COL23A1_uc010jkt.1_Silent_p.A74A	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	227	Extracellular (Potential).|Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)	1	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)												0.137681	24.758711	42.264139	19	119	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	Missense_Mutation	SNP	177621352	177621352	3820	5	G	T	T	43	43	COL23A1	T	3	3
CLK4	57396	broad.mit.edu	36	5	177972448	177972448	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:177972448A>C	uc003mjf.1	-	c.876T>G	c.(874-876)ATT>ATG	p.I292M	CLK4_uc003mjg.1_Missense_Mutation_p.I256M|CLK4_uc010jku.1_Missense_Mutation_p.I112M|CLK4_uc003mjh.1_Missense_Mutation_p.I112M|CLK4_uc010jkv.1_Non-coding_Transcript	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	292	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)								146				0.325397	257.672838	264.484261	82	170	AA		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	Missense_Mutation	SNP	177972448	177972448	3677	5	A	C	C	1	1	CLK4	C	4	4
CLK4	57396	broad.mit.edu	36	5	177978324	177978324	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:177978324C>A	uc003mjf.1	-	c.223G>T	c.(223-225)GAA>TAA	p.E75*	CLK4_uc003mjg.1_Nonsense_Mutation_p.E39*|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc003mji.2_Nonsense_Mutation_p.E75*	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	75						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)								146				0.368263	347.759092	352.844595	123	211	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	Nonsense_Mutation	SNP	177978324	177978324	3677	5	C	A	A	31	31	CLK4	A	5	3
ZNF354A	6940	broad.mit.edu	36	5	178071917	178071917	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178071917C>T	uc003mjj.1	-	c.1568G>A	c.(1567-1569)CGA>CAA	p.R523Q		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	523	C2H2-type 11.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)	2	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)												0.189112	124.028673	155.61039	66	283	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	Missense_Mutation	SNP	178071917	178071917	18456	5	C	T	T	31	31	ZNF354A	T	1	1
ZNF354A	6940	broad.mit.edu	36	5	178072112	178072112	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178072112C>T	uc003mjj.1	-	c.1373G>A	c.(1372-1374)CGA>CAA	p.R458Q		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	458	C2H2-type 8.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)	2	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)												0.139881	62.791039	104.889689	47	289	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	Missense_Mutation	SNP	178072112	178072112	18456	5	C	T	T	31	31	ZNF354A	T	1	1
ZNF354A	6940	broad.mit.edu	36	5	178072269	178072269	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178072269C>T	uc003mjj.1	-	c.1216G>A	c.(1216-1218)GGA>AGA	p.G406R		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	406					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)	2	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)												0.333333	203.480288	208.939484	74	148	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	Missense_Mutation	SNP	178072269	178072269	18456	5	C	T	T	23	23	ZNF354A	T	1	1
ZFP2	80108	broad.mit.edu	36	5	178291345	178291345	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178291345G>A	uc003mjn.1	+	c.425G>A	c.(424-426)CGA>CAA	p.R142Q	ZFP2_uc010jkx.1_Missense_Mutation_p.R142Q|ZFP2_uc010jky.1_Missense_Mutation_p.R142Q	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	142	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)												0.254777	93.521429	102.091544	40	117	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	Missense_Mutation	SNP	178291345	178291345	18229	5	G	A	A	37	37	ZFP2	A	1	1
ZFP2	80108	broad.mit.edu	36	5	178291904	178291904	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178291904T>C	uc003mjn.1	+	c.984T>C	c.(982-984)TGT>TGC	p.C328C	ZFP2_uc010jkx.1_Silent_p.C328C|ZFP2_uc010jky.1_Silent_p.C328C	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	328	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)												0.146018	67.249998	94.45174	33	193	TT		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	Silent	SNP	178291904	178291904	18229	5	T	C	C	57	57	ZFP2	C	4	4
GRM6	2916	broad.mit.edu	36	5	178345934	178345934	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178345934C>T	uc003mjr.1	-	c.1927G>A	c.(1927-1929)GCT>ACT	p.A643T	GRM6_uc003mjq.1_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.A226T|GRM6_uc003mjs.1_Missense_Mutation_p.A263T	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	643	Helical; Name=2; (Potential).				detection of visible light|visual perception	integral to plasma membrane				ovary(2)|breast(1)|pancreas(1)	4	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)												0.435484	75.037326	75.257125	27	35	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	Missense_Mutation	SNP	178345934	178345934	7080	5	C	T	T	26	26	GRM6	T	2	2
ZNF354C	30832	broad.mit.edu	36	5	178438485	178438485	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178438485C>T	uc003mju.1	+	c.446C>T	c.(445-447)TCG>TTG	p.S149L		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)												0.518828	360.787557	360.860529	124	115	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	Missense_Mutation	SNP	178438485	178438485	18458	5	C	T	T	31	31	ZNF354C	T	1	1
ZNF354C	30832	broad.mit.edu	36	5	178438781	178438781	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178438781G>A	uc003mju.1	+	c.742G>A	c.(742-744)GAG>AAG	p.E248K		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	248	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)												0.483516	243.770629	243.814328	88	94	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	Missense_Mutation	SNP	178438781	178438781	18458	5	G	A	A	45	45	ZNF354C	A	2	2
ADAMTS2	9509	broad.mit.edu	36	5	178473915	178473915	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178473915G>A	uc003mjw.1	-	c.3195C>T	c.(3193-3195)GGC>GGT	p.G1065G		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1065	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)								1974				0.445946	86.762839	86.950761	33	41	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	Silent	SNP	178473915	178473915	266	5	G	A	A	38	38	ADAMTS2	A	1	1
ADAMTS2	9509	broad.mit.edu	36	5	178492401	178492401	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178492401C>T	uc003mjw.1	-	c.2192G>A	c.(2191-2193)CGG>CAG	p.R731Q		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	731	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)							p.R731P(NCIH1651-Tumor)	1974				0.125654	30.573791	56.706797	24	167	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	Missense_Mutation	SNP	178492401	178492401	266	5	C	T	T	23	23	ADAMTS2	T	1	1
ADAMTS2	9509	broad.mit.edu	36	5	178499531	178499531	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178499531C>T	uc003mjw.1	-	c.1741G>A	c.(1741-1743)GTG>ATG	p.V581M		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	581	TSP type-1 1.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)							p.V581M(HEC59-Tumor)	1974				0.176744	62.120513	83.299046	38	177	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	Missense_Mutation	SNP	178499531	178499531	266	5	C	T	T	19	19	ADAMTS2	T	1	1
ADAMTS2	9509	broad.mit.edu	36	5	178632607	178632607	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178632607G>A	uc003mjw.1	-	c.599C>T	c.(598-600)GCG>GTG	p.A200V	ADAMTS2_uc003mjx.1_Missense_Mutation_p.A200V	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	200					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)								1974				0.304762	154.434604	161.569959	64	146	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	Missense_Mutation	SNP	178632607	178632607	266	5	G	A	A	38	38	ADAMTS2	A	1	1
CANX	821	broad.mit.edu	36	5	179068634	179068634	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179068634A>C	uc003mkk.1	+	c.496A>C	c.(496-498)AAA>CAA	p.K166Q	CANX_uc010jlb.1_Missense_Mutation_p.K102Q|CANX_uc003mkl.1_Missense_Mutation_p.K166Q	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	166	Lumenal (Potential).	Carbohydrate (By similarity).			post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)			Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.198582	73.830539	85.743236	28	113	AA		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	179068634	179068634	2735	5	A	C	C	9	9	CANX	C	4	4
CANX	821	broad.mit.edu	36	5	179086286	179086286	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179086286G>A	uc003mkk.1	+	c.1646_splice	c.e14-1	p.E549_splice	CANX_uc003mkl.1_Splice_Site_SNP_p.E549_splice	NM_001746	NP_001737			calnexin precursor						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)			Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.204819	37.921326	44.638316	17	66	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Splice_Site_SNP	SNP	179086286	179086286	2735	5	G	A	A	33	33	CANX	A	5	2
MAML1	9794	broad.mit.edu	36	5	179125413	179125413	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179125413G>T	uc003mkm.1	+	c.796G>T	c.(796-798)GAC>TAC	p.D266Y	MAML1_uc003mkn.1_Missense_Mutation_p.D266Y	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	266					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(3)|ovary(2)	5	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)								189				0.336634	163.407902	168.19132	68	134	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	179125413	179125413	9588	5	G	T	T	33	33	MAML1	T	3	3
MAML1	9794	broad.mit.edu	36	5	179125799	179125799	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179125799C>A	uc003mkm.1	+	c.1182C>A	c.(1180-1182)TCC>TCA	p.S394S	MAML1_uc003mkn.1_Silent_p.S394S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	394					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(3)|ovary(2)	5	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)								189				0.55157	349.906622	350.418978	123	100	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	179125799	179125799	9588	5	C	A	A	24	24	MAML1	A	3	3
MAML1	9794	broad.mit.edu	36	5	179126313	179126313	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179126313A>C	uc003mkm.1	+	c.1696A>C	c.(1696-1698)AAT>CAT	p.N566H	MAML1_uc003mkn.1_Missense_Mutation_p.N566H	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	566					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(3)|ovary(2)	5	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)								189				0.191176	64.783494	76.892595	26	110	AA		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	179126313	179126313	9588	5	A	C	C	1	1	MAML1	C	4	4
SQSTM1	8878	broad.mit.edu	36	5	179182645	179182645	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179182645G>A	uc003mkw.2	+	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	SQSTM1_uc003mku.1_Missense_Mutation_p.R12Q|SQSTM1_uc003mkv.2_Missense_Mutation_p.R96Q|SQSTM1_uc003mkx.1_Missense_Mutation_p.R12Q	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1	96	OPR.|Interaction with PRKCZ and dimerization (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)												0.235955	45.925256	51.603048	21	68	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	179182645	179182645	15644	5	G	A	A	37	37	SQSTM1	A	1	1
SQSTM1	8878	broad.mit.edu	36	5	179183835	179183835	+	Missense_Mutation	SNP	C	A	A	rs527602	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179183835C>A	uc003mkw.2	+	c.579C>A	c.(577-579)TTC>TTA	p.F193L	SQSTM1_uc003mku.1_Missense_Mutation_p.F109L|SQSTM1_uc003mkv.2_Missense_Mutation_p.F193L|SQSTM1_uc003mkx.1_Missense_Mutation_p.F109L	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1	193	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)												0.13369	31.349107	55.711589	25	162	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	179183835	179183835	15644	5	C	A	A	31	31	SQSTM1	A	3	3
C5orf45	51149	broad.mit.edu	36	5	179201663	179201663	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179201663G>A	uc003mla.1	-	c.299C>T	c.(298-300)TCG>TTG	p.S100L	C5orf45_uc003mky.1_Missense_Mutation_p.S97L|C5orf45_uc003mlc.1_Missense_Mutation_p.S45L|C5orf45_uc003mlb.1_5'UTR	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	hypothetical protein LOC51149 isoform 1	100											0														0.346701	699.802272	715.868121	268	505	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179201663	179201663	2402	5	G	A	A	37	37	C5orf45	A	1	1
TBC1D9B	23061	broad.mit.edu	36	5	179223722	179223722	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179223722C>A	uc003mlh.1	-	c.3085G>T	c.(3085-3087)GAG>TAG	p.E1029*	TBC1D9B_uc003mlf.1_Nonsense_Mutation_p.E103*|TBC1D9B_uc003mlg.1_Nonsense_Mutation_p.E188*|TBC1D9B_uc003mli.1_Nonsense_Mutation_p.E1012*|TBC1D9B_uc003mlj.1_Nonsense_Mutation_p.E1011*	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1029						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)	1	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)												0.478723	127.855473	127.893165	45	49	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Nonsense_Mutation	SNP	179223722	179223722	16154	5	C	A	A	29	29	TBC1D9B	A	5	3
TBC1D9B	23061	broad.mit.edu	36	5	179234762	179234762	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179234762C>T	uc003mlh.1	-	c.1932G>A	c.(1930-1932)GAG>GAA	p.E644E	TBC1D9B_uc003mli.1_Silent_p.E644E|TBC1D9B_uc003mlj.1_Silent_p.E644E	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	644	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)	1	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)												0.163265	43.15351	58.964914	24	123	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	179234762	179234762	16154	5	C	T	T	28	28	TBC1D9B	T	2	2
MAPK9	5601	broad.mit.edu	36	5	179596028	179596028	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179596028G>T	uc003mls.2	-	c.1237C>A	c.(1237-1239)CTT>ATT	p.L413I	MAPK9_uc003mlt.2_3'UTR|MAPK9_uc003mlv.2_3'UTR|MAPK9_uc003mlu.2_Missense_Mutation_p.L413I|MAPK9_uc010jlc.1_Missense_Mutation_p.L413I	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	413					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|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|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-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)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)								167				0.316456	120.377583	125.120097	50	108	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	179596028	179596028	9670	5	G	T	T	33	33	MAPK9	T	3	3
GFPT2	9945	broad.mit.edu	36	5	179676429	179676429	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179676429G>A	uc003mlw.1	-	c.1093C>T	c.(1093-1095)CGA>TGA	p.R365*		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	365	SIS 1.				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)	1	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)			L-Glutamine(DB00130)									0.342593	96.339459	98.704852	37	71	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Nonsense_Mutation	SNP	179676429	179676429	6614	5	G	A	A	37	37	GFPT2	A	5	1
GFPT2	9945	broad.mit.edu	36	5	179690359	179690359	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179690359C>A	uc003mlw.1	-	c.481G>T	c.(481-483)GAA>TAA	p.E161*		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	161	Glutamine amidotransferase type-2.				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)	1	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)			L-Glutamine(DB00130)									0.19898	73.207691	89.744609	39	157	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Nonsense_Mutation	SNP	179690359	179690359	6614	5	C	A	A	32	32	GFPT2	A	5	3
GFPT2	9945	broad.mit.edu	36	5	179696092	179696092	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179696092T>C	uc003mlw.1	-	c.207A>G	c.(205-207)GAA>GAG	p.E69E		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	69	Glutamine amidotransferase type-2.				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)	1	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)			L-Glutamine(DB00130)									0.485043	745.52677	745.61624	227	241	TT		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	179696092	179696092	6614	5	T	C	C	60	60	GFPT2	C	4	4
GFPT2	9945	broad.mit.edu	36	5	179698191	179698191	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179698191A>G	uc003mlw.1	-	c.23T>C	c.(22-24)ATG>ACG	p.M8T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	8	Glutamine amidotransferase type-2.				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)	1	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)			L-Glutamine(DB00130)									0.214286	34.588305	39.865753	15	55	AA		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	179698191	179698191	6614	5	A	G	G	8	8	GFPT2	G	4	4
FLT4	2324	broad.mit.edu	36	5	179962885	179962885	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179962885G>A	uc003mlz.2	-	c.4005C>T	c.(4003-4005)AGC>AGT	p.S1335S		NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	Error:Variant_position_missing_in_P35916_after_alignment					positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|vascular endothelial growth factor receptor activity			lung(3)|ovary(1)|central_nervous_system(1)|kidney(1)|skin(1)	7	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)			Sorafenib(DB00398)|Sunitinib(DB01268)	Colon(97;1075 1466 27033 27547 35871)				2638				0.533333	131.820247	131.910759	48	42	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Silent	SNP	179962885	179962885	6186	5	G	A	A	38	38	FLT4	A	1	1
OR2Y1	134083	broad.mit.edu	36	5	180098924	180098924	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180098924A>C	uc003mmf.1	-	c.741T>G	c.(739-741)GTT>GTG	p.V247V		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)												0.206972	224.040739	260.615507	95	364	AA		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	180098924	180098924	11441	5	A	C	C	1	1	OR2Y1	C	4	4
OR2Y1	134083	broad.mit.edu	36	5	180099003	180099003	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180099003G>A	uc003mmf.1	-	c.662C>T	c.(661-663)GCT>GTT	p.A221V		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)												0.153266	96.733914	142.502278	61	337	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	180099003	180099003	11441	5	G	A	A	34	34	OR2Y1	A	2	2
OR2Y1	134083	broad.mit.edu	36	5	180099227	180099227	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180099227G>A	uc003mmf.1	-	c.438C>T	c.(436-438)ATC>ATT	p.I146I		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)												0.33913	101.437299	104.045941	39	76	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	180099227	180099227	11441	5	G	A	A	37	37	OR2Y1	A	1	1
OR2Y1	134083	broad.mit.edu	36	5	180099521	180099521	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180099521G>A	uc003mmf.1	-	c.144C>T	c.(142-144)CTC>CTT	p.L48L		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)												0.253521	89.227586	97.062269	36	106	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	180099521	180099521	11441	5	G	A	A	33	33	OR2Y1	A	2	2
BTNL3	10917	broad.mit.edu	36	5	180352453	180352453	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180352453C>T	uc003mmr.1	+	c.84C>T	c.(82-84)GTC>GTT	p.V28V	BTNL8_uc010jln.1_Intron	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	28	Extracellular (Potential).				lipid metabolic process	integral to membrane					0	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)												0.932961	533.648446	559.488033	167	12	CC		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		Silent	SNP	180352453	180352453	1600	5	C	T	T	30	30	BTNL3	T	2	2
BTNL3	10917	broad.mit.edu	36	5	180365288	180365288	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180365288C>A	uc003mmr.1	+	c.1211C>A	c.(1210-1212)CCT>CAT	p.P404H	BTNL3_uc010jlp.1_Missense_Mutation_p.P189H	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	404	B30.2/SPRY.|Cytoplasmic (Potential).				lipid metabolic process	integral to membrane					0	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)												0.313636	171.481169	178.289433	69	151	CC		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		Missense_Mutation	SNP	180365288	180365288	1600	5	C	A	A	24	24	BTNL3	A	3	3
TRIM7	81786	broad.mit.edu	36	5	180554988	180554988	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180554988G>A	uc003mmz.1	-	c.1320C>T	c.(1318-1320)GGC>GGT	p.G440G	TRIM7_uc003mmv.1_Silent_p.G258G|TRIM7_uc003mmw.1_Silent_p.G232G|TRIM7_uc003mmy.1_Silent_p.G232G|TRIM7_uc003mmx.1_Silent_p.G232G	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	440	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(1)|skin(1)	2	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)				Esophageal Squamous(128;2258 2308 35507 48647)								0.44	28.71513	28.794404	11	14	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	Silent	SNP	180554988	180554988	17092	5	G	A	A	42	42	TRIM7	A	2	2
TRIM7	81786	broad.mit.edu	36	5	180557819	180557819	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180557819G>T	uc003mmz.1	-	c.994C>A	c.(994-996)CTT>ATT	p.L332I	TRIM7_uc003mmv.1_Missense_Mutation_p.L150I|TRIM7_uc003mmw.1_Missense_Mutation_p.L124I|TRIM7_uc003mmy.1_Missense_Mutation_p.L124I|TRIM7_uc003mmx.1_Missense_Mutation_p.L124I	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	332	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(1)|skin(1)	2	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)				Esophageal Squamous(128;2258 2308 35507 48647)								0.246575	40.409301	44.681302	18	55	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	Missense_Mutation	SNP	180557819	180557819	17092	5	G	T	T	35	35	TRIM7	T	3	3
GNB2L1	10399	broad.mit.edu	36	5	180603369	180603369	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180603369C>T	uc003mni.1	-	c.38G>A	c.(37-39)GGC>GAC	p.G13D	GNB2L1_uc010jlr.1_5'Flank|GNB2L1_uc003mnh.1_5'UTR|GNB2L1_uc003mnk.1_5'UTR|GNB2L1_uc003mnj.1_5'UTR|GNB2L1_uc003mnl.1_5'Flank|GNB2L1_uc010jls.1_5'UTR|SNORD96A_uc010jlt.1_5'Flank|SNORD95_uc003mnn.1_5'Flank	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	13	WD 1.				negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization	dendrite|midbody|neuronal cell body|nucleus|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)												0.454545	43.622256	43.681393	15	18	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)	Missense_Mutation	SNP	180603369	180603369	6787	5	C	T	T	26	26	GNB2L1	T	2	2
TRIM52	84851	broad.mit.edu	36	5	180620344	180620344	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180620344T>C	uc003mnp.1	-	c.77A>G	c.(76-78)TAC>TGC	p.Y26C		NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	26	RING-type.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)												0.510791	243.841326	243.855957	71	68	TT		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	Missense_Mutation	SNP	180620344	180620344	17073	5	T	C	C	57	57	TRIM52	C	4	4
CDH18	1016	broad.mit.edu	36	5	19509125	19509125	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19509125G>T	uc003jgc.1	-	c.2340C>A	c.(2338-2340)CTC>CTA	p.L780L	CDH18_uc003jgd.1_Silent_p.L780L|CDH18_uc010iua.1_Silent_p.L780L|CDH18_uc010itz.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	780	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.181034	70.5911	92.801235	42	190	GG		KEEP	---	---	---	---	capture			Silent	SNP	19509125	19509125	3232	5	G	T	T	33	33	CDH18	T	3	3
CDH18	1016	broad.mit.edu	36	5	19509374	19509374	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19509374G>A	uc003jgc.1	-	c.2091C>T	c.(2089-2091)CTC>CTT	p.L697L	CDH18_uc003jgd.1_Silent_p.L697L|CDH18_uc010iua.1_Silent_p.L697L|CDH18_uc010itz.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	697	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.26455	114.249889	123.732691	50	139	GG		KEEP	---	---	---	---	capture			Silent	SNP	19509374	19509374	3232	5	G	A	A	45	45	CDH18	A	2	2
CDH18	1016	broad.mit.edu	36	5	19519419	19519419	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19519419C>A	uc003jgc.1	-	c.1631_splice	c.e11-1	p.D544_splice	CDH18_uc003jgd.1_Splice_Site_SNP_p.D544_splice|CDH18_uc010iua.1_Splice_Site_SNP_p.D544_splice|CDH18_uc010itz.1_Intron	NM_004934	NP_004925			cadherin 18, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.217391	46.598941	55.085489	25	90	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	19519419	19519419	3232	5	C	A	A	32	32	CDH18	A	5	3
CDH18	1016	broad.mit.edu	36	5	19607479	19607479	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19607479C>T	uc003jgc.1	-	c.1219G>A	c.(1219-1221)GCA>ACA	p.A407T	CDH18_uc003jgd.1_Missense_Mutation_p.A407T|CDH18_uc010iua.1_Missense_Mutation_p.A407T|CDH18_uc010itz.1_Missense_Mutation_p.A407T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	407	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.157025	63.883138	91.056091	38	204	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19607479	19607479	3232	5	C	T	T	26	26	CDH18	T	2	2
CDH18	1016	broad.mit.edu	36	5	19607628	19607628	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19607628C>T	uc003jgc.1	-	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H	CDH18_uc003jgd.1_Missense_Mutation_p.R357H|CDH18_uc010iua.1_Missense_Mutation_p.R357H|CDH18_uc010itz.1_Missense_Mutation_p.R357H	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	357	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.425926	187.843198	188.618977	69	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19607628	19607628	3232	5	C	T	T	27	27	CDH18	T	1	1
PLEKHG4B	153478	broad.mit.edu	36	5	209191	209191	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:209191C>T	uc003jak.2	+	c.1146C>T	c.(1144-1146)GTC>GTT	p.V382V		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	382					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1														0.457831	214.581938	214.838362	76	90	CC		KEEP	---	---	---	---	capture	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	Silent	SNP	209191	209191	12498	5	C	T	T	31	31	PLEKHG4B	T	1	1
PLEKHG4B	153478	broad.mit.edu	36	5	216451	216451	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:216451A>G	uc003jak.2	+	c.2196A>G	c.(2194-2196)ATA>ATG	p.I732M		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	732					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1														0.299003	274.474983	285.318814	90	211	AA		KEEP	---	---	---	---	capture	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	Missense_Mutation	SNP	216451	216451	12498	5	A	G	G	14	14	PLEKHG4B	G	4	4
CDH12	1010	broad.mit.edu	36	5	21791504	21791504	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:21791504C>T	uc010iuc.1	-	c.1838G>A	c.(1837-1839)AGC>AAC	p.S613N	CDH12_uc003jgk.1_Missense_Mutation_p.S613N	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	613	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.263636	68.617987	74.18065	29	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21791504	21791504	3227	5	C	T	T	28	28	CDH12	T	2	2
CDH12	1010	broad.mit.edu	36	5	21796527	21796527	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:21796527G>A	uc010iuc.1	-	c.1530C>T	c.(1528-1530)GTC>GTT	p.V510V	CDH12_uc003jgk.1_Silent_p.V510V	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	510	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.217391	155.510888	180.945149	75	270	GG		KEEP	---	---	---	---	capture			Silent	SNP	21796527	21796527	3227	5	G	A	A	45	45	CDH12	A	2	2
CDH12	1010	broad.mit.edu	36	5	21878141	21878141	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:21878141G>A	uc010iuc.1	-	c.700C>T	c.(700-702)CAA>TAA	p.Q234*	CDH12_uc003jgk.1_Nonsense_Mutation_p.Q234*	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	234	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.201923	81.221056	98.407022	42	166	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	21878141	21878141	3227	5	G	A	A	45	45	CDH12	A	5	2
CDH12	1010	broad.mit.edu	36	5	22011153	22011153	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:22011153G>T	uc010iuc.1	-	c.330C>A	c.(328-330)GAC>GAA	p.D110E	CDH12_uc003jgk.1_Missense_Mutation_p.D110E	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	110	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.408946	361.521339	363.793441	128	185	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22011153	22011153	3227	5	G	T	T	48	48	CDH12	T	3	3
PLEKHG4B	153478	broad.mit.edu	36	5	234778	234778	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:234778G>A	uc003jak.2	+	c.3484G>A	c.(3484-3486)GTC>ATC	p.V1162I		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1162					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1														0.224359	70.352729	81.242937	35	121	GG		KEEP	---	---	---	---	capture	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	Missense_Mutation	SNP	234778	234778	12498	5	G	A	A	40	40	PLEKHG4B	A	1	1
PLEKHG4B	153478	broad.mit.edu	36	5	235248	235248	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:235248C>T	uc003jak.2	+	c.3626C>T	c.(3625-3627)TCG>TTG	p.S1209L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1209	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1														0.463964	283.213058	283.461688	103	119	CC		KEEP	---	---	---	---	capture	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	Missense_Mutation	SNP	235248	235248	12498	5	C	T	T	31	31	PLEKHG4B	T	1	1
PRDM9	56979	broad.mit.edu	36	5	23558548	23558548	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:23558548G>A	uc003jgo.1	+	c.679G>A	c.(679-681)GAC>AAC	p.D227N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	227					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														0.235294	54.102594	60.602985	24	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23558548	23558548	12906	5	G	A	A	41	41	PRDM9	A	2	2
CDH10	1008	broad.mit.edu	36	5	24534303	24534303	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:24534303G>T	uc003jgr.1	-	c.1476C>A	c.(1474-1476)TTC>TTA	p.F492L		NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	492	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12														0.174497	43.146581	58.057408	26	123	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(35;0.0556)	Missense_Mutation	SNP	24534303	24534303	3225	5	G	T	T	33	33	CDH10	T	3	3
LRRC14B	389257	broad.mit.edu	36	5	245467	245467	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:245467G>A	uc003jal.1	+	c.814G>A	c.(814-816)GCC>ACC	p.A272T		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	hypothetical protein LOC389257	272										skin(1)	1														0.470588	21.296522	21.309439	8	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	245467	245467	9343	5	G	A	A	38	38	LRRC14B	A	1	1
CDH10	1008	broad.mit.edu	36	5	24629286	24629286	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:24629286A>T	uc003jgr.1	-	c.71T>A	c.(70-72)ATA>AAA	p.I24K		NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	24					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12														0.21519	117.513383	135.246028	51	186	AA		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(35;0.0556)	Missense_Mutation	SNP	24629286	24629286	3225	5	A	T	T	16	16	CDH10	T	4	4
CCDC127	133957	broad.mit.edu	36	5	258940	258940	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:258940G>A	uc003jam.1	-	c.255C>T	c.(253-255)GTC>GTT	p.V85V		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	85	Potential.										0														0.453552	233.204062	233.546996	83	100	GG		KEEP	---	---	---	---	capture	all cancers(22;0.0236)|Lung(60;0.113)		Silent	SNP	258940	258940	2883	5	G	A	A	37	37	CCDC127	A	1	1
CDH9	1007	broad.mit.edu	36	5	26939686	26939686	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:26939686C>T	uc003jgs.1	-	c.816G>A	c.(814-816)ACG>ACA	p.T272T	CDH9_uc010iug.1_Silent_p.T272T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	272	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.16568	46.903977	64.820514	28	141	CC		KEEP	---	---	---	---	capture			Silent	SNP	26939686	26939686	3246	5	C	T	T	19	19	CDH9	T	1	1
CDH9	1007	broad.mit.edu	36	5	26942612	26942612	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:26942612G>T	uc003jgs.1	-	c.616C>A	c.(616-618)CCA>ACA	p.P206T	CDH9_uc010iug.1_Missense_Mutation_p.P206T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	206	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.15528	38.063925	56.351974	25	136	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26942612	26942612	3246	5	G	T	T	42	42	CDH9	T	3	3
C5orf38	153571	broad.mit.edu	36	5	2805764	2805764	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:2805764G>T	uc003jdc.1	+	c.229G>T	c.(229-231)GAT>TAT	p.D77Y	IRX2_uc003jda.2_5'Flank|IRX2_uc003jdb.1_5'Flank	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571	77						extracellular region					0														0.210909	115.403734	136.667755	58	217	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(108;0.205)	Missense_Mutation	SNP	2805764	2805764	2394	5	G	T	T	45	45	C5orf38	T	3	3
C5orf22	55322	broad.mit.edu	36	5	31574424	31574424	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:31574424T>C	uc003jhj.2	+	c.678T>C	c.(676-678)AAT>AAC	p.N226N	C5orf22_uc003jhk.2_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	226										ovary(2)	2														0.151899	22.953699	32.113878	12	67	TT		KEEP	---	---	---	---	capture			Silent	SNP	31574424	31574424	2383	5	T	C	C	50	50	C5orf22	C	4	4
C5orf22	55322	broad.mit.edu	36	5	31588707	31588707	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:31588707C>T	uc003jhj.2	+	c.1270C>T	c.(1270-1272)CGT>TGT	p.R424C	C5orf22_uc003jhk.2_Missense_Mutation_p.R159C|C5orf22_uc010iuj.1_Missense_Mutation_p.R159C	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	424										ovary(2)	2														0.435484	295.453506	296.354257	108	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31588707	31588707	2383	5	C	T	T	19	19	C5orf22	T	1	1
PDZD2	23037	broad.mit.edu	36	5	32019057	32019057	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32019057C>T	uc003jhl.1	+	c.516C>T	c.(514-516)TAC>TAT	p.Y172Y	PDZD2_uc003jhm.1_Silent_p.Y172Y	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	172	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.160256	42.483214	59.623021	25	131	CC		KEEP	---	---	---	---	capture			Silent	SNP	32019057	32019057	12122	5	C	T	T	18	18	PDZD2	T	2	2
PDZD2	23037	broad.mit.edu	36	5	32036116	32036116	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32036116G>T	uc003jhl.1	+	c.1236G>T	c.(1234-1236)CAG>CAT	p.Q412H	PDZD2_uc003jhm.1_Missense_Mutation_p.Q412H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	412	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.385	208.120345	210.440702	77	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32036116	32036116	12122	5	G	T	T	34	34	PDZD2	T	3	3
PDZD2	23037	broad.mit.edu	36	5	32046256	32046256	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32046256G>A	uc003jhl.1	+	c.1318G>A	c.(1318-1320)GTA>ATA	p.V440I	PDZD2_uc003jhm.1_Missense_Mutation_p.V440I	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	440					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.244813	130.799648	145.10361	59	182	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32046256	32046256	12122	5	G	A	A	44	44	PDZD2	A	2	2
PDZD2	23037	broad.mit.edu	36	5	32096933	32096933	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32096933C>T	uc003jhl.1	+	c.2387C>T	c.(2386-2388)GCC>GTC	p.A796V	PDZD2_uc003jhm.1_Missense_Mutation_p.A796V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	796	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.184615	47.773999	59.863991	24	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32096933	32096933	12122	5	C	T	T	26	26	PDZD2	T	2	2
PDZD2	23037	broad.mit.edu	36	5	32124992	32124992	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32124992C>T	uc003jhl.1	+	c.5681C>T	c.(5680-5682)GCC>GTC	p.A1894V	PDZD2_uc003jhm.1_Missense_Mutation_p.A1894V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1894					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.36715	197.009783	200.234748	76	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32124992	32124992	12122	5	C	T	T	26	26	PDZD2	T	2	2
MTMR12	54545	broad.mit.edu	36	5	32265945	32265945	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32265945A>C	uc003jhq.1	-	c.1940T>G	c.(1939-1941)ATT>AGT	p.I647S	MTMR12_uc010iuk.1_Missense_Mutation_p.I593S|MTMR12_uc010iul.1_Missense_Mutation_p.I537S	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	647						cytoplasm	phosphatase activity			ovary(1)	1														0.432584	508.369916	509.783505	154	202	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32265945	32265945	10334	5	A	C	C	4	4	MTMR12	C	4	4
MTMR12	54545	broad.mit.edu	36	5	32275022	32275022	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32275022C>T	uc003jhq.1	-	c.1186G>A	c.(1186-1188)GAC>AAC	p.D396N	MTMR12_uc010iuk.1_Missense_Mutation_p.D396N|MTMR12_uc010iul.1_Missense_Mutation_p.D396N	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	396	Myotubularin phosphatase.					cytoplasm	phosphatase activity			ovary(1)	1														0.350427	107.541191	109.849629	41	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32275022	32275022	10334	5	C	T	T	31	31	MTMR12	T	1	1
ZFR	51663	broad.mit.edu	36	5	32421466	32421466	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32421466G>A	uc003jhr.1	-	c.2546C>T	c.(2545-2547)GCG>GTG	p.A849V	ZFR_uc010ium.1_5'Flank	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	849	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0														0.443262	345.230757	346.021654	125	157	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(35;0.19)	Missense_Mutation	SNP	32421466	32421466	18249	5	G	A	A	38	38	ZFR	A	1	1
NPR3	4883	broad.mit.edu	36	5	32748406	32748406	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32748406G>T	uc003jhv.1	+	c.767G>T	c.(766-768)AGA>ATA	p.R256I	NPR3_uc010iuo.1_Intron|NPR3_uc003jhu.1_Missense_Mutation_p.R256I	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	256	Extracellular (Potential).				diuresis|osteoclast proliferation|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)									0.184874	70.788939	93.063016	44	194	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32748406	32748406	11001	5	G	T	T	33	33	NPR3	T	3	3
NPR3	4883	broad.mit.edu	36	5	32816620	32816620	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32816620G>T	uc003jhv.1	+	c.1231G>T	c.(1231-1233)GAC>TAC	p.D411Y	NPR3_uc010iuo.1_Missense_Mutation_p.D195Y|NPR3_uc003jhu.1_Missense_Mutation_p.D411Y	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	411	Extracellular (Potential).				diuresis|osteoclast proliferation|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)									0.190476	156.99873	198.417355	88	374	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32816620	32816620	11001	5	G	T	T	33	33	NPR3	T	3	3
TARS	6897	broad.mit.edu	36	5	33476990	33476990	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:33476990G>A	uc003jhy.1	+	c.41G>A	c.(40-42)GGA>GAA	p.G14E	TARS_uc010iup.1_5'UTR|TARS_uc003jhz.1_5'UTR	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	14					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)									0.178261	72.865506	95.271418	41	189	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33476990	33476990	16081	5	G	A	A	41	41	TARS	A	2	2
ADAMTS12	81792	broad.mit.edu	36	5	33563122	33563122	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:33563122A>G	uc003jia.1	-	c.4713T>C	c.(4711-4713)TGT>TGC	p.C1571C	ADAMTS12_uc010iuq.1_Silent_p.C1486C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1571	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.494186	567.66511	567.674512	170	174	AA		KEEP	---	---	---	---	capture			Silent	SNP	33563122	33563122	258	5	A	G	G	10	10	ADAMTS12	G	4	4
RXFP3	51289	broad.mit.edu	36	5	33973561	33973561	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:33973561G>T	uc003jic.1	+	c.959G>T	c.(958-960)AGA>ATA	p.R320I		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	320	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0														0.529412	50.447382	50.472697	18	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33973561	33973561	14241	5	G	T	T	33	33	RXFP3	T	3	3
SLC45A2	51151	broad.mit.edu	36	5	34020182	34020182	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:34020182G>A	uc003jid.1	-	c.264C>T	c.(262-264)GTC>GTT	p.V88V	SLC45A2_uc003jie.1_Silent_p.V88V|SLC45A2_uc003jif.2_Silent_p.V88V	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	88	Helical; Name=2; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)	2						Ovarian(31;380 859 8490 22203 49048)								0.296296	56.166166	59.174145	24	57	GG		KEEP	---	---	---	---	capture			Silent	SNP	34020182	34020182	15138	5	G	A	A	37	37	SLC45A2	A	1	1
RAI14	26064	broad.mit.edu	36	5	34831827	34831827	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:34831827A>G	uc003jir.1	+	c.194A>G	c.(193-195)CAC>CGC	p.H65R	RAI14_uc010iur.1_Missense_Mutation_p.H65R|RAI14_uc010ius.1_5'UTR|RAI14_uc003jis.1_Missense_Mutation_p.H68R|RAI14_uc003jit.1_Missense_Mutation_p.H65R	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	65	ANK 2.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)													0.259109	158.294669	171.273289	64	183	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34831827	34831827	13468	5	A	G	G	6	6	RAI14	G	4	4
RAD1	5810	broad.mit.edu	36	5	34945175	34945175	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:34945175G>A	uc003jix.1	-	c.610C>T	c.(610-612)CCC>TCC	p.P204S	RAD1_uc003jiw.1_Missense_Mutation_p.P95S|RAD1_uc003jiy.1_Missense_Mutation_p.P204S	NM_002853	NP_596868	O60671	RAD1_HUMAN	RAD1 homolog	204					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding				0	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)												0.193237	81.368664	99.562706	40	167	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Missense_Mutation	SNP	34945175	34945175	13437	5	G	A	A	41	41	RAD1	A	2	2
DNAJC21	134218	broad.mit.edu	36	5	34969700	34969700	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:34969700G>T	uc003jjb.1	+	c.121G>T	c.(121-123)GAA>TAA	p.E41*	DNAJC21_uc003jjc.1_Nonsense_Mutation_p.E41*|DNAJC21_uc010iuu.1_5'Flank	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 1	41	J.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)	1	all_lung(31;7.08e-05)													0.358974	71.17026	72.539508	28	50	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Nonsense_Mutation	SNP	34969700	34969700	4823	5	G	T	T	33	33	DNAJC21	T	5	3
SPEF2	79925	broad.mit.edu	36	5	35680294	35680294	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:35680294C>T	uc003jjo.1	+	c.495C>T	c.(493-495)CAC>CAT	p.H165H	SPEF2_uc003jjn.1_Silent_p.H165H|SPEF2_uc003jjq.2_Silent_p.H165H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	165					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)													0.162791	21.600073	30.895304	14	72	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Silent	SNP	35680294	35680294	15547	5	C	T	T	19	19	SPEF2	T	1	1
SPEF2	79925	broad.mit.edu	36	5	35685246	35685246	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:35685246C>T	uc003jjo.1	+	c.753C>T	c.(751-753)TTC>TTT	p.F251F	SPEF2_uc003jjn.1_Silent_p.F251F|SPEF2_uc003jjq.2_Silent_p.F251F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	251	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)													0.220408	111.818043	129.460629	54	191	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Silent	SNP	35685246	35685246	15547	5	C	T	T	31	31	SPEF2	T	1	1
SPEF2	79925	broad.mit.edu	36	5	35728515	35728515	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:35728515C>A	uc003jjo.1	+	c.1831C>A	c.(1831-1833)CTA>ATA	p.L611I	SPEF2_uc003jjp.1_Missense_Mutation_p.L102I|SPEF2_uc003jjq.2_Missense_Mutation_p.L611I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	611					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)													0.447236	237.279609	237.771029	89	110	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	35728515	35728515	15547	5	C	A	A	32	32	SPEF2	A	3	3
SPEF2	79925	broad.mit.edu	36	5	35736376	35736376	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:35736376C>T	uc003jjo.1	+	c.2163C>T	c.(2161-2163)GAC>GAT	p.D721D	SPEF2_uc003jjp.1_Silent_p.D207D|SPEF2_uc003jjq.2_Silent_p.D716D	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	721					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)													0.195122	67.498426	81.719508	32	132	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Silent	SNP	35736376	35736376	15547	5	C	T	T	20	20	SPEF2	T	2	2
IL7R	3575	broad.mit.edu	36	5	35912240	35912240	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:35912240C>T	uc003jjs.1	+	c.1275C>T	c.(1273-1275)ATC>ATT	p.I425I		NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	425	Cytoplasmic (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)	4	all_lung(31;0.00015)													0.2	56.714136	68.439909	28	112	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		Silent	SNP	35912240	35912240	8006	5	C	T	T	30	30	IL7R	T	2	2
UGT3A1	133688	broad.mit.edu	36	5	35993167	35993167	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:35993167C>T	uc003jjv.1	-	c.955G>A	c.(955-957)GCC>ACC	p.A319T	UGT3A1_uc003jjx.1_Missense_Mutation_p.A189T|UGT3A1_uc003jjw.1_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide	319	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)													0.364407	104.574172	106.489778	43	75	CC		KEEP	---	---	---	---	capture	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	35993167	35993167	17521	5	C	T	T	25	25	UGT3A1	T	2	2
UGT3A2	167127	broad.mit.edu	36	5	36073697	36073697	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36073697C>A	uc003jjz.1	-	c.1254G>T	c.(1252-1254)GAG>GAT	p.E418D	UGT3A1_uc003jjx.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide	418	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)													0.201389	164.039967	199.88574	87	345	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	36073697	36073697	17522	5	C	A	A	32	32	UGT3A2	A	3	3
UGT3A2	167127	broad.mit.edu	36	5	36084781	36084781	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36084781G>T	uc003jjz.1	-	c.810C>A	c.(808-810)GGC>GGA	p.G270G	UGT3A1_uc003jjx.1_Silent_p.G140G	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide	270	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)													0.184397	49.059213	62.241394	26	115	GG		KEEP	---	---	---	---	capture	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Silent	SNP	36084781	36084781	17522	5	G	T	T	34	34	UGT3A2	T	3	3
UGT3A2	167127	broad.mit.edu	36	5	36087844	36087844	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36087844C>A	uc003jjz.1	-	c.197_splice	c.e3-1	p.D66_splice	UGT3A1_uc003jjx.1_5'Flank	NM_174914	NP_777574			UDP glycosyltransferase 3 family, polypeptide							integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)													0.188034	39.376799	50.043294	22	95	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Splice_Site_SNP	SNP	36087844	36087844	17522	5	C	A	A	32	32	UGT3A2	A	5	3
LMBRD2	92255	broad.mit.edu	36	5	36179133	36179133	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36179133C>T	uc003jkb.1	-	c.76G>A	c.(76-78)GAC>AAC	p.D26N		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	26	Cytoplasmic (Potential).					integral to membrane					0	all_lung(31;0.000146)									2				0.240741	64.992972	71.618819	26	82	CC		KEEP	---	---	---	---	capture	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	36179133	36179133	9172	5	C	T	T	32	32	LMBRD2	T	2	2
C5orf33	133686	broad.mit.edu	36	5	36231025	36231025	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36231025C>T	uc003jkf.2	-	c.1307G>A	c.(1306-1308)CGA>CAA	p.R436Q	C5orf33_uc003jke.2_Non-coding_Transcript|C5orf33_uc010iux.1_Missense_Mutation_p.R241Q|C5orf33_uc003jkg.2_Missense_Mutation_p.R273Q	NM_001085411	NP_001078880	Q4G0N4	CE033_HUMAN	hypothetical protein LOC133686 isoform 1	436							NAD+ kinase activity			ovary(2)	2	all_lung(31;5.63e-05)													0.292857	101.713012	107.095573	41	99	CC		KEEP	---	---	---	---	capture	Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	36231025	36231025	2390	5	C	T	T	31	31	C5orf33	T	1	1
RANBP3L	202151	broad.mit.edu	36	5	36300897	36300897	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36300897C>T	uc003jkh.1	-	c.401G>A	c.(400-402)CGA>CAA	p.R134Q		NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	134					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)													0.223404	135.979228	155.816565	63	219	CC		KEEP	---	---	---	---	capture	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		Missense_Mutation	SNP	36300897	36300897	13490	5	C	T	T	31	31	RANBP3L	T	1	1
NIPBL	25836	broad.mit.edu	36	5	37011790	37011790	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37011790G>T	uc003jkl.2	+	c.1024G>T	c.(1024-1026)GCG>TCG	p.A342S	NIPBL_uc003jkk.2_Missense_Mutation_p.A342S|NIPBL_uc003jkm.1_Missense_Mutation_p.A221S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	342					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 gene-specific 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|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)									934				0.198675	57.954131	70.725479	30	121	GG		KEEP	---	---	---	---	capture	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		Missense_Mutation	SNP	37011790	37011790	10829	5	G	T	T	34	34	NIPBL	T	3	3
NIPBL	25836	broad.mit.edu	36	5	37012028	37012028	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37012028C>T	uc003jkl.2	+	c.1262C>T	c.(1261-1263)TCG>TTG	p.S421L	NIPBL_uc003jkk.2_Missense_Mutation_p.S421L|NIPBL_uc003jkm.1_Missense_Mutation_p.S300L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	421	Gln-rich.				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 gene-specific 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|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)									934				0.252688	105.628931	115.968048	47	139	CC		KEEP	---	---	---	---	capture	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		Missense_Mutation	SNP	37012028	37012028	10829	5	C	T	T	31	31	NIPBL	T	1	1
NIPBL	25836	broad.mit.edu	36	5	37021544	37021544	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37021544G>A	uc003jkl.2	+	c.2505G>A	c.(2503-2505)GGG>GGA	p.G835G	NIPBL_uc003jkk.2_Silent_p.G835G|NIPBL_uc003jkm.1_Silent_p.G714G	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	835					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 gene-specific 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|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)									934				0.169492	39.522262	51.725277	20	98	GG		KEEP	---	---	---	---	capture	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		Silent	SNP	37021544	37021544	10829	5	G	A	A	43	43	NIPBL	A	2	2
NIPBL	25836	broad.mit.edu	36	5	37042343	37042343	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37042343A>G	uc003jkl.2	+	c.3983A>G	c.(3982-3984)TAC>TGC	p.Y1328C	NIPBL_uc003jkk.2_Missense_Mutation_p.Y1328C	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1328					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 gene-specific 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|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)									934				0.165414	47.977985	62.094633	22	111	AA		KEEP	---	---	---	---	capture	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		Missense_Mutation	SNP	37042343	37042343	10829	5	A	G	G	14	14	NIPBL	G	4	4
NIPBL	25836	broad.mit.edu	36	5	37056433	37056433	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37056433A>C	uc003jkl.2	+	c.5126A>C	c.(5125-5127)GAA>GCA	p.E1709A	NIPBL_uc003jkk.2_Missense_Mutation_p.E1709A	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1709					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 gene-specific 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|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)									934				0.392045	226.945403	228.738717	69	107	AA		KEEP	---	---	---	---	capture	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		Missense_Mutation	SNP	37056433	37056433	10829	5	A	C	C	9	9	NIPBL	C	4	4
NIPBL	25836	broad.mit.edu	36	5	37062181	37062181	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37062181G>A	uc003jkl.2	+	c.5803G>A	c.(5803-5805)GAT>AAT	p.D1935N	NIPBL_uc003jkk.2_Missense_Mutation_p.D1935N	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1935					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 gene-specific 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|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)									934				0.225806	30.016455	34.29944	14	48	GG		KEEP	---	---	---	---	capture	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		Missense_Mutation	SNP	37062181	37062181	10829	5	G	A	A	37	37	NIPBL	A	1	1
NIPBL	25836	broad.mit.edu	36	5	37094978	37094978	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37094978C>A	uc003jkl.2	+	c.7639C>A	c.(7639-7641)CTC>ATC	p.L2547I	NIPBL_uc003jkk.2_Missense_Mutation_p.L2547I|NIPBL_uc003jkn.1_Missense_Mutation_p.L240I	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2547					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 gene-specific 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|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)									934				0.218182	71.696344	83.789574	36	129	CC		KEEP	---	---	---	---	capture	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		Missense_Mutation	SNP	37094978	37094978	10829	5	C	A	A	32	32	NIPBL	A	3	3
C5orf42	65250	broad.mit.edu	36	5	37193643	37193643	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37193643C>T	uc003jkq.1	-	c.4537G>A	c.(4537-4539)GAT>AAT	p.D1513N	C5orf42_uc003jkp.1_Non-coding_Transcript	NM_023073	NP_075561	B7ZLV7	B7ZLV7_HUMAN	hypothetical protein LOC65250	1528										ovary(4)|breast(2)	6	all_lung(31;0.000616)													0.219178	65.009909	75.62882	32	114	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		Missense_Mutation	SNP	37193643	37193643	2399	5	C	T	T	29	29	C5orf42	T	2	2
NUP155	9631	broad.mit.edu	36	5	37339117	37339117	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37339117A>G	uc003jku.1	-	c.3317_splice	c.e28+1	p.S1106_splice	NUP155_uc003jkt.1_Splice_Site_SNP_p.S1047_splice|NUP155_uc010iuz.1_Splice_Site_SNP_p.S1042_splice	NM_153485	NP_004289			nucleoporin 155kDa isoform 1						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)													0.202797	76.011308	87.727807	29	114	AA		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Splice_Site_SNP	SNP	37339117	37339117	11161	5	A	G	G	14	14	NUP155	G	5	4
NUP155	9631	broad.mit.edu	36	5	37346515	37346515	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37346515T>C	uc003jku.1	-	c.2524A>G	c.(2524-2526)ATC>GTC	p.I842V	NUP155_uc003jkt.1_Missense_Mutation_p.I783V|NUP155_uc010iuz.1_Intron	NM_153485	NP_004289	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	842					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)													0.442748	382.190202	382.933671	116	146	TT		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	37346515	37346515	11161	5	T	C	C	49	49	NUP155	C	4	4
WDR70	55100	broad.mit.edu	36	5	37427973	37427973	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37427973C>T	uc003jkv.1	+	c.290C>T	c.(289-291)TCT>TTT	p.S97F	WDR70_uc010iva.1_Missense_Mutation_p.S97F	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	97	Ser-rich.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)													0.448276	398.805607	399.482615	130	160	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	37427973	37427973	17894	5	C	T	T	32	32	WDR70	T	2	2
EGFLAM	133584	broad.mit.edu	36	5	38442775	38442775	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:38442775C>A	uc003jlc.1	+	c.917C>A	c.(916-918)TCT>TAT	p.S306Y	EGFLAM_uc003jlb.1_Missense_Mutation_p.S306Y|EGFLAM_uc003jle.1_Missense_Mutation_p.S72Y|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	306						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|ovary(1)	4	all_lung(31;0.000385)					Colon(62;485 1295 3347 17454)								0.405904	286.367158	288.471685	110	161	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38442775	38442775	5155	5	C	A	A	32	32	EGFLAM	A	3	3
EGFLAM	133584	broad.mit.edu	36	5	38448402	38448402	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:38448402G>T	uc003jlc.1	+	c.1389G>T	c.(1387-1389)GAG>GAT	p.E463D	EGFLAM_uc003jlb.1_Missense_Mutation_p.E463D|EGFLAM_uc003jle.1_Missense_Mutation_p.E229D|EGFLAM_uc003jlf.1_5'UTR	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	463	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|ovary(1)	4	all_lung(31;0.000385)					Colon(62;485 1295 3347 17454)								0.212766	59.662735	70.423231	30	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38448402	38448402	5155	5	G	T	T	33	33	EGFLAM	T	3	3
LIFR	3977	broad.mit.edu	36	5	38541884	38541884	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:38541884C>T	uc010ive.1	-	c.1171G>A	c.(1171-1173)GAA>AAA	p.E391K	LIFR_uc003jli.2_Missense_Mutation_p.E391K	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	391	Fibronectin type-III 2.|Extracellular (Potential).				leukemia inhibitory factor signaling pathway|positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(2)|large_intestine(1)	3	all_lung(31;0.00021)					Melanoma(13;4 730 6426 9861 34751)				529				0.394089	219.049918	221.044689	80	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38541884	38541884	9106	5	C	T	T	31	31	LIFR	T	1	1
RICTOR	253260	broad.mit.edu	36	5	38978166	38978166	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:38978166G>A	uc003jlp.1	-	c.5124C>T	c.(5122-5124)TCC>TCT	p.S1708S	RICTOR_uc010ivf.1_Silent_p.S1385S|RICTOR_uc003jlo.1_Silent_p.S689S	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1708					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	all_lung(31;0.000396)									698				0.242574	124.970339	137.178286	49	153	GG		KEEP	---	---	---	---	capture			Silent	SNP	38978166	38978166	13833	5	G	A	A	35	35	RICTOR	A	2	2
RICTOR	253260	broad.mit.edu	36	5	38986405	38986405	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:38986405G>A	uc003jlp.1	-	c.3302C>T	c.(3301-3303)TCG>TTG	p.S1101L	RICTOR_uc010ivf.1_Missense_Mutation_p.S816L|RICTOR_uc003jlo.1_Missense_Mutation_p.S58L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1101					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	all_lung(31;0.000396)									698				0.427746	415.433551	417.010275	148	198	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38986405	38986405	13833	5	G	A	A	37	37	RICTOR	A	1	1
FYB	2533	broad.mit.edu	36	5	39170799	39170799	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:39170799G>T	uc003jlt.1	-	c.1590C>A	c.(1588-1590)AGC>AGA	p.S530R	FYB_uc003jls.1_Missense_Mutation_p.S530R|FYB_uc003jlu.1_Missense_Mutation_p.S530R	NM_001465	NP_001456	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 1	530	SH3.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)													0.244444	97.598207	108.320023	44	136	GG		KEEP	---	---	---	---	capture	Epithelial(62;0.235)		Missense_Mutation	SNP	39170799	39170799	6375	5	G	T	T	34	34	FYB	T	3	3
C9	735	broad.mit.edu	36	5	39351823	39351823	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:39351823G>T	uc003jlv.2	-	c.681C>A	c.(679-681)ATC>ATA	p.I227I		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	227	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)												0.455782	181.292689	181.544619	67	80	GG		KEEP	---	---	---	---	capture	Epithelial(62;0.158)		Silent	SNP	39351823	39351823	2556	5	G	T	T	45	45	C9	T	3	3
DAB2	1601	broad.mit.edu	36	5	39418712	39418712	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:39418712G>A	uc003jlx.2	-	c.1106C>T	c.(1105-1107)TCG>TTG	p.S369L	DAB2_uc003jlw.2_Missense_Mutation_p.S348L	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	369					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)													0.397351	160.676721	162.065201	60	91	GG		KEEP	---	---	---	---	capture	Epithelial(62;0.137)		Missense_Mutation	SNP	39418712	39418712	4384	5	G	A	A	37	37	DAB2	A	1	1
PTGER4	5734	broad.mit.edu	36	5	40717122	40717122	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40717122G>A	uc003jlz.1	+	c.270G>A	c.(268-270)CCG>CCA	p.P90P		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	90	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity				0												OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.467492	412.918594	413.210638	151	172	GG		KEEP	---	---	---	---	capture			Silent	SNP	40717122	40717122	13200	5	G	A	A	38	38	PTGER4	A	1	1
PTGER4	5734	broad.mit.edu	36	5	40728225	40728225	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40728225A>C	uc003jlz.1	+	c.1455A>C	c.(1453-1455)GAA>GAC	p.E485D		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	485	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity				0														0.168919	58.188259	73.540786	25	123	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40728225	40728225	13200	5	A	C	C	1	1	PTGER4	C	4	4
CARD6	84674	broad.mit.edu	36	5	40877433	40877433	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40877433A>G	uc003jmg.1	+	c.192A>G	c.(190-192)GTA>GTG	p.V64V		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	64	CARD.				apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5														0.205714	94.2204	108.258848	36	139	AA		KEEP	---	---	---	---	capture			Silent	SNP	40877433	40877433	2769	5	A	G	G	14	14	CARD6	G	4	4
CARD6	84674	broad.mit.edu	36	5	40877500	40877500	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40877500G>A	uc003jmg.1	+	c.259G>A	c.(259-261)GCT>ACT	p.A87T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	87	CARD.				apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5														0.460937	170.004626	170.17527	59	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40877500	40877500	2769	5	G	A	A	34	34	CARD6	A	2	2
CARD6	84674	broad.mit.edu	36	5	40879525	40879525	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40879525A>C	uc003jmg.1	+	c.798A>C	c.(796-798)GAA>GAC	p.E266D		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	266	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5														0.438776	146.818262	147.137241	43	55	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40879525	40879525	2769	5	A	C	C	1	1	CARD6	C	4	4
CARD6	84674	broad.mit.edu	36	5	40889358	40889358	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40889358G>T	uc003jmg.1	+	c.2167G>T	c.(2167-2169)GTA>TTA	p.V723L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	723					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5														0.207297	265.906193	313.810259	125	478	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40889358	40889358	2769	5	G	T	T	36	36	CARD6	T	3	3
CARD6	84674	broad.mit.edu	36	5	40889725	40889725	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40889725T>C	uc003jmg.1	+	c.2534T>C	c.(2533-2535)GTA>GCA	p.V845A		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	845					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5														0.239923	339.87248	371.997884	125	396	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40889725	40889725	2769	5	T	C	C	57	57	CARD6	C	4	4
C7	730	broad.mit.edu	36	5	40981085	40981085	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40981085A>C	uc003jmh.1	+	c.596A>C	c.(595-597)GAA>GCA	p.E199A		NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	199	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.444444	52.79828	52.894587	16	20	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40981085	40981085	2482	5	A	C	C	9	9	C7	C	4	4
C7	730	broad.mit.edu	36	5	40981153	40981153	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40981153C>T	uc003jmh.1	+	c.664C>T	c.(664-666)CGC>TGC	p.R222C		NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	222	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.175	22.494995	30.474439	14	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40981153	40981153	2482	5	C	T	T	27	27	C7	T	1	1
C7	730	broad.mit.edu	36	5	41012631	41012631	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41012631G>A	uc003jmh.1	+	c.2097G>A	c.(2095-2097)GTG>GTA	p.V699V		NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	699	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.419355	33.865637	34.042438	13	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	41012631	41012631	2482	5	G	A	A	46	46	C7	A	2	2
HEATR7B2	133558	broad.mit.edu	36	5	41033915	41033915	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41033915A>G	uc003jmj.2	-	c.4754T>C	c.(4753-4755)CTG>CCG	p.L1585P	HEATR7B2_uc003jmi.2_Missense_Mutation_p.L1140P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1585							binding			ovary(6)|central_nervous_system(2)	8														0.198324	142.024193	172.364913	71	287	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41033915	41033915	7318	5	A	G	G	7	7	HEATR7B2	G	4	4
HEATR7B2	133558	broad.mit.edu	36	5	41054622	41054622	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41054622G>A	uc003jmj.2	-	c.2601C>T	c.(2599-2601)GAC>GAT	p.D867D	HEATR7B2_uc003jmi.2_Silent_p.D422D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	867							binding			ovary(6)|central_nervous_system(2)	8														0.479167	194.05419	194.109071	69	75	GG		KEEP	---	---	---	---	capture			Silent	SNP	41054622	41054622	7318	5	G	A	A	40	40	HEATR7B2	A	1	1
HEATR7B2	133558	broad.mit.edu	36	5	41094055	41094055	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41094055C>T	uc003jmj.2	-	c.623G>A	c.(622-624)AGC>AAC	p.S208N	HEATR7B2_uc003jmi.2_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	208							binding			ovary(6)|central_nervous_system(2)	8														0.471264	127.866195	127.928938	41	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41094055	41094055	7318	5	C	T	T	28	28	HEATR7B2	T	2	2
HEATR7B2	133558	broad.mit.edu	36	5	41101241	41101241	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41101241G>A	uc003jmj.2	-	c.310C>T	c.(310-312)CTA>TTA	p.L104L		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	104							binding			ovary(6)|central_nervous_system(2)	8														0.174603	23.683745	29.978819	11	52	GG		KEEP	---	---	---	---	capture			Silent	SNP	41101241	41101241	7318	5	G	A	A	34	34	HEATR7B2	A	2	2
PLCXD3	345557	broad.mit.edu	36	5	41349583	41349583	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41349583C>A	uc003jmm.1	-	c.859G>T	c.(859-861)GAG>TAG	p.E287*		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	287					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	4														0.203125	49.268984	59.754676	26	102	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	41349583	41349583	12469	5	C	A	A	32	32	PLCXD3	A	5	3
GHR	2690	broad.mit.edu	36	5	42747132	42747132	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:42747132C>T	uc003jmt.1	+	c.685C>T	c.(685-687)CGT>TGT	p.R229C		NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	229	Extracellular (Potential).|Fibronectin type-III.		R -> G (in LARS).		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|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(2)|kidney(1)	3		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)					274				0.225071	165.130514	189.518558	79	272	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42747132	42747132	6639	5	C	T	T	27	27	GHR	T	1	1
GHR	2690	broad.mit.edu	36	5	42754818	42754818	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:42754818C>T	uc003jmt.1	+	c.1452C>T	c.(1450-1452)ATC>ATT	p.I484I		NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	484	Cytoplasmic (Potential).				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|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(2)|kidney(1)	3		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)				p.I484I(HS695T-Tumor)	274				0.363636	139.86351	142.201717	52	91	CC		KEEP	---	---	---	---	capture			Silent	SNP	42754818	42754818	6639	5	C	T	T	31	31	GHR	T	1	1
SEPP1	6414	broad.mit.edu	36	5	42836892	42836892	+	Missense_Mutation	SNP	C	T	T	rs28919923	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:42836892C>T	uc010ivi.1	-	c.923G>A	c.(922-924)CGA>CAA	p.R308Q	SEPP1_uc003jna.1_Non-coding_Transcript|CCDC152_uc003jmx.2_3'UTR|SEPP1_uc010ivh.1_Missense_Mutation_p.R278Q|SEPP1_uc003jmz.1_Missense_Mutation_p.R278Q|SEPP1_uc003jmy.1_Missense_Mutation_p.R278Q	NM_001093726		P49908	SEPP1_HUMAN	selenoprotein P isoform 2	278			R -> Q.		response to oxidative stress	extracellular region	selenium binding				0														0.22093	81.461366	93.791779	38	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42836892	42836892	14543	5	C	T	T	31	31	SEPP1	T	1	1
MGC42105	167359	broad.mit.edu	36	5	43316129	43316129	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:43316129C>T	uc003jno.1	+	c.852C>T	c.(850-852)CTC>CTT	p.L284L		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	284	Protein kinase.				protein phosphorylation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9										94				0.261745	87.454842	95.112881	39	110	CC		KEEP	---	---	---	---	capture			Silent	SNP	43316129	43316129	9942	5	C	T	T	31	31	MGC42105	T	1	1
MGC42105	167359	broad.mit.edu	36	5	43316415	43316415	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:43316415C>T	uc003jno.1	+	c.1138C>T	c.(1138-1140)CGC>TGC	p.R380C		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	380					protein phosphorylation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9										94				0.398907	197.730524	199.367864	73	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43316415	43316415	9942	5	C	T	T	31	31	MGC42105	T	1	1
HMGCS1	3157	broad.mit.edu	36	5	43334589	43334589	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:43334589C>A	uc003jnr.2	-	c.236G>T	c.(235-237)AGA>ATA	p.R79I	HMGCS1_uc003jnq.2_Missense_Mutation_p.R79I	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	79					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0														0.199413	123.886044	152.579136	68	273	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43334589	43334589	7523	5	C	A	A	32	32	HMGCS1	A	3	3
PAIP1	10605	broad.mit.edu	36	5	43570790	43570790	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:43570790C>T	uc003job.1	-	c.1119G>A	c.(1117-1119)CGG>CGA	p.R373R	PAIP1_uc003joa.1_Silent_p.R294R|PAIP1_uc010ivo.1_Non-coding_Transcript|PAIP1_uc010ivp.1_Silent_p.R294R|PAIP1_uc003joc.1_Silent_p.R261R	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	373	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)													0.156028	33.270888	49.194692	22	119	CC		KEEP	---	---	---	---	capture			Silent	SNP	43570790	43570790	11812	5	C	T	T	18	18	PAIP1	T	2	2
FGF10	2255	broad.mit.edu	36	5	44424366	44424366	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:44424366G>T	uc003jog.1	-	c.176C>A	c.(175-177)TCT>TAT	p.S59Y		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	59	Poly-Ser.				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|transcription activator activity|type 2 fibroblast growth factor receptor binding				0	Lung NSC(6;1.12e-06)													0.358779	116.372173	118.679357	47	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44424366	44424366	6076	5	G	T	T	33	33	FGF10	T	3	3
AHRR	57491	broad.mit.edu	36	5	487202	487202	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:487202C>A	uc003jav.1	+	c.1413C>A	c.(1411-1413)ATC>ATA	p.I471I	AHRR_uc003jaw.1_Silent_p.I449I|AHRR_uc010isy.1_Silent_p.I299I|AHRR_uc010isz.1_Silent_p.I449I|AHRR_uc003jax.1_Silent_p.I212I|AHRR_uc003jay.1_Silent_p.I309I|AHRR_uc003jaz.1_Silent_p.I70I	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			breast(2)	2														0.152778	13.372013	21.691354	11	61	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		Silent	SNP	487202	487202	420	5	C	A	A	32	32	AHRR	A	3	3
EMB	133418	broad.mit.edu	36	5	49734795	49734795	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:49734795T>C	uc003jom.1	-	c.851A>G	c.(850-852)TAC>TGC	p.Y284C	EMB_uc010ivq.1_Missense_Mutation_p.Y78C|EMB_uc003jol.1_Missense_Mutation_p.Y215C|EMB_uc010ivr.1_Missense_Mutation_p.Y230C	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin	284	Cytoplasmic (Potential).					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)												0.2	53.091892	62.299124	22	88	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49734795	49734795	5277	5	T	C	C	57	57	EMB	C	4	4
EMB	133418	broad.mit.edu	36	5	49734886	49734886	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:49734886C>T	uc003jom.1	-	c.760G>A	c.(760-762)GTG>ATG	p.V254M	EMB_uc010ivq.1_Missense_Mutation_p.V48M|EMB_uc003jol.1_Missense_Mutation_p.V185M|EMB_uc010ivr.1_Missense_Mutation_p.V200M	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin	254	Extracellular (Potential).					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)												0.194286	67.040204	82.308448	34	141	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49734886	49734886	5277	5	C	T	T	18	18	EMB	T	2	2
EXOC3	11336	broad.mit.edu	36	5	500731	500731	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:500731G>T	uc003jba.1	+	c.228G>T	c.(226-228)CAG>CAT	p.Q76H		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	87					exocytosis|protein transport						0		Ovarian(839;0.0563)												0.277778	10.765235	11.566614	5	13	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		Missense_Mutation	SNP	500731	500731	5496	5	G	T	T	34	34	EXOC3	T	3	3
PARP8	79668	broad.mit.edu	36	5	50110187	50110187	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:50110187G>A	uc003jon.2	+	c.616G>A	c.(616-618)GAA>AAA	p.E206K	PARP8_uc003joo.1_Missense_Mutation_p.E206K|PARP8_uc003jop.1_Missense_Mutation_p.E206K	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	206						intracellular	NAD+ ADP-ribosyltransferase activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;0.0305)|Breast(144;0.222)												0.168224	31.776424	42.940184	18	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50110187	50110187	11882	5	G	A	A	33	33	PARP8	A	2	2
PARP8	79668	broad.mit.edu	36	5	50125807	50125807	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:50125807G>T	uc003jon.2	+	c.747G>T	c.(745-747)CAG>CAT	p.Q249H	PARP8_uc003joo.1_Missense_Mutation_p.Q249H|PARP8_uc003jop.1_Missense_Mutation_p.Q249H	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	249						intracellular	NAD+ ADP-ribosyltransferase activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;0.0305)|Breast(144;0.222)												0.183099	46.654069	60.053682	26	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50125807	50125807	11882	5	G	T	T	33	33	PARP8	T	3	3
PARP8	79668	broad.mit.edu	36	5	50153941	50153941	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:50153941C>T	uc003jon.2	+	c.1810C>T	c.(1810-1812)CGA>TGA	p.R604*	PARP8_uc003joo.1_Nonsense_Mutation_p.R604*|PARP8_uc003jop.1_Nonsense_Mutation_p.R562*	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	604						intracellular	NAD+ ADP-ribosyltransferase activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;0.0305)|Breast(144;0.222)												0.462406	354.084884	354.413543	123	143	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	50153941	50153941	11882	5	C	T	T	31	31	PARP8	T	5	1
PARP8	79668	broad.mit.edu	36	5	50159619	50159619	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:50159619A>C	uc003jon.2	+	c.2062A>C	c.(2062-2064)AAA>CAA	p.K688Q	PARP8_uc003joo.1_Missense_Mutation_p.K688Q|PARP8_uc003jop.1_Missense_Mutation_p.K646Q	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	688	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;0.0305)|Breast(144;0.222)												0.455696	372.490476	372.893481	108	129	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50159619	50159619	11882	5	A	C	C	1	1	PARP8	C	4	4
PARP8	79668	broad.mit.edu	36	5	50164437	50164437	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:50164437A>G	uc003jon.2	+	c.2299A>G	c.(2299-2301)ACA>GCA	p.T767A	PARP8_uc003joo.1_Missense_Mutation_p.T767A|PARP8_uc003jop.1_Missense_Mutation_p.T725A	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	767	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;0.0305)|Breast(144;0.222)												0.425373	189.168581	189.815988	57	77	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50164437	50164437	11882	5	A	G	G	14	14	PARP8	G	4	4
ADAMTS16	170690	broad.mit.edu	36	5	5199320	5199320	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:5199320C>T	uc003jdl.1	+	c.253C>T	c.(253-255)CGG>TGG	p.R85W	ADAMTS16_uc003jdj.1_Missense_Mutation_p.R85W|ADAMTS16_uc003jdk.1_Missense_Mutation_p.R85W	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	85					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.423913	202.908071	203.838414	78	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5199320	5199320	262	5	C	T	T	27	27	ADAMTS16	T	1	1
ITGA2	3673	broad.mit.edu	36	5	52376663	52376663	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:52376663G>A	uc003joy.1	+	c.371G>A	c.(370-372)GGA>GAA	p.G124E		NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	124	Extracellular (Potential).|FG-GAP 2.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)												0.192308	49.20601	60.697183	25	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52376663	52376663	8179	5	G	A	A	41	41	ITGA2	A	2	2
ITGA2	3673	broad.mit.edu	36	5	52406700	52406700	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:52406700C>T	uc003joy.1	+	c.2717C>T	c.(2716-2718)GCG>GTG	p.A906V		NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	906	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)												0.166667	37.538525	52.084926	23	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52406700	52406700	8179	5	C	T	T	27	27	ITGA2	T	1	1
ADAMTS16	170690	broad.mit.edu	36	5	5240904	5240904	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:5240904C>A	uc003jdl.1	+	c.1030C>A	c.(1030-1032)CTT>ATT	p.L344I	ADAMTS16_uc003jdj.1_Missense_Mutation_p.L344I|ADAMTS16_uc003jdk.1_Missense_Mutation_p.L344I	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	344	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.253247	87.839507	96.362031	39	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5240904	5240904	262	5	C	A	A	32	32	ADAMTS16	A	3	3
MOCS2	4338	broad.mit.edu	36	5	52433027	52433027	+	Missense_Mutation	SNP	G	A	A	rs2233217	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:52433027G>A	uc003joz.1	-	c.296C>T	c.(295-297)GCG>GTG	p.A99V	MOCS2_uc003jpa.1_Missense_Mutation_p.A99V	NM_004531	NP_004522	O96033	MOC2A_HUMAN	molybdopterin synthase large subunit MOCS2B	Error:Variant_position_missing_in_O96033_after_alignment					Mo-molybdopterin cofactor biosynthetic process|sulfur compound metabolic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding				0		Lung NSC(810;3.08e-05)|Breast(144;0.0848)												0.228893	262.860801	298.80665	122	411	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52433027	52433027	10082	5	G	A	A	38	38	MOCS2	A	1	1
ADAMTS16	170690	broad.mit.edu	36	5	5253289	5253289	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:5253289C>T	uc003jdl.1	+	c.1358C>T	c.(1357-1359)TCC>TTC	p.S453F	ADAMTS16_uc003jdj.1_Missense_Mutation_p.S453F|ADAMTS16_uc003jdk.1_Missense_Mutation_p.S453F	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	453	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.44086	113.255329	113.539713	41	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5253289	5253289	262	5	C	T	T	30	30	ADAMTS16	T	2	2
FST	10468	broad.mit.edu	36	5	52814613	52814613	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:52814613T>C	uc003jpd.1	+	c.232T>C	c.(232-234)TGG>CGG	p.W78R	FST_uc003jpc.1_Missense_Mutation_p.W78R	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	78	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)										OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.441667	159.345847	159.702794	53	67	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52814613	52814613	6327	5	T	C	C	59	59	FST	C	4	4
FST	10468	broad.mit.edu	36	5	52815133	52815133	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:52815133G>A	uc003jpd.1	+	c.320G>A	c.(319-321)CGA>CAA	p.R107Q	FST_uc003jpc.1_Missense_Mutation_p.R107Q	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	107	Follistatin-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)												0.177966	37.499152	49.02955	21	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52815133	52815133	6327	5	G	A	A	37	37	FST	A	1	1
SLC9A3	6550	broad.mit.edu	36	5	534703	534703	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:534703G>A	uc003jbe.1	-	c.1494C>T	c.(1492-1494)ATC>ATT	p.I498I		NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	498	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0														0.189744	138.510677	173.644042	74	316	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		Silent	SNP	534703	534703	15210	5	G	A	A	37	37	SLC9A3	A	1	1
SLC9A3	6550	broad.mit.edu	36	5	536492	536492	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:536492G>A	uc003jbe.1	-	c.1038C>T	c.(1036-1038)GCC>GCT	p.A346A		NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	346	Helical; Name=J/M8; (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0														0.238095	11.664557	12.980429	5	16	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		Silent	SNP	536492	536492	15210	5	G	A	A	39	39	SLC9A3	A	1	1
SNX18	112574	broad.mit.edu	36	5	53851107	53851107	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:53851107C>T	uc003jpj.2	+	c.1568C>T	c.(1567-1569)GCG>GTG	p.A523V	SNX18_uc003jpi.2_Missense_Mutation_p.A523V	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	523	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)												0.179592	75.58385	99.228084	44	201	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53851107	53851107	15389	5	C	T	T	27	27	SNX18	T	1	1
SLC9A3	6550	broad.mit.edu	36	5	541445	541445	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:541445C>T	uc003jbe.1	-	c.661G>A	c.(661-663)GAC>AAC	p.D221N		NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	221	Helical; Name=G/M5B; (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0														0.239316	58.542051	65.803757	28	89	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		Missense_Mutation	SNP	541445	541445	15210	5	C	T	T	31	31	SLC9A3	T	1	1
ESM1	11082	broad.mit.edu	36	5	54317002	54317002	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:54317002C>A	uc003jpk.1	-	c.101G>T	c.(100-102)AGC>ATC	p.S34I	ESM1_uc010ivt.1_Missense_Mutation_p.S34I	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1 isoform a	34	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)												0.233333	75.53924	85.312248	35	115	CC		KEEP	---	---	---	---	capture	Lung(15;0.23)		Missense_Mutation	SNP	54317002	54317002	5445	5	C	A	A	28	28	ESM1	A	3	3
GZMK	3003	broad.mit.edu	36	5	54363189	54363189	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:54363189G>T	uc003jpl.1	+	c.604G>T	c.(604-606)GAT>TAT	p.D202Y		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	202	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)												0.132184	25.499074	48.380768	23	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54363189	54363189	7198	5	G	T	T	33	33	GZMK	T	3	3
DHX29	54505	broad.mit.edu	36	5	54608754	54608754	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:54608754T>G	uc003jpx.1	-	c.2223A>C	c.(2221-2223)AAA>AAC	p.K741N	DHX29_uc010ivw.1_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	741	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)	3		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)												0.467033	287.069128	287.240263	85	97	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54608754	54608754	4682	5	T	G	G	52	52	DHX29	G	4	4
SKIV2L2	23517	broad.mit.edu	36	5	54747710	54747710	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:54747710C>A	uc003jpy.2	+	c.2964C>A	c.(2962-2964)GTC>GTA	p.V988V		NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	988					maturation of 5.8S rRNA|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)	1		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				Melanoma(2;92 134 23744 29976 33782)								0.256098	47.229645	51.658805	21	61	CC		KEEP	---	---	---	---	capture			Silent	SNP	54747710	54747710	14855	5	C	A	A	32	32	SKIV2L2	A	3	3
SKIV2L2	23517	broad.mit.edu	36	5	54754474	54754474	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:54754474C>T	uc003jpy.2	+	c.2983C>T	c.(2983-2985)CGT>TGT	p.R995C		NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	995					maturation of 5.8S rRNA|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)	1		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				Melanoma(2;92 134 23744 29976 33782)								0.426471	81.760519	82.081873	29	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54754474	54754474	14855	5	C	T	T	31	31	SKIV2L2	T	1	1
KIAA0947	23379	broad.mit.edu	36	5	5493028	5493028	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:5493028T>C	uc003jdm.2	+	c.197_splice	c.e4+2	p.R66_splice		NM_015325	NP_056140			hypothetical protein LOC23379											ovary(1)|central_nervous_system(1)	2														0.470588	24.298946	24.311694	8	9	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	5493028	5493028	8509	5	T	C	C	59	59	KIAA0947	C	5	4
SLC38A9	153129	broad.mit.edu	36	5	54984203	54984203	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:54984203G>T	uc003jqf.1	-	c.863C>A	c.(862-864)TCC>TAC	p.S288Y	SLC38A9_uc003jqd.1_Missense_Mutation_p.S225Y|SLC38A9_uc010ivx.1_Missense_Mutation_p.S261Y|SLC38A9_uc003jqe.1_Non-coding_Transcript|SLC38A9_uc010ivy.1_Missense_Mutation_p.S159Y	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	288					amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)												0.16129	21.660617	31.821422	15	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54984203	54984203	15108	5	G	T	T	41	41	SLC38A9	T	3	3
KIAA0947	23379	broad.mit.edu	36	5	5500846	5500846	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:5500846G>A	uc003jdm.2	+	c.520G>A	c.(520-522)GAA>AAA	p.E174K		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	174	Potential.									ovary(1)|central_nervous_system(1)	2														0.2	10.260531	12.353632	5	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5500846	5500846	8509	5	G	A	A	37	37	KIAA0947	A	1	1
DDX4	54514	broad.mit.edu	36	5	55146727	55146727	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:55146727G>T	uc003jqg.2	+	c.1957G>T	c.(1957-1959)GCA>TCA	p.A653S	DDX4_uc010ivz.1_Missense_Mutation_p.A633S|DDX4_uc003jqh.2_Missense_Mutation_p.A619S|DDX4_uc003jqi.1_Missense_Mutation_p.A653S|DDX4_uc003jqj.1_Missense_Mutation_p.A504S	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	653	Helicase C-terminal.				multicellular organismal development|sperm motility	pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)												0.215805	137.790174	162.382616	71	258	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55146727	55146727	4531	5	G	T	T	34	34	DDX4	T	3	3
KIAA0947	23379	broad.mit.edu	36	5	5515142	5515142	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:5515142T>C	uc003jdm.2	+	c.2695T>C	c.(2695-2697)TCA>CCA	p.S899P		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	899										ovary(1)|central_nervous_system(1)	2														0.216216	105.104596	118.84706	40	145	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5515142	5515142	8509	5	T	C	C	58	58	KIAA0947	C	4	4
KIAA0947	23379	broad.mit.edu	36	5	5516851	5516851	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:5516851G>A	uc003jdm.2	+	c.4404G>A	c.(4402-4404)GAG>GAA	p.E1468E		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1468										ovary(1)|central_nervous_system(1)	2														0.234201	150.680259	168.075655	63	206	GG		KEEP	---	---	---	---	capture			Silent	SNP	5516851	5516851	8509	5	G	A	A	33	33	KIAA0947	A	2	2
IL31RA	133396	broad.mit.edu	36	5	55221601	55221601	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:55221601A>G	uc003jql.1	+	c.653A>G	c.(652-654)TAC>TGC	p.Y218C	IL31RA_uc003jqk.2_Missense_Mutation_p.Y218C|IL31RA_uc003jqm.2_Missense_Mutation_p.Y186C|IL31RA_uc003jqn.2_Missense_Mutation_p.Y218C|IL31RA_uc010iwa.1_Missense_Mutation_p.Y186C|IL31RA_uc003jqo.1_Missense_Mutation_p.Y76C	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	186	Extracellular (Potential).|Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)												0.229508	78.252971	86.42462	28	94	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55221601	55221601	7992	5	A	G	G	14	14	IL31RA	G	4	4
IL31RA	133396	broad.mit.edu	36	5	55239965	55239965	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:55239965C>A	uc003jql.1	+	c.1470C>A	c.(1468-1470)ATC>ATA	p.I490I	IL31RA_uc003jqk.2_Silent_p.I490I|IL31RA_uc003jqm.2_Silent_p.I458I|IL31RA_uc003jqn.2_Silent_p.I490I|IL31RA_uc010iwa.1_Silent_p.I458I|IL31RA_uc003jqo.1_Silent_p.I348I	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	458	Extracellular (Potential).|Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)												0.192708	68.058829	84.996253	37	155	CC		KEEP	---	---	---	---	capture			Silent	SNP	55239965	55239965	7992	5	C	A	A	32	32	IL31RA	A	3	3
KIAA0947	23379	broad.mit.edu	36	5	5529116	5529116	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:5529116G>A	uc003jdm.2	+	c.6444G>A	c.(6442-6444)TGG>TGA	p.W2148*		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2148										ovary(1)|central_nervous_system(1)	2														0.25	47.857587	52.405893	20	60	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	5529116	5529116	8509	5	G	A	A	41	41	KIAA0947	A	5	2
ANKRD55	79722	broad.mit.edu	36	5	55442740	55442740	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:55442740A>G	uc003jqu.1	-	c.1592T>C	c.(1591-1593)GTG>GCG	p.V531A	ANKRD55_uc003jqt.1_Missense_Mutation_p.V243A	NM_024669	NP_001035024	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	530											0		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)												0.202586	199.71367	237.830321	94	370	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55442740	55442740	689	5	A	G	G	6	6	ANKRD55	G	4	4
ANKRD55	79722	broad.mit.edu	36	5	55458551	55458551	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:55458551G>C	uc003jqu.1	-	c.752C>G	c.(751-753)GCA>GGA	p.A251G		NM_024669	NP_001035024	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	250	ANK 7.										0		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)												0.226708	195.225835	217.292045	73	249	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55458551	55458551	689	5	G	C	C	46	46	ANKRD55	C	3	3
MAP3K1	4214	broad.mit.edu	36	5	56212757	56212757	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56212757G>A	uc003jqw.2	+	c.2270G>A	c.(2269-2271)CGC>CAC	p.R757H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	757					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)								201				0.401408	152.394343	153.584952	57	85	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	Missense_Mutation	SNP	56212757	56212757	9626	5	G	A	A	38	38	MAP3K1	A	1	1
MIER3	166968	broad.mit.edu	36	5	56255300	56255300	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56255300G>A	uc003jrc.1	-	c.1185C>T	c.(1183-1185)AAC>AAT	p.N395N	MIER3_uc003jqz.1_Silent_p.N327N|MIER3_uc003jra.1_Silent_p.N389N|MIER3_uc003jrb.1_Silent_p.N214N|MIER3_uc003jrd.1_Silent_p.N390N	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)												0.166008	77.981423	104.761301	42	211	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	Silent	SNP	56255300	56255300	9972	5	G	A	A	36	36	MIER3	A	2	2
MIER3	166968	broad.mit.edu	36	5	56260396	56260396	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56260396T>C	uc003jrc.1	-	c.894A>G	c.(892-894)GCA>GCG	p.A298A	MIER3_uc003jqz.1_Silent_p.A230A|MIER3_uc003jra.1_Silent_p.A292A|MIER3_uc003jrb.1_Silent_p.A117A|MIER3_uc003jrd.1_Silent_p.A293A	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	293	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)												0.158416	59.979796	82.439752	32	170	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	Silent	SNP	56260396	56260396	9972	5	T	C	C	59	59	MIER3	C	4	4
GPBP1	65056	broad.mit.edu	36	5	56578705	56578705	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56578705C>A	uc010iwg.1	+	c.770C>A	c.(769-771)TCT>TAT	p.S257Y	GPBP1_uc003jrh.2_Missense_Mutation_p.S237Y|GPBP1_uc003jri.2_Missense_Mutation_p.S66Y|GPBP1_uc003jrj.2_Missense_Mutation_p.S244Y|GPBP1_uc003jrk.2_Missense_Mutation_p.S244Y|GPBP1_uc003jrl.2_Non-coding_Transcript	NM_001127235	NP_001120707	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 2	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)												0.151515	28.905026	44.269138	20	112	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	Missense_Mutation	SNP	56578705	56578705	6869	5	C	A	A	32	32	GPBP1	A	3	3
ACTBL2	345651	broad.mit.edu	36	5	56814217	56814217	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56814217G>A	uc003jrm.1	-	c.75C>T	c.(73-75)GAC>GAT	p.D25D		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	actin, beta-like 2	25						cytoplasm|cytoskeleton	ATP binding			ovary(3)	3		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)												0.225352	32.661593	37.583966	16	55	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	Silent	SNP	56814217	56814217	195	5	G	A	A	40	40	ACTBL2	A	1	1
PLK2	10769	broad.mit.edu	36	5	57786574	57786574	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:57786574C>T	uc003jrn.1	-	c.1787G>A	c.(1786-1788)CGA>CAA	p.R596Q		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	596					positive regulation of I-kappaB kinase/NF-kappaB cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)	3		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)								266				0.228792	190.888599	217.128432	89	300	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	Missense_Mutation	SNP	57786574	57786574	12522	5	C	T	T	31	31	PLK2	T	1	1
PDE4D	5144	broad.mit.edu	36	5	58308846	58308846	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:58308846C>A	uc003jsa.2	-	c.1636G>T	c.(1636-1638)GAA>TAA	p.E546*	PDE4D_uc003jrx.2_Nonsense_Mutation_p.E410*|PDE4D_uc003jry.2_Nonsense_Mutation_p.E244*|PDE4D_uc003jrz.2_Nonsense_Mutation_p.E482*|PDE4D_uc003jsb.2_Nonsense_Mutation_p.E485*|PDE4D_uc003jrs.2_Nonsense_Mutation_p.E255*|PDE4D_uc003jrt.2_Nonsense_Mutation_p.E244*|PDE4D_uc003jru.2_Nonsense_Mutation_p.E322*|PDE4D_uc003jrv.2_Nonsense_Mutation_p.E416*|PDE4D_uc003jrw.2_Nonsense_Mutation_p.E424*	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	cAMP-specific phosphodiesterase 4D isoform 1	546					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)			Adenosine monophosphate(DB00131)|Dyphylline(DB00651)									0.24	114.710612	128.619396	54	171	CC		KEEP	---	---	---	---	capture		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Nonsense_Mutation	SNP	58308846	58308846	12063	5	C	A	A	32	32	PDE4D	A	5	3
DEPDC1B	55789	broad.mit.edu	36	5	59970435	59970435	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:59970435C>A	uc003jsh.1	-	c.797G>T	c.(796-798)GGA>GTA	p.G266V		NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	266	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)												0.16763	45.657804	63.781357	29	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59970435	59970435	4619	5	C	A	A	30	30	DEPDC1B	A	3	3
ELOVL7	79993	broad.mit.edu	36	5	60086278	60086278	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:60086278C>T	uc003jsi.2	-	c.776G>A	c.(775-777)CGT>CAT	p.R259H	ELOVL7_uc010iwk.1_Missense_Mutation_p.R259H|ELOVL7_uc003jsj.2_Missense_Mutation_p.R246H	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	259					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)												0.246835	86.944202	96.165963	39	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60086278	60086278	5271	5	C	T	T	19	19	ELOVL7	T	1	1
ELOVL7	79993	broad.mit.edu	36	5	60086399	60086399	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:60086399C>T	uc003jsi.2	-	c.655G>A	c.(655-657)GCC>ACC	p.A219T	ELOVL7_uc010iwk.1_Missense_Mutation_p.A219T|ELOVL7_uc003jsj.2_Missense_Mutation_p.A206T	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	219	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)												0.176991	35.650708	46.745581	20	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60086399	60086399	5271	5	C	T	T	27	27	ELOVL7	T	1	1
ELOVL7	79993	broad.mit.edu	36	5	60089198	60089198	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:60089198A>G	uc003jsi.2	-	c.531T>C	c.(529-531)AAT>AAC	p.N177N	ELOVL7_uc010iwk.1_Silent_p.N177N|ELOVL7_uc003jsj.2_Silent_p.N164N	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	177	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)												0.44	180.912055	181.303023	55	70	AA		KEEP	---	---	---	---	capture			Silent	SNP	60089198	60089198	5271	5	A	G	G	16	16	ELOVL7	G	4	4
ERCC8	1161	broad.mit.edu	36	5	60234072	60234072	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:60234072C>T	uc003jsm.2	-	c.571G>A	c.(571-573)GCA>ACA	p.A191T	ERCC8_uc003jsk.1_Non-coding_Transcript|ERCC8_uc003jsl.2_Missense_Mutation_p.A133T	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	191	WD 3.				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)												0.175966	82.928875	105.995255	41	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60234072	60234072	5412	5	C	T	T	28	28	ERCC8	T	2	2
KIF2A	3796	broad.mit.edu	36	5	61696927	61696927	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:61696927G>A	uc003jsz.2	+	c.1568G>A	c.(1567-1569)CGT>CAT	p.R523H	KIF2A_uc003jsy.2_Missense_Mutation_p.R523H|KIF2A_uc010iwp.1_Missense_Mutation_p.R504H|KIF2A_uc003jsx.2_Missense_Mutation_p.R503H|KIF2A_uc010iwq.1_Missense_Mutation_p.R326H	NM_001098511	NP_001091981	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 2	523	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	cytosol|microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)												0.455696	98.784877	98.920467	36	43	GG		KEEP	---	---	---	---	capture		Lung(70;0.14)	Missense_Mutation	SNP	61696927	61696927	8608	5	G	A	A	40	40	KIF2A	A	1	1
IPO11	51194	broad.mit.edu	36	5	61821713	61821713	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:61821713G>A	uc003jtc.1	+	c.1372G>A	c.(1372-1374)GGA>AGA	p.G458R	IPO11_uc003jtb.1_Missense_Mutation_p.G458R	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	458	HEAT 4.					cytoplasm|nucleus	protein binding			lung(2)|skin(1)	3		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)												0.169065	83.133105	111.977886	47	231	GG		KEEP	---	---	---	---	capture		Lung(70;0.0613)	Missense_Mutation	SNP	61821713	61821713	8094	5	G	A	A	47	47	IPO11	A	2	2
IPO11	51194	broad.mit.edu	36	5	61836468	61836468	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:61836468G>T	uc003jtc.1	+	c.1651G>T	c.(1651-1653)GAT>TAT	p.D551Y	IPO11_uc003jtd.1_Non-coding_Transcript	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	551						cytoplasm|nucleus	protein binding			lung(2)|skin(1)	3		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)												0.338462	55.824695	57.327092	22	43	GG		KEEP	---	---	---	---	capture		Lung(70;0.0613)	Missense_Mutation	SNP	61836468	61836468	8094	5	G	T	T	33	33	IPO11	T	3	3
IPO11	51194	broad.mit.edu	36	5	61868285	61868285	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:61868285G>A	uc003jtc.1	+	c.2090_splice	c.e23-1	p.E697_splice	IPO11_uc003jtd.1_Splice_Site_SNP|IPO11_uc010iwr.1_Intron	NM_016338	NP_057422			Ran binding protein 11 isoform 2							cytoplasm|nucleus	protein binding			lung(2)|skin(1)	3		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)												0.12766	16.230686	28.939718	12	82	GG		KEEP	---	---	---	---	capture		Lung(70;0.0613)	Splice_Site_SNP	SNP	61868285	61868285	8094	5	G	A	A	33	33	IPO11	A	5	2
IPO11	51194	broad.mit.edu	36	5	61882048	61882048	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:61882048T>C	uc003jtc.1	+	c.2346_splice	c.e25+2	p.E782_splice	IPO11_uc003jtd.1_Splice_Site_SNP|IPO11_uc010iwr.1_Splice_Site_SNP_p.E47_splice	NM_016338	NP_057422			Ran binding protein 11 isoform 2							cytoplasm|nucleus	protein binding			lung(2)|skin(1)	3		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)												0.216216	82.529092	93.521645	32	116	TT		KEEP	---	---	---	---	capture		Lung(70;0.0613)	Splice_Site_SNP	SNP	61882048	61882048	8094	5	T	C	C	57	57	IPO11	C	5	4
IPO11	51194	broad.mit.edu	36	5	61923254	61923254	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:61923254G>T	uc003jtc.1	+	c.2677G>T	c.(2677-2679)GAC>TAC	p.D893Y	IPO11_uc010iwr.1_Missense_Mutation_p.D158Y|IPO11_uc003jte.1_Missense_Mutation_p.D12Y	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	893						cytoplasm|nucleus	protein binding			lung(2)|skin(1)	3		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)												0.258929	63.212257	69.11755	29	83	GG		KEEP	---	---	---	---	capture		Lung(70;0.0613)	Missense_Mutation	SNP	61923254	61923254	8094	5	G	T	T	33	33	IPO11	T	3	3
HTR1A	3350	broad.mit.edu	36	5	63292329	63292329	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:63292329T>G	uc003jtg.1	-	c.974A>C	c.(973-975)AAT>ACT	p.N325T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	325	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)			Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.203065	128.430086	149.80331	53	208	TT		KEEP	---	---	---	---	capture		Lung(70;0.105)	Missense_Mutation	SNP	63292329	63292329	7736	5	T	G	G	52	52	HTR1A	G	4	4
MED10	84246	broad.mit.edu	36	5	6427449	6427449	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:6427449G>A	uc003jdo.1	-	c.297C>T	c.(295-297)ATC>ATT	p.I99I		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	99					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(1)	1														0.434211	459.418974	460.850923	165	215	GG		KEEP	---	---	---	---	capture			Silent	SNP	6427449	6427449	9815	5	G	A	A	37	37	MED10	A	1	1
CWC27	10283	broad.mit.edu	36	5	64349747	64349747	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:64349747C>A	uc003jtn.1	+	c.1262C>A	c.(1261-1263)TCA>TAA	p.S421*	CWC27_uc010iwt.1_Silent_p.V386V	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	421					nuclear mRNA splicing, via spliceosome|protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0														0.408669	359.756892	362.130456	132	191	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	64349747	64349747	4230	5	C	A	A	29	29	CWC27	A	5	3
CENPK	64105	broad.mit.edu	36	5	64886412	64886412	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:64886412C>T	uc003jts.1	-	c.79G>A	c.(79-81)GAA>AAA	p.E27K	CENPK_uc003jtt.1_5'UTR|CENPK_uc003jtu.1_Missense_Mutation_p.E27K	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	27	Potential.				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)												0.195187	151.23633	183.661049	73	301	CC		KEEP	---	---	---	---	capture		Lung(70;0.00466)	Missense_Mutation	SNP	64886412	64886412	3368	5	C	T	T	32	32	CENPK	T	2	2
TRIM23	373	broad.mit.edu	36	5	64942449	64942449	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:64942449C>A	uc003jty.1	-	c.823G>T	c.(823-825)GAA>TAA	p.E275*	TRIM23_uc003jtw.1_Nonsense_Mutation_p.E275*|TRIM23_uc003jtx.1_Nonsense_Mutation_p.E275*	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	275					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)												0.203488	64.411126	78.47021	35	137	CC		KEEP	---	---	---	---	capture		Lung(70;0.00473)	Nonsense_Mutation	SNP	64942449	64942449	17041	5	C	A	A	32	32	TRIM23	A	5	3
ERBB2IP	55914	broad.mit.edu	36	5	65355946	65355946	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:65355946A>C	uc010iwx.1	+	c.729A>C	c.(727-729)GAA>GAC	p.E243D	ERBB2IP_uc003juh.1_Missense_Mutation_p.E243D|ERBB2IP_uc003jui.1_Missense_Mutation_p.E243D|ERBB2IP_uc003juj.1_Missense_Mutation_p.E243D|ERBB2IP_uc003juk.1_Missense_Mutation_p.E243D|ERBB2IP_uc003jul.1_Missense_Mutation_p.E243D	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	243	LRR 10.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(1)	6		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)												0.184211	101.035162	122.346772	42	186	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	Missense_Mutation	SNP	65355946	65355946	5400	5	A	C	C	1	1	ERBB2IP	C	4	4
ERBB2IP	55914	broad.mit.edu	36	5	65357448	65357448	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:65357448G>T	uc010iwx.1	+	c.907G>T	c.(907-909)GAA>TAA	p.E303*	ERBB2IP_uc003juh.1_Nonsense_Mutation_p.E303*|ERBB2IP_uc003jui.1_Nonsense_Mutation_p.E303*|ERBB2IP_uc003juj.1_Nonsense_Mutation_p.E303*|ERBB2IP_uc003juk.1_Nonsense_Mutation_p.E303*|ERBB2IP_uc003jul.1_Nonsense_Mutation_p.E303*	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	303	LRR 13.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(1)	6		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)												0.326087	37.40556	38.641754	15	31	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	Nonsense_Mutation	SNP	65357448	65357448	5400	5	G	T	T	33	33	ERBB2IP	T	5	3
ERBB2IP	55914	broad.mit.edu	36	5	65386506	65386506	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:65386506C>T	uc010iwx.1	+	c.3592C>T	c.(3592-3594)CGA>TGA	p.R1198*	ERBB2IP_uc003jui.1_Nonsense_Mutation_p.R1202*|ERBB2IP_uc003juj.1_Nonsense_Mutation_p.R1202*|ERBB2IP_uc003juk.1_Nonsense_Mutation_p.R1202*|ERBB2IP_uc003jul.1_Nonsense_Mutation_p.R1198*	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	1202					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(1)	6		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)												0.48913	129.466621	129.476162	45	47	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	Nonsense_Mutation	SNP	65386506	65386506	5400	5	C	T	T	31	31	ERBB2IP	T	5	1
MAST4	375449	broad.mit.edu	36	5	66461873	66461873	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:66461873C>T	uc003jut.1	+	c.1258C>T	c.(1258-1260)CGA>TGA	p.R420*	MAST4_uc003juu.1_Nonsense_Mutation_p.R430*|MAST4_uc003juv.1_Nonsense_Mutation_p.R415*	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	612	Protein kinase.				protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)								805				0.460993	186.455139	186.642427	65	76	CC		KEEP	---	---	---	---	capture		Lung(70;0.011)	Nonsense_Mutation	SNP	66461873	66461873	9711	5	C	T	T	31	31	MAST4	T	5	1
MAST4	375449	broad.mit.edu	36	5	66495245	66495245	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:66495245C>T	uc003jut.1	+	c.3915C>T	c.(3913-3915)TGC>TGT	p.C1305C	MAST4_uc003juw.1_Silent_p.C547C|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1497					protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)							p.C1305C(CI1-Tumor)	805				0.423077	28.552778	28.67827	11	15	CC		KEEP	---	---	---	---	capture		Lung(70;0.011)	Silent	SNP	66495245	66495245	9711	5	C	T	T	27	27	MAST4	T	1	1
MAST4	375449	broad.mit.edu	36	5	66496748	66496748	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:66496748G>A	uc003jut.1	+	c.5418G>A	c.(5416-5418)GAG>GAA	p.E1806E	MAST4_uc003juw.1_Silent_p.E1048E|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1998					protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)								805				0.230769	12.636675	14.364269	6	20	GG		KEEP	---	---	---	---	capture		Lung(70;0.011)	Silent	SNP	66496748	66496748	9711	5	G	A	A	34	34	MAST4	A	2	2
NSUN2	54888	broad.mit.edu	36	5	6658471	6658471	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:6658471C>T	uc003jdu.1	-	c.1652G>A	c.(1651-1653)CGG>CAG	p.R551Q	NSUN2_uc003jdv.1_Missense_Mutation_p.R315Q|NSUN2_uc003jds.1_5'Flank|NSUN2_uc003jdt.1_Missense_Mutation_p.R315Q	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family 2 protein	551						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1														0.182073	126.66327	160.562422	65	292	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6658471	6658471	11083	5	C	T	T	23	23	NSUN2	T	1	1
NSUN2	54888	broad.mit.edu	36	5	6678725	6678725	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:6678725C>T	uc003jdu.1	-	c.417G>A	c.(415-417)TCG>TCA	p.S139S	NSUN2_uc003jdv.1_5'UTR	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family 2 protein	139				S->A: Induces a constitutive association with NPM1.|S->E: Mimicks constitutive phosphorylation and abolishes methyltransferase activity.		cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1														0.162791	33.487733	47.439817	21	108	CC		KEEP	---	---	---	---	capture			Silent	SNP	6678725	6678725	11083	5	C	T	T	27	27	NSUN2	T	1	1
NSUN2	54888	broad.mit.edu	36	5	6685730	6685730	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:6685730C>A	uc003jdu.1	-	c.236G>T	c.(235-237)AGA>ATA	p.R79I	NSUN2_uc003jdv.1_5'UTR|SRD5A1_uc003jdw.1_5'Flank	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family 2 protein	79						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1														0.417476	332.530788	334.386369	129	180	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6685730	6685730	11083	5	C	A	A	32	32	NSUN2	A	3	3
PIK3R1	5295	broad.mit.edu	36	5	67626869	67626869	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:67626869A>G	uc003jva.1	+	c.1706A>G	c.(1705-1707)GAC>GGC	p.D569G	PIK3R1_uc003jvb.1_Missense_Mutation_p.D569G|PIK3R1_uc003jvc.1_Missense_Mutation_p.D269G|PIK3R1_uc003jvd.1_Missense_Mutation_p.D299G|PIK3R1_uc003jve.1_Missense_Mutation_p.D248G	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	569					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	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	99		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)			Isoproterenol(DB01064)				p.D569A(2313287-Tumor)	370	TCGA GBM(4;<1E-8)			0.443114	251.019937	251.490808	74	93	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Missense_Mutation	SNP	67626869	67626869	12342	5	A	G	G	10	10	PIK3R1	G	4	4
PAPD7	11044	broad.mit.edu	36	5	6796922	6796922	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:6796922G>A	uc003jdx.1	+	c.464G>A	c.(463-465)AGC>AAC	p.S155N	PAPD7_uc010itl.1_5'Flank	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	155					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding			ovary(1)	1						NSCLC(7;212 333 5667 23379 46547)								0.195046	131.950901	159.955959	63	260	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6796922	6796922	11843	5	G	A	A	34	34	PAPD7	A	2	2
CCDC125	202243	broad.mit.edu	36	5	68616951	68616951	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:68616951G>T	uc003jvv.1	-	c.1199C>A	c.(1198-1200)CCT>CAT	p.P400H	CCDC125_uc003jvw.1_Missense_Mutation_p.P275H|CCDC125_uc003jvx.1_Missense_Mutation_p.L341I|CCDC125_uc003jvy.1_Non-coding_Transcript	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	400											0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)												0.21393	88.202658	103.407178	43	158	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	Missense_Mutation	SNP	68616951	68616951	2881	5	G	T	T	35	35	CCDC125	T	3	3
TAF9	6880	broad.mit.edu	36	5	68687248	68687248	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:68687248C>T	uc003jwa.1	-	c.310G>A	c.(310-312)GAA>AAA	p.E104K	TAF9_uc003jwb.1_Missense_Mutation_p.E101K	NM_016283	NP_057367	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding	Error:Variant_position_missing_in_Q16594_after_alignment					histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of response to cytokine stimulus|response to DNA damage stimulus|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|promoter binding|transcription coactivator activity				0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)												0.236364	58.59208	65.583789	26	84	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	Missense_Mutation	SNP	68687248	68687248	16056	5	C	T	T	31	31	TAF9	T	1	1
RAD17	5884	broad.mit.edu	36	5	68718022	68718022	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:68718022C>T	uc003jwo.1	+	c.901C>T	c.(901-903)CGA>TGA	p.R301*	RAD17_uc003jwg.1_Nonsense_Mutation_p.R290*|RAD17_uc003jwi.1_Nonsense_Mutation_p.R290*|RAD17_uc003jwh.1_Nonsense_Mutation_p.R290*|RAD17_uc003jwj.1_Nonsense_Mutation_p.R290*|RAD17_uc003jwk.1_Nonsense_Mutation_p.R290*|RAD17_uc003jwl.1_Nonsense_Mutation_p.R290*|RAD17_uc003jwm.1_Nonsense_Mutation_p.R125*|RAD17_uc003jwn.1_Nonsense_Mutation_p.R204*	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	301					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)												0.371795	159.00935	161.261865	58	98	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	Nonsense_Mutation	SNP	68718022	68718022	13438	5	C	T	T	31	31	RAD17	T	5	1
RAD17	5884	broad.mit.edu	36	5	68723416	68723416	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:68723416G>T	uc003jwo.1	+	c.1042G>T	c.(1042-1044)GAA>TAA	p.E348*	RAD17_uc003jwg.1_Nonsense_Mutation_p.E337*|RAD17_uc003jwi.1_Nonsense_Mutation_p.E337*|RAD17_uc003jwh.1_Nonsense_Mutation_p.E337*|RAD17_uc003jwj.1_Nonsense_Mutation_p.E337*|RAD17_uc003jwk.1_Nonsense_Mutation_p.E337*|RAD17_uc003jwl.1_Nonsense_Mutation_p.E337*|RAD17_uc003jwm.1_Nonsense_Mutation_p.E172*|RAD17_uc003jwn.1_Nonsense_Mutation_p.E251*|RAD17_uc003jwp.1_5'Flank	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	348					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)												0.158537	39.541151	57.776187	26	138	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	Nonsense_Mutation	SNP	68723416	68723416	13438	5	G	T	T	33	33	RAD17	T	5	3
MARVELD2	153562	broad.mit.edu	36	5	68751183	68751183	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:68751183C>T	uc003jwq.1	+	c.215C>T	c.(214-216)GCG>GTG	p.A72V	MARVELD2_uc010ixf.1_Missense_Mutation_p.A72V|MARVELD2_uc003jwr.1_Missense_Mutation_p.A72V|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	72	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)												0.243523	104.866564	116.415122	47	146	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	Missense_Mutation	SNP	68751183	68751183	9702	5	C	T	T	27	27	MARVELD2	T	1	1
MARVELD2	153562	broad.mit.edu	36	5	68773164	68773164	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:68773164A>C	uc003jwq.1	+	c.1604A>C	c.(1603-1605)AAA>ACA	p.K535T	MARVELD2_uc010ixf.1_Missense_Mutation_p.K523T|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	535	Potential.|Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)												0.479339	194.14605	194.190751	58	63	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	Missense_Mutation	SNP	68773164	68773164	9702	5	A	C	C	1	1	MARVELD2	C	4	4
OCLN	4950	broad.mit.edu	36	5	68840730	68840730	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:68840730G>A	uc003jwu.1	+	c.57G>A	c.(55-57)CCG>CCA	p.P19P	OCLN_uc003jwv.2_Silent_p.P19P	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)												0.412281	261.703718	263.236426	94	134	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	Silent	SNP	68840730	68840730	11225	5	G	A	A	37	37	OCLN	A	1	1
BDP1	55814	broad.mit.edu	36	5	70795680	70795680	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70795680G>A	uc003kbp.1	+	c.639G>A	c.(637-639)TCG>TCA	p.S213S	BDP1_uc003kbn.1_Silent_p.S213S|BDP1_uc003kbo.2_Silent_p.S213S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	213	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.194805	29.778481	36.470131	15	62	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Silent	SNP	70795680	70795680	1417	5	G	A	A	37	37	BDP1	A	1	1
BDP1	55814	broad.mit.edu	36	5	70828901	70828901	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70828901C>A	uc003kbp.1	+	c.1848C>A	c.(1846-1848)TTC>TTA	p.F616L	BDP1_uc003kbn.1_Missense_Mutation_p.F616L|BDP1_uc003kbo.2_Missense_Mutation_p.F616L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	616					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.19883	61.631601	76.092912	34	137	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Missense_Mutation	SNP	70828901	70828901	1417	5	C	A	A	30	30	BDP1	A	3	3
BDP1	55814	broad.mit.edu	36	5	70841257	70841257	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70841257T>C	uc003kbp.1	+	c.2582T>C	c.(2581-2583)GTA>GCA	p.V861A	BDP1_uc003kbn.1_Missense_Mutation_p.V861A|BDP1_uc003kbo.2_Missense_Mutation_p.V861A	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	861	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|1; approximate.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.482759	284.201441	284.245688	84	90	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Missense_Mutation	SNP	70841257	70841257	1417	5	T	C	C	57	57	BDP1	C	4	4
BDP1	55814	broad.mit.edu	36	5	70842318	70842318	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70842318G>T	uc003kbp.1	+	c.3643G>T	c.(3643-3645)GAG>TAG	p.E1215*	BDP1_uc003kbn.1_Nonsense_Mutation_p.E1215*|BDP1_uc003kbo.2_Nonsense_Mutation_p.E1215*	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1215	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|8; approximate.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.197115	63.062221	80.975809	41	167	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Nonsense_Mutation	SNP	70842318	70842318	1417	5	G	T	T	33	33	BDP1	T	5	3
BDP1	55814	broad.mit.edu	36	5	70847812	70847812	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70847812G>A	uc003kbp.1	+	c.4818G>A	c.(4816-4818)ACG>ACA	p.T1606T	BDP1_uc003kbo.2_Silent_p.T1606T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1606					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.596154	93.831896	94.252281	31	21	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Silent	SNP	70847812	70847812	1417	5	G	A	A	37	37	BDP1	A	1	1
BDP1	55814	broad.mit.edu	36	5	70855534	70855534	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70855534G>A	uc003kbp.1	+	c.5400G>A	c.(5398-5400)CCG>CCA	p.P1800P	BDP1_uc003kbo.2_Silent_p.P1800P|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1800					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.420561	248.637646	249.80866	90	124	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Silent	SNP	70855534	70855534	1417	5	G	A	A	40	40	BDP1	A	1	1
BDP1	55814	broad.mit.edu	36	5	70855817	70855817	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70855817G>A	uc003kbp.1	+	c.5683G>A	c.(5683-5685)GAA>AAA	p.E1895K	BDP1_uc003kbo.2_Missense_Mutation_p.E1895K|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1895					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.408922	303.793298	305.743436	110	159	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Missense_Mutation	SNP	70855817	70855817	1417	5	G	A	A	37	37	BDP1	A	1	1
BDP1	55814	broad.mit.edu	36	5	70875969	70875969	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70875969G>T	uc003kbp.1	+	c.6442G>T	c.(6442-6444)GAA>TAA	p.E2148*	BDP1_uc003kbo.2_Nonsense_Mutation_p.E2148*|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2148					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.467593	274.428183	274.627829	101	115	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Nonsense_Mutation	SNP	70875969	70875969	1417	5	G	T	T	33	33	BDP1	T	5	3
BDP1	55814	broad.mit.edu	36	5	70881173	70881173	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70881173G>A	uc003kbp.1	+	c.6979G>A	c.(6979-6981)GAA>AAA	p.E2327K	BDP1_uc003kbq.1_Intron|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2327					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.190909	42.804188	52.632269	21	89	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Missense_Mutation	SNP	70881173	70881173	1417	5	G	A	A	33	33	BDP1	A	2	2
MCCC2	64087	broad.mit.edu	36	5	70963725	70963725	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70963725G>T	uc003kbs.2	+	c.760G>T	c.(760-762)GAA>TAA	p.E254*	MCCC2_uc010iyv.1_Nonsense_Mutation_p.E254*|MCCC2_uc003kbt.2_Non-coding_Transcript|MCCC2_uc003kbu.1_Nonsense_Mutation_p.E123*	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	254	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)			Biotin(DB00121)									0.184549	75.066955	96.838409	43	190	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Nonsense_Mutation	SNP	70963725	70963725	9764	5	G	T	T	33	33	MCCC2	T	5	3
MAP1B	4131	broad.mit.edu	36	5	71526411	71526411	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71526411G>A	uc003kbw.2	+	c.1473G>A	c.(1471-1473)GGG>GGA	p.G491G	MAP1B_uc010iyw.1_Silent_p.G508G|MAP1B_uc010iyx.1_Silent_p.G365G|MAP1B_uc010iyy.1_Silent_p.G365G	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	491						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)				Melanoma(17;367 822 11631 31730 47712)								0.1875	77.876031	96.842937	39	169	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	Silent	SNP	71526411	71526411	9611	5	G	A	A	41	41	MAP1B	A	2	2
MAP1B	4131	broad.mit.edu	36	5	71528429	71528429	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71528429A>C	uc003kbw.2	+	c.3491A>C	c.(3490-3492)AAA>ACA	p.K1164T	MAP1B_uc010iyw.1_Missense_Mutation_p.K1181T|MAP1B_uc010iyx.1_Missense_Mutation_p.K1038T|MAP1B_uc010iyy.1_Missense_Mutation_p.K1038T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1164						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)				Melanoma(17;367 822 11631 31730 47712)								0.23622	78.687257	86.764315	30	97	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	Missense_Mutation	SNP	71528429	71528429	9611	5	A	C	C	1	1	MAP1B	C	4	4
MAP1B	4131	broad.mit.edu	36	5	71529214	71529214	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71529214G>A	uc003kbw.2	+	c.4276G>A	c.(4276-4278)GAA>AAA	p.E1426K	MAP1B_uc010iyw.1_Missense_Mutation_p.E1443K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1300K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1300K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1426						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)				Melanoma(17;367 822 11631 31730 47712)								0.396226	112.420442	113.42119	42	64	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	Missense_Mutation	SNP	71529214	71529214	9611	5	G	A	A	37	37	MAP1B	A	1	1
MAP1B	4131	broad.mit.edu	36	5	71530969	71530969	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71530969A>G	uc003kbw.2	+	c.6031A>G	c.(6031-6033)ACT>GCT	p.T2011A	MAP1B_uc010iyw.1_Missense_Mutation_p.T2028A|MAP1B_uc010iyx.1_Missense_Mutation_p.T1885A|MAP1B_uc010iyy.1_Missense_Mutation_p.T1885A	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2011	MAP1B 7.					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)				Melanoma(17;367 822 11631 31730 47712)								0.199179	224.42105	265.420508	97	390	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	Missense_Mutation	SNP	71530969	71530969	9611	5	A	G	G	6	6	MAP1B	G	4	4
MAP1B	4131	broad.mit.edu	36	5	71535360	71535360	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71535360G>T	uc003kbw.2	+	c.7227G>T	c.(7225-7227)AAG>AAT	p.K2409N		NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2409						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)				Melanoma(17;367 822 11631 31730 47712)								0.205479	29.07789	34.957181	15	58	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	Missense_Mutation	SNP	71535360	71535360	9611	5	G	T	T	35	35	MAP1B	T	3	3
MRPS27	23107	broad.mit.edu	36	5	71559928	71559928	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71559928A>G	uc003kbz.2	-	c.615T>C	c.(613-615)GGT>GGC	p.G205G	MRPS27_uc003kca.2_Silent_p.G149G|MRPS27_uc010iyz.1_Non-coding_Transcript|MRPS27_uc010iza.1_Silent_p.G149G	NM_015084	NP_055899	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	205						mitochondrion|ribosome					0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)												0.132867	28.636513	47.345219	19	124	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	Silent	SNP	71559928	71559928	10231	5	A	G	G	6	6	MRPS27	G	4	4
MRPS27	23107	broad.mit.edu	36	5	71565714	71565714	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71565714C>A	uc003kbz.2	-	c.463G>T	c.(463-465)GAA>TAA	p.E155*	MRPS27_uc003kca.2_Nonsense_Mutation_p.E99*|MRPS27_uc010iyz.1_Non-coding_Transcript|MRPS27_uc010iza.1_Nonsense_Mutation_p.E99*	NM_015084	NP_055899	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	155	PPR 2.					mitochondrion|ribosome					0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)												0.173077	14.642402	19.893342	9	43	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	Nonsense_Mutation	SNP	71565714	71565714	10231	5	C	A	A	32	32	MRPS27	A	5	3
ZNF366	167465	broad.mit.edu	36	5	71791996	71791996	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71791996C>A	uc003kce.1	-	c.1084G>T	c.(1084-1086)GGG>TGG	p.G362W		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)												0.315068	55.682427	57.912952	23	50	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	Missense_Mutation	SNP	71791996	71791996	18462	5	C	A	A	21	21	ZNF366	A	3	3
ZNF366	167465	broad.mit.edu	36	5	71792996	71792996	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71792996G>A	uc003kce.1	-	c.84C>T	c.(82-84)TGC>TGT	p.C28C		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)												0.248677	101.760345	112.610092	47	142	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	Silent	SNP	71792996	71792996	18462	5	G	A	A	42	42	ZNF366	A	2	2
TMEM171	134285	broad.mit.edu	36	5	72455150	72455150	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:72455150C>T	uc003kcm.1	+	c.194C>T	c.(193-195)GCA>GTA	p.A65V	TMEM171_uc003kcn.2_Missense_Mutation_p.A65V	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171	65	Helical; (Potential).					integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)				NSCLC(112;638 2280 27369 30736)								0.243243	92.565613	103.70146	45	140	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	Missense_Mutation	SNP	72455150	72455150	16622	5	C	T	T	25	25	TMEM171	T	2	2
TMEM171	134285	broad.mit.edu	36	5	72455424	72455424	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:72455424G>A	uc003kcm.1	+	c.468G>A	c.(466-468)CGG>CGA	p.R156R	TMEM171_uc003kcn.2_Silent_p.R156R	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171	156						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)				NSCLC(112;638 2280 27369 30736)								0.264706	167.193298	180.797588	72	200	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	Silent	SNP	72455424	72455424	16622	5	G	A	A	41	41	TMEM171	A	2	2
BTF3	689	broad.mit.edu	36	5	72835942	72835942	+	Missense_Mutation	SNP	G	T	T	rs12332640	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:72835942G>T	uc003kcr.1	+	c.532G>T	c.(532-534)GCA>TCA	p.A178S	BTF3_uc003kcq.1_Missense_Mutation_p.A134S|BTF3_uc003kct.1_Non-coding_Transcript|BTF3_uc003kcs.1_Non-coding_Transcript	NM_001037637	NP_001198	P20290	BTF3_HUMAN	basic transcription factor 3 isoform A	178					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|RNA polymerase II transcription factor activity				0		Lung NSC(167;0.00405)|Ovarian(174;0.0175)												0.456311	128.902815	129.074779	47	56	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)	Missense_Mutation	SNP	72835942	72835942	1585	5	G	T	T	34	34	BTF3	T	3	3
UTP15	84135	broad.mit.edu	36	5	72900049	72900049	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:72900049C>T	uc003kcw.1	+	c.232C>T	c.(232-234)CGA>TGA	p.R78*	ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.1_5'Flank|UTP15_uc010ize.1_Nonsense_Mutation_p.R78*	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	78	WD 2.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)												0.427184	249.262241	250.215519	88	118	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	Nonsense_Mutation	SNP	72900049	72900049	17662	5	C	T	T	31	31	UTP15	T	5	1
RGNEF	64283	broad.mit.edu	36	5	73081438	73081438	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:73081438G>A	uc010izf.1	+	c.54G>A	c.(52-54)GCG>GCA	p.A18A	RGNEF_uc003kcx.1_Silent_p.A18A|RGNEF_uc003kcy.1_Silent_p.A18A	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	18					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)												0.355191	171.483238	174.838474	65	118	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	Silent	SNP	73081438	73081438	13756	5	G	A	A	37	37	RGNEF	A	1	1
RGNEF	64283	broad.mit.edu	36	5	73084509	73084509	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:73084509G>A	uc010izf.1	+	c.201G>A	c.(199-201)ACG>ACA	p.T67T	RGNEF_uc003kcx.1_Silent_p.T67T|RGNEF_uc003kcy.1_Silent_p.T67T	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	67					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)												0.257576	41.043549	44.560023	17	49	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	Silent	SNP	73084509	73084509	13756	5	G	A	A	39	39	RGNEF	A	1	1
RGNEF	64283	broad.mit.edu	36	5	73226099	73226099	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:73226099C>T	uc010izf.1	+	c.3784C>T	c.(3784-3786)CCT>TCT	p.P1262S	RGNEF_uc003kcx.1_Missense_Mutation_p.P1262S|RGNEF_uc003kcz.2_Missense_Mutation_p.P226S|RGNEF_uc003kda.2_Missense_Mutation_p.P226S	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	1262					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)												0.457831	99.316162	99.446541	38	45	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	Missense_Mutation	SNP	73226099	73226099	13756	5	C	T	T	18	18	RGNEF	T	2	2
GFM2	84340	broad.mit.edu	36	5	74061930	74061930	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:74061930C>T	uc010izj.1	-	c.1733G>A	c.(1732-1734)CGA>CAA	p.R578Q	GFM2_uc003kdh.1_Missense_Mutation_p.R546Q|GFM2_uc003kdi.1_Missense_Mutation_p.R499Q|GFM2_uc010izk.1_Intron	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	546					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)												0.442424	205.036042	205.514361	73	92	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	Missense_Mutation	SNP	74061930	74061930	6610	5	C	T	T	31	31	GFM2	T	1	1
GFM2	84340	broad.mit.edu	36	5	74068414	74068414	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:74068414G>T	uc010izj.1	-	c.1569C>A	c.(1567-1569)TTC>TTA	p.F523L	GFM2_uc003kdh.1_Missense_Mutation_p.F491L|GFM2_uc003kdi.1_Missense_Mutation_p.F444L|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Missense_Mutation_p.F491L	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	491					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)												0.204678	65.486201	79.287527	35	136	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	Missense_Mutation	SNP	74068414	74068414	6610	5	G	T	T	33	33	GFM2	T	3	3
GFM2	84340	broad.mit.edu	36	5	74070130	74070130	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:74070130G>A	uc010izj.1	-	c.1269C>T	c.(1267-1269)GGC>GGT	p.G423G	GFM2_uc003kdh.1_Silent_p.G391G|GFM2_uc003kdi.1_Intron|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Silent_p.G391G	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	391					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)												0.203209	70.443933	85.745773	38	149	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	Silent	SNP	74070130	74070130	6610	5	G	A	A	46	46	GFM2	A	2	2
ADCY2	108	broad.mit.edu	36	5	7467794	7467794	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:7467794C>T	uc003jdz.1	+	c.319C>T	c.(319-321)CGC>TGC	p.R107C		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	107					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.494774	400.919721	400.926719	142	145	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7467794	7467794	295	5	C	T	T	27	27	ADCY2	T	1	1
HMGCR	3156	broad.mit.edu	36	5	74683154	74683154	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:74683154G>T	uc003kdp.1	+	c.1339G>T	c.(1339-1341)GAA>TAA	p.E447*	HMGCR_uc003kdq.1_Nonsense_Mutation_p.E447*	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	447	Linker.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)			Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)									0.356784	178.644907	182.250485	71	128	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Nonsense_Mutation	SNP	74683154	74683154	7522	5	G	T	T	33	33	HMGCR	T	5	3
POLK	51426	broad.mit.edu	36	5	74900955	74900955	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:74900955G>A	uc003kdw.1	+	c.290G>A	c.(289-291)CGA>CAA	p.R97Q	POLK_uc003kdx.1_Non-coding_Transcript|POLK_uc003kdy.1_Non-coding_Transcript|POLK_uc003kdz.2_Missense_Mutation_p.R97Q|POLK_uc003kea.2_Missense_Mutation_p.R97Q|POLK_uc003keb.2_Missense_Mutation_p.R97Q|POLK_uc010izq.1_Missense_Mutation_p.R97Q|POLK_uc003kec.1_Missense_Mutation_p.R7Q|POLK_uc010izr.1_Non-coding_Transcript|POLK_uc010izs.1_Non-coding_Transcript|POLK_uc003ked.1_Missense_Mutation_p.R7Q|POLK_uc003kee.1_Missense_Mutation_p.R97Q|POLK_uc003kef.1_Missense_Mutation_p.R7Q	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	97					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)												0.373832	108.170777	109.667102	40	67	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	Missense_Mutation	SNP	74900955	74900955	12632	5	G	A	A	37	37	POLK	A	1	1
POC5	134359	broad.mit.edu	36	5	75023998	75023998	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:75023998G>A	uc003keh.2	-	c.774C>T	c.(772-774)GGC>GGT	p.G258G	POC5_uc010izu.1_Silent_p.G141G|POC5_uc003keg.2_Silent_p.G233G	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	hypothetical protein LOC134359 isoform 1	258	Centrin-binding (CBR) 2.				cell cycle	centriole				lung(1)	1														0.451163	283.708706	284.144937	97	118	GG		KEEP	---	---	---	---	capture			Silent	SNP	75023998	75023998	12605	5	G	A	A	42	42	POC5	A	2	2
SV2C	22987	broad.mit.edu	36	5	75633064	75633064	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:75633064G>A	uc003kei.1	+	c.1938G>A	c.(1936-1938)TTG>TTA	p.L646L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	646	Helical; (Potential).				neurotransmitter transport|transmembrane transport	cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)												0.45657	558.854503	559.59712	205	244	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	Silent	SNP	75633064	75633064	15939	5	G	A	A	45	45	SV2C	A	2	2
IQGAP2	10788	broad.mit.edu	36	5	75793161	75793161	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:75793161C>T	uc003kek.1	+	c.57C>T	c.(55-57)GAC>GAT	p.D19D		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	19					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)												0.179487	61.398056	80.25577	35	160	CC		KEEP	---	---	---	---	capture		all cancers(79;1.38e-36)	Silent	SNP	75793161	75793161	8118	5	C	T	T	19	19	IQGAP2	T	1	1
IQGAP2	10788	broad.mit.edu	36	5	75907300	75907300	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:75907300C>A	uc003kek.1	+	c.408C>A	c.(406-408)GTC>GTA	p.V136V		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	136	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)												0.365854	115.230004	117.181154	45	78	CC		KEEP	---	---	---	---	capture		all cancers(79;1.38e-36)	Silent	SNP	75907300	75907300	8118	5	C	A	A	32	32	IQGAP2	A	3	3
IQGAP2	10788	broad.mit.edu	36	5	75922073	75922073	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:75922073C>T	uc003kek.1	+	c.725C>T	c.(724-726)GCG>GTG	p.A242V		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	242					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)												0.424242	190.815794	191.642758	70	95	CC		KEEP	---	---	---	---	capture		all cancers(79;1.38e-36)	Missense_Mutation	SNP	75922073	75922073	8118	5	C	T	T	27	27	IQGAP2	T	1	1
IQGAP2	10788	broad.mit.edu	36	5	75968754	75968754	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:75968754C>T	uc003kek.1	+	c.1920C>T	c.(1918-1920)ATC>ATT	p.I640I	IQGAP2_uc003kel.1_Silent_p.I193I|IQGAP2_uc010izv.1_Silent_p.I193I	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	640					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)												0.435374	180.073098	180.608885	64	83	CC		KEEP	---	---	---	---	capture		all cancers(79;1.38e-36)	Silent	SNP	75968754	75968754	8118	5	C	T	T	31	31	IQGAP2	T	1	1
IQGAP2	10788	broad.mit.edu	36	5	75984403	75984403	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:75984403T>G	uc003kek.1	+	c.2167T>G	c.(2167-2169)TCT>GCT	p.S723A	IQGAP2_uc003kel.1_Missense_Mutation_p.S219A|IQGAP2_uc010izv.1_Missense_Mutation_p.S276A	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	723	IQ 2.				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)												0.521053	320.870905	320.941907	99	91	TT		KEEP	---	---	---	---	capture		all cancers(79;1.38e-36)	Missense_Mutation	SNP	75984403	75984403	8118	5	T	G	G	62	62	IQGAP2	G	4	4
IQGAP2	10788	broad.mit.edu	36	5	76000294	76000294	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:76000294C>T	uc003kek.1	+	c.2712C>T	c.(2710-2712)TTC>TTT	p.F904F	IQGAP2_uc003kel.1_Silent_p.F400F	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	904					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)												0.384615	169.076045	170.891916	60	96	CC		KEEP	---	---	---	---	capture		all cancers(79;1.38e-36)	Silent	SNP	76000294	76000294	8118	5	C	T	T	30	30	IQGAP2	T	2	2
IQGAP2	10788	broad.mit.edu	36	5	76008916	76008916	+	Silent	SNP	C	T	T	rs457937	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:76008916C>T	uc003kek.1	+	c.3645C>T	c.(3643-3645)ATC>ATT	p.I1215I	IQGAP2_uc003kel.1_Silent_p.I711I|IQGAP2_uc010izw.1_Intron	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1215					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)												0.381579	75.156311	76.090815	29	47	CC		KEEP	---	---	---	---	capture		all cancers(79;1.38e-36)	Silent	SNP	76008916	76008916	8118	5	C	T	T	29	29	IQGAP2	T	2	2
F2RL1	2150	broad.mit.edu	36	5	76165205	76165205	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:76165205C>T	uc003keo.1	+	c.1017C>T	c.(1015-1017)ATC>ATT	p.I339I		NM_005242	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	339	Helical; Name=7; (Potential).				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			central_nervous_system(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)												0.667055	1752.27292	1773.509764	573	286	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	Silent	SNP	76165205	76165205	5538	5	C	T	T	31	31	F2RL1	T	1	1
S100Z	170591	broad.mit.edu	36	5	76206956	76206956	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:76206956G>A	uc003kep.1	+	c.16G>A	c.(16-18)GAG>AAG	p.E6K	S100Z_uc003keq.2_Missense_Mutation_p.E6K	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	6							calcium ion binding			ovary(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)												0.435897	91.22916	91.509631	34	44	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)	Missense_Mutation	SNP	76206956	76206956	14272	5	G	A	A	37	37	S100Z	A	1	1
PDE8B	8622	broad.mit.edu	36	5	76657290	76657290	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:76657290C>T	uc003kfa.1	+	c.570C>T	c.(568-570)TTC>TTT	p.F190F	PDE8B_uc003kfb.1_Silent_p.F170F|PDE8B_uc003kfc.1_Silent_p.F190F|PDE8B_uc003kfd.1_Silent_p.F190F|PDE8B_uc003kfe.1_Silent_p.F190F	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	190					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)												0.438272	199.499235	200.037221	71	91	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Silent	SNP	76657290	76657290	12075	5	C	T	T	31	31	PDE8B	T	1	1
PDE8B	8622	broad.mit.edu	36	5	76736336	76736336	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:76736336G>T	uc003kfa.1	+	c.1246G>T	c.(1246-1248)GAG>TAG	p.E416*	PDE8B_uc003kfb.1_Nonsense_Mutation_p.E396*|PDE8B_uc003kfc.1_Nonsense_Mutation_p.E416*|PDE8B_uc003kfd.1_Nonsense_Mutation_p.E369*|PDE8B_uc003kfe.1_Nonsense_Mutation_p.E319*	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	416					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)												0.408333	127.309133	128.200301	49	71	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Nonsense_Mutation	SNP	76736336	76736336	12075	5	G	T	T	33	33	PDE8B	T	5	3
PDE8B	8622	broad.mit.edu	36	5	76749828	76749828	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:76749828G>A	uc003kfa.1	+	c.1930G>A	c.(1930-1932)GAT>AAT	p.D644N	PDE8B_uc003kfb.1_Missense_Mutation_p.D624N|PDE8B_uc003kfc.1_Missense_Mutation_p.D589N|PDE8B_uc003kfd.1_Missense_Mutation_p.D597N|PDE8B_uc003kfe.1_Missense_Mutation_p.D547N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	644	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)												0.166667	42.907896	58.081482	24	120	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Missense_Mutation	SNP	76749828	76749828	12075	5	G	A	A	41	41	PDE8B	A	2	2
WDR41	55255	broad.mit.edu	36	5	76769932	76769932	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:76769932G>A	uc003kff.1	-	c.893C>T	c.(892-894)GCT>GTT	p.A298V		NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	298											0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)												0.457286	251.489431	251.806805	91	108	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	Missense_Mutation	SNP	76769932	76769932	17867	5	G	A	A	34	34	WDR41	A	2	2
AP3B1	8546	broad.mit.edu	36	5	77508928	77508928	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:77508928C>T	uc003kfj.1	-	c.1031G>A	c.(1030-1032)CGT>CAT	p.R344H		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	344					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)												0.217687	66.113273	76.922372	32	115	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	Missense_Mutation	SNP	77508928	77508928	754	5	C	T	T	19	19	AP3B1	T	1	1
AP3B1	8546	broad.mit.edu	36	5	77626111	77626111	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:77626111C>T	uc003kfj.1	-	c.49G>A	c.(49-51)GCG>ACG	p.A17T		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	17					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)												0.173387	72.163076	97.159734	43	205	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	Missense_Mutation	SNP	77626111	77626111	754	5	C	T	T	26	26	AP3B1	T	2	2
ARSB	411	broad.mit.edu	36	5	78217183	78217183	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78217183G>A	uc003kfq.1	-	c.1122C>T	c.(1120-1122)TTC>TTT	p.F374F	ARSB_uc003kfr.2_Silent_p.F374F	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	374					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity				0		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)				Melanoma(169;563 1968 25780 26156 52266)								0.48503	229.115869	229.145296	81	86	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	Silent	SNP	78217183	78217183	1006	5	G	A	A	37	37	ARSB	A	1	1
ARSB	411	broad.mit.edu	36	5	78217362	78217362	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78217362G>A	uc003kfq.1	-	c.943C>T	c.(943-945)CGA>TGA	p.R315*	ARSB_uc003kfr.2_Nonsense_Mutation_p.R315*	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	315			R -> Q (in MPS6; intermediate form).		lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity				0		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)				Melanoma(169;563 1968 25780 26156 52266)								0.228947	184.422856	209.969077	87	293	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	Nonsense_Mutation	SNP	78217362	78217362	1006	5	G	A	A	37	37	ARSB	A	5	1
ARSB	411	broad.mit.edu	36	5	78300633	78300633	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78300633A>G	uc003kfq.1	-	c.451T>C	c.(451-453)TAC>CAC	p.Y151H	ARSB_uc003kfr.2_Missense_Mutation_p.Y151H	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	151					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity				0		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)				Melanoma(169;563 1968 25780 26156 52266)								0.463115	769.265163	769.835609	226	262	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	Missense_Mutation	SNP	78300633	78300633	1006	5	A	G	G	14	14	ARSB	G	4	4
DMGDH	29958	broad.mit.edu	36	5	78355878	78355878	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78355878C>A	uc003kfs.1	-	c.2222G>T	c.(2221-2223)GGA>GTA	p.G741V		NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	741					choline metabolic process|glycine catabolic process|oxidation-reduction process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)	3		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)												0.160584	33.552696	48.589103	22	115	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	Missense_Mutation	SNP	78355878	78355878	4761	5	C	A	A	30	30	DMGDH	A	3	3
DMGDH	29958	broad.mit.edu	36	5	78364919	78364919	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78364919G>T	uc003kfs.1	-	c.1262C>A	c.(1261-1263)CCT>CAT	p.P421H		NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	421					choline metabolic process|glycine catabolic process|oxidation-reduction process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)	3		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)												0.411003	338.716591	340.866061	127	182	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	Missense_Mutation	SNP	78364919	78364919	4761	5	G	T	T	35	35	DMGDH	T	3	3
DMGDH	29958	broad.mit.edu	36	5	78374025	78374025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78374025G>A	uc003kfs.1	-	c.1030C>T	c.(1030-1032)CGA>TGA	p.R344*		NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	344					choline metabolic process|glycine catabolic process|oxidation-reduction process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)	3		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)												0.216346	92.572314	108.009153	45	163	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	Nonsense_Mutation	SNP	78374025	78374025	4761	5	G	A	A	37	37	DMGDH	A	5	1
BHMT2	23743	broad.mit.edu	36	5	78414821	78414821	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78414821A>C	uc003kft.1	+	c.649A>C	c.(649-651)AAG>CAG	p.K217Q		NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	217	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)			L-Methionine(DB00134)									0.198473	63.292261	74.36481	26	105	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	Missense_Mutation	SNP	78414821	78414821	1451	5	A	C	C	9	9	BHMT2	C	4	4
BHMT	635	broad.mit.edu	36	5	78452917	78452917	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78452917G>A	uc003kfu.2	+	c.598G>A	c.(598-600)GAG>AAG	p.E200K		NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	200	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)			L-Methionine(DB00134)									0.186047	58.387934	74.289769	32	140	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	Missense_Mutation	SNP	78452917	78452917	1450	5	G	A	A	37	37	BHMT	A	1	1
JMY	133746	broad.mit.edu	36	5	78646428	78646428	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78646428G>T	uc003kfv.1	+	c.1829G>T	c.(1828-1830)AGA>ATA	p.R610I	JMY_uc003kfw.1_Missense_Mutation_p.R532I	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	886					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)												0.23913	45.896283	51.620244	22	70	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	Missense_Mutation	SNP	78646428	78646428	8261	5	G	T	T	33	33	JMY	T	3	3
ADCY2	108	broad.mit.edu	36	5	7869988	7869988	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:7869988C>T	uc003jdz.1	+	c.2893C>T	c.(2893-2895)CGG>TGG	p.R965W	ADCY2_uc010itm.1_Missense_Mutation_p.R161W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	965	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6												OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.192982	61.268098	76.326982	33	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7869988	7869988	295	5	C	T	T	27	27	ADCY2	T	1	1
HOMER1	9456	broad.mit.edu	36	5	78707629	78707629	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78707629C>A	uc003kfy.1	-	c.1024G>T	c.(1024-1026)GAA>TAA	p.E342*	HOMER1_uc010jab.1_3'UTR|HOMER1_uc010jac.1_Nonsense_Mutation_p.E212*|HOMER1_uc010jad.1_Nonsense_Mutation_p.E168*	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	342	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)												0.166667	53.001672	74.521871	34	170	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	Nonsense_Mutation	SNP	78707629	78707629	7570	5	C	A	A	32	32	HOMER1	A	5	3
CMYA5	202333	broad.mit.edu	36	5	79061045	79061045	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79061045C>T	uc003kgc.1	+	c.701C>T	c.(700-702)TCG>TTG	p.S234L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	234						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)												0.22	46.59471	53.817214	22	78	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	Missense_Mutation	SNP	79061045	79061045	3728	5	C	T	T	31	31	CMYA5	T	1	1
CMYA5	202333	broad.mit.edu	36	5	79062451	79062451	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79062451C>T	uc003kgc.1	+	c.2107C>T	c.(2107-2109)CCA>TCA	p.P703S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	703						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)												0.201754	48.958305	58.3833	23	91	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	Missense_Mutation	SNP	79062451	79062451	3728	5	C	T	T	30	30	CMYA5	T	2	2
CMYA5	202333	broad.mit.edu	36	5	79064636	79064636	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79064636C>T	uc003kgc.1	+	c.4292C>T	c.(4291-4293)TCC>TTC	p.S1431F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1431						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)												0.4875	113.916604	113.92763	39	41	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	Missense_Mutation	SNP	79064636	79064636	3728	5	C	T	T	30	30	CMYA5	T	2	2
CMYA5	202333	broad.mit.edu	36	5	79067127	79067127	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79067127C>T	uc003kgc.1	+	c.6783C>T	c.(6781-6783)AAC>AAT	p.N2261N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2261						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)												0.187755	85.007482	107.376824	46	199	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	Silent	SNP	79067127	79067127	3728	5	C	T	T	19	19	CMYA5	T	1	1
CMYA5	202333	broad.mit.edu	36	5	79068733	79068733	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79068733C>T	uc003kgc.1	+	c.8389C>T	c.(8389-8391)CGT>TGT	p.R2797C		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2797						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)												0.153846	12.564651	18.524723	8	44	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	Missense_Mutation	SNP	79068733	79068733	3728	5	C	T	T	31	31	CMYA5	T	1	1
CMYA5	202333	broad.mit.edu	36	5	79068922	79068922	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79068922G>A	uc003kgc.1	+	c.8578G>A	c.(8578-8580)GAT>AAT	p.D2860N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2860						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)												0.204545	93.64728	111.47279	45	175	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	Missense_Mutation	SNP	79068922	79068922	3728	5	G	A	A	37	37	CMYA5	A	1	1
CMYA5	202333	broad.mit.edu	36	5	79125054	79125054	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79125054G>A	uc003kgc.1	+	c.11828G>A	c.(11827-11829)GGC>GAC	p.G3943D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3943	B30.2/SPRY.					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)												0.1875	65.58296	83.154179	36	156	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	Missense_Mutation	SNP	79125054	79125054	3728	5	G	A	A	42	42	CMYA5	A	2	2
THBS4	7060	broad.mit.edu	36	5	79399563	79399563	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79399563C>A	uc003kgh.1	+	c.1206C>A	c.(1204-1206)CGC>CGA	p.R402R		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	402	EGF-like 3; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)												0.239316	129.371992	143.899877	56	178	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	Silent	SNP	79399563	79399563	16384	5	C	A	A	28	28	THBS4	A	3	3
THBS4	7060	broad.mit.edu	36	5	79414702	79414702	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79414702C>T	uc003kgh.1	+	c.2868C>T	c.(2866-2868)TTC>TTT	p.F956F		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	956					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)										OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.460123	210.503092	210.728855	75	88	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	Silent	SNP	79414702	79414702	16384	5	C	T	T	31	31	THBS4	T	1	1
SERINC5	256987	broad.mit.edu	36	5	79501091	79501091	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79501091C>T	uc003kgk.2	-	c.586G>A	c.(586-588)GCC>ACC	p.A196T	SERINC5_uc003kgj.2_Missense_Mutation_p.A196T|SERINC5_uc003kgl.2_Non-coding_Transcript|SERINC5_uc003kgm.2_Missense_Mutation_p.A196T	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN	developmentally regulated protein TPO1	196	Extracellular (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)												0.51087	135.121289	135.130685	47	45	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	Missense_Mutation	SNP	79501091	79501091	14571	5	C	T	T	27	27	SERINC5	T	1	1
ZFYVE16	9765	broad.mit.edu	36	5	79768493	79768493	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79768493G>A	uc003kgr.2	+	c.233G>A	c.(232-234)AGT>AAT	p.S78N	ZFYVE16_uc010jak.1_Missense_Mutation_p.S78N|ZFYVE16_uc003kgp.2_Missense_Mutation_p.S78N|ZFYVE16_uc003kgq.2_Missense_Mutation_p.S78N|ZFYVE16_uc003kgs.2_Missense_Mutation_p.S78N	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	78					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity|zinc ion binding				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)				Melanoma(150;1452 1854 16018 17851 37292)								0.24026	89.7913	99.279016	37	117	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	Missense_Mutation	SNP	79768493	79768493	18254	5	G	A	A	36	36	ZFYVE16	A	2	2
DHFR	1719	broad.mit.edu	36	5	79980980	79980980	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79980980G>T	uc003kgx.1	-	c.673C>A	c.(673-675)CTC>ATC	p.L225I	DHFR_uc010jap.1_Non-coding_Transcript|DHFR_uc003kgy.1_Missense_Mutation_p.L76I	NM_000791	NP_000782	P00374	DYR_HUMAN	dihydrofolate reductase	76	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|oxidation-reduction process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)			Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)					302				0.152	28.13453	42.638455	19	106	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Missense_Mutation	SNP	79980980	79980980	4660	5	G	T	T	33	33	DHFR	T	3	3
MSH3	4437	broad.mit.edu	36	5	80119183	80119183	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:80119183C>A	uc003kgz.1	+	c.2479C>A	c.(2479-2481)CAC>AAC	p.H827N		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	827					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			ovary(1)	1		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)				Melanoma(88;1010 1399 13793 26548 36275)				1101				0.189066	150.50159	190.300673	83	356	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	Missense_Mutation	SNP	80119183	80119183	10264	5	C	A	A	29	29	MSH3	A	3	3
MSH3	4437	broad.mit.edu	36	5	80196423	80196423	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:80196423G>A	uc003kgz.1	+	c.3036G>A	c.(3034-3036)CCG>CCA	p.P1012P		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	1012					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			ovary(1)	1		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)				Melanoma(88;1010 1399 13793 26548 36275)				1101				0.212871	88.113812	103.506885	43	159	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	Silent	SNP	80196423	80196423	10264	5	G	A	A	38	38	MSH3	A	1	1
RASGRF2	5924	broad.mit.edu	36	5	80418523	80418523	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:80418523G>A	uc003kha.1	+	c.1385G>A	c.(1384-1386)CGC>CAC	p.R462H	RASGRF2_uc003khb.1_Missense_Mutation_p.R290H	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	462					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)								847				0.397351	160.794202	162.176913	60	91	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	Missense_Mutation	SNP	80418523	80418523	13534	5	G	A	A	38	38	RASGRF2	A	1	1
RASGRF2	5924	broad.mit.edu	36	5	80424397	80424397	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:80424397C>T	uc003kha.1	+	c.1412C>T	c.(1411-1413)TCC>TTC	p.S471F		NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	471	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)								847				0.171521	96.987161	128.504845	53	256	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	Missense_Mutation	SNP	80424397	80424397	13534	5	C	T	T	30	30	RASGRF2	T	2	2
RASGRF2	5924	broad.mit.edu	36	5	80444396	80444396	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:80444396G>A	uc003kha.1	+	c.2050G>A	c.(2050-2052)GAC>AAC	p.D684N		NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	684	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)								847				0.309701	209.608919	218.265596	83	185	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	Missense_Mutation	SNP	80444396	80444396	13534	5	G	A	A	37	37	RASGRF2	A	1	1
RASGRF2	5924	broad.mit.edu	36	5	80547467	80547467	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:80547467A>G	uc003kha.1	+	c.3371A>G	c.(3370-3372)GAC>GGC	p.D1124G		NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	1124	Ras-GEF.|Responsible of the affinity for farnesylated versus geranylgeranylated Ras (By similarity).				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)								847				0.11828	16.760861	30.071747	11	82	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	Missense_Mutation	SNP	80547467	80547467	13534	5	A	G	G	10	10	RASGRF2	G	4	4
CKMT2	1160	broad.mit.edu	36	5	80586765	80586765	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:80586765G>A	uc003khc.2	+	c.645G>A	c.(643-645)GAG>GAA	p.E215E	CKMT2_uc010jaq.1_Silent_p.E215E|CKMT2_uc003khd.2_Silent_p.E215E	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	215	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)			Creatine(DB00148)									0.247525	53.420594	59.284296	25	76	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Silent	SNP	80586765	80586765	3587	5	G	A	A	34	34	CKMT2	A	2	2
ATP6AP1L	92270	broad.mit.edu	36	5	81649866	81649866	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:81649866C>A	uc003khv.1	+	c.666C>A	c.(664-666)ATC>ATA	p.I222I	ATP6AP1L_uc003khw.1_Silent_p.I222I	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	V-type proton ATPase subunit S1-like protein	222					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0														0.401316	158.011966	159.314789	61	91	CC		KEEP	---	---	---	---	capture			Silent	SNP	81649866	81649866	1185	5	C	A	A	32	32	ATP6AP1L	A	3	3
XRCC4	7518	broad.mit.edu	36	5	82436510	82436510	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:82436510A>G	uc003kib.1	+	c.16A>G	c.(16-18)AGC>GGC	p.S6G	XRCC4_uc003kia.1_Missense_Mutation_p.S6G|XRCC4_uc003kid.1_Missense_Mutation_p.S6G|XRCC4_uc003kic.1_Missense_Mutation_p.S6G|XRCC4_uc003kie.1_Missense_Mutation_p.S6G|XRCC4_uc003kif.1_Missense_Mutation_p.S6G	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	6					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(2)	2		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)												0.362869	292.893143	296.811937	86	151	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)	Missense_Mutation	SNP	82436510	82436510	18038	5	A	G	G	3	3	XRCC4	G	4	4
VCAN	1462	broad.mit.edu	36	5	82851259	82851259	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:82851259C>T	uc003kii.2	+	c.1378C>T	c.(1378-1380)CTC>TTC	p.L460F	VCAN_uc003kik.2_Intron|VCAN_uc010jau.1_Missense_Mutation_p.L460F|VCAN_uc003kij.2_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1	460	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)												0.252577	119.073633	129.865576	49	145	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Missense_Mutation	SNP	82851259	82851259	17703	5	C	T	T	28	28	VCAN	T	2	2
VCAN	1462	broad.mit.edu	36	5	82852336	82852336	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:82852336G>T	uc003kii.2	+	c.2455G>T	c.(2455-2457)GAA>TAA	p.E819*	VCAN_uc003kik.2_Intron|VCAN_uc010jau.1_Nonsense_Mutation_p.E819*|VCAN_uc003kij.2_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1	819	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)												0.198312	82.965806	103.077236	47	190	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Nonsense_Mutation	SNP	82852336	82852336	17703	5	G	T	T	33	33	VCAN	T	5	3
VCAN	1462	broad.mit.edu	36	5	82868826	82868826	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:82868826C>T	uc003kii.2	+	c.4248C>T	c.(4246-4248)CTC>CTT	p.L1416L	VCAN_uc003kik.2_Intron|VCAN_uc010jau.1_Intron|VCAN_uc003kij.2_Silent_p.L429L|VCAN_uc003kil.2_Silent_p.L80L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1	1416	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)												0.528455	191.169954	191.255827	65	58	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Silent	SNP	82868826	82868826	17703	5	C	T	T	31	31	VCAN	T	1	1
VCAN	1462	broad.mit.edu	36	5	82870070	82870070	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:82870070T>C	uc003kii.2	+	c.5492T>C	c.(5491-5493)GTC>GCC	p.V1831A	VCAN_uc003kik.2_Intron|VCAN_uc010jau.1_Intron|VCAN_uc003kij.2_Missense_Mutation_p.V844A|VCAN_uc003kil.2_Missense_Mutation_p.V495A	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1	1831	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)												0.475806	586.482906	586.669625	177	195	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Missense_Mutation	SNP	82870070	82870070	17703	5	T	C	C	58	58	VCAN	C	4	4
VCAN	1462	broad.mit.edu	36	5	82871617	82871617	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:82871617G>A	uc003kii.2	+	c.7039G>A	c.(7039-7041)GCA>ACA	p.A2347T	VCAN_uc003kik.2_Intron|VCAN_uc010jau.1_Intron|VCAN_uc003kij.2_Missense_Mutation_p.A1360T|VCAN_uc003kil.2_Missense_Mutation_p.A1011T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1	2347	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)												0.214689	76.945245	90.257824	38	139	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Missense_Mutation	SNP	82871617	82871617	17703	5	G	A	A	42	42	VCAN	A	2	2
HAPLN1	1404	broad.mit.edu	36	5	82976182	82976182	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:82976182C>T	uc003kim.1	-	c.531G>A	c.(529-531)GCG>GCA	p.A177A	HAPLN1_uc003kin.1_Silent_p.A177A	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	177	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)	4		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)								115				0.511628	126.396067	126.406101	44	42	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Silent	SNP	82976182	82976182	7236	5	C	T	T	27	27	HAPLN1	T	1	1
HAPLN1	1404	broad.mit.edu	36	5	82984132	82984132	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:82984132G>T	uc003kim.1	-	c.368C>A	c.(367-369)TCT>TAT	p.S123Y	HAPLN1_uc003kin.1_Missense_Mutation_p.S123Y	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	123	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)	4		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)								115				0.458716	402.847139	403.338898	150	177	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Missense_Mutation	SNP	82984132	82984132	7236	5	G	T	T	33	33	HAPLN1	T	3	3
CCNH	902	broad.mit.edu	36	5	86739732	86739732	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:86739732T>G	uc003kjb.1	-	c.342A>C	c.(340-342)AAA>AAC	p.K114N	CCNH_uc003kiy.1_Non-coding_Transcript|CCNH_uc003kiz.1_Missense_Mutation_p.K61N|CCNH_uc003kja.1_Missense_Mutation_p.K61N	NM_001239	NP_001230	P51946	CCNH_HUMAN	cyclin H	114					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)												0.201031	88.115993	104.235056	39	155	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	Missense_Mutation	SNP	86739732	86739732	3052	5	T	G	G	56	56	CCNH	G	4	4
ZDHHC11	79844	broad.mit.edu	36	5	867893	867893	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:867893C>T	uc003jbi.1	-	c.1164G>A	c.(1162-1164)CCG>CCA	p.P388P	ZDHHC11_uc010itc.1_Non-coding_Transcript|ZDHHC11_uc003jbj.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	388						integral to membrane	acyltransferase activity|zinc ion binding			pancreas(1)	1														0.315436	120.966938	125.48437	47	102	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		Silent	SNP	867893	867893	18189	5	C	T	T	31	31	ZDHHC11	T	1	1
POLR3G	10622	broad.mit.edu	36	5	89827249	89827249	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:89827249G>T	uc003kjq.1	+	c.248_splice	c.e4-1	p.D83_splice		NM_006467	NP_006458			polymerase (RNA) III (DNA directed) polypeptide						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity				0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)												0.188235	28.54227	36.284142	16	69	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)	Splice_Site_SNP	SNP	89827249	89827249	12662	5	G	T	T	33	33	POLR3G	T	5	3
GPR98	84059	broad.mit.edu	36	5	89956807	89956807	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:89956807C>T	uc003kju.1	+	c.663C>T	c.(661-663)CTC>CTT	p.L221L	GPR98_uc003kjt.1_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	221	Calx-beta 2.|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)												0.25641	23.231375	25.330182	10	29	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Silent	SNP	89956807	89956807	6997	5	C	T	T	31	31	GPR98	T	1	1
GPR98	84059	broad.mit.edu	36	5	89961099	89961099	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:89961099A>C	uc003kju.1	+	c.1826A>C	c.(1825-1827)CAC>CCC	p.H609P	GPR98_uc003kjt.1_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	609	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)												0.406452	208.979652	210.168017	63	92	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	89961099	89961099	6997	5	A	C	C	6	6	GPR98	C	4	4
GPR98	84059	broad.mit.edu	36	5	89974288	89974288	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:89974288G>A	uc003kju.1	+	c.2320G>A	c.(2320-2322)GGA>AGA	p.G774R	GPR98_uc003kjt.1_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	774	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)												0.218978	140.165156	160.09376	60	214	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	89974288	89974288	6997	5	G	A	A	43	43	GPR98	A	2	2
GPR98	84059	broad.mit.edu	36	5	89975463	89975463	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:89975463C>A	uc003kju.1	+	c.2641C>A	c.(2641-2643)CTG>ATG	p.L881M	GPR98_uc003kjt.1_De_novo_Start_OutOfFrame	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	881	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)												0.47541	80.364701	80.397158	29	32	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	89975463	89975463	6997	5	C	A	A	32	32	GPR98	A	3	3
GPR98	84059	broad.mit.edu	36	5	89979137	89979137	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:89979137T>C	uc003kju.1	+	c.3089T>C	c.(3088-3090)GTT>GCT	p.V1030A	GPR98_uc003kjt.1_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1030	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)												0.497608	357.40844	357.409396	104	105	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	89979137	89979137	6997	5	T	C	C	60	60	GPR98	C	4	4
GPR98	84059	broad.mit.edu	36	5	90035240	90035240	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90035240G>T	uc003kju.1	+	c.8158G>T	c.(8158-8160)GAA>TAA	p.E2720*	GPR98_uc003kjt.1_Nonsense_Mutation_p.E426*|GPR98_uc003kjv.2_Nonsense_Mutation_p.E320*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2720	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)												0.4	47.93648	48.331258	18	27	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Nonsense_Mutation	SNP	90035240	90035240	6997	5	G	T	T	33	33	GPR98	T	5	3
GPR98	84059	broad.mit.edu	36	5	90160740	90160740	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90160740C>A	uc003kju.1	+	c.16592C>A	c.(16591-16593)TCT>TAT	p.S5531Y	GPR98_uc003kjt.1_Missense_Mutation_p.S3237Y|GPR98_uc003kjw.1_Missense_Mutation_p.S1192Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5531	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)												0.228216	228.059837	260.761423	110	372	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	90160740	90160740	6997	5	C	A	A	32	32	GPR98	A	3	3
GPR98	84059	broad.mit.edu	36	5	90172286	90172286	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90172286C>T	uc003kju.1	+	c.16747C>T	c.(16747-16749)CCA>TCA	p.P5583S	GPR98_uc003kjt.1_Missense_Mutation_p.P3289S|GPR98_uc003kjw.1_Missense_Mutation_p.P1244S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5583	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)												0.191268	179.128358	221.973163	92	389	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	90172286	90172286	6997	5	C	T	T	26	26	GPR98	T	2	2
GPR98	84059	broad.mit.edu	36	5	90180304	90180304	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90180304A>G	uc003kju.1	+	c.17114A>G	c.(17113-17115)GAC>GGC	p.D5705G	GPR98_uc003kjt.1_Missense_Mutation_p.D3411G|GPR98_uc003kjw.1_Missense_Mutation_p.D1366G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5705	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)												0.153153	33.244379	46.143533	17	94	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	90180304	90180304	6997	5	A	G	G	10	10	GPR98	G	4	4
GPR98	84059	broad.mit.edu	36	5	90297027	90297027	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90297027G>A	uc003kju.1	+	c.17896G>A	c.(17896-17898)GCT>ACT	p.A5966T	GPR98_uc003kjt.1_Missense_Mutation_p.A3672T|GPR98_uc003kjw.1_Missense_Mutation_p.A1627T|GPR98_uc003kjx.1_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5966	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)												0.388889	206.822789	208.966132	77	121	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	90297027	90297027	6997	5	G	A	A	38	38	GPR98	A	1	1
GPR98	84059	broad.mit.edu	36	5	90404061	90404061	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90404061C>A	uc003kju.1	+	c.18194C>A	c.(18193-18195)GCT>GAT	p.A6065D	GPR98_uc003kjt.1_Missense_Mutation_p.A3771D|GPR98_uc003kjw.1_Missense_Mutation_p.A1726D|GPR98_uc003kjx.1_Missense_Mutation_p.A93D	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	6065	Helical; (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)												0.222222	131.529576	150.732545	60	210	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	90404061	90404061	6997	5	C	A	A	28	28	GPR98	A	3	3
GPR98	84059	broad.mit.edu	36	5	90433812	90433812	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90433812C>A	uc003kju.1	+	c.18331C>A	c.(18331-18333)CTC>ATC	p.L6111I	GPR98_uc003kjt.1_Missense_Mutation_p.L3817I|GPR98_uc003kjw.1_Missense_Mutation_p.L1772I|GPR98_uc003kjx.1_Missense_Mutation_p.L139I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	6111	Helical; (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)										OREG0016703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.195122	14.572779	18.130538	8	33	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	90433812	90433812	6997	5	C	A	A	32	32	GPR98	A	3	3
ARRDC3	57561	broad.mit.edu	36	5	90705793	90705793	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90705793G>A	uc003kjz.1	-	c.927C>T	c.(925-927)ATC>ATT	p.I309I		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	309					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)												0.460145	364.888324	365.270611	127	149	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	Silent	SNP	90705793	90705793	1002	5	G	A	A	37	37	ARRDC3	A	1	1
SEMA5A	9037	broad.mit.edu	36	5	9207665	9207665	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:9207665G>A	uc003jek.2	-	c.1416C>T	c.(1414-1416)TTC>TTT	p.F472F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A	472	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.178344	96.924681	127.516901	56	258	GG		KEEP	---	---	---	---	capture			Silent	SNP	9207665	9207665	14523	5	G	A	A	37	37	SEMA5A	A	1	1
FAM172A	83989	broad.mit.edu	36	5	93242955	93242955	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:93242955C>A	uc003kkk.1	-	c.763G>T	c.(763-765)GAA>TAA	p.E255*	FAM172A_uc010jbd.1_Nonsense_Mutation_p.E255*|FAM172A_uc003kkm.2_Nonsense_Mutation_p.E255*	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989	255						endoplasmic reticulum|extracellular region					0														0.189873	105.79286	134.243668	60	256	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93242955	93242955	5698	5	C	A	A	32	32	FAM172A	A	5	3
MCTP1	79772	broad.mit.edu	36	5	94229848	94229848	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94229848G>A	uc003kkx.1	-	c.2382C>T	c.(2380-2382)TAC>TAT	p.Y794Y	MCTP1_uc003kkv.1_Silent_p.Y573Y|MCTP1_uc003kkw.1_Silent_p.Y527Y|MCTP1_uc003kkz.1_Silent_p.Y455Y|MCTP1_uc003kku.1_Silent_p.Y310Y	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	794					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)												0.206612	49.307154	58.964536	25	96	GG		KEEP	---	---	---	---	capture		all cancers(79;9.1e-17)	Silent	SNP	94229848	94229848	9789	5	G	A	A	40	40	MCTP1	A	1	1
MCTP1	79772	broad.mit.edu	36	5	94232820	94232820	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94232820G>A	uc003kkx.1	-	c.2095C>T	c.(2095-2097)CGA>TGA	p.R699*	MCTP1_uc003kkv.1_Nonsense_Mutation_p.R478*|MCTP1_uc003kkw.1_Nonsense_Mutation_p.R432*|MCTP1_uc003kkz.1_Nonsense_Mutation_p.R360*|MCTP1_uc003kku.1_Nonsense_Mutation_p.R215*	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	699	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)												0.419355	185.144495	186.024995	65	90	GG		KEEP	---	---	---	---	capture		all cancers(79;9.1e-17)	Nonsense_Mutation	SNP	94232820	94232820	9789	5	G	A	A	37	37	MCTP1	A	5	1
SEMA5A	9037	broad.mit.edu	36	5	9432997	9432997	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:9432997T>C	uc003jek.2	-	c.62A>G	c.(61-63)CAC>CGC	p.H21R		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A	21					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.230284	150.098968	171.294524	73	244	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9432997	9432997	14523	5	T	C	C	59	59	SEMA5A	C	4	4
FAM81B	153643	broad.mit.edu	36	5	94752963	94752963	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94752963C>A	uc003kla.1	+	c.114C>A	c.(112-114)ATC>ATA	p.I38I	FAM81B_uc010jbe.1_5'Flank	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	38										ovary(1)	1		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)												0.252381	118.057652	129.7658	53	157	CC		KEEP	---	---	---	---	capture		all cancers(79;1.04e-16)	Silent	SNP	94752963	94752963	5855	5	C	A	A	29	29	FAM81B	A	3	3
FAM81B	153643	broad.mit.edu	36	5	94775481	94775481	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94775481G>A	uc003kla.1	+	c.368G>A	c.(367-369)CGT>CAT	p.R123H	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	123										ovary(1)	1		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)												0.186275	69.23022	88.04958	38	166	GG		KEEP	---	---	---	---	capture		all cancers(79;1.04e-16)	Missense_Mutation	SNP	94775481	94775481	5855	5	G	A	A	40	40	FAM81B	A	1	1
FAM81B	153643	broad.mit.edu	36	5	94808053	94808053	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94808053G>T	uc003kla.1	+	c.925G>T	c.(925-927)GAA>TAA	p.E309*	FAM81B_uc010jbe.1_Nonsense_Mutation_p.E105*	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	309										ovary(1)	1		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)												0.168539	24.262632	33.531305	15	74	GG		KEEP	---	---	---	---	capture		all cancers(79;1.04e-16)	Nonsense_Mutation	SNP	94808053	94808053	5855	5	G	T	T	33	33	FAM81B	T	5	3
TTC37	9652	broad.mit.edu	36	5	94846201	94846201	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94846201C>T	uc003klb.1	-	c.4036G>A	c.(4036-4038)GAA>AAA	p.E1346K		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1346	TPR 19.						binding			ovary(3)|pancreas(1)	4														0.157303	42.374056	62.331757	28	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94846201	94846201	17260	5	C	T	T	29	29	TTC37	T	2	2
TTC37	9652	broad.mit.edu	36	5	94871097	94871097	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94871097C>T	uc003klb.1	-	c.2971G>A	c.(2971-2973)GAA>AAA	p.E991K		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	991	TPR 16.						binding			ovary(3)|pancreas(1)	4														0.389381	121.080044	122.289031	44	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94871097	94871097	17260	5	C	T	T	31	31	TTC37	T	1	1
TTC37	9652	broad.mit.edu	36	5	94886881	94886881	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94886881C>A	uc003klb.1	-	c.1302G>T	c.(1300-1302)AAG>AAT	p.K434N	TTC37_uc010jbf.1_Missense_Mutation_p.K386N	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	434	TPR 6.						binding			ovary(3)|pancreas(1)	4														0.398374	267.981155	270.208874	98	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94886881	94886881	17260	5	C	A	A	24	24	TTC37	A	3	3
ARSK	153642	broad.mit.edu	36	5	94964811	94964811	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94964811C>A	uc003kld.1	+	c.1436C>A	c.(1435-1437)TCT>TAT	p.S479Y	ARSK_uc010jbg.1_Missense_Mutation_p.S320Y	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K	479						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)												0.247619	56.791701	62.883636	26	79	CC		KEEP	---	---	---	---	capture		all cancers(79;6.5e-16)	Missense_Mutation	SNP	94964811	94964811	1014	5	C	A	A	32	32	ARSK	A	3	3
SPATA9	83890	broad.mit.edu	36	5	95037085	95037085	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95037085C>T	uc003klj.1	-	c.165G>A	c.(163-165)GCG>GCA	p.A55A	SPATA9_uc010jbh.1_Non-coding_Transcript|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	55					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)												0.279221	104.260457	111.011255	43	111	CC		KEEP	---	---	---	---	capture		all cancers(79;8.91e-16)	Silent	SNP	95037085	95037085	15526	5	C	T	T	27	27	SPATA9	T	1	1
SPATA9	83890	broad.mit.edu	36	5	95044292	95044292	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95044292C>T	uc003klj.1	-	c.23G>A	c.(22-24)TGG>TAG	p.W8*	SPATA9_uc010jbh.1_Non-coding_Transcript|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Non-coding_Transcript	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	8					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)												0.410891	244.580748	245.983097	83	119	CC		KEEP	---	---	---	---	capture		all cancers(79;8.91e-16)	Nonsense_Mutation	SNP	95044292	95044292	15526	5	C	T	T	21	21	SPATA9	T	5	2
RHOBTB3	22836	broad.mit.edu	36	5	95116989	95116989	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95116989C>A	uc003klm.1	+	c.816C>A	c.(814-816)ATC>ATA	p.I272I	RHOBTB3_uc003klk.1_Silent_p.I66I	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	272	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)	1		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)												0.320755	237.289297	244.848633	85	180	CC		KEEP	---	---	---	---	capture		all cancers(79;8.79e-16)	Silent	SNP	95116989	95116989	13810	5	C	A	A	31	31	RHOBTB3	A	3	3
RHOBTB3	22836	broad.mit.edu	36	5	95117206	95117206	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95117206C>T	uc003klm.1	+	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	RHOBTB3_uc003klk.1_Missense_Mutation_p.R139C	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	345	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)	1		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)												0.169713	115.4543	154.985391	65	318	CC		KEEP	---	---	---	---	capture		all cancers(79;8.79e-16)	Missense_Mutation	SNP	95117206	95117206	13810	5	C	T	T	31	31	RHOBTB3	T	1	1
RHOBTB3	22836	broad.mit.edu	36	5	95129617	95129617	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95129617G>A	uc003klm.1	+	c.1273G>A	c.(1273-1275)GAA>AAA	p.E425K		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	425	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)	1		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)												0.228013	155.583673	176.428597	70	237	GG		KEEP	---	---	---	---	capture		all cancers(79;8.79e-16)	Missense_Mutation	SNP	95129617	95129617	13810	5	G	A	A	37	37	RHOBTB3	A	1	1
GLRX	2745	broad.mit.edu	36	5	95178076	95178076	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95178076A>G	uc003klo.2	-	c.218T>C	c.(217-219)GTC>GCC	p.V73A	GLRX_uc003kln.2_Missense_Mutation_p.V73A	NM_001118890	NP_001112362	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	73	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding				0		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)			Glutathione(DB00143)									0.430657	188.190788	188.766676	59	78	AA		KEEP	---	---	---	---	capture		all cancers(79;2.62e-16)	Missense_Mutation	SNP	95178076	95178076	6727	5	A	G	G	10	10	GLRX	G	4	4
GLRX	2745	broad.mit.edu	36	5	95184099	95184099	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95184099G>A	uc003klo.2	-	c.24C>T	c.(22-24)TGC>TGT	p.C8C	GLRX_uc003kln.2_Silent_p.C8C	NM_001118890	NP_001112362	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	8	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding				0		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)			Glutathione(DB00143)									0.133333	12.830195	24.588651	12	78	GG		KEEP	---	---	---	---	capture		all cancers(79;2.62e-16)	Silent	SNP	95184099	95184099	6727	5	G	A	A	46	46	GLRX	A	2	2
ELL2	22936	broad.mit.edu	36	5	95250403	95250403	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95250403A>C	uc003klr.2	-	c.1851T>G	c.(1849-1851)CTT>CTG	p.L617L		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	617					transcription elongation from RNA polymerase II promoter	transcription elongation factor complex	RNA polymerase II transcription elongation factor activity|RNA polymerase II transcription factor activity				0		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)												0.467213	195.072229	195.185641	57	65	AA		KEEP	---	---	---	---	capture		all cancers(79;2.16e-15)	Silent	SNP	95250403	95250403	5255	5	A	C	C	9	9	ELL2	C	4	4
ELL2	22936	broad.mit.edu	36	5	95252716	95252716	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95252716G>A	uc003klr.2	-	c.1608C>T	c.(1606-1608)GTC>GTT	p.V536V		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	536					transcription elongation from RNA polymerase II promoter	transcription elongation factor complex	RNA polymerase II transcription elongation factor activity|RNA polymerase II transcription factor activity				0		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)												0.471483	357.863061	358.050358	124	139	GG		KEEP	---	---	---	---	capture		all cancers(79;2.16e-15)	Silent	SNP	95252716	95252716	5255	5	G	A	A	33	33	ELL2	A	2	2
ELL2	22936	broad.mit.edu	36	5	95260267	95260267	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95260267G>A	uc003klr.2	-	c.958C>T	c.(958-960)CGG>TGG	p.R320W		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	320					transcription elongation from RNA polymerase II promoter	transcription elongation factor complex	RNA polymerase II transcription elongation factor activity|RNA polymerase II transcription factor activity				0		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)												0.407407	285.056439	287.087949	110	160	GG		KEEP	---	---	---	---	capture		all cancers(79;2.16e-15)	Missense_Mutation	SNP	95260267	95260267	5255	5	G	A	A	40	40	ELL2	A	1	1
PCSK1	5122	broad.mit.edu	36	5	95761627	95761627	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95761627C>T	uc003kls.1	-	c.1216G>A	c.(1216-1218)GAT>AAT	p.D406N	PCSK1_uc010jbi.1_Missense_Mutation_p.D96N	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	406	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)			Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.208122	93.14602	108.712572	41	156	CC		KEEP	---	---	---	---	capture		all cancers(79;3.44e-16)	Missense_Mutation	SNP	95761627	95761627	12020	5	C	T	T	32	32	PCSK1	T	2	2
CAST	831	broad.mit.edu	36	5	96104211	96104211	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96104211G>A	uc003klu.1	+	c.1195G>A	c.(1195-1197)GAT>AAT	p.D399N	CAST_uc003klt.1_Missense_Mutation_p.D303N|CAST_uc003klv.1_Missense_Mutation_p.D377N|CAST_uc003klw.1_Missense_Mutation_p.D380N|CAST_uc003klx.1_Missense_Mutation_p.D358N|CAST_uc003kly.1_Missense_Mutation_p.D364N|CAST_uc003klz.1_Missense_Mutation_p.D316N|CAST_uc003kma.1_Missense_Mutation_p.D275N|CAST_uc003kmb.1_Missense_Mutation_p.D262N|CAST_uc003kmc.1_Missense_Mutation_p.D316N|CAST_uc003kmd.1_Missense_Mutation_p.D294N|CAST_uc003kme.1_Missense_Mutation_p.D275N|CAST_uc003kmf.1_Missense_Mutation_p.D281N|CAST_uc003kmg.1_Missense_Mutation_p.D198N|CAST_uc003kmh.1_Missense_Mutation_p.D31N|CAST_uc010jbj.1_Missense_Mutation_p.D31N|CAST_uc010jbk.1_Missense_Mutation_p.D31N|CAST_uc010jbl.1_5'Flank|CAST_uc003kmi.2_5'Flank|CAST_uc003kmj.1_5'Flank	NM_001750	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform a	316	Inhibitory domain 2.						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)												0.2	32.15052	38.851217	16	64	GG		KEEP	---	---	---	---	capture		all cancers(79;6.85e-15)	Missense_Mutation	SNP	96104211	96104211	2803	5	G	A	A	37	37	CAST	A	1	1
ERAP1	51752	broad.mit.edu	36	5	96149997	96149997	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96149997C>T	uc003kml.1	-	c.1672G>A	c.(1672-1674)GAC>AAC	p.D558N	ERAP1_uc010jbm.1_Missense_Mutation_p.D370N|ERAP1_uc003kmm.1_Missense_Mutation_p.D558N|ERAP1_uc003kmn.1_Missense_Mutation_p.D558N	NM_016442	NP_057526	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	558	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)												0.342857	125.247607	128.306253	48	92	CC		KEEP	---	---	---	---	capture		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	Missense_Mutation	SNP	96149997	96149997	5396	5	C	T	T	30	30	ERAP1	T	2	2
ERAP2	64167	broad.mit.edu	36	5	96241437	96241437	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96241437G>A	uc003kmt.1	+	c.292G>A	c.(292-294)GAA>AAA	p.E98K	ERAP2_uc003kmp.1_Missense_Mutation_p.E92K|ERAP2_uc003kmq.1_Missense_Mutation_p.E92K|ERAP2_uc003kmr.1_Non-coding_Transcript|ERAP2_uc003kms.1_Missense_Mutation_p.E92K|ERAP2_uc003kmu.1_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	98	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)												0.201681	48.730775	58.57534	24	95	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0703)	Missense_Mutation	SNP	96241437	96241437	5397	5	G	A	A	37	37	ERAP2	A	1	1
ERAP2	64167	broad.mit.edu	36	5	96253830	96253830	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96253830T>C	uc003kmt.1	+	c.1042T>C	c.(1042-1044)TCA>CCA	p.S348P	ERAP2_uc003kmp.1_Missense_Mutation_p.S342P|ERAP2_uc003kmq.1_Missense_Mutation_p.S342P|ERAP2_uc003kmr.1_Non-coding_Transcript|ERAP2_uc003kms.1_Missense_Mutation_p.S297P|ERAP2_uc003kmu.1_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	348	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)												0.229665	129.708285	143.698567	48	161	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0703)	Missense_Mutation	SNP	96253830	96253830	5397	5	T	C	C	58	58	ERAP2	C	4	4
ERAP2	64167	broad.mit.edu	36	5	96257894	96257894	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96257894G>A	uc003kmt.1	+	c.1301G>A	c.(1300-1302)CGC>CAC	p.R434H	ERAP2_uc003kmp.1_Missense_Mutation_p.R428H|ERAP2_uc003kmq.1_Missense_Mutation_p.R428H|ERAP2_uc003kmr.1_Non-coding_Transcript|ERAP2_uc003kms.1_Missense_Mutation_p.R383H|ERAP2_uc003kmu.1_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	434	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)												0.534351	194.706722	194.837944	70	61	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0703)	Missense_Mutation	SNP	96257894	96257894	5397	5	G	A	A	38	38	ERAP2	A	1	1
ERAP2	64167	broad.mit.edu	36	5	96279059	96279059	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96279059T>A	uc003kmt.1	+	c.2877T>A	c.(2875-2877)AAT>AAA	p.N959K	ERAP2_uc003kmq.1_Missense_Mutation_p.N953K|ERAP2_uc003kmr.1_Non-coding_Transcript|ERAP2_uc003kms.1_Missense_Mutation_p.N908K|ERAP2_uc003kmu.1_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	959	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)												0.230769	46.738622	52.77666	21	70	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0703)	Missense_Mutation	SNP	96279059	96279059	5397	5	T	A	A	49	49	ERAP2	A	4	4
LNPEP	4012	broad.mit.edu	36	5	96355354	96355354	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96355354C>A	uc003kmv.1	+	c.1330C>A	c.(1330-1332)CTG>ATG	p.L444M	LNPEP_uc003kmw.1_Missense_Mutation_p.L430M	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	444	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)												0.223048	120.339094	139.334822	60	209	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.072)	Missense_Mutation	SNP	96355354	96355354	9193	5	C	A	A	32	32	LNPEP	A	3	3
LNPEP	4012	broad.mit.edu	36	5	96355432	96355432	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96355432G>A	uc003kmv.1	+	c.1407_splice	c.e6+1	p.Q469_splice	LNPEP_uc003kmw.1_Splice_Site_SNP_p.Q455_splice	NM_005575	NP_787116			leucyl/cystinyl aminopeptidase isoform 1						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)												0.457895	244.217784	244.508446	87	103	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.072)	Splice_Site_SNP	SNP	96355432	96355432	9193	5	G	A	A	44	44	LNPEP	A	5	2
LIX1	167410	broad.mit.edu	36	5	96456329	96456329	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96456329C>T	uc003kmy.2	-	c.728G>A	c.(727-729)CGG>CAG	p.R243Q		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	limb expression 1	243										ovary(1)	1		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)												0.143426	55.930973	86.677539	36	215	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0733)	Missense_Mutation	SNP	96456329	96456329	9160	5	C	T	T	23	23	LIX1	T	1	1
TAS2R1	50834	broad.mit.edu	36	5	9682272	9682272	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:9682272G>A	uc003jem.1	-	c.873C>T	c.(871-873)TTC>TTT	p.F291F		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	291	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3														0.183206	90.828397	115.526671	48	214	GG		KEEP	---	---	---	---	capture			Silent	SNP	9682272	9682272	16087	5	G	A	A	41	41	TAS2R1	A	2	2
CHD1	1105	broad.mit.edu	36	5	98227073	98227073	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:98227073C>A	uc003knf.1	-	c.4366G>T	c.(4366-4368)GAC>TAC	p.D1456Y	CHD1_uc010jbn.1_Missense_Mutation_p.D182Y	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1456					chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)			Epirubicin(DB00445)					1887				0.261682	62.239264	67.748135	28	79	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0717)	Missense_Mutation	SNP	98227073	98227073	3457	5	C	A	A	32	32	CHD1	A	3	3
CHD1	1105	broad.mit.edu	36	5	98233429	98233429	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:98233429T>G	uc003knf.1	-	c.4036A>C	c.(4036-4038)AAA>CAA	p.K1346Q	CHD1_uc010jbn.1_Missense_Mutation_p.K72Q	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1346					chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)			Epirubicin(DB00445)					1887				0.232323	63.280366	69.770936	23	76	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0717)	Missense_Mutation	SNP	98233429	98233429	3457	5	T	G	G	64	64	CHD1	G	4	4
CHD1	1105	broad.mit.edu	36	5	98237202	98237202	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:98237202C>T	uc003knf.1	-	c.3566G>A	c.(3565-3567)CGA>CAA	p.R1189Q	CHD1_uc010jbn.1_5'UTR	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1189					chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)			Epirubicin(DB00445)					1887				0.315315	91.179953	94.550723	35	76	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0717)	Missense_Mutation	SNP	98237202	98237202	3457	5	C	T	T	31	31	CHD1	T	1	1
CHD1	1105	broad.mit.edu	36	5	98246743	98246743	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:98246743C>A	uc003knf.1	-	c.2667G>T	c.(2665-2667)CAG>CAT	p.Q889H		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	889	Helicase C-terminal.				chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)			Epirubicin(DB00445)					1887				0.232558	41.148369	46.788211	20	66	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0717)	Missense_Mutation	SNP	98246743	98246743	3457	5	C	A	A	32	32	CHD1	A	3	3
CHD1	1105	broad.mit.edu	36	5	98258254	98258254	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:98258254G>A	uc003knf.1	-	c.1747C>T	c.(1747-1749)CGG>TGG	p.R583W		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	583	Helicase ATP-binding.				chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)			Epirubicin(DB00445)					1887				0.194444	13.80381	16.939963	7	29	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0717)	Missense_Mutation	SNP	98258254	98258254	3457	5	G	A	A	40	40	CHD1	A	1	1
CHD1	1105	broad.mit.edu	36	5	98260806	98260806	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:98260806G>T	uc003knf.1	-	c.1484C>A	c.(1483-1485)TCT>TAT	p.S495Y		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	495	Helicase ATP-binding.				chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)			Epirubicin(DB00445)					1887				0.261628	99.586887	108.441053	45	127	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0717)	Missense_Mutation	SNP	98260806	98260806	3457	5	G	T	T	33	33	CHD1	T	3	3
PRDM13	59336	broad.mit.edu	36	6	100169051	100169051	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:100169051C>A	uc003pqg.1	+	c.1819C>A	c.(1819-1821)CTG>ATG	p.L607M		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	607	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)												0.275	49.305664	52.960474	22	58	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0598)	Missense_Mutation	SNP	100169051	100169051	12896	6	C	A	A	32	32	PRDM13	A	3	3
SIM1	6492	broad.mit.edu	36	6	100945271	100945271	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:100945271G>A	uc003pqj.2	-	c.1988C>T	c.(1987-1989)TCG>TTG	p.S663L	SIM1_uc010kct.1_Missense_Mutation_p.S663L|SIM1_uc010kcu.1_Missense_Mutation_p.S663L	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	663	Single-minded C-terminal.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	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)												0.253425	172.512677	188.630322	74	218	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0774)	Missense_Mutation	SNP	100945271	100945271	14818	6	G	A	A	37	37	SIM1	A	1	1
SIM1	6492	broad.mit.edu	36	6	100948106	100948106	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:100948106G>A	uc003pqj.2	-	c.1548C>T	c.(1546-1548)ATC>ATT	p.I516I	SIM1_uc010kct.1_Silent_p.I516I|SIM1_uc010kcu.1_Silent_p.I516I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	516	Single-minded C-terminal.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	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)												0.218009	98.142363	113.606563	46	165	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0774)	Silent	SNP	100948106	100948106	14818	6	G	A	A	37	37	SIM1	A	1	1
ASCC3	10973	broad.mit.edu	36	6	101067421	101067421	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:101067421G>T	uc003pqk.1	-	c.6170C>A	c.(6169-6171)TCT>TAT	p.S2057Y		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	2057					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)	5		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)												0.638418	319.072567	322.045518	113	64	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	Missense_Mutation	SNP	101067421	101067421	1051	6	G	T	T	33	33	ASCC3	T	3	3
ASCC3	10973	broad.mit.edu	36	6	101182255	101182255	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:101182255T>C	uc003pqk.1	-	c.4574A>G	c.(4573-4575)CAC>CGC	p.H1525R		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)	5		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)												0.296703	67.341789	70.738791	27	64	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	Missense_Mutation	SNP	101182255	101182255	1051	6	T	C	C	59	59	ASCC3	C	4	4
GRIK2	2898	broad.mit.edu	36	6	102237147	102237147	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:102237147A>C	uc003pqp.2	+	c.750A>C	c.(748-750)GAA>GAC	p.E250D	GRIK2_uc003pqn.2_Missense_Mutation_p.E250D|GRIK2_uc003pqo.2_Missense_Mutation_p.E250D|GRIK2_uc010kcw.1_Missense_Mutation_p.E250D	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	250	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)|breast(1)|pancreas(1)	4		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)			L-Glutamic Acid(DB00142)									0.330275	113.068135	115.848355	36	73	AA		KEEP	---	---	---	---	capture		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Missense_Mutation	SNP	102237147	102237147	7053	6	A	C	C	4	4	GRIK2	C	4	4
GRIK2	2898	broad.mit.edu	36	6	102483143	102483143	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:102483143A>G	uc003pqp.2	+	c.2028A>G	c.(2026-2028)AAA>AAG	p.K676K	GRIK2_uc003pqo.2_Silent_p.K676K|GRIK2_uc010kcw.1_Silent_p.K676K	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	676	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)|breast(1)|pancreas(1)	4		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)			L-Glutamic Acid(DB00142)									0.266667	58.67065	62.355956	20	55	AA		KEEP	---	---	---	---	capture		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Silent	SNP	102483143	102483143	7053	6	A	G	G	2	2	GRIK2	G	4	4
TFAP2A	7020	broad.mit.edu	36	6	10510826	10510826	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:10510826C>T	uc003myr.1	-	c.768G>A	c.(766-768)GCG>GCA	p.A256A	TFAP2A_uc003myq.1_Silent_p.A250A|TFAP2A_uc003mys.1_Non-coding_Transcript|TFAP2A_uc003myt.1_Silent_p.A252A|TFAP2A_uc003myu.1_Silent_p.A256A	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	256					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)												0.54023	138.424186	138.546074	47	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	10510826	10510826	16315	6	C	T	T	31	31	TFAP2A	T	1	1
TFAP2A	7020	broad.mit.edu	36	6	10518389	10518389	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:10518389C>A	uc003myr.1	-	c.211G>T	c.(211-213)GAT>TAT	p.D71Y	TFAP2A_uc003myq.1_Missense_Mutation_p.D65Y|TFAP2A_uc003mys.1_Intron|TFAP2A_uc003myt.1_Missense_Mutation_p.D67Y|TFAP2A_uc003myu.1_Missense_Mutation_p.D71Y|TFAP2A_uc003myv.1_Missense_Mutation_p.D57Y	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	71	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)												0.256757	82.774964	90.720673	38	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10518389	10518389	16315	6	C	A	A	32	32	TFAP2A	A	3	3
HACE1	57531	broad.mit.edu	36	6	105339778	105339778	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:105339778T>C	uc003pqu.1	-	c.1184A>G	c.(1183-1185)CAA>CGA	p.Q395R	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.Q395R|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.Q48R	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	395					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(1)	6		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)												0.333333	110.990881	113.866714	39	78	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	Missense_Mutation	SNP	105339778	105339778	7222	6	T	C	C	63	63	HACE1	C	4	4
PREP	5550	broad.mit.edu	36	6	105878283	105878283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:105878283G>A	uc003prc.1	-	c.1267C>T	c.(1267-1269)CGA>TGA	p.R423*		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	423					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)									0.277778	130.775297	138.771958	50	130	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	105878283	105878283	12917	6	G	A	A	39	39	PREP	A	5	1
PRDM1	639	broad.mit.edu	36	6	106660045	106660045	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:106660045C>A	uc003prd.2	+	c.1209C>A	c.(1207-1209)CTC>CTA	p.L403L	PRDM1_uc003pre.2_Silent_p.L305L	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	439					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)												0.257576	70.375017	77.418232	34	98	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	106660045	106660045	12892	6	C	A	A	32	32	PRDM1	A	3	3
PRDM1	639	broad.mit.edu	36	6	106661767	106661767	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:106661767G>A	uc003prd.2	+	c.2083G>A	c.(2083-2085)GAG>AAG	p.E695K	PRDM1_uc003pre.2_Missense_Mutation_p.E597K	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	731					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)												0.59719	759.5185	763.034704	255	172	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	106661767	106661767	12892	6	G	A	A	37	37	PRDM1	A	1	1
AIM1	202	broad.mit.edu	36	6	107113090	107113090	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:107113090G>T	uc003prh.1	+	c.4528G>T	c.(4528-4530)GAA>TAA	p.E1510*	AIM1_uc003pri.1_Nonsense_Mutation_p.E314*	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1510	Beta/gamma crystallin 'Greek key' 11.						sugar binding			breast(4)|ovary(2)|large_intestine(1)	7	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)								659				0.3125	47.669673	49.676791	20	44	GG		KEEP	---	---	---	---	capture	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	Nonsense_Mutation	SNP	107113090	107113090	433	6	G	T	T	33	33	AIM1	T	5	3
RTN4IP1	84816	broad.mit.edu	36	6	107142397	107142397	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:107142397G>T	uc003prj.1	-	c.840C>A	c.(838-840)TCC>TCA	p.S280S	RTN4IP1_uc010kdd.1_Intron|RTN4IP1_uc003prk.1_Silent_p.S180S	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	280					oxidation-reduction process	mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)												0.25	36.466351	40.104949	16	48	GG		KEEP	---	---	---	---	capture	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	Silent	SNP	107142397	107142397	14209	6	G	T	T	47	47	RTN4IP1	T	3	3
RTN4IP1	84816	broad.mit.edu	36	6	107183568	107183568	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:107183568C>T	uc003prj.1	-	c.22G>A	c.(22-24)GTA>ATA	p.V8I	QRSL1_uc003prm.1_5'Flank|RTN4IP1_uc010kdd.1_Missense_Mutation_p.V8I|RTN4IP1_uc003prk.1_Intron|QRSL1_uc003prl.1_5'Flank	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	8					oxidation-reduction process	mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)												0.251969	69.125796	76.234699	32	95	CC		KEEP	---	---	---	---	capture	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	Missense_Mutation	SNP	107183568	107183568	14209	6	C	T	T	17	17	RTN4IP1	T	2	2
BEND3	57673	broad.mit.edu	36	6	107496927	107496927	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:107496927G>A	uc003prs.1	-	c.2161C>T	c.(2161-2163)CTG>TTG	p.L721L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	721	BEN 4.									ovary(3)	3														0.349398	157.294339	160.619028	58	108	GG		KEEP	---	---	---	---	capture			Silent	SNP	107496927	107496927	1422	6	G	A	A	34	34	BEND3	A	2	2
SEC63	11231	broad.mit.edu	36	6	108357395	108357395	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:108357395C>A	uc003psc.2	-	c.141G>T	c.(139-141)AAG>AAT	p.K47N		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	47	Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)												0.352201	143.63903	146.708	56	103	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	Missense_Mutation	SNP	108357395	108357395	14491	6	C	A	A	32	32	SEC63	A	3	3
OSTM1	28962	broad.mit.edu	36	6	108477288	108477288	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:108477288G>A	uc003psd.1	-	c.811C>T	c.(811-813)CGA>TGA	p.R271*		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein	271	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)				Melanoma(162;1427 1909 3096 17430 21396)								0.312102	125.038764	129.962821	49	108	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)	Nonsense_Mutation	SNP	108477288	108477288	11710	6	G	A	A	37	37	OSTM1	A	5	1
OSTM1	28962	broad.mit.edu	36	6	108502290	108502290	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:108502290G>A	uc003psd.1	-	c.259C>T	c.(259-261)CTC>TTC	p.L87F		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein	87	Extracellular (Potential).			L -> P (in Ref. 3; BAC11351).		integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)				Melanoma(162;1427 1909 3096 17430 21396)								0.333333	15.049668	15.489655	6	12	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)	Missense_Mutation	SNP	108502290	108502290	11710	6	G	A	A	34	34	OSTM1	A	2	2
NR2E1	7101	broad.mit.edu	36	6	108604461	108604461	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:108604461C>T	uc003psg.1	+	c.321C>T	c.(319-321)TTC>TTT	p.F107F		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	107					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)	1		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)												0.565789	127.833053	128.120744	43	33	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	Silent	SNP	108604461	108604461	11030	6	C	T	T	30	30	NR2E1	T	2	2
LACE1	246269	broad.mit.edu	36	6	108774938	108774938	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:108774938T>C	uc003psj.1	+	c.415_splice	c.e3+2	p.G139_splice		NM_145315	NP_660358			lactation elevated 1								ATP binding			central_nervous_system(1)	1		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)												0.528571	261.26892	261.36942	74	66	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	Splice_Site_SNP	SNP	108774938	108774938	8918	6	T	C	C	57	57	LACE1	C	5	4
MAK	4117	broad.mit.edu	36	6	10912084	10912084	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:10912084C>A	uc003mzl.1	-	c.518G>T	c.(517-519)AGA>ATA	p.R173I	TMEM14B_uc010jos.1_Intron|MAK_uc010jot.1_Non-coding_Transcript|MAK_uc010jou.1_Non-coding_Transcript|MAK_uc003mzm.1_Missense_Mutation_p.R173I|MAK_uc010jov.1_Non-coding_Transcript	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	173	Protein kinase.				cell differentiation|multicellular organismal development|protein phosphorylation|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)	2	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)								277				0.313253	127.222663	132.385136	52	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10912084	10912084	9580	6	C	A	A	32	32	MAK	A	3	3
ARMC2	84071	broad.mit.edu	36	6	109364889	109364889	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:109364889G>T	uc003pss.2	+	c.1590G>T	c.(1588-1590)AAG>AAT	p.K530N		NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	530	ARM 6.						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)												0.4	13.62175	13.759399	6	9	GG		KEEP	---	---	---	---	capture		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	Missense_Mutation	SNP	109364889	109364889	969	6	G	T	T	33	33	ARMC2	T	3	3
SESN1	27244	broad.mit.edu	36	6	109416540	109416540	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:109416540G>A	uc003psu.1	-	c.1468C>T	c.(1468-1470)CGT>TGT	p.R490C	SESN1_uc003pst.2_Missense_Mutation_p.R431C	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN	sestrin 1	431					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)												0.25	34.396589	37.805653	15	45	GG		KEEP	---	---	---	---	capture		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	Missense_Mutation	SNP	109416540	109416540	14612	6	G	A	A	37	37	SESN1	A	1	1
MICAL1	64780	broad.mit.edu	36	6	109873352	109873352	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:109873352C>T	uc003ptj.1	-	c.2747G>A	c.(2746-2748)CGT>CAT	p.R916H	MICAL1_uc003ptk.1_Missense_Mutation_p.R916H|MICAL1_uc010kdr.1_Missense_Mutation_p.R830H	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	916					cytoskeleton organization|oxidation-reduction process|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)												0.241071	119.937527	133.642298	54	170	CC		KEEP	---	---	---	---	capture		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	Missense_Mutation	SNP	109873352	109873352	9959	6	C	T	T	19	19	MICAL1	T	1	1
ZBTB24	9841	broad.mit.edu	36	6	109904117	109904117	+	Nonsense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:109904117A>C	uc003ptl.1	-	c.1158T>G	c.(1156-1158)TAT>TAG	p.Y386*	ZBTB24_uc010kds.1_Nonsense_Mutation_p.Y330*|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	386	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)												0.299435	156.511234	162.870988	53	124	AA		KEEP	---	---	---	---	capture		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	Nonsense_Mutation	SNP	109904117	109904117	18117	6	A	C	C	4	4	ZBTB24	C	5	4
ZBTB24	9841	broad.mit.edu	36	6	109909456	109909456	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:109909456T>C	uc003ptl.1	-	c.467A>G	c.(466-468)GAT>GGT	p.D156G	ZBTB24_uc010kds.1_Missense_Mutation_p.D156G|ZBTB24_uc010kdt.1_Non-coding_Transcript|ZBTB24_uc003ptm.2_Missense_Mutation_p.D156G	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)												0.224377	215.993894	241.198081	81	280	TT		KEEP	---	---	---	---	capture		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	Missense_Mutation	SNP	109909456	109909456	18117	6	T	C	C	50	50	ZBTB24	C	4	4
AKD1	221264	broad.mit.edu	36	6	110102113	110102113	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:110102113C>A	uc003ptr.2	-	c.162G>T	c.(160-162)TGG>TGT	p.W54C	AKD1_uc003pts.1_Non-coding_Transcript	NM_145025	NP_659462	Q5TCS8	AKD1_HUMAN	hypothetical protein LOC221264 isoform 2	54					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1														0.186667	24.294232	31.208188	14	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110102113	110102113	463	6	C	A	A	30	30	AKD1	A	3	3
FIG4	9896	broad.mit.edu	36	6	110144441	110144441	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:110144441C>T	uc003ptt.2	+	c.266C>T	c.(265-267)GCG>GTG	p.A89V		NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	89					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)												0.250804	175.114834	192.660236	78	233	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	Missense_Mutation	SNP	110144441	110144441	6126	6	C	T	T	27	27	FIG4	T	1	1
FIG4	9896	broad.mit.edu	36	6	110171109	110171109	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:110171109C>T	uc003ptt.2	+	c.980C>T	c.(979-981)TCT>TTT	p.S327F		NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	327	SAC.				cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)												0.3	181.273383	189.50028	69	161	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	Missense_Mutation	SNP	110171109	110171109	6126	6	C	T	T	32	32	FIG4	T	2	2
FIG4	9896	broad.mit.edu	36	6	110190082	110190082	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:110190082G>A	uc003ptt.2	+	c.1367G>A	c.(1366-1368)AGC>AAC	p.S456N		NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	456	SAC.				cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)												0.196078	39.534772	48.322858	20	82	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	Missense_Mutation	SNP	110190082	110190082	6126	6	G	A	A	34	34	FIG4	A	2	2
WASF1	8936	broad.mit.edu	36	6	110555449	110555449	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:110555449C>A	uc003ptv.1	-	c.49G>T	c.(49-51)GCA>TCA	p.A17S	WASF1_uc003ptw.1_Missense_Mutation_p.A17S|WASF1_uc003ptx.1_Missense_Mutation_p.A17S|WASF1_uc003pty.1_Missense_Mutation_p.A17S|WASF1_uc003ptz.1_Missense_Mutation_p.A17S	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	17					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)												0.280899	60.332472	64.17611	25	64	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	Missense_Mutation	SNP	110555449	110555449	17824	6	C	A	A	28	28	WASF1	A	3	3
SLC22A16	85413	broad.mit.edu	36	6	110884518	110884518	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:110884518C>T	uc003puf.1	-	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	SLC22A16_uc003pue.1_Missense_Mutation_p.R131Q|SLC22A16_uc003pug.2_Missense_Mutation_p.R150Q	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	150					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane|plasma membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)												0.272727	113.622667	121.818309	48	128	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Missense_Mutation	SNP	110884518	110884518	14943	6	C	T	T	31	31	SLC22A16	T	1	1
ELOVL2	54898	broad.mit.edu	36	6	11092125	11092125	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:11092125T>C	uc003mzp.2	-	c.766A>G	c.(766-768)ACA>GCA	p.T256A		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	256					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)												0.196629	89.032008	104.286297	35	143	TT		KEEP	---	---	---	---	capture	Epithelial(50;0.176)		Missense_Mutation	SNP	11092125	11092125	5266	6	T	C	C	58	58	ELOVL2	C	4	4
RPF2	84154	broad.mit.edu	36	6	111427665	111427665	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:111427665C>A	uc003pun.1	+	c.375C>A	c.(373-375)GTC>GTA	p.V125V	RPF2_uc003puo.1_Silent_p.V62V	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	125	Brix.					nucleolus	protein binding			ovary(2)	2														0.265957	113.048335	122.36569	50	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	111427665	111427665	14026	6	C	A	A	32	32	RPF2	A	3	3
REV3L	5980	broad.mit.edu	36	6	111737843	111737843	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:111737843G>T	uc003puy.2	-	c.8948C>A	c.(8947-8949)ACT>AAT	p.T2983N	REV3L_uc003pux.2_Missense_Mutation_p.T2905N|REV3L_uc003puz.2_Missense_Mutation_p.T2905N|REV3L_uc003puw.2_Missense_Mutation_p.T50N	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	REV3-like, catalytic subunit of DNA polymerase	2983					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(1)|skin(1)	4		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)												0.230769	75.093932	84.599347	33	110	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	Missense_Mutation	SNP	111737843	111737843	13710	6	G	T	T	36	36	REV3L	T	3	3
REV3L	5980	broad.mit.edu	36	6	111786870	111786870	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:111786870C>T	uc003puy.2	-	c.6920G>A	c.(6919-6921)CGA>CAA	p.R2307Q	REV3L_uc003pux.2_Missense_Mutation_p.R2229Q|REV3L_uc003puz.2_Missense_Mutation_p.R2229Q|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	REV3-like, catalytic subunit of DNA polymerase	2307					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(1)|skin(1)	4		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)												0.567251	289.08461	289.757902	97	74	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	Missense_Mutation	SNP	111786870	111786870	13710	6	C	T	T	31	31	REV3L	T	1	1
REV3L	5980	broad.mit.edu	36	6	111801548	111801548	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:111801548T>C	uc003puy.2	-	c.4703A>G	c.(4702-4704)AAC>AGC	p.N1568S	REV3L_uc003pux.2_Missense_Mutation_p.N1490S|REV3L_uc003puz.2_Missense_Mutation_p.N1490S	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	REV3-like, catalytic subunit of DNA polymerase	1568					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(1)|skin(1)	4		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)												0.579805	1274.619142	1278.036652	356	258	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	Missense_Mutation	SNP	111801548	111801548	13710	6	T	C	C	60	60	REV3L	C	4	4
REV3L	5980	broad.mit.edu	36	6	111803280	111803280	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:111803280G>T	uc003puy.2	-	c.2971C>A	c.(2971-2973)CTT>ATT	p.L991I	REV3L_uc003pux.2_Missense_Mutation_p.L913I|REV3L_uc003puz.2_Missense_Mutation_p.L913I	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	REV3-like, catalytic subunit of DNA polymerase	991					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(1)|skin(1)	4		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)												0.263158	48.762764	52.620585	20	56	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	Missense_Mutation	SNP	111803280	111803280	13710	6	G	T	T	34	34	REV3L	T	3	3
REV3L	5980	broad.mit.edu	36	6	111910722	111910722	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:111910722A>G	uc003puy.2	-	c.63T>C	c.(61-63)GAT>GAC	p.D21D	REV3L_uc003pux.2_5'UTR|REV3L_uc003puz.2_5'UTR	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	REV3-like, catalytic subunit of DNA polymerase	21					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(1)|skin(1)	4		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)												0.25	13.363832	14.71124	6	18	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	Silent	SNP	111910722	111910722	13710	6	A	G	G	16	16	REV3L	G	4	4
REV3L	5980	broad.mit.edu	36	6	111910724	111910724	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:111910724C>A	uc003puy.2	-	c.61G>T	c.(61-63)GAT>TAT	p.D21Y	REV3L_uc003pux.2_5'UTR|REV3L_uc003puz.2_5'UTR	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	REV3-like, catalytic subunit of DNA polymerase	21					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(1)|skin(1)	4		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)												0.238095	9.623216	10.900938	5	16	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	Missense_Mutation	SNP	111910724	111910724	13710	6	C	A	A	30	30	REV3L	A	3	3
TUBE1	51175	broad.mit.edu	36	6	112500680	112500680	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:112500680A>C	uc003pvq.1	-	c.1068T>G	c.(1066-1068)ATT>ATG	p.I356M	TUBE1_uc003pvr.1_Missense_Mutation_p.I281M	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	356					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)												0.315789	180.437151	186.16865	60	130	AA		KEEP	---	---	---	---	capture		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Missense_Mutation	SNP	112500680	112500680	17318	6	A	C	C	1	1	TUBE1	C	4	4
LAMA4	3910	broad.mit.edu	36	6	112634961	112634961	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:112634961G>A	uc003pvu.2	-	c.376C>T	c.(376-378)CCC>TCC	p.P126S	LAMA4_uc003pvv.2_Missense_Mutation_p.P126S|LAMA4_uc003pvt.2_Missense_Mutation_p.P126S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	126	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)												0.571429	228.734043	229.378414	84	63	GG		KEEP	---	---	---	---	capture		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	Missense_Mutation	SNP	112634961	112634961	8931	6	G	A	A	44	44	LAMA4	A	2	2
RFPL4B	442247	broad.mit.edu	36	6	112778086	112778086	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:112778086C>T	uc003pvx.1	+	c.483C>T	c.(481-483)GGC>GGT	p.G161G	RFPL4B_uc010kec.1_Silent_p.G161G	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	161	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)												0.50365	192.977408	192.979146	69	68	CC		KEEP	---	---	---	---	capture		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	Silent	SNP	112778086	112778086	13728	6	C	T	T	27	27	RFPL4B	T	1	1
NEDD9	4739	broad.mit.edu	36	6	11301832	11301832	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:11301832G>T	uc003mzv.1	-	c.539C>A	c.(538-540)CCT>CAT	p.P180H	NEDD9_uc010joz.1_Missense_Mutation_p.P180H|NEDD9_uc003mzw.2_Missense_Mutation_p.P34H	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	180	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)								152				0.293233	94.562035	99.658878	39	94	GG		KEEP	---	---	---	---	capture	Epithelial(50;0.0647)|all cancers(50;0.179)		Missense_Mutation	SNP	11301832	11301832	10712	6	G	T	T	35	35	NEDD9	T	3	3
HS3ST5	222537	broad.mit.edu	36	6	114485396	114485396	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:114485396G>A	uc003pwg.2	-	c.759C>T	c.(757-759)GTC>GTT	p.V253V	HS3ST5_uc003pwh.2_Silent_p.V253V	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	253	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)												0.273196	124.991525	133.985523	53	141	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	Silent	SNP	114485396	114485396	7662	6	G	A	A	37	37	HS3ST5	A	1	1
TSPYL1	7259	broad.mit.edu	36	6	116707392	116707392	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:116707392C>T	uc003pwp.2	-	c.295G>A	c.(295-297)GAA>AAA	p.E99K	DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.1_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	99					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)												0.302632	58.295552	60.938878	23	53	CC		KEEP	---	---	---	---	capture		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	Missense_Mutation	SNP	116707392	116707392	17212	6	C	T	T	30	30	TSPYL1	T	2	2
DSE	29940	broad.mit.edu	36	6	116864355	116864355	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:116864355C>T	uc003pws.1	+	c.2031C>T	c.(2029-2031)CAC>CAT	p.H677H	DSE_uc003pwt.1_Silent_p.H677H|DSE_uc003pwu.1_Silent_p.H344H	NM_001080976	NP_037484	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	677					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)												0.267677	119.250891	128.934228	53	145	CC		KEEP	---	---	---	---	capture		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	Silent	SNP	116864355	116864355	4958	6	C	T	T	19	19	DSE	T	1	1
FAM26D	221301	broad.mit.edu	36	6	116985833	116985833	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:116985833G>A	uc003pxa.1	+	c.282G>A	c.(280-282)GAG>GAA	p.E94E	FAM26D_uc003pwz.1_Silent_p.E51E|FAM26D_uc010ked.1_Silent_p.E51E	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN	hypothetical protein LOC221301	237						integral to membrane					0		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)												0.317073	177.911438	184.005903	65	140	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)	Silent	SNP	116985833	116985833	5769	6	G	A	A	34	34	FAM26D	A	2	2
RSPH4A	345895	broad.mit.edu	36	6	117055538	117055538	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117055538T>G	uc003pxe.1	+	c.975T>G	c.(973-975)GCT>GCG	p.A325A	RSPH4A_uc010kee.1_Silent_p.A325A	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A	325					cilium axoneme assembly|cilium movement	cilium axoneme|cytoplasm|cytoskeleton|motile cilium|radial spoke					0														0.239264	96.642232	106.761393	39	124	TT		KEEP	---	---	---	---	capture			Silent	SNP	117055538	117055538	14186	6	T	G	G	55	55	RSPH4A	G	4	4
KPNA5	3841	broad.mit.edu	36	6	117120223	117120223	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117120223G>T	uc003pxh.1	+	c.315G>T	c.(313-315)CAG>CAT	p.Q105H		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	102	ARM 1; truncated.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)	3		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)							p.Q105H(HEC251-Tumor)	205				0.20202	37.635307	45.812099	20	79	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	Missense_Mutation	SNP	117120223	117120223	8747	6	G	T	T	33	33	KPNA5	T	3	3
GPRC6A	222545	broad.mit.edu	36	6	117220253	117220253	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117220253C>A	uc003pxj.1	-	c.2526G>T	c.(2524-2526)GAG>GAT	p.E842D	GPRC6A_uc003pxk.1_Missense_Mutation_p.E667D|GPRC6A_uc003pxl.1_Missense_Mutation_p.E771D	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	842	Cytoplasmic (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)												0.194444	65.408821	81.099516	35	145	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	Missense_Mutation	SNP	117220253	117220253	7004	6	C	A	A	32	32	GPRC6A	A	3	3
GPRC6A	222545	broad.mit.edu	36	6	117220317	117220317	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117220317G>A	uc003pxj.1	-	c.2462C>T	c.(2461-2463)TCT>TTT	p.S821F	GPRC6A_uc003pxk.1_Missense_Mutation_p.S646F|GPRC6A_uc003pxl.1_Missense_Mutation_p.S750F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	821	Helical; Name=7; (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)												0.277778	89.865473	95.467603	35	91	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	Missense_Mutation	SNP	117220317	117220317	7004	6	G	A	A	33	33	GPRC6A	A	2	2
RFX6	222546	broad.mit.edu	36	6	117349949	117349949	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117349949C>T	uc003pxm.1	+	c.1379C>T	c.(1378-1380)GCC>GTC	p.A460V		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	460					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.292308	96.692317	101.717605	38	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117349949	117349949	13739	6	C	T	T	26	26	RFX6	T	2	2
ROS1	6098	broad.mit.edu	36	6	117716507	117716507	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117716507C>A	uc003pxp.1	-	c.6885G>T	c.(6883-6885)CAG>CAT	p.Q2295H		NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2295	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(5)|central_nervous_system(3)|stomach(2)|large_intestine(1)|lung(1)	12		all_cancers(87;0.00846)|all_epithelial(87;0.0242)								1038				0.299363	116.953844	122.60766	47	110	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	Missense_Mutation	SNP	117716507	117716507	14010	6	C	A	A	24	24	ROS1	A	3	3
ROS1	6098	broad.mit.edu	36	6	117747769	117747769	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117747769C>A	uc003pxp.1	-	c.5895G>T	c.(5893-5895)GTG>GTT	p.V1965V	GOPC_uc003pxq.1_Silent_p.V291V	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1965	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(5)|central_nervous_system(3)|stomach(2)|large_intestine(1)|lung(1)	12		all_cancers(87;0.00846)|all_epithelial(87;0.0242)								1038				0.227907	109.452239	124.066587	49	166	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	Silent	SNP	117747769	117747769	14010	6	C	A	A	21	21	ROS1	A	3	3
ROS1	6098	broad.mit.edu	36	6	117765071	117765071	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117765071C>T	uc003pxp.1	-	c.5205G>A	c.(5203-5205)ACG>ACA	p.T1735T	GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1735	Fibronectin type-III 8.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(5)|central_nervous_system(3)|stomach(2)|large_intestine(1)|lung(1)	12		all_cancers(87;0.00846)|all_epithelial(87;0.0242)								1038				0.467742	180.940388	181.05261	58	66	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	Silent	SNP	117765071	117765071	14010	6	C	T	T	23	23	ROS1	T	1	1
C6orf170	221322	broad.mit.edu	36	6	121523843	121523843	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:121523843G>A	uc003pyo.1	-	c.2629C>T	c.(2629-2631)CTT>TTT	p.L877F	C6orf170_uc003pyp.1_Missense_Mutation_p.L437F|C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'UTR	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	877					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3														0.333333	138.338547	142.180972	52	104	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.00521)	Missense_Mutation	SNP	121523843	121523843	2449	6	G	A	A	33	33	C6orf170	A	2	2
GJA1	2697	broad.mit.edu	36	6	121810647	121810647	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:121810647C>T	uc003pyr.1	+	c.955C>T	c.(955-957)CGA>TGA	p.R319*	GJA1_uc010kek.1_Nonsense_Mutation_p.R319*	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	319	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2					Carvedilol(DB01136)									0.284946	129.192027	136.918102	53	133	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.00252)	Nonsense_Mutation	SNP	121810647	121810647	6668	6	C	T	T	31	31	GJA1	T	5	1
HIVEP1	3096	broad.mit.edu	36	6	12228602	12228602	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:12228602C>T	uc003nac.1	+	c.588C>T	c.(586-588)TTC>TTT	p.F196F		NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	196					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)												0.288462	110.009568	116.270255	45	111	CC		KEEP	---	---	---	---	capture			Silent	SNP	12228602	12228602	7477	6	C	T	T	31	31	HIVEP1	T	1	1
HIVEP1	3096	broad.mit.edu	36	6	12229886	12229886	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:12229886G>A	uc003nac.1	+	c.1872G>A	c.(1870-1872)CAG>CAA	p.Q624Q		NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	624					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)												0.246154	76.73403	84.36317	32	98	GG		KEEP	---	---	---	---	capture			Silent	SNP	12229886	12229886	7477	6	G	A	A	33	33	HIVEP1	A	2	2
HIVEP1	3096	broad.mit.edu	36	6	12229998	12229998	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:12229998C>T	uc003nac.1	+	c.1984C>T	c.(1984-1986)CTC>TTC	p.L662F		NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	662					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)												0.59633	205.687463	206.569857	65	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12229998	12229998	7477	6	C	T	T	28	28	HIVEP1	T	2	2
HSF2	3298	broad.mit.edu	36	6	122776402	122776402	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:122776402C>T	uc003pyu.1	+	c.364C>T	c.(364-366)CGT>TGT	p.R122C	HSF2_uc003pyt.2_Missense_Mutation_p.R122C|HSF2_uc003pyv.1_Missense_Mutation_p.R122C	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	122	Nuclear localization signal (Potential).|Hydrophobic repeat HR-A/B.				regulation of transcription, DNA-dependent|response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0														0.263158	48.163532	52.020792	20	56	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	Missense_Mutation	SNP	122776402	122776402	7691	6	C	T	T	31	31	HSF2	T	1	1
HSF2	3298	broad.mit.edu	36	6	122785697	122785697	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:122785697C>T	uc003pyu.1	+	c.966C>T	c.(964-966)CTC>CTT	p.L322L	HSF2_uc003pyv.1_Silent_p.L322L	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	322					regulation of transcription, DNA-dependent|response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0														0.213333	63.506203	74.906736	32	118	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	Silent	SNP	122785697	122785697	7691	6	C	T	T	29	29	HSF2	T	2	2
TRDN	10345	broad.mit.edu	36	6	123933835	123933835	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:123933835G>A	uc003pzj.1	-	c.164C>T	c.(163-165)GCC>GTC	p.A55V	TRDN_uc003pzk.1_Missense_Mutation_p.A55V|TRDN_uc003pzl.1_Missense_Mutation_p.A55V|TRDN_uc010ken.1_Missense_Mutation_p.A55V|TRDN_uc010keo.1_Missense_Mutation_p.A55V	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	55	Helical; (Potential).				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1														0.223022	68.747886	78.557961	31	108	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.184)	Missense_Mutation	SNP	123933835	123933835	17012	6	G	A	A	42	42	TRDN	A	2	2
NKAIN2	154215	broad.mit.edu	36	6	125021197	125021197	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:125021197A>G	uc003pzo.1	+	c.440A>G	c.(439-441)GAA>GGA	p.E147G	NKAIN2_uc003pzn.1_Missense_Mutation_p.E147G|NKAIN2_uc003pzp.1_Missense_Mutation_p.E146G|NKAIN2_uc010keq.1_Intron|NKAIN2_uc010ker.1_Missense_Mutation_p.E57G	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	147						integral to membrane|plasma membrane					0														0.283465	108.84528	114.194727	36	91	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.104)	Missense_Mutation	SNP	125021197	125021197	10837	6	A	G	G	9	9	NKAIN2	G	4	4
NCOA7	135112	broad.mit.edu	36	6	126251891	126251891	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:126251891G>A	uc010kes.1	+	c.998G>A	c.(997-999)CGA>CAA	p.R333Q	NCOA7_uc003qae.2_Missense_Mutation_p.R333Q|NCOA7_uc010ket.1_Missense_Mutation_p.R218Q|NCOA7_uc003qah.2_Missense_Mutation_p.R322Q|NCOA7_uc003qai.2_Missense_Mutation_p.R333Q	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	333					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3														0.546154	422.45468	422.935156	142	118	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	Missense_Mutation	SNP	126251891	126251891	10633	6	G	A	A	37	37	NCOA7	A	1	1
NCOA7	135112	broad.mit.edu	36	6	126283901	126283901	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:126283901C>T	uc010kes.1	+	c.2364C>T	c.(2362-2364)ATC>ATT	p.I788I	NCOA7_uc003qae.2_Silent_p.I788I|NCOA7_uc003qah.2_Silent_p.I777I|NCOA7_uc003qai.2_Silent_p.I788I|NCOA7_uc003qak.2_Silent_p.I65I	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	788					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3														0.161616	25.13925	35.924943	16	83	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	Silent	SNP	126283901	126283901	10633	6	C	T	T	31	31	NCOA7	T	1	1
TRMT11	60487	broad.mit.edu	36	6	126375688	126375688	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:126375688A>C	uc003qam.1	+	c.1004A>C	c.(1003-1005)AAA>ACA	p.K335T	TRMT11_uc003qan.1_Non-coding_Transcript|TRMT11_uc010kev.1_Missense_Mutation_p.K335T	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	tRNA guanosine-2'-O-methyltransferase TRM11	335					tRNA processing		methyltransferase activity|nucleic acid binding			ovary(1)	1														0.578947	158.915683	159.329812	44	32	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0356)	Missense_Mutation	SNP	126375688	126375688	17112	6	A	C	C	1	1	TRMT11	C	4	4
C6orf174	387104	broad.mit.edu	36	6	127838196	127838196	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:127838196C>T	uc003qbf.1	-	c.2668G>A	c.(2668-2670)GAC>AAC	p.D890N	KIAA0408_uc003qbc.1_5'UTR|KIAA0408_uc003qbd.1_5'UTR|KIAA0408_uc003qbe.1_Non-coding_Transcript	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104	890						integral to membrane				breast(3)|ovary(2)	5														0.268908	70.962771	76.69134	32	87	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	Missense_Mutation	SNP	127838196	127838196	2450	6	C	T	T	31	31	C6orf174	T	1	1
C6orf174	387104	broad.mit.edu	36	6	127838784	127838784	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:127838784C>T	uc003qbf.1	-	c.2080G>A	c.(2080-2082)GAC>AAC	p.D694N	KIAA0408_uc003qbc.1_5'Flank|KIAA0408_uc003qbd.1_5'UTR|KIAA0408_uc003qbe.1_Non-coding_Transcript	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104	694	Potential.					integral to membrane				breast(3)|ovary(2)	5														0.27044	100.265478	107.81855	43	116	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	Missense_Mutation	SNP	127838784	127838784	2450	6	C	T	T	31	31	C6orf174	T	1	1
LAMA2	3908	broad.mit.edu	36	6	129509815	129509815	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129509815G>A	uc003qbn.1	+	c.838G>A	c.(838-840)GAT>AAT	p.D280N	LAMA2_uc003qbo.1_Missense_Mutation_p.D280N|LAMA2_uc010kfe.1_Missense_Mutation_p.D280N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	280	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9														0.265385	169.710483	182.611934	69	191	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Missense_Mutation	SNP	129509815	129509815	8929	6	G	A	A	41	41	LAMA2	A	2	2
LAMA2	3908	broad.mit.edu	36	6	129553159	129553159	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129553159G>T	uc003qbn.1	+	c.1584G>T	c.(1582-1584)CAG>CAT	p.Q528H	LAMA2_uc003qbo.1_Missense_Mutation_p.Q528H|LAMA2_uc010kfe.1_Missense_Mutation_p.Q528H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	528					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9														0.348485	55.660894	57.017747	23	43	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Missense_Mutation	SNP	129553159	129553159	8929	6	G	T	T	33	33	LAMA2	T	3	3
LAMA2	3908	broad.mit.edu	36	6	129555566	129555566	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129555566C>T	uc003qbn.1	+	c.1657C>T	c.(1657-1659)CGA>TGA	p.R553*	LAMA2_uc003qbo.1_Nonsense_Mutation_p.R553*|LAMA2_uc010kfe.1_Nonsense_Mutation_p.R553*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	553	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9														0.230769	31.190395	35.510261	15	50	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Nonsense_Mutation	SNP	129555566	129555566	8929	6	C	T	T	31	31	LAMA2	T	5	1
LAMA2	3908	broad.mit.edu	36	6	129729083	129729083	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129729083C>A	uc003qbn.1	+	c.4744C>A	c.(4744-4746)CTT>ATT	p.L1582I	LAMA2_uc003qbo.1_Missense_Mutation_p.L1582I|LAMA2_uc010kfe.1_Missense_Mutation_p.L1582I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1582	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9														0.231638	83.857157	95.562946	41	136	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Missense_Mutation	SNP	129729083	129729083	8929	6	C	A	A	32	32	LAMA2	A	3	3
LAMA2	3908	broad.mit.edu	36	6	129817080	129817080	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129817080G>T	uc003qbn.1	+	c.6661G>T	c.(6661-6663)GAT>TAT	p.D2221Y	LAMA2_uc003qbo.1_Missense_Mutation_p.D2221Y|LAMA2_uc010kfe.1_Missense_Mutation_p.D2221Y	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2221	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9														0.42268	108.237686	108.747726	41	56	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Missense_Mutation	SNP	129817080	129817080	8929	6	G	T	T	33	33	LAMA2	T	3	3
LAMA2	3908	broad.mit.edu	36	6	129865550	129865550	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129865550C>T	uc003qbn.1	+	c.8298C>T	c.(8296-8298)TTC>TTT	p.F2766F	LAMA2_uc003qbo.1_Silent_p.F2762F|LAMA2_uc010kfe.1_Silent_p.F2766F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2766	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9														0.343284	117.938373	120.832028	46	88	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Silent	SNP	129865550	129865550	8929	6	C	T	T	31	31	LAMA2	T	1	1
ARHGAP18	93663	broad.mit.edu	36	6	129946908	129946908	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129946908G>T	uc003qbr.1	-	c.1756C>A	c.(1756-1758)CTT>ATT	p.L586I		NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	586					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)	2														0.226087	52.980245	60.913074	26	89	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	Missense_Mutation	SNP	129946908	129946908	879	6	G	T	T	33	33	ARHGAP18	T	3	3
SAMD3	154075	broad.mit.edu	36	6	130507433	130507433	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:130507433G>A	uc003qbv.1	-	c.1488C>T	c.(1486-1488)TTC>TTT	p.F496F	SAMD3_uc003qbw.1_Silent_p.F496F|SAMD3_uc003qbx.1_Silent_p.F496F	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	496										ovary(1)	1														0.25974	94.728345	102.779898	40	114	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	Silent	SNP	130507433	130507433	14300	6	G	A	A	37	37	SAMD3	A	1	1
TMEM200A	114801	broad.mit.edu	36	6	130803358	130803358	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:130803358C>A	uc003qca.1	+	c.98C>A	c.(97-99)GCT>GAT	p.A33D	TMEM200A_uc010kfh.1_Missense_Mutation_p.A33D|TMEM200A_uc010kfi.1_Missense_Mutation_p.A33D|TMEM200A_uc003qcb.1_Missense_Mutation_p.A33D|TMEM200A_uc010kfj.1_Missense_Mutation_p.A33D	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	33	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1										66				0.576087	468.820497	470.207611	159	117	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	Missense_Mutation	SNP	130803358	130803358	16658	6	C	A	A	28	28	TMEM200A	A	3	3
TMEM200A	114801	broad.mit.edu	36	6	130803890	130803890	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:130803890C>T	uc003qca.1	+	c.630C>T	c.(628-630)ATC>ATT	p.I210I	TMEM200A_uc010kfh.1_Silent_p.I210I|TMEM200A_uc010kfi.1_Silent_p.I210I|TMEM200A_uc003qcb.1_Silent_p.I210I|TMEM200A_uc010kfj.1_Silent_p.I210I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	210	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1										66				0.275862	37.774468	40.398604	16	42	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	Silent	SNP	130803890	130803890	16658	6	C	T	T	31	31	TMEM200A	T	1	1
EPB41L2	2037	broad.mit.edu	36	6	131263989	131263989	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:131263989C>T	uc003qch.1	-	c.954G>A	c.(952-954)CGG>CGA	p.R318R	EPB41L2_uc003qcg.1_Silent_p.R318R|EPB41L2_uc010kfk.1_Silent_p.R318R|EPB41L2_uc003qci.1_Silent_p.R318R|EPB41L2_uc010kfl.1_Silent_p.R318R	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	318	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)													0.268456	97.244367	104.449348	40	109	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	Silent	SNP	131263989	131263989	5346	6	C	T	T	26	26	EPB41L2	T	2	2
AKAP7	9465	broad.mit.edu	36	6	131644549	131644549	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:131644549A>G	uc003qck.1	+	c.971A>G	c.(970-972)AAC>AGC	p.N324S	AKAP7_uc003qcl.1_Intron|AKAP7_uc003qcm.1_Missense_Mutation_p.N102S|AKAP7_uc003qcn.1_Missense_Mutation_p.N79S	NM_016377	NP_057461	Q9P0M2	AKA7G_HUMAN	A-kinase anchor protein 7 isoform gamma	324					RNA metabolic process	cytosol	catalytic activity			ovary(2)	2	Breast(56;0.152)													0.368421	67.264334	68.130098	21	36	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	Missense_Mutation	SNP	131644549	131644549	459	6	A	G	G	2	2	AKAP7	G	4	4
MED23	9439	broad.mit.edu	36	6	131952346	131952346	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:131952346G>T	uc003qcs.1	-	c.3891C>A	c.(3889-3891)TTC>TTA	p.F1297L	MED23_uc003qcq.1_Missense_Mutation_p.F1303L|MED23_uc003qcr.1_Missense_Mutation_p.F152L	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1297					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity			ovary(1)|kidney(1)	2	Breast(56;0.0753)													0.612245	170.902825	171.981383	60	38	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	Missense_Mutation	SNP	131952346	131952346	9830	6	G	T	T	41	41	MED23	T	3	3
MED23	9439	broad.mit.edu	36	6	131954253	131954253	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:131954253G>T	uc003qcs.1	-	c.3579C>A	c.(3577-3579)TTC>TTA	p.F1193L	MED23_uc003qcq.1_Missense_Mutation_p.F1199L|MED23_uc003qcr.1_Missense_Mutation_p.F48L	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1193					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity			ovary(1)|kidney(1)	2	Breast(56;0.0753)													0.258503	84.972399	92.747957	38	109	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	Missense_Mutation	SNP	131954253	131954253	9830	6	G	T	T	45	45	MED23	T	3	3
MED23	9439	broad.mit.edu	36	6	131956935	131956935	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:131956935C>T	uc003qcs.1	-	c.3229G>A	c.(3229-3231)GAT>AAT	p.D1077N	MED23_uc003qcq.1_Missense_Mutation_p.D1083N|MED23_uc003qcr.1_5'Flank	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1077					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity			ovary(1)|kidney(1)	2	Breast(56;0.0753)													0.5	126.32062	126.32062	43	43	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	Missense_Mutation	SNP	131956935	131956935	9830	6	C	T	T	31	31	MED23	T	1	1
MED23	9439	broad.mit.edu	36	6	131959434	131959434	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:131959434G>A	uc003qcs.1	-	c.2695C>T	c.(2695-2697)CGA>TGA	p.R899*	MED23_uc003qcq.1_Nonsense_Mutation_p.R905*	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	899					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity			ovary(1)|kidney(1)	2	Breast(56;0.0753)													0.625698	339.526639	342.006968	112	67	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	Nonsense_Mutation	SNP	131959434	131959434	9830	6	G	A	A	37	37	MED23	A	5	1
ENPP3	5169	broad.mit.edu	36	6	132012969	132012969	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:132012969C>A	uc003qcu.2	+	c.264C>A	c.(262-264)ACC>ACA	p.T88T	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc010kfq.1_Non-coding_Transcript|ENPP3_uc003qcv.1_Silent_p.T88T	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	88	Extracellular (Potential).|SMB 1.				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)	3	Breast(56;0.0753)													0.240816	129.283505	144.317665	59	186	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	Silent	SNP	132012969	132012969	5324	6	C	A	A	24	24	ENPP3	A	3	3
MOXD1	26002	broad.mit.edu	36	6	132660070	132660070	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:132660070G>A	uc003qdf.1	-	c.1757C>T	c.(1756-1758)TCC>TTC	p.S586F	MOXD1_uc003qde.1_Missense_Mutation_p.S518F	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	586	Lumenal (Potential).				catecholamine metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)													0.286517	124.28595	131.616086	51	127	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	Missense_Mutation	SNP	132660070	132660070	10112	6	G	A	A	41	41	MOXD1	A	2	2
MOXD1	26002	broad.mit.edu	36	6	132660740	132660740	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:132660740G>T	uc003qdf.1	-	c.1556C>A	c.(1555-1557)TCT>TAT	p.S519Y	MOXD1_uc003qde.1_Missense_Mutation_p.S451Y	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	519	Lumenal (Potential).				catecholamine metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)													0.465347	127.803947	127.91052	47	54	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	Missense_Mutation	SNP	132660740	132660740	10112	6	G	T	T	33	33	MOXD1	T	3	3
MOXD1	26002	broad.mit.edu	36	6	132678466	132678466	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:132678466C>T	uc003qdf.1	-	c.1508_splice	c.e10+1	p.T503_splice	MOXD1_uc003qde.1_Splice_Site_SNP_p.T435_splice	NM_015529	NP_056344			monooxygenase, DBH-like 1 isoform 2						catecholamine metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)													0.529052	498.963029	499.201548	173	154	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	Splice_Site_SNP	SNP	132678466	132678466	10112	6	C	T	T	19	19	MOXD1	T	5	1
TAAR6	319100	broad.mit.edu	36	6	132933705	132933705	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:132933705A>G	uc003qdj.1	+	c.552A>G	c.(550-552)CTA>CTG	p.L184L		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	184	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)	2	Breast(56;0.112)													0.198276	173.199259	202.682232	69	279	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	Silent	SNP	132933705	132933705	16013	6	A	G	G	13	13	TAAR6	G	4	4
TAAR5	9038	broad.mit.edu	36	6	132952478	132952478	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:132952478G>A	uc003qdk.1	-	c.41C>T	c.(40-42)GCG>GTG	p.A14V		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	14	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity				0	Breast(56;0.112)													0.252033	69.866341	76.737084	31	92	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	Missense_Mutation	SNP	132952478	132952478	16012	6	G	A	A	38	38	TAAR5	A	1	1
TAAR2	9287	broad.mit.edu	36	6	132980638	132980638	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:132980638G>T	uc003qdl.1	-	c.400C>A	c.(400-402)CTT>ATT	p.L134I	TAAR2_uc010kfr.1_Missense_Mutation_p.L89I	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	134	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)													0.261194	77.952834	84.878082	35	99	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	Missense_Mutation	SNP	132980638	132980638	16011	6	G	T	T	33	33	TAAR2	T	3	3
TAAR1	134864	broad.mit.edu	36	6	133008029	133008029	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:133008029G>T	uc003qdm.1	-	c.807C>A	c.(805-807)ATC>ATA	p.I269I		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	269	Helical; Name=6; (Potential).					integral to membrane|plasma membrane					0	Breast(56;0.135)				Amphetamine(DB00182)									0.585227	293.512735	294.622517	103	73	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Silent	SNP	133008029	133008029	16010	6	G	T	T	33	33	TAAR1	T	3	3
TAAR1	134864	broad.mit.edu	36	6	133008110	133008110	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:133008110T>C	uc003qdm.1	-	c.726A>G	c.(724-726)TCA>TCG	p.S242S		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	242	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	Breast(56;0.135)				Amphetamine(DB00182)									0.559006	289.266721	289.755514	90	71	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Silent	SNP	133008110	133008110	16010	6	T	C	C	59	59	TAAR1	C	4	4
EYA4	2070	broad.mit.edu	36	6	133844301	133844301	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:133844301C>T	uc003qec.2	+	c.978C>T	c.(976-978)TTC>TTT	p.F326F	EYA4_uc003qed.2_Silent_p.F326F|EYA4_uc003qee.2_Silent_p.F303F|EYA4_uc010kge.1_Silent_p.F135F	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	326					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)					Melanoma(57;398 1237 3528 4702 7415)								0.265823	150.418563	162.163319	63	174	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	Silent	SNP	133844301	133844301	5525	6	C	T	T	31	31	EYA4	T	1	1
EYA4	2070	broad.mit.edu	36	6	133844387	133844387	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:133844387G>A	uc003qec.2	+	c.1064G>A	c.(1063-1065)GGC>GAC	p.G355D	EYA4_uc003qed.2_Missense_Mutation_p.G355D|EYA4_uc003qee.2_Missense_Mutation_p.G332D|EYA4_uc010kge.1_Missense_Mutation_p.G164D	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	355					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)					Melanoma(57;398 1237 3528 4702 7415)								0.29646	162.912546	171.244528	67	159	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	Missense_Mutation	SNP	133844387	133844387	5525	6	G	A	A	42	42	EYA4	A	2	2
C6orf114	85411	broad.mit.edu	36	6	13578362	13578362	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:13578362T>C	uc003nav.1	-	c.130A>G	c.(130-132)ACT>GCT	p.T44A	GFOD1_uc003nas.1_Intron|GFOD1_uc003nat.1_Intron|C6orf114_uc003nau.1_Non-coding_Transcript|C6orf114_uc010jpe.1_Missense_Mutation_p.T44A	NM_033069	NP_149060	Q96JD4	CF114_HUMAN	hypothetical protein LOC85411	44											0	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)												0.264463	81.346528	87.41549	32	89	TT		KEEP	---	---	---	---	capture	Epithelial(50;0.0504)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.147)		Missense_Mutation	SNP	13578362	13578362	2423	6	T	C	C	59	59	C6orf114	C	4	4
AHI1	54806	broad.mit.edu	36	6	135790050	135790050	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:135790050G>T	uc003qgh.1	-	c.2712C>A	c.(2710-2712)TTC>TTA	p.F904L	AHI1_uc003qgf.1_Non-coding_Transcript|AHI1_uc003qgg.1_Missense_Mutation_p.F354L|AHI1_uc003qgi.1_Missense_Mutation_p.F904L|AHI1_uc003qgj.1_Missense_Mutation_p.F904L|AHI1_uc003qgk.2_Non-coding_Transcript|AHI1_uc003qgl.2_Missense_Mutation_p.F904L	NM_017651	NP_060121	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	904	WD 7.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)													0.52	71.544248	71.561327	26	24	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	Missense_Mutation	SNP	135790050	135790050	416	6	G	T	T	33	33	AHI1	T	3	3
AHI1	54806	broad.mit.edu	36	6	135828864	135828864	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:135828864C>T	uc003qgh.1	-	c.530G>A	c.(529-531)AGA>AAA	p.R177K	AHI1_uc003qgi.1_Missense_Mutation_p.R177K|AHI1_uc003qgj.1_Missense_Mutation_p.R177K|AHI1_uc003qgk.2_Non-coding_Transcript|AHI1_uc003qgl.2_Missense_Mutation_p.R177K	NM_017651	NP_060121	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	177						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)													0.328042	172.880111	177.838456	62	127	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	Missense_Mutation	SNP	135828864	135828864	416	6	C	T	T	32	32	AHI1	T	2	2
PDE7B	27115	broad.mit.edu	36	6	136518572	136518572	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:136518572C>A	uc003qgr.1	+	c.850C>A	c.(850-852)CTT>ATT	p.L284I	PDE7B_uc003qgp.1_Missense_Mutation_p.L232I	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	232	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)				Dyphylline(DB00651)|Ketotifen(DB00920)									0.280488	51.781186	55.33977	23	59	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Missense_Mutation	SNP	136518572	136518572	12073	6	C	A	A	32	32	PDE7B	A	3	3
BCLAF1	9774	broad.mit.edu	36	6	136635950	136635950	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:136635950C>T	uc003qgx.1	-	c.1921G>A	c.(1921-1923)GAA>AAA	p.E641K	BCLAF1_uc003qgw.1_Missense_Mutation_p.E468K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E639K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	641					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)					Colon(142;1534 1789 5427 7063 28491)								0.087137	9.158749	92.342356	42	440	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	Missense_Mutation	SNP	136635950	136635950	1404	6	C	T	T	32	32	BCLAF1	T	2	2
BCLAF1	9774	broad.mit.edu	36	6	136639207	136639207	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:136639207G>A	uc003qgx.1	-	c.1149C>T	c.(1147-1149)TAC>TAT	p.Y383Y	BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.Y381Y	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	383					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)					Colon(142;1534 1789 5427 7063 28491)								0.094048	27.955551	167.131407	79	761	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	Silent	SNP	136639207	136639207	1404	6	G	A	A	36	36	BCLAF1	A	2	2
MAP7	9053	broad.mit.edu	36	6	136752313	136752313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:136752313G>A	uc003qgz.1	-	c.280C>T	c.(280-282)CGA>TGA	p.R94*	MAP7_uc003qha.1_Nonsense_Mutation_p.R94*|MAP7_uc010kgq.1_Intron|MAP7_uc010kgr.1_Intron|MAP7_uc010kgs.1_5'UTR|MAP7_uc010kgt.1_Nonsense_Mutation_p.R116*|MAP7_uc010kgu.1_Nonsense_Mutation_p.R116*|MAP7_uc010kgv.1_Nonsense_Mutation_p.R116*	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	94	Potential.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)													0.556075	332.565467	333.162221	119	95	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	Nonsense_Mutation	SNP	136752313	136752313	9649	6	G	A	A	38	38	MAP7	A	5	1
MAP3K5	4217	broad.mit.edu	36	6	136955046	136955046	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:136955046G>A	uc003qhc.1	-	c.3183C>T	c.(3181-3183)GAC>GAT	p.D1061D		NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1061					activation of JUN kinase activity|activation of MAPKK activity|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)	2	Colorectal(23;0.24)									1151				0.606707	594.492856	597.749721	199	129	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	Silent	SNP	136955046	136955046	9636	6	G	A	A	44	44	MAP3K5	A	2	2
MAP3K5	4217	broad.mit.edu	36	6	137057040	137057040	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:137057040C>T	uc003qhc.1	-	c.1184G>A	c.(1183-1185)CGA>CAA	p.R395Q	MAP3K5_uc010kgw.1_Missense_Mutation_p.R395Q	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	395					activation of JUN kinase activity|activation of MAPKK activity|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)	2	Colorectal(23;0.24)									1151				0.551282	251.964114	252.323626	86	70	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	Missense_Mutation	SNP	137057040	137057040	9636	6	C	T	T	31	31	MAP3K5	T	1	1
IL22RA2	116379	broad.mit.edu	36	6	137519612	137519612	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:137519612G>A	uc003qhl.1	-	c.270C>T	c.(268-270)TTC>TTT	p.F90F	IL22RA2_uc003qhm.1_Intron|IL22RA2_uc003qhn.1_Intron	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	interleukin 22-binding protein isoform 1	90					regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity				0	Colorectal(23;0.24)													0.57971	236.19273	236.955108	80	58	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	Silent	SNP	137519612	137519612	7975	6	G	A	A	41	41	IL22RA2	A	2	2
TNFAIP3	7128	broad.mit.edu	36	6	138237799	138237799	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138237799C>T	uc003qhr.1	+	c.420C>T	c.(418-420)TTC>TTT	p.F140F	TNFAIP3_uc003qhs.1_Silent_p.F140F	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	140	TRAF-binding.|OTU.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of caspase activity|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(21)		haematopoietic_and_lymphoid_tissue(129)|lung(2)|ovary(1)	132	Breast(32;0.135)|Colorectal(23;0.24)					GBM(130;153 1739 22295 28918 47987)				159				0.552941	280.730071	281.141374	94	76	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	Silent	SNP	138237799	138237799	16815	6	C	T	T	30	30	TNFAIP3	T	2	2
PERP	64065	broad.mit.edu	36	6	138454919	138454919	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138454919C>T	uc003qht.1	-	c.535G>A	c.(535-537)GAC>AAC	p.D179N		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	179					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)													0.222222	28.413307	32.889481	14	49	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	Missense_Mutation	SNP	138454919	138454919	12153	6	C	T	T	29	29	PERP	T	2	2
KIAA1244	57221	broad.mit.edu	36	6	138656898	138656898	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138656898G>A	uc003qhu.2	+	c.3444G>A	c.(3442-3444)TCG>TCA	p.S1148S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1148					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)													0.304054	107.909118	112.986301	45	103	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Silent	SNP	138656898	138656898	8526	6	G	A	A	38	38	KIAA1244	A	1	1
KIAA1244	57221	broad.mit.edu	36	6	138697109	138697109	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138697109G>A	uc003qhu.2	+	c.5433G>A	c.(5431-5433)GCG>GCA	p.A1811A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1811					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)													0.448276	35.068129	35.136067	13	16	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Silent	SNP	138697109	138697109	8526	6	G	A	A	37	37	KIAA1244	A	1	1
KIAA1244	57221	broad.mit.edu	36	6	138697275	138697275	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138697275G>A	uc003qhu.2	+	c.5599G>A	c.(5599-5601)GCC>ACC	p.A1867T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1867					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)													0.193548	10.932138	13.650155	6	25	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Missense_Mutation	SNP	138697275	138697275	8526	6	G	A	A	38	38	KIAA1244	A	1	1
KIAA1244	57221	broad.mit.edu	36	6	138697836	138697836	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138697836C>T	uc003qhu.2	+	c.6160C>T	c.(6160-6162)CTG>TTG	p.L2054L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	2054					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)													0.214286	6.817103	7.872716	3	11	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Silent	SNP	138697836	138697836	8526	6	C	T	T	20	20	KIAA1244	T	2	2
ECT2L	345930	broad.mit.edu	36	6	139212235	139212235	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:139212235G>A	uc003qif.1	+	c.1040G>A	c.(1039-1041)GGA>GAA	p.G347E		NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	hypothetical protein LOC345930	347					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0														0.26	60.897157	66.118137	26	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139212235	139212235	5089	6	G	A	A	41	41	ECT2L	A	2	2
ECT2L	345930	broad.mit.edu	36	6	139245626	139245626	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:139245626G>A	uc003qif.1	+	c.1953G>A	c.(1951-1953)ACG>ACA	p.T651T		NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	hypothetical protein LOC345930	651	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0														0.316456	63.653886	66.016918	25	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	139245626	139245626	5089	6	G	A	A	37	37	ECT2L	A	1	1
TXLNB	167838	broad.mit.edu	36	6	139633342	139633342	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:139633342G>A	uc010kha.1	-	c.631C>T	c.(631-633)CGA>TGA	p.R211*		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	211	Potential.					cytoplasm				large_intestine(1)	1														0.214876	55.886444	64.966709	26	95	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	Nonsense_Mutation	SNP	139633342	139633342	17344	6	G	A	A	37	37	TXLNB	A	5	1
GPR126	57211	broad.mit.edu	36	6	142730405	142730405	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:142730405G>T	uc010khe.1	+	c.110G>T	c.(109-111)GGA>GTA	p.G37V	GPR126_uc010khc.1_Missense_Mutation_p.G37V|GPR126_uc010khd.1_Missense_Mutation_p.G37V|GPR126_uc010khf.1_Missense_Mutation_p.G37V|GPR126_uc003qix.2_Missense_Mutation_p.G37V	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 beta 1	37					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)													0.222222	14.776004	17.336897	8	28	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	Missense_Mutation	SNP	142730405	142730405	6914	6	G	T	T	41	41	GPR126	T	3	3
GPR126	57211	broad.mit.edu	36	6	142782870	142782870	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:142782870C>A	uc010khe.1	+	c.3255C>A	c.(3253-3255)TTC>TTA	p.F1085L	GPR126_uc010khc.1_Missense_Mutation_p.F1085L|GPR126_uc010khd.1_Missense_Mutation_p.F1057L|GPR126_uc010khf.1_Missense_Mutation_p.F1057L	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 beta 1	1085	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)													0.248252	156.166005	172.672324	71	215	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	Missense_Mutation	SNP	142782870	142782870	6914	6	C	A	A	32	32	GPR126	A	3	3
HIVEP2	3097	broad.mit.edu	36	6	143127693	143127693	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:143127693G>A	uc003qjd.1	-	c.5454C>T	c.(5452-5454)ATC>ATT	p.I1818I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1818	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						Esophageal Squamous(107;843 1510 13293 16805 42198)								0.284722	101.412273	107.405377	41	103	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	Silent	SNP	143127693	143127693	7478	6	G	A	A	41	41	HIVEP2	A	2	2
HIVEP2	3097	broad.mit.edu	36	6	143132616	143132616	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:143132616G>T	uc003qjd.1	-	c.4953C>A	c.(4951-4953)TTC>TTA	p.F1651L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						Esophageal Squamous(107;843 1510 13293 16805 42198)								0.3125	107.415199	111.926644	45	99	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	Missense_Mutation	SNP	143132616	143132616	7478	6	G	T	T	33	33	HIVEP2	T	3	3
HIVEP2	3097	broad.mit.edu	36	6	143134764	143134764	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:143134764C>T	uc003qjd.1	-	c.2805G>A	c.(2803-2805)TTG>TTA	p.L935L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						Esophageal Squamous(107;843 1510 13293 16805 42198)								0.245161	76.885349	86.051004	38	117	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	Silent	SNP	143134764	143134764	7478	6	C	T	T	25	25	HIVEP2	T	2	2
HIVEP2	3097	broad.mit.edu	36	6	143136646	143136646	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:143136646C>A	uc003qjd.1	-	c.923G>T	c.(922-924)AGA>ATA	p.R308I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						Esophageal Squamous(107;843 1510 13293 16805 42198)								0.26738	110.341408	119.499545	50	137	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	Missense_Mutation	SNP	143136646	143136646	7478	6	C	A	A	32	32	HIVEP2	A	3	3
PEX3	8504	broad.mit.edu	36	6	143822002	143822002	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:143822002G>A	uc003qjl.1	+	c.161G>A	c.(160-162)CGA>CAA	p.R54Q		NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	54	Peroxisomal (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1														0.307692	142.629537	148.631318	56	126	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	Missense_Mutation	SNP	143822002	143822002	12169	6	G	A	A	37	37	PEX3	A	1	1
PEX3	8504	broad.mit.edu	36	6	143833902	143833902	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:143833902G>A	uc003qjl.1	+	c.443G>A	c.(442-444)GGC>GAC	p.G148D		NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	148	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1														0.504202	179.19568	179.197474	60	59	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	Missense_Mutation	SNP	143833902	143833902	12169	6	G	A	A	42	42	PEX3	A	2	2
LTV1	84946	broad.mit.edu	36	6	144220262	144220262	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:144220262G>T	uc003qjs.1	+	c.527G>T	c.(526-528)GGA>GTA	p.G176V	LTV1_uc003qju.1_5'UTR|C6orf94_uc010khj.1_5'UTR	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	176	Asp-rich.									ovary(1)	1														0.231023	140.979583	161.084411	70	233	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	Missense_Mutation	SNP	144220262	144220262	9457	6	G	T	T	41	41	LTV1	T	3	3
UTRN	7402	broad.mit.edu	36	6	144825613	144825613	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:144825613G>T	uc003qkt.1	+	c.2984G>T	c.(2983-2985)GGA>GTA	p.G995V	UTRN_uc010khq.1_Missense_Mutation_p.G995V	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	995					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)												0.216495	84.047999	98.433884	42	152	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Missense_Mutation	SNP	144825613	144825613	17668	6	G	T	T	41	41	UTRN	T	3	3
UTRN	7402	broad.mit.edu	36	6	144845217	144845217	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:144845217G>T	uc003qkt.1	+	c.3687G>T	c.(3685-3687)GAG>GAT	p.E1229D		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1229	Spectrin 8.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)												0.369863	68.09719	69.186714	27	46	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Missense_Mutation	SNP	144845217	144845217	17668	6	G	T	T	35	35	UTRN	T	3	3
UTRN	7402	broad.mit.edu	36	6	144884971	144884971	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:144884971G>T	uc003qkt.1	+	c.5704G>T	c.(5704-5706)GAC>TAC	p.D1902Y		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1902					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)												0.206422	86.935249	104.372484	45	173	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Missense_Mutation	SNP	144884971	144884971	17668	6	G	T	T	33	33	UTRN	T	3	3
UTRN	7402	broad.mit.edu	36	6	144940087	144940087	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:144940087C>A	uc003qkt.1	+	c.7449C>A	c.(7447-7449)ATC>ATA	p.I2483I		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2483	Spectrin 17.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)												0.231884	33.559027	38.107375	16	53	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Silent	SNP	144940087	144940087	17668	6	C	A	A	32	32	UTRN	A	3	3
UTRN	7402	broad.mit.edu	36	6	145160657	145160657	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:145160657A>G	uc003qkt.1	+	c.9083A>G	c.(9082-9084)AAC>AGC	p.N3028S		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3028	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)												0.46	162.347087	162.485631	46	54	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Missense_Mutation	SNP	145160657	145160657	17668	6	A	G	G	2	2	UTRN	G	4	4
UTRN	7402	broad.mit.edu	36	6	145199207	145199207	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:145199207C>T	uc003qkt.1	+	c.9902C>T	c.(9901-9903)TCG>TTG	p.S3301L		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3301					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)												0.561129	528.741168	529.778656	179	140	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Missense_Mutation	SNP	145199207	145199207	17668	6	C	T	T	31	31	UTRN	T	1	1
UTRN	7402	broad.mit.edu	36	6	145199341	145199341	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:145199341C>T	uc003qkt.1	+	c.10036C>T	c.(10036-10038)CTC>TTC	p.L3346F		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3346					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)												0.569231	109.512359	109.794019	37	28	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Missense_Mutation	SNP	145199341	145199341	17668	6	C	T	T	28	28	UTRN	T	2	2
EPM2A	7957	broad.mit.edu	36	6	146049063	146049063	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146049063A>G	uc003qkw.1	-	c.364T>C	c.(364-366)TAT>CAT	p.Y122H	EPM2A_uc003qkv.1_Missense_Mutation_p.Y122H|EPM2A_uc010khr.1_Missense_Mutation_p.Y122H|EPM2A_uc003qkx.1_5'UTR	NM_005670	NP_005661	O95278	EPM2A_HUMAN	laforin isoform a	122	CBM20.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Ovarian(120;0.162)												0.495575	190.481082	190.483085	56	57	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	Missense_Mutation	SNP	146049063	146049063	5376	6	A	G	G	14	14	EPM2A	G	4	4
SHPRH	257218	broad.mit.edu	36	6	146282236	146282236	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146282236G>A	uc003qld.1	-	c.4105C>T	c.(4105-4107)CGT>TGT	p.R1369C	SHPRH_uc010kht.1_Missense_Mutation_p.R1198C|SHPRH_uc003qle.1_Missense_Mutation_p.R1369C|SHPRH_uc003qlf.1_Missense_Mutation_p.R1365C|SHPRH_uc003qlg.1_Missense_Mutation_p.R921C|SHPRH_uc003qlh.2_Missense_Mutation_p.R290C|SHPRH_uc003qli.1_Missense_Mutation_p.R290C	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1365					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)												0.564748	416.929205	418.000856	157	121	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	Missense_Mutation	SNP	146282236	146282236	14786	6	G	A	A	38	38	SHPRH	A	1	1
SHPRH	257218	broad.mit.edu	36	6	146308396	146308396	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146308396G>T	uc003qld.1	-	c.1392C>A	c.(1390-1392)ATC>ATA	p.I464I	SHPRH_uc010kht.1_Silent_p.I297I|SHPRH_uc003qle.1_Silent_p.I464I|SHPRH_uc003qlf.1_Silent_p.I464I|SHPRH_uc003qlg.1_Silent_p.I20I|SHPRH_uc003qlj.1_Silent_p.I353I	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	464	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)												0.186047	41.712326	53.642282	24	105	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	Silent	SNP	146308396	146308396	14786	6	G	T	T	33	33	SHPRH	T	3	3
SHPRH	257218	broad.mit.edu	36	6	146317677	146317677	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146317677C>A	uc003qld.1	-	c.475G>T	c.(475-477)GAT>TAT	p.D159Y	SHPRH_uc010kht.1_5'UTR|SHPRH_uc003qle.1_Missense_Mutation_p.D159Y|SHPRH_uc003qlf.1_Missense_Mutation_p.D159Y|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.D48Y|SHPRH_uc003qlk.1_Missense_Mutation_p.D159Y	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	159					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)												0.575758	213.088127	213.744196	76	56	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	Missense_Mutation	SNP	146317677	146317677	14786	6	C	A	A	32	32	SHPRH	A	3	3
SHPRH	257218	broad.mit.edu	36	6	146317891	146317891	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146317891C>A	uc003qld.1	-	c.261G>T	c.(259-261)GAG>GAT	p.E87D	SHPRH_uc010kht.1_5'Flank|SHPRH_uc003qle.1_Missense_Mutation_p.E87D|SHPRH_uc003qlf.1_Missense_Mutation_p.E87D|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron|SHPRH_uc003qlk.1_Missense_Mutation_p.E87D	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	87					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)												0.191304	78.553029	99.057601	44	186	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	Missense_Mutation	SNP	146317891	146317891	14786	6	C	A	A	32	32	SHPRH	A	3	3
SASH1	23328	broad.mit.edu	36	6	148907426	148907426	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:148907426C>T	uc003qme.1	+	c.3127C>T	c.(3127-3129)CCT>TCT	p.P1043S	SASH1_uc003qmf.1_Missense_Mutation_p.P453S	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1043	Pro-rich.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)												0.418605	45.456029	45.699954	18	25	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	Missense_Mutation	SNP	148907426	148907426	14329	6	C	T	T	26	26	SASH1	T	2	2
SASH1	23328	broad.mit.edu	36	6	148911206	148911206	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:148911206C>A	uc003qme.1	+	c.3563C>A	c.(3562-3564)TCC>TAC	p.S1188Y	SASH1_uc003qmf.1_Missense_Mutation_p.S598Y	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1188	SAM 2.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)												0.529183	365.17418	365.363509	136	121	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	Missense_Mutation	SNP	148911206	148911206	14329	6	C	A	A	30	30	SASH1	A	3	3
UST	10090	broad.mit.edu	36	6	149304197	149304197	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:149304197G>T	uc003qmg.1	+	c.381G>T	c.(379-381)GAG>GAT	p.E127D		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	127	Lumenal (Potential).				carbohydrate biosynthetic process|protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)												0.283217	182.142698	194.225527	81	205	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	Missense_Mutation	SNP	149304197	149304197	17657	6	G	T	T	33	33	UST	T	3	3
UST	10090	broad.mit.edu	36	6	149316743	149316743	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:149316743T>G	uc003qmg.1	+	c.490T>G	c.(490-492)TTA>GTA	p.L164V		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	164	Lumenal (Potential).				carbohydrate biosynthetic process|protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)												0.701493	172.553836	174.986365	47	20	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	Missense_Mutation	SNP	149316743	149316743	17657	6	T	G	G	64	64	UST	G	4	4
TAB2	23118	broad.mit.edu	36	6	149740899	149740899	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:149740899G>T	uc003qmj.1	+	c.155G>T	c.(154-156)AGA>ATA	p.R52I	TAB2_uc010kia.1_Missense_Mutation_p.R52I|TAB2_uc010kib.1_Missense_Mutation_p.R52I|TAB2_uc003qmk.2_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	52					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|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 NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0										127				0.327731	96.874865	100.011541	39	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149740899	149740899	16017	6	G	T	T	33	33	TAB2	T	3	3
KATNA1	11104	broad.mit.edu	36	6	149964501	149964501	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:149964501G>T	uc003qmr.1	-	c.810C>A	c.(808-810)TTC>TTA	p.F270L	KATNA1_uc003qms.2_Missense_Mutation_p.F270L|KATNA1_uc003qmt.2_Missense_Mutation_p.F194L	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	270					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)												0.307143	101.056651	105.708897	43	97	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	Missense_Mutation	SNP	149964501	149964501	8288	6	G	T	T	33	33	KATNA1	T	3	3
KATNA1	11104	broad.mit.edu	36	6	150001259	150001259	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150001259G>A	uc003qmr.1	-	c.118C>T	c.(118-120)CTG>TTG	p.L40L	KATNA1_uc003qms.2_Silent_p.L40L|KATNA1_uc003qmt.2_Silent_p.L40L	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	40	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)												0.249315	222.344007	243.205714	91	274	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	Silent	SNP	150001259	150001259	8288	6	G	A	A	33	33	KATNA1	A	2	2
LATS1	9113	broad.mit.edu	36	6	150046029	150046029	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150046029C>T	uc003qmu.1	-	c.1889G>A	c.(1888-1890)CGT>CAT	p.R630H	LATS1_uc010kif.1_Missense_Mutation_p.R525H|LATS1_uc003qmw.2_Missense_Mutation_p.R630H|LATS1_uc010kig.1_Missense_Mutation_p.R525H|LATS1_uc003qmv.1_Missense_Mutation_p.R630H	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	630	Interaction with YAP1.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|protein phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)								149				0.17037	39.137245	53.01949	23	112	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	Missense_Mutation	SNP	150046029	150046029	8969	6	C	T	T	19	19	LATS1	T	1	1
LATS1	9113	broad.mit.edu	36	6	150046311	150046311	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150046311G>T	uc003qmu.1	-	c.1607C>A	c.(1606-1608)ACC>AAC	p.T536N	LATS1_uc010kif.1_Missense_Mutation_p.T431N|LATS1_uc003qmw.2_Missense_Mutation_p.T536N|LATS1_uc010kig.1_Missense_Mutation_p.T431N|LATS1_uc003qmv.1_Missense_Mutation_p.T536N	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	536	Interaction with YAP1.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|protein phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)								149				0.296137	178.369746	187.039836	69	164	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	Missense_Mutation	SNP	150046311	150046311	8969	6	G	T	T	44	44	LATS1	T	3	3
LATS1	9113	broad.mit.edu	36	6	150047170	150047170	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150047170G>A	uc003qmu.1	-	c.748C>T	c.(748-750)CCT>TCT	p.P250S	LATS1_uc010kif.1_Missense_Mutation_p.P145S|LATS1_uc003qmw.2_Missense_Mutation_p.P250S|LATS1_uc010kig.1_Missense_Mutation_p.P145S|LATS1_uc003qmv.1_Missense_Mutation_p.P250S	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	250					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|protein phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)							p.P145S(NCIH2227-Tumor)	149				0.267101	186.388255	201.44761	82	225	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	Missense_Mutation	SNP	150047170	150047170	8969	6	G	A	A	44	44	LATS1	A	2	2
LRP11	84918	broad.mit.edu	36	6	150215908	150215908	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150215908C>T	uc003qng.1	-	c.695G>A	c.(694-696)CGC>CAC	p.R232H	LRP11_uc003qnh.1_Missense_Mutation_p.R232H	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	232	PKD.|Extracellular (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)												0.546154	199.822415	200.063106	71	59	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	Missense_Mutation	SNP	150215908	150215908	9326	6	C	T	T	27	27	LRP11	T	1	1
RAET1E	135250	broad.mit.edu	36	6	150252182	150252182	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150252182G>A	uc003qnl.1	-	c.617C>T	c.(616-618)CCG>CTG	p.P206L	RAET1E_uc003qnj.2_Missense_Mutation_p.P206L|RAET1E_uc003qnk.1_Missense_Mutation_p.P170L|RAET1E_uc010kih.1_Non-coding_Transcript	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	206	Extracellular (Potential).|MHC class I alpha-2 like.				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)												0.262774	85.690017	92.632115	36	101	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	Missense_Mutation	SNP	150252182	150252182	13459	6	G	A	A	39	39	RAET1E	A	1	1
RAET1E	135250	broad.mit.edu	36	6	150252885	150252885	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150252885T>G	uc003qnl.1	-	c.175A>C	c.(175-177)AAT>CAT	p.N59H	RAET1E_uc003qnj.2_Missense_Mutation_p.N59H|RAET1E_uc003qnk.1_Intron|RAET1E_uc010kih.1_Non-coding_Transcript	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	59	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)												0.317073	117.485056	121.142424	39	84	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	Missense_Mutation	SNP	150252885	150252885	13459	6	T	G	G	64	64	RAET1E	G	4	4
RAET1L	154064	broad.mit.edu	36	6	150383757	150383757	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150383757C>T	uc003qnr.2	-	c.608G>A	c.(607-609)AGC>AAC	p.S203N		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	203	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex					0		Ovarian(120;0.028)												0.258964	155.952148	169.16818	65	186	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)	Missense_Mutation	SNP	150383757	150383757	13461	6	C	T	T	28	28	RAET1L	T	2	2
RAET1L	154064	broad.mit.edu	36	6	150383900	150383900	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150383900C>A	uc003qnr.2	-	c.465G>T	c.(463-465)AAG>AAT	p.K155N		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	155	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex					0		Ovarian(120;0.028)												0.27972	182.146949	194.648119	80	206	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)	Missense_Mutation	SNP	150383900	150383900	13461	6	C	A	A	32	32	RAET1L	A	3	3
AKAP12	9590	broad.mit.edu	36	6	151713525	151713525	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:151713525G>T	uc003qoe.1	+	c.2306G>T	c.(2305-2307)AGA>ATA	p.R769I	AKAP12_uc003qof.1_Missense_Mutation_p.R671I|AKAP12_uc010kim.1_Intron|AKAP12_uc003qog.1_Missense_Mutation_p.R664I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	769	AKAP 2.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7		Ovarian(120;0.125)				Melanoma(141;1616 1805 10049 24534 51979)				196				0.265152	153.69437	166.883869	70	194	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	Missense_Mutation	SNP	151713525	151713525	451	6	G	T	T	33	33	AKAP12	T	3	3
ZBTB2	57621	broad.mit.edu	36	6	151729026	151729026	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:151729026G>A	uc003qoh.1	-	c.868C>T	c.(868-870)CGC>TGC	p.R290C		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.639831	435.521134	439.572145	151	85	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	Missense_Mutation	SNP	151729026	151729026	18114	6	G	A	A	37	37	ZBTB2	A	1	1
C6orf97	80129	broad.mit.edu	36	6	151980919	151980919	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:151980919G>T	uc003qol.1	+	c.2092G>T	c.(2092-2094)GAT>TAT	p.D698Y		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	698											0		Ovarian(120;0.126)								349				0.264865	109.674795	118.932934	49	136	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	Missense_Mutation	SNP	151980919	151980919	2481	6	G	T	T	33	33	C6orf97	T	3	3
ESR1	2099	broad.mit.edu	36	6	152457273	152457273	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:152457273G>A	uc010kio.1	+	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q	ESR1_uc003qom.2_Missense_Mutation_p.R477Q|ESR1_uc010kin.1_Missense_Mutation_p.R477Q|ESR1_uc010kip.1_Missense_Mutation_p.R476Q|ESR1_uc003qon.2_Missense_Mutation_p.R477Q|ESR1_uc003qoo.2_Missense_Mutation_p.R477Q|ESR1_uc010kiq.1_Missense_Mutation_p.R75Q|ESR1_uc010kir.1_Missense_Mutation_p.R216Q|ESR1_uc010kiu.1_Intron	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	477	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)	2		Ovarian(120;0.0448)			Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)					249				0.317536	171.364422	177.602417	67	144	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Missense_Mutation	SNP	152457273	152457273	5449	6	G	A	A	37	37	ESR1	A	1	1
SYNE1	23345	broad.mit.edu	36	6	152542982	152542982	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:152542982C>T	uc010kiw.1	-	c.23442G>A	c.(23440-23442)ATG>ATA	p.M7814I	SYNE1_uc003qor.2_Missense_Mutation_p.M714I|SYNE1_uc010kiv.1_Missense_Mutation_p.M2338I|SYNE1_uc003qos.2_Missense_Mutation_p.M2338I|SYNE1_uc003qot.2_Missense_Mutation_p.M7743I|SYNE1_uc003qou.2_Missense_Mutation_p.M7814I|SYNE1_uc003qop.2_5'Flank|SYNE1_uc003qoq.2_Missense_Mutation_p.M16I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7814	Spectrin 27.|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)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)												0.208633	59.488034	70.424653	29	110	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	Missense_Mutation	SNP	152542982	152542982	15966	6	C	T	T	29	29	SYNE1	T	2	2
SYNE1	23345	broad.mit.edu	36	6	152673648	152673648	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:152673648C>T	uc010kiw.1	-	c.16764G>A	c.(16762-16764)GAG>GAA	p.E5588E	SYNE1_uc010kiv.1_Silent_p.E112E|SYNE1_uc003qos.2_Silent_p.E112E|SYNE1_uc003qot.2_Silent_p.E5517E|SYNE1_uc003qou.2_Silent_p.E5588E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5588	Spectrin 17.|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)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)												0.203125	29.235635	34.475865	13	51	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	Silent	SNP	152673648	152673648	15966	6	C	T	T	32	32	SYNE1	T	2	2
SYNE1	23345	broad.mit.edu	36	6	152694559	152694559	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:152694559C>T	uc010kiw.1	-	c.12954G>A	c.(12952-12954)ACG>ACA	p.T4318T	SYNE1_uc003qot.2_Silent_p.T4247T|SYNE1_uc003qou.2_Silent_p.T4318T|SYNE1_uc010kiz.1_Silent_p.T73T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4318	Cytoplasmic (Potential).|Spectrin 12.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)												0.242152	121.731644	135.259877	54	169	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	Silent	SNP	152694559	152694559	15966	6	C	T	T	31	31	SYNE1	T	1	1
SYNE1	23345	broad.mit.edu	36	6	152818340	152818340	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:152818340G>A	uc010kiw.1	-	c.2806C>T	c.(2806-2808)CGA>TGA	p.R936*	SYNE1_uc003qot.2_Nonsense_Mutation_p.R943*|SYNE1_uc003qou.2_Nonsense_Mutation_p.R936*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.R919*|SYNE1_uc003qox.1_Nonsense_Mutation_p.R452*|SYNE1_uc003qoz.2_Nonsense_Mutation_p.R368*|SYNE1_uc003qoy.2_Nonsense_Mutation_p.R503*|SYNE1_uc003qow.2_Nonsense_Mutation_p.R231*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	936	Potential.|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)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)												0.281081	125.350118	133.302726	52	133	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	Nonsense_Mutation	SNP	152818340	152818340	15966	6	G	A	A	37	37	SYNE1	A	5	1
SYNE1	23345	broad.mit.edu	36	6	152835164	152835164	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:152835164T>C	uc010kiw.1	-	c.1428A>G	c.(1426-1428)CCA>CCG	p.P476P	SYNE1_uc003qot.2_Silent_p.P483P|SYNE1_uc003qou.2_Silent_p.P476P|SYNE1_uc010kjb.1_Silent_p.P459P|SYNE1_uc003qox.1_5'UTR|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.P43P|SYNE1_uc003qpa.1_Silent_p.P476P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	476	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)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)												0.18705	64.069406	76.817138	26	113	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	Silent	SNP	152835164	152835164	15966	6	T	C	C	55	55	SYNE1	C	4	4
MYCT1	80177	broad.mit.edu	36	6	153060863	153060863	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:153060863C>T	uc003qpd.2	+	c.133C>T	c.(133-135)CTT>TTT	p.L45F	MYCT1_uc010kjc.1_Missense_Mutation_p.L45F|MYCT1_uc003qpc.2_Missense_Mutation_p.L45F	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	45						nucleus				ovary(1)	1		Ovarian(120;0.0654)												0.37037	114.367847	115.964192	40	68	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	Missense_Mutation	SNP	153060863	153060863	10417	6	C	T	T	32	32	MYCT1	T	2	2
OPRM1	4988	broad.mit.edu	36	6	154453929	154453929	+	Missense_Mutation	SNP	C	T	T	rs17174822	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:154453929C>T	uc003qpq.1	+	c.979C>T	c.(979-981)CGC>TGC	p.R327C	OPRM1_uc003qpn.1_Missense_Mutation_p.R265C|OPRM1_uc003qpo.1_Missense_Mutation_p.R265C|OPRM1_uc003qpp.1_Non-coding_Transcript|OPRM1_uc010kjf.1_Missense_Mutation_p.R327C|OPRM1_uc003qpr.1_Missense_Mutation_p.R265C|OPRM1_uc003qps.1_Non-coding_Transcript|OPRM1_uc003qpt.1_Missense_Mutation_p.R265C|OPRM1_uc010kjg.1_Missense_Mutation_p.R165C|OPRM1_uc003qpu.1_Missense_Mutation_p.R165C	NM_001008504	NP_001008504	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1A	265	Cytoplasmic (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)			Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)									0.280822	103.011616	109.318735	41	105	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Missense_Mutation	SNP	154453929	154453929	11293	6	C	T	T	23	23	OPRM1	T	1	1
CNKSR3	154043	broad.mit.edu	36	6	154777232	154777232	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:154777232C>T	uc003qpy.1	-	c.963G>A	c.(961-963)GCG>GCA	p.A321A		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	321					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)	3		Ovarian(120;0.196)												0.253425	86.806932	94.865327	37	109	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	Silent	SNP	154777232	154777232	3746	6	C	T	T	31	31	CNKSR3	T	1	1
RBM16	22828	broad.mit.edu	36	6	155150712	155150712	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:155150712G>A	uc003qqa.1	+	c.185G>A	c.(184-186)GGA>GAA	p.G62E	RBM16_uc003qpz.1_Missense_Mutation_p.G62E|RBM16_uc010kji.1_Missense_Mutation_p.G83E	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	62	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)												0.281437	119.047864	126.221307	47	120	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	Missense_Mutation	SNP	155150712	155150712	13579	6	G	A	A	41	41	RBM16	A	2	2
RBM16	22828	broad.mit.edu	36	6	155155664	155155664	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:155155664G>T	uc003qqa.1	+	c.337G>T	c.(337-339)GTA>TTA	p.V113L	RBM16_uc003qpz.1_Missense_Mutation_p.V113L|RBM16_uc010kji.1_Missense_Mutation_p.V134L	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	113	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)												0.272	84.087755	89.95119	34	91	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	Missense_Mutation	SNP	155155664	155155664	13579	6	G	T	T	36	36	RBM16	T	3	3
TIAM2	26230	broad.mit.edu	36	6	155500173	155500173	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:155500173G>A	uc003qqb.1	+	c.1365G>A	c.(1363-1365)CGG>CGA	p.R455R	TIAM2_uc003qqd.1_Silent_p.R455R|TIAM2_uc003qqe.1_Silent_p.R455R|TIAM2_uc010kjj.1_5'UTR	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	455					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)												0.589958	414.305443	416.000309	141	98	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	Silent	SNP	155500173	155500173	16419	6	G	A	A	42	42	TIAM2	A	2	2
FOXC1	2296	broad.mit.edu	36	6	1555931	1555931	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:1555931C>T	uc003mtp.1	+	c.252C>T	c.(250-252)ATC>ATT	p.I84I		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	84	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|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	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)				Pancreas(133;719 1821 3197 26645 35015)								0.299213	90.189469	94.77241	38	89	CC		KEEP	---	---	---	---	capture		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	Silent	SNP	1555931	1555931	6236	6	C	T	T	31	31	FOXC1	T	1	1
TIAM2	26230	broad.mit.edu	36	6	155603419	155603419	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:155603419G>T	uc003qqb.1	+	c.3232G>T	c.(3232-3234)GGA>TGA	p.G1078*	TIAM2_uc003qqd.1_Nonsense_Mutation_p.G1078*|TIAM2_uc003qqe.1_Nonsense_Mutation_p.G1078*|TIAM2_uc010kjj.1_Nonsense_Mutation_p.G611*|TIAM2_uc003qqf.1_Nonsense_Mutation_p.G454*|TIAM2_uc003qqg.1_Nonsense_Mutation_p.G390*|TIAM2_uc003qqh.1_Nonsense_Mutation_p.G3*	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1078					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)												0.298387	87.805299	92.324601	37	87	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	Nonsense_Mutation	SNP	155603419	155603419	16419	6	G	T	T	35	35	TIAM2	T	5	3
JARID2	3720	broad.mit.edu	36	6	15560364	15560364	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:15560364C>A	uc003nbj.1	+	c.472C>A	c.(472-474)CTT>ATT	p.L158I		NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	158					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)								694				0.256579	85.219351	93.416765	39	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15560364	15560364	8249	6	C	A	A	32	32	JARID2	A	3	3
TIAM2	26230	broad.mit.edu	36	6	155608473	155608473	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:155608473T>G	uc003qqb.1	+	c.3568T>G	c.(3568-3570)TCT>GCT	p.S1190A	TIAM2_uc003qqd.1_Missense_Mutation_p.S1190A|TIAM2_uc003qqe.1_Missense_Mutation_p.S1190A|TIAM2_uc010kjj.1_Missense_Mutation_p.S723A|TIAM2_uc003qqf.1_Missense_Mutation_p.S566A|TIAM2_uc003qqg.1_Missense_Mutation_p.S502A|TIAM2_uc003qqh.1_Missense_Mutation_p.S115A	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1190	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)												0.269076	341.388882	365.389131	134	364	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	Missense_Mutation	SNP	155608473	155608473	16419	6	T	G	G	54	54	TIAM2	G	4	4
CLDN20	49861	broad.mit.edu	36	6	155639005	155639005	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:155639005G>T	uc003qql.1	+	c.460G>T	c.(460-462)GAA>TAA	p.E154*	TFB1M_uc003qqj.2_Intron|TFB1M_uc003qqk.2_Intron|CLDN20_uc010kjk.1_Nonsense_Mutation_p.E154*	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	claudin 20	154	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.648276	271.161101	273.964857	94	51	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)	Nonsense_Mutation	SNP	155639005	155639005	3618	6	G	T	T	33	33	CLDN20	T	5	3
JARID2	3720	broad.mit.edu	36	6	15609601	15609601	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:15609601C>A	uc003nbj.1	+	c.2430C>A	c.(2428-2430)TTC>TTA	p.F810L		NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	810					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)								694				0.6	75.515274	75.906018	27	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15609601	15609601	8249	6	C	A	A	30	30	JARID2	A	3	3
JARID2	3720	broad.mit.edu	36	6	15620453	15620453	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:15620453G>T	uc003nbj.1	+	c.2988G>T	c.(2986-2988)AAG>AAT	p.K996N		NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	996	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)								694				0.258427	50.274689	54.987911	23	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15620453	15620453	8249	6	G	T	T	35	35	JARID2	T	3	3
JARID2	3720	broad.mit.edu	36	6	15621561	15621561	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:15621561C>T	uc003nbj.1	+	c.3379C>T	c.(3379-3381)CGA>TGA	p.R1127*		NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1127					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)								694				0.257143	21.357098	23.229543	9	26	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	15621561	15621561	8249	6	C	T	T	31	31	JARID2	T	5	1
GMDS	2762	broad.mit.edu	36	6	1569438	1569438	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:1569438C>T	uc003mtq.1	-	c.1084G>A	c.(1084-1086)GAC>AAC	p.D362N		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	362					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion	cytoplasm	coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)												0.318182	50.926063	52.881048	21	45	CC		KEEP	---	---	---	---	capture		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	Missense_Mutation	SNP	1569438	1569438	6755	6	C	T	T	31	31	GMDS	T	1	1
SYNJ2	8871	broad.mit.edu	36	6	158407574	158407574	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158407574C>T	uc003qqx.1	+	c.1636C>T	c.(1636-1638)CGG>TGG	p.R546W	SYNJ2_uc003qqw.1_Missense_Mutation_p.R546W|SYNJ2_uc003qqy.1_Missense_Mutation_p.R306W|SYNJ2_uc010kjo.1_Missense_Mutation_p.R495W|SYNJ2_uc003qqz.1_Missense_Mutation_p.R163W	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	546	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1														0.15566	56.93222	80.963047	33	179	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	Missense_Mutation	SNP	158407574	158407574	15974	6	C	T	T	23	23	SYNJ2	T	1	1
SYNJ2	8871	broad.mit.edu	36	6	158417787	158417787	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158417787C>T	uc003qqx.1	+	c.2434C>T	c.(2434-2436)CCC>TCC	p.P812S	SYNJ2_uc003qqw.1_Missense_Mutation_p.P812S|SYNJ2_uc003qqy.1_Missense_Mutation_p.P572S|SYNJ2_uc003qqz.1_Missense_Mutation_p.P429S|SYNJ2_uc003qra.1_Missense_Mutation_p.P155S	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	812	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1														0.153846	22.887331	33.317394	14	77	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	Missense_Mutation	SNP	158417787	158417787	15974	6	C	T	T	30	30	SYNJ2	T	2	2
SYNJ2	8871	broad.mit.edu	36	6	158422277	158422277	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158422277G>A	uc003qqx.1	+	c.2716G>A	c.(2716-2718)GAG>AAG	p.E906K	SYNJ2_uc003qqw.1_Missense_Mutation_p.E906K|SYNJ2_uc003qqy.1_Missense_Mutation_p.E666K|SYNJ2_uc003qqz.1_Missense_Mutation_p.E523K|SYNJ2_uc003qra.1_Missense_Mutation_p.E249K	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	906	Catalytic (By similarity).|RRM.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1														0.218289	157.794845	182.575218	74	265	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	Missense_Mutation	SNP	158422277	158422277	15974	6	G	A	A	37	37	SYNJ2	A	1	1
SYNJ2	8871	broad.mit.edu	36	6	158437259	158437259	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158437259G>A	uc003qqx.1	+	c.4366G>A	c.(4366-4368)GCT>ACT	p.A1456T	SYNJ2_uc003qqy.1_Missense_Mutation_p.A1216T|SYNJ2_uc003qqz.1_Missense_Mutation_p.A1073T|SYNJ2_uc003qra.1_Missense_Mutation_p.A799T|SYNJ2_uc010kjp.1_Missense_Mutation_p.A339T	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1456	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1														0.685714	195.424406	198.67813	72	33	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	Missense_Mutation	SNP	158437259	158437259	15974	6	G	A	A	38	38	SYNJ2	A	1	1
TULP4	56995	broad.mit.edu	36	6	158655140	158655140	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158655140T>C	uc003qrf.1	+	c.104T>C	c.(103-105)GTG>GCG	p.V35A	TULP4_uc003qrg.1_Missense_Mutation_p.V35A	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	35					intracellular signal transduction|regulation of transcription, DNA-dependent|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)												0.673267	213.813606	216.500413	68	33	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	Missense_Mutation	SNP	158655140	158655140	17331	6	T	C	C	59	59	TULP4	C	4	4
TULP4	56995	broad.mit.edu	36	6	158790034	158790034	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158790034G>A	uc003qrf.1	+	c.562G>A	c.(562-564)GAT>AAT	p.D188N	TULP4_uc003qrg.1_Missense_Mutation_p.D188N	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	188	WD 3.				intracellular signal transduction|regulation of transcription, DNA-dependent|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)												0.185841	38.50654	48.963548	21	92	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	Missense_Mutation	SNP	158790034	158790034	17331	6	G	A	A	37	37	TULP4	A	1	1
TMEM181	57583	broad.mit.edu	36	6	158966757	158966757	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158966757C>T	uc003qrm.2	+	c.1503C>T	c.(1501-1503)TTC>TTT	p.F501F	TMEM181_uc010kjr.1_Silent_p.F332F	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	501	Helical; (Potential).				pathogenesis	integral to membrane	toxin binding			ovary(2)	2		Breast(66;0.000776)|Ovarian(120;0.0303)												0.218182	52.041597	60.094198	24	86	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	Silent	SNP	158966757	158966757	16634	6	C	T	T	31	31	TMEM181	T	1	1
SYTL3	94120	broad.mit.edu	36	6	159093000	159093000	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:159093000A>G	uc003qrp.1	+	c.1087A>G	c.(1087-1089)ACT>GCT	p.T363A	SYTL3_uc003qro.1_Missense_Mutation_p.T295A|SYTL3_uc003qrq.1_Missense_Mutation_p.T295A|SYTL3_uc003qrr.1_Missense_Mutation_p.T363A|SYTL3_uc003qrs.1_Missense_Mutation_p.T295A	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	363	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding|zinc ion binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)												0.176471	38.043401	48.18596	18	84	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	Missense_Mutation	SNP	159093000	159093000	16005	6	A	G	G	10	10	SYTL3	G	4	4
RSPH3	83861	broad.mit.edu	36	6	159340542	159340542	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:159340542G>T	uc003qrx.1	-	c.455C>A	c.(454-456)TCT>TAT	p.S152Y	RSPH3_uc010kju.1_Missense_Mutation_p.S152Y|RSPH3_uc003qry.1_Missense_Mutation_p.S152Y	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	152										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)												0.276119	76.761816	82.853036	37	97	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	Missense_Mutation	SNP	159340542	159340542	14185	6	G	T	T	33	33	RSPH3	T	3	3
TAGAP	117289	broad.mit.edu	36	6	159381788	159381788	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:159381788G>T	uc003qrz.1	-	c.542C>A	c.(541-543)GCT>GAT	p.A181D	TAGAP_uc003qsa.1_Missense_Mutation_p.A3D|TAGAP_uc003qsb.1_Missense_Mutation_p.A181D	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	181	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)												0.616915	354.567399	356.9635	124	77	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	Missense_Mutation	SNP	159381788	159381788	16058	6	G	T	T	34	34	TAGAP	T	3	3
PNLDC1	154197	broad.mit.edu	36	6	160145628	160145628	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160145628G>A	uc003qsy.1	+	c.430G>A	c.(430-432)GAT>AAT	p.D144N	PNLDC1_uc003qsx.1_Missense_Mutation_p.D133N	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	133	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)												0.296296	80.960794	84.967386	32	76	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	Missense_Mutation	SNP	160145628	160145628	12574	6	G	A	A	37	37	PNLDC1	A	1	1
IGF2R	3482	broad.mit.edu	36	6	160446084	160446084	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160446084A>G	uc003qta.1	+	c.7454A>G	c.(7453-7455)GAC>GGC	p.D2485G		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2485	Cytoplasmic (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)												0.423077	35.722939	35.856638	11	15	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Missense_Mutation	SNP	160446084	160446084	7877	6	A	G	G	10	10	IGF2R	G	4	4
SLC22A1	6580	broad.mit.edu	36	6	160480807	160480807	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160480807C>T	uc003qtc.1	+	c.1194C>T	c.(1192-1194)GAC>GAT	p.D398D	SLC22A1_uc003qtd.1_Silent_p.D398D	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	398	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)												0.277778	79.713503	85.358039	35	91	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Silent	SNP	160480807	160480807	14936	6	C	T	T	18	18	SLC22A1	T	2	2
SLC22A2	6582	broad.mit.edu	36	6	160583410	160583410	+	Missense_Mutation	SNP	T	G	G	rs8177517	by-cluster,by-frequency,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160583410T>G	uc003qte.1	-	c.1294A>C	c.(1294-1296)AAA>CAA	p.K432Q	SLC22A2_uc003qtf.1_Missense_Mutation_p.K432Q	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	432	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)												0.271186	114.086215	122.473226	48	129	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Missense_Mutation	SNP	160583410	160583410	14947	6	T	G	G	64	64	SLC22A2	G	4	4
SLC22A2	6582	broad.mit.edu	36	6	160597652	160597652	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160597652C>T	uc003qte.1	-	c.502G>A	c.(502-504)GGC>AGC	p.G168S	SLC22A2_uc003qtf.1_Missense_Mutation_p.G168S|SLC22A2_uc003qth.1_Missense_Mutation_p.G168S	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	168	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)												0.559322	437.626382	438.349578	132	104	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Missense_Mutation	SNP	160597652	160597652	14947	6	C	T	T	23	23	SLC22A2	T	1	1
LPA	4018	broad.mit.edu	36	6	160919590	160919590	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160919590G>A	uc003qtl.1	-	c.4426C>T	c.(4426-4428)CCC>TCC	p.P1476S		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3984	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)			Aminocaproic Acid(DB00513)									0.2891	151.285026	159.701796	61	150	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Missense_Mutation	SNP	160919590	160919590	9276	6	G	A	A	41	41	LPA	A	2	2
LPA	4018	broad.mit.edu	36	6	160927489	160927489	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160927489C>A	uc003qtl.1	-	c.4111G>T	c.(4111-4113)GAG>TAG	p.E1371*		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3879	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)			Aminocaproic Acid(DB00513)									0.258065	84.320085	92.550244	40	115	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Nonsense_Mutation	SNP	160927489	160927489	9276	6	C	A	A	32	32	LPA	A	5	3
LPA	4018	broad.mit.edu	36	6	160930674	160930674	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160930674C>T	uc003qtl.1	-	c.3848G>A	c.(3847-3849)CGA>CAA	p.R1283Q		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3791	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)			Aminocaproic Acid(DB00513)									0.28169	96.836496	102.920726	40	102	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Missense_Mutation	SNP	160930674	160930674	9276	6	C	T	T	31	31	LPA	T	1	1
LPA	4018	broad.mit.edu	36	6	160947620	160947620	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160947620C>T	uc003qtl.1	-	c.2664G>A	c.(2662-2664)ACG>ACA	p.T888T		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3396	Kringle 30.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)			Aminocaproic Acid(DB00513)									0.236422	161.78959	181.674087	74	239	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Silent	SNP	160947620	160947620	9276	6	C	T	T	31	31	LPA	T	1	1
PLG	5340	broad.mit.edu	36	6	161054128	161054128	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:161054128C>T	uc003qtm.2	+	c.528C>T	c.(526-528)TGC>TGT	p.C176C		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	176	Kringle 1.				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			ovary(1)	1					Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)									0.247312	154.929694	171.154045	69	210	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Silent	SNP	161054128	161054128	12512	6	C	T	T	27	27	PLG	T	1	1
AGPAT4	56895	broad.mit.edu	36	6	161507409	161507409	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:161507409C>T	uc003qtr.1	-	c.209G>A	c.(208-210)GGC>GAC	p.G70D	AGPAT4_uc003qts.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	70					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)												0.281818	70.574158	75.283248	31	79	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	Missense_Mutation	SNP	161507409	161507409	392	6	C	T	T	26	26	AGPAT4	T	2	2
QKI	9444	broad.mit.edu	36	6	163756231	163756231	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:163756231G>A	uc003qui.1	+	c.16G>A	c.(16-18)GAA>AAA	p.E6K	QKI_uc003que.1_Missense_Mutation_p.E6K|QKI_uc003quf.1_Missense_Mutation_p.E6K|QKI_uc003qug.1_Missense_Mutation_p.E6K|QKI_uc003quh.1_Missense_Mutation_p.E6K|QKI_uc003quj.1_Missense_Mutation_p.E6K	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	6					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)												0.324324	62.572289	64.60034	24	50	GG		KEEP	---	---	---	---	capture		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	Missense_Mutation	SNP	163756231	163756231	13331	6	G	A	A	41	41	QKI	A	2	2
QKI	9444	broad.mit.edu	36	6	163903093	163903093	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:163903093T>C	uc003qui.1	+	c.634_splice	c.e5+2	p.P212_splice	QKI_uc003que.1_Splice_Site_SNP_p.P212_splice|QKI_uc003quf.1_Splice_Site_SNP_p.P212_splice|QKI_uc003qug.1_Splice_Site_SNP_p.P212_splice|QKI_uc003quh.1_Splice_Site_SNP_p.P212_splice|QKI_uc003quj.1_Splice_Site_SNP_p.P212_splice	NM_006775	NP_006766			quaking homolog, KH domain RNA binding isoform						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)												0.369231	78.890767	79.864616	24	41	TT		KEEP	---	---	---	---	capture		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	Splice_Site_SNP	SNP	163903093	163903093	13331	6	T	C	C	57	57	QKI	C	5	4
ATXN1	6310	broad.mit.edu	36	6	16415068	16415068	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:16415068A>C	uc003nbt.1	-	c.1919T>G	c.(1918-1920)GTC>GGC	p.V640G	ATXN1_uc010jpi.1_Missense_Mutation_p.V640G|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	ataxin 1	640	Interaction with USP7.|RNA-binding.|AXH.				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|transcription repressor activity			central_nervous_system(1)	1	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)												0.302158	130.309455	135.159714	42	97	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16415068	16415068	1228	6	A	C	C	10	10	ATXN1	C	4	4
T	6862	broad.mit.edu	36	6	166491855	166491855	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:166491855C>T	uc003qut.1	-	c.1249G>A	c.(1249-1251)GAC>AAC	p.D417N	T_uc003quu.1_Missense_Mutation_p.D416N|T_uc003quv.1_Missense_Mutation_p.D358N	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	416					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)												0.277311	149.142421	159.771854	66	172	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	Missense_Mutation	SNP	166491855	166491855	16009	6	C	T	T	31	31	T	T	1	1
RPS6KA2	6196	broad.mit.edu	36	6	166792939	166792939	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:166792939G>A	uc003qvd.1	-	c.1138C>T	c.(1138-1140)CGG>TGG	p.R380W	RPS6KA2_uc010kkl.1_Missense_Mutation_p.R266W|RPS6KA2_uc003qvb.1_Missense_Mutation_p.R355W|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R363W	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	355	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)								997				0.274194	39.349687	42.197133	17	45	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	Missense_Mutation	SNP	166792939	166792939	14131	6	G	A	A	38	38	RPS6KA2	A	1	1
CCR6	1235	broad.mit.edu	36	6	167470080	167470080	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167470080C>T	uc003qvl.1	+	c.372C>T	c.(370-372)ATC>ATT	p.I124I	CCR6_uc010kkm.1_Silent_p.I124I|CCR6_uc003qvn.2_Silent_p.I124I|CCR6_uc003qvm.2_Silent_p.I124I	NM_031409	NP_113597	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	124	Helical; Name=3; (Potential).				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			ovary(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.0606)								4				0.248731	124.47317	135.789471	49	148	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	Silent	SNP	167470080	167470080	3072	6	C	T	T	32	32	CCR6	T	2	2
CCR6	1235	broad.mit.edu	36	6	167470540	167470540	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167470540G>A	uc003qvl.1	+	c.832G>A	c.(832-834)GCT>ACT	p.A278T	CCR6_uc010kkm.1_Missense_Mutation_p.A278T|CCR6_uc003qvn.2_Missense_Mutation_p.A278T|CCR6_uc003qvm.2_Missense_Mutation_p.A278T	NM_031409	NP_113597	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	278	Helical; Name=6; (Potential).				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			ovary(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.0606)								4				0.295	144.744234	152.266708	59	141	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	Missense_Mutation	SNP	167470540	167470540	3072	6	G	A	A	42	42	CCR6	A	2	2
UNC93A	54346	broad.mit.edu	36	6	167641260	167641260	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167641260C>T	uc003qvq.1	+	c.980C>T	c.(979-981)GCG>GTG	p.A327V	UNC93A_uc003qvr.1_Missense_Mutation_p.A285V	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	327	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)												0.25	82.145879	91.015555	39	117	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	Missense_Mutation	SNP	167641260	167641260	17555	6	C	T	T	27	27	UNC93A	T	1	1
UNC93A	54346	broad.mit.edu	36	6	167648774	167648774	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167648774C>T	uc003qvq.1	+	c.1218C>T	c.(1216-1218)TGC>TGT	p.C406C	UNC93A_uc003qvr.1_Silent_p.C364C	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	406	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)												0.64823	862.102436	870.902117	293	159	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	Silent	SNP	167648774	167648774	17555	6	C	T	T	27	27	UNC93A	T	1	1
TTLL2	83887	broad.mit.edu	36	6	167672184	167672184	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167672184C>A	uc003qvs.1	+	c.107C>A	c.(106-108)ACT>AAT	p.T36N		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	36					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)												0.24359	39.881465	44.561095	19	59	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	Missense_Mutation	SNP	167672184	167672184	17282	6	C	A	A	20	20	TTLL2	A	3	3
TTLL2	83887	broad.mit.edu	36	6	167673924	167673924	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167673924C>T	uc003qvs.1	+	c.546C>T	c.(544-546)TTC>TTT	p.F182F		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	182	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)												0.283784	103.484186	109.700067	42	106	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	Silent	SNP	167673924	167673924	17282	6	C	T	T	31	31	TTLL2	T	1	1
TTLL2	83887	broad.mit.edu	36	6	167674440	167674440	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167674440C>T	uc003qvs.1	+	c.1062C>T	c.(1060-1062)CTC>CTT	p.L354L		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	354	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)												0.269147	291.806375	313.802718	123	334	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	Silent	SNP	167674440	167674440	17282	6	C	T	T	31	31	TTLL2	T	1	1
MLLT4	4301	broad.mit.edu	36	6	168058831	168058831	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:168058831G>A	uc003qwd.1	+	c.2410G>A	c.(2410-2412)GAC>AAC	p.D804N	MLLT4_uc003qwb.1_Missense_Mutation_p.D789N|MLLT4_uc003qwc.1_Missense_Mutation_p.D805N|MLLT4_uc003qwg.1_Missense_Mutation_p.D114N	NM_001040001	NP_001035090	E9PHS7	E9PHS7_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	805					signal transduction					ovary(2)|kidney(1)|central_nervous_system(1)	4		Breast(66;1.07e-05)|Ovarian(120;0.024)								1250				0.60177	199.010605	200.033958	68	45	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	168058831	168058831	10019	6	G	A	A	37	37	MLLT4	A	1	1
MLLT4	4301	broad.mit.edu	36	6	168068574	168068574	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:168068574C>T	uc003qwd.1	+	c.3029C>T	c.(3028-3030)ACC>ATC	p.T1010I	MLLT4_uc003qwb.1_Missense_Mutation_p.T995I|MLLT4_uc003qwc.1_Missense_Mutation_p.T1011I|MLLT4_uc003qwg.1_Missense_Mutation_p.T320I	NM_001040001	NP_001035090	E9PHS7	E9PHS7_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1011					signal transduction					ovary(2)|kidney(1)|central_nervous_system(1)	4		Breast(66;1.07e-05)|Ovarian(120;0.024)								1250				0.272727	86.03723	92.187413	36	96	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	168068574	168068574	10019	6	C	T	T	18	18	MLLT4	T	2	2
MLLT4	4301	broad.mit.edu	36	6	168094991	168094991	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:168094991G>T	uc003qwd.1	+	c.4084G>T	c.(4084-4086)GAC>TAC	p.D1362Y	MLLT4_uc003qwb.1_Missense_Mutation_p.D1347Y|MLLT4_uc003qwc.1_Missense_Mutation_p.D1363Y|MLLT4_uc003qwg.1_Missense_Mutation_p.D672Y	NM_001040001	NP_001035090	E9PHS7	E9PHS7_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1363					signal transduction					ovary(2)|kidney(1)|central_nervous_system(1)	4		Breast(66;1.07e-05)|Ovarian(120;0.024)								1250				0.586022	282.12419	283.326551	109	77	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	168094991	168094991	10019	6	G	T	T	33	33	MLLT4	T	3	3
THBS2	7058	broad.mit.edu	36	6	169362239	169362239	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:169362239C>A	uc003qwt.1	-	c.3490G>T	c.(3490-3492)GAC>TAC	p.D1164Y		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	1164	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)				Esophageal Squamous(91;219 1934 18562 44706)								0.560372	508.051587	509.069533	181	142	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	Missense_Mutation	SNP	169362239	169362239	16382	6	C	A	A	32	32	THBS2	A	3	3
THBS2	7058	broad.mit.edu	36	6	169367339	169367339	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:169367339C>T	uc003qwt.1	-	c.2599G>A	c.(2599-2601)GAC>AAC	p.D867N		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	867	TSP type-3 6.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)				Esophageal Squamous(91;219 1934 18562 44706)								0.428571	25.571884	25.665218	9	12	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	Missense_Mutation	SNP	169367339	169367339	16382	6	C	T	T	31	31	THBS2	T	1	1
THBS2	7058	broad.mit.edu	36	6	169370197	169370197	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:169370197G>A	uc003qwt.1	-	c.2364C>T	c.(2362-2364)ATC>ATT	p.I788I		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	788	TSP type-3 4.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)				Esophageal Squamous(91;219 1934 18562 44706)								0.363636	63.980917	65.060972	24	42	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	Silent	SNP	169370197	169370197	16382	6	G	A	A	37	37	THBS2	A	1	1
WDR27	253769	broad.mit.edu	36	6	169775078	169775078	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:169775078C>T	uc010kkw.1	-	c.2113G>A	c.(2113-2115)GCA>ACA	p.A705T	WDR27_uc003qwv.1_Non-coding_Transcript|WDR27_uc003qwx.2_Missense_Mutation_p.A705T|WDR27_uc003qwy.2_Missense_Mutation_p.A578T	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	WD repeat domain 27	675	WD 7.									pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)												0.5	65.725788	65.725788	23	23	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	Missense_Mutation	SNP	169775078	169775078	17857	6	C	T	T	27	27	WDR27	T	1	1
C6orf120	387263	broad.mit.edu	36	6	169844674	169844674	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:169844674T>C	uc003qxb.1	+	c.194T>C	c.(193-195)ATA>ACA	p.I65T	WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc010kkx.1_5'Flank	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN	hypothetical protein LOC387263	65						extracellular region					0		Breast(66;0.000338)												0.344444	88.103579	90.024102	31	59	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)	Missense_Mutation	SNP	169844674	169844674	2426	6	T	C	C	49	49	C6orf120	C	4	4
FAM120B	84498	broad.mit.edu	36	6	170469010	170469010	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:170469010A>G	uc003qxp.1	+	c.607A>G	c.(607-609)ACC>GCC	p.T203A	FAM120B_uc003qxo.1_Missense_Mutation_p.T203A	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	203					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)												0.208054	71.459901	83.209942	31	118	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	Missense_Mutation	SNP	170469010	170469010	5614	6	A	G	G	6	6	FAM120B	G	4	4
FAM120B	84498	broad.mit.edu	36	6	170469401	170469401	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:170469401C>T	uc003qxp.1	+	c.998C>T	c.(997-999)TCA>TTA	p.S333L	FAM120B_uc003qxo.1_Missense_Mutation_p.S333L	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	333					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)												0.287823	187.620384	198.574257	78	193	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	Missense_Mutation	SNP	170469401	170469401	5614	6	C	T	T	29	29	FAM120B	T	2	2
FAM120B	84498	broad.mit.edu	36	6	170469619	170469619	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:170469619G>T	uc003qxp.1	+	c.1216G>T	c.(1216-1218)GAC>TAC	p.D406Y	FAM120B_uc003qxo.1_Missense_Mutation_p.D406Y	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	406					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)												0.285185	347.965345	370.376377	154	386	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	Missense_Mutation	SNP	170469619	170469619	5614	6	G	T	T	33	33	FAM120B	T	3	3
FAM120B	84498	broad.mit.edu	36	6	170469757	170469757	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:170469757T>C	uc003qxp.1	+	c.1354T>C	c.(1354-1356)TAT>CAT	p.Y452H	FAM120B_uc003qxo.1_Missense_Mutation_p.Y452H	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	452					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)												0.58018	1122.502834	1125.618067	322	233	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	Missense_Mutation	SNP	170469757	170469757	5614	6	T	C	C	57	57	FAM120B	C	4	4
FAM120B	84498	broad.mit.edu	36	6	170469963	170469963	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:170469963C>A	uc003qxp.1	+	c.1560C>A	c.(1558-1560)GAC>GAA	p.D520E	FAM120B_uc003qxo.1_Missense_Mutation_p.D520E	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	520					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)												0.246835	92.340983	101.563898	39	119	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	Missense_Mutation	SNP	170469963	170469963	5614	6	C	A	A	20	20	FAM120B	A	3	3
FAM120B	84498	broad.mit.edu	36	6	170470128	170470128	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:170470128A>C	uc003qxp.1	+	c.1725A>C	c.(1723-1725)GAA>GAC	p.E575D	FAM120B_uc003qxo.1_Missense_Mutation_p.E575D	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	575					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)												0.206897	47.106675	54.028557	18	69	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	Missense_Mutation	SNP	170470128	170470128	5614	6	A	C	C	1	1	FAM120B	C	4	4
FAM120B	84498	broad.mit.edu	36	6	170474233	170474233	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:170474233C>T	uc003qxp.1	+	c.1876C>T	c.(1876-1878)CGA>TGA	p.R626*	FAM120B_uc003qxo.1_Nonsense_Mutation_p.R626*	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	626					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)												0.294643	81.830553	86.057582	33	79	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	Nonsense_Mutation	SNP	170474233	170474233	5614	6	C	T	T	31	31	FAM120B	T	5	1
PSMB1	5689	broad.mit.edu	36	6	170700019	170700019	+	Nonsense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:170700019A>C	uc003qxs.1	-	c.221T>G	c.(220-222)TTA>TGA	p.L74*	PSMB1_uc003qxq.1_Non-coding_Transcript|PSMB1_uc003qxr.1_De_novo_Start_OutOfFrame	NM_002793	NP_002784	P20618	PSB1_HUMAN	proteasome beta 1 subunit	74					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)			Bortezomib(DB00188)									0.353846	75.013279	76.234053	23	42	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Nonsense_Mutation	SNP	170700019	170700019	13127	6	A	C	C	5	5	PSMB1	C	5	4
RBM24	221662	broad.mit.edu	36	6	17400193	17400193	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:17400193G>A	uc003nbz.2	+	c.575G>A	c.(574-576)GGC>GAC	p.G192D	RBM24_uc003nby.2_3'UTR|RBM24_uc003nca.1_Missense_Mutation_p.G147D	NM_153020	NP_694565	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 2	192	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)	1	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)												0.346939	42.152762	43.169396	17	32	GG		KEEP	---	---	---	---	capture	all cancers(50;0.131)|Epithelial(50;0.15)		Missense_Mutation	SNP	17400193	17400193	13586	6	G	A	A	42	42	RBM24	A	2	2
FAM8A1	51439	broad.mit.edu	36	6	17714199	17714199	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:17714199C>A	uc003ncc.1	+	c.1073C>A	c.(1072-1074)CCT>CAT	p.P358H		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	358	RDD.					integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)												0.181818	47.657309	61.266406	26	117	CC		KEEP	---	---	---	---	capture	all cancers(50;0.176)|Epithelial(50;0.204)		Missense_Mutation	SNP	17714199	17714199	5875	6	C	A	A	24	24	FAM8A1	A	3	3
NUP153	9972	broad.mit.edu	36	6	17737373	17737373	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:17737373C>A	uc003ncd.1	-	c.3036G>T	c.(3034-3036)GAG>GAT	p.E1012D	NUP153_uc010jpl.1_Missense_Mutation_p.E970D	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1012					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(2)|ovary(1)|skin(1)	4	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)								1004				0.238095	64.576361	72.480551	30	96	CC		KEEP	---	---	---	---	capture	all cancers(50;0.0981)|Epithelial(50;0.112)		Missense_Mutation	SNP	17737373	17737373	11160	6	C	A	A	24	24	NUP153	A	3	3
NUP153	9972	broad.mit.edu	36	6	17737562	17737562	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:17737562G>A	uc003ncd.1	-	c.2847C>T	c.(2845-2847)GGC>GGT	p.G949G	NUP153_uc010jpl.1_Silent_p.G907G	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	949					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(2)|ovary(1)|skin(1)	4	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)								1004				0.214286	108.162986	125.062963	48	176	GG		KEEP	---	---	---	---	capture	all cancers(50;0.0981)|Epithelial(50;0.112)		Silent	SNP	17737562	17737562	11160	6	G	A	A	34	34	NUP153	A	2	2
NUP153	9972	broad.mit.edu	36	6	17773529	17773529	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:17773529G>A	uc003ncd.1	-	c.1135C>T	c.(1135-1137)CGA>TGA	p.R379*	NUP153_uc010jpl.1_Nonsense_Mutation_p.R379*	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	379					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(2)|ovary(1)|skin(1)	4	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)								1004				0.304813	144.802261	151.159772	57	130	GG		KEEP	---	---	---	---	capture	all cancers(50;0.0981)|Epithelial(50;0.112)		Nonsense_Mutation	SNP	17773529	17773529	11160	6	G	A	A	37	37	NUP153	A	5	1
NUP153	9972	broad.mit.edu	36	6	17783794	17783794	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:17783794G>T	uc003ncd.1	-	c.521C>A	c.(520-522)TCT>TAT	p.S174Y	NUP153_uc010jpl.1_Missense_Mutation_p.S174Y	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	174					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(2)|ovary(1)|skin(1)	4	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)								1004				0.265823	93.972892	101.807977	42	116	GG		KEEP	---	---	---	---	capture	all cancers(50;0.0981)|Epithelial(50;0.112)		Missense_Mutation	SNP	17783794	17783794	11160	6	G	T	T	33	33	NUP153	T	3	3
KIF13A	63971	broad.mit.edu	36	6	17963769	17963769	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:17963769C>T	uc003ncg.2	-	c.372G>A	c.(370-372)AGG>AGA	p.R124R	KIF13A_uc003ncf.2_Silent_p.R124R|KIF13A_uc003nch.2_Silent_p.R124R|KIF13A_uc003nci.2_Silent_p.R124R	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	124	Kinesin-motor.				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)												0.243902	47.557248	52.460109	20	62	CC		KEEP	---	---	---	---	capture	all cancers(50;0.0865)|Epithelial(50;0.0974)		Silent	SNP	17963769	17963769	8585	6	C	T	T	26	26	KIF13A	T	2	2
NHLRC1	378884	broad.mit.edu	36	6	18229726	18229726	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:18229726G>A	uc003ncl.1	-	c.1091C>T	c.(1090-1092)TCG>TTG	p.S364L		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	364	NHL 6.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)												0.299401	122.795108	128.795215	50	117	GG		KEEP	---	---	---	---	capture	all cancers(50;0.0451)|Epithelial(50;0.0493)		Missense_Mutation	SNP	18229726	18229726	10805	6	G	A	A	37	37	NHLRC1	A	1	1
MBOAT1	154141	broad.mit.edu	36	6	20236955	20236955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:20236955G>A	uc003ncx.1	-	c.484C>T	c.(484-486)CGA>TGA	p.R162*		NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	162					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)													0.285714	45.422073	48.019348	18	45	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		Nonsense_Mutation	SNP	20236955	20236955	9744	6	G	A	A	37	37	MBOAT1	A	5	1
E2F3	1871	broad.mit.edu	36	6	20598596	20598596	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:20598596G>A	uc003nda.2	+	c.1354G>A	c.(1354-1356)GAT>AAT	p.D452N		NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	452	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)													0.575758	506.840499	508.324504	171	126	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		Missense_Mutation	SNP	20598596	20598596	5054	6	G	A	A	37	37	E2F3	A	1	1
CDKAL1	54901	broad.mit.edu	36	6	20654599	20654599	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:20654599C>T	uc003ndc.1	+	c.39C>T	c.(37-39)ATC>ATT	p.I13I	CDKAL1_uc003ndd.1_Silent_p.I13I|CDKAL1_uc003nde.1_5'UTR|CDKAL1_uc003ndb.1_Silent_p.I13I|CDKAL1_uc010jpo.1_Silent_p.I13I	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	13					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|catalytic activity|metal ion binding			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)													0.283333	126.148107	133.738541	51	129	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		Silent	SNP	20654599	20654599	3281	6	C	T	T	31	31	CDKAL1	T	1	1
SOX4	6659	broad.mit.edu	36	6	21702987	21702987	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:21702987G>T	uc003ndi.1	+	c.243G>T	c.(241-243)TCG>TCT	p.S81S		NM_003107	NP_003098	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	81	HMG box.				canonical Wnt receptor signaling pathway|heart development|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|pro-B cell differentiation|protein stabilization|T cell differentiation	mitochondrion|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(93;0.163)													0.380952	23.915938	24.169047	8	13	GG		KEEP	---	---	---	---	capture	all cancers(50;0.0751)|Epithelial(50;0.155)		Silent	SNP	21702987	21702987	15453	6	G	T	T	38	38	SOX4	T	3	3
PRL	5617	broad.mit.edu	36	6	22395714	22395714	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:22395714A>C	uc003ndo.1	-	c.583T>G	c.(583-585)TCT>GCT	p.S195A	PRL_uc003ndp.1_Missense_Mutation_p.S194A|PRL_uc003ndq.1_Missense_Mutation_p.S194A	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin	194					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)													0.280488	135.491095	142.587703	46	118	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22395714	22395714	12971	6	A	C	C	9	9	PRL	C	4	4
PRL	5617	broad.mit.edu	36	6	22398524	22398524	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:22398524C>T	uc003ndo.1	-	c.353G>A	c.(352-354)CGA>CAA	p.R118Q	PRL_uc003ndp.1_Missense_Mutation_p.R117Q|PRL_uc003ndq.1_Missense_Mutation_p.R117Q	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin	117					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)													0.234177	80.787454	91.011849	37	121	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22398524	22398524	12971	6	C	T	T	31	31	PRL	T	1	1
PRL	5617	broad.mit.edu	36	6	22405174	22405174	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:22405174G>A	uc003ndo.1	-	c.17C>T	c.(16-18)TCG>TTG	p.S6L	PRL_uc003ndp.1_Missense_Mutation_p.S6L|PRL_uc003ndq.1_Missense_Mutation_p.S6L|PRL_uc003ndr.1_Non-coding_Transcript	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin	6					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)													0.434783	56.79204	56.962723	20	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22405174	22405174	12971	6	G	A	A	37	37	PRL	A	1	1
DCDC2	51473	broad.mit.edu	36	6	24286801	24286801	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24286801C>A	uc003ndx.1	-	c.1062G>T	c.(1060-1062)GAG>GAT	p.E354D	DCDC2_uc003ndy.1_Missense_Mutation_p.E354D|DCDC2_uc003ndw.1_Missense_Mutation_p.E105D	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	354					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)												0.25641	87.411182	95.817263	40	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24286801	24286801	4456	6	C	A	A	32	32	DCDC2	A	3	3
GPLD1	2822	broad.mit.edu	36	6	24575432	24575432	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24575432G>A	uc003ned.1	-	c.595C>T	c.(595-597)CGA>TGA	p.R199*	GPLD1_uc010jpr.1_Nonsense_Mutation_p.R36*|GPLD1_uc010jps.1_Nonsense_Mutation_p.R199*	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	199						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3														0.225166	74.479705	84.953332	34	117	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	24575432	24575432	6888	6	G	A	A	37	37	GPLD1	A	5	1
GPLD1	2822	broad.mit.edu	36	6	24584451	24584451	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24584451C>T	uc003ned.1	-	c.267G>A	c.(265-267)TGG>TGA	p.W89*	GPLD1_uc010jpr.1_5'UTR|GPLD1_uc010jps.1_Nonsense_Mutation_p.W89*|GPLD1_uc003nee.1_Nonsense_Mutation_p.W89*	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	89						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3														0.777778	22.629045	23.26744	7	2	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	24584451	24584451	6888	6	C	T	T	30	30	GPLD1	T	5	2
GPLD1	2822	broad.mit.edu	36	6	24588143	24588143	+	Silent	SNP	C	T	T	rs1139460	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24588143C>T	uc003ned.1	-	c.177G>A	c.(175-177)GCG>GCA	p.A59A	GPLD1_uc010jps.1_Silent_p.A59A|GPLD1_uc003nee.1_Silent_p.A59A	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	59						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3														0.587838	257.734148	258.729288	87	61	CC		KEEP	---	---	---	---	capture			Silent	SNP	24588143	24588143	6888	6	C	T	T	19	19	GPLD1	T	1	1
ALDH5A1	7915	broad.mit.edu	36	6	24631095	24631095	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24631095C>T	uc003nef.1	+	c.1175C>T	c.(1174-1176)ACT>ATT	p.T392I	ALDH5A1_uc003neg.1_Missense_Mutation_p.T379I	NM_170740	NP_733936	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 1 precursor	379					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	protein homodimerization activity|succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)									0.560976	365.238956	365.901169	115	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24631095	24631095	505	6	C	T	T	20	20	ALDH5A1	T	2	2
KIAA0319	9856	broad.mit.edu	36	6	24655538	24655538	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24655538C>T	uc003neh.1	-	c.3053G>A	c.(3052-3054)CGA>CAA	p.R1018Q	KIAA0319_uc010jpt.1_Missense_Mutation_p.R429Q	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319	1018	Cytoplasmic (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)	1														0.277778	47.775184	50.971109	20	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24655538	24655538	8475	6	C	T	T	31	31	KIAA0319	T	1	1
KIAA0319	9856	broad.mit.edu	36	6	24674853	24674853	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24674853C>A	uc003neh.1	-	c.2243G>T	c.(2242-2244)AGA>ATA	p.R748I	KIAA0319_uc010jpt.1_Missense_Mutation_p.R159I	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319	748	PKD 5.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)	1														0.333333	177.567884	182.972669	73	146	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24674853	24674853	8475	6	C	A	A	32	32	KIAA0319	A	3	3
KIAA0319	9856	broad.mit.edu	36	6	24704435	24704435	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24704435C>T	uc003neh.1	-	c.446G>A	c.(445-447)GGC>GAC	p.G149D		NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319	149	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)	1														0.283333	121.746537	129.338591	51	129	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24704435	24704435	8475	6	C	T	T	26	26	KIAA0319	T	2	2
C6orf62	81688	broad.mit.edu	36	6	24826802	24826802	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24826802G>T	uc003nel.1	-	c.74C>A	c.(73-75)TCT>TAT	p.S25Y		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	hypothetical protein LOC81688	25						intracellular					0														0.308901	141.435183	147.662216	59	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24826802	24826802	2474	6	G	T	T	33	33	C6orf62	T	3	3
FAM65B	9750	broad.mit.edu	36	6	24951665	24951665	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24951665C>T	uc003neo.1	-	c.1324G>A	c.(1324-1326)GCC>ACC	p.A442T	FAM65B_uc003nep.1_Missense_Mutation_p.A392T	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	442					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1														0.509091	75.696638	75.700622	28	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24951665	24951665	5823	6	C	T	T	27	27	FAM65B	T	1	1
LRRC16A	55604	broad.mit.edu	36	6	25608418	25608418	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:25608418T>G	uc010jpy.1	+	c.1371T>G	c.(1369-1371)GTT>GTG	p.V457V	LRRC16A_uc010jpx.1_Silent_p.V457V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	457					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4														0.3125	74.548536	77.050781	25	55	TT		KEEP	---	---	---	---	capture			Silent	SNP	25608418	25608418	9345	6	T	G	G	64	64	LRRC16A	G	4	4
LRRC16A	55604	broad.mit.edu	36	6	25662241	25662241	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:25662241T>G	uc010jpy.1	+	c.2530T>G	c.(2530-2532)TTC>GTC	p.F844V	LRRC16A_uc010jpx.1_Missense_Mutation_p.F844V|LRRC16A_uc003nfa.1_Missense_Mutation_p.F198V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	844					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4														0.210526	10.090585	11.562633	4	15	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25662241	25662241	9345	6	T	G	G	60	60	LRRC16A	G	4	4
SCGN	10590	broad.mit.edu	36	6	25760661	25760661	+	Missense_Mutation	SNP	C	A	A	rs34355491	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:25760661C>A	uc003nfb.1	+	c.51C>A	c.(49-51)TTC>TTA	p.F17L	SCGN_uc010jpz.1_De_novo_Start_InFrame	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	17	EF-hand 1.					extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3														0.282051	95.81696	102.48845	44	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25760661	25760661	14385	6	C	A	A	32	32	SCGN	A	3	3
SLC17A3	10786	broad.mit.edu	36	6	25958313	25958313	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:25958313A>G	uc003nfk.2	-	c.1065T>C	c.(1063-1065)GAT>GAC	p.D355D	SLC17A3_uc003nfi.2_Silent_p.D277D	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	277					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														0.252101	81.005033	87.63881	30	89	AA		KEEP	---	---	---	---	capture			Silent	SNP	25958313	25958313	14914	6	A	G	G	4	4	SLC17A3	G	4	4
SLC17A2	10246	broad.mit.edu	36	6	26022809	26022809	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:26022809G>A	uc003nfl.1	-	c.1132C>T	c.(1132-1134)CCA>TCA	p.P378S		NM_005835	NP_005826	O00624	NPT3_HUMAN	solute carrier family 17 (sodium phosphate),	66					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1														0.231579	50.996514	57.270335	22	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26022809	26022809	14913	6	G	A	A	42	42	SLC17A2	A	2	2
SLC17A2	10246	broad.mit.edu	36	6	26029434	26029434	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:26029434G>A	uc003nfl.1	-	c.426C>T	c.(424-426)TTC>TTT	p.F142F		NM_005835	NP_005826	O00624	NPT3_HUMAN	solute carrier family 17 (sodium phosphate),	142	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1														0.253623	78.769516	86.36851	35	103	GG		KEEP	---	---	---	---	capture			Silent	SNP	26029434	26029434	14913	6	G	A	A	37	37	SLC17A2	A	1	1
MYLK4	340156	broad.mit.edu	36	6	2630551	2630551	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2630551C>T	uc003mty.2	-	c.523G>A	c.(523-525)GAC>AAC	p.D175N		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	175	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)								535				0.28754	219.274823	231.917227	90	223	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2630551	2630551	10454	6	C	T	T	31	31	MYLK4	T	1	1
BTN3A2	11118	broad.mit.edu	36	6	26476796	26476796	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:26476796C>A	uc010jqh.1	+	c.110C>A	c.(109-111)TCT>TAT	p.S37Y	BTN3A2_uc003nho.1_Missense_Mutation_p.S35Y|BTN3A2_uc003nhp.1_Missense_Mutation_p.S37Y|BTN3A2_uc010jqi.1_Missense_Mutation_p.S37Y	NM_007047	NP_008978	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2 precursor	37	Ig-like V-type.|Extracellular (Potential).					integral to membrane					0														0.263158	99.684099	108.370584	45	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26476796	26476796	1597	6	C	A	A	32	32	BTN3A2	A	3	3
BTN2A2	10385	broad.mit.edu	36	6	26493482	26493482	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:26493482G>A	uc003nhq.1	+	c.355G>A	c.(355-357)GTC>ATC	p.V119I	BTN2A2_uc003nhr.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.V119I|BTN2A2_uc003nht.1_Missense_Mutation_p.V119I	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	119	Extracellular (Potential).|Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0														0.261538	37.845432	41.191277	17	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26493482	26493482	1595	6	G	A	A	40	40	BTN2A2	A	1	1
BTN1A1	696	broad.mit.edu	36	6	26616776	26616776	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:26616776C>T	uc003nif.2	+	c.976C>T	c.(976-978)CGA>TGA	p.R326*		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	326	B30.2/SPRY.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)	1														0.283019	290.758959	308.669342	120	304	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	26616776	26616776	1593	6	C	T	T	31	31	BTN1A1	T	5	1
HIST1H2AG	8969	broad.mit.edu	36	6	27209026	27209026	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:27209026T>C	uc003niw.1	+	c.197T>C	c.(196-198)CTG>CCG	p.L66P	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.1_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	66					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0														0.292308	106.387542	111.41702	38	92	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27209026	27209026	7418	6	T	C	C	55	55	HIST1H2AG	C	4	4
HIST1H4I	8294	broad.mit.edu	36	6	27215360	27215360	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:27215360C>A	uc003niy.1	+	c.294C>A	c.(292-294)CTC>CTA	p.L98L	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_778224	P62805	H4_HUMAN	histone cluster 1, H4i	98					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1										6				0.235849	52.220784	58.986191	25	81	CC		KEEP	---	---	---	---	capture			Silent	SNP	27215360	27215360	7458	6	C	A	A	32	32	HIST1H4I	A	3	3
WRNIP1	56897	broad.mit.edu	36	6	2730354	2730354	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2730354C>T	uc003mtz.1	+	c.1837C>T	c.(1837-1839)CCC>TCC	p.P613S	WRNIP1_uc003mua.1_Missense_Mutation_p.P588S	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein isoform 1	613					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)												0.554878	291.537498	291.966881	91	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2730354	2730354	17977	6	C	T	T	22	22	WRNIP1	T	2	2
PRSS16	10279	broad.mit.edu	36	6	27323655	27323656	+	Missense_Mutation	DNP	GC	AT	AT			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27323655_27323656GC>AT	uc003nja.1	+	c.86_87GC>AT	c.(85-87)CGC>CAT	p.R29H	PRSS16_uc003njb.1_Missense_Mutation_p.R29H|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank|PRSS16_uc003njc.1_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16	29					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)	4						NSCLC(178;1118 2105 17078 23587 44429)								0.241071	59.466748	66.320767	27	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	27323655	27323656	13066	6	GC	AT	AT	38	38	PRSS16	AT	1	1
ZNF184	7738	broad.mit.edu	36	6	27528517	27528517	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:27528517T>C	uc003nji.1	-	c.800A>G	c.(799-801)AAC>AGC	p.N267S	ZNF184_uc003njj.1_Missense_Mutation_p.N267S|ZNF184_uc010jqv.1_Missense_Mutation_p.N267S	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	267	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.549763	412.231685	412.688121	116	95	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27528517	27528517	18342	6	T	C	C	60	60	ZNF184	C	4	4
SERPINB1	1992	broad.mit.edu	36	6	2779116	2779116	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2779116C>T	uc003mub.1	-	c.865G>A	c.(865-867)GCC>ACC	p.A289T	SERPINB1_uc003muc.1_Missense_Mutation_p.A138T	NM_030666	NP_109591	P30740	ILEU_HUMAN	serine (or cysteine) proteinase inhibitor, clade	289					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|ovary(1)	5	Ovarian(93;0.0412)									73				0.194444	36.615157	46.02679	21	87	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	Missense_Mutation	SNP	2779116	2779116	14584	6	C	T	T	27	27	SERPINB1	T	1	1
SERPINB1	1992	broad.mit.edu	36	6	2781365	2781365	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2781365C>T	uc003mub.1	-	c.543G>A	c.(541-543)ACG>ACA	p.T181T	SERPINB1_uc003muc.1_Silent_p.T30T	NM_030666	NP_109591	P30740	ILEU_HUMAN	serine (or cysteine) proteinase inhibitor, clade	181					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|ovary(1)	5	Ovarian(93;0.0412)									73				0.851064	761.555679	794.893817	240	42	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	Silent	SNP	2781365	2781365	14584	6	C	T	T	31	31	SERPINB1	T	1	1
DUSP22	56940	broad.mit.edu	36	6	280144	280144	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:280144G>A	uc003msx.1	+	c.169G>A	c.(169-171)GAT>AAT	p.D57N	DUSP22_uc003msy.1_Missense_Mutation_p.D14N	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	57					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)												0.213904	89.188739	103.332788	40	147	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	Missense_Mutation	SNP	280144	280144	5006	6	G	A	A	41	41	DUSP22	A	2	2
ZKSCAN4	387032	broad.mit.edu	36	6	28321522	28321522	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28321522G>T	uc003nks.1	-	c.989C>A	c.(988-990)GCT>GAT	p.A330D		NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	330	C2H2-type 1.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.27673	107.921499	115.062685	44	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28321522	28321522	18280	6	G	T	T	34	34	ZKSCAN4	T	3	3
ZKSCAN4	387032	broad.mit.edu	36	6	28327480	28327480	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28327480C>T	uc003nks.1	-	c.258G>A	c.(256-258)ATG>ATA	p.M86I		NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	86	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.409639	82.416975	83.012693	34	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28327480	28327480	18280	6	C	T	T	25	25	ZKSCAN4	T	2	2
NKAPL	222698	broad.mit.edu	36	6	28335189	28335189	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28335189C>T	uc003nkt.1	+	c.61C>T	c.(61-63)CGC>TGC	p.R21C		NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	21										ovary(1)	1														0.544304	121.46	121.601409	43	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28335189	28335189	10841	6	C	T	T	19	19	NKAPL	T	1	1
NKAPL	222698	broad.mit.edu	36	6	28335765	28335765	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28335765A>C	uc003nkt.1	+	c.637A>C	c.(637-639)AAT>CAT	p.N213H		NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	213	Lys-rich.									ovary(1)	1														0.266667	83.360104	88.518471	28	77	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28335765	28335765	10841	6	A	C	C	1	1	NKAPL	C	4	4
ZNF187	7741	broad.mit.edu	36	6	28352784	28352784	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28352784G>A	uc003nku.2	+	c.967G>A	c.(967-969)GAA>AAA	p.E323K	ZNF187_uc003nkx.2_Missense_Mutation_p.E304K|ZNF187_uc003nkv.2_Missense_Mutation_p.E304K|ZNF187_uc003nkw.2_Missense_Mutation_p.E304K	NM_152736	NP_689949	Q16670	ZN187_HUMAN	zinc finger protein 187 isoform c	457	C2H2-type 8.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.54491	289.814449	290.105081	91	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28352784	28352784	18344	6	G	A	A	33	33	ZNF187	A	2	2
PGBD1	84547	broad.mit.edu	36	6	28377561	28377561	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28377561C>T	uc003nky.1	+	c.1951C>T	c.(1951-1953)CGT>TGT	p.R651C	PGBD1_uc003nkz.1_Missense_Mutation_p.R651C	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	651					regulation of transcription, DNA-dependent|viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4														0.607735	326.567854	328.405494	110	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28377561	28377561	12203	6	C	T	T	31	31	PGBD1	T	1	1
GPX6	257202	broad.mit.edu	36	6	28580135	28580135	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28580135G>A	uc003nlk.1	-	c.579C>T	c.(577-579)GTC>GTT	p.V193V	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6	193					oxidation-reduction process|response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)	4					Glutathione(DB00143)									0.285714	104.182681	110.244525	42	105	GG		KEEP	---	---	---	---	capture			Silent	SNP	28580135	28580135	7020	6	G	A	A	41	41	GPX6	A	2	2
GPX5	2880	broad.mit.edu	36	6	28607634	28607634	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28607634G>A	uc003nll.1	+	c.342G>A	c.(340-342)GAG>GAA	p.E114E	GPX5_uc003nlm.1_Intron|GPX5_uc003nln.1_Intron	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	114					lipid metabolic process|oxidation-reduction process|response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)									0.297222	279.464665	292.71249	107	253	GG		KEEP	---	---	---	---	capture			Silent	SNP	28607634	28607634	7019	6	G	A	A	33	33	GPX5	A	2	2
SCAND3	114821	broad.mit.edu	36	6	28648241	28648241	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28648241C>T	uc003nlo.1	-	c.3404G>A	c.(3403-3405)GGA>GAA	p.G1135E		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1135					DNA integration|regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.230216	70.019228	79.415859	32	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28648241	28648241	14357	6	C	T	T	30	30	SCAND3	T	2	2
SCAND3	114821	broad.mit.edu	36	6	28649268	28649268	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28649268C>A	uc003nlo.1	-	c.2377G>T	c.(2377-2379)GAA>TAA	p.E793*		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	793					DNA integration|regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.24812	72.200761	79.885343	33	100	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	28649268	28649268	14357	6	C	A	A	32	32	SCAND3	A	5	3
SCAND3	114821	broad.mit.edu	36	6	28662453	28662453	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28662453G>T	uc003nlo.1	-	c.21C>A	c.(19-21)GTC>GTA	p.V7V		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	7					DNA integration|regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.139344	19.083473	34.431397	17	105	GG		KEEP	---	---	---	---	capture			Silent	SNP	28662453	28662453	14357	6	G	T	T	33	33	SCAND3	T	3	3
SERPINB6	5269	broad.mit.edu	36	6	2894222	2894222	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2894222G>A	uc003muk.1	-	c.654C>T	c.(652-654)ATC>ATT	p.I218I	SERPINB6_uc003mui.1_Silent_p.I101I|SERPINB6_uc003muj.1_Non-coding_Transcript|SERPINB6_uc003mul.1_Silent_p.I218I|SERPINB6_uc003mum.1_Silent_p.I218I|SERPINB6_uc003mun.1_Silent_p.I218I|SERPINB6_uc003muo.1_Silent_p.I218I	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	218					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)									0.276786	77.271755	82.297865	31	81	GG		KEEP	---	---	---	---	capture			Silent	SNP	2894222	2894222	14593	6	G	A	A	33	33	SERPINB6	A	2	2
TRIM27	5987	broad.mit.edu	36	6	28995837	28995837	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28995837G>T	uc003nlr.1	-	c.678C>A	c.(676-678)ATC>ATA	p.I226I	TRIM27_uc003nls.2_Silent_p.I226I|TRIM27_uc003nlt.1_Silent_p.I226I	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	226					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1														0.224138	103.865638	120.107927	52	180	GG		KEEP	---	---	---	---	capture			Silent	SNP	28995837	28995837	17045	6	G	T	T	33	33	TRIM27	T	3	3
TRIM27	5987	broad.mit.edu	36	6	28995919	28995919	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28995919C>T	uc003nlr.1	-	c.596G>A	c.(595-597)CGC>CAC	p.R199H	TRIM27_uc003nls.2_Missense_Mutation_p.R199H|TRIM27_uc003nlt.1_Missense_Mutation_p.R199H	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	199					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1														0.240343	115.186626	129.532755	56	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28995919	28995919	17045	6	C	T	T	27	27	TRIM27	T	1	1
SERPINB6	5269	broad.mit.edu	36	6	2900773	2900773	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2900773G>T	uc003muk.1	-	c.296C>A	c.(295-297)TCT>TAT	p.S99Y	SERPINB6_uc003mui.1_5'UTR|SERPINB6_uc003muj.1_Non-coding_Transcript|SERPINB6_uc003mul.1_Missense_Mutation_p.S99Y|SERPINB6_uc003mum.1_Missense_Mutation_p.S99Y|SERPINB6_uc003mun.1_Missense_Mutation_p.S99Y|SERPINB6_uc003muo.1_Missense_Mutation_p.S99Y	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	99					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)									0.530769	195.965445	196.071304	69	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2900773	2900773	14593	6	G	T	T	33	33	SERPINB6	T	3	3
OR2J3	442186	broad.mit.edu	36	6	29188147	29188147	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29188147C>A	uc003nlz.1	+	c.501C>A	c.(499-501)TTC>TTA	p.F167L		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.252101	130.551031	143.868113	60	178	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29188147	29188147	11410	6	C	A	A	32	32	OR2J3	A	3	3
OR14J1	442191	broad.mit.edu	36	6	29383105	29383105	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29383105C>T	uc003nmc.1	+	c.660C>T	c.(658-660)TTC>TTT	p.F220F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.297297	284.851617	298.480465	110	260	CC		KEEP	---	---	---	---	capture			Silent	SNP	29383105	29383105	11354	6	C	T	T	32	32	OR14J1	T	2	2
OR12D3	81797	broad.mit.edu	36	6	29450129	29450129	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29450129A>G	uc003nme.1	-	c.915T>C	c.(913-915)GGT>GGC	p.G305G		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3														0.27897	197.399303	207.62151	65	168	AA		KEEP	---	---	---	---	capture			Silent	SNP	29450129	29450129	11338	6	A	G	G	14	14	OR12D3	G	4	4
OR12D2	26529	broad.mit.edu	36	6	29473095	29473095	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29473095C>T	uc003nmf.2	+	c.640C>T	c.(640-642)CTC>TTC	p.L214F		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.237903	143.091621	158.661474	59	189	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29473095	29473095	11337	6	C	T	T	32	32	OR12D2	T	2	2
OR11A1	26531	broad.mit.edu	36	6	29502681	29502681	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29502681G>A	uc003nmg.1	-	c.717C>T	c.(715-717)TTC>TTT	p.F239F		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.572816	176.628984	177.10412	59	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	29502681	29502681	11330	6	G	A	A	33	33	OR11A1	A	2	2
OR2H1	26716	broad.mit.edu	36	6	29538075	29538075	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29538075C>T	uc003nmi.1	+	c.550C>T	c.(550-552)CGA>TGA	p.R184*	OR2H1_uc003nmj.1_Nonsense_Mutation_p.R184*|OR2H1_uc010jri.1_Nonsense_Mutation_p.R106*|OR2H1_uc010jrj.1_Nonsense_Mutation_p.R106*|OR2H1_uc010jrk.1_Nonsense_Mutation_p.R184*	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	184	Extracellular (Potential).			R -> G (in Ref. 6; AAC00188).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.554404	628.430329	629.419699	214	172	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	29538075	29538075	11407	6	C	T	T	31	31	OR2H1	T	5	1
MAS1L	116511	broad.mit.edu	36	6	29562591	29562591	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29562591C>T	uc003nmm.1	-	c.1068G>A	c.(1066-1068)GAG>GAA	p.E356E		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	356	Cytoplasmic (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(5)	5						NSCLC(153;755 1987 3859 11251 32945)								0.501931	374.336577	374.337417	130	129	CC		KEEP	---	---	---	---	capture			Silent	SNP	29562591	29562591	9705	6	C	T	T	28	28	MAS1L	T	2	2
MAS1L	116511	broad.mit.edu	36	6	29562850	29562850	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29562850G>A	uc003nmm.1	-	c.809C>T	c.(808-810)GCC>GTC	p.A270V		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	270	Helical; Name=6; (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(5)	5						NSCLC(153;755 1987 3859 11251 32945)								0.283784	47.632274	50.750261	21	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29562850	29562850	9705	6	G	A	A	42	42	MAS1L	A	2	2
GABBR1	2550	broad.mit.edu	36	6	29680352	29680352	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29680352C>T	uc003nmt.2	-	c.2610G>A	c.(2608-2610)GCG>GCA	p.A870A	GABBR1_uc003nmp.2_Silent_p.A753A|GABBR1_uc003nms.2_Silent_p.A753A|GABBR1_uc003nmu.2_Silent_p.A808A|GABBR1_uc003nmv.2_3'UTR|GABBR1_uc003nmw.2_Silent_p.A677A	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	870	Cytoplasmic (Potential).|Potential.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)	6					Baclofen(DB00181)|Progabide(DB00837)									0.193548	61.954581	78.227903	36	150	CC		KEEP	---	---	---	---	capture			Silent	SNP	29680352	29680352	6406	6	C	T	T	27	27	GABBR1	T	1	1
MOG	4340	broad.mit.edu	36	6	29746141	29746141	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29746141C>T	uc003nmy.1	+	c.697C>T	c.(697-699)CGA>TGA	p.R233*	MOG_uc003nmz.1_3'UTR|MOG_uc003nna.1_Nonsense_Mutation_p.R117*|MOG_uc003nnd.1_3'UTR|MOG_uc003nne.1_Nonsense_Mutation_p.R233*|MOG_uc003nnf.1_Nonsense_Mutation_p.R233*|MOG_uc003nng.1_Intron|MOG_uc003nni.1_Intron|MOG_uc003nnh.1_Intron|MOG_uc003nnj.1_Intron|MOG_uc003nnk.1_Intron	NM_206809	NP_996532	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein isoform	233	Extracellular (Potential).				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.R233*(1)		ovary(1)	1														0.303887	209.531351	219.252564	86	197	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	29746141	29746141	10084	6	C	T	T	31	31	MOG	T	5	1
ZFP57	346171	broad.mit.edu	36	6	29749307	29749307	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29749307C>T	uc003nnl.2	-	c.500G>A	c.(499-501)CGC>CAC	p.R167H		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	103	C2H2-type 1.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)	3														0.319149	71.565016	74.220791	30	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29749307	29749307	18239	6	C	T	T	27	27	ZFP57	T	1	1
ZNRD1	30834	broad.mit.edu	36	6	30137696	30137696	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30137696A>G	uc003noz.1	+	c.169A>G	c.(169-171)ACT>GCT	p.T57A	ZNRD1-AS_uc010jrt.1_5'Flank|ZNRD1-AS_uc010jru.1_5'Flank|ZNRD1-AS_uc010jrv.1_5'Flank|ZNRD1-AS_uc003nox.1_5'Flank|ZNRD1-AS_uc003noy.2_5'Flank|ZNRD1_uc003npa.1_Missense_Mutation_p.T57A	NM_014596	NP_740753	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	57						nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|transcription regulator activity|zinc ion binding				0														0.22956	191.213011	212.548923	73	245	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30137696	30137696	18814	6	A	G	G	10	10	ZNRD1	G	4	4
TRIM40	135644	broad.mit.edu	36	6	30222884	30222884	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30222884C>T	uc003npk.2	+	c.585C>T	c.(583-585)ATC>ATT	p.I195I	TRIM40_uc003npm.2_Silent_p.I166I	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	tripartite motif-containing 40	195						intracellular	zinc ion binding			ovary(1)	1														0.288889	67.018795	70.611572	26	64	CC		KEEP	---	---	---	---	capture			Silent	SNP	30222884	30222884	17059	6	C	T	T	32	32	TRIM40	T	2	2
TRIM10	10107	broad.mit.edu	36	6	30230091	30230091	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30230091G>A	uc003npo.2	-	c.1080C>T	c.(1078-1080)ATC>ATT	p.I360I	TRIM10_uc003npn.1_Silent_p.I360I	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	360	B30.2/SPRY.					cytoplasm	zinc ion binding				0														0.356322	78.090907	79.677088	31	56	GG		KEEP	---	---	---	---	capture			Silent	SNP	30230091	30230091	17030	6	G	A	A	45	45	TRIM10	A	2	2
TRIM10	10107	broad.mit.edu	36	6	30234304	30234304	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30234304G>T	uc003npo.2	-	c.607C>A	c.(607-609)CTC>ATC	p.L203I	TRIM10_uc003npn.1_Missense_Mutation_p.L203I	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	203						cytoplasm	zinc ion binding				0														0.264151	391.99464	423.995407	168	468	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30234304	30234304	17030	6	G	T	T	35	35	TRIM10	T	3	3
TRIM15	89870	broad.mit.edu	36	6	30239740	30239740	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30239740C>A	uc010jrx.1	+	c.300C>A	c.(298-300)TTC>TTA	p.F100L		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	100	B box-type.				mesodermal cell fate determination	intracellular	zinc ion binding				0														0.27619	62.309625	67.060799	29	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30239740	30239740	17034	6	C	A	A	30	30	TRIM15	A	3	3
TRIM26	7726	broad.mit.edu	36	6	30261914	30261914	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30261914C>T	uc003npr.1	-	c.1338G>A	c.(1336-1338)GTG>GTA	p.V446V	TRIM26_uc003nps.1_Silent_p.V446V|TRIM26_uc010jry.1_Silent_p.V176V|TRIM26_uc003npt.1_Silent_p.V446V	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	446	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.181818	7.087627	9.180081	4	18	CC		KEEP	---	---	---	---	capture			Silent	SNP	30261914	30261914	17044	6	C	T	T	29	29	TRIM26	T	2	2
TRIM39	56658	broad.mit.edu	36	6	30416107	30416107	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30416107G>T	uc010jrz.1	+	c.883G>T	c.(883-885)GAA>TAA	p.E295*	TRIM39_uc003npz.1_Intron|TRIM39_uc003nqa.1_Nonsense_Mutation_p.E295*|TRIM39_uc003nqb.1_Intron|TRIM39_uc003nqc.1_Intron|TRIM39_uc010jsa.1_Intron	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	295					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3														0.58427	147.796825	148.345736	52	37	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	30416107	30416107	17057	6	G	T	T	33	33	TRIM39	T	5	3
PPP1R10	5514	broad.mit.edu	36	6	30678265	30678265	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30678265C>T	uc003nqn.1	-	c.2140G>A	c.(2140-2142)GAA>AAA	p.E714K	PPP1R10_uc010jsc.1_Missense_Mutation_p.E368K	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	714	Gly-rich.				protein import into nucleus	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|transcription regulator activity|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4														0.253333	43.092868	47.23405	19	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30678265	30678265	12787	6	C	T	T	31	31	PPP1R10	T	1	1
DHX16	8449	broad.mit.edu	36	6	30729118	30729118	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30729118C>A	uc003nqz.1	-	c.3006G>T	c.(3004-3006)GAG>GAT	p.E1002D	DHX16_uc003nqy.1_Missense_Mutation_p.E521D	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	1002					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4														0.549451	141.444508	141.636686	50	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30729118	30729118	4681	6	C	A	A	32	32	DHX16	A	3	3
DHX16	8449	broad.mit.edu	36	6	30732822	30732822	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30732822C>A	uc003nqz.1	-	c.2034G>T	c.(2032-2034)GAG>GAT	p.E678D	DHX16_uc003nqy.1_Missense_Mutation_p.E197D	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	678	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4														0.181034	36.101951	47.200934	21	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30732822	30732822	4681	6	C	A	A	32	32	DHX16	A	3	3
KIAA1949	170954	broad.mit.edu	36	6	30760893	30760893	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30760893C>T	uc003nrb.2	-	c.882G>A	c.(880-882)GAG>GAA	p.E294E	KIAA1949_uc003nra.1_Silent_p.E294E	NM_133471	NP_597728	Q6NYC8	PHTNS_HUMAN	phostensin	294						cytoplasm|cytoskeleton	actin binding				0														0.243478	118.469459	132.280529	56	174	CC		KEEP	---	---	---	---	capture			Silent	SNP	30760893	30760893	8574	6	C	T	T	28	28	KIAA1949	T	2	2
MDC1	9656	broad.mit.edu	36	6	30779736	30779736	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30779736C>T	uc003nrg.2	-	c.5203G>A	c.(5203-5205)GCT>ACT	p.A1735T	MDC1_uc003nrf.2_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA damage checkpoint 1	1735	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4														0.291667	105.384191	110.987466	42	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30779736	30779736	9792	6	C	T	T	28	28	MDC1	T	2	2
MDC1	9656	broad.mit.edu	36	6	30783959	30783959	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30783959C>A	uc003nrg.2	-	c.2376G>T	c.(2374-2376)GAG>GAT	p.E792D	MDC1_uc003nrf.2_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA damage checkpoint 1	792				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4														0.573379	478.689238	480.057425	168	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30783959	30783959	9792	6	C	A	A	32	32	MDC1	A	3	3
MDC1	9656	broad.mit.edu	36	6	30788634	30788634	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30788634C>T	uc003nrg.2	-	c.1064G>A	c.(1063-1065)GGA>GAA	p.G355E	MDC1_uc003nrf.2_Missense_Mutation_p.G9E|MDC1_uc003nrh.1_Missense_Mutation_p.G227E|MDC1_uc003nri.1_Missense_Mutation_p.G355E	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA damage checkpoint 1	355	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4														0.225	122.441213	139.10577	54	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30788634	30788634	9792	6	C	T	T	30	30	MDC1	T	2	2
FLOT1	10211	broad.mit.edu	36	6	30817561	30817561	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30817561G>T	uc003nrm.1	-	c.106C>A	c.(106-108)CAA>AAA	p.Q36K		NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	36						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0														0.442748	157.301016	157.679375	58	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30817561	30817561	6178	6	G	T	T	47	47	FLOT1	T	3	3
DDR1	780	broad.mit.edu	36	6	30972388	30972388	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30972388G>A	uc003nrv.1	+	c.1636G>A	c.(1636-1638)GAC>AAC	p.D546N	DDR1_uc010jse.1_Missense_Mutation_p.D509N|DDR1_uc003nrq.1_Missense_Mutation_p.D509N|DDR1_uc003nrs.1_Missense_Mutation_p.D546N|DDR1_uc003nrt.1_Missense_Mutation_p.D509N|DDR1_uc003nrr.1_Missense_Mutation_p.D546N|DDR1_uc003nru.1_Missense_Mutation_p.D509N|DDR1_uc003nrw.1_Intron|DDR1_uc003nry.1_Intron|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	546	Gly/Pro-rich.|Cytoplasmic (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)					411				0.275676	121.21971	129.559045	51	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30972388	30972388	4507	6	G	A	A	41	41	DDR1	A	2	2
VARS2	57176	broad.mit.edu	36	6	30997721	30997721	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30997721C>A	uc003nsc.1	+	c.1776C>A	c.(1774-1776)TTC>TTA	p.F592L	VARS2_uc010jsg.1_Intron|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	592					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4														0.55794	359.635545	360.313985	130	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30997721	30997721	17689	6	C	A	A	30	30	VARS2	A	3	3
VARS2	57176	broad.mit.edu	36	6	31001679	31001679	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31001679G>A	uc003nsc.1	+	c.3005G>A	c.(3004-3006)CGA>CAA	p.R1002Q	VARS2_uc010jsg.1_Missense_Mutation_p.R374Q|VARS2_uc010jsh.1_Missense_Mutation_p.R146Q	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	1002					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4														0.311765	132.806694	138.173886	53	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31001679	31001679	17689	6	G	A	A	37	37	VARS2	A	1	1
MUC21	394263	broad.mit.edu	36	6	31063037	31063037	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31063037C>T	uc003nsh.2	+	c.1106C>T	c.(1105-1107)TCC>TTC	p.S369F	MUC21_uc003nsi.1_Non-coding_Transcript	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21	369	23.|Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)	1														0.257831	231.726952	253.818308	107	308	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31063037	31063037	10371	6	C	T	T	30	30	MUC21	T	2	2
CDSN	1041	broad.mit.edu	36	6	31191846	31191846	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31191846G>T	uc003nsm.1	-	c.1525C>A	c.(1525-1527)CTG>ATG	p.L509M	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin precursor	509					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			ovary(1)|pancreas(1)	2														0.267176	76.251894	82.676615	35	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31191846	31191846	3308	6	G	T	T	33	33	CDSN	T	3	3
CCHCR1	54535	broad.mit.edu	36	6	31230409	31230409	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31230409G>A	uc003nsp.2	-	c.644C>T	c.(643-645)GCC>GTC	p.A215V	CCHCR1_uc003nsq.2_Missense_Mutation_p.A179V|CCHCR1_uc003nsr.2_Missense_Mutation_p.A126V|CCHCR1_uc010jsk.1_Missense_Mutation_p.A126V	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	126	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding				0														0.316129	108.051658	112.696615	49	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31230409	31230409	3002	6	G	A	A	42	42	CCHCR1	A	2	2
TCF19	6941	broad.mit.edu	36	6	31237446	31237446	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31237446G>A	uc003nss.1	+	c.482G>A	c.(481-483)CGG>CAG	p.R161Q	TCF19_uc003nst.1_Missense_Mutation_p.R161Q	NM_001077511	NP_009040	Q9Y242	TCF19_HUMAN	transcription factor 19	161					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.275641	107.752924	114.82757	43	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31237446	31237446	16215	6	G	A	A	39	39	TCF19	A	1	1
POU5F1	5460	broad.mit.edu	36	6	31246170	31246170	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31246170G>A	uc003nsv.1	-	c.207C>T	c.(205-207)TTC>TTT	p.F69F		NM_002701	NP_002692	Q01860	PO5F1_HUMAN	POU domain, class 5, transcription factor 1	69					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|gene-specific transcription from RNA polymerase II promoter|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of SMAD protein import into nucleus|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|regulation of transcription, DNA-dependent|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|promoter binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulator activity|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	skin(7)|salivary_gland(2)|bone(2)	11										210				0.166667	15.408188	21.735448	10	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	31246170	31246170	12711	6	G	A	A	33	33	POU5F1	A	2	2
HLA-C	3107	broad.mit.edu	36	6	31346012	31346012	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31346012G>A	uc003nsz.1	-	c.849C>T	c.(847-849)TGC>TGT	p.C283C	HLA-C_uc003nsx.1_Silent_p.C162C|HLA-C_uc003nsy.1_Silent_p.C283C|HLA-C_uc010jsl.1_Silent_p.C283C|HLA-C_uc003nta.1_Silent_p.C283C|HLA-C_uc003ntb.1_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	283	Extracellular (Potential).|Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0														0.5	19.423083	19.423083	7	7	GG		KEEP	---	---	---	---	capture			Silent	SNP	31346012	31346012	7488	6	G	A	A	42	42	HLA-C	A	2	2
BAT1	7919	broad.mit.edu	36	6	31606915	31606915	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31606915C>T	uc003ntt.1	-	c.1016G>A	c.(1015-1017)CGA>CAA	p.R339Q	BAT1_uc003ntq.1_Missense_Mutation_p.R72Q|BAT1_uc003ntr.1_Missense_Mutation_p.R146Q|BAT1_uc003nts.1_Missense_Mutation_p.R339Q|BAT1_uc003ntu.1_Missense_Mutation_p.R339Q|BAT1_uc003ntv.1_Missense_Mutation_p.R339Q	NM_004640	NP_542165	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	339	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0														0.208696	50.144352	59.175833	24	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31606915	31606915	1339	6	C	T	T	31	31	BAT1	T	1	1
ATP6V1G2	534	broad.mit.edu	36	6	31621250	31621250	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31621250T>C	uc003nua.1	-	c.271A>G	c.(271-273)AAC>GAC	p.N91D	BAT1_uc003ntv.1_Intron|ATP6V1G2_uc003ntz.1_Missense_Mutation_p.N50D|NFKBIL1_uc003nub.1_5'Flank|NFKBIL1_uc003nuc.1_5'Flank	NM_130463	NP_612139	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal, V1 subunit	91					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding				0														0.264151	41.929395	44.592173	14	39	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31621250	31621250	1206	6	T	C	C	64	64	ATP6V1G2	C	4	4
NFKBIL1	4795	broad.mit.edu	36	6	31623976	31623976	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31623976C>T	uc003nub.1	+	c.115C>T	c.(115-117)CGT>TGT	p.R39C	BAT1_uc003ntv.1_5'Flank|ATP6V1G2_uc003ntz.1_5'Flank|ATP6V1G2_uc003nua.1_5'Flank|NFKBIL1_uc003nuc.1_Missense_Mutation_p.R39C	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene	39					cytoplasmic sequestering of transcription factor		protein binding				0														0.647619	203.422162	205.442739	68	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31623976	31623976	10781	6	C	T	T	31	31	NFKBIL1	T	1	1
TNF	7124	broad.mit.edu	36	6	31652560	31652560	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31652560C>T	uc003nui.1	+	c.270C>T	c.(268-270)GCC>GCT	p.A90A	TNF_uc003nuj.1_5'UTR	NM_000594	NP_000585	P01375	TNFA_HUMAN	tumor necrosis factor alpha	90	Extracellular (Potential).				activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of gene-specific transcription|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|promoter binding|protease binding|transcription activator activity|transcription repressor activity|tumor necrosis factor receptor binding			ovary(1)|pancreas(1)|skin(1)	3		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)					43				0.224199	149.525844	169.137367	63	218	CC		KEEP	---	---	---	---	capture			Silent	SNP	31652560	31652560	16812	6	C	T	T	22	22	TNF	T	2	2
BAT2	7916	broad.mit.edu	36	6	31712101	31712101	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31712101C>A	uc003nvb.2	+	c.5761C>A	c.(5761-5763)CTC>ATC	p.L1921I	BAT2_uc003nvc.2_Missense_Mutation_p.L1921I	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1921	3-1.|3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding				0														0.592857	206.153678	207.177945	83	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31712101	31712101	1340	6	C	A	A	32	32	BAT2	A	3	3
BAT3	7917	broad.mit.edu	36	6	31715342	31715342	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31715342C>T	uc003nvg.2	-	c.3217G>A	c.(3217-3219)GCA>ACA	p.A1073T	BAT3_uc003nvf.2_Missense_Mutation_p.A1067T|BAT3_uc003nvh.2_Missense_Mutation_p.A1067T|BAT3_uc003nvi.2_Missense_Mutation_p.A1067T	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	1073					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										141				0.198113	41.425244	50.413133	21	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31715342	31715342	1343	6	C	T	T	26	26	BAT3	T	2	2
BAT3	7917	broad.mit.edu	36	6	31721239	31721239	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31721239C>T	uc003nvg.2	-	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q	BAT3_uc003nvf.2_Missense_Mutation_p.R347Q|BAT3_uc003nvh.2_Missense_Mutation_p.R347Q|BAT3_uc003nvi.2_Missense_Mutation_p.R347Q|BAT3_uc003nvj.1_Missense_Mutation_p.R347Q	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	353	4 X 29 AA approximate repeats.				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										141				0.292683	114.443808	120.750759	48	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31721239	31721239	1343	6	C	T	T	31	31	BAT3	T	1	1
BAT4	7918	broad.mit.edu	36	6	31738078	31738078	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31738078C>A	uc003nvn.1	-	c.1015G>T	c.(1015-1017)GAG>TAG	p.E339*	C6orf47_uc003nvm.1_5'Flank|BAT4_uc003nvo.2_Nonsense_Mutation_p.E339*|BAT4_uc003nvp.2_Nonsense_Mutation_p.E339*|BAT4_uc003nvq.1_Nonsense_Mutation_p.E339*	NM_033177	NP_149417	O95872	GPAN1_HUMAN	HLA-B associated transcript 4	339						intracellular	nucleic acid binding				0														0.229508	82.937212	95.234931	42	141	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	31738078	31738078	1344	6	C	A	A	30	30	BAT4	A	5	3
LY6G5C	80741	broad.mit.edu	36	6	31754886	31754886	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31754886C>T	uc003nvu.1	-	c.251G>A	c.(250-252)AGC>AAC	p.S84N	LY6G5C_uc003nvw.1_Non-coding_Transcript|LY6G5C_uc010jtb.1_Non-coding_Transcript	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex G5C	87	UPAR/Ly6.					extracellular region					0														0.559524	574.813002	575.847368	188	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31754886	31754886	9470	6	C	T	T	28	28	LY6G5C	T	2	2
BAT5	7920	broad.mit.edu	36	6	31777054	31777055	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31777054_31777055CG>TA	uc003nvy.1	-	c.231_232CG>TA	c.(229-234)TTCGCC>TTTACC	p.A78T	BAT5_uc003nvx.1_5'UTR|BAT5_uc003nvz.1_Intron|BAT5_uc010jtc.1_Intron	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	78	Helical; (Potential).					integral to membrane	hydrolase activity|protein binding				0														0.574074	86.81656	87.072872	31	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	31777054	31777055	1345	6	CG	TA	TA	27	27	BAT5	TA	1	1
LY6G6F	259215	broad.mit.edu	36	6	31783785	31783785	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31783785C>T	uc003nwb.1	+	c.541C>T	c.(541-543)CTC>TTC	p.L181F	LY6G6F_uc003nwa.1_Missense_Mutation_p.L181F	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	G6f protein	181	Extracellular (Potential).					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)	2														0.285714	136.314269	144.970116	60	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31783785	31783785	9473	6	C	T	T	28	28	LY6G6F	T	2	2
DDAH2	23564	broad.mit.edu	36	6	31804043	31804043	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31804043G>A	uc003nwp.1	-	c.477C>T	c.(475-477)TTC>TTT	p.F159F	DDAH2_uc003nwq.1_Silent_p.F159F	NM_013974	NP_039268	O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	159					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding				0					L-Citrulline(DB00155)									0.517647	124.88583	124.908358	44	41	GG		KEEP	---	---	---	---	capture			Silent	SNP	31804043	31804043	4493	6	G	A	A	37	37	DDAH2	A	1	1
MSH5	4439	broad.mit.edu	36	6	31818696	31818696	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31818696G>A	uc003nwt.1	+	c.335G>A	c.(334-336)CGA>CAA	p.R112Q	MSH5_uc003nwu.1_Missense_Mutation_p.R112Q|MSH5_uc003nwv.1_Missense_Mutation_p.R112Q|MSH5_uc003nww.1_Missense_Mutation_p.R112Q|MSH5_uc003nwx.1_Missense_Mutation_p.R112Q	NM_025259	NP_079535	O43196	MSH5_HUMAN	mutS homolog 5 isoform a	112					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|meiotic prophase II|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3									p.R112Q(JHUEM7-Tumor)	274				0.612903	402.403982	404.825915	133	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31818696	31818696	10266	6	G	A	A	37	37	MSH5	A	1	1
MSH5	4439	broad.mit.edu	36	6	31836548	31836548	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31836548G>A	uc003nwt.1	+	c.1966G>A	c.(1966-1968)GAA>AAA	p.E656K	MSH5_uc003nwu.1_Missense_Mutation_p.E639K|MSH5_uc003nwv.1_Missense_Mutation_p.E639K|MSH5_uc003nww.1_Missense_Mutation_p.E639K|MSH5_uc003nwx.1_Missense_Mutation_p.E656K|MSH5_uc003nwy.1_Missense_Mutation_p.E313K|MSH5_uc003nwz.2_Non-coding_Transcript|C6orf26_uc003nxa.2_5'Flank	NM_025259	NP_079535	O43196	MSH5_HUMAN	mutS homolog 5 isoform a	639					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|meiotic prophase II|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3										274				0.257143	61.769666	67.388858	27	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31836548	31836548	10266	6	G	A	A	37	37	MSH5	A	1	1
MSH5	4439	broad.mit.edu	36	6	31837262	31837262	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31837262G>A	uc003nwt.1	+	c.2123G>A	c.(2122-2124)CGA>CAA	p.R708Q	MSH5_uc003nwu.1_Missense_Mutation_p.R692Q|MSH5_uc003nwv.1_Missense_Mutation_p.R691Q|MSH5_uc003nww.1_Missense_Mutation_p.R691Q|MSH5_uc003nwx.1_Missense_Mutation_p.R709Q|MSH5_uc003nwy.1_Missense_Mutation_p.R365Q|MSH5_uc003nwz.2_Non-coding_Transcript|C6orf26_uc003nxa.2_5'Flank	NM_025259	NP_079535	O43196	MSH5_HUMAN	mutS homolog 5 isoform a	691					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|meiotic prophase II|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3										274				0.659686	373.124088	377.413314	126	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31837262	31837262	10266	6	G	A	A	37	37	MSH5	A	1	1
C6orf27	80737	broad.mit.edu	36	6	31842038	31842038	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31842038C>T	uc003nxb.2	-	c.2287G>A	c.(2287-2289)GTC>ATC	p.V763I	C6orf27_uc003nxd.2_Missense_Mutation_p.V438I	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein	763						extracellular region				ovary(3)	3														0.48	33.497573	33.506278	12	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31842038	31842038	2467	6	C	T	T	19	19	C6orf27	T	1	1
VARS	7407	broad.mit.edu	36	6	31856653	31856653	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31856653G>A	uc003nxe.1	-	c.2691C>T	c.(2689-2691)AGC>AGT	p.S897S	VARS_uc003nxf.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	897					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			ovary(1)	1					L-Valine(DB00161)									0.352941	77.422422	79.044232	30	55	GG		KEEP	---	---	---	---	capture			Silent	SNP	31856653	31856653	17688	6	G	A	A	38	38	VARS	A	1	1
LSM2	57819	broad.mit.edu	36	6	31873594	31873594	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31873594G>A	uc003nxg.1	-	c.207C>T	c.(205-207)TAC>TAT	p.Y69Y	VARS_uc003nxe.1_5'Flank	NM_021177	NP_067000	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated	69					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding				0														0.280453	227.648951	242.903805	99	254	GG		KEEP	---	---	---	---	capture			Silent	SNP	31873594	31873594	9432	6	G	A	A	40	40	LSM2	A	1	1
HSPA1L	3305	broad.mit.edu	36	6	31886154	31886154	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31886154C>A	uc003nxh.1	-	c.1575G>T	c.(1573-1575)GAG>GAT	p.E525D	HSPA1L_uc010jte.1_Missense_Mutation_p.E525D|HSPA1L_uc010jtf.1_Missense_Mutation_p.E525D	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	525					response to unfolded protein		ATP binding			ovary(3)|kidney(1)|pleura(1)	5										2				0.244399	258.515686	287.778963	120	371	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31886154	31886154	7709	6	C	A	A	32	32	HSPA1L	A	3	3
HSPA1L	3305	broad.mit.edu	36	6	31886476	31886476	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31886476C>T	uc003nxh.1	-	c.1253G>A	c.(1252-1254)CGC>CAC	p.R418H	HSPA1L_uc010jte.1_Missense_Mutation_p.R418H|HSPA1L_uc010jtf.1_Missense_Mutation_p.R418H	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	418					response to unfolded protein		ATP binding			ovary(3)|kidney(1)|pleura(1)	5										2				0.225806	95.278692	110.265184	49	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31886476	31886476	7709	6	C	T	T	27	27	HSPA1L	T	1	1
SLC44A4	80736	broad.mit.edu	36	6	31946574	31946574	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31946574C>T	uc010jti.1	-	c.931G>A	c.(931-933)GCC>ACC	p.A311T		NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	311	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)									0.214286	29.081556	35.371229	18	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31946574	31946574	15135	6	C	T	T	26	26	SLC44A4	T	2	2
EHMT2	10919	broad.mit.edu	36	6	31968213	31968213	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31968213G>T	uc003nxz.1	-	c.814C>A	c.(814-816)CTC>ATC	p.L272I	EHMT2_uc003nxy.1_Missense_Mutation_p.L63I|EHMT2_uc003nya.1_Missense_Mutation_p.L272I	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	272					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1														0.172414	29.91181	41.701129	20	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31968213	31968213	5173	6	G	T	T	33	33	EHMT2	T	3	3
C2	717	broad.mit.edu	36	6	32019720	32019720	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32019720G>A	uc003nyf.1	+	c.1781G>A	c.(1780-1782)AGA>AAA	p.R594K	C2_uc003nyc.1_Missense_Mutation_p.R381K|C2_uc010jtk.1_Missense_Mutation_p.R462K|C2_uc003nyg.1_Missense_Mutation_p.R371K|C2_uc003nyh.1_Missense_Mutation_p.R245K|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.2_5'Flank	NM_000063	NP_000054	P06681	CO2_HUMAN	complement component 2 precursor	594	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)	1		Ovarian(999;0.00965)												0.284211	70.183492	74.156481	27	68	GG		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(999;0.247)	Missense_Mutation	SNP	32019720	32019720	2150	6	G	A	A	33	33	C2	A	2	2
C2	717	broad.mit.edu	36	6	32021031	32021031	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32021031G>A	uc003nyf.1	+	c.2177G>A	c.(2176-2178)CGA>CAA	p.R726Q	C2_uc003nyg.1_Missense_Mutation_p.R503Q|C2_uc003nyh.1_3'UTR|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.2_5'Flank	NM_000063	NP_000054	P06681	CO2_HUMAN	complement component 2 precursor	726	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)	1		Ovarian(999;0.00965)												0.637255	390.282645	393.661884	130	74	GG		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(999;0.247)	Missense_Mutation	SNP	32021031	32021031	2150	6	G	A	A	37	37	C2	A	1	1
CFB	629	broad.mit.edu	36	6	32023536	32023536	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32023536G>T	uc003nyj.2	+	c.697G>T	c.(697-699)GCT>TCT	p.A233S	CFB_uc003nyi.2_Missense_Mutation_p.A233S	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	233					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity				0														0.234192	223.370528	250.990211	100	327	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32023536	32023536	3411	6	G	T	T	34	34	CFB	T	3	3
CFB	629	broad.mit.edu	36	6	32027681	32027681	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32027681G>A	uc003nyj.2	+	c.2190G>A	c.(2188-2190)CGG>CGA	p.R730R		NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	730	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity				0														0.354167	362.470501	369.63263	136	248	GG		KEEP	---	---	---	---	capture			Silent	SNP	32027681	32027681	3411	6	G	A	A	42	42	CFB	A	2	2
SKIV2L	6499	broad.mit.edu	36	6	32038545	32038545	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32038545C>T	uc003nyn.1	+	c.1287C>T	c.(1285-1287)AAC>AAT	p.N429N		NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	429	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4														0.313043	90.458568	94.036417	36	79	CC		KEEP	---	---	---	---	capture			Silent	SNP	32038545	32038545	14854	6	C	T	T	19	19	SKIV2L	T	1	1
SKIV2L	6499	broad.mit.edu	36	6	32043594	32043594	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32043594G>A	uc003nyn.1	+	c.2707G>A	c.(2707-2709)GGA>AGA	p.G903R		NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	903						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4														0.6	370.673381	372.334439	114	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32043594	32043594	14854	6	G	A	A	43	43	SKIV2L	A	2	2
DOM3Z	1797	broad.mit.edu	36	6	32046186	32046186	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32046186C>T	uc003nyo.1	-	c.861G>A	c.(859-861)CCG>CCA	p.P287P	DOM3Z_uc003nyp.1_Silent_p.P287P|DOM3Z_uc003nyq.1_Silent_p.P28P|DOM3Z_uc003nyr.1_Silent_p.P287P|DOM3Z_uc003nys.1_3'UTR|STK19_uc003nyt.1_5'Flank|STK19_uc010jtm.1_5'Flank|STK19_uc003nyv.1_5'Flank|STK19_uc003nyw.1_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	DOM-3 homolog Z	287							identical protein binding|metal ion binding|nucleotide binding				0										1				0.9	441.612859	467.190277	144	16	CC		KEEP	---	---	---	---	capture			Silent	SNP	32046186	32046186	4889	6	C	T	T	31	31	DOM3Z	T	1	1
DOM3Z	1797	broad.mit.edu	36	6	32046486	32046486	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32046486G>A	uc003nyo.1	-	c.688C>T	c.(688-690)CTC>TTC	p.L230F	DOM3Z_uc003nyp.1_Missense_Mutation_p.L230F|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.L230F|DOM3Z_uc003nys.1_3'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.1_5'Flank|STK19_uc010jtm.1_5'Flank|STK19_uc003nyv.1_5'Flank|STK19_uc003nyw.1_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	DOM-3 homolog Z	230							identical protein binding|metal ion binding|nucleotide binding				0										1				0.123967	16.16054	32.877754	15	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32046486	32046486	4889	6	G	A	A	34	34	DOM3Z	A	2	2
STK19	8859	broad.mit.edu	36	6	32055250	32055250	+	Missense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32055250C>G	uc003nyv.1	+	c.756C>G	c.(754-756)GAC>GAG	p.D252E	STK19_uc003nyt.1_Missense_Mutation_p.D205E|STK19_uc010jtm.1_Missense_Mutation_p.D205E|STK19_uc003nyw.1_Missense_Mutation_p.D248E|STK19_uc010jtn.1_Non-coding_Transcript|C4B_uc003nyy.2_5'Flank|C4B_uc010jto.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	serine/threonine kinase 19 isoform 2	252					protein phosphorylation	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(4)	4										192				0.191083	75.562784	89.558925	30	127	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32055250	32055250	15812	6	C	G	G	18	18	STK19	G	3	3
TNXB	7148	broad.mit.edu	36	6	32120976	32120976	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32120976G>A	uc003nzl.2	-	c.10706C>T	c.(10705-10707)TCC>TTC	p.S3569F	TNXB_uc003nzg.1_5'UTR|TNXB_uc003nzh.1_Missense_Mutation_p.S38F	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3616	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.355932	53.330207	54.420735	21	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32120976	32120976	16887	6	G	A	A	41	41	TNXB	A	2	2
TNXB	7148	broad.mit.edu	36	6	32137293	32137293	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32137293G>A	uc003nzl.2	-	c.7351C>T	c.(7351-7353)CGG>TGG	p.R2451W		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2511	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.336066	99.523135	102.430701	41	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32137293	32137293	16887	6	G	A	A	38	38	TNXB	A	1	1
TNXB	7148	broad.mit.edu	36	6	32143593	32143593	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32143593C>T	uc003nzl.2	-	c.6367G>A	c.(6367-6369)GAC>AAC	p.D2123N		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2195	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.300971	74.023613	77.647014	31	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32143593	32143593	16887	6	C	T	T	31	31	TNXB	T	1	1
TNXB	7148	broad.mit.edu	36	6	32165023	32165023	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32165023G>A	uc003nzl.2	-	c.2470C>T	c.(2470-2472)CGA>TGA	p.R824*		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	776					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.217391	20.727005	24.113961	10	36	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	32165023	32165023	16887	6	G	A	A	37	37	TNXB	A	5	1
ATF6B	1388	broad.mit.edu	36	6	32202915	32202915	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32202915G>A	uc003nzn.1	-	c.285C>T	c.(283-285)TGC>TGT	p.C95C	ATF6B_uc003nzo.1_Silent_p.C92C|ATF6B_uc003nzq.2_Silent_p.C95C	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	95	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.3	30.882759	32.313293	12	28	GG		KEEP	---	---	---	---	capture			Silent	SNP	32202915	32202915	1104	6	G	A	A	34	34	ATF6B	A	2	2
ATF6B	1388	broad.mit.edu	36	6	32203455	32203455	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32203455G>A	uc003nzn.1	-	c.142C>T	c.(142-144)CTC>TTC	p.L48F	ATF6B_uc003nzo.1_Missense_Mutation_p.L45F|ATF6B_uc003nzq.2_Missense_Mutation_p.L48F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	48	Cytoplasmic (Potential).|Transcription activation.				regulation of transcription, DNA-dependent|response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.262411	87.874399	95.03595	37	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32203455	32203455	1104	6	G	A	A	34	34	ATF6B	A	2	2
PBX2	5089	broad.mit.edu	36	6	32263743	32263743	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32263743G>A	uc003oav.1	-	c.712C>T	c.(712-714)CGC>TGC	p.R238C	PBX2_uc003oaw.2_Missense_Mutation_p.R238C	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	238							transcription factor binding|transcription regulator activity			ovary(1)	1														0.764706	38.47287	39.559389	13	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32263743	32263743	11913	6	G	A	A	38	38	PBX2	A	1	1
PBX2	5089	broad.mit.edu	36	6	32265470	32265470	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32265470G>A	uc003oav.1	-	c.201C>T	c.(199-201)AGC>AGT	p.S67S	PBX2_uc003oaw.2_Silent_p.S67S	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	67							transcription factor binding|transcription regulator activity			ovary(1)	1														0.60177	200.8086	201.830422	68	45	GG		KEEP	---	---	---	---	capture			Silent	SNP	32265470	32265470	11913	6	G	A	A	42	42	PBX2	A	2	2
NOTCH4	4855	broad.mit.edu	36	6	32273095	32273095	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32273095G>T	uc003obb.1	-	c.5011C>A	c.(5011-5013)CTT>ATT	p.L1671I	GPSM3_uc003oaz.1_5'Flank|NOTCH4_uc003oba.1_Missense_Mutation_p.L331I	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1671	Cytoplasmic (Potential).|ANK 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.208696	46.430084	55.47408	24	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32273095	32273095	10954	6	G	T	T	35	35	NOTCH4	T	3	3
NOTCH4	4855	broad.mit.edu	36	6	32278285	32278285	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32278285G>A	uc003obb.1	-	c.3301C>T	c.(3301-3303)CTG>TTG	p.L1101L	NOTCH4_uc003oba.1_5'UTR	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1101	EGF-like 28.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.265306	33.356733	35.793422	13	36	GG		KEEP	---	---	---	---	capture			Silent	SNP	32278285	32278285	10954	6	G	A	A	35	35	NOTCH4	A	2	2
NOTCH4	4855	broad.mit.edu	36	6	32298414	32298414	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32298414G>T	uc003obb.1	-	c.303C>A	c.(301-303)TTC>TTA	p.F101L	NOTCH4_uc003obc.2_Missense_Mutation_p.F101L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	101	Extracellular (Potential).|EGF-like 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.553333	228.202913	228.57038	83	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32298414	32298414	10954	6	G	T	T	33	33	NOTCH4	T	3	3
NOTCH4	4855	broad.mit.edu	36	6	32298836	32298836	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32298836G>A	uc003obb.1	-	c.79C>T	c.(79-81)CTG>TTG	p.L27L	NOTCH4_uc003obc.2_Silent_p.L27L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	27	Extracellular (Potential).|EGF-like 1.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.273973	185.053626	198.509855	80	212	GG		KEEP	---	---	---	---	capture			Silent	SNP	32298836	32298836	10954	6	G	A	A	34	34	NOTCH4	A	2	2
C6orf10	10665	broad.mit.edu	36	6	32375683	32375683	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32375683G>A	uc003obe.1	-	c.631C>T	c.(631-633)CCT>TCT	p.P211S	C6orf10_uc003obf.1_Missense_Mutation_p.P209S|C6orf10_uc010jtx.1_Missense_Mutation_p.P209S	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	211						integral to membrane					0														0.191919	39.564943	48.344558	19	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32375683	32375683	2418	6	G	A	A	41	41	C6orf10	A	2	2
HLA-DRA	3122	broad.mit.edu	36	6	32515764	32515764	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32515764C>T	uc003obh.1	+	c.59C>T	c.(58-60)GCT>GTT	p.A20V	HLA-DRA_uc003obi.1_Missense_Mutation_p.A20V	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	20					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	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)	1														0.561644	130.780348	131.021407	41	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32515764	32515764	7498	6	C	T	T	28	28	HLA-DRA	T	2	2
HLA-DRB5	3127	broad.mit.edu	36	6	32595236	32595236	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32595236C>A	uc003obj.1	-	c.541G>T	c.(541-543)GAC>TAC	p.D181Y	HLA-DRB5_uc003obk.2_Missense_Mutation_p.D181Y	NM_002125	NP_002116	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR	181	Ig-like C1-type.|Beta-2.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0														0.351515	284.063515	290.496815	116	214	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32595236	32595236	7500	6	C	A	A	32	32	HLA-DRB5	A	3	3
HLA-DRB1	3123	broad.mit.edu	36	6	32659981	32659981	+	Missense_Mutation	SNP	G	A	A	rs17887012	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32659981G>A	uc003obp.2	-	c.253C>T	c.(253-255)CCT>TCT	p.P85S	HLA-DRB5_uc003obk.2_Intron|HLA-DRB1_uc003obl.2_Intron|HLA-DRB6_uc003obo.1_Non-coding_Transcript	NM_002124	NP_002115	P01911	2B1F_HUMAN	major histocompatibility complex, class II, DR	85	Beta-1.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0											Multiple Myeloma(14;0.17)			0.127273	7.711744	15.144443	7	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32659981	32659981	7499	6	G	A	A	42	42	HLA-DRB1	A	2	2
HLA-DQB1	3119	broad.mit.edu	36	6	32740733	32740733	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32740733C>T	uc003obv.2	-	c.199G>A	c.(199-201)GAG>AAG	p.E67K	HLA-DQB1_uc010juc.1_Missense_Mutation_p.E22K|HLA-DQB1_uc003obw.2_Missense_Mutation_p.E67K	NM_002123	NP_002114	P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ	67	Extracellular (Potential).|Beta-1.				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	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	Esophageal Squamous(151;720 1825 15000 40336 43415)								0.530612	160.298056	160.377426	52	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32740733	32740733	7497	6	C	T	T	32	32	HLA-DQB1	T	2	2
HLA-DMA	3108	broad.mit.edu	36	6	33026363	33026363	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33026363G>T	uc003ocm.1	-	c.284C>A	c.(283-285)GCT>GAT	p.A95D		NM_006120	NP_006111	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM	95						integral to membrane|MHC class II protein complex					0														0.598985	349.139385	350.822706	118	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33026363	33026363	7489	6	G	T	T	34	34	HLA-DMA	T	3	3
COL11A2	1302	broad.mit.edu	36	6	33253933	33253933	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33253933C>T	uc003ocx.1	-	c.1826G>A	c.(1825-1827)CGA>CAA	p.R609Q	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.R523Q|COL11A2_uc003ocz.1_Missense_Mutation_p.R502Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	609	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.22973	36.642293	41.595196	17	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33253933	33253933	3806	6	C	T	T	31	31	COL11A2	T	1	1
COL11A2	1302	broad.mit.edu	36	6	33254480	33254480	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33254480C>T	uc003ocx.1	-	c.1673G>A	c.(1672-1674)CGA>CAA	p.R558Q	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.R472Q|COL11A2_uc003ocz.1_Missense_Mutation_p.R451Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	558	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.577075	414.153497	415.463735	146	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33254480	33254480	3806	6	C	T	T	31	31	COL11A2	T	1	1
COL11A2	1302	broad.mit.edu	36	6	33265169	33265169	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33265169A>G	uc003ocx.1	-	c.138T>C	c.(136-138)GGT>GGC	p.G46G	COL11A2_uc003ocy.1_Silent_p.G46G|COL11A2_uc003ocz.1_Silent_p.G46G|COL11A2_uc003oda.2_Silent_p.G46G	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	46	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.446602	143.038613	143.293579	46	57	AA		KEEP	---	---	---	---	capture			Silent	SNP	33265169	33265169	3806	6	A	G	G	6	6	COL11A2	G	4	4
SLC39A7	7922	broad.mit.edu	36	6	33277540	33277540	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33277540T>G	uc003odf.1	+	c.452T>G	c.(451-453)TTT>TGT	p.F151C	RXRB_uc003odb.1_5'Flank|RXRB_uc003odc.1_5'Flank|RXRB_uc003odd.1_5'Flank|SLC39A7_uc003odg.1_Missense_Mutation_p.F151C|SLC39A7_uc003odh.1_5'Flank|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	151	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1														0.266667	102.546345	109.180576	36	99	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33277540	33277540	15120	6	T	G	G	64	64	SLC39A7	G	4	4
HSD17B8	7923	broad.mit.edu	36	6	33282152	33282152	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33282152C>A	uc003odi.1	+	c.717C>A	c.(715-717)TTC>TTA	p.F239L	MIR219-1_hsa-mir-219-1|MI0000296_5'Flank|RING1_uc003odk.1_5'Flank	NM_014234	NP_055049	Q92506	DHB8_HUMAN	estradiol 17 beta-dehydrogenase 8	239					estrogen biosynthetic process|fatty acid biosynthetic process|oxidation-reduction process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase activity			breast(1)|central_nervous_system(1)	2					NADH(DB00157)									0.276316	91.41856	98.318173	42	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33282152	33282152	7684	6	C	A	A	32	32	HSD17B8	A	3	3
VPS52	6293	broad.mit.edu	36	6	33326737	33326737	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33326737C>T	uc003odm.1	-	c.2031G>A	c.(2029-2031)GCG>GCA	p.A677A	VPS52_uc003odn.1_Silent_p.A488A	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	677					protein transport	endosome membrane|Golgi apparatus				ovary(4)	4														0.619565	170.39176	171.547356	57	35	CC		KEEP	---	---	---	---	capture			Silent	SNP	33326737	33326737	17781	6	C	T	T	27	27	VPS52	T	1	1
WDR46	9277	broad.mit.edu	36	6	33364122	33364122	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33364122T>G	uc003ods.1	-	c.464A>C	c.(463-465)GAA>GCA	p.E155A	WDR46_uc010jun.1_5'Flank|WDR46_uc010juo.1_Non-coding_Transcript|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank|PFDN6_uc010juq.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46	155											0														0.538117	832.457034	833.026772	240	206	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33364122	33364122	17872	6	T	G	G	62	62	WDR46	G	4	4
TAPBP	6892	broad.mit.edu	36	6	33389483	33389483	+	Silent	SNP	C	T	T	rs45501592	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33389483C>T	uc003odz.2	-	c.174G>A	c.(172-174)CCG>CCA	p.P58P	TAPBP_uc003odx.1_Silent_p.P58P|TAPBP_uc010jus.1_Silent_p.P58P|TAPBP_uc003ody.1_Silent_p.P58P|TAPBP_uc010jut.1_Silent_p.P58P|TAPBP_uc003oea.1_Silent_p.P58P	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	58	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1														0.213333	33.537196	39.26228	16	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	33389483	33389483	16073	6	C	T	T	23	23	TAPBP	T	1	1
DAXX	1616	broad.mit.edu	36	6	33394941	33394941	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33394941C>A	uc003oec.1	-	c.1974G>T	c.(1972-1974)AAG>AAT	p.K658N	ZBTB22_uc003oeb.1_5'Flank|ZBTB22_uc010juu.1_5'Flank|ZBTB22_uc010juv.1_5'Flank|DAXX_uc003oed.1_Missense_Mutation_p.K658N	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	658	Interaction with SPOP.				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)	22										125				0.252066	133.037937	146.568147	61	181	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33394941	33394941	4410	6	C	A	A	32	32	DAXX	A	3	3
SYNGAP1	8831	broad.mit.edu	36	6	33513893	33513893	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33513893C>A	uc003oep.1	+	c.1188C>A	c.(1186-1188)ATC>ATA	p.I396I	SYNGAP1_uc003oeo.1_Silent_p.I396I|SYNGAP1_uc010juy.1_Silent_p.I396I|SYNGAP1_uc010juz.1_Silent_p.I123I	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	411					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4														0.256917	137.320671	150.906485	65	188	CC		KEEP	---	---	---	---	capture			Silent	SNP	33513893	33513893	15968	6	C	A	A	32	32	SYNGAP1	A	3	3
SYNGAP1	8831	broad.mit.edu	36	6	33518889	33518889	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33518889C>T	uc003oep.1	+	c.2537C>T	c.(2536-2538)TCG>TTG	p.S846L	SYNGAP1_uc010juy.1_Missense_Mutation_p.S832L|SYNGAP1_uc010juz.1_Missense_Mutation_p.S573L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	861					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4														0.244444	47.309953	52.664023	22	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33518889	33518889	15968	6	C	T	T	31	31	SYNGAP1	T	1	1
SYNGAP1	8831	broad.mit.edu	36	6	33527564	33527564	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33527564C>T	uc003oep.1	+	c.3890C>T	c.(3889-3891)GCC>GTC	p.A1297V	SYNGAP1_uc010juy.1_Missense_Mutation_p.A1281V|SYNGAP1_uc010juz.1_3'UTR|ZBTB9_uc003oeq.1_5'Flank	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1312					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4														0.238095	9.983211	11.287457	5	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33527564	33527564	15968	6	C	T	T	26	26	SYNGAP1	T	2	2
ZBTB9	221504	broad.mit.edu	36	6	33530881	33530881	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33530881C>A	uc003oeq.1	+	c.26C>A	c.(25-27)CCT>CAT	p.P9H	ZBTB9_uc010jva.1_Missense_Mutation_p.P9H	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.350746	119.873143	122.511514	47	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33530881	33530881	18146	6	C	A	A	24	24	ZBTB9	A	3	3
ZBTB9	221504	broad.mit.edu	36	6	33531634	33531634	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33531634G>T	uc003oeq.1	+	c.779G>T	c.(778-780)CGA>CTA	p.R260L	ZBTB9_uc010jva.1_Missense_Mutation_p.R260L	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	260	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.265193	113.532668	122.547107	48	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33531634	33531634	18146	6	G	T	T	37	37	ZBTB9	T	3	3
ITPR3	3710	broad.mit.edu	36	6	33734834	33734834	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33734834C>T	uc010jvc.1	+	c.587C>T	c.(586-588)GCC>GTC	p.A196V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	196	Cytoplasmic (Potential).|MIR 2.				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			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.288889	131.940544	139.124415	52	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33734834	33734834	8226	6	C	T	T	26	26	ITPR3	T	2	2
ITPR3	3710	broad.mit.edu	36	6	33740634	33740634	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33740634C>T	uc010jvc.1	+	c.1158C>T	c.(1156-1158)TAC>TAT	p.Y386Y		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	386	Cytoplasmic (Potential).|MIR 5.				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			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.346939	42.966311	43.976758	17	32	CC		KEEP	---	---	---	---	capture			Silent	SNP	33740634	33740634	8226	6	C	T	T	19	19	ITPR3	T	1	1
ITPR3	3710	broad.mit.edu	36	6	33740693	33740693	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33740693A>G	uc010jvc.1	+	c.1217A>G	c.(1216-1218)GAC>GGC	p.D406G		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	406	Cytoplasmic (Potential).|MIR 5.				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			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.253731	45.546796	49.233154	17	50	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33740693	33740693	8226	6	A	G	G	10	10	ITPR3	G	4	4
ITPR3	3710	broad.mit.edu	36	6	33743687	33743687	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33743687C>T	uc010jvc.1	+	c.1854C>T	c.(1852-1854)TTC>TTT	p.F618F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	618	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			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.294872	55.599536	58.533627	23	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	33743687	33743687	8226	6	C	T	T	31	31	ITPR3	T	1	1
ITPR3	3710	broad.mit.edu	36	6	33749466	33749466	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33749466G>T	uc010jvc.1	+	c.3049G>T	c.(3049-3051)GAC>TAC	p.D1017Y		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1017	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			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.305263	136.859675	143.298827	58	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33749466	33749466	8226	6	G	T	T	37	37	ITPR3	T	3	3
ITPR3	3710	broad.mit.edu	36	6	33761258	33761258	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33761258G>T	uc010jvc.1	+	c.5452G>T	c.(5452-5454)GAC>TAC	p.D1818Y	ITPR3_uc003oey.1_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1818	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			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.545455	32.196099	32.235242	12	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33761258	33761258	8226	6	G	T	T	41	41	ITPR3	T	3	3
IP6K3	117283	broad.mit.edu	36	6	33801303	33801303	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33801303T>C	uc003ofb.1	-	c.658A>G	c.(658-660)ACC>GCC	p.T220A	IP6K3_uc010jvf.1_Missense_Mutation_p.T220A	NM_054111	NP_473452	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	220					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0														0.210084	57.718699	66.973269	25	94	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33801303	33801303	8091	6	T	C	C	58	58	IP6K3	C	4	4
IP6K3	117283	broad.mit.edu	36	6	33804029	33804029	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33804029C>T	uc003ofb.1	-	c.226G>A	c.(226-228)GAC>AAC	p.D76N	IP6K3_uc010jvf.1_Missense_Mutation_p.D76N	NM_054111	NP_473452	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	76					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0														0.578431	186.134937	186.681273	59	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33804029	33804029	8091	6	C	T	T	32	32	IP6K3	T	2	2
LEMD2	221496	broad.mit.edu	36	6	33848507	33848507	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33848507C>T	uc003ofd.1	-	c.1388G>A	c.(1387-1389)CGA>CAA	p.R463Q	LEMD2_uc010jvg.1_Missense_Mutation_p.R172Q|LEMD2_uc003ofe.1_Missense_Mutation_p.R161Q	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	LEM domain containing 2 isoform 1	463						integral to nuclear inner membrane				central_nervous_system(1)	1														0.272727	35.801886	38.362222	15	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33848507	33848507	9044	6	C	T	T	31	31	LEMD2	T	1	1
GRM4	2914	broad.mit.edu	36	6	34098624	34098624	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34098624C>T	uc003oir.2	-	c.2691G>A	c.(2689-2691)GCG>GCA	p.A897A	GRM4_uc010jvh.1_Silent_p.A897A|GRM4_uc010jvi.1_Silent_p.A589A|GRM4_uc010jvj.1_Silent_p.A781A|GRM4_uc003oio.1_Silent_p.A589A|GRM4_uc003oip.1_Non-coding_Transcript|GRM4_uc003oiq.1_Silent_p.A764A	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	897	Cytoplasmic (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.5	106.842755	106.842755	38	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	34098624	34098624	7078	6	C	T	T	27	27	GRM4	T	1	1
GRM4	2914	broad.mit.edu	36	6	34111898	34111898	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34111898C>T	uc003oir.2	-	c.1967G>A	c.(1966-1968)CGA>CAA	p.R656Q	GRM4_uc010jvh.1_Missense_Mutation_p.R656Q|GRM4_uc010jvi.1_Missense_Mutation_p.R348Q|GRM4_uc010jvj.1_Missense_Mutation_p.R540Q|GRM4_uc003oio.1_Missense_Mutation_p.R348Q|GRM4_uc003oip.1_Non-coding_Transcript|GRM4_uc003oiq.1_Missense_Mutation_p.R523Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	656	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.589286	191.848161	192.62534	66	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34111898	34111898	7078	6	C	T	T	31	31	GRM4	T	1	1
GRM4	2914	broad.mit.edu	36	6	34208865	34208865	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34208865C>A	uc003oir.2	-	c.387G>T	c.(385-387)AAG>AAT	p.K129N	GRM4_uc010jvh.1_Missense_Mutation_p.K129N|GRM4_uc010jvi.1_De_novo_Start_OutOfFrame|GRM4_uc010jvj.1_Intron|GRM4_uc010jvk.1_Missense_Mutation_p.K48N	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	129	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.27451	32.123477	34.462605	14	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34208865	34208865	7078	6	C	A	A	24	24	GRM4	A	3	3
HMGA1	3159	broad.mit.edu	36	6	34319267	34319267	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34319267A>C	uc003oit.1	+	c.264A>C	c.(262-264)AAA>AAC	p.K88N	HMGA1_uc003oiu.1_Missense_Mutation_p.K88N|HMGA1_uc003oiv.1_Missense_Mutation_p.K77N|HMGA1_uc003oiw.1_Missense_Mutation_p.K77N|HMGA1_uc003oix.1_Missense_Mutation_p.K77N|HMGA1_uc003oiy.1_Missense_Mutation_p.K77N|HMGA1_uc003oiz.1_Missense_Mutation_p.K88N|HMGA1_uc003oja.1_Missense_Mutation_p.K77N|HMGA1_uc010jvl.1_Intron|HMGA1_uc003ojb.1_Missense_Mutation_p.K88N|HMGA1_uc003ojc.1_Missense_Mutation_p.K77N|HMGA1_uc003ojd.1_Missense_Mutation_p.K76N	NM_145899	NP_665911	P17096	HMGA1_HUMAN	high mobility group AT-hook 1 isoform a	88	A.T hook 3.				DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity				0										13				0.257576	48.546973	52.060188	17	49	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34319267	34319267	7514	6	A	C	C	1	1	HMGA1	C	4	4
UHRF1BP1	54887	broad.mit.edu	36	6	34910513	34910513	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34910513G>A	uc003oju.2	+	c.566G>A	c.(565-567)CGA>CAA	p.R189Q	UHRF1BP1_uc010jvm.1_Non-coding_Transcript|UHRF1BP1_uc010jvn.1_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	189										ovary(3)	3														0.231579	97.196235	109.742986	44	146	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34910513	34910513	17526	6	G	A	A	37	37	UHRF1BP1	A	1	1
UHRF1BP1	54887	broad.mit.edu	36	6	34934810	34934810	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34934810G>T	uc003oju.2	+	c.2699G>T	c.(2698-2700)AGC>ATC	p.S900I	UHRF1BP1_uc010jvm.1_Non-coding_Transcript|UHRF1BP1_uc010jvn.1_Non-coding_Transcript|UHRF1BP1_uc010jvo.1_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	900										ovary(3)	3														0.256198	71.562807	78.089447	31	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34934810	34934810	17526	6	G	T	T	34	34	UHRF1BP1	T	3	3
UHRF1BP1	54887	broad.mit.edu	36	6	34939849	34939849	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34939849C>A	uc003oju.2	+	c.3308C>A	c.(3307-3309)TCT>TAT	p.S1103Y	UHRF1BP1_uc010jvm.1_Non-coding_Transcript|UHRF1BP1_uc010jvn.1_Non-coding_Transcript|UHRF1BP1_uc010jvo.1_Intron	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	1103										ovary(3)	3														0.514085	195.033631	195.056877	73	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34939849	34939849	17526	6	C	A	A	32	32	UHRF1BP1	A	3	3
UHRF1BP1	54887	broad.mit.edu	36	6	34939931	34939931	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34939931C>A	uc003oju.2	+	c.3390C>A	c.(3388-3390)AGC>AGA	p.S1130R	UHRF1BP1_uc010jvm.1_Non-coding_Transcript|UHRF1BP1_uc010jvn.1_Non-coding_Transcript|UHRF1BP1_uc010jvo.1_Intron	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	1130										ovary(3)	3														0.275168	93.998615	100.790607	41	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34939931	34939931	17526	6	C	A	A	28	28	UHRF1BP1	A	3	3
TAF11	6882	broad.mit.edu	36	6	34955725	34955725	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34955725C>A	uc003ojw.1	-	c.502G>T	c.(502-504)GAA>TAA	p.E168*	UHRF1BP1_uc010jvm.1_Intron	NM_005643	NP_005634	Q15544	TAF11_HUMAN	TBP-associated factor 11	168					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	general RNA polymerase II transcription factor activity|protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding				0														0.20339	22.462657	27.286869	12	47	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	34955725	34955725	16036	6	C	A	A	32	32	TAF11	A	5	3
ANKS1A	23294	broad.mit.edu	36	6	35093486	35093486	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:35093486A>G	uc003ojx.2	+	c.1682A>G	c.(1681-1683)GAC>GGC	p.D561G	ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	561						cytoplasm	protein binding			ovary(3)	3														0.263158	86.201418	91.983182	30	84	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35093486	35093486	696	6	A	G	G	10	10	ANKS1A	G	4	4
ZNF76	7629	broad.mit.edu	36	6	35370898	35370898	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:35370898G>A	uc003oki.1	+	c.1609_splice	c.e14-1	p.L537_splice	DEF6_uc003okk.1_5'Flank|DEF6_uc010jvs.1_5'Flank|DEF6_uc010jvt.1_5'Flank|ZNF76_uc003okj.1_Splice_Site_SNP_p.L482_splice	NM_003427	NP_003418			zinc finger protein 76 (expressed in testis)						regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						Esophageal Squamous(52;92 1039 20612 23956 34676)								0.166667	13.099186	17.52402	7	35	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	35370898	35370898	18733	6	G	A	A	34	34	ZNF76	A	5	2
TEAD3	7005	broad.mit.edu	36	6	35551843	35551843	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:35551843C>T	uc003oku.2	-	c.731G>A	c.(730-732)AGC>AAC	p.S244N	TEAD3_uc003okt.1_Missense_Mutation_p.S133N|TEAD3_uc010jvx.1_Missense_Mutation_p.S184N	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	244	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.363636	23.193658	23.553737	8	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35551843	35551843	16267	6	C	T	T	28	28	TEAD3	T	2	2
TEAD3	7005	broad.mit.edu	36	6	35562320	35562320	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:35562320C>T	uc003oku.2	-	c.98G>A	c.(97-99)GGC>GAC	p.G33D	TEAD3_uc010jvx.1_Missense_Mutation_p.A16T	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	33	TEA.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.33871	51.532828	52.970155	21	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35562320	35562320	16267	6	C	T	T	26	26	TEAD3	T	2	2
C6orf81	221481	broad.mit.edu	36	6	35823016	35823016	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:35823016G>A	uc003ola.1	+	c.526G>A	c.(526-528)GAA>AAA	p.E176K	C6orf81_uc003olb.1_Missense_Mutation_p.E149K	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	149							binding			ovary(1)	1														0.330709	113.925515	117.141788	42	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35823016	35823016	2478	6	G	A	A	41	41	C6orf81	A	2	2
LHFPL5	222662	broad.mit.edu	36	6	35881501	35881501	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:35881501G>A	uc003olg.1	+	c.76G>A	c.(76-78)GGC>AGC	p.G26S		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	26	Helical; (Potential).					integral to membrane					0														0.552511	365.078095	365.603491	121	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35881501	35881501	9094	6	G	A	A	43	43	LHFPL5	A	2	2
SRPK1	6732	broad.mit.edu	36	6	35946198	35946198	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:35946198G>A	uc003olj.1	-	c.829C>T	c.(829-831)CGC>TGC	p.R277C	SRPK1_uc003olh.1_Missense_Mutation_p.R170C|SRPK1_uc003oli.1_Missense_Mutation_p.R170C	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	SFRS protein kinase 1	277	Protein kinase.				cell differentiation|chromosome segregation|innate immune response|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|protein phosphorylation|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						NSCLC(31;67 978 16289 24856 26454)				211				0.333333	7.221079	7.442945	3	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35946198	35946198	15673	6	G	A	A	38	38	SRPK1	A	1	1
MAPK14	1432	broad.mit.edu	36	6	36103958	36103958	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:36103958A>G	uc003olp.1	+	c.46A>G	c.(46-48)ACA>GCA	p.T16A	MAPK14_uc003olo.1_Missense_Mutation_p.T16A|MAPK14_uc003olq.1_Missense_Mutation_p.T16A|MAPK14_uc003olr.1_Missense_Mutation_p.T16A	NM_001315	NP_001306	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14 isoform 1	16					activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|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|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase kinase activity|protein binding			ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)				185				0.25	66.943814	72.613646	25	75	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36103958	36103958	9659	6	A	G	G	10	10	MAPK14	G	4	4
MAPK13	5603	broad.mit.edu	36	6	36212653	36212653	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:36212653C>T	uc003ols.1	+	c.630C>T	c.(628-630)GGC>GGT	p.G210G	MAPK13_uc003olt.1_Intron	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	210	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3										208				0.22549	50.062722	57.132437	23	79	CC		KEEP	---	---	---	---	capture			Silent	SNP	36212653	36212653	9658	6	C	T	T	28	28	MAPK13	T	2	2
BRPF3	27154	broad.mit.edu	36	6	36276586	36276586	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:36276586A>C	uc003olv.2	+	c.509A>C	c.(508-510)AAA>ACA	p.K170T	BRPF3_uc010jwb.1_Missense_Mutation_p.K170T|BRPF3_uc010jwc.1_Non-coding_Transcript	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	170					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)	1														0.288462	88.913072	93.08206	30	74	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36276586	36276586	1552	6	A	C	C	1	1	BRPF3	C	4	4
ETV7	51513	broad.mit.edu	36	6	36447160	36447160	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:36447160C>A	uc003omb.1	-	c.589G>T	c.(589-591)GAG>TAG	p.E197*	ETV7_uc003olz.1_Nonsense_Mutation_p.E197*|ETV7_uc003oma.1_Nonsense_Mutation_p.E142*|ETV7_uc010jwg.1_Non-coding_Transcript|ETV7_uc010jwh.1_Nonsense_Mutation_p.E116*|ETV7_uc010jwi.1_Intron|ETV7_uc010jwj.1_Nonsense_Mutation_p.E138*|ETV7_uc003omc.1_Nonsense_Mutation_p.E142*	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	197					organ morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity			ovary(1)|skin(1)	2														0.25	16.38112	18.202529	8	24	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	36447160	36447160	5477	6	C	A	A	32	32	ETV7	A	5	3
KCTD20	222658	broad.mit.edu	36	6	36562797	36562797	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:36562797C>T	uc003ome.1	+	c.1127C>T	c.(1126-1128)ACG>ATG	p.T376M	KCTD20_uc010jwk.1_Missense_Mutation_p.T210M	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	376						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2														0.321321	266.336179	275.764963	107	226	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36562797	36562797	8414	6	C	T	T	19	19	KCTD20	T	1	1
CPNE5	57699	broad.mit.edu	36	6	36875781	36875781	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:36875781G>A	uc003omr.1	-	c.228C>T	c.(226-228)TTC>TTT	p.F76F	CPNE5_uc003oms.1_Silent_p.F38F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	76	C2 1.									skin(1)	1										537				0.6	80.83237	81.226728	27	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	36875781	36875781	3953	6	G	A	A	37	37	CPNE5	A	1	1
PI16	221476	broad.mit.edu	36	6	37039026	37039026	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:37039026G>A	uc003ona.1	+	c.930G>A	c.(928-930)TCG>TCA	p.S310S	PI16_uc003omz.1_Intron|PI16_uc003onb.1_Intron	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	310	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0														0.305785	94.542655	98.606263	37	84	GG		KEEP	---	---	---	---	capture			Silent	SNP	37039026	37039026	12293	6	G	A	A	37	37	PI16	A	1	1
TMEM217	221468	broad.mit.edu	36	6	37294741	37294741	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:37294741G>A	uc003onl.1	-	c.44C>T	c.(43-45)ACC>ATC	p.T15I	TMEM217_uc010jwr.1_Missense_Mutation_p.T15I|TMEM217_uc010jws.1_Intron|TMEM217_uc003onm.2_Missense_Mutation_p.T15I	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	transmembrane protein 217	15	Helical; (Potential).					integral to membrane					0														0.310811	172.078851	179.164601	69	153	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37294741	37294741	16676	6	G	A	A	44	44	TMEM217	A	2	2
FTSJD2	23070	broad.mit.edu	36	6	37551138	37551138	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:37551138G>A	uc003ons.1	+	c.2008G>A	c.(2008-2010)GAC>AAC	p.D670N		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	670					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.606557	109.578638	110.183525	37	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37551138	37551138	6342	6	G	A	A	37	37	FTSJD2	A	1	1
DNAH8	1769	broad.mit.edu	36	6	38898772	38898772	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:38898772G>A	uc003ooe.1	+	c.3053G>A	c.(3052-3054)CGC>CAC	p.R1018H		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	1018					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17									p.R1018H(IGROV1-Tumor)	2979				0.28	66.158154	70.510103	28	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38898772	38898772	4790	6	G	A	A	38	38	DNAH8	A	1	1
DNAH8	1769	broad.mit.edu	36	6	38928987	38928987	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:38928987G>T	uc003ooe.1	+	c.4968G>T	c.(4966-4968)CTG>CTT	p.L1656L		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	1656					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.245098	57.119891	63.160678	25	77	GG		KEEP	---	---	---	---	capture			Silent	SNP	38928987	38928987	4790	6	G	T	T	47	47	DNAH8	T	3	3
DNAH8	1769	broad.mit.edu	36	6	38938106	38938106	+	Silent	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:38938106C>G	uc003ooe.1	+	c.5553C>G	c.(5551-5553)GGC>GGG	p.G1851G		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	1851	AAA 1 (By similarity).|ATP (Potential).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.284974	159.563974	167.566665	55	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	38938106	38938106	4790	6	C	G	G	25	25	DNAH8	G	3	3
DNAH8	1769	broad.mit.edu	36	6	38948493	38948493	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:38948493G>A	uc003ooe.1	+	c.6543G>A	c.(6541-6543)GGG>GGA	p.G2181G		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	2181	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(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.305344	99.739977	104.174438	40	91	GG		KEEP	---	---	---	---	capture			Silent	SNP	38948493	38948493	4790	6	G	A	A	41	41	DNAH8	A	2	2
DNAH8	1769	broad.mit.edu	36	6	38997176	38997176	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:38997176G>A	uc003ooe.1	+	c.9927G>A	c.(9925-9927)GGG>GGA	p.G3309G		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	3309	Stalk (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.292308	47.206365	49.713147	19	46	GG		KEEP	---	---	---	---	capture			Silent	SNP	38997176	38997176	4790	6	G	A	A	41	41	DNAH8	A	2	2
KCNK5	8645	broad.mit.edu	36	6	39267369	39267369	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:39267369G>A	uc003oon.1	-	c.775C>T	c.(775-777)CGG>TGG	p.R259W		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	259	Cytoplasmic (Potential).				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)	1														0.259109	139.683416	152.673262	64	183	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39267369	39267369	8374	6	G	A	A	38	38	KCNK5	A	1	1
KCNK5	8645	broad.mit.edu	36	6	39270464	39270464	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:39270464A>C	uc003oon.1	-	c.349T>G	c.(349-351)TTC>GTC	p.F117V		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	117	Helical; (Potential).				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)	1														0.278302	164.984298	174.39921	59	153	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39270464	39270464	8374	6	A	C	C	1	1	KCNK5	C	4	4
KCNK17	89822	broad.mit.edu	36	6	39380366	39380366	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:39380366G>A	uc003ooo.1	-	c.396C>T	c.(394-396)TTC>TTT	p.F132F	KCNK17_uc003oop.1_Silent_p.F132F	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	132	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1														0.246528	171.513385	188.339077	71	217	GG		KEEP	---	---	---	---	capture			Silent	SNP	39380366	39380366	8369	6	G	A	A	33	33	KCNK17	A	2	2
KCNK16	83795	broad.mit.edu	36	6	39394874	39394874	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:39394874G>A	uc003ooq.1	-	c.227C>T	c.(226-228)GCC>GTC	p.A76V	KCNK16_uc010jwy.1_Missense_Mutation_p.A76V|KCNK16_uc003oor.2_Missense_Mutation_p.A76V	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	76						integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)	2														0.277108	52.679136	56.397898	23	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39394874	39394874	8368	6	G	A	A	42	42	KCNK16	A	2	2
KIF6	221458	broad.mit.edu	36	6	39660736	39660736	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:39660736C>T	uc003oot.2	-	c.993G>A	c.(991-993)GAG>GAA	p.E331E	KIF6_uc010jxa.1_Silent_p.E122E|KIF6_uc010jxb.1_Silent_p.E331E	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	331					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3														0.276316	167.831579	178.098159	63	165	CC		KEEP	---	---	---	---	capture			Silent	SNP	39660736	39660736	8619	6	C	T	T	20	20	KIF6	T	2	2
MOCS1	4337	broad.mit.edu	36	6	39984810	39984810	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:39984810G>A	uc003opb.2	-	c.1149C>T	c.(1147-1149)ATC>ATT	p.I383I	MOCS1_uc003opa.2_Silent_p.I383I|MOCS1_uc003opc.2_Intron|MOCS1_uc003opd.2_Silent_p.I383I|MOCS1_uc003ope.2_Intron	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	383	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)								0.260274	44.095509	47.892056	19	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	39984810	39984810	10081	6	G	A	A	37	37	MOCS1	A	1	1
C6orf146	222826	broad.mit.edu	36	6	4014443	4014443	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:4014443G>T	uc003mvx.1	-	c.1013C>A	c.(1012-1014)TCT>TAT	p.S338Y	C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.1_Missense_Mutation_p.S275Y	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	hypothetical protein LOC222826	338										ovary(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)												0.601307	262.398676	263.766136	92	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4014443	4014443	2439	6	G	T	T	33	33	C6orf146	T	3	3
C6orf146	222826	broad.mit.edu	36	6	4022627	4022627	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:4022627G>A	uc003mvx.1	-	c.21C>T	c.(19-21)AAC>AAT	p.N7N	C6orf201_uc003mwa.2_5'Flank|C6orf201_uc003mvz.2_5'Flank|C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.1_Intron	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	hypothetical protein LOC222826	7										ovary(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)												0.286853	184.686934	194.923531	72	179	GG		KEEP	---	---	---	---	capture			Silent	SNP	4022627	4022627	2439	6	G	A	A	36	36	C6orf146	A	2	2
C6orf201	404220	broad.mit.edu	36	6	4032922	4032922	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:4032922G>A	uc003mwa.2	+	c.48G>A	c.(46-48)ACG>ACA	p.T16T	C6orf201_uc003mvz.2_Intron|C6orf201_uc003mwb.2_Non-coding_Transcript|C6orf146_uc010jnq.1_5'Flank|C6orf146_uc003mvy.1_5'Flank	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	hypothetical protein LOC404220	16											0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)												0.272523	273.941529	294.68297	121	323	GG		KEEP	---	---	---	---	capture			Silent	SNP	4032922	4032922	2456	6	G	A	A	38	38	C6orf201	A	1	1
C6orf201	404220	broad.mit.edu	36	6	4044315	4044315	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:4044315G>A	uc003mwa.2	+	c.168G>A	c.(166-168)CCG>CCA	p.P56P	C6orf201_uc003mvz.2_Non-coding_Transcript|C6orf201_uc003mwb.2_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	hypothetical protein LOC404220	56											0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)												0.276423	82.204205	87.735081	34	89	GG		KEEP	---	---	---	---	capture			Silent	SNP	4044315	4044315	2456	6	G	A	A	37	37	C6orf201	A	1	1
LRFN2	57497	broad.mit.edu	36	6	40467832	40467832	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:40467832G>A	uc003oph.1	-	c.2198C>T	c.(2197-2199)GCG>GTG	p.A733V		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	733	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.660377	96.321153	97.522123	35	18	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40467832	40467832	9311	6	G	A	A	38	38	LRFN2	A	1	1
TREML2	79865	broad.mit.edu	36	6	41268177	41268177	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41268177C>T	uc010jxm.1	-	c.1109G>A	c.(1108-1110)AGA>AAA	p.R370K		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	311	Cytoplasmic (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)													0.25	24.329718	26.603151	10	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41268177	41268177	17017	6	C	T	T	32	32	TREML2	T	2	2
TREML4	285852	broad.mit.edu	36	6	41304194	41304194	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41304194C>A	uc003oqc.1	+	c.51C>A	c.(49-51)TGC>TGA	p.C17*	TREML4_uc003oqd.1_5'Flank	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid	17	Cys-rich.					extracellular region				breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)													0.787879	78.654241	81.176495	26	7	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	41304194	41304194	17018	6	C	A	A	28	28	TREML4	A	5	3
TREM1	54210	broad.mit.edu	36	6	41358385	41358385	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41358385C>T	uc003oqf.1	-	c.132G>A	c.(130-132)ACG>ACA	p.T44T	TREM1_uc003oqg.1_Silent_p.T44T	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells	44	Extracellular (Potential).|Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)									0.541219	429.206792	429.616905	151	128	CC		KEEP	---	---	---	---	capture			Silent	SNP	41358385	41358385	17014	6	C	T	T	27	27	TREM1	T	1	1
NCR2	9436	broad.mit.edu	36	6	41417638	41417638	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41417638C>T	uc003oqh.2	+	c.523C>T	c.(523-525)CCT>TCT	p.P175S	NCR2_uc003oqi.2_Missense_Mutation_p.P175S|NCR2_uc003oqj.2_Missense_Mutation_p.P175S	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	175	Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)													0.354545	108.586412	110.640468	39	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41417638	41417638	10637	6	C	T	T	22	22	NCR2	T	2	2
PGC	5225	broad.mit.edu	36	6	41816315	41816315	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41816315G>A	uc003ora.1	-	c.659C>T	c.(658-660)TCC>TTC	p.S220F		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	220					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)													0.301724	173.150152	181.301578	70	162	GG		KEEP	---	---	---	---	capture	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		Missense_Mutation	SNP	41816315	41816315	12208	6	G	A	A	41	41	PGC	A	2	2
FRS3	10817	broad.mit.edu	36	6	41851266	41851266	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41851266G>A	uc003orc.1	-	c.122C>T	c.(121-123)ACG>ATG	p.T41M		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	41	IRS-type PTB.				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)													0.275	49.819848	53.466467	22	58	GG		KEEP	---	---	---	---	capture	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		Missense_Mutation	SNP	41851266	41851266	6312	6	G	A	A	40	40	FRS3	A	1	1
BYSL	705	broad.mit.edu	36	6	42003171	42003171	+	Missense_Mutation	SNP	C	T	T	rs36124188	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42003171C>T	uc003orl.1	+	c.350C>T	c.(349-351)GCG>GTG	p.A117V	BYSL_uc010jxs.1_5'Flank	NM_004053	NP_004044	Q13895	BYST_HUMAN	bystin	117					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus					0	Colorectal(47;0.121)													0.313253	126.832101	131.989419	52	114	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		Missense_Mutation	SNP	42003171	42003171	1610	6	C	T	T	27	27	BYSL	T	1	1
TAF8	129685	broad.mit.edu	36	6	42144229	42144229	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42144229C>T	uc003orv.1	+	c.686C>T	c.(685-687)CCG>CTG	p.P229L	TAF8_uc003ors.1_Missense_Mutation_p.P229L|TAF8_uc003ort.1_Missense_Mutation_p.P229L|TAF8_uc003oru.1_Missense_Mutation_p.P229L	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	229					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding|transcription activator activity			ovary(1)	1	Colorectal(47;0.196)													0.310277	407.696654	423.917207	157	349	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		Missense_Mutation	SNP	42144229	42144229	16055	6	C	T	T	23	23	TAF8	T	1	1
GUCA1B	2979	broad.mit.edu	36	6	42260551	42260551	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42260551G>A	uc003orz.1	-	c.583C>T	c.(583-585)CGG>TGG	p.R195W		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	195					body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			skin(1)	1	Colorectal(47;0.196)													0.58042	230.429926	231.239684	83	60	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)		Missense_Mutation	SNP	42260551	42260551	7169	6	G	A	A	40	40	GUCA1B	A	1	1
UBR2	23304	broad.mit.edu	36	6	42726060	42726060	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42726060C>T	uc003osg.1	+	c.2523C>T	c.(2521-2523)TTC>TTT	p.F841F	UBR2_uc003osh.1_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	841						nucleus|plasma membrane	zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)													0.281553	69.925098	74.34633	29	74	CC		KEEP	---	---	---	---	capture	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)		Silent	SNP	42726060	42726060	17460	6	C	T	T	29	29	UBR2	T	2	2
UBR2	23304	broad.mit.edu	36	6	42731387	42731387	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42731387G>T	uc003osg.1	+	c.2820G>T	c.(2818-2820)GAG>GAT	p.E940D	UBR2_uc003osh.1_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	940						nucleus|plasma membrane	zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)													0.294118	108.50084	114.313717	45	108	GG		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	42731387	42731387	17460	6	G	T	T	33	33	UBR2	T	3	3
PRPH2	5961	broad.mit.edu	36	6	42797568	42797568	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42797568G>A	uc003osk.1	-	c.483C>T	c.(481-483)ATC>ATT	p.I161I		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	161	Lumenal (Potential).				cell adhesion|response to stimulus|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)													0.597222	385.494382	387.276139	129	87	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		Silent	SNP	42797568	42797568	13020	6	G	A	A	37	37	PRPH2	A	1	1
KIAA0240	23506	broad.mit.edu	36	6	42898559	42898559	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42898559C>A	uc003osn.1	+	c.89C>A	c.(88-90)TCT>TAT	p.S30Y	KIAA0240_uc003osm.1_Missense_Mutation_p.S30Y|KIAA0240_uc003oso.1_Missense_Mutation_p.S30Y|KIAA0240_uc003osp.1_Missense_Mutation_p.S30Y	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	30										ovary(1)	1	Colorectal(47;0.196)													0.330882	112.517533	115.970233	45	91	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	42898559	42898559	8471	6	C	A	A	32	32	KIAA0240	A	3	3
KIAA0240	23506	broad.mit.edu	36	6	42932869	42932869	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42932869G>A	uc003osn.1	+	c.2171G>A	c.(2170-2172)CGA>CAA	p.R724Q	KIAA0240_uc003osp.1_Missense_Mutation_p.R724Q	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	724										ovary(1)	1	Colorectal(47;0.196)													0.608491	385.301749	387.486166	129	83	GG		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	42932869	42932869	8471	6	G	A	A	37	37	KIAA0240	A	1	1
PEX6	5190	broad.mit.edu	36	6	43044190	43044190	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43044190C>A	uc003otf.1	-	c.1504G>T	c.(1504-1506)GAA>TAA	p.E502*	PEX6_uc010jya.1_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	502					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1														0.2	9.558762	11.653596	5	20	CC		KEEP	---	---	---	---	capture	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		Nonsense_Mutation	SNP	43044190	43044190	12172	6	C	A	A	32	32	PEX6	A	5	3
PPP2R5D	5528	broad.mit.edu	36	6	43083719	43083719	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43083719C>A	uc003oth.1	+	c.795C>A	c.(793-795)ATC>ATA	p.I265I	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.1_Silent_p.I233I|PPP2R5D_uc010jyd.1_Silent_p.I159I|PPP2R5D_uc003oti.1_Silent_p.I114I|PPP2R5D_uc003otj.1_Silent_p.I114I	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	265					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(1)	1						Melanoma(63;587 1613 29742 31770)								0.311284	186.663534	194.839518	80	177	CC		KEEP	---	---	---	---	capture	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		Silent	SNP	43083719	43083719	12831	6	C	A	A	32	32	PPP2R5D	A	3	3
KLC4	89953	broad.mit.edu	36	6	43137172	43137172	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43137172C>A	uc003otw.1	+	c.175C>A	c.(175-177)CAG>AAG	p.Q59K	KLC4_uc003otr.1_Non-coding_Transcript|MRPL2_uc003ots.1_5'Flank|MRPL2_uc010jyi.1_5'Flank|MRPL2_uc003ott.2_5'Flank|KLC4_uc003otu.1_Missense_Mutation_p.Q41K|KLC4_uc003otv.1_Missense_Mutation_p.Q41K|KLC4_uc003otx.1_Missense_Mutation_p.Q41K|KLC4_uc003oty.1_Missense_Mutation_p.Q41K|KLC4_uc003otz.1_Missense_Mutation_p.Q41K	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform b	41	Potential.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			ovary(1)|skin(1)	2														0.253521	41.013233	44.931547	18	53	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	43137172	43137172	8648	6	C	A	A	21	21	KLC4	A	3	3
CUL9	23113	broad.mit.edu	36	6	43260396	43260396	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43260396C>T	uc003ouk.1	+	c.370C>T	c.(370-372)CGC>TGC	p.R124C	CUL9_uc003ouj.1_Missense_Mutation_p.R124C|CUL9_uc003oul.1_Missense_Mutation_p.R124C|CUL9_uc010jyk.1_De_novo_Start_OutOfFrame|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	124					regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process	anaphase-promoting complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|central_nervous_system(1)	6														0.583732	342.582138	343.875267	122	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43260396	43260396	4221	6	C	T	T	19	19	CUL9	T	1	1
CUL9	23113	broad.mit.edu	36	6	43276173	43276173	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43276173G>T	uc003ouk.1	+	c.3406G>T	c.(3406-3408)GAC>TAC	p.D1136Y	CUL9_uc003oul.1_Missense_Mutation_p.D1136Y|CUL9_uc010jyk.1_Missense_Mutation_p.D288Y	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1136					regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process	anaphase-promoting complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|central_nervous_system(1)	6														0.221557	70.845009	82.810236	37	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43276173	43276173	4221	6	G	T	T	33	33	CUL9	T	3	3
CUL9	23113	broad.mit.edu	36	6	43276423	43276423	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43276423G>A	uc003ouk.1	+	c.3520G>A	c.(3520-3522)GAG>AAG	p.E1174K	CUL9_uc003oul.1_Missense_Mutation_p.E1174K|CUL9_uc010jyk.1_Missense_Mutation_p.E326K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1174	DOC.				regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process	anaphase-promoting complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|central_nervous_system(1)	6														0.338843	108.220279	111.007308	41	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43276423	43276423	4221	6	G	A	A	41	41	CUL9	A	2	2
ZNF318	24149	broad.mit.edu	36	6	43415047	43415047	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43415047C>T	uc003oux.1	-	c.4667G>A	c.(4666-4668)CGA>CAA	p.R1556Q	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1556					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(2)|breast(2)|central_nervous_system(1)	5														0.27027	69.269148	74.512458	30	81	CC		KEEP	---	---	---	---	capture	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		Missense_Mutation	SNP	43415047	43415047	18428	6	C	T	T	31	31	ZNF318	T	1	1
DLK2	65989	broad.mit.edu	36	6	43527684	43527684	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43527684G>A	uc003ova.1	-	c.388C>T	c.(388-390)CGC>TGC	p.R130C	DLK2_uc003ovb.1_Missense_Mutation_p.R130C	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9	130	Extracellular (Potential).					integral to membrane	calcium ion binding				0	all_lung(25;0.00536)													0.347222	63.750634	65.235224	25	47	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Missense_Mutation	SNP	43527684	43527684	4745	6	G	A	A	38	38	DLK2	A	1	1
POLR1C	9533	broad.mit.edu	36	6	43595115	43595115	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43595115G>A	uc003ovn.1	+	c.208G>A	c.(208-210)GCA>ACA	p.A70T	YIPF3_uc003ovl.1_5'Flank|YIPF3_uc003ovm.1_5'Flank|YIPF3_uc010jyr.1_5'Flank|YIPF3_uc010jys.1_5'Flank|YIPF3_uc010jyt.1_5'Flank|POLR1C_uc003ovo.1_Missense_Mutation_p.A70T	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	70					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)									14				0.172414	23.497156	32.304478	15	72	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		Missense_Mutation	SNP	43595115	43595115	12639	6	G	A	A	38	38	POLR1C	A	1	1
POLH	5429	broad.mit.edu	36	6	43689779	43689779	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43689779C>A	uc003ovq.2	+	c.1649C>A	c.(1648-1650)TCT>TAT	p.S550Y	POLH_uc010jyu.1_Missense_Mutation_p.S426Y|POLH_uc003ovr.2_Missense_Mutation_p.S451Y	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	550					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)													0.295154	157.92483	166.45489	67	160	CC		KEEP	---	---	---	---	capture	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		Missense_Mutation	SNP	43689779	43689779	12630	6	C	A	A	32	32	POLH	A	3	3
MAD2L1BP	9587	broad.mit.edu	36	6	43715869	43715869	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43715869G>A	uc003ovu.1	+	c.542G>A	c.(541-543)CGA>CAA	p.R181Q	MAD2L1BP_uc003ovv.1_Missense_Mutation_p.R149Q	NM_001003690	NP_001003690	Q15013	MD2BP_HUMAN	MAD2L1 binding protein isoform 1	149					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding				0	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)													0.541667	154.10116	154.245734	52	44	GG		KEEP	---	---	---	---	capture	all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		Missense_Mutation	SNP	43715869	43715869	9526	6	G	A	A	37	37	MAD2L1BP	A	1	1
CAPN11	11131	broad.mit.edu	36	6	44252689	44252689	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44252689G>A	uc003owt.1	+	c.1102G>A	c.(1102-1104)GCA>ACA	p.A368T		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	405	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)													0.261628	93.761543	102.640714	45	127	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Missense_Mutation	SNP	44252689	44252689	2741	6	G	A	A	38	38	CAPN11	A	1	1
SLC29A1	2030	broad.mit.edu	36	6	44307093	44307093	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44307093G>A	uc003oww.1	+	c.1018G>A	c.(1018-1020)GCA>ACA	p.A340T	SLC29A1_uc003owu.1_Missense_Mutation_p.A261T|SLC29A1_uc003owv.1_Missense_Mutation_p.A261T|SLC29A1_uc003owx.1_Missense_Mutation_p.A261T|SLC29A1_uc003owy.1_Missense_Mutation_p.A261T|SLC29A1_uc003owz.1_Missense_Mutation_p.A261T	NM_004955	NP_004946	Q99808	S29A1_HUMAN	equilibrative nucleoside transporter 1	261	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)				Troglitazone(DB00197)					184				0.22449	26.997576	30.416597	11	38	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Missense_Mutation	SNP	44307093	44307093	15031	6	G	A	A	34	34	SLC29A1	A	2	2
TCTE1	202500	broad.mit.edu	36	6	44358184	44358184	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44358184C>T	uc003oxi.1	-	c.937G>A	c.(937-939)GAC>AAC	p.D313N	SPATS1_uc003oxg.1_Intron|TMEM151B_uc003oxf.1_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	313	LRR 1.									ovary(2)	2	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)													0.261261	69.521881	75.249883	29	82	CC		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Missense_Mutation	SNP	44358184	44358184	16243	6	C	T	T	30	30	TCTE1	T	2	2
AARS2	57505	broad.mit.edu	36	6	44380030	44380030	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44380030G>A	uc010jza.1	-	c.1873C>T	c.(1873-1875)CGT>TGT	p.R625C	SPATS1_uc003oxg.1_Intron|TMEM151B_uc003oxf.1_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	625					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)				L-Alanine(DB00160)							OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.290076	85.901674	91.074238	38	93	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Missense_Mutation	SNP	44380030	44380030	21	6	G	A	A	38	38	AARS2	A	1	1
AARS2	57505	broad.mit.edu	36	6	44383065	44383065	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44383065G>A	uc010jza.1	-	c.939C>T	c.(937-939)GAC>GAT	p.D313D	SPATS1_uc003oxg.1_Non-coding_Transcript|TMEM151B_uc003oxf.1_3'UTR	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	313					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)				L-Alanine(DB00160)									0.185185	9.158698	11.668652	5	22	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Silent	SNP	44383065	44383065	21	6	G	A	A	40	40	AARS2	A	1	1
AARS2	57505	broad.mit.edu	36	6	44387179	44387179	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44387179G>T	uc010jza.1	-	c.507C>A	c.(505-507)ATC>ATA	p.I169I	SPATS1_uc003oxg.1_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	169					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)				L-Alanine(DB00160)									0.221311	52.841898	61.583207	27	95	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Silent	SNP	44387179	44387179	21	6	G	T	T	33	33	AARS2	T	3	3
SPATS1	221409	broad.mit.edu	36	6	44444216	44444216	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44444216T>C	uc003oxk.1	+	c.695_splice	c.e5+2	p.I232_splice	SPATS1_uc003oxg.1_Splice_Site_SNP|SPATS1_uc010jzb.1_Splice_Site_SNP_p.I117_splice	NM_145026	NP_659463			spermatogenesis associated, serine-rich 1												0	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)													0.535433	243.720305	243.860361	68	59	TT		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Splice_Site_SNP	SNP	44444216	44444216	15528	6	T	C	C	57	57	SPATS1	C	5	4
CDC5L	988	broad.mit.edu	36	6	44500291	44500291	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44500291G>A	uc003oxl.1	+	c.1562G>A	c.(1561-1563)CGA>CAA	p.R521Q		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	521	Interaction with PPP1R8.|Interaction with DAPK3 (By similarity).				cell cycle|nuclear mRNA splicing, via spliceosome|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)	5	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)									515				0.411765	75.880195	76.344124	28	40	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Missense_Mutation	SNP	44500291	44500291	3211	6	G	A	A	37	37	CDC5L	A	1	1
CDC5L	988	broad.mit.edu	36	6	44521414	44521414	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44521414G>T	uc003oxl.1	+	c.2136G>T	c.(2134-2136)AAG>AAT	p.K712N		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	712	Interaction with PLRG1.				cell cycle|nuclear mRNA splicing, via spliceosome|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)	5	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)									515				0.373494	79.69409	80.864181	31	52	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Missense_Mutation	SNP	44521414	44521414	3211	6	G	T	T	33	33	CDC5L	T	3	3
RUNX2	860	broad.mit.edu	36	6	45588105	45588105	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:45588105T>C	uc003oxq.1	+	c.1208T>C	c.(1207-1209)GTG>GCG	p.V403A	RUNX2_uc003oxr.1_Missense_Mutation_p.V403A|RUNX2_uc003oxt.1_Missense_Mutation_p.V321A	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	335	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation	nucleus	ATP binding|DNA binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(2)	2										190				0.318471	131.70533	136.298025	50	107	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45588105	45588105	14228	6	T	C	C	59	59	RUNX2	C	4	4
TDRD6	221400	broad.mit.edu	36	6	46765296	46765296	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46765296C>T	uc003oyj.1	+	c.1472C>T	c.(1471-1473)GCG>GTG	p.A491V	TDRD6_uc010jze.1_Missense_Mutation_p.A485V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	491					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)	5														0.284974	132.040133	140.05399	55	138	CC		KEEP	---	---	---	---	capture	Lung(136;0.192)		Missense_Mutation	SNP	46765296	46765296	16261	6	C	T	T	27	27	TDRD6	T	1	1
TDRD6	221400	broad.mit.edu	36	6	46769338	46769338	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46769338G>A	uc003oyj.1	+	c.5514G>A	c.(5512-5514)CCG>CCA	p.P1838P	TDRD6_uc010jze.1_Silent_p.P1832P	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1838					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)	5														0.282723	126.271685	134.372262	54	137	GG		KEEP	---	---	---	---	capture	Lung(136;0.192)		Silent	SNP	46769338	46769338	16261	6	G	A	A	38	38	TDRD6	A	1	1
TDRD6	221400	broad.mit.edu	36	6	46771636	46771636	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46771636A>G	uc003oyj.1	+	c.6166A>G	c.(6166-6168)ACA>GCA	p.T2056A	TDRD6_uc010jze.1_Missense_Mutation_p.T2050A	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	2056	Tudor 8.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)	5														0.588571	363.663553	364.865117	103	72	AA		KEEP	---	---	---	---	capture	Lung(136;0.192)		Missense_Mutation	SNP	46771636	46771636	16261	6	A	G	G	2	2	TDRD6	G	4	4
GPR116	221395	broad.mit.edu	36	6	46934171	46934171	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46934171G>A	uc003oyo.2	-	c.3428C>T	c.(3427-3429)TCG>TTG	p.S1143L	GPR116_uc003oyp.2_Missense_Mutation_p.S1001L|GPR116_uc003oyq.2_Missense_Mutation_p.S1143L|GPR116_uc010jzi.1_Missense_Mutation_p.S815L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116	1143	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						NSCLC(59;410 1274 8751 36715 50546)								0.56	78.199821	78.356582	28	22	GG		KEEP	---	---	---	---	capture	Lung(136;0.192)		Missense_Mutation	SNP	46934171	46934171	6907	6	G	A	A	37	37	GPR116	A	1	1
GPR116	221395	broad.mit.edu	36	6	46934426	46934426	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46934426G>A	uc003oyo.2	-	c.3173C>T	c.(3172-3174)GCT>GTT	p.A1058V	GPR116_uc003oyp.2_Missense_Mutation_p.A916V|GPR116_uc003oyq.2_Missense_Mutation_p.A1058V|GPR116_uc010jzi.1_Missense_Mutation_p.A730V	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116	1058	Helical; Name=2; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						NSCLC(59;410 1274 8751 36715 50546)								0.632911	155.971086	157.202642	50	29	GG		KEEP	---	---	---	---	capture	Lung(136;0.192)		Missense_Mutation	SNP	46934426	46934426	6907	6	G	A	A	34	34	GPR116	A	2	2
GPR116	221395	broad.mit.edu	36	6	46957743	46957743	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46957743A>G	uc003oyo.2	-	c.671_splice	c.e7+1	p.K224_splice	GPR116_uc003oyp.2_Splice_Site_SNP_p.K224_splice|GPR116_uc003oyq.2_Splice_Site_SNP_p.K224_splice|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Splice_Site_SNP_p.K224_splice	NM_001098518	NP_056049			G-protein coupled receptor 116						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						NSCLC(59;410 1274 8751 36715 50546)								0.296875	344.070722	358.264496	114	270	AA		KEEP	---	---	---	---	capture	Lung(136;0.192)		Splice_Site_SNP	SNP	46957743	46957743	6907	6	A	G	G	14	14	GPR116	G	5	4
GPR116	221395	broad.mit.edu	36	6	46959348	46959348	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46959348G>A	uc003oyo.2	-	c.519C>T	c.(517-519)AAC>AAT	p.N173N	GPR116_uc003oyp.2_Silent_p.N173N|GPR116_uc003oyq.2_Silent_p.N173N|GPR116_uc003oyr.2_Silent_p.N173N	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116	173	SEA.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						NSCLC(59;410 1274 8751 36715 50546)								0.428571	65.28696	65.536879	24	32	GG		KEEP	---	---	---	---	capture	Lung(136;0.192)		Silent	SNP	46959348	46959348	6907	6	G	A	A	48	48	GPR116	A	2	2
TNFRSF21	27242	broad.mit.edu	36	6	47359913	47359913	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:47359913G>A	uc003oyv.1	-	c.963C>T	c.(961-963)GGC>GGT	p.G321G		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	321	Extracellular (Potential).				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0														0.55873	485.414632	486.367189	176	139	GG		KEEP	---	---	---	---	capture	Lung(136;0.189)		Silent	SNP	47359913	47359913	16836	6	G	A	A	38	38	TNFRSF21	A	1	1
GPR111	222611	broad.mit.edu	36	6	47754792	47754792	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:47754792A>G	uc010jzj.1	+	c.434A>G	c.(433-435)GAC>GGC	p.D145G	GPR111_uc010jzk.1_Missense_Mutation_p.D77G|GPR111_uc003oyy.1_Non-coding_Transcript	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	145	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1														0.172414	54.997216	69.687409	25	120	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47754792	47754792	6902	6	A	G	G	10	10	GPR111	G	4	4
GPR115	221393	broad.mit.edu	36	6	47790125	47790125	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:47790125G>A	uc003oyz.1	+	c.1356G>A	c.(1354-1356)TCG>TCA	p.S452S	GPR115_uc003oza.1_Silent_p.S395S|GPR115_uc003ozb.1_Silent_p.S395S	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115	395	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|breast(1)	4						GBM(22;431 510 9010 26644 32828)								0.304762	79.045327	82.625993	32	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	47790125	47790125	6906	6	G	A	A	37	37	GPR115	A	1	1
C6orf138	442213	broad.mit.edu	36	6	47954623	47954623	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:47954623C>T	uc003oze.2	-	c.1865G>A	c.(1864-1866)CGA>CAA	p.R622Q		NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	639						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.542169	401.476925	401.869642	135	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47954623	47954623	2435	6	C	T	T	31	31	C6orf138	T	1	1
CDYL	9425	broad.mit.edu	36	6	4837044	4837044	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:4837044G>A	uc003mwi.1	+	c.285G>A	c.(283-285)CCG>CCA	p.P95P	CDYL_uc003mwj.1_Silent_p.P41P|CDYL_uc003mwk.1_Intron	NM_004824	NP_736608	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	95	Chromo.				chromatin assembly or disassembly|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	chromatin|nucleus	chromatin binding|histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)												0.344086	87.173238	89.169319	32	61	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.182)	Silent	SNP	4837044	4837044	3318	6	G	A	A	39	39	CDYL	A	1	1
MUT	4594	broad.mit.edu	36	6	49507473	49507473	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:49507473C>T	uc003ozg.2	-	c.2180G>A	c.(2179-2181)CGA>CAA	p.R727Q		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	727	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.296386	305.561051	320.951087	123	292	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49507473	49507473	10385	6	C	T	T	31	31	MUT	T	1	1
MUT	4594	broad.mit.edu	36	6	49517586	49517586	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:49517586C>T	uc003ozg.2	-	c.1734G>A	c.(1732-1734)GCG>GCA	p.A578A		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	578					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.291946	216.295565	227.854946	87	211	CC		KEEP	---	---	---	---	capture			Silent	SNP	49517586	49517586	10385	6	C	T	T	31	31	MUT	T	1	1
MUT	4594	broad.mit.edu	36	6	49523371	49523371	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:49523371G>A	uc003ozg.2	-	c.1531C>T	c.(1531-1533)CGA>TGA	p.R511*		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	511					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.244604	75.17716	83.4424	34	105	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49523371	49523371	10385	6	G	A	A	38	38	MUT	A	5	1
RHAG	6005	broad.mit.edu	36	6	49695026	49695026	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:49695026C>A	uc003ozk.2	-	c.166G>T	c.(166-168)GAT>TAT	p.D56Y	RHAG_uc010jzl.1_Missense_Mutation_p.D56Y|RHAG_uc010jzm.1_Missense_Mutation_p.D56Y	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	56	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)	1	Lung NSC(77;0.0255)					Ovarian(176;476 2003 7720 43408 44749)								0.288136	40.24475	42.623604	17	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49695026	49695026	13790	6	C	A	A	32	32	RHAG	A	3	3
PGK2	5232	broad.mit.edu	36	6	49862009	49862009	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:49862009A>G	uc003ozu.1	-	c.851T>C	c.(850-852)GTT>GCT	p.V284A		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	284					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)													0.286604	271.151186	284.278542	92	229	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49862009	49862009	12214	6	A	G	G	2	2	PGK2	G	4	4
PGK2	5232	broad.mit.edu	36	6	49862648	49862648	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:49862648G>A	uc003ozu.1	-	c.212C>T	c.(211-213)CCC>CTC	p.P71L		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	71					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)													0.599099	428.308428	430.213179	133	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49862648	49862648	12214	6	G	A	A	43	43	PGK2	A	2	2
DEFB114	245928	broad.mit.edu	36	6	50039756	50039756	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:50039756G>A	uc003ozz.1	-	c.22C>T	c.(22-24)CAT>TAT	p.H8Y		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	beta-defensin 114	8					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)													0.292135	71.113657	74.557884	26	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50039756	50039756	4580	6	G	A	A	47	47	DEFB114	A	2	2
PKHD1	5314	broad.mit.edu	36	6	51764023	51764023	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:51764023T>C	uc003pah.1	-	c.8410A>G	c.(8410-8412)ATG>GTG	p.M2804V	PKHD1_uc010jzn.1_Missense_Mutation_p.M787V|PKHD1_uc003pai.1_Missense_Mutation_p.M2804V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2804	G8 2.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.567568	401.186821	402.075429	126	96	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51764023	51764023	12396	6	T	C	C	51	51	PKHD1	C	4	4
PKHD1	5314	broad.mit.edu	36	6	51820662	51820662	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:51820662C>T	uc003pah.1	-	c.7977G>A	c.(7975-7977)CCG>CCA	p.P2659P	PKHD1_uc010jzn.1_Silent_p.P642P|PKHD1_uc003pai.1_Silent_p.P2659P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2659	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.242009	117.561001	130.861144	53	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	51820662	51820662	12396	6	C	T	T	27	27	PKHD1	T	1	1
PKHD1	5314	broad.mit.edu	36	6	51828826	51828826	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:51828826C>T	uc003pah.1	-	c.7735G>A	c.(7735-7737)GCG>ACG	p.A2579T	PKHD1_uc010jzn.1_Missense_Mutation_p.A562T|PKHD1_uc003pai.1_Missense_Mutation_p.A2579T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2579	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.633136	353.562358	356.193948	107	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51828826	51828826	12396	6	C	T	T	28	28	PKHD1	T	2	2
PKHD1	5314	broad.mit.edu	36	6	51859931	51859931	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:51859931C>T	uc003pah.1	-	c.7068G>A	c.(7066-7068)CCG>CCA	p.P2356P	PKHD1_uc010jzn.1_Silent_p.P339P|PKHD1_uc003pai.1_Silent_p.P2356P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2356	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)								p.P2356P(JHUEM1-Tumor)	1537				0.23741	69.657389	78.382402	33	106	CC		KEEP	---	---	---	---	capture			Silent	SNP	51859931	51859931	12396	6	C	T	T	27	27	PKHD1	T	1	1
PKHD1	5314	broad.mit.edu	36	6	51885207	51885207	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:51885207C>A	uc003pah.1	-	c.6248G>T	c.(6247-6249)GGT>GTT	p.G2083V	PKHD1_uc010jzn.1_Missense_Mutation_p.G108V|PKHD1_uc003pai.1_Missense_Mutation_p.G2083V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2083	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.269231	176.730471	189.229013	70	190	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51885207	51885207	12396	6	C	A	A	18	18	PKHD1	A	3	3
PKHD1	5314	broad.mit.edu	36	6	52017726	52017726	+	Silent	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52017726A>T	uc003pah.1	-	c.2712T>A	c.(2710-2712)ACT>ACA	p.T904T	PKHD1_uc003pai.1_Silent_p.T904T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	904	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.609929	252.45874	253.947376	86	55	AA		KEEP	---	---	---	---	capture			Silent	SNP	52017726	52017726	12396	6	A	T	T	11	11	PKHD1	T	4	4
PKHD1	5314	broad.mit.edu	36	6	52044923	52044923	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52044923C>T	uc003pah.1	-	c.551G>A	c.(550-552)GGA>GAA	p.G184E	PKHD1_uc003pai.1_Missense_Mutation_p.G184E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	184	IPT/TIG 2.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.298969	74.234238	77.739666	29	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52044923	52044923	12396	6	C	T	T	30	30	PKHD1	T	2	2
IL17F	112744	broad.mit.edu	36	6	52211518	52211518	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52211518C>T	uc003pam.1	-	c.223G>A	c.(223-225)GAG>AAG	p.E75K	IL17F_uc003pal.1_Missense_Mutation_p.E21K	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	interleukin 17F precursor	75					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			ovary(1)	1	Lung NSC(77;0.116)													0.240506	43.484605	48.340275	19	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52211518	52211518	7939	6	C	T	T	31	31	IL17F	T	1	1
IL17F	112744	broad.mit.edu	36	6	52211687	52211687	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52211687C>T	uc003pam.1	-	c.54G>A	c.(52-54)TCG>TCA	p.S18S	IL17F_uc003pal.1_5'UTR	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	interleukin 17F precursor	18					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			ovary(1)	1	Lung NSC(77;0.116)													0.309524	98.579697	102.652234	39	87	CC		KEEP	---	---	---	---	capture			Silent	SNP	52211687	52211687	7939	6	C	T	T	31	31	IL17F	T	1	1
MCM3	4172	broad.mit.edu	36	6	52239425	52239425	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52239425C>A	uc003pan.1	-	c.2101G>T	c.(2101-2103)GAT>TAT	p.D701Y		NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	701					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)													0.568898	823.358548	825.449403	289	219	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52239425	52239425	9776	6	C	A	A	32	32	MCM3	A	3	3
MCM3	4172	broad.mit.edu	36	6	52240675	52240675	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52240675C>A	uc003pan.1	-	c.2019G>T	c.(2017-2019)GAG>GAT	p.E673D		NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	673					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)													0.272727	30.848305	33.453014	15	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52240675	52240675	9776	6	C	A	A	32	32	MCM3	A	3	3
EFHC1	114327	broad.mit.edu	36	6	52411283	52411283	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52411283C>T	uc003pap.2	+	c.508C>T	c.(508-510)CGA>TGA	p.R170*		NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	170	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)	2	Lung NSC(77;0.109)													0.587786	224.978864	225.857835	77	54	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	52411283	52411283	5134	6	C	T	T	31	31	EFHC1	T	5	1
TRAM2	9697	broad.mit.edu	36	6	52549656	52549656	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52549656C>T	uc003paq.1	-	c.17G>A	c.(16-18)AGG>AAG	p.R6K		NM_012288	NP_036420	Q15035	TRAM2_HUMAN	translocation-associated membrane protein 2	6					collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding				0	Lung NSC(77;0.109)											OREG0017497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.258065	19.883546	21.529332	8	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52549656	52549656	16997	6	C	T	T	24	24	TRAM2	T	2	2
GSTA5	221357	broad.mit.edu	36	6	52805647	52805647	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52805647G>A	uc003pba.1	-	c.515C>T	c.(514-516)TCG>TTG	p.S172L		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	172	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)									0.558824	279.025804	279.536105	95	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52805647	52805647	7114	6	G	A	A	37	37	GSTA5	A	1	1
ICK	22858	broad.mit.edu	36	6	53013903	53013903	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:53013903C>T	uc003pbh.2	-	c.91G>A	c.(91-93)GCT>ACT	p.A31T	ICK_uc003pbi.2_Missense_Mutation_p.A31T|ICK_uc003pbj.1_Missense_Mutation_p.A31T	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	31	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development|protein phosphorylation	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)									283				0.548837	334.652019	335.09876	118	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53013903	53013903	7784	6	C	T	T	27	27	ICK	T	1	1
GCM1	8521	broad.mit.edu	36	6	53101641	53101641	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:53101641G>A	uc003pbp.1	-	c.633C>T	c.(631-633)GGC>GGT	p.G211G		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	211					regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)													0.241935	96.711805	107.99364	45	141	GG		KEEP	---	---	---	---	capture			Silent	SNP	53101641	53101641	6563	6	G	A	A	38	38	GCM1	A	1	1
FARS2	10667	broad.mit.edu	36	6	5314264	5314264	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:5314264G>A	uc010jnv.1	+	c.462G>A	c.(460-462)GCG>GCA	p.A154A	FARS2_uc003mwr.2_Silent_p.A154A|FARS2_uc003mws.1_Silent_p.A154A	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	154					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)									0.205263	77.117286	92.432436	39	151	GG		KEEP	---	---	---	---	capture			Silent	SNP	5314264	5314264	5914	6	G	A	A	38	38	FARS2	A	1	1
ELOVL5	60481	broad.mit.edu	36	6	53264706	53264706	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:53264706C>A	uc003pbq.1	-	c.73G>T	c.(73-75)GGA>TGA	p.G25*	ELOVL5_uc003pbr.1_Nonsense_Mutation_p.G25*|ELOVL5_uc003pbs.1_Nonsense_Mutation_p.G25*	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	25					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Lung NSC(77;0.116)													0.302326	92.959656	97.470038	39	90	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	53264706	53264706	5269	6	C	A	A	24	24	ELOVL5	A	5	3
GCLC	2729	broad.mit.edu	36	6	53479675	53479675	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:53479675A>C	uc003pbw.1	-	c.1192T>G	c.(1192-1194)TTT>GTT	p.F398V	GCLC_uc003pbv.1_Missense_Mutation_p.F122V	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	398					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)									0.190476	28.363004	34.004897	12	51	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53479675	53479675	6561	6	A	C	C	1	1	GCLC	C	4	4
LRRC1	55227	broad.mit.edu	36	6	53872632	53872632	+	Silent	SNP	G	A	A	rs3813848	by-cluster,by-frequency,by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:53872632G>A	uc003pcd.1	+	c.771G>A	c.(769-771)ACG>ACA	p.T257T		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	257	LRR 11.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)													0.245902	70.188629	77.3627	30	92	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0745)	Silent	SNP	53872632	53872632	9339	6	G	A	A	37	37	LRRC1	A	1	1
FAM83B	222584	broad.mit.edu	36	6	54843067	54843067	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:54843067C>T	uc003pck.1	+	c.64C>T	c.(64-66)CCT>TCT	p.P22S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	22										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.180488	63.43472	83.148694	37	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54843067	54843067	5860	6	C	T	T	26	26	FAM83B	T	2	2
FAM83B	222584	broad.mit.edu	36	6	54900266	54900266	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:54900266A>C	uc003pck.1	+	c.611A>C	c.(610-612)AAT>ACT	p.N204T		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	204										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.603448	231.566922	232.652096	70	46	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54900266	54900266	5860	6	A	C	C	4	4	FAM83B	C	4	4
FAM83B	222584	broad.mit.edu	36	6	54914713	54914713	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:54914713G>T	uc003pck.1	+	c.2985G>T	c.(2983-2985)AAG>AAT	p.K995N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	995										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.573171	151.137284	151.520788	47	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54914713	54914713	5860	6	G	T	T	36	36	FAM83B	T	3	3
BMP5	653	broad.mit.edu	36	6	55847498	55847498	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:55847498C>A	uc003pcq.1	-	c.125G>T	c.(124-126)AGA>ATA	p.R42I		NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	42					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)													0.262687	194.726077	211.811311	88	247	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.181)		Missense_Mutation	SNP	55847498	55847498	1488	6	C	A	A	32	32	BMP5	A	3	3
DST	667	broad.mit.edu	36	6	56432938	56432938	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56432938T>C	uc003pcz.2	-	c.16181A>G	c.(16180-16182)GAC>GGC	p.D5394G	DST_uc003pcy.2_Missense_Mutation_p.D5068G|DST_uc003pcv.2_Missense_Mutation_p.D190G|DST_uc003pcw.2_Missense_Mutation_p.D151G|DST_uc003pcx.2_Missense_Mutation_p.D114G	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	7467					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)									2498				0.606061	132.910528	133.560808	40	26	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Missense_Mutation	SNP	56432938	56432938	4967	6	T	C	C	58	58	DST	C	4	4
DST	667	broad.mit.edu	36	6	56481349	56481349	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56481349G>A	uc003pcz.2	-	c.12285C>T	c.(12283-12285)ATC>ATT	p.I4095I	DST_uc003pcy.2_Silent_p.I3769I	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	6181					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)									2498				0.311404	186.330986	193.558632	71	157	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Silent	SNP	56481349	56481349	4967	6	G	A	A	41	41	DST	A	2	2
DST	667	broad.mit.edu	36	6	56482519	56482519	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56482519C>T	uc003pcz.2	-	c.12001G>A	c.(12001-12003)GAA>AAA	p.E4001K	DST_uc003pcy.2_Missense_Mutation_p.E3675K	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	6087	Spectrin 12.				cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)									2498				0.347518	122.318038	125.217972	49	92	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Missense_Mutation	SNP	56482519	56482519	4967	6	C	T	T	29	29	DST	T	2	2
DST	667	broad.mit.edu	36	6	56488324	56488324	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56488324G>T	uc003pcz.2	-	c.11568C>A	c.(11566-11568)TTC>TTA	p.F3856L	DST_uc003pcy.2_Missense_Mutation_p.F3530L	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	5942	Spectrin 11.				cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)									2498				0.677966	229.106567	232.415867	80	38	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Missense_Mutation	SNP	56488324	56488324	4967	6	G	T	T	33	33	DST	T	3	3
DST	667	broad.mit.edu	36	6	56502266	56502266	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56502266C>T	uc003pcz.2	-	c.10643G>A	c.(10642-10644)AGC>AAC	p.S3548N	DST_uc003pcy.2_Missense_Mutation_p.S3222N	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	5634					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)									2498				0.307143	103.45911	108.109868	43	97	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Missense_Mutation	SNP	56502266	56502266	4967	6	C	T	T	28	28	DST	T	2	2
DST	667	broad.mit.edu	36	6	56566828	56566828	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56566828C>A	uc003pcz.2	-	c.5427G>T	c.(5425-5427)AAG>AAT	p.K1809N	DST_uc003pcy.2_Missense_Mutation_p.K1483N|DST_uc010kaa.1_Non-coding_Transcript	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	3895					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)									2498				0.283951	102.528202	109.358702	46	116	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Missense_Mutation	SNP	56566828	56566828	4967	6	C	A	A	32	32	DST	A	3	3
DST	667	broad.mit.edu	36	6	56613144	56613144	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56613144C>T	uc003pcz.2	-	c.1613G>A	c.(1612-1614)GGC>GAC	p.G538D	DST_uc003pcy.2_Missense_Mutation_p.G212D|DST_uc003pdb.2_Missense_Mutation_p.G212D|DST_uc003pdc.2_Missense_Mutation_p.G212D|DST_uc003pdd.2_Missense_Mutation_p.G212D	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	538					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)									2498				0.258373	123.158532	134.214214	54	155	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Missense_Mutation	SNP	56613144	56613144	4967	6	C	T	T	26	26	DST	T	2	2
DST	667	broad.mit.edu	36	6	56613343	56613343	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56613343C>T	uc003pcz.2	-	c.1414G>A	c.(1414-1416)GAA>AAA	p.E472K	DST_uc003pcy.2_Missense_Mutation_p.E146K|DST_uc003pdb.2_Missense_Mutation_p.E146K|DST_uc003pdc.2_Missense_Mutation_p.E146K|DST_uc003pdd.2_Missense_Mutation_p.E146K	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	472					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)								p.E146K(HT115-Tumor)	2498				0.254335	101.115189	110.593496	44	129	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Missense_Mutation	SNP	56613343	56613343	4967	6	C	T	T	31	31	DST	T	1	1
KIAA1586	57691	broad.mit.edu	36	6	57025861	57025861	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:57025861C>A	uc003pdj.1	+	c.605C>A	c.(604-606)TCT>TAT	p.S202Y		NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	202							nucleic acid binding				0	Lung NSC(77;0.0969)													0.294521	101.854666	107.379243	43	103	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		Missense_Mutation	SNP	57025861	57025861	8554	6	C	A	A	32	32	KIAA1586	A	3	3
NRN1	51299	broad.mit.edu	36	6	5947687	5947687	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:5947687G>A	uc003mwt.1	-	c.176C>T	c.(175-177)GCG>GTG	p.A59V	NRN1_uc003mwu.1_Missense_Mutation_p.A33V	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	33						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)												0.574803	202.966411	203.583265	73	54	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	Missense_Mutation	SNP	5947687	5947687	11063	6	G	A	A	38	38	NRN1	A	1	1
LGSN	51557	broad.mit.edu	36	6	64048318	64048318	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:64048318C>T	uc003peh.1	-	c.1097G>A	c.(1096-1098)CGA>CAA	p.R366Q	LGSN_uc003pei.1_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	366					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(1)	1					L-Glutamic Acid(DB00142)									0.289308	220.458283	233.12254	92	226	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64048318	64048318	9085	6	C	T	T	31	31	LGSN	T	1	1
LGSN	51557	broad.mit.edu	36	6	64048558	64048558	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:64048558C>A	uc003peh.1	-	c.857G>T	c.(856-858)AGA>ATA	p.R286I	LGSN_uc003pei.1_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	286					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(1)	1					L-Glutamic Acid(DB00142)									0.280899	55.220371	59.073135	25	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64048558	64048558	9085	6	C	A	A	32	32	LGSN	A	3	3
PHF3	23469	broad.mit.edu	36	6	64447874	64447874	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:64447874G>A	uc003pep.1	+	c.259G>A	c.(259-261)GAT>AAT	p.D87N	PHF3_uc010kaf.1_Missense_Mutation_p.D87N|PHF3_uc003pem.2_Missense_Mutation_p.D40N|PHF3_uc010kag.1_5'UTR|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.D87N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	87					multicellular organismal development	nucleus	zinc ion binding			ovary(2)|lung(1)|skin(1)	4	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)					GBM(135;136 1820 29512 34071 46235)				350				0.565217	230.861426	231.373247	78	60	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		Missense_Mutation	SNP	64447874	64447874	12259	6	G	A	A	37	37	PHF3	A	1	1
PHF3	23469	broad.mit.edu	36	6	64468304	64468304	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:64468304G>T	uc003pep.1	+	c.3088G>T	c.(3088-3090)GAA>TAA	p.E1030*	PHF3_uc010kah.1_Nonsense_Mutation_p.E844*|PHF3_uc003pen.2_Nonsense_Mutation_p.E942*	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1030	TFIIS central.				multicellular organismal development	nucleus	zinc ion binding			ovary(2)|lung(1)|skin(1)	4	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)					GBM(135;136 1820 29512 34071 46235)				350				0.528302	156.589909	156.662765	56	50	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		Nonsense_Mutation	SNP	64468304	64468304	12259	6	G	T	T	33	33	PHF3	T	5	3
BAI3	577	broad.mit.edu	36	6	70091521	70091521	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:70091521T>G	uc003pev.2	+	c.2851T>G	c.(2851-2853)TTC>GTC	p.F951V	BAI3_uc010kak.1_Missense_Mutation_p.F951V|BAI3_uc003pex.1_Missense_Mutation_p.F81V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	951	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.277108	137.586359	145.002736	46	120	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70091521	70091521	1321	6	T	G	G	64	64	BAI3	G	4	4
LMBRD1	55788	broad.mit.edu	36	6	70480276	70480276	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:70480276G>A	uc003pfa.1	-	c.897C>T	c.(895-897)GGC>GGT	p.G299G	LMBRD1_uc003pez.1_Silent_p.G226G|LMBRD1_uc010kal.1_Silent_p.G226G|LMBRD1_uc003pfb.1_Non-coding_Transcript|LMBRD1_uc003pey.1_Silent_p.G95G	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	299	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1														0.262195	100.25271	108.643293	43	121	GG		KEEP	---	---	---	---	capture			Silent	SNP	70480276	70480276	9171	6	G	A	A	38	38	LMBRD1	A	1	1
LMBRD1	55788	broad.mit.edu	36	6	70518901	70518901	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:70518901T>G	uc003pfa.1	-	c.376A>C	c.(376-378)AAG>CAG	p.K126Q	LMBRD1_uc003pez.1_Missense_Mutation_p.K53Q|LMBRD1_uc010kal.1_Missense_Mutation_p.K53Q|LMBRD1_uc003pfb.1_Intron	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	126	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1														0.275	67.51939	71.163821	22	58	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70518901	70518901	9171	6	T	G	G	64	64	LMBRD1	G	4	4
LMBRD1	55788	broad.mit.edu	36	6	70557007	70557007	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:70557007C>T	uc003pfa.1	-	c.148G>A	c.(148-150)GCA>ACA	p.A50T	LMBRD1_uc003pez.1_5'UTR|LMBRD1_uc010kal.1_5'UTR|LMBRD1_uc003pfb.1_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	50	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1														0.508772	175.444843	175.452325	58	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70557007	70557007	9171	6	C	T	T	28	28	LMBRD1	T	2	2
COL19A1	1310	broad.mit.edu	36	6	70646255	70646255	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:70646255C>T	uc003pfc.1	+	c.75C>T	c.(73-75)ACC>ACT	p.T25T		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	25					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.217391	42.342389	49.129013	20	72	CC		KEEP	---	---	---	---	capture			Silent	SNP	70646255	70646255	3814	6	C	T	T	23	23	COL19A1	T	1	1
FAM135A	57579	broad.mit.edu	36	6	71292063	71292063	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:71292063A>G	uc003pfj.2	+	c.2555A>G	c.(2554-2556)GAT>GGT	p.D852G	FAM135A_uc003pfi.2_Missense_Mutation_p.D656G|FAM135A_uc003pfh.2_Missense_Mutation_p.D639G|FAM135A_uc003pfl.2_Missense_Mutation_p.D519G|FAM135A_uc003pfn.2_Intron|FAM135A_uc003pfo.1_Missense_Mutation_p.D223G|FAM135A_uc010kan.1_5'Flank	NM_001105531	NP_001099001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform a	852										central_nervous_system(1)	1														0.321739	113.448632	116.686654	37	78	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71292063	71292063	5645	6	A	G	G	12	12	FAM135A	G	4	4
RREB1	6239	broad.mit.edu	36	6	7134459	7134459	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7134459C>T	uc003mxb.1	+	c.330C>T	c.(328-330)AGC>AGT	p.S110S	RREB1_uc010jnw.1_Silent_p.S110S|RREB1_uc003mxc.1_Silent_p.S110S|RREB1_uc010jnx.1_Silent_p.S110S|RREB1_uc003mxd.2_Silent_p.S110S|RREB1_uc003mxe.1_Silent_p.S110S	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	110	C2H2-type 2.				multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.224138	31.443882	35.500955	13	45	CC		KEEP	---	---	---	---	capture			Silent	SNP	7134459	7134459	14159	6	C	T	T	28	28	RREB1	T	2	2
B3GAT2	135152	broad.mit.edu	36	6	71660561	71660561	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:71660561C>T	uc003pfv.1	-	c.727G>A	c.(727-729)GAC>AAC	p.D243N	B3GAT2_uc003pfw.2_Missense_Mutation_p.D243N	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	galactosylgalactosylxylosylprotein	243	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)	2														0.307692	69.649344	72.659845	28	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71660561	71660561	1275	6	C	T	T	31	31	B3GAT2	T	1	1
RREB1	6239	broad.mit.edu	36	6	7175477	7175477	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7175477C>T	uc003mxb.1	+	c.2146C>T	c.(2146-2148)CGG>TGG	p.R716W	RREB1_uc003mxc.1_Missense_Mutation_p.R716W|RREB1_uc010jnx.1_Missense_Mutation_p.R716W|RREB1_uc003mxe.1_Missense_Mutation_p.R716W	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	716	C2H2-type 9.				multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.246753	40.101245	44.588681	19	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7175477	7175477	14159	6	C	T	T	27	27	RREB1	T	1	1
RREB1	6239	broad.mit.edu	36	6	7176009	7176009	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7176009C>T	uc003mxb.1	+	c.2678C>T	c.(2677-2679)GCG>GTG	p.A893V	RREB1_uc003mxc.1_Missense_Mutation_p.A893V|RREB1_uc010jnx.1_Missense_Mutation_p.A893V|RREB1_uc003mxe.1_Missense_Mutation_p.A893V	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	893					multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.22963	62.063929	71.110627	31	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7176009	7176009	14159	6	C	T	T	27	27	RREB1	T	1	1
RREB1	6239	broad.mit.edu	36	6	7176264	7176264	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7176264C>A	uc003mxb.1	+	c.2933C>A	c.(2932-2934)TCT>TAT	p.S978Y	RREB1_uc003mxc.1_Missense_Mutation_p.S978Y|RREB1_uc010jnx.1_Missense_Mutation_p.S978Y|RREB1_uc003mxe.1_Missense_Mutation_p.S978Y	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	978	Pro-rich.				multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.28	44.22949	47.503809	21	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7176264	7176264	14159	6	C	A	A	32	32	RREB1	A	3	3
RREB1	6239	broad.mit.edu	36	6	7192318	7192318	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7192318G>A	uc003mxb.1	+	c.4636G>A	c.(4636-4638)GAT>AAT	p.D1546N	RREB1_uc003mxc.1_Missense_Mutation_p.D1491N|RREB1_uc010jnx.1_Intron|RREB1_uc003mxe.1_Missense_Mutation_p.D1491N	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1491					multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.255319	26.377779	28.931128	12	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7192318	7192318	14159	6	G	A	A	37	37	RREB1	A	1	1
OGFRL1	79627	broad.mit.edu	36	6	72068366	72068366	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:72068366A>C	uc003pfx.1	+	c.1249A>C	c.(1249-1251)AAA>CAA	p.K417Q		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	417						membrane	receptor activity				0														0.544444	337.882215	338.194387	98	82	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72068366	72068366	11249	6	A	C	C	1	1	OGFRL1	C	4	4
SSR1	6745	broad.mit.edu	36	6	7246705	7246705	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7246705G>A	uc003mxf.2	-	c.380C>T	c.(379-381)CCT>CTT	p.P127L	SSR1_uc003mxg.2_Intron|SSR1_uc010jny.1_Missense_Mutation_p.P127L	NM_003144	NP_003135	P43307	SSRA_HUMAN	signal sequence receptor, alpha	127	Lumenal (Potential).				cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Ovarian(93;0.0398)													0.271186	85.44404	91.018054	32	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7246705	7246705	15706	6	G	A	A	35	35	SSR1	A	2	2
RIMS1	22999	broad.mit.edu	36	6	73073777	73073777	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:73073777C>T	uc003pga.1	+	c.3946C>T	c.(3946-3948)CGC>TGC	p.R1316C	RIMS1_uc003pgc.1_Missense_Mutation_p.R765C|RIMS1_uc010kar.1_Intron|RIMS1_uc003pgh.1_Intron|RIMS1_uc003pgi.1_Intron|RIMS1_uc003pgd.1_Missense_Mutation_p.R382C|RIMS1_uc003pge.1_Missense_Mutation_p.R356C|RIMS1_uc003pgf.1_Missense_Mutation_p.R325C|RIMS1_uc003pgg.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1316					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)												0.230769	6.918158	7.781819	3	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73073777	73073777	13844	6	C	T	T	31	31	RIMS1	T	1	1
KCNQ5	56479	broad.mit.edu	36	6	73808458	73808458	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:73808458G>A	uc003pgk.1	+	c.568G>A	c.(568-570)GGA>AGA	p.G190R	KCNQ5_uc003pgj.2_Missense_Mutation_p.G190R|KCNQ5_uc010kat.1_Missense_Mutation_p.G190R	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	190					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)	6		all_epithelial(107;0.116)|Lung NSC(302;0.219)				GBM(142;1375 1859 14391 23261 44706)								0.263285	296.777086	317.76191	109	305	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Missense_Mutation	SNP	73808458	73808458	8391	6	G	A	A	35	35	KCNQ5	A	2	2
C6orf221	154288	broad.mit.edu	36	6	74130271	74130271	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74130271C>T	uc003pgt.2	+	c.621C>T	c.(619-621)CGC>CGT	p.R207R		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	207											0														0.168421	27.144391	37.035866	16	79	CC		KEEP	---	---	---	---	capture			Silent	SNP	74130271	74130271	2460	6	C	T	T	27	27	C6orf221	T	1	1
OOEP	441161	broad.mit.edu	36	6	74136056	74136056	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74136056C>T	uc003pgu.2	-	c.181G>A	c.(181-183)GAG>AAG	p.E61K	OOEP_uc003pgv.2_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	61	KH; atypical.					cytoplasm					0														0.57047	247.983865	248.630114	85	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74136056	74136056	11276	6	C	T	T	31	31	OOEP	T	1	1
DDX43	55510	broad.mit.edu	36	6	74174035	74174035	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74174035A>C	uc003pgw.1	+	c.1013A>C	c.(1012-1014)AAA>ACA	p.K338T		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	338	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)	3														0.219178	125.782416	141.697288	48	171	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74174035	74174035	4534	6	A	C	C	1	1	DDX43	C	4	4
MTO1	25821	broad.mit.edu	36	6	74267167	74267167	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74267167G>T	uc010kav.1	+	c.2187G>T	c.(2185-2187)GAG>GAT	p.E729D	MTO1_uc003pgy.2_Missense_Mutation_p.E714D|MTO1_uc003pgz.2_Missense_Mutation_p.E689D|MTO1_uc003pha.2_Missense_Mutation_p.E351D|MTO1_uc003phb.2_Missense_Mutation_p.E640D	NM_001123226	NP_001116698	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	714					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(2)|pancreas(1)	3														0.455556	109.753859	109.909874	41	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74267167	74267167	10346	6	G	T	T	33	33	MTO1	T	3	3
SLC17A5	26503	broad.mit.edu	36	6	74388321	74388321	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74388321T>C	uc003phn.2	-	c.905A>G	c.(904-906)AAC>AGC	p.N302S	SLC17A5_uc010kax.1_Intron|SLC17A5_uc010kay.1_Non-coding_Transcript	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	302					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity				0														0.552632	147.859858	148.043665	42	34	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74388321	74388321	14916	6	T	C	C	60	60	SLC17A5	C	4	4
CD109	135228	broad.mit.edu	36	6	74530124	74530124	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74530124G>A	uc003php.1	+	c.1102G>A	c.(1102-1104)GCC>ACC	p.A368T	CD109_uc010kaz.1_Missense_Mutation_p.A368T|CD109_uc003phq.1_Missense_Mutation_p.A368T|CD109_uc010kba.1_Missense_Mutation_p.A291T	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109	368						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4														0.258333	71.660397	78.01768	31	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74530124	74530124	3090	6	G	A	A	34	34	CD109	A	2	2
CD109	135228	broad.mit.edu	36	6	74559150	74559150	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74559150A>C	uc003php.1	+	c.2782A>C	c.(2782-2784)AAT>CAT	p.N928H	CD109_uc010kaz.1_Intron|CD109_uc003phq.1_Missense_Mutation_p.N928H|CD109_uc010kba.1_Missense_Mutation_p.N851H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109	928						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4														0.565789	455.908916	456.770998	129	99	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74559150	74559150	3090	6	A	C	C	1	1	CD109	C	4	4
DSP	1832	broad.mit.edu	36	6	7507949	7507949	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7507949C>T	uc003mxp.1	+	c.663C>T	c.(661-663)CAC>CAT	p.H221H	DSP_uc003mxq.1_Silent_p.H221H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	221	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)												0.340426	112.598654	115.79963	48	93	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	Silent	SNP	7507949	7507949	4965	6	C	T	T	18	18	DSP	T	2	2
DSP	1832	broad.mit.edu	36	6	7513724	7513724	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7513724A>C	uc003mxp.1	+	c.1322A>C	c.(1321-1323)AAG>ACG	p.K441T	DSP_uc003mxq.1_Missense_Mutation_p.K441T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	441	Globular 1.|Spectrin 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)												0.565714	307.738297	308.396224	99	76	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	Missense_Mutation	SNP	7513724	7513724	4965	6	A	C	C	3	3	DSP	C	4	4
DSP	1832	broad.mit.edu	36	6	7516742	7516742	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7516742C>T	uc003mxp.1	+	c.1829C>T	c.(1828-1830)TCT>TTT	p.S610F	DSP_uc003mxq.1_Missense_Mutation_p.S610F	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	610	Globular 1.				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)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)												0.306122	243.627116	253.48975	90	204	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	Missense_Mutation	SNP	7516742	7516742	4965	6	C	T	T	32	32	DSP	T	2	2
DSP	1832	broad.mit.edu	36	6	7525757	7525757	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7525757G>A	uc003mxp.1	+	c.4335G>A	c.(4333-4335)CAG>CAA	p.Q1445Q	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1445	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)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)												0.284615	95.815978	101.233252	37	93	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	Silent	SNP	7525757	7525757	4965	6	G	A	A	34	34	DSP	A	2	2
DSP	1832	broad.mit.edu	36	6	7530919	7530919	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7530919T>C	uc003mxp.1	+	c.8425T>C	c.(8425-8427)TCG>CCG	p.S2809P	DSP_uc003mxq.1_Missense_Mutation_p.S2210P	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2809	Globular 2.				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)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)												0.571429	658.846123	660.331378	192	144	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	Missense_Mutation	SNP	7530919	7530919	4965	6	T	C	C	58	58	DSP	C	4	4
COL12A1	1303	broad.mit.edu	36	6	75875456	75875456	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:75875456C>T	uc010kbb.1	-	c.8098G>A	c.(8098-8100)GCA>ACA	p.A2700T	COL12A1_uc010kbc.1_Missense_Mutation_p.A1536T|COL12A1_uc003phs.1_Missense_Mutation_p.A2700T|COL12A1_uc003pht.1_Missense_Mutation_p.A1536T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2700	TSP N-terminal.|Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.256039	121.48075	132.653494	53	154	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75875456	75875456	3807	6	C	T	T	27	27	COL12A1	T	1	1
COL12A1	1303	broad.mit.edu	36	6	75914173	75914173	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:75914173A>G	uc010kbb.1	-	c.4355T>C	c.(4354-4356)GTC>GCC	p.V1452A	COL12A1_uc010kbc.1_Missense_Mutation_p.V288A|COL12A1_uc003phs.1_Missense_Mutation_p.V1452A|COL12A1_uc003pht.1_Missense_Mutation_p.V288A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1452	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.296	219.83921	229.154685	74	176	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75914173	75914173	3807	6	A	G	G	10	10	COL12A1	G	4	4
COL12A1	1303	broad.mit.edu	36	6	75914801	75914801	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:75914801C>T	uc010kbb.1	-	c.4280G>A	c.(4279-4281)CGT>CAT	p.R1427H	COL12A1_uc010kbc.1_Missense_Mutation_p.R263H|COL12A1_uc003phs.1_Missense_Mutation_p.R1427H|COL12A1_uc003pht.1_Missense_Mutation_p.R263H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1427	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.269939	103.222641	111.010838	44	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75914801	75914801	3807	6	C	T	T	19	19	COL12A1	T	1	1
COL12A1	1303	broad.mit.edu	36	6	75941546	75941546	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:75941546C>T	uc010kbb.1	-	c.2638G>A	c.(2638-2640)GCC>ACC	p.A880T	COL12A1_uc010kbc.1_Intron|COL12A1_uc003phs.1_Missense_Mutation_p.A880T|COL12A1_uc003pht.1_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	880	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.58806	555.171124	557.432455	197	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75941546	75941546	3807	6	C	T	T	27	27	COL12A1	T	1	1
COL12A1	1303	broad.mit.edu	36	6	75944275	75944275	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:75944275C>T	uc010kbb.1	-	c.2261G>A	c.(2260-2262)CGA>CAA	p.R754Q	COL12A1_uc010kbc.1_Intron|COL12A1_uc003phs.1_Missense_Mutation_p.R754Q|COL12A1_uc003pht.1_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.R412Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	754	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.306283	290.631909	303.416755	117	265	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75944275	75944275	3807	6	C	T	T	31	31	COL12A1	T	1	1
COL12A1	1303	broad.mit.edu	36	6	75950404	75950404	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:75950404G>A	uc010kbb.1	-	c.1174C>T	c.(1174-1176)CGC>TGC	p.R392C	COL12A1_uc010kbc.1_Intron|COL12A1_uc003phs.1_Missense_Mutation_p.R392C|COL12A1_uc003pht.1_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.R50C	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	392	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.297619	181.41631	190.651589	75	177	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75950404	75950404	3807	6	G	A	A	37	37	COL12A1	A	1	1
COL12A1	1303	broad.mit.edu	36	6	75956160	75956160	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:75956160G>A	uc010kbb.1	-	c.486C>T	c.(484-486)TTC>TTT	p.F162F	COL12A1_uc010kbc.1_Intron|COL12A1_uc003phs.1_Silent_p.F162F|COL12A1_uc003pht.1_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	162	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.276018	145.262634	155.256617	61	160	GG		KEEP	---	---	---	---	capture			Silent	SNP	75956160	75956160	3807	6	G	A	A	45	45	COL12A1	A	2	2
TMEM30A	55754	broad.mit.edu	36	6	76022705	76022705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76022705G>A	uc003phw.1	-	c.919C>T	c.(919-921)CGA>TGA	p.R307*	TMEM30A_uc003phx.1_Nonsense_Mutation_p.R271*	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	transmembrane protein 30A isoform 1	307						integral to membrane					0														0.567568	246.404109	246.991274	84	64	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	76022705	76022705	16692	6	G	A	A	40	40	TMEM30A	A	5	1
FILIP1	27145	broad.mit.edu	36	6	76075321	76075321	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76075321C>T	uc010kbe.1	-	c.3457G>A	c.(3457-3459)GGG>AGG	p.G1153R	FILIP1_uc003phy.1_Missense_Mutation_p.G1150R|FILIP1_uc003pia.1_Missense_Mutation_p.G1150R|FILIP1_uc003phz.1_Missense_Mutation_p.G1051R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1150											0														0.2	58.425304	70.142333	28	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76075321	76075321	6132	6	C	T	T	23	23	FILIP1	T	1	1
FILIP1	27145	broad.mit.edu	36	6	76079204	76079204	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76079204C>T	uc010kbe.1	-	c.3073G>A	c.(3073-3075)GCA>ACA	p.A1025T	FILIP1_uc003phy.1_Missense_Mutation_p.A1022T|FILIP1_uc003pia.1_Missense_Mutation_p.A1022T|FILIP1_uc003phz.1_Missense_Mutation_p.A923T|FILIP1_uc003pib.1_Missense_Mutation_p.A774T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1022											0														0.250909	145.807537	161.345308	69	206	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76079204	76079204	6132	6	C	T	T	25	25	FILIP1	T	2	2
FILIP1	27145	broad.mit.edu	36	6	76079341	76079341	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76079341C>T	uc010kbe.1	-	c.2936G>A	c.(2935-2937)CGA>CAA	p.R979Q	FILIP1_uc003phy.1_Missense_Mutation_p.R976Q|FILIP1_uc003pia.1_Missense_Mutation_p.R976Q|FILIP1_uc003phz.1_Missense_Mutation_p.R877Q|FILIP1_uc003pib.1_Missense_Mutation_p.R728Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	976											0														0.317949	158.487678	164.229374	62	133	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76079341	76079341	6132	6	C	T	T	31	31	FILIP1	T	1	1
SENP6	26054	broad.mit.edu	36	6	76479978	76479978	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76479978G>A	uc003pid.2	+	c.2939G>A	c.(2938-2940)CGA>CAA	p.R980Q	SENP6_uc003pie.2_Missense_Mutation_p.R973Q|SENP6_uc010kbf.1_Non-coding_Transcript	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	980	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			urinary_tract(1)|ovary(1)|breast(1)|skin(1)	4		all_hematologic(105;0.189)												0.308571	138.379681	144.098123	54	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76479978	76479978	14536	6	G	A	A	37	37	SENP6	A	1	1
MYO6	4646	broad.mit.edu	36	6	76596862	76596862	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76596862G>A	uc003pih.1	+	c.271G>A	c.(271-273)GCC>ACC	p.A91T	MYO6_uc003pig.1_Missense_Mutation_p.A91T|MYO6_uc003pii.1_Missense_Mutation_p.A91T	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	91	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)												0.197674	67.757235	82.39541	34	138	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.223)	Missense_Mutation	SNP	76596862	76596862	10476	6	G	A	A	38	38	MYO6	A	1	1
MYO6	4646	broad.mit.edu	36	6	76602337	76602337	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76602337G>T	uc003pih.1	+	c.498_splice	c.e7-1	p.R166_splice	MYO6_uc003pig.1_Splice_Site_SNP_p.R166_splice|MYO6_uc003pii.1_Splice_Site_SNP_p.R166_splice	NM_004999	NP_004990			myosin VI						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)												0.236559	47.996487	53.901984	22	71	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.223)	Splice_Site_SNP	SNP	76602337	76602337	10476	6	G	T	T	33	33	MYO6	T	5	3
MYO6	4646	broad.mit.edu	36	6	76681381	76681381	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76681381A>C	uc003pih.1	+	c.3790A>C	c.(3790-3792)AAT>CAT	p.N1264H	MYO6_uc003pii.1_Missense_Mutation_p.N1241H|MYO6_uc003pij.1_Missense_Mutation_p.N212H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1273					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)												0.555556	135.509613	135.703656	40	32	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.223)	Missense_Mutation	SNP	76681381	76681381	10476	6	A	C	C	9	9	MYO6	C	4	4
BMP6	654	broad.mit.edu	36	6	7807553	7807553	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7807553G>A	uc003mxu.2	+	c.1027G>A	c.(1027-1029)GCC>ACC	p.A343T		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	343			A -> D (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)													0.275304	174.584257	185.820285	68	179	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7807553	7807553	1489	6	G	A	A	34	34	BMP6	A	2	2
TXNDC5	81567	broad.mit.edu	36	6	7840411	7840411	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7840411C>T	uc003mxv.1	-	c.543G>A	c.(541-543)CCG>CCA	p.P181P	TXNDC5_uc003mxw.1_Silent_p.P138P|TXNDC5_uc010jnz.1_Silent_p.P73P|TXNDC5_uc010joa.1_Silent_p.P73P	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	181	Thioredoxin 2.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					Ovarian(119;1430 1625 3928 26125 34589)								0.456522	58.370694	58.446092	21	25	CC		KEEP	---	---	---	---	capture			Silent	SNP	7840411	7840411	17355	6	C	T	T	27	27	TXNDC5	T	1	1
IRAK1BP1	134728	broad.mit.edu	36	6	79664394	79664394	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:79664394C>T	uc003pim.1	+	c.511C>T	c.(511-513)CGA>TGA	p.R171*	IRAK1BP1_uc010kbg.1_Non-coding_Transcript|IRAK1BP1_uc003pin.2_Nonsense_Mutation_p.R84*	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	171					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)								5				0.282828	135.410502	143.803776	56	142	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.21)	Nonsense_Mutation	SNP	79664394	79664394	8125	6	C	T	T	31	31	IRAK1BP1	T	5	1
PHIP	55023	broad.mit.edu	36	6	79707278	79707278	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:79707278G>A	uc003pir.1	-	c.5317C>T	c.(5317-5319)CGA>TGA	p.R1773*	IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pip.1_Nonsense_Mutation_p.R659*|PHIP_uc003piq.1_Nonsense_Mutation_p.R797*	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1773					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|ovary(1)	5		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)								490				0.270652	598.150986	641.816489	249	671	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.231)	Nonsense_Mutation	SNP	79707278	79707278	12266	6	G	A	A	37	37	PHIP	A	5	1
PHIP	55023	broad.mit.edu	36	6	79722070	79722070	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:79722070C>A	uc003pir.1	-	c.3831G>T	c.(3829-3831)AAG>AAT	p.K1277N	PHIP_uc003pip.1_Missense_Mutation_p.K163N|PHIP_uc003piq.1_Missense_Mutation_p.K301N	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1277					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|ovary(1)	5		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)								490				0.217391	20.021193	23.41264	10	36	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.231)	Missense_Mutation	SNP	79722070	79722070	12266	6	C	A	A	32	32	PHIP	A	3	3
PHIP	55023	broad.mit.edu	36	6	79724986	79724986	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:79724986C>T	uc003pir.1	-	c.3707G>A	c.(3706-3708)CGA>CAA	p.R1236Q	PHIP_uc003pip.1_Missense_Mutation_p.R122Q|PHIP_uc003piq.1_Missense_Mutation_p.R260Q	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1236	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|ovary(1)	5		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)								490				0.25	67.616154	74.209326	29	87	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.231)	Missense_Mutation	SNP	79724986	79724986	12266	6	C	T	T	31	31	PHIP	T	1	1
MUTED	63915	broad.mit.edu	36	6	7986488	7986488	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7986488G>T	uc003mxy.1	-	c.208C>A	c.(208-210)CTT>ATT	p.L70I	TXNDC5_uc003mxw.1_5'UTR|MUTED_uc010job.1_Non-coding_Transcript|MUTED_uc010joc.1_Missense_Mutation_p.L6I	NM_201280	NP_958437	Q8TDH9	MUTED_HUMAN	muted	70						BLOC-1 complex	protein binding				0	Ovarian(93;0.0398)													0.575	193.269803	193.855363	69	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7986488	7986488	10386	6	G	T	T	33	33	MUTED	T	3	3
MUTED	63915	broad.mit.edu	36	6	8007789	8007789	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:8007789G>A	uc003mxy.1	-	c.172C>T	c.(172-174)CGT>TGT	p.R58C	TXNDC5_uc003mxw.1_5'UTR|MUTED_uc010job.1_Non-coding_Transcript|MUTED_uc010joc.1_5'UTR	NM_201280	NP_958437	Q8TDH9	MUTED_HUMAN	muted	58						BLOC-1 complex	protein binding				0	Ovarian(93;0.0398)													0.536232	110.275774	110.354326	37	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8007789	8007789	10386	6	G	A	A	37	37	MUTED	A	1	1
LCA5	167691	broad.mit.edu	36	6	80253881	80253881	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:80253881G>A	uc003pix.1	-	c.1653C>T	c.(1651-1653)TTC>TTT	p.F551F	LCA5_uc003piy.1_Silent_p.F551F	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	551					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)												0.285024	143.241546	151.828048	59	148	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0657)	Silent	SNP	80253881	80253881	8979	6	G	A	A	37	37	LCA5	A	1	1
EEF1E1	9521	broad.mit.edu	36	6	8042690	8042690	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:8042690G>A	uc003mxz.1	-	c.97C>T	c.(97-99)CTT>TTT	p.L33F		NM_004280	NP_004271	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1	33					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus					0	Ovarian(93;0.0398)													0.646154	127.358837	128.58006	42	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8042690	8042690	5114	6	G	A	A	33	33	EEF1E1	A	2	2
EEF1E1	9521	broad.mit.edu	36	6	8047721	8047721	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:8047721C>A	uc003mxz.1	-	c.33G>T	c.(31-33)GAG>GAT	p.E11D		NM_004280	NP_004271	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1	11					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus					0	Ovarian(93;0.0398)													0.288136	37.940224	40.322548	17	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8047721	8047721	5114	6	C	A	A	32	32	EEF1E1	A	3	3
BCKDHB	594	broad.mit.edu	36	6	80934205	80934205	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:80934205G>A	uc003pjd.2	+	c.435G>A	c.(433-435)GCG>GCA	p.A145A	BCKDHB_uc003pje.2_Silent_p.A145A	NM_000056	NP_898871	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta	145					branched chain family amino acid catabolic process|oxidation-reduction process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)												0.572727	203.620629	204.125252	63	47	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0291)	Silent	SNP	80934205	80934205	1381	6	G	A	A	39	39	BCKDHB	A	1	1
BCKDHB	594	broad.mit.edu	36	6	80967417	80967417	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:80967417G>A	uc003pjd.2	+	c.790G>A	c.(790-792)GAA>AAA	p.E264K	BCKDHB_uc003pje.2_Missense_Mutation_p.E264K	NM_000056	NP_898871	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta	264					branched chain family amino acid catabolic process|oxidation-reduction process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)												0.637795	247.596435	249.716008	81	46	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0291)	Missense_Mutation	SNP	80967417	80967417	1381	6	G	A	A	37	37	BCKDHB	A	1	1
IBTK	25998	broad.mit.edu	36	6	82967066	82967066	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:82967066C>T	uc003pjl.1	-	c.2869G>A	c.(2869-2871)GAT>AAT	p.D957N	IBTK_uc010kbi.1_Missense_Mutation_p.D651N|IBTK_uc003pjm.1_Missense_Mutation_p.D957N	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	957					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)												0.296296	60.762815	63.772318	24	57	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0901)	Missense_Mutation	SNP	82967066	82967066	7776	6	C	T	T	32	32	IBTK	T	2	2
IBTK	25998	broad.mit.edu	36	6	82980685	82980685	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:82980685C>T	uc003pjl.1	-	c.2182G>A	c.(2182-2184)GAC>AAC	p.D728N	IBTK_uc010kbi.1_Missense_Mutation_p.D422N|IBTK_uc003pjm.1_Missense_Mutation_p.D728N	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	728					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)												0.326316	79.588901	82.132966	31	64	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0901)	Missense_Mutation	SNP	82980685	82980685	7776	6	C	T	T	31	31	IBTK	T	1	1
IBTK	25998	broad.mit.edu	36	6	83006885	83006885	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:83006885C>T	uc003pjl.1	-	c.38G>A	c.(37-39)CGA>CAA	p.R13Q	IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.1_Missense_Mutation_p.R13Q	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	13					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)												0.586047	380.370071	381.758183	126	89	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0901)	Missense_Mutation	SNP	83006885	83006885	7776	6	C	T	T	31	31	IBTK	T	1	1
UBE2CBP	90025	broad.mit.edu	36	6	83785511	83785511	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:83785511T>G	uc003pjp.1	-	c.910A>C	c.(910-912)AAA>CAA	p.K304Q	UBE2CBP_uc003pjq.1_Missense_Mutation_p.K94Q	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	304						cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)												0.292857	121.122934	126.498697	41	99	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0944)	Missense_Mutation	SNP	83785511	83785511	17404	6	T	G	G	64	64	UBE2CBP	G	4	4
UBE2CBP	90025	broad.mit.edu	36	6	83790451	83790451	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:83790451C>T	uc003pjp.1	-	c.693G>A	c.(691-693)GAG>GAA	p.E231E	UBE2CBP_uc003pjq.1_Silent_p.E21E	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	231						cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)												0.309091	44.850271	46.639	17	38	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0944)	Silent	SNP	83790451	83790451	17404	6	C	T	T	32	32	UBE2CBP	T	2	2
UBE2CBP	90025	broad.mit.edu	36	6	83804867	83804867	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:83804867C>A	uc003pjp.1	-	c.654G>T	c.(652-654)GAG>GAT	p.E218D	UBE2CBP_uc003pjr.2_Missense_Mutation_p.E186D	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	218						cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)												0.287293	120.007502	127.365152	52	129	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0944)	Missense_Mutation	SNP	83804867	83804867	17404	6	C	A	A	32	32	UBE2CBP	A	3	3
DOPEY1	23033	broad.mit.edu	36	6	83889367	83889367	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:83889367C>T	uc003pjs.1	+	c.1287C>T	c.(1285-1287)TTC>TTT	p.F429F	DOPEY1_uc010kbl.1_Silent_p.F420F	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	429					protein transport					ovary(2)|breast(1)	3		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)												0.264151	32.223165	34.891178	14	39	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.053)	Silent	SNP	83889367	83889367	4891	6	C	T	T	31	31	DOPEY1	T	1	1
DOPEY1	23033	broad.mit.edu	36	6	83891971	83891971	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:83891971C>T	uc003pjs.1	+	c.1519C>T	c.(1519-1521)CCC>TCC	p.P507S	DOPEY1_uc010kbl.1_Missense_Mutation_p.P498S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	507					protein transport					ovary(2)|breast(1)	3		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)												0.297414	168.468777	176.991955	69	163	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.053)	Missense_Mutation	SNP	83891971	83891971	4891	6	C	T	T	26	26	DOPEY1	T	2	2
ME1	4199	broad.mit.edu	36	6	84118555	84118555	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:84118555C>T	uc003pjy.1	-	c.385G>A	c.(385-387)GAT>AAT	p.D129N		NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	129					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|oxidation-reduction 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			ovary(1)	1		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)			NADH(DB00157)									0.26087	14.33989	15.530235	6	17	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0641)	Missense_Mutation	SNP	84118555	84118555	9806	6	C	T	T	31	31	ME1	T	1	1
PRSS35	167681	broad.mit.edu	36	6	84290223	84290223	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:84290223G>A	uc003pjz.1	+	c.344G>A	c.(343-345)GGA>GAA	p.G115E	PRSS35_uc010kbm.1_Missense_Mutation_p.G115E|PRSS35_uc010kbn.1_Missense_Mutation_p.G115E	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	115					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)												0.293785	134.465391	141.125563	52	125	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0768)	Missense_Mutation	SNP	84290223	84290223	13074	6	G	A	A	41	41	PRSS35	A	2	2
PRSS35	167681	broad.mit.edu	36	6	84290412	84290412	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:84290412T>C	uc003pjz.1	+	c.533T>C	c.(532-534)GTC>GCC	p.V178A	PRSS35_uc010kbm.1_Missense_Mutation_p.V178A|PRSS35_uc010kbn.1_Missense_Mutation_p.V178A	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	178	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)												0.217391	105.809054	119.352607	40	144	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0768)	Missense_Mutation	SNP	84290412	84290412	13074	6	T	C	C	58	58	PRSS35	C	4	4
SNAP91	9892	broad.mit.edu	36	6	84348773	84348773	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:84348773G>A	uc003pka.1	-	c.2036C>T	c.(2035-2037)GCG>GTG	p.A679V	SNAP91_uc003pkb.1_Missense_Mutation_p.A588V|SNAP91_uc003pkc.1_Missense_Mutation_p.A649V|SNAP91_uc003pkd.1_Missense_Mutation_p.A372V	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	679					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)												0.425287	94.658643	95.081551	37	50	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0967)	Missense_Mutation	SNP	84348773	84348773	15333	6	G	A	A	38	38	SNAP91	A	1	1
CYB5R4	51167	broad.mit.edu	36	6	84721865	84721865	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:84721865T>G	uc003pkf.1	+	c.1476T>G	c.(1474-1476)ATT>ATG	p.I492M		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	492					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|oxidation-reduction process|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)				Esophageal Squamous(86;1289 1332 25971 40349 52675)				343				0.328671	148.582655	152.300891	47	96	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0871)	Missense_Mutation	SNP	84721865	84721865	4294	6	T	G	G	64	64	CYB5R4	G	4	4
TBX18	9096	broad.mit.edu	36	6	85523288	85523288	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:85523288C>T	uc003pkl.1	-	c.618G>A	c.(616-618)TCG>TCA	p.S206S	TBX18_uc010kbq.1_Silent_p.S48S	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	206	T-box.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)								300				0.523256	129.772763	129.813096	45	41	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0267)	Silent	SNP	85523288	85523288	16179	6	C	T	T	31	31	TBX18	T	1	1
SNX14	57231	broad.mit.edu	36	6	86281054	86281054	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:86281054G>T	uc003pkr.1	-	c.2281C>A	c.(2281-2283)CTG>ATG	p.L761M	SNX14_uc003pkp.1_Missense_Mutation_p.L624M|SNX14_uc003pkq.1_Missense_Mutation_p.L367M|SNX14_uc003pks.1_Missense_Mutation_p.L708M|SNX14_uc003pkt.1_Missense_Mutation_p.L752M	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	761					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)												0.227545	76.846682	88.239219	38	129	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0423)	Missense_Mutation	SNP	86281054	86281054	15385	6	G	T	T	33	33	SNX14	T	3	3
ZNF292	23036	broad.mit.edu	36	6	88021206	88021206	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88021206T>G	uc003plm.2	+	c.1140T>G	c.(1138-1140)CCT>CCG	p.P380P		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)												0.273437	102.874327	108.791154	35	93	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0199)	Silent	SNP	88021206	88021206	18418	6	T	G	G	55	55	ZNF292	G	4	4
ZNF292	23036	broad.mit.edu	36	6	88021287	88021287	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88021287A>G	uc003plm.2	+	c.1221A>G	c.(1219-1221)GAA>GAG	p.E407E		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)												0.274725	75.838788	79.995904	25	66	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0199)	Silent	SNP	88021287	88021287	18418	6	A	G	G	1	1	ZNF292	G	4	4
ZNF292	23036	broad.mit.edu	36	6	88021352	88021352	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88021352G>A	uc003plm.2	+	c.1286G>A	c.(1285-1287)CGC>CAC	p.R429H		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)												0.309859	54.921373	57.209685	22	49	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0199)	Missense_Mutation	SNP	88021352	88021352	18418	6	G	A	A	38	38	ZNF292	A	1	1
ZNF292	23036	broad.mit.edu	36	6	88023759	88023759	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88023759G>A	uc003plm.2	+	c.3693G>A	c.(3691-3693)ATG>ATA	p.M1231I		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)												0.375	59.957741	60.727171	21	35	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0199)	Missense_Mutation	SNP	88023759	88023759	18418	6	G	A	A	47	47	ZNF292	A	2	2
GJB7	375519	broad.mit.edu	36	6	88051255	88051255	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88051255C>T	uc003plo.1	-	c.95G>A	c.(94-96)CGT>CAT	p.R32H	GJB7_uc010kbu.1_Missense_Mutation_p.R32H	NM_198568	NP_940970	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	32	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)												0.23622	61.487346	69.569792	30	97	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0167)	Missense_Mutation	SNP	88051255	88051255	6681	6	C	T	T	19	19	GJB7	T	1	1
SLC35A1	10559	broad.mit.edu	36	6	88267097	88267097	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88267097T>C	uc003pma.1	+	c.347T>C	c.(346-348)GTG>GCG	p.V116A	SLC35A1_uc003plx.1_Non-coding_Transcript|SLC35A1_uc010kbw.1_5'UTR|SLC35A1_uc010kbx.1_Missense_Mutation_p.V116A|SLC35A1_uc010kby.1_Non-coding_Transcript|SLC35A1_uc003plz.1_Intron|SLC35A1_uc003ply.1_Non-coding_Transcript	NM_006416	NP_006407	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid	116	Helical; (Potential).				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity				0		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)				NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)								0.285714	82.461462	87.072257	32	80	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0429)	Missense_Mutation	SNP	88267097	88267097	15067	6	T	C	C	59	59	SLC35A1	C	4	4
RARS2	57038	broad.mit.edu	36	6	88287938	88287938	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88287938C>T	uc003pme.1	-	c.998G>A	c.(997-999)CGA>CAA	p.R333Q	RARS2_uc003pmb.1_Missense_Mutation_p.R158Q|RARS2_uc003pmc.1_Missense_Mutation_p.R158Q|RARS2_uc003pmd.1_5'UTR|RARS2_uc003pmf.1_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	333					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)												0.597701	150.907133	151.633803	52	35	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0456)	Missense_Mutation	SNP	88287938	88287938	13519	6	C	T	T	31	31	RARS2	T	1	1
SPACA1	81833	broad.mit.edu	36	6	88825221	88825221	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88825221C>T	uc003pmn.1	+	c.436C>T	c.(436-438)CGT>TGT	p.R146C		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	146	Extracellular (Potential).					integral to membrane					0		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)												0.395062	88.583777	89.363874	32	49	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.11)	Missense_Mutation	SNP	88825221	88825221	15473	6	C	T	T	31	31	SPACA1	T	1	1
SPACA1	81833	broad.mit.edu	36	6	88832674	88832674	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88832674G>A	uc003pmn.1	+	c.787G>A	c.(787-789)GAG>AAG	p.E263K		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	263	Cytoplasmic (Potential).					integral to membrane					0		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)												0.301676	135.875593	142.166326	54	125	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.11)	Missense_Mutation	SNP	88832674	88832674	15473	6	G	A	A	37	37	SPACA1	A	1	1
CNR1	1268	broad.mit.edu	36	6	88910842	88910842	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88910842C>T	uc003pmp.1	-	c.871G>A	c.(871-873)GTG>ATG	p.V291M	CNR1_uc003pmo.1_Missense_Mutation_p.V230M|CNR1_uc010kbz.1_Missense_Mutation_p.V291M|CNR1_uc003pmq.2_Missense_Mutation_p.V291M|CNR1_uc010kca.1_Missense_Mutation_p.V258M	NM_016083	NP_057167	P21554	CNR1_HUMAN	central cannabinoid receptor isoform a	291	Helical; Name=5; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding				0		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)			Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)									0.245098	54.82403	60.863243	25	77	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.15)	Missense_Mutation	SNP	88910842	88910842	3769	6	C	T	T	19	19	CNR1	T	1	1
RNGTT	8732	broad.mit.edu	36	6	89380802	89380802	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:89380802T>A	uc003pmr.2	-	c.1538A>T	c.(1537-1539)AAA>ATA	p.K513I	RNGTT_uc003pms.2_Missense_Mutation_p.K490I	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	513	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)												0.300885	80.298118	84.305141	34	79	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.151)	Missense_Mutation	SNP	89380802	89380802	13982	6	T	A	A	64	64	RNGTT	A	4	4
UBE2J1	51465	broad.mit.edu	36	6	90110174	90110174	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90110174C>A	uc010kcb.1	-	c.52G>T	c.(52-54)GAA>TAA	p.E18*	UBE2J1_uc003pnc.1_Nonsense_Mutation_p.E18*	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	18	Cytoplasmic (Potential).				post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)												0.204301	36.565568	44.119934	19	74	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0139)	Nonsense_Mutation	SNP	90110174	90110174	17417	6	C	A	A	32	32	UBE2J1	A	5	3
RRAGD	58528	broad.mit.edu	36	6	90145777	90145777	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90145777C>A	uc003pnd.2	-	c.645_splice	c.e4-1	p.S215_splice	RRAGD_uc010kcc.1_Splice_Site_SNP_p.S64_splice	NM_021244	NP_067067			Ras-related GTP binding D						cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)												0.186047	14.070545	18.047413	8	35	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0144)	Splice_Site_SNP	SNP	90145777	90145777	14155	6	C	A	A	28	28	RRAGD	A	5	3
RRAGD	58528	broad.mit.edu	36	6	90146728	90146728	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90146728G>A	uc003pnd.2	-	c.522C>T	c.(520-522)TTC>TTT	p.F174F	RRAGD_uc010kcc.1_Silent_p.F23F	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	174					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)												0.25	105.423024	116.114427	47	141	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0144)	Silent	SNP	90146728	90146728	14155	6	G	A	A	37	37	RRAGD	A	1	1
MDN1	23195	broad.mit.edu	36	6	90424706	90424706	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90424706C>A	uc003pnn.1	-	c.15126G>T	c.(15124-15126)CAG>CAT	p.Q5042H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5042					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)												0.283186	143.678797	153.241716	64	162	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0193)	Missense_Mutation	SNP	90424706	90424706	9804	6	C	A	A	32	32	MDN1	A	3	3
MDN1	23195	broad.mit.edu	36	6	90442608	90442608	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90442608C>A	uc003pnn.1	-	c.12579G>T	c.(12577-12579)CAG>CAT	p.Q4193H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4193					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)												0.270115	106.031195	114.339744	47	127	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0193)	Missense_Mutation	SNP	90442608	90442608	9804	6	C	A	A	32	32	MDN1	A	3	3
MDN1	23195	broad.mit.edu	36	6	90462845	90462845	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90462845G>A	uc003pnn.1	-	c.9338C>T	c.(9337-9339)TCG>TTG	p.S3113L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3113					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)												0.300752	99.258015	103.969583	40	93	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0193)	Missense_Mutation	SNP	90462845	90462845	9804	6	G	A	A	37	37	MDN1	A	1	1
MDN1	23195	broad.mit.edu	36	6	90474942	90474942	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90474942G>A	uc003pnn.1	-	c.7892C>T	c.(7891-7893)GCA>GTA	p.A2631V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2631					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)												0.286325	145.505016	155.185617	67	167	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0193)	Missense_Mutation	SNP	90474942	90474942	9804	6	G	A	A	46	46	MDN1	A	2	2
MDN1	23195	broad.mit.edu	36	6	90560355	90560355	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90560355G>T	uc003pnn.1	-	c.702C>A	c.(700-702)GCC>GCA	p.A234A	MDN1_uc003pnp.1_Silent_p.A234A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	234					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)												0.56962	127.671496	128.003235	45	34	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0193)	Silent	SNP	90560355	90560355	9804	6	G	T	T	35	35	MDN1	T	3	3
CASP8AP2	9994	broad.mit.edu	36	6	90630250	90630250	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90630250C>A	uc003pnt.1	+	c.2101C>A	c.(2101-2103)CAA>AAA	p.Q701K	CASP8AP2_uc003pnq.1_Missense_Mutation_p.Q701K|CASP8AP2_uc003pnr.1_Missense_Mutation_p.Q701K|CASP8AP2_uc003pns.1_Intron	NM_012115	NP_036247	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	701					activation of caspase activity|cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)				Colon(187;1656 2025 17045 31481 39901)								0.303571	45.252377	47.181542	17	39	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0953)	Missense_Mutation	SNP	90630250	90630250	2797	6	C	A	A	17	17	CASP8AP2	A	3	3
CASP8AP2	9994	broad.mit.edu	36	6	90633995	90633995	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90633995T>C	uc003pnt.1	+	c.4265T>C	c.(4264-4266)GTG>GCG	p.V1422A	CASP8AP2_uc003pnr.1_Missense_Mutation_p.V1422A|CASP8AP2_uc003pns.1_Intron	NM_012115	NP_036247	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1422					activation of caspase activity|cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)				Colon(187;1656 2025 17045 31481 39901)								0.295858	136.58918	142.886325	50	119	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0953)	Missense_Mutation	SNP	90633995	90633995	2797	6	T	C	C	59	59	CASP8AP2	C	4	4
CASP8AP2	9994	broad.mit.edu	36	6	90634366	90634366	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90634366C>T	uc003pnt.1	+	c.4636C>T	c.(4636-4638)CGA>TGA	p.R1546*	CASP8AP2_uc003pnr.1_Nonsense_Mutation_p.R1546*|CASP8AP2_uc003pns.1_Intron	NM_012115	NP_036247	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1546					activation of caspase activity|cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)				Colon(187;1656 2025 17045 31481 39901)								0.206061	66.136704	79.385748	34	131	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0953)	Nonsense_Mutation	SNP	90634366	90634366	2797	6	C	T	T	19	19	CASP8AP2	T	5	1
GJA10	84694	broad.mit.edu	36	6	90662408	90662408	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90662408C>A	uc003pnu.1	+	c.1500C>A	c.(1498-1500)TGC>TGA	p.C500*		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	500	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)												0.307692	127.730146	133.305925	52	117	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0915)	Nonsense_Mutation	SNP	90662408	90662408	6669	6	C	A	A	28	28	GJA10	A	5	3
MAP3K7	6885	broad.mit.edu	36	6	91322997	91322997	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:91322997T>C	uc003pnz.1	-	c.550A>G	c.(550-552)ACA>GCA	p.T184A	MAP3K7_uc003poa.1_Missense_Mutation_p.T184A|MAP3K7_uc003pob.1_Missense_Mutation_p.T184A|MAP3K7_uc003poc.1_Missense_Mutation_p.T184A	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	184	Protein kinase.				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 activation|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)|upper_aerodigestive_tract(1)	3		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)								329				0.27027	176.511237	187.074127	60	162	TT		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	91322997	91322997	9638	6	T	C	C	58	58	MAP3K7	C	4	4
EPHA7	2045	broad.mit.edu	36	6	94021202	94021202	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:94021202C>T	uc003poe.1	-	c.2416G>A	c.(2416-2418)GAA>AAA	p.E806K	EPHA7_uc003pof.1_Missense_Mutation_p.E801K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7	806	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(7)|lung(6)|central_nervous_system(3)|large_intestine(2)|skin(2)|pancreas(1)	21		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)								635				0.295238	76.383075	80.322491	31	74	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0847)	Missense_Mutation	SNP	94021202	94021202	5365	6	C	T	T	31	31	EPHA7	T	1	1
GPR63	81491	broad.mit.edu	36	6	97353090	97353090	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:97353090C>T	uc003pou.1	-	c.1239G>A	c.(1237-1239)GGG>GGA	p.G413G	GPR63_uc010kcl.1_Silent_p.G413G	NM_030784	NP_110411	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	413	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)	1		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)												0.560976	150.756924	151.021908	46	36	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0912)	Silent	SNP	97353090	97353090	6979	6	C	T	T	22	22	GPR63	T	2	2
KLHL32	114792	broad.mit.edu	36	6	97639899	97639899	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:97639899C>T	uc010kcm.1	+	c.588C>T	c.(586-588)AGC>AGT	p.S196S	KLHL32_uc003poy.2_Silent_p.S196S|KLHL32_uc003poz.2_Intron|KLHL32_uc003ppa.2_Non-coding_Transcript	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	196										ovary(3)	3		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)												0.268657	83.563846	90.02356	36	98	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0558)	Silent	SNP	97639899	97639899	8699	6	C	T	T	27	27	KLHL32	T	1	1
KLHL32	114792	broad.mit.edu	36	6	97682017	97682017	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:97682017G>A	uc010kcm.1	+	c.1371G>A	c.(1369-1371)ACG>ACA	p.T457T	KLHL32_uc003poz.2_Silent_p.T13T|KLHL32_uc003ppa.2_Non-coding_Transcript	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	457	Kelch 4.									ovary(3)	3		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)												0.277154	198.345994	210.27193	74	193	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0558)	Silent	SNP	97682017	97682017	8699	6	G	A	A	39	39	KLHL32	A	1	1
C6orf167	253714	broad.mit.edu	36	6	97809195	97809195	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:97809195A>T	uc003ppb.1	-	c.1078T>A	c.(1078-1080)TCA>ACA	p.S360T	C6orf167_uc010kcn.1_Missense_Mutation_p.S134T|C6orf167_uc010kco.1_Missense_Mutation_p.S96T|C6orf167_uc003ppc.1_Missense_Mutation_p.S360T	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	360					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)												0.217822	46.601705	54.012478	22	79	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0457)	Missense_Mutation	SNP	97809195	97809195	2447	6	A	T	T	12	12	C6orf167	T	4	4
FBXL4	26235	broad.mit.edu	36	6	99428982	99428982	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:99428982G>T	uc003ppf.1	-	c.1759C>A	c.(1759-1761)CTT>ATT	p.L587I	FBXL4_uc003ppg.1_Missense_Mutation_p.L587I|FBXL4_uc003pph.1_Missense_Mutation_p.L189I	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	587	LRR 9.				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)												0.273504	144.777697	155.609949	64	170	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0413)	Missense_Mutation	SNP	99428982	99428982	5958	6	G	T	T	33	33	FBXL4	T	3	3
FBXL4	26235	broad.mit.edu	36	6	99472248	99472248	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:99472248C>T	uc003ppf.1	-	c.581G>A	c.(580-582)TGT>TAT	p.C194Y	FBXL4_uc003ppg.1_Missense_Mutation_p.C194Y|FBXL4_uc003pph.1_Intron	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	194					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)												0.19598	73.395284	90.555384	39	160	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0413)	Missense_Mutation	SNP	99472248	99472248	5958	6	C	T	T	17	17	FBXL4	T	2	2
C6orf168	84553	broad.mit.edu	36	6	99835965	99835965	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:99835965G>T	uc003ppj.2	-	c.1026C>A	c.(1024-1026)ATC>ATA	p.I342I	C6orf168_uc003ppi.2_Silent_p.I62I	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	342										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)												0.306569	100.083782	104.663563	42	95	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.073)	Silent	SNP	99835965	99835965	2448	6	G	T	T	33	33	C6orf168	T	3	3
SFRS18	25957	broad.mit.edu	36	6	99955452	99955452	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:99955452A>C	uc003ppo.2	-	c.2103T>G	c.(2101-2103)GAT>GAG	p.D701E	SFRS18_uc003ppl.1_5'Flank|SFRS18_uc003ppp.2_Missense_Mutation_p.D701E|SFRS18_uc003ppq.2_Missense_Mutation_p.D701E	NM_032870	NP_116259	Q8TF01	SFR18_HUMAN	splicing factor, arginine/serine-rich 130	701	Potential.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)												0.306667	71.80167	74.298577	23	52	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0631)	Missense_Mutation	SNP	99955452	99955452	14664	6	A	C	C	4	4	SFRS18	C	4	4
LRCH4	4034	broad.mit.edu	36	7	100010732	100010732	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100010732G>A	uc003uvj.1	-	c.1986C>T	c.(1984-1986)TTC>TTT	p.F662F	LRCH4_uc010lgz.1_Non-coding_Transcript|LRCH4_uc003uvi.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	662					nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.16	12.765821	18.272896	8	42	GG		KEEP	---	---	---	---	capture			Silent	SNP	100010732	100010732	9308	7	G	A	A	37	37	LRCH4	A	1	1
LRCH4	4034	broad.mit.edu	36	7	100013789	100013789	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100013789G>A	uc003uvj.1	-	c.877C>T	c.(877-879)CGG>TGG	p.R293W	LRCH4_uc010lgz.1_Non-coding_Transcript|LRCH4_uc003uvi.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	293					nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.21875	44.427336	51.423049	21	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100013789	100013789	9308	7	G	A	A	37	37	LRCH4	A	1	1
FBXO24	26261	broad.mit.edu	36	7	100028494	100028494	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100028494G>T	uc003uvm.1	+	c.711G>T	c.(709-711)AAG>AAT	p.K237N	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.K223N|FBXO24_uc003uvn.1_Intron	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	237						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)													0.387597	123.365325	124.809665	50	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100028494	100028494	5972	7	G	T	T	33	33	FBXO24	T	3	3
FBXO24	26261	broad.mit.edu	36	7	100035651	100035651	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100035651G>T	uc003uvm.1	+	c.1268G>T	c.(1267-1269)AGC>ATC	p.S423I	FBXO24_uc003uvn.1_Intron|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	423	RCC1.					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)													0.171429	10.926769	14.500434	6	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100035651	100035651	5972	7	G	T	T	34	34	FBXO24	T	3	3
MOSPD3	64598	broad.mit.edu	36	7	100048552	100048552	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100048552C>T	uc003uvq.1	+	c.202C>T	c.(202-204)CGA>TGA	p.R68*	MOSPD3_uc003uvr.1_Nonsense_Mutation_p.R68*|MOSPD3_uc003uvs.1_Nonsense_Mutation_p.R68*|MOSPD3_uc003uvt.1_Nonsense_Mutation_p.R68*	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	motile sperm domain containing 3 isoform a	68	MSP.					integral to membrane	structural molecule activity			ovary(2)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)													0.453287	383.358262	383.895491	131	158	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	100048552	100048552	10109	7	C	T	T	23	23	MOSPD3	T	5	1
TFR2	7036	broad.mit.edu	36	7	100063665	100063665	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100063665C>T	uc003uvv.1	-	c.1504G>A	c.(1504-1506)GTA>ATA	p.V502I	TFR2_uc010lhc.1_Missense_Mutation_p.V43I|TFR2_uc003uvu.1_Missense_Mutation_p.V331I	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	502	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)									219				0.261905	73.521473	79.983831	33	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100063665	100063665	16339	7	C	T	T	19	19	TFR2	T	1	1
ZAN	7455	broad.mit.edu	36	7	100186234	100186234	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100186234T>C	uc003uwj.1	+	c.1300T>C	c.(1300-1302)TCA>CCA	p.S434P	ZAN_uc003uwk.1_Missense_Mutation_p.S434P|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	434	MAM 3.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.129032	14.669748	22.966131	8	54	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Missense_Mutation	SNP	100186234	100186234	18096	7	T	C	C	58	58	ZAN	C	4	4
ZAN	7455	broad.mit.edu	36	7	100186395	100186395	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100186395G>A	uc003uwj.1	+	c.1461G>A	c.(1459-1461)CAG>CAA	p.Q487Q	ZAN_uc003uwk.1_Silent_p.Q487Q|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	487	MAM 3.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.412698	75.535042	75.955207	26	37	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Silent	SNP	100186395	100186395	18096	7	G	A	A	34	34	ZAN	A	2	2
ZAN	7455	broad.mit.edu	36	7	100188500	100188500	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100188500G>A	uc003uwj.1	+	c.2836G>A	c.(2836-2838)GAA>AAA	p.E946K	ZAN_uc003uwk.1_Missense_Mutation_p.E946K|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	946	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.190751	68.160476	83.640261	33	140	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Missense_Mutation	SNP	100188500	100188500	18096	7	G	A	A	33	33	ZAN	A	2	2
ZAN	7455	broad.mit.edu	36	7	100196013	100196013	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100196013G>A	uc003uwj.1	+	c.3760G>A	c.(3760-3762)GGG>AGG	p.G1254R	ZAN_uc003uwk.1_Missense_Mutation_p.G1254R|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1254	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.251121	138.752978	151.266607	56	167	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Missense_Mutation	SNP	100196013	100196013	18096	7	G	A	A	39	39	ZAN	A	1	1
ZAN	7455	broad.mit.edu	36	7	100199623	100199623	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100199623G>A	uc003uwj.1	+	c.4135G>A	c.(4135-4137)GAC>AAC	p.D1379N	ZAN_uc003uwk.1_Missense_Mutation_p.D1379N|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1379	Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.535714	214.746241	214.896112	75	65	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Missense_Mutation	SNP	100199623	100199623	18096	7	G	A	A	37	37	ZAN	A	1	1
ZAN	7455	broad.mit.edu	36	7	100202571	100202571	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100202571G>A	uc003uwj.1	+	c.4615G>A	c.(4615-4617)GCC>ACC	p.A1539T	ZAN_uc003uwk.1_Missense_Mutation_p.A1539T|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1539	Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.207627	91.150469	109.845486	49	187	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Missense_Mutation	SNP	100202571	100202571	18096	7	G	A	A	46	46	ZAN	A	2	2
ZAN	7455	broad.mit.edu	36	7	100204227	100204227	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100204227C>T	uc003uwj.1	+	c.5100C>T	c.(5098-5100)GGC>GGT	p.G1700G	ZAN_uc003uwk.1_Silent_p.G1700G|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1700	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.457143	43.793502	43.849707	16	19	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Silent	SNP	100204227	100204227	18096	7	C	T	T	27	27	ZAN	T	1	1
EPHB4	2050	broad.mit.edu	36	7	100242984	100242984	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100242984T>C	uc003uwn.1	-	c.2273A>G	c.(2272-2274)GAC>GGC	p.D758G	EPHB4_uc003uwm.1_Missense_Mutation_p.D665G|EPHB4_uc010lhj.1_Missense_Mutation_p.D758G	NM_004444	NP_004435	P54760	EPHB4_HUMAN	ephrin receptor EphB4 precursor	758	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|protein phosphorylation|regulation of angiogenesis|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(3)|stomach(2)|ovary(2)|central_nervous_system(2)|skin(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)					GBM(200;2113 3072 25865 52728)				223				0.205	93.669939	109.950902	41	159	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100242984	100242984	5370	7	T	C	C	58	58	EPHB4	C	4	4
EPHB4	2050	broad.mit.edu	36	7	100258111	100258111	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100258111G>T	uc003uwn.1	-	c.526C>A	c.(526-528)CTG>ATG	p.L176M	EPHB4_uc003uwm.1_Missense_Mutation_p.L83M|EPHB4_uc010lhj.1_Missense_Mutation_p.L176M	NM_004444	NP_004435	P54760	EPHB4_HUMAN	ephrin receptor EphB4 precursor	176	Extracellular (Potential).				cell proliferation|organ morphogenesis|protein phosphorylation|regulation of angiogenesis|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(3)|stomach(2)|ovary(2)|central_nervous_system(2)|skin(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)					GBM(200;2113 3072 25865 52728)				223				0.195652	15.872137	19.828889	9	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100258111	100258111	5370	7	G	T	T	35	35	EPHB4	T	3	3
SLC12A9	56996	broad.mit.edu	36	7	100294719	100294719	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100294719G>A	uc003uwp.1	+	c.977G>A	c.(976-978)AGG>AAG	p.R326K	SLC12A9_uc003uwq.2_Missense_Mutation_p.R237K|SLC12A9_uc003uwr.1_Missense_Mutation_p.R62K|SLC12A9_uc003uws.1_Intron|SLC12A9_uc003uwt.1_Missense_Mutation_p.R62K|SLC12A9_uc003uwu.1_5'UTR|SLC12A9_uc003uwv.1_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	326	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.185294	138.518072	170.092921	63	277	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100294719	100294719	14885	7	G	A	A	35	35	SLC12A9	A	2	2
SRRT	51593	broad.mit.edu	36	7	100311185	100311185	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100311185G>T	uc003uwy.2	+	c.38G>T	c.(37-39)AGG>ATG	p.R13M	SRRT_uc010lhl.1_Missense_Mutation_p.R13M|SRRT_uc003uxa.2_Missense_Mutation_p.R13M|SRRT_uc003uwz.2_Missense_Mutation_p.R13M|SRRT_uc003uwx.2_De_novo_Start_OutOfFrame	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	13	Arg-rich.				cell proliferation|primary microRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2														0.245902	98.19159	108.953538	45	138	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100311185	100311185	15687	7	G	T	T	35	35	SRRT	T	3	3
SRRT	51593	broad.mit.edu	36	7	100321448	100321448	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100321448G>A	uc003uwy.2	+	c.1408G>A	c.(1408-1410)GAC>AAC	p.D470N	SRRT_uc010lhl.1_Missense_Mutation_p.D469N|SRRT_uc003uxa.2_Missense_Mutation_p.D469N|SRRT_uc003uwz.2_Missense_Mutation_p.D470N|SRRT_uc003uwx.2_Missense_Mutation_p.D390N	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	470					cell proliferation|primary microRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2														0.432584	210.909195	211.599447	77	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100321448	100321448	15687	7	G	A	A	37	37	SRRT	A	1	1
UFSP1	402682	broad.mit.edu	36	7	100324790	100324790	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100324790G>T	uc003uxc.2	-	c.39C>A	c.(37-39)GAC>GAA	p.D13E		NM_001015072	NP_001015072	Q6NVU6	UFSP1_HUMAN	inactive Ufm1-specific protease 1	13											0	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.428571	44.819341	44.975092	15	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100324790	100324790	17495	7	G	T	T	36	36	UFSP1	T	3	3
ACHE	43	broad.mit.edu	36	7	100328130	100328130	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100328130G>A	uc003uxe.1	-	c.1314C>T	c.(1312-1314)GTC>GTT	p.V438V	UFSP1_uc003uxc.2_5'Flank|ACHE_uc003uxd.1_Silent_p.V438V|ACHE_uc003uxf.1_Silent_p.V438V|ACHE_uc003uxg.1_Silent_p.V438V|ACHE_uc003uxh.1_Intron|ACHE_uc003uxi.1_Silent_p.V438V	NM_015831	NP_056646	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E5 precursor	438					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|negative regulation of synaptic transmission, cholinergic|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)									0.162791	21.803815	31.095315	14	72	GG		KEEP	---	---	---	---	capture			Silent	SNP	100328130	100328130	142	7	G	A	A	37	37	ACHE	A	1	1
MUC17	140453	broad.mit.edu	36	7	100461608	100461608	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100461608C>T	uc003uxp.1	+	c.191C>T	c.(190-192)GCG>GTG	p.A64V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	64	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.238532	55.388702	62.201094	26	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100461608	100461608	10368	7	C	T	T	27	27	MUC17	T	1	1
MUC17	140453	broad.mit.edu	36	7	100462732	100462732	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100462732G>T	uc003uxp.1	+	c.1315G>T	c.(1315-1317)GAT>TAT	p.D439Y	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	439	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.192101	196.659776	246.027636	107	450	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100462732	100462732	10368	7	G	T	T	33	33	MUC17	T	3	3
MUC17	140453	broad.mit.edu	36	7	100463625	100463625	+	Missense_Mutation	SNP	T	G	G	rs71557222	unknown	TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100463625T>G	uc003uxp.1	+	c.2208T>G	c.(2206-2208)AGT>AGG	p.S736R	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	736	Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.199128	354.086073	411.962204	137	551	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100463625	100463625	10368	7	T	G	G	57	57	MUC17	G	4	4
MUC17	140453	broad.mit.edu	36	7	100464782	100464782	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100464782C>A	uc003uxp.1	+	c.3365C>A	c.(3364-3366)TCC>TAC	p.S1122Y	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	1122	Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.227536	299.170922	346.252324	157	533	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100464782	100464782	10368	7	C	A	A	30	30	MUC17	A	3	3
MUC17	140453	broad.mit.edu	36	7	100466800	100466800	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100466800G>T	uc003uxp.1	+	c.5383G>T	c.(5383-5385)GGT>TGT	p.G1795C	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	1795	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|28.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.196694	224.253945	276.153896	119	486	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100466800	100466800	10368	7	G	T	T	35	35	MUC17	T	3	3
MUC17	140453	broad.mit.edu	36	7	100468590	100468590	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100468590T>G	uc003uxp.1	+	c.7173T>G	c.(7171-7173)ACT>ACG	p.T2391T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	2391	Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.459138	934.292373	935.271694	309	364	TT		KEEP	---	---	---	---	capture			Silent	SNP	100468590	100468590	10368	7	T	G	G	56	56	MUC17	G	4	4
MUC17	140453	broad.mit.edu	36	7	100468776	100468776	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100468776A>G	uc003uxp.1	+	c.7359A>G	c.(7357-7359)GAA>GAG	p.E2453E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	2453	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|39.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.440789	1149.953189	1152.270278	335	425	AA		KEEP	---	---	---	---	capture			Silent	SNP	100468776	100468776	10368	7	A	G	G	3	3	MUC17	G	4	4
MUC17	140453	broad.mit.edu	36	7	100469988	100469988	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100469988C>T	uc003uxp.1	+	c.8571C>T	c.(8569-8571)ATC>ATT	p.I2857I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	2857	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|46.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.175793	216.212327	285.021336	122	572	CC		KEEP	---	---	---	---	capture			Silent	SNP	100469988	100469988	10368	7	C	T	T	31	31	MUC17	T	1	1
MUC17	140453	broad.mit.edu	36	7	100472189	100472189	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100472189C>A	uc003uxp.1	+	c.10772C>A	c.(10771-10773)TCT>TAT	p.S3591Y	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	3591	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.481595	421.707487	421.805545	157	169	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100472189	100472189	10368	7	C	A	A	32	32	MUC17	A	3	3
MUC17	140453	broad.mit.edu	36	7	100473032	100473032	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100473032G>T	uc003uxp.1	+	c.11615G>T	c.(11614-11616)AGA>ATA	p.R3872I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	3872	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.20712	121.192331	145.797165	64	245	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100473032	100473032	10368	7	G	T	T	33	33	MUC17	T	3	3
MUC17	140453	broad.mit.edu	36	7	100481820	100481820	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100481820G>T	uc003uxp.1	+	c.12960G>T	c.(12958-12960)ATG>ATT	p.M4320I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	4320	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.236025	79.456729	89.726487	38	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100481820	100481820	10368	7	G	T	T	47	47	MUC17	T	3	3
C7orf52	375607	broad.mit.edu	36	7	100603403	100603403	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100603403G>A	uc003uxy.1	-	c.431C>T	c.(430-432)TCG>TTG	p.S144L	C7orf52_uc003uxz.1_Missense_Mutation_p.S144L	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	144	N-acetyltransferase.						N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)													0.192308	28.318376	35.18807	15	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100603403	100603403	2508	7	G	A	A	37	37	C7orf52	A	1	1
CUX1	1523	broad.mit.edu	36	7	101534436	101534436	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101534436G>A	uc003uys.2	+	c.540G>A	c.(538-540)CAG>CAA	p.Q180Q	CUX1_uc003uyt.1_Silent_p.Q180Q|CUX1_uc003uyv.1_Silent_p.Q164Q|CUX1_uc003uyw.1_Silent_p.Q134Q|CUX1_uc003uyu.1_Silent_p.Q180Q|CUX1_uc003uyx.2_Silent_p.Q169Q	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	169	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.440329	315.567489	316.325109	107	136	GG		KEEP	---	---	---	---	capture			Silent	SNP	101534436	101534436	4224	7	G	A	A	33	33	CUX1	A	2	2
CUX1	1523	broad.mit.edu	36	7	101608637	101608637	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101608637G>A	uc003uys.2	+	c.1030G>A	c.(1030-1032)GCC>ACC	p.A344T	CUX1_uc003uyt.1_Missense_Mutation_p.A344T|CUX1_uc003uyv.1_Missense_Mutation_p.A328T|CUX1_uc003uyw.1_Missense_Mutation_p.A298T|CUX1_uc003uyu.1_Missense_Mutation_p.A342T|CUX1_uc003uyx.2_Missense_Mutation_p.A333T	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	333	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.255814	23.204461	25.532276	11	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101608637	101608637	4224	7	G	A	A	38	38	CUX1	A	1	1
CUX1	1523	broad.mit.edu	36	7	101669528	101669528	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101669528C>T	uc003uys.2	+	c.3864C>T	c.(3862-3864)CTC>CTT	p.L1288L	CUX1_uc003uyt.1_Intron|CUX1_uc003uyv.1_Intron|CUX1_uc003uyw.1_Intron|CUX1_uc003uyu.1_Intron|CUX1_uc003uyx.2_Silent_p.L1277L	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1277	Homeobox.				negative regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.223077	60.306754	69.477871	29	101	CC		KEEP	---	---	---	---	capture			Silent	SNP	101669528	101669528	4224	7	C	T	T	31	31	CUX1	T	1	1
CUX1	1523	broad.mit.edu	36	7	101712780	101712780	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101712780C>T	uc003uyt.1	+	c.1959C>T	c.(1957-1959)TGC>TGT	p.C653C	CUX1_uc003uyv.1_Silent_p.C637C|CUX1_uc003uyw.1_Silent_p.C607C|CUX1_uc003uyu.1_Silent_p.C651C|CUX1_uc003uyz.1_Non-coding_Transcript|SH2B2_uc003uza.1_5'Flank	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:Variant_position_missing_in_P39880_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.224138	27.945169	32.00219	13	45	CC		KEEP	---	---	---	---	capture			Silent	SNP	101712780	101712780	4224	7	C	T	T	27	27	CUX1	T	1	1
SH2B2	10603	broad.mit.edu	36	7	101730658	101730658	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101730658C>T	uc003uza.1	+	c.104C>T	c.(103-105)GCC>GTC	p.A35V		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	35					blood coagulation|insulin receptor signaling pathway	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0														0.22	21.890121	25.512883	11	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101730658	101730658	14719	7	C	T	T	26	26	SH2B2	T	2	2
SH2B2	10603	broad.mit.edu	36	7	101731248	101731248	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101731248G>A	uc003uza.1	+	c.694G>A	c.(694-696)GAA>AAA	p.E232K		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	232	PH.				blood coagulation|insulin receptor signaling pathway	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0														0.5	29.449329	29.449329	10	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101731248	101731248	14719	7	G	A	A	41	41	SH2B2	A	2	2
ORAI2	80228	broad.mit.edu	36	7	101874425	101874425	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101874425G>A	uc010lhz.1	+	c.686G>A	c.(685-687)CGC>CAC	p.R229H	ORAI2_uc003uzj.2_Missense_Mutation_p.R229H|ORAI2_uc003uzk.2_Missense_Mutation_p.R229H	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	229						integral to membrane	protein binding			ovary(1)|kidney(1)	2														0.1875	9.943946	12.862119	6	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101874425	101874425	11669	7	G	A	A	38	38	ORAI2	A	1	1
LRRC17	10234	broad.mit.edu	36	7	102362037	102362037	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102362037A>C	uc003vau.1	+	c.441A>C	c.(439-441)GAA>GAC	p.E147D	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.1_Missense_Mutation_p.E147D	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	147	LRR 3.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1														0.395	236.679511	238.610032	79	121	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102362037	102362037	9347	7	A	C	C	3	3	LRRC17	C	4	4
FBXL13	222235	broad.mit.edu	36	7	102391301	102391301	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102391301C>T	uc003vaq.2	-	c.639G>A	c.(637-639)GTG>GTA	p.V213V	FBXL13_uc010liq.1_Silent_p.V28V|FBXL13_uc010lir.1_Silent_p.V213V|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.V213V|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	213											0														0.19337	65.906787	81.80513	35	146	CC		KEEP	---	---	---	---	capture			Silent	SNP	102391301	102391301	5946	7	C	T	T	17	17	FBXL13	T	2	2
FBXL13	222235	broad.mit.edu	36	7	102452844	102452844	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102452844C>A	uc003vaq.2	-	c.397G>T	c.(397-399)GAA>TAA	p.E133*	FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Nonsense_Mutation_p.E133*|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Nonsense_Mutation_p.E133*|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	133											0														0.287879	44.391986	47.059201	19	47	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	102452844	102452844	5946	7	C	A	A	32	32	FBXL13	A	5	3
ARMC10	83787	broad.mit.edu	36	7	102503537	102503537	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102503537T>C	uc003vaw.1	+	c.217T>C	c.(217-219)TCA>CCA	p.S73P	FBXL13_uc003vaq.2_5'Flank|FBXL13_uc010lir.1_5'Flank|FBXL13_uc003var.2_5'Flank|FBXL13_uc003vas.2_5'Flank|FBXL13_uc003vav.2_5'Flank|ARMC10_uc003vax.1_Intron|ARMC10_uc003vay.1_Missense_Mutation_p.S73P|ARMC10_uc003vaz.1_Intron|ARMC10_uc003vba.1_Non-coding_Transcript|ARMC10_uc003vbb.1_Intron|ARMC10_uc010lis.1_Intron	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	SVH protein	73					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			ovary(1)	1														0.232558	22.729436	25.545557	10	33	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102503537	102503537	968	7	T	C	C	58	58	ARMC10	C	4	4
NAPEPLD	222236	broad.mit.edu	36	7	102547282	102547282	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102547282G>A	uc003vbc.2	-	c.919C>T	c.(919-921)CCC>TCC	p.P307S	NAPEPLD_uc003vbd.2_Missense_Mutation_p.P307S|NAPEPLD_uc003vbe.2_Non-coding_Transcript	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	307					phospholipid catabolic process	membrane	metal ion binding				0														0.458333	225.663213	225.91602	77	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102547282	102547282	10559	7	G	A	A	41	41	NAPEPLD	A	2	2
PMPCB	9512	broad.mit.edu	36	7	102735322	102735322	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102735322C>T	uc003vbk.1	+	c.780C>T	c.(778-780)TTC>TTT	p.F260F	PMPCB_uc010liu.1_Silent_p.F260F|PMPCB_uc003vbl.1_Silent_p.F260F|PMPCB_uc003vbm.1_Silent_p.F169F|PMPCB_uc010liv.1_Silent_p.F166F|PMPCB_uc010liw.1_Silent_p.F169F	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	260					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4														0.22	70.989757	81.824766	33	117	CC		KEEP	---	---	---	---	capture			Silent	SNP	102735322	102735322	12567	7	C	T	T	31	31	PMPCB	T	1	1
PMPCB	9512	broad.mit.edu	36	7	102736638	102736638	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102736638C>T	uc003vbk.1	+	c.853C>T	c.(853-855)CGT>TGT	p.R285C	PMPCB_uc010liu.1_Missense_Mutation_p.R285C|PMPCB_uc003vbl.1_Missense_Mutation_p.R285C|PMPCB_uc003vbm.1_Missense_Mutation_p.R194C|PMPCB_uc010liv.1_Missense_Mutation_p.R191C|PMPCB_uc010liw.1_Missense_Mutation_p.R194C	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	285					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4														0.45679	317.197185	317.591748	111	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102736638	102736638	12567	7	C	T	T	31	31	PMPCB	T	1	1
DNAJC2	27000	broad.mit.edu	36	7	102744543	102744543	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102744543A>G	uc003vbo.1	-	c.1397T>C	c.(1396-1398)GTG>GCG	p.V466A	DNAJC2_uc003vbn.1_Missense_Mutation_p.V91A|DNAJC2_uc010lix.1_Missense_Mutation_p.V413A|DNAJC2_uc003vbp.1_Missense_Mutation_p.V91A	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	466	SANT 1.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1														0.198238	96.951218	116.192127	45	182	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102744543	102744543	4822	7	A	G	G	6	6	DNAJC2	G	4	4
DNAJC2	27000	broad.mit.edu	36	7	102751324	102751324	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102751324C>A	uc003vbo.1	-	c.676G>T	c.(676-678)GAA>TAA	p.E226*	DNAJC2_uc003vbn.1_5'UTR|DNAJC2_uc010lix.1_Nonsense_Mutation_p.E226*|DNAJC2_uc003vbp.1_Intron|DNAJC2_uc003vbq.1_Non-coding_Transcript	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	226	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1														0.263158	10.964107	11.929856	5	14	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	102751324	102751324	4822	7	C	A	A	32	32	DNAJC2	A	5	3
DNAJC2	27000	broad.mit.edu	36	7	102769608	102769608	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102769608C>A	uc003vbo.1	-	c.94G>T	c.(94-96)GGA>TGA	p.G32*	DNAJC2_uc003vbn.1_5'UTR|DNAJC2_uc010lix.1_Nonsense_Mutation_p.G32*|DNAJC2_uc003vbp.1_Intron|DNAJC2_uc003vbq.1_Non-coding_Transcript|DNAJC2_uc003vbr.1_Nonsense_Mutation_p.G32*	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	32					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1														0.193548	68.388618	84.697994	36	150	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	102769608	102769608	4822	7	C	A	A	22	22	DNAJC2	A	5	3
SLC26A5	375611	broad.mit.edu	36	7	102819342	102819342	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102819342C>T	uc003vbz.1	-	c.1196G>A	c.(1195-1197)CGA>CAA	p.R399Q	SLC26A5_uc003vbt.1_Missense_Mutation_p.R399Q|SLC26A5_uc003vbu.1_Missense_Mutation_p.R399Q|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.1_Non-coding_Transcript|SLC26A5_uc003vbx.1_Missense_Mutation_p.R399Q|SLC26A5_uc003vby.1_Non-coding_Transcript|SLC26A5_uc010liy.1_Non-coding_Transcript	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	399	Extracellular (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	motor activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1														0.367089	76.736987	77.970256	29	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102819342	102819342	15017	7	C	T	T	31	31	SLC26A5	T	1	1
RELN	5649	broad.mit.edu	36	7	102900520	102900520	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102900520C>T	uc003vca.1	-	c.10358G>A	c.(10357-10359)CGA>CAA	p.R3453Q	RELN_uc010liz.1_Missense_Mutation_p.R3451Q	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3453	Arg-rich (basic).				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.398936	205.674407	207.356734	75	113	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Missense_Mutation	SNP	102900520	102900520	13689	7	C	T	T	31	31	RELN	T	1	1
RELN	5649	broad.mit.edu	36	7	102914074	102914074	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102914074G>A	uc003vca.1	-	c.9789C>T	c.(9787-9789)CAC>CAT	p.H3263H	RELN_uc010liz.1_Silent_p.H3263H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3263					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.246154	70.031783	77.663459	32	98	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Silent	SNP	102914074	102914074	13689	7	G	A	A	40	40	RELN	A	1	1
RELN	5649	broad.mit.edu	36	7	102923439	102923439	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102923439G>A	uc003vca.1	-	c.9336C>T	c.(9334-9336)CTC>CTT	p.L3112L	RELN_uc010liz.1_Silent_p.L3112L	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3112					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.218487	164.033599	190.129477	78	279	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Silent	SNP	102923439	102923439	13689	7	G	A	A	45	45	RELN	A	2	2
RELN	5649	broad.mit.edu	36	7	102924367	102924367	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102924367G>A	uc003vca.1	-	c.9035C>T	c.(9034-9036)GCC>GTC	p.A3012V	RELN_uc010liz.1_Missense_Mutation_p.A3012V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3012					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.370861	151.25814	153.471462	56	95	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Missense_Mutation	SNP	102924367	102924367	13689	7	G	A	A	42	42	RELN	A	2	2
RELN	5649	broad.mit.edu	36	7	102938665	102938665	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102938665C>A	uc003vca.1	-	c.8143G>T	c.(8143-8145)GAT>TAT	p.D2715Y	RELN_uc010liz.1_Missense_Mutation_p.D2715Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2715					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.242424	53.952339	59.941663	24	75	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Missense_Mutation	SNP	102938665	102938665	13689	7	C	A	A	29	29	RELN	A	3	3
RELN	5649	broad.mit.edu	36	7	102947146	102947146	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102947146G>A	uc003vca.1	-	c.7722C>T	c.(7720-7722)TTC>TTT	p.F2574F	RELN_uc010liz.1_Silent_p.F2574F	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2574					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.169591	49.257287	66.93886	29	142	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Silent	SNP	102947146	102947146	13689	7	G	A	A	45	45	RELN	A	2	2
RELN	5649	broad.mit.edu	36	7	102949852	102949852	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102949852A>G	uc003vca.1	-	c.7521T>C	c.(7519-7521)TGT>TGC	p.C2507C	RELN_uc010liz.1_Silent_p.C2507C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2507	EGF-like 6.				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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.181818	45.575095	57.096105	22	99	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Silent	SNP	102949852	102949852	13689	7	A	G	G	6	6	RELN	G	4	4
RELN	5649	broad.mit.edu	36	7	103001825	103001825	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:103001825G>A	uc003vca.1	-	c.4461C>T	c.(4459-4461)GGC>GGT	p.G1487G	RELN_uc010liz.1_Silent_p.G1487G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1487					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.208651	169.155354	199.969155	82	311	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Silent	SNP	103001825	103001825	13689	7	G	A	A	42	42	RELN	A	2	2
RELN	5649	broad.mit.edu	36	7	103017325	103017325	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:103017325C>T	uc003vca.1	-	c.4099G>A	c.(4099-4101)GAA>AAA	p.E1367K	RELN_uc010liz.1_Missense_Mutation_p.E1367K	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1367					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.428205	498.094301	499.860089	167	223	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Missense_Mutation	SNP	103017325	103017325	13689	7	C	T	T	32	32	RELN	T	2	2
RELN	5649	broad.mit.edu	36	7	103021465	103021465	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:103021465G>A	uc003vca.1	-	c.3812C>T	c.(3811-3813)GCT>GTT	p.A1271V	RELN_uc010liz.1_Missense_Mutation_p.A1271V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1271					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.220408	118.731233	136.358836	54	191	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Missense_Mutation	SNP	103021465	103021465	13689	7	G	A	A	34	34	RELN	A	2	2
RELN	5649	broad.mit.edu	36	7	103064040	103064040	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:103064040G>T	uc003vca.1	-	c.2181C>A	c.(2179-2181)TAC>TAA	p.Y727*	RELN_uc010liz.1_Nonsense_Mutation_p.Y727*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	727					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.495652	171.813033	171.814216	57	58	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Nonsense_Mutation	SNP	103064040	103064040	13689	7	G	T	T	36	36	RELN	T	5	3
RELN	5649	broad.mit.edu	36	7	103109904	103109904	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:103109904C>T	uc003vca.1	-	c.1184G>A	c.(1183-1185)GGA>GAA	p.G395E	RELN_uc010liz.1_Missense_Mutation_p.G395E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	395					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.21875	110.060897	126.384173	49	175	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Missense_Mutation	SNP	103109904	103109904	13689	7	C	T	T	30	30	RELN	T	2	2
MLL5	55904	broad.mit.edu	36	7	104535278	104535278	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104535278G>A	uc003vcm.1	+	c.3138G>A	c.(3136-3138)AGG>AGA	p.R1046R	MLL5_uc010ljc.1_Silent_p.R1046R|MLL5_uc010lje.1_Non-coding_Transcript|MLL5_uc010ljf.1_Non-coding_Transcript|MLL5_uc010ljg.1_5'UTR|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1046					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.347518	135.522608	138.420704	49	92	GG		KEEP	---	---	---	---	capture			Silent	SNP	104535278	104535278	10014	7	G	A	A	43	43	MLL5	A	2	2
MLL5	55904	broad.mit.edu	36	7	104536767	104536767	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104536767A>G	uc003vcm.1	+	c.3611A>G	c.(3610-3612)GAC>GGC	p.D1204G	MLL5_uc010ljc.1_Missense_Mutation_p.D1204G|MLL5_uc010lje.1_Non-coding_Transcript|MLL5_uc010ljf.1_Non-coding_Transcript|MLL5_uc010ljg.1_Missense_Mutation_p.T10A|MLL5_uc010ljh.1_Missense_Mutation_p.T10A	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1204					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.138889	52.136413	79.344122	30	186	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104536767	104536767	10014	7	A	G	G	10	10	MLL5	G	4	4
MLL5	55904	broad.mit.edu	36	7	104540540	104540540	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104540540C>A	uc003vcm.1	+	c.5101C>A	c.(5101-5103)CAA>AAA	p.Q1701K	MLL5_uc010ljc.1_Missense_Mutation_p.Q1701K|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.1_Missense_Mutation_p.Q435K	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1701	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.159292	28.473107	40.976797	18	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104540540	104540540	10014	7	C	A	A	21	21	MLL5	A	3	3
SRPK2	6733	broad.mit.edu	36	7	104545582	104545582	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104545582A>G	uc003vcv.1	-	c.2039T>C	c.(2038-2040)ATG>ACG	p.M680T	SRPK2_uc003vct.1_Missense_Mutation_p.M669T|SRPK2_uc003vcu.1_Missense_Mutation_p.M669T|SRPK2_uc003vcs.1_Non-coding_Transcript	NM_182692	NP_872634	P78362	SRPK2_HUMAN	SFRS protein kinase 2 isoform a	669	Protein kinase.				angiogenesis|cell differentiation|innate immune response|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|protein phosphorylation|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)	5										326				0.457516	203.743381	203.981537	70	83	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104545582	104545582	15674	7	A	G	G	8	8	SRPK2	G	4	4
SRPK2	6733	broad.mit.edu	36	7	104631440	104631440	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104631440C>T	uc003vcv.1	-	c.100G>A	c.(100-102)GTT>ATT	p.V34I	SRPK2_uc003vct.1_Missense_Mutation_p.V23I|SRPK2_uc003vcu.1_Missense_Mutation_p.V23I|SRPK2_uc003vcw.1_Missense_Mutation_p.V23I	NM_182692	NP_872634	P78362	SRPK2_HUMAN	SFRS protein kinase 2 isoform a	23					angiogenesis|cell differentiation|innate immune response|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|protein phosphorylation|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)	5										326				0.432432	47.892319	48.039973	16	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104631440	104631440	15674	7	C	T	T	20	20	SRPK2	T	2	2
PUS7	54517	broad.mit.edu	36	7	104930131	104930131	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104930131G>A	uc010lji.1	-	c.702C>T	c.(700-702)TAC>TAT	p.Y234Y	PUS7_uc003vcx.1_Silent_p.Y234Y|PUS7_uc003vcy.1_Silent_p.Y234Y|PUS7_uc003vcz.1_Silent_p.Y234Y	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	234					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						Colon(138;2387 3051 17860)								0.461774	432.969852	433.387519	151	176	GG		KEEP	---	---	---	---	capture			Silent	SNP	104930131	104930131	13291	7	G	A	A	44	44	PUS7	A	2	2
PUS7	54517	broad.mit.edu	36	7	104933641	104933641	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104933641A>G	uc010lji.1	-	c.582T>C	c.(580-582)ATT>ATC	p.I194I	PUS7_uc003vcx.1_Silent_p.I194I|PUS7_uc003vcy.1_Silent_p.I194I|PUS7_uc003vcz.1_Silent_p.I194I	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	194					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						Colon(138;2387 3051 17860)								0.448649	502.713061	503.560866	166	204	AA		KEEP	---	---	---	---	capture			Silent	SNP	104933641	104933641	13291	7	A	G	G	5	5	PUS7	G	4	4
RINT1	60561	broad.mit.edu	36	7	104993013	104993013	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104993013C>T	uc003vda.1	+	c.1940C>T	c.(1939-1941)TCG>TTG	p.S647L	RINT1_uc010ljj.1_Missense_Mutation_p.S222L|EFCAB10_uc003vdb.1_3'UTR	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	647	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4														0.197674	64.442773	79.097342	34	138	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104993013	104993013	13853	7	C	T	T	31	31	RINT1	T	1	1
CDHR3	222256	broad.mit.edu	36	7	105411936	105411936	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:105411936G>A	uc003vdl.2	+	c.478G>A	c.(478-480)GAT>AAT	p.D160N	CDHR3_uc003vdk.1_5'UTR|CDHR3_uc003vdm.2_Missense_Mutation_p.D147N	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256	160	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.136364	7.820012	13.454948	6	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105411936	105411936	3249	7	G	A	A	37	37	CDHR3	A	1	1
NAMPT	10135	broad.mit.edu	36	7	105682162	105682162	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:105682162T>A	uc003vdq.1	-	c.1114A>T	c.(1114-1116)ATG>TTG	p.M372L		NM_005746	NP_005737	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	372					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			large_intestine(1)	1														0.438889	226.59536	227.181466	79	101	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105682162	105682162	10545	7	T	A	A	52	52	NAMPT	A	4	4
NAMPT	10135	broad.mit.edu	36	7	105700268	105700268	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:105700268G>T	uc003vdq.1	-	c.391C>A	c.(391-393)CTC>ATC	p.L131I	NAMPT_uc003vdr.1_Missense_Mutation_p.L131I	NM_005746	NP_005737	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	131					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			large_intestine(1)	1														0.179191	53.509887	70.276347	31	142	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105700268	105700268	10545	7	G	T	T	33	33	NAMPT	T	3	3
PIK3CG	5294	broad.mit.edu	36	7	106296512	106296512	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106296512C>T	uc003vdv.2	+	c.1270C>T	c.(1270-1272)CCC>TCC	p.P424S	PIK3CG_uc003vdu.1_Missense_Mutation_p.P424S|PIK3CG_uc003vdw.1_Missense_Mutation_p.P424S	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	424					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			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.462857	224.249645	224.460087	81	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106296512	106296512	12340	7	C	T	T	26	26	PIK3CG	T	2	2
PIK3CG	5294	broad.mit.edu	36	7	106296953	106296953	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106296953G>T	uc003vdv.2	+	c.1711G>T	c.(1711-1713)GAC>TAC	p.D571Y	PIK3CG_uc003vdu.1_Missense_Mutation_p.D571Y|PIK3CG_uc003vdw.1_Missense_Mutation_p.D571Y	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	571					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			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.174699	46.358788	62.951447	29	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106296953	106296953	12340	7	G	T	T	41	41	PIK3CG	T	3	3
PIK3CG	5294	broad.mit.edu	36	7	106300471	106300471	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106300471C>T	uc003vdv.2	+	c.2139C>T	c.(2137-2139)TTC>TTT	p.F713F	PIK3CG_uc003vdu.1_Silent_p.F713F|PIK3CG_uc003vdw.1_Silent_p.F713F	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	713					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			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.284916	120.546186	127.98351	51	128	CC		KEEP	---	---	---	---	capture			Silent	SNP	106300471	106300471	12340	7	C	T	T	31	31	PIK3CG	T	1	1
PIK3CG	5294	broad.mit.edu	36	7	106313864	106313864	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106313864G>A	uc003vdv.2	+	c.2921G>A	c.(2920-2922)AGT>AAT	p.S974N	PIK3CG_uc003vdu.1_Missense_Mutation_p.S974N|PIK3CG_uc003vdw.1_Missense_Mutation_p.S974N	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	974	PI3K/PI4K.				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			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.293413	126.419735	132.793952	49	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106313864	106313864	12340	7	G	A	A	36	36	PIK3CG	A	2	2
GPR146	115330	broad.mit.edu	36	7	1063985	1063985	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:1063985T>C	uc003sjw.1	+	c.308T>C	c.(307-309)GTG>GCG	p.V103A	C7orf50_uc003sjt.1_Intron|C7orf50_uc003sju.1_Intron|GPR146_uc003sjx.2_Missense_Mutation_p.V103A|GPR146_uc003sjy.1_Missense_Mutation_p.V103A	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	103	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)												0.421488	151.798235	152.449424	51	70	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	Missense_Mutation	SNP	1063985	1063985	6927	7	T	C	C	59	59	GPR146	C	4	4
PRKAR2B	5577	broad.mit.edu	36	7	106497977	106497977	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106497977G>A	uc003vdx.1	+	c.323G>A	c.(322-324)CGA>CAA	p.R108Q		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	108	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1														0.49162	255.873241	255.884549	88	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106497977	106497977	12949	7	G	A	A	37	37	PRKAR2B	A	1	1
HBP1	26959	broad.mit.edu	36	7	106613618	106613618	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106613618G>A	uc003vdy.1	+	c.535G>A	c.(535-537)GAA>AAA	p.E179K	HBP1_uc003vdz.1_Missense_Mutation_p.E179K|HBP1_uc003vea.2_Missense_Mutation_p.E179K|HBP1_uc003veb.1_Missense_Mutation_p.E179K	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	179					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding				0														0.442105	234.070357	234.62486	84	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106613618	106613618	7267	7	G	A	A	37	37	HBP1	A	1	1
COG5	10466	broad.mit.edu	36	7	106686064	106686064	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106686064G>A	uc003vec.1	-	c.1669C>T	c.(1669-1671)CTC>TTC	p.L557F	COG5_uc003ved.1_Missense_Mutation_p.L557F|COG5_uc003vee.1_Missense_Mutation_p.L557F	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	557					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)	2														0.444444	301.250423	301.90611	108	135	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106686064	106686064	3799	7	G	A	A	34	34	COG5	A	2	2
COG5	10466	broad.mit.edu	36	7	106790033	106790033	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106790033T>C	uc003vec.1	-	c.997A>G	c.(997-999)AAT>GAT	p.N333D	COG5_uc003ved.1_Missense_Mutation_p.N333D|COG5_uc003vee.1_Missense_Mutation_p.N333D	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	333					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)	2														0.396396	139.513934	140.544027	44	67	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106790033	106790033	3799	7	T	C	C	63	63	COG5	C	4	4
COG5	10466	broad.mit.edu	36	7	106800337	106800337	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106800337T>G	uc003vec.1	-	c.867A>C	c.(865-867)GAA>GAC	p.E289D	COG5_uc003ved.1_Missense_Mutation_p.E289D|COG5_uc003vee.1_Missense_Mutation_p.E289D	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	289					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)	2														0.240964	106.719944	116.880307	40	126	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106800337	106800337	3799	7	T	G	G	64	64	COG5	G	4	4
COG5	10466	broad.mit.edu	36	7	106800421	106800421	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106800421T>G	uc003vec.1	-	c.783A>C	c.(781-783)ACA>ACC	p.T261T	COG5_uc003ved.1_Silent_p.T261T|COG5_uc003vee.1_Silent_p.T261T	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	261					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)	2														0.2	55.063282	64.693398	23	92	TT		KEEP	---	---	---	---	capture			Silent	SNP	106800421	106800421	3799	7	T	G	G	55	55	COG5	G	4	4
COG5	10466	broad.mit.edu	36	7	106840293	106840293	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106840293C>A	uc003vec.1	-	c.652G>T	c.(652-654)GAT>TAT	p.D218Y	COG5_uc003ved.1_Missense_Mutation_p.D218Y|COG5_uc003vee.1_Missense_Mutation_p.D218Y	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	218					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)	2														0.27451	64.046116	68.725076	28	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106840293	106840293	3799	7	C	A	A	32	32	COG5	A	3	3
COG5	10466	broad.mit.edu	36	7	106975824	106975824	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106975824C>T	uc003vec.1	-	c.478G>A	c.(478-480)GTT>ATT	p.V160I	COG5_uc003ved.1_Missense_Mutation_p.V160I|COG5_uc003vee.1_Missense_Mutation_p.V160I	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	160					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)	2														0.131579	23.9855	44.050673	20	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106975824	106975824	3799	7	C	T	T	20	20	COG5	T	2	2
DUS4L	11062	broad.mit.edu	36	7	107005134	107005134	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107005134A>G	uc003veh.1	+	c.847A>G	c.(847-849)ATG>GTG	p.M283V	DUS4L_uc003veg.1_Missense_Mutation_p.M162V|DUS4L_uc010ljl.1_Missense_Mutation_p.M193V|BCAP29_uc003vei.1_5'Flank|BCAP29_uc003vej.1_5'Flank|BCAP29_uc003vek.1_5'Flank|BCAP29_uc003vel.1_5'Flank|BCAP29_uc003vem.1_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like	283					oxidation-reduction process|tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0														0.216981	119.947475	135.59726	46	166	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107005134	107005134	4993	7	A	G	G	4	4	DUS4L	G	4	4
BCAP29	55973	broad.mit.edu	36	7	107011624	107011624	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107011624T>G	uc003vei.1	+	c.154T>G	c.(154-156)TTC>GTC	p.F52V	BCAP29_uc003vej.1_Missense_Mutation_p.F52V|BCAP29_uc003vek.1_Missense_Mutation_p.F52V|BCAP29_uc003vel.1_Missense_Mutation_p.F52V|BCAP29_uc003vem.1_Missense_Mutation_p.F52V	NM_001008405	NP_001008405	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	52	Helical; (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2														0.42654	297.528541	298.519125	90	121	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107011624	107011624	1367	7	T	G	G	64	64	BCAP29	G	4	4
SLC26A4	5172	broad.mit.edu	36	7	107102778	107102778	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107102778C>A	uc003vep.1	+	c.753C>A	c.(751-753)CTC>CTA	p.L251L		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	251	Extracellular (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)	5														0.18125	100.739646	131.319408	58	262	CC		KEEP	---	---	---	---	capture			Silent	SNP	107102778	107102778	15016	7	C	A	A	32	32	SLC26A4	A	3	3
SLC26A4	5172	broad.mit.edu	36	7	107116869	107116869	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107116869C>T	uc003vep.1	+	c.1137C>T	c.(1135-1137)ATC>ATT	p.I379I		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	379	Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)	5														0.268908	229.247908	246.453111	96	261	CC		KEEP	---	---	---	---	capture			Silent	SNP	107116869	107116869	15016	7	C	T	T	31	31	SLC26A4	T	1	1
SLC26A4	5172	broad.mit.edu	36	7	107137734	107137734	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107137734G>T	uc003vep.1	+	c.2090_splice	c.e19-1	p.D697_splice		NM_000441	NP_000432			pendrin						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)	5														0.238532	55.385284	62.200144	26	83	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	107137734	107137734	15016	7	G	T	T	33	33	SLC26A4	T	5	3
SLC26A4	5172	broad.mit.edu	36	7	107137826	107137826	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107137826C>A	uc003vep.1	+	c.2181C>A	c.(2179-2181)CTC>CTA	p.L727L		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	727	STAS.|Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)	5														0.177419	37.063859	49.230385	22	102	CC		KEEP	---	---	---	---	capture			Silent	SNP	107137826	107137826	15016	7	C	A	A	32	32	SLC26A4	A	3	3
CBLL1	79872	broad.mit.edu	36	7	107183161	107183161	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107183161G>T	uc003veq.1	+	c.429G>T	c.(427-429)AAG>AAT	p.K143N		NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	143	RING-type.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4														0.23741	137.381754	154.923499	66	212	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107183161	107183161	2822	7	G	T	T	33	33	CBLL1	T	3	3
SLC26A3	1811	broad.mit.edu	36	7	107210927	107210927	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107210927C>T	uc003ver.2	-	c.1078G>A	c.(1078-1080)GTC>ATC	p.V360I	SLC26A3_uc003ves.2_Missense_Mutation_p.V325I	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	360	Helical; (Potential).				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)	3														0.206349	77.627265	92.734072	39	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107210927	107210927	15015	7	C	T	T	19	19	SLC26A3	T	1	1
SLC26A3	1811	broad.mit.edu	36	7	107222145	107222145	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107222145A>G	uc003ver.2	-	c.46T>C	c.(46-48)TAT>CAT	p.Y16H	SLC26A3_uc003ves.2_5'UTR	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	16					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)	3														0.189055	86.366192	104.522535	38	163	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107222145	107222145	15015	7	A	G	G	14	14	SLC26A3	G	4	4
LAMB1	3912	broad.mit.edu	36	7	107383289	107383289	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107383289C>T	uc003vev.2	-	c.2785G>A	c.(2785-2787)GAC>AAC	p.D929N	LAMB1_uc003vew.2_Missense_Mutation_p.D905N	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	905	Laminin EGF-like 8.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.456522	114.532677	114.684489	42	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107383289	107383289	8933	7	C	T	T	31	31	LAMB1	T	1	1
LAMB1	3912	broad.mit.edu	36	7	107386992	107386992	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107386992G>A	uc003vev.2	-	c.2700C>T	c.(2698-2700)TGC>TGT	p.C900C	LAMB1_uc003vew.2_Silent_p.C876C	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	876	Laminin EGF-like 8.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.403599	412.318846	415.469362	157	232	GG		KEEP	---	---	---	---	capture			Silent	SNP	107386992	107386992	8933	7	G	A	A	38	38	LAMB1	A	1	1
LAMB1	3912	broad.mit.edu	36	7	107400712	107400712	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107400712C>T	uc003vev.2	-	c.1595G>A	c.(1594-1596)CGA>CAA	p.R532Q	LAMB1_uc003vew.2_Missense_Mutation_p.R508Q|LAMB1_uc003vex.2_Missense_Mutation_p.R508Q|LAMB1_uc010ljn.1_Missense_Mutation_p.R594Q	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	508	Laminin EGF-like 4.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.434146	253.752321	254.525028	89	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107400712	107400712	8933	7	C	T	T	31	31	LAMB1	T	1	1
LAMB1	3912	broad.mit.edu	36	7	107408295	107408295	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107408295C>A	uc003vev.2	-	c.946G>T	c.(946-948)GGA>TGA	p.G316*	LAMB1_uc003vew.2_Nonsense_Mutation_p.G292*|LAMB1_uc003vex.2_Nonsense_Mutation_p.G292*|LAMB1_uc010ljn.1_Nonsense_Mutation_p.G378*	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	292	Laminin EGF-like 1.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.187919	51.497857	65.101442	28	121	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	107408295	107408295	8933	7	C	A	A	24	24	LAMB1	A	5	3
LAMB4	22798	broad.mit.edu	36	7	107479868	107479868	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107479868C>A	uc010ljo.1	-	c.3826G>T	c.(3826-3828)GAA>TAA	p.E1276*	LAMB4_uc003vey.2_Nonsense_Mutation_p.E1276*|LAMB4_uc010ljp.1_Nonsense_Mutation_p.E245*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1276	Domain II.|Potential.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.237548	130.794578	147.242868	62	199	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	107479868	107479868	8936	7	C	A	A	32	32	LAMB4	A	5	3
LAMB4	22798	broad.mit.edu	36	7	107485593	107485593	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107485593G>A	uc010ljo.1	-	c.3299C>T	c.(3298-3300)CCG>CTG	p.P1100L	LAMB4_uc003vey.2_Missense_Mutation_p.P1100L|LAMB4_uc010ljp.1_Missense_Mutation_p.P69L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1100	Laminin EGF-like 12.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.162791	25.592526	34.891438	14	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107485593	107485593	8936	7	G	A	A	39	39	LAMB4	A	1	1
LAMB4	22798	broad.mit.edu	36	7	107490634	107490634	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107490634G>A	uc010ljo.1	-	c.3103C>T	c.(3103-3105)CCC>TCC	p.P1035S	LAMB4_uc003vey.2_Missense_Mutation_p.P1035S|LAMB4_uc010ljp.1_Missense_Mutation_p.P4S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1035	Laminin EGF-like 11.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.371134	92.431083	93.861896	36	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107490634	107490634	8936	7	G	A	A	41	41	LAMB4	A	2	2
LAMB4	22798	broad.mit.edu	36	7	107519311	107519311	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107519311G>T	uc010ljo.1	-	c.1697C>A	c.(1696-1698)CCT>CAT	p.P566H	LAMB4_uc003vey.2_Missense_Mutation_p.P566H	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4	566	Laminin IV type B.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.217391	91.948808	107.207034	45	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107519311	107519311	8936	7	G	T	T	35	35	LAMB4	T	3	3
LAMB4	22798	broad.mit.edu	36	7	107535365	107535365	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107535365C>T	uc010ljo.1	-	c.538G>A	c.(538-540)GAC>AAC	p.D180N	LAMB4_uc003vey.2_Missense_Mutation_p.D180N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4	180	Laminin N-terminal.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.365854	127.437068	129.385667	45	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107535365	107535365	8936	7	C	T	T	32	32	LAMB4	T	2	2
LAMB4	22798	broad.mit.edu	36	7	107543712	107543712	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107543712C>A	uc010ljo.1	-	c.165G>T	c.(163-165)CAG>CAT	p.Q55H	LAMB4_uc003vey.2_Missense_Mutation_p.Q55H	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4	55	Laminin N-terminal.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.446237	215.501152	215.981942	83	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107543712	107543712	8936	7	C	A	A	32	32	LAMB4	A	3	3
LAMB4	22798	broad.mit.edu	36	7	107550856	107550856	+	De_novo_Start_OutOfFrame	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107550856G>T	uc010ljo.1	-	c.-10C>A	c.(-12--8)TCCTG>TCATG		LAMB4_uc003vey.2_De_novo_Start_OutOfFrame	NM_007356	NP_031382			laminin, beta 4						cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.145833	19.480966	31.068889	14	82	GG		KEEP	---	---	---	---	capture			De_novo_Start_OutOfFrame	SNP	107550856	107550856	8936	7	G	T	T	35	35	LAMB4	T	5	3
NDUFA4	4697	broad.mit.edu	36	7	10945017	10945017	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:10945017C>T	uc003srx.1	-	c.74G>A	c.(73-75)GGA>GAA	p.G25E		NM_002489	NP_002480	O00483	NDUA4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	25					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)									0.17037	43.537754	57.416587	23	112	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	Missense_Mutation	SNP	10945017	10945017	10665	7	C	T	T	30	30	NDUFA4	T	2	2
LRRN3	54674	broad.mit.edu	36	7	110550685	110550685	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:110550685C>A	uc003vft.2	+	c.621C>A	c.(619-621)AAC>AAA	p.N207K	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.2_Missense_Mutation_p.N207K|LRRN3_uc003vfs.2_Missense_Mutation_p.N207K|LRRN3_uc010ljs.1_Missense_Mutation_p.N207K	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	207	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5														0.165049	61.40982	83.356496	34	172	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	Missense_Mutation	SNP	110550685	110550685	9412	7	C	A	A	20	20	LRRN3	A	3	3
DOCK4	9732	broad.mit.edu	36	7	111155936	111155936	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:111155936G>A	uc003vfy.1	-	c.5666C>T	c.(5665-5667)TCG>TTG	p.S1889L	DOCK4_uc003vfw.1_Missense_Mutation_p.S1256L|DOCK4_uc003vfx.1_Missense_Mutation_p.S1844L|DOCK4_uc003vfv.1_Missense_Mutation_p.S157L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1844	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.474359	103.597343	103.639087	37	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111155936	111155936	4873	7	G	A	A	37	37	DOCK4	A	1	1
DOCK4	9732	broad.mit.edu	36	7	111168401	111168401	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:111168401T>G	uc003vfy.1	-	c.5133A>C	c.(5131-5133)GAA>GAC	p.E1711D	DOCK4_uc003vfw.1_Missense_Mutation_p.E1116D|DOCK4_uc003vfx.1_Missense_Mutation_p.E1666D|DOCK4_uc003vfv.1_5'Flank	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1666	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.42246	469.471529	471.436605	158	216	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111168401	111168401	4873	7	T	G	G	56	56	DOCK4	G	4	4
DOCK4	9732	broad.mit.edu	36	7	111373084	111373084	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:111373084C>T	uc003vfy.1	-	c.707G>A	c.(706-708)AGA>AAA	p.R236K	DOCK4_uc003vfx.1_Missense_Mutation_p.R236K|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.R236K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	236					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.526316	31.250033	31.261402	10	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111373084	111373084	4873	7	C	T	T	32	32	DOCK4	T	2	2
DOCK4	9732	broad.mit.edu	36	7	111404565	111404565	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:111404565G>A	uc003vfy.1	-	c.559C>T	c.(559-561)CGA>TGA	p.R187*	DOCK4_uc003vfx.1_Nonsense_Mutation_p.R187*|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Nonsense_Mutation_p.R187*|DOCK4_uc003vgb.1_Nonsense_Mutation_p.R111*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	187					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.458333	31.321347	31.357731	11	13	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	111404565	111404565	4873	7	G	A	A	37	37	DOCK4	A	5	1
C7orf53	286006	broad.mit.edu	36	7	111914262	111914262	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:111914262G>A	uc003vgm.1	+	c.176G>A	c.(175-177)AGC>AAC	p.S59N	C7orf53_uc003vgl.1_Non-coding_Transcript	NM_182597	NP_872403	Q8N8F7	CG053_HUMAN	hypothetical protein LOC286006	59						integral to membrane				ovary(1)	1														0.439791	246.262264	246.867402	84	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111914262	111914262	2509	7	G	A	A	34	34	C7orf53	A	2	2
C7orf53	286006	broad.mit.edu	36	7	111914312	111914312	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:111914312G>A	uc003vgm.1	+	c.226G>A	c.(226-228)GCA>ACA	p.A76T	C7orf53_uc003vgl.1_Non-coding_Transcript	NM_182597	NP_872403	Q8N8F7	CG053_HUMAN	hypothetical protein LOC286006	76	Helical; (Potential).					integral to membrane		p.A76T(1)		ovary(1)	1														0.436937	268.370898	269.133227	97	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111914312	111914312	2509	7	G	A	A	42	42	C7orf53	A	2	2
PPP1R3A	5506	broad.mit.edu	36	7	113306068	113306068	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:113306068G>A	uc010ljy.1	-	c.2315C>T	c.(2314-2316)GCG>GTG	p.A772V		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	772					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.2	106.211083	128.806166	54	216	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113306068	113306068	12806	7	G	A	A	38	38	PPP1R3A	A	1	1
PPP1R3A	5506	broad.mit.edu	36	7	113307259	113307259	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:113307259G>T	uc010ljy.1	-	c.1124C>A	c.(1123-1125)TCT>TAT	p.S375Y		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	375					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.424893	534.430374	536.732038	198	268	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113307259	113307259	12806	7	G	T	T	33	33	PPP1R3A	T	3	3
PPP1R3A	5506	broad.mit.edu	36	7	113345994	113345994	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:113345994A>C	uc010ljy.1	-	c.294T>G	c.(292-294)ATT>ATG	p.I98M		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	98					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.394595	235.837874	237.636182	73	112	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113345994	113345994	12806	7	A	C	C	1	1	PPP1R3A	C	4	4
FOXP2	93986	broad.mit.edu	36	7	114081232	114081232	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:114081232G>A	uc003vgz.2	+	c.1273G>A	c.(1273-1275)GAA>AAA	p.E425K	FOXP2_uc003vgu.2_Non-coding_Transcript|FOXP2_uc003vha.2_Missense_Mutation_p.E308K|FOXP2_uc003vhb.2_Missense_Mutation_p.E400K|FOXP2_uc003vhc.2_Missense_Mutation_p.E425K|FOXP2_uc003vhd.2_Missense_Mutation_p.E400K|FOXP2_uc010ljz.1_Missense_Mutation_p.E308K	NM_148898	NP_683697	O15409	FOXP2_HUMAN	forkhead box P2 isoform II	400	Leucine-zipper.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|lung(1)|breast(1)|pancreas(1)	7														0.195592	140.13047	171.483479	71	292	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114081232	114081232	6273	7	G	A	A	37	37	FOXP2	A	1	1
FOXP2	93986	broad.mit.edu	36	7	114085496	114085496	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:114085496T>C	uc003vgz.2	+	c.1481T>C	c.(1480-1482)GTG>GCG	p.V494A	FOXP2_uc003vgu.2_Intron|FOXP2_uc003vha.2_Missense_Mutation_p.V377A|FOXP2_uc003vhb.2_Missense_Mutation_p.V469A|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vhe.1_Missense_Mutation_p.V39A	NM_148898	NP_683697	O15409	FOXP2_HUMAN	forkhead box P2 isoform II	469					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|lung(1)|breast(1)|pancreas(1)	7														0.258824	104.43861	113.387884	44	126	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114085496	114085496	6273	7	T	C	C	59	59	FOXP2	C	4	4
MDFIC	29969	broad.mit.edu	36	7	114443177	114443177	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:114443177C>T	uc003vhf.1	+	c.1020C>T	c.(1018-1020)GAC>GAT	p.D340D		NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing protein	231	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding|transcription repressor activity			ovary(1)	1														0.175799	154.589296	198.008992	77	361	CC		KEEP	---	---	---	---	capture			Silent	SNP	114443177	114443177	9794	7	C	T	T	20	20	MDFIC	T	2	2
THSD7A	221981	broad.mit.edu	36	7	11466825	11466825	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:11466825C>T	uc003ssf.2	-	c.2594G>A	c.(2593-2595)CGA>CAA	p.R865Q		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	865	Extracellular (Potential).					integral to membrane				ovary(3)	3														0.236364	29.044611	32.541493	13	42	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	Missense_Mutation	SNP	11466825	11466825	16407	7	C	T	T	31	31	THSD7A	T	1	1
TFEC	22797	broad.mit.edu	36	7	115367930	115367930	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:115367930C>A	uc003vhj.1	-	c.955G>T	c.(955-957)GAT>TAT	p.D319Y	TFEC_uc003vhk.1_Missense_Mutation_p.D290Y|TFEC_uc003vhl.2_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	319	Necessary for transcriptional transactivation.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulator activity			large_intestine(1)	1														0.183099	87.112667	113.913938	52	232	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.00878)		Missense_Mutation	SNP	115367930	115367930	16330	7	C	A	A	32	32	TFEC	A	3	3
TES	26136	broad.mit.edu	36	7	115677667	115677667	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:115677667C>T	uc003vho.1	+	c.583C>T	c.(583-585)CCC>TCC	p.P195S	TES_uc003vhp.1_Missense_Mutation_p.P186S	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	testin isoform 1	195	PET.					cytoplasm|focal adhesion|nucleus	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)												0.189394	49.39187	61.310262	25	107	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.00878)		Missense_Mutation	SNP	115677667	115677667	16292	7	C	T	T	30	30	TES	T	2	2
TES	26136	broad.mit.edu	36	7	115684674	115684674	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:115684674C>A	uc003vho.1	+	c.1168C>A	c.(1168-1170)CTG>ATG	p.L390M	TES_uc003vhp.1_Missense_Mutation_p.L381M	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	testin isoform 1	390	LIM zinc-binding 3.					cytoplasm|focal adhesion|nucleus	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)												0.421429	156.985985	157.743212	59	81	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.00878)		Missense_Mutation	SNP	115684674	115684674	16292	7	C	A	A	32	32	TES	A	3	3
CAV2	858	broad.mit.edu	36	7	115927110	115927110	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:115927110C>T	uc003vid.1	+	c.39C>T	c.(37-39)TTC>TTT	p.F13F	CAV2_uc003vhv.2_Intron|CAV2_uc003vhw.2_Intron|CAV2_uc003vhx.2_Intron|CAV2_uc010lkb.1_Intron|CAV2_uc003vib.2_Intron|CAV2_uc003vhz.2_Intron|CAV2_uc003via.2_Intron|CAV2_uc010lkc.1_Intron|CAV1_uc010lkd.1_Intron|CAV1_uc010lke.1_Intron|CAV2_uc003vie.1_Silent_p.F13F	NM_001233	NP_001224	P51636	CAV2_HUMAN	caveolin 2 isoform a and b	13	Cytoplasmic (Potential).				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity				0	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)													0.611111	31.624406	31.818297	11	7	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.00878)		Silent	SNP	115927110	115927110	2813	7	C	T	T	29	29	CAV2	T	2	2
THSD7A	221981	broad.mit.edu	36	7	11599639	11599639	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:11599639C>A	uc003ssf.2	-	c.1038G>T	c.(1036-1038)GAG>GAT	p.E346D		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	346	Extracellular (Potential).					integral to membrane				ovary(3)	3														0.237113	94.846035	107.109958	46	148	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	Missense_Mutation	SNP	11599639	11599639	16407	7	C	A	A	32	32	THSD7A	A	3	3
MET	4233	broad.mit.edu	36	7	116127412	116127412	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116127412C>T	uc010lkh.1	+	c.1038C>T	c.(1036-1038)TTC>TTT	p.F346F	MET_uc010lkg.1_Silent_p.F346F|MET_uc003vij.1_Silent_p.F346F|MET_uc003vii.1_Silent_p.F365F	NM_001127500	NP_001120972	P08581	MET_HUMAN	met proto-oncogene isoform a precursor	346	Extracellular (Potential).|Sema.				axon guidance|cell proliferation|protein phosphorylation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|NS(3)|large_intestine(2)|testis(1)|breast(1)	148	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)							p.F346F(EFO27-Tumor)	299				0.377551	97.656692	98.943589	37	61	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		Silent	SNP	116127412	116127412	9874	7	C	T	T	31	31	MET	T	1	1
MET	4233	broad.mit.edu	36	7	116159034	116159034	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116159034G>A	uc010lkh.1	+	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	MET_uc010lkg.1_Missense_Mutation_p.R426H|MET_uc003vij.1_Missense_Mutation_p.R426H	NM_001127500	NP_001120972	P08581	MET_HUMAN	met proto-oncogene isoform a precursor	426	Extracellular (Potential).|Sema.				axon guidance|cell proliferation|protein phosphorylation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|NS(3)|large_intestine(2)|testis(1)|breast(1)	148	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)								299				0.192308	56.055826	69.85569	30	126	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		Missense_Mutation	SNP	116159034	116159034	9874	7	G	A	A	38	38	MET	A	1	1
MET	4233	broad.mit.edu	36	7	116206210	116206210	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116206210A>G	uc010lkh.1	+	c.3539A>G	c.(3538-3540)CAT>CGT	p.H1180R	MET_uc003vij.1_Missense_Mutation_p.H1162R	NM_001127500	NP_001120972	P08581	MET_HUMAN	met proto-oncogene isoform a precursor	1162	Protein kinase.|Cytoplasmic (Potential).				axon guidance|cell proliferation|protein phosphorylation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|NS(3)|large_intestine(2)|testis(1)|breast(1)	148	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)								299				0.462687	289.166669	289.408575	93	108	AA		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		Missense_Mutation	SNP	116206210	116206210	9874	7	A	G	G	8	8	MET	G	4	4
CAPZA2	830	broad.mit.edu	36	7	116331611	116331611	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116331611A>G	uc003vil.1	+	c.364A>G	c.(364-366)ACT>GCT	p.T122A		NM_006136	NP_006127	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line,	122					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding				0	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)													0.410256	268.179577	269.547295	80	115	AA		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)		Missense_Mutation	SNP	116331611	116331611	2760	7	A	G	G	2	2	CAPZA2	G	4	4
ZFAND2A	90637	broad.mit.edu	36	7	1163907	1163907	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:1163907G>T	uc003skc.1	-	c.61C>A	c.(61-63)CTT>ATT	p.L21I	ZFAND2A_uc003skd.2_Missense_Mutation_p.L21I	NM_182491	NP_872297	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	21	AN1-type 1.					cytoplasm|nucleus	zinc ion binding			ovary(1)	1		Ovarian(82;0.11)												0.485342	403.528432	403.586658	149	158	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	Missense_Mutation	SNP	1163907	1163907	18215	7	G	T	T	33	33	ZFAND2A	T	3	3
THSD7A	221981	broad.mit.edu	36	7	11642664	11642664	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:11642664G>A	uc003ssf.2	-	c.640C>T	c.(640-642)CTC>TTC	p.L214F		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	214	Extracellular (Potential).|TSP type-1 2.					integral to membrane				ovary(3)	3														0.484848	94.417635	94.429463	32	34	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	Missense_Mutation	SNP	11642664	11642664	16407	7	G	A	A	34	34	THSD7A	A	2	2
ASZ1	136991	broad.mit.edu	36	7	116812055	116812055	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116812055C>T	uc003vjb.2	-	c.648G>A	c.(646-648)AAG>AAA	p.K216K		NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	216	ANK 6.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)													0.217993	145.536707	166.757721	63	226	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000512)		Silent	SNP	116812055	116812055	1088	7	C	T	T	32	32	ASZ1	T	2	2
CFTR	1080	broad.mit.edu	36	7	116936374	116936374	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116936374C>A	uc003vjd.1	+	c.215C>A	c.(214-216)GCC>GAC	p.A72D		NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	72	Cytoplasmic (Potential).				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)|ovary(1)	3	Lung NSC(10;0.00148)|all_lung(10;0.00171)				Bumetanide(DB00887)|Glibenclamide(DB01016)									0.502222	326.452041	326.45289	113	112	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000534)		Missense_Mutation	SNP	116936374	116936374	3427	7	C	A	A	26	26	CFTR	A	3	3
CFTR	1080	broad.mit.edu	36	7	116986846	116986846	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116986846C>T	uc003vjd.1	+	c.1485C>T	c.(1483-1485)TCC>TCT	p.S495S	CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	495	Cytoplasmic (Potential).|ABC transporter 1.				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)|ovary(1)	3	Lung NSC(10;0.00148)|all_lung(10;0.00171)				Bumetanide(DB00887)|Glibenclamide(DB01016)									0.211538	131.607013	151.592466	55	205	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000534)		Silent	SNP	116986846	116986846	3427	7	C	T	T	24	24	CFTR	T	2	2
CFTR	1080	broad.mit.edu	36	7	117037842	117037842	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:117037842G>A	uc003vjd.1	+	c.3022G>A	c.(3022-3024)GTC>ATC	p.V1008I		NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1008	Helical; Name=9; (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)|ovary(1)	3	Lung NSC(10;0.00148)|all_lung(10;0.00171)				Bumetanide(DB00887)|Glibenclamide(DB01016)									0.452055	178.818043	179.112005	66	80	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000534)		Missense_Mutation	SNP	117037842	117037842	3427	7	G	A	A	48	48	CFTR	A	2	2
CFTR	1080	broad.mit.edu	36	7	117054967	117054967	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:117054967C>T	uc003vjd.1	+	c.3624C>T	c.(3622-3624)GGC>GGT	p.G1208G		NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1208	Cytoplasmic (Potential).				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)|ovary(1)	3	Lung NSC(10;0.00148)|all_lung(10;0.00171)				Bumetanide(DB00887)|Glibenclamide(DB01016)									0.448529	169.749105	170.0639	61	75	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000534)		Silent	SNP	117054967	117054967	3427	7	C	T	T	26	26	CFTR	T	2	2
CTTNBP2	83992	broad.mit.edu	36	7	117145322	117145322	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:117145322G>A	uc003vjf.1	-	c.4732C>T	c.(4732-4734)CCA>TCA	p.P1578S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1578										ovary(4)	4	Lung NSC(10;0.0018)|all_lung(10;0.002)													0.382353	111.106483	112.342258	39	63	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(290;0.133)	Missense_Mutation	SNP	117145322	117145322	4204	7	G	A	A	42	42	CTTNBP2	A	2	2
CTTNBP2	83992	broad.mit.edu	36	7	117162257	117162257	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:117162257G>A	uc003vjf.1	-	c.3822C>T	c.(3820-3822)GGC>GGT	p.G1274G		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1274										ovary(4)	4	Lung NSC(10;0.0018)|all_lung(10;0.002)													0.521739	170.129327	170.179501	60	55	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(290;0.133)	Silent	SNP	117162257	117162257	4204	7	G	A	A	38	38	CTTNBP2	A	1	1
KCND2	3751	broad.mit.edu	36	7	119702763	119702763	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:119702763G>T	uc003vjj.1	+	c.841G>T	c.(841-843)GAC>TAC	p.D281Y		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	281					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(327;0.117)													0.461538	157.719075	157.892507	60	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119702763	119702763	8324	7	G	T	T	33	33	KCND2	T	3	3
KCND2	3751	broad.mit.edu	36	7	120160282	120160282	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:120160282T>C	uc003vjj.1	+	c.1205T>C	c.(1204-1206)GTT>GCT	p.V402A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	402	Helical; Name=Segment S6; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(327;0.117)													0.179245	89.740288	110.246162	38	174	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120160282	120160282	8324	7	T	C	C	60	60	KCND2	C	4	4
KCND2	3751	broad.mit.edu	36	7	120168865	120168865	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:120168865C>T	uc003vjj.1	+	c.1320C>T	c.(1318-1320)AGC>AGT	p.S440S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	440	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(327;0.117)													0.158879	24.540993	36.388418	17	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	120168865	120168865	8324	7	C	T	T	27	27	KCND2	T	1	1
TSPAN12	23554	broad.mit.edu	36	7	120233934	120233934	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:120233934C>A	uc003vjk.1	-	c.517G>T	c.(517-519)GAG>TAG	p.E173*	TSPAN12_uc010lkj.1_Nonsense_Mutation_p.E46*	NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	173	Extracellular (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)													0.214765	62.805345	74.010908	32	117	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	120233934	120233934	17187	7	C	A	A	32	32	TSPAN12	A	5	3
ING3	54556	broad.mit.edu	36	7	120380646	120380646	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:120380646G>T	uc003vjn.1	+	c.153G>T	c.(151-153)AAG>AAT	p.K51N	ING3_uc003vjl.2_Missense_Mutation_p.K51N|ING3_uc003vjm.1_Missense_Mutation_p.K51N|ING3_uc003vjo.1_5'UTR|ING3_uc003vjp.1_Missense_Mutation_p.K51N	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	51					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)													0.176471	56.14606	74.610642	33	154	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120380646	120380646	8038	7	G	T	T	33	33	ING3	T	3	3
WNT16	51384	broad.mit.edu	36	7	120759255	120759255	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:120759255G>A	uc003vjw.1	+	c.633_splice	c.e3+1	p.Q211_splice	WNT16_uc003vjv.1_Splice_Site_SNP_p.Q201_splice|WNT16_uc010lkl.1_Intron	NM_057168	NP_476509			wingless-type MMTV integration site family,						anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|negative regulation of gene-specific transcription from RNA polymerase II promoter|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(2)|large_intestine(1)	3	all_neural(327;0.117)													0.17094	33.928493	45.910905	20	97	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	120759255	120759255	17959	7	G	A	A	44	44	WNT16	A	5	2
PTPRZ1	5803	broad.mit.edu	36	7	121395269	121395269	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:121395269G>A	uc003vjy.1	+	c.153G>A	c.(151-153)AAG>AAA	p.K51K	PTPRZ1_uc003vjz.1_Silent_p.K51K	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	51	Extracellular (Potential).|Alpha-carbonic anhydrase.				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														0.235632	99.078545	110.205182	41	133	GG		KEEP	---	---	---	---	capture			Silent	SNP	121395269	121395269	13272	7	G	A	A	33	33	PTPRZ1	A	2	2
PTPRZ1	5803	broad.mit.edu	36	7	121410956	121410956	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:121410956G>T	uc003vjy.1	+	c.621G>T	c.(619-621)GGG>GGT	p.G207G	PTPRZ1_uc003vjz.1_Silent_p.G207G	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	207	Extracellular (Potential).|Alpha-carbonic anhydrase.				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														0.37963	322.324154	326.449829	123	201	GG		KEEP	---	---	---	---	capture			Silent	SNP	121410956	121410956	13272	7	G	T	T	41	41	PTPRZ1	T	3	3
PTPRZ1	5803	broad.mit.edu	36	7	121461643	121461643	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:121461643G>T	uc003vjy.1	+	c.5259G>T	c.(5257-5259)AAG>AAT	p.K1753N	PTPRZ1_uc003vjz.1_Missense_Mutation_p.K886N	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1753	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				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														0.170732	33.889199	46.513331	21	102	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121461643	121461643	13272	7	G	T	T	33	33	PTPRZ1	T	3	3
AASS	10157	broad.mit.edu	36	7	121506212	121506212	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:121506212G>A	uc003vka.1	-	c.2425C>T	c.(2425-2427)CCT>TCT	p.P809S	AASS_uc003vkb.1_Missense_Mutation_p.P809S	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	809	Saccharopine dehydrogenase.				oxidation-reduction process|protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			ovary(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)									0.1625	67.062582	93.063666	39	201	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121506212	121506212	25	7	G	A	A	41	41	AASS	A	2	2
AASS	10157	broad.mit.edu	36	7	121513366	121513366	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:121513366T>A	uc003vka.1	-	c.2120A>T	c.(2119-2121)AAA>ATA	p.K707I	AASS_uc003vkb.1_Missense_Mutation_p.K707I	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	707	Saccharopine dehydrogenase.				oxidation-reduction process|protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			ovary(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)									0.434524	196.537968	197.167459	73	95	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121513366	121513366	25	7	T	A	A	64	64	AASS	A	4	4
AASS	10157	broad.mit.edu	36	7	121545628	121545628	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:121545628A>C	uc003vka.1	-	c.656T>G	c.(655-657)TTT>TGT	p.F219C	AASS_uc003vkb.1_Missense_Mutation_p.F219C	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	219	Lysine-ketoglutarate reductase.				oxidation-reduction process|protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			ovary(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)									0.428571	333.098584	334.159822	102	136	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121545628	121545628	25	7	A	C	C	1	1	AASS	C	4	4
CADPS2	93664	broad.mit.edu	36	7	122048847	122048847	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:122048847G>T	uc010lkp.1	-	c.1028C>A	c.(1027-1029)TCT>TAT	p.S343Y	CADPS2_uc003vkg.2_Missense_Mutation_p.S43Y|CADPS2_uc010lkq.1_Missense_Mutation_p.S343Y	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	343					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.209486	101.199601	121.00573	53	200	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122048847	122048847	2687	7	G	T	T	33	33	CADPS2	T	3	3
SLC13A1	6561	broad.mit.edu	36	7	122556178	122556178	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:122556178G>A	uc003vkm.1	-	c.1090C>T	c.(1090-1092)CGA>TGA	p.R364*	SLC13A1_uc010lks.1_Nonsense_Mutation_p.R240*	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	364	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)									0.202247	35.895405	43.232167	18	71	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	122556178	122556178	14886	7	G	A	A	37	37	SLC13A1	A	5	1
SLC13A1	6561	broad.mit.edu	36	7	122561803	122561803	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:122561803G>A	uc003vkm.1	-	c.829C>T	c.(829-831)CGT>TGT	p.R277C	SLC13A1_uc010lks.1_Missense_Mutation_p.R153C	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	277						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)									0.284091	61.942088	65.623386	25	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122561803	122561803	14886	7	G	A	A	37	37	SLC13A1	A	1	1
LMOD2	442721	broad.mit.edu	36	7	123089702	123089702	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123089702G>A	uc003vky.2	+	c.826G>A	c.(826-828)GAG>AAG	p.E276K		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	276						cytoskeleton	actin binding|tropomyosin binding				0														0.222222	76.033586	87.521758	36	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123089702	123089702	9186	7	G	A	A	37	37	LMOD2	A	1	1
LMOD2	442721	broad.mit.edu	36	7	123089781	123089781	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123089781G>A	uc003vky.2	+	c.905G>A	c.(904-906)CGT>CAT	p.R302H		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	302						cytoskeleton	actin binding|tropomyosin binding				0														0.484848	313.277725	313.323776	112	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123089781	123089781	9186	7	G	A	A	40	40	LMOD2	A	1	1
HYAL4	23553	broad.mit.edu	36	7	123295926	123295926	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123295926T>C	uc003vlc.1	+	c.363T>C	c.(361-363)CAT>CAC	p.H121H		NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	121	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity				0														0.215596	121.023082	137.281888	47	171	TT		KEEP	---	---	---	---	capture			Silent	SNP	123295926	123295926	7766	7	T	C	C	50	50	HYAL4	C	4	4
HYAL4	23553	broad.mit.edu	36	7	123296413	123296413	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123296413G>T	uc003vlc.1	+	c.850G>T	c.(850-852)GAA>TAA	p.E284*		NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	284	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity				0														0.392593	141.134734	142.501418	53	82	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	123296413	123296413	7766	7	G	T	T	45	45	HYAL4	T	5	3
SPAM1	6677	broad.mit.edu	36	7	123381418	123381418	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123381418G>A	uc003vle.1	+	c.558G>A	c.(556-558)GAG>GAA	p.E186E	SPAM1_uc003vld.1_Silent_p.E186E|SPAM1_uc003vlf.2_Silent_p.E186E|SPAM1_uc010lku.1_Silent_p.E186E	NM_003117	NP_003108	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 1	186					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)									0.257669	106.467543	115.147304	42	121	GG		KEEP	---	---	---	---	capture			Silent	SNP	123381418	123381418	15489	7	G	A	A	33	33	SPAM1	A	2	2
SPAM1	6677	broad.mit.edu	36	7	123387166	123387166	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123387166A>C	uc003vle.1	+	c.1437A>C	c.(1435-1437)CAA>CAC	p.Q479H	SPAM1_uc003vld.1_Missense_Mutation_p.Q479H|SPAM1_uc003vlf.2_Missense_Mutation_p.Q479H|SPAM1_uc010lku.1_Missense_Mutation_p.Q479H	NM_003117	NP_003108	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 1	479					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)									0.44335	296.901917	297.471748	90	113	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123387166	123387166	15489	7	A	C	C	1	1	SPAM1	C	4	4
GPR37	2861	broad.mit.edu	36	7	124173898	124173898	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:124173898A>G	uc003vli.1	-	c.1759T>C	c.(1759-1761)TAC>CAC	p.Y587H		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37	587	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.222222	151.760441	170.250215	58	203	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124173898	124173898	6966	7	A	G	G	14	14	GPR37	G	4	4
POT1	25913	broad.mit.edu	36	7	124286303	124286303	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:124286303G>A	uc003vlm.1	-	c.646C>T	c.(646-648)CTG>TTG	p.L216L	POT1_uc003vlk.1_Non-coding_Transcript|POT1_uc003vll.1_Non-coding_Transcript|POT1_uc003vlo.1_Silent_p.L85L|POT1_uc003vln.1_Non-coding_Transcript	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	216					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)								0.187919	58.751381	72.308103	28	121	GG		KEEP	---	---	---	---	capture			Silent	SNP	124286303	124286303	12689	7	G	A	A	33	33	POT1	A	2	2
GRM8	2918	broad.mit.edu	36	7	125873415	125873415	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:125873415C>A	uc003vlr.2	-	c.2677_splice	c.e9+1	p.T893_splice	GRM8_uc003vls.2_Splice_Site_SNP|GRM8_uc003vlt.2_Missense_Mutation_p.S893I|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836			glutamate receptor, metabotropic 8 isoform a						negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.422222	444.398275	446.306561	152	208	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	125873415	125873415	7082	7	C	A	A	20	20	GRM8	A	5	3
GRM8	2918	broad.mit.edu	36	7	125960486	125960486	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:125960486C>T	uc003vlr.2	-	c.2186G>A	c.(2185-2187)CGG>CAG	p.R729Q	GRM8_uc003vls.2_3'UTR|GRM8_uc003vlt.2_Missense_Mutation_p.R729Q|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	729	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.443038	104.51271	104.736163	35	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125960486	125960486	7082	7	C	T	T	23	23	GRM8	T	1	1
GRM8	2918	broad.mit.edu	36	7	126670475	126670475	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:126670475C>T	uc003vlr.2	-	c.20G>A	c.(19-21)CGA>CAA	p.R7Q	GRM8_uc003vls.2_Missense_Mutation_p.R7Q|GRM8_uc003vlt.2_Missense_Mutation_p.R7Q|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	7					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)							OREG0003802	type=REGULATORY REGION|Gene=GRM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.453552	234.605274	234.948233	83	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126670475	126670475	7082	7	C	T	T	31	31	GRM8	T	1	1
ARL4A	10124	broad.mit.edu	36	7	12694851	12694851	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:12694851A>C	uc003ssp.1	+	c.447A>C	c.(445-447)AAA>AAC	p.K149N	ARL4A_uc003ssq.1_Missense_Mutation_p.K149N|ARL4A_uc003ssr.1_Missense_Mutation_p.K149N|ARL4A_uc003sss.1_Missense_Mutation_p.K149N|ARL4A_uc010ktu.1_Missense_Mutation_p.K149N	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	149					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding				0														0.419192	272.899868	274.026398	83	115	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	Missense_Mutation	SNP	12694851	12694851	953	7	A	C	C	4	4	ARL4A	C	4	4
ARF5	381	broad.mit.edu	36	7	127016809	127016809	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127016809C>T	uc003vmb.1	+	c.183C>T	c.(181-183)ATC>ATT	p.I61I	ARF5_uc010llb.1_Silent_p.I61I|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	61					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1														0.390135	253.868093	256.228135	87	136	CC		KEEP	---	---	---	---	capture			Silent	SNP	127016809	127016809	858	7	C	T	T	32	32	ARF5	T	2	2
ARF5	381	broad.mit.edu	36	7	127018333	127018333	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127018333C>T	uc003vmb.1	+	c.411C>T	c.(409-411)AGC>AGT	p.S137S	FSCN3_uc003vmc.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	137					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1														0.411003	340.432752	342.549107	127	182	CC		KEEP	---	---	---	---	capture			Silent	SNP	127018333	127018333	858	7	C	T	T	27	27	ARF5	T	1	1
FSCN3	29999	broad.mit.edu	36	7	127022744	127022744	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127022744C>T	uc003vmd.1	+	c.292C>T	c.(292-294)CGT>TGT	p.R98C	FSCN3_uc003vmc.1_Missense_Mutation_p.R53C|FSCN3_uc010llc.1_Missense_Mutation_p.R98C	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	98						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1														0.217687	63.921136	74.725557	32	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127022744	127022744	6319	7	C	T	T	27	27	FSCN3	T	1	1
SND1	27044	broad.mit.edu	36	7	127129732	127129732	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127129732C>T	uc003vmi.1	+	c.597C>T	c.(595-597)ATC>ATT	p.I199I		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	199	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)	2														0.199248	107.911987	130.310946	53	213	CC		KEEP	---	---	---	---	capture			Silent	SNP	127129732	127129732	15344	7	C	T	T	31	31	SND1	T	1	1
LRRC4	64101	broad.mit.edu	36	7	127456349	127456349	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127456349C>A	uc003vmk.1	-	c.1581G>T	c.(1579-1581)AAG>AAT	p.K527N	SND1_uc003vmi.1_Intron|SND1_uc010lle.1_Intron|LRRC4_uc010llf.1_Missense_Mutation_p.K527N	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	527	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4														0.266055	59.6089	65.013113	29	80	CC		KEEP	---	---	---	---	capture		Lung(243;0.124)	Missense_Mutation	SNP	127456349	127456349	9372	7	C	A	A	32	32	LRRC4	A	3	3
RBM28	55131	broad.mit.edu	36	7	127745008	127745008	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127745008C>T	uc003vmp.2	-	c.1728G>A	c.(1726-1728)GAG>GAA	p.E576E	RBM28_uc003vmo.2_Intron	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	576	RRM 4.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2														0.375	117.097351	118.524823	39	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	127745008	127745008	13590	7	C	T	T	20	20	RBM28	T	2	2
RBM28	55131	broad.mit.edu	36	7	127762944	127762944	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127762944T>C	uc003vmp.2	-	c.835A>G	c.(835-837)AAA>GAA	p.K279E	RBM28_uc003vmo.2_5'UTR	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	279					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2														0.184615	62.429345	74.549744	24	106	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127762944	127762944	13590	7	T	C	C	64	64	RBM28	C	4	4
IMPDH1	3614	broad.mit.edu	36	7	127822208	127822208	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127822208C>A	uc003vmu.2	-	c.1521G>T	c.(1519-1521)AAG>AAT	p.K507N	IMPDH1_uc003vmt.1_Missense_Mutation_p.K397N|IMPDH1_uc003vmw.2_Missense_Mutation_p.K497N|IMPDH1_uc003vmv.2_Missense_Mutation_p.K471N|IMPDH1_uc003vmx.2_Missense_Mutation_p.K430N|IMPDH1_uc003vmy.2_Missense_Mutation_p.K438N	NM_000883	NP_000874	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform a	422					GMP biosynthetic process|oxidation-reduction process|purine base metabolic process|response to stimulus|visual perception	cytosol	IMP dehydrogenase activity|metal ion binding			lung(1)|central_nervous_system(1)	2					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)									0.218391	65.442167	78.184983	38	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127822208	127822208	8027	7	C	A	A	32	32	IMPDH1	A	3	3
FAM71F2	346653	broad.mit.edu	36	7	128102952	128102952	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128102952G>T	uc003vnk.2	+	c.168G>T	c.(166-168)GAG>GAT	p.E56D	FAM71F2_uc010llm.1_Intron|FAM71F2_uc003vnl.2_Intron|FAM71F2_uc010lln.1_Intron	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	hypothetical protein LOC346653 isoform a	56											0														0.155556	21.08521	31.291769	14	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128102952	128102952	5837	7	G	T	T	35	35	FAM71F2	T	3	3
FAM71F1	84691	broad.mit.edu	36	7	128157212	128157212	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128157212G>T	uc003vno.1	+	c.874G>T	c.(874-876)GAC>TAC	p.D292Y	FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.D191Y|FAM71F1_uc003vnp.1_Missense_Mutation_p.D290Y	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	292											0														0.479508	321.631535	321.722115	117	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128157212	128157212	5836	7	G	T	T	33	33	FAM71F1	T	3	3
OPN1SW	611	broad.mit.edu	36	7	128199908	128199908	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128199908C>A	uc003vnt.2	-	c.969G>T	c.(967-969)ATG>ATT	p.M323I		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	323	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0														0.406504	132.303523	133.24869	50	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128199908	128199908	11286	7	C	A	A	29	29	OPN1SW	A	3	3
OPN1SW	611	broad.mit.edu	36	7	128201883	128201883	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128201883C>T	uc003vnt.2	-	c.592G>A	c.(592-594)GAG>AAG	p.E198K		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	198	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0														0.14881	34.860965	54.752694	25	143	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128201883	128201883	11286	7	C	T	T	31	31	OPN1SW	T	1	1
CCDC136	64753	broad.mit.edu	36	7	128232727	128232727	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128232727G>T	uc003vnv.1	+	c.861G>T	c.(859-861)ATG>ATT	p.M287I	CCDC136_uc003vnu.1_Missense_Mutation_p.M325I|CCDC136_uc003vnw.1_Missense_Mutation_p.M287I|CCDC136_uc003vnx.1_Missense_Mutation_p.M103I|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	287	Glu-rich.					integral to membrane	protein binding			ovary(2)	2														0.190476	91.340979	113.925739	48	204	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128232727	128232727	2890	7	G	T	T	47	47	CCDC136	T	3	3
CCDC136	64753	broad.mit.edu	36	7	128237568	128237568	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128237568G>A	uc003vnv.1	+	c.1940G>A	c.(1939-1941)CGA>CAA	p.R647Q	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.R463Q|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Missense_Mutation_p.R257Q	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	647						integral to membrane	protein binding			ovary(2)	2														0.253731	38.744884	42.432832	17	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128237568	128237568	2890	7	G	A	A	37	37	CCDC136	A	1	1
FLNC	2318	broad.mit.edu	36	7	128270152	128270152	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128270152G>A	uc003vnz.2	+	c.2458G>A	c.(2458-2460)GAC>AAC	p.D820N	FLNC_uc003voa.2_Missense_Mutation_p.D820N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	820	Filamin 6.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.141414	17.517537	29.774989	14	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128270152	128270152	6177	7	G	A	A	37	37	FLNC	A	1	1
FLNC	2318	broad.mit.edu	36	7	128273625	128273625	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128273625C>T	uc003vnz.2	+	c.3999C>T	c.(3997-3999)GTC>GTT	p.V1333V	FLNC_uc003voa.2_Silent_p.V1333V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1333	Filamin 11.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.271429	44.896545	48.193356	19	51	CC		KEEP	---	---	---	---	capture			Silent	SNP	128273625	128273625	6177	7	C	T	T	31	31	FLNC	T	1	1
FLNC	2318	broad.mit.edu	36	7	128281776	128281776	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128281776C>T	uc003vnz.2	+	c.6801C>T	c.(6799-6801)GTC>GTT	p.V2267V	FLNC_uc003voa.2_Silent_p.V2234V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2267	Filamin 20.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.37931	29.316722	29.68771	11	18	CC		KEEP	---	---	---	---	capture			Silent	SNP	128281776	128281776	6177	7	C	T	T	31	31	FLNC	T	1	1
SMO	6608	broad.mit.edu	36	7	128639503	128639503	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128639503T>G	uc003vor.1	+	c.2339T>G	c.(2338-2340)CTC>CGC	p.L780R	SMO_uc003vos.2_3'UTR	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened	780	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|negative regulation of gene-specific transcription from RNA polymerase II promoter|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(18)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	36										232				0.20297	95.36345	111.918886	41	161	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128639503	128639503	15300	7	T	G	G	54	54	SMO	G	4	4
FAM40B	57464	broad.mit.edu	36	7	128880332	128880332	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128880332C>T	uc003vox.1	+	c.438C>T	c.(436-438)GTC>GTT	p.V146V	FAM40B_uc003vow.1_Silent_p.V146V	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	146											0														0.413793	167.167987	168.110101	60	85	CC		KEEP	---	---	---	---	capture			Silent	SNP	128880332	128880332	5782	7	C	T	T	31	31	FAM40B	T	1	1
NRF1	4899	broad.mit.edu	36	7	129136286	129136286	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129136286C>A	uc003vpa.1	+	c.742C>A	c.(742-744)CGC>AGC	p.R248S	NRF1_uc003voz.1_Missense_Mutation_p.R248S|NRF1_uc003vpb.1_Missense_Mutation_p.R248S	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1														0.211196	192.94316	223.234251	83	310	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129136286	129136286	11051	7	C	A	A	23	23	NRF1	A	3	3
ZC3HC1	51530	broad.mit.edu	36	7	129450616	129450616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129450616G>A	uc003vpi.1	-	c.1204C>T	c.(1204-1206)CGA>TGA	p.R402*	ZC3HC1_uc003vph.1_Nonsense_Mutation_p.R246*|ZC3HC1_uc010lma.1_Intron	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	402	Nuclear localization signal.				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					Melanoma(115;540 1606 16325 28853 48167)								0.249147	160.833423	177.604276	73	220	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	129450616	129450616	18165	7	G	A	A	38	38	ZC3HC1	A	5	1
ZC3HC1	51530	broad.mit.edu	36	7	129468136	129468136	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129468136G>A	uc003vpi.1	-	c.300C>T	c.(298-300)CTC>CTT	p.L100L	ZC3HC1_uc003vph.1_5'UTR|ZC3HC1_uc010lma.1_5'UTR	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	100					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					Melanoma(115;540 1606 16325 28853 48167)								0.206186	205.816255	244.650358	100	385	GG		KEEP	---	---	---	---	capture			Silent	SNP	129468136	129468136	18165	7	G	A	A	37	37	ZC3HC1	A	1	1
TMEM209	84928	broad.mit.edu	36	7	129619816	129619816	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129619816G>A	uc003vpn.2	-	c.657C>T	c.(655-657)TAC>TAT	p.Y219Y	TMEM209_uc010lmc.1_Silent_p.Y219Y	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	transmembrane protein 209	219	Ser-rich.					integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)													0.464286	148.485619	148.6102	52	60	GG		KEEP	---	---	---	---	capture			Silent	SNP	129619816	129619816	16669	7	G	A	A	44	44	TMEM209	A	2	2
TMEM209	84928	broad.mit.edu	36	7	129631146	129631146	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129631146C>T	uc003vpn.2	-	c.44G>A	c.(43-45)AGA>AAA	p.R15K	TMEM209_uc010lmc.1_Missense_Mutation_p.R15K|TMEM209_uc003vpo.2_Missense_Mutation_p.R15K	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	transmembrane protein 209	15						integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)													0.389831	68.108757	68.737023	23	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129631146	129631146	16669	7	C	T	T	32	32	TMEM209	T	2	2
CPA2	1358	broad.mit.edu	36	7	129704914	129704914	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129704914C>T	uc003vpq.1	+	c.703C>T	c.(703-705)CGG>TGG	p.R235W		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	237		Substrate (By similarity).			proteolysis|vacuolar protein catabolic process	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.375	38.411705	38.961542	15	25	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129704914	129704914	3928	7	C	T	T	27	27	CPA2	T	1	1
CPA4	51200	broad.mit.edu	36	7	129720274	129720274	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129720274C>T	uc003vpr.1	+	c.18C>T	c.(16-18)TTC>TTT	p.F6F		NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	6					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.406824	414.024218	416.918651	155	226	CC		KEEP	---	---	---	---	capture			Silent	SNP	129720274	129720274	3930	7	C	T	T	29	29	CPA4	T	2	2
CPA4	51200	broad.mit.edu	36	7	129725833	129725833	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129725833T>G	uc003vpr.1	+	c.80T>G	c.(79-81)TTG>TGG	p.L27W		NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	27					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.470588	223.500874	223.602319	64	72	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129725833	129725833	3930	7	T	G	G	63	63	CPA4	G	4	4
CPA4	51200	broad.mit.edu	36	7	129726446	129726446	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129726446G>A	uc003vpr.1	+	c.251G>A	c.(250-252)GGC>GAC	p.G84D		NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	84					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.384615	183.028017	185.143712	70	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129726446	129726446	3930	7	G	A	A	42	42	CPA4	A	2	2
CPA4	51200	broad.mit.edu	36	7	129732981	129732981	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129732981C>T	uc003vpr.1	+	c.576C>T	c.(574-576)ATC>ATT	p.I192I		NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	192					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.187097	61.477872	75.696301	29	126	CC		KEEP	---	---	---	---	capture			Silent	SNP	129732981	129732981	3930	7	C	T	T	32	32	CPA4	T	2	2
CPA4	51200	broad.mit.edu	36	7	129737872	129737872	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129737872C>T	uc003vpr.1	+	c.803C>T	c.(802-804)GCC>GTC	p.A268V		NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	268					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.50289	245.722358	245.7237	87	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129737872	129737872	3930	7	C	T	T	26	26	CPA4	T	2	2
CPA4	51200	broad.mit.edu	36	7	129739158	129739158	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129739158G>A	uc003vpr.1	+	c.1038G>A	c.(1036-1038)TCG>TCA	p.S346S		NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	346					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.373016	131.894092	133.677699	47	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	129739158	129739158	3930	7	G	A	A	39	39	CPA4	A	1	1
CPA5	93979	broad.mit.edu	36	7	129788259	129788259	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129788259G>A	uc010lmd.1	+	c.472G>A	c.(472-474)GAT>AAT	p.D158N	CPA5_uc003vps.2_Missense_Mutation_p.D158N|CPA5_uc003vpt.2_Missense_Mutation_p.D158N|CPA5_uc010lme.1_Missense_Mutation_p.D158N|CPA5_uc003vpu.1_Missense_Mutation_p.D158N	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	158					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)													0.26087	82.330136	89.47932	36	102	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129788259	129788259	3931	7	G	A	A	37	37	CPA5	A	1	1
CPA1	1357	broad.mit.edu	36	7	129808875	129808875	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129808875G>A	uc003vpx.1	+	c.316G>A	c.(316-318)GCC>ACC	p.A106T	CPA1_uc003vpw.1_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	106					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.657143	121.556972	123.106624	46	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129808875	129808875	3927	7	G	A	A	38	38	CPA1	A	1	1
CPA1	1357	broad.mit.edu	36	7	129810805	129810805	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129810805C>T	uc003vpx.1	+	c.630C>T	c.(628-630)CTC>CTT	p.L210L	CPA1_uc003vpw.1_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	210					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.L210L(1)		ovary(1)	1	Melanoma(18;0.0435)													0.201031	76.121226	92.241795	39	155	CC		KEEP	---	---	---	---	capture			Silent	SNP	129810805	129810805	3927	7	C	T	T	31	31	CPA1	T	1	1
CPA1	1357	broad.mit.edu	36	7	129811630	129811630	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129811630G>A	uc003vpx.1	+	c.714G>A	c.(712-714)AAG>AAA	p.K238K	CPA1_uc003vpw.1_Silent_p.K72K	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	238					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.408602	217.524647	218.89171	76	110	GG		KEEP	---	---	---	---	capture			Silent	SNP	129811630	129811630	3927	7	G	A	A	33	33	CPA1	A	2	2
TSGA14	95681	broad.mit.edu	36	7	129827162	129827162	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129827162C>A	uc003vpz.1	-	c.927G>T	c.(925-927)AAG>AAT	p.K309N	TSGA14_uc003vpy.1_Missense_Mutation_p.K71N|TSGA14_uc010lmf.1_Missense_Mutation_p.K106N|TSGA14_uc003vqa.1_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	309					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)													0.183206	84.122726	108.829581	48	214	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129827162	129827162	17171	7	C	A	A	32	32	TSGA14	A	3	3
MEST	4232	broad.mit.edu	36	7	129925073	129925073	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129925073G>A	uc003vqg.1	+	c.322G>A	c.(322-324)GGC>AGC	p.G108S	MEST_uc003vqc.1_Missense_Mutation_p.G99S|MEST_uc003vqd.1_Missense_Mutation_p.G99S|MEST_uc003vqf.1_Missense_Mutation_p.G99S|MEST_uc010lmg.1_Missense_Mutation_p.G108S	NM_002402	NP_803491	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	108					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					Colon(126;2182 2305 6517 35181)								0.175853	129.281173	167.036513	67	314	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129925073	129925073	9873	7	G	A	A	47	47	MEST	A	2	2
MEST	4232	broad.mit.edu	36	7	129931066	129931066	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129931066C>T	uc003vqg.1	+	c.883C>T	c.(883-885)CTG>TTG	p.L295L	MEST_uc003vqc.1_Silent_p.L286L|MEST_uc003vqd.1_Silent_p.L252L|MEST_uc003vqf.1_Silent_p.L286L|MEST_uc010lmg.1_Intron	NM_002402	NP_803491	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	295					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					Colon(126;2182 2305 6517 35181)								0.228477	161.10014	181.539503	69	233	CC		KEEP	---	---	---	---	capture			Silent	SNP	129931066	129931066	9873	7	C	T	T	28	28	MEST	T	2	2
COPG2	26958	broad.mit.edu	36	7	129934889	129934889	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129934889G>A	uc003vqh.1	-	c.2259C>T	c.(2257-2259)CTC>CTT	p.L753L		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	753					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity				0	Melanoma(18;0.0435)													0.411765	175.698314	176.737733	63	90	GG		KEEP	---	---	---	---	capture			Silent	SNP	129934889	129934889	3870	7	G	A	A	37	37	COPG2	A	1	1
COPG2	26958	broad.mit.edu	36	7	129946475	129946475	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129946475C>T	uc003vqh.1	-	c.623G>A	c.(622-624)CGA>CAA	p.R208Q		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	208					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity				0	Melanoma(18;0.0435)													0.189394	47.699377	59.613235	25	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129946475	129946475	3870	7	C	T	T	31	31	COPG2	T	1	1
TSGA13	114960	broad.mit.edu	36	7	130019034	130019034	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:130019034A>T	uc003vqi.1	-	c.40T>A	c.(40-42)TCA>ACA	p.S14T	TSGA13_uc003vqj.1_Missense_Mutation_p.S14T	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	14										ovary(2)	2	Melanoma(18;0.0435)													0.217687	75.428634	86.22375	32	115	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130019034	130019034	17170	7	A	T	T	12	12	TSGA13	T	4	4
PLXNA4	91584	broad.mit.edu	36	7	131503864	131503864	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:131503864C>T	uc003vra.2	-	c.4025G>A	c.(4024-4026)GGC>GAC	p.G1342D		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1342	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.214286	31.301377	36.569055	15	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131503864	131503864	12548	7	C	T	T	26	26	PLXNA4	T	2	2
PLXNA4	91584	broad.mit.edu	36	7	131520748	131520748	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:131520748T>C	uc003vra.2	-	c.3008A>G	c.(3007-3009)TAC>TGC	p.Y1003C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1003	IPT/TIG 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.271277	154.964174	163.818226	51	137	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131520748	131520748	12548	7	T	C	C	57	57	PLXNA4	C	4	4
PLXNA4	91584	broad.mit.edu	36	7	131558840	131558840	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:131558840C>T	uc003vra.2	-	c.2083G>A	c.(2083-2085)GTG>ATG	p.V695M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	695	PSI 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.282609	30.553975	32.508216	13	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131558840	131558840	12548	7	C	T	T	20	20	PLXNA4	T	2	2
PLXNA4	91584	broad.mit.edu	36	7	131576437	131576437	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:131576437C>T	uc003vra.2	-	c.1532G>A	c.(1531-1533)GGT>GAT	p.G511D		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	511	PSI 1.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.22973	38.538432	43.493436	17	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131576437	131576437	12548	7	C	T	T	18	18	PLXNA4	T	2	2
PLXNA4	91584	broad.mit.edu	36	7	131843153	131843153	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:131843153G>A	uc003vra.2	-	c.840C>T	c.(838-840)CTC>CTT	p.L280L	PLXNA4_uc003vrc.2_Silent_p.L280L|PLXNA4_uc003vrb.1_Silent_p.L280L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	280	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.193277	43.85479	54.309122	23	96	GG		KEEP	---	---	---	---	capture			Silent	SNP	131843153	131843153	12548	7	G	A	A	37	37	PLXNA4	A	1	1
CHCHD3	54927	broad.mit.edu	36	7	132359886	132359886	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:132359886C>T	uc003vrf.1	-	c.211G>A	c.(211-213)GCA>ACA	p.A71T	CHCHD3_uc003vre.1_Missense_Mutation_p.A71T|CHCHD3_uc010lmi.1_Non-coding_Transcript|CHCHD3_uc010lmj.1_5'UTR	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain	71						mitochondrial inner membrane	protein binding				0														0.24	207.783502	230.91279	90	285	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	132359886	132359886	3451	7	C	T	T	26	26	CHCHD3	T	2	2
EXOC4	60412	broad.mit.edu	36	7	132815352	132815352	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:132815352C>T	uc003vrk.1	+	c.1337C>T	c.(1336-1338)TCG>TTG	p.S446L	EXOC4_uc003vri.2_Missense_Mutation_p.S446L|EXOC4_uc003vrj.1_Missense_Mutation_p.S446L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	446					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)	7		Esophageal squamous(399;0.129)												0.209302	91.457251	108.287045	45	170	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	132815352	132815352	5499	7	C	T	T	31	31	EXOC4	T	1	1
LRGUK	136332	broad.mit.edu	36	7	133472347	133472347	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:133472347C>T	uc003vrm.1	+	c.329C>T	c.(328-330)GCT>GTT	p.A110V		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	110							ATP binding|kinase activity			lung(2)|kidney(1)|skin(1)	4										973				0.139535	8.518398	13.918776	6	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	133472347	133472347	9316	7	C	T	T	28	28	LRGUK	T	2	2
SLC35B4	84912	broad.mit.edu	36	7	133635514	133635514	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:133635514C>A	uc003vrn.1	-	c.527G>T	c.(526-528)AGG>ATG	p.R176M	SLC35B4_uc010lmk.1_Missense_Mutation_p.R40M|SLC35B4_uc010lml.1_Missense_Mutation_p.R108M|SLC35B4_uc003vro.2_Missense_Mutation_p.R176M	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	176						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity				0														0.236607	115.743831	129.964392	53	171	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	133635514	133635514	15075	7	C	A	A	24	24	SLC35B4	A	3	3
AKR1B15	441282	broad.mit.edu	36	7	133904746	133904746	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:133904746C>A	uc003vrs.1	+	c.360C>A	c.(358-360)GCC>GCA	p.A120A	AKR1B15_uc003vrt.1_Silent_p.A92A|AKR1B15_uc003vru.1_Silent_p.A92A	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B10-like	120					oxidation-reduction process		oxidoreductase activity			ovary(1)	1														0.255924	123.139485	134.549063	54	157	CC		KEEP	---	---	---	---	capture			Silent	SNP	133904746	133904746	471	7	C	A	A	24	24	AKR1B15	A	3	3
STRA8	346673	broad.mit.edu	36	7	134578081	134578081	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134578081T>C	uc003vsq.1	+	c.267T>C	c.(265-267)GTT>GTC	p.V89V		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	89	Potential.				DNA replication	cytoplasm|nucleus	transcription regulator activity				0														0.193878	45.07461	53.641399	19	79	TT		KEEP	---	---	---	---	capture			Silent	SNP	134578081	134578081	15843	7	T	C	C	62	62	STRA8	C	4	4
CNOT4	4850	broad.mit.edu	36	7	134757561	134757561	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134757561G>A	uc003vst.1	-	c.256C>T	c.(256-258)CAA>TAA	p.Q86*	CNOT4_uc003vss.1_Nonsense_Mutation_p.Q86*|CNOT4_uc003vsu.1_Nonsense_Mutation_p.Q86*|CNOT4_uc003vsv.1_Nonsense_Mutation_p.Q86*	NM_013316	NP_037448	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	86	Potential.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						Ovarian(51;766 1130 5502 35047 50875)								0.200772	94.427017	116.019198	52	207	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	134757561	134757561	3759	7	G	A	A	48	48	CNOT4	A	5	2
CNOT4	4850	broad.mit.edu	36	7	134773481	134773481	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134773481T>C	uc003vst.1	-	c.139A>G	c.(139-141)ACT>GCT	p.T47A	CNOT4_uc003vss.1_Missense_Mutation_p.T47A|CNOT4_uc003vsu.1_Missense_Mutation_p.T47A|CNOT4_uc003vsv.1_Missense_Mutation_p.T47A	NM_013316	NP_037448	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	47	RING-type; degenerate.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						Ovarian(51;766 1130 5502 35047 50875)								0.228188	85.895621	95.978772	34	115	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134773481	134773481	3759	7	T	C	C	59	59	CNOT4	C	4	4
NUP205	23165	broad.mit.edu	36	7	134942071	134942071	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134942071C>T	uc003vsw.1	+	c.2938C>T	c.(2938-2940)CGT>TGT	p.R980C		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	980					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.214953	98.027305	114.085251	46	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134942071	134942071	11164	7	C	T	T	31	31	NUP205	T	1	1
NUP205	23165	broad.mit.edu	36	7	134951942	134951942	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134951942G>T	uc003vsw.1	+	c.3461_splice	c.e25-1	p.D1154_splice		NM_015135	NP_055950			nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.4	142.214566	143.39702	54	81	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	134951942	134951942	11164	7	G	T	T	33	33	NUP205	T	5	3
NUP205	23165	broad.mit.edu	36	7	134960617	134960617	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134960617G>T	uc003vsw.1	+	c.4645G>T	c.(4645-4647)GCA>TCA	p.A1549S	NUP205_uc003vsx.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1549					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.429268	252.080056	252.970376	88	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134960617	134960617	11164	7	G	T	T	34	34	NUP205	T	3	3
NUP205	23165	broad.mit.edu	36	7	134963373	134963373	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134963373G>A	uc003vsw.1	+	c.4906G>A	c.(4906-4908)GCC>ACC	p.A1636T	NUP205_uc003vsx.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1636					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.404181	301.841905	304.14337	116	171	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134963373	134963373	11164	7	G	A	A	42	42	NUP205	A	2	2
NUP205	23165	broad.mit.edu	36	7	134965704	134965704	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134965704T>C	uc003vsw.1	+	c.5005T>C	c.(5005-5007)TCT>CCT	p.S1669P	NUP205_uc003vsx.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1669					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.189076	104.447227	125.964028	45	193	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134965704	134965704	11164	7	T	C	C	58	58	NUP205	C	4	4
NUP205	23165	broad.mit.edu	36	7	134983722	134983722	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134983722G>T	uc003vsw.1	+	c.5917G>T	c.(5917-5919)GAA>TAA	p.E1973*	NUP205_uc003vsx.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1973					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.261146	92.80535	100.912901	41	116	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	134983722	134983722	11164	7	G	T	T	33	33	NUP205	T	5	3
SLC13A4	26266	broad.mit.edu	36	7	135056695	135056695	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:135056695G>T	uc003vtb.1	-	c.216C>A	c.(214-216)CTC>CTA	p.L72L	SLC13A4_uc003vta.1_Silent_p.L72L|SLC13A4_uc003vtc.1_Silent_p.L72L	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	72	Helical; (Potential).					integral to plasma membrane	sodium:sulfate symporter activity				0														0.242105	47.106763	52.852034	23	72	GG		KEEP	---	---	---	---	capture			Silent	SNP	135056695	135056695	14889	7	G	T	T	41	41	SLC13A4	T	3	3
FAM180A	389558	broad.mit.edu	36	7	135083831	135083831	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:135083831T>C	uc003vtd.1	-	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	FAM180A_uc010lmt.1_Non-coding_Transcript|FAM180A_uc010lmu.1_Missense_Mutation_p.Y13C	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	hypothetical protein LOC389558	13						extracellular region				ovary(2)	2														0.221774	286.985322	322.239627	110	386	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135083831	135083831	5713	7	T	C	C	57	57	FAM180A	C	4	4
DGKI	9162	broad.mit.edu	36	7	136822905	136822905	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:136822905G>A	uc003vtt.1	-	c.2373C>T	c.(2371-2373)CGC>CGT	p.R791R	DGKI_uc003vtu.1_Silent_p.R491R	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	791					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)	2														0.16573	104.894915	142.642689	59	297	GG		KEEP	---	---	---	---	capture			Silent	SNP	136822905	136822905	4650	7	G	A	A	42	42	DGKI	A	2	2
SVOPL	136306	broad.mit.edu	36	7	137961295	137961295	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:137961295C>T	uc003vue.1	-	c.766G>A	c.(766-768)GTA>ATA	p.V256I	SVOPL_uc003vud.1_Non-coding_Transcript	NM_174959	NP_777619	Q8N434	SVOPL_HUMAN	SVOP-like isoform 2	408					transmembrane transport	integral to membrane	transporter activity				0														0.447368	95.036099	95.21993	34	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137961295	137961295	15944	7	C	T	T	18	18	SVOPL	T	2	2
SVOPL	136306	broad.mit.edu	36	7	137962644	137962644	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:137962644C>T	uc003vue.1	-	c.716G>A	c.(715-717)TGC>TAC	p.C239Y	SVOPL_uc003vud.1_Non-coding_Transcript	NM_174959	NP_777619	Q8N434	SVOPL_HUMAN	SVOP-like isoform 2	391	Helical; (Potential).				transmembrane transport	integral to membrane	transporter activity				0														0.246753	39.482124	43.984233	19	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137962644	137962644	15944	7	C	T	T	25	25	SVOPL	T	2	2
ATP6V0A4	50617	broad.mit.edu	36	7	138064107	138064107	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138064107G>A	uc003vuf.1	-	c.1949C>T	c.(1948-1950)TCT>TTT	p.S650F	ATP6V0A4_uc003vug.1_Missense_Mutation_p.S650F|ATP6V0A4_uc003vuh.1_Missense_Mutation_p.S650F	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	650	Helical; (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1														0.505814	520.288531	520.297893	174	170	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138064107	138064107	1189	7	G	A	A	33	33	ATP6V0A4	A	2	2
ATP6V0A4	50617	broad.mit.edu	36	7	138106506	138106506	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138106506C>T	uc003vuf.1	-	c.27G>A	c.(25-27)GAG>GAA	p.E9E	ATP6V0A4_uc003vug.1_Silent_p.E9E|ATP6V0A4_uc003vuh.1_Silent_p.E9E	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	9	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1														0.439535	573.106059	574.477015	189	241	CC		KEEP	---	---	---	---	capture			Silent	SNP	138106506	138106506	1189	7	C	T	T	32	32	ATP6V0A4	T	2	2
TMEM213	155006	broad.mit.edu	36	7	138136627	138136627	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138136627A>G	uc010lna.1	+	c.98A>G	c.(97-99)AAC>AGC	p.N33S	TMEM213_uc010lnb.1_Missense_Mutation_p.N32S	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	transmembrane protein 213	33	Extracellular (Potential).					integral to membrane					0														0.113208	7.113265	14.936745	6	47	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138136627	138136627	16672	7	A	G	G	2	2	TMEM213	G	4	4
KIAA1549	57670	broad.mit.edu	36	7	138216807	138216807	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138216807C>T	uc003vuk.2	-	c.3946G>A	c.(3946-3948)GAC>AAC	p.D1316N	KIAA1549_uc003vul.2_Missense_Mutation_p.D188N	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670	1366						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.20979	64.134561	75.327599	30	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138216807	138216807	8553	7	C	T	T	32	32	KIAA1549	T	2	2
KIAA1549	57670	broad.mit.edu	36	7	138229803	138229803	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138229803C>A	uc003vuk.2	-	c.3707G>T	c.(3706-3708)AGG>ATG	p.R1236M	KIAA1549_uc003vul.2_Missense_Mutation_p.R108M	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670	1286						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.380531	112.389833	113.80705	43	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138229803	138229803	8553	7	C	A	A	24	24	KIAA1549	A	3	3
KIAA1549	57670	broad.mit.edu	36	7	138234343	138234343	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138234343C>A	uc003vuk.2	-	c.3595G>T	c.(3595-3597)GAA>TAA	p.E1199*	KIAA1549_uc003vul.2_Nonsense_Mutation_p.E71*	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670	1249						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)			p.E1199*(SNGM-Tumor)	967				0.181347	117.586709	154.459707	70	316	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	138234343	138234343	8553	7	C	A	A	32	32	KIAA1549	A	5	3
KIAA1549	57670	broad.mit.edu	36	7	138253441	138253441	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138253441C>T	uc003vuk.2	-	c.1321G>A	c.(1321-1323)GTC>ATC	p.V441I		NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670	491						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.180328	19.086426	24.95118	11	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138253441	138253441	8553	7	C	T	T	19	19	KIAA1549	T	1	1
KIAA1549	57670	broad.mit.edu	36	7	138253881	138253881	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138253881G>T	uc003vuk.2	-	c.881C>A	c.(880-882)ACT>AAT	p.T294N		NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670	344						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.199468	158.092592	189.705035	75	301	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138253881	138253881	8553	7	G	T	T	36	36	KIAA1549	T	3	3
KIAA1549	57670	broad.mit.edu	36	7	138254029	138254029	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138254029C>T	uc003vuk.2	-	c.733G>A	c.(733-735)GAC>AAC	p.D245N		NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670	295						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.396694	126.767904	127.899231	48	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138254029	138254029	8553	7	C	T	T	31	31	KIAA1549	T	1	1
KIAA1549	57670	broad.mit.edu	36	7	138254396	138254396	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138254396A>C	uc003vuk.2	-	c.366T>G	c.(364-366)GTT>GTG	p.V122V		NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670	172						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.188312	132.572164	160.57644	58	250	AA		KEEP	---	---	---	---	capture			Silent	SNP	138254396	138254396	8553	7	A	C	C	1	1	KIAA1549	C	4	4
ZC3HAV1	56829	broad.mit.edu	36	7	138414861	138414861	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138414861C>A	uc003vun.1	-	c.1366G>T	c.(1366-1368)GAA>TAA	p.E456*	ZC3HAV1_uc003vuo.1_5'Flank|ZC3HAV1_uc003vup.1_Nonsense_Mutation_p.E456*	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	456					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1														0.179487	68.089715	90.730875	42	192	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	138414861	138414861	18163	7	C	A	A	32	32	ZC3HAV1	A	5	3
TTC26	79989	broad.mit.edu	36	7	138483607	138483607	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138483607G>A	uc003vus.1	+	c.661G>A	c.(661-663)GCA>ACA	p.A221T	TTC26_uc003vuq.1_Missense_Mutation_p.A221T|TTC26_uc003vur.2_Missense_Mutation_p.A221T|TTC26_uc003vut.1_Missense_Mutation_p.A81T	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	221							binding			ovary(1)	1														0.218997	164.790569	192.326674	83	296	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138483607	138483607	17248	7	G	A	A	38	38	TTC26	A	1	1
UBN2	254048	broad.mit.edu	36	7	138618956	138618956	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138618956C>T	uc003vuu.2	+	c.2516C>T	c.(2515-2517)TCG>TTG	p.S839L		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	922	Ser-rich.									ovary(1)	1														0.186747	56.626878	71.89193	31	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138618956	138618956	17451	7	C	T	T	31	31	UBN2	T	1	1
C7orf55	154791	broad.mit.edu	36	7	138676707	138676707	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138676707G>T	uc003vuw.2	+	c.37G>T	c.(37-39)GGA>TGA	p.G13*		NM_197964	NP_932068	Q96HJ9	CG055_HUMAN	formation of mitochondrial complexes 1 homolog	13											0												OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.212121	66.641466	79.282667	35	130	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	138676707	138676707	2510	7	G	T	T	35	35	C7orf55	T	5	3
LUC7L2	51631	broad.mit.edu	36	7	138752892	138752892	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138752892G>A	uc003vux.1	+	c.878G>A	c.(877-879)CGA>CAA	p.R293Q	LUC7L2_uc003vuy.1_Missense_Mutation_p.R292Q|LUC7L2_uc003vva.1_Missense_Mutation_p.R240Q	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	293	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)													0.393333	157.482522	158.979206	59	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138752892	138752892	9459	7	G	A	A	37	37	LUC7L2	A	1	1
HIPK2	28996	broad.mit.edu	36	7	138955765	138955765	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138955765G>T	uc003vvf.2	-	c.1704C>A	c.(1702-1704)TTC>TTA	p.F568L	HIPK2_uc003vvd.2_Missense_Mutation_p.F568L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	568	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)								p.F568F(UMUC1-Tumor)	363		OREG0018361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.211009	138.486945	163.758588	69	258	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138955765	138955765	7402	7	G	T	T	45	45	HIPK2	T	3	3
ETV1	2115	broad.mit.edu	36	7	13906912	13906912	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:13906912G>A	uc003ssu.1	-	c.1188C>T	c.(1186-1188)TAC>TAT	p.Y396Y	ETV1_uc003sst.1_Non-coding_Transcript|ETV1_uc003ssv.2_Non-coding_Transcript|ETV1_uc003ssw.2_Silent_p.Y373Y|ETV1_uc003ssx.1_Non-coding_Transcript|ETV1_uc003ssy.1_Non-coding_Transcript	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1	396	ETS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|central_nervous_system(1)|lung(1)|ovary(1)	34										460				0.171429	12.026576	15.599923	6	29	GG		KEEP	---	---	---	---	capture			Silent	SNP	13906912	13906912	5470	7	G	A	A	36	36	ETV1	A	2	2
PARP12	64761	broad.mit.edu	36	7	139393240	139393240	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139393240C>T	uc003vvl.1	-	c.899G>A	c.(898-900)CGA>CAA	p.R300Q	PARP12_uc003vvk.1_Missense_Mutation_p.R86Q|PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	zinc finger CCCH-type domain containing 1	300	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)													0.210084	50.74693	59.979703	25	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139393240	139393240	11874	7	C	T	T	31	31	PARP12	T	1	1
PARP12	64761	broad.mit.edu	36	7	139404269	139404269	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139404269C>T	uc003vvl.1	-	c.361G>A	c.(361-363)GAA>AAA	p.E121K	PARP12_uc003vvk.1_5'Flank|PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	zinc finger CCCH-type domain containing 1	121						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)													0.206522	117.418024	139.459482	57	219	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139404269	139404269	11874	7	C	T	T	31	31	PARP12	T	1	1
SLC37A3	84255	broad.mit.edu	36	7	139681723	139681723	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139681723G>T	uc003vvo.1	-	c.1443C>A	c.(1441-1443)TTC>TTA	p.F481L	SLC37A3_uc003vvp.1_Missense_Mutation_p.L381I|SLC37A3_uc010lnh.1_Missense_Mutation_p.F465L|SLC37A3_uc003vvn.1_Missense_Mutation_p.F59L	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	481					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					Esophageal Squamous(133;211 1716 4665 11387 37873)								0.125	29.230087	63.341947	31	217	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139681723	139681723	15096	7	G	T	T	33	33	SLC37A3	T	3	3
MKRN1	23608	broad.mit.edu	36	7	139806078	139806078	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139806078C>T	uc003vvt.1	-	c.442G>A	c.(442-444)GAA>AAA	p.E148K	MKRN1_uc003vvs.1_Missense_Mutation_p.E84K|MKRN1_uc003vvu.2_Missense_Mutation_p.E84K|MKRN1_uc003vvv.2_Missense_Mutation_p.E148K	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	148							ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)													0.221277	113.173912	129.979121	52	183	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139806078	139806078	9996	7	C	T	T	31	31	MKRN1	T	1	1
DENND2A	27147	broad.mit.edu	36	7	139868276	139868276	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139868276G>A	uc010lnj.1	-	c.2759C>T	c.(2758-2760)TCG>TTG	p.S920L	DENND2A_uc010lnk.1_Missense_Mutation_p.S920L|DENND2A_uc003vvw.1_Missense_Mutation_p.S920L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	920	dDENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.457944	135.753834	135.919414	49	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139868276	139868276	4608	7	G	A	A	37	37	DENND2A	A	1	1
ETV1	2115	broad.mit.edu	36	7	13994257	13994257	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:13994257C>A	uc003ssu.1	-	c.112G>T	c.(112-114)GAT>TAT	p.D38Y	ETV1_uc003sst.1_5'Flank|ETV1_uc003ssv.2_Non-coding_Transcript|ETV1_uc003ssw.2_Missense_Mutation_p.D38Y|ETV1_uc003ssx.1_Non-coding_Transcript|ETV1_uc003ssy.1_Non-coding_Transcript|ETV1_uc010ktv.1_5'Flank|ETV1_uc010ktw.1_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1	38					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|central_nervous_system(1)|lung(1)|ovary(1)	34									p.D38Y(AU565-Tumor)|p.D38Y(SKBR3-Tumor)	460				0.180952	30.444047	40.517157	19	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13994257	13994257	5470	7	C	A	A	32	32	ETV1	A	3	3
DENND2A	27147	broad.mit.edu	36	7	139948520	139948520	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139948520C>T	uc010lnj.1	-	c.147G>A	c.(145-147)AAG>AAA	p.K49K	DENND2A_uc010lnk.1_Silent_p.K49K|DENND2A_uc003vvw.1_Silent_p.K49K|DENND2A_uc003vvx.2_Silent_p.K49K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	49										ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.490028	526.970021	527.000887	172	179	CC		KEEP	---	---	---	---	capture			Silent	SNP	139948520	139948520	4608	7	C	T	T	32	32	DENND2A	T	2	2
BRAF	673	broad.mit.edu	36	7	140140594	140140594	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:140140594C>A	uc003vwc.2	-	c.1123G>T	c.(1123-1125)GAA>TAA	p.E375*		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	375					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		KIAA1549/BRAF(211)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(7681)|large_intestine(4665)|skin(3221)|NS(366)|central_nervous_system(264)|ovary(219)|lung(77)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(27)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(16)|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)	16798	Melanoma(164;0.00956)				Sorafenib(DB00398)	Colon(40;35 892 2973 5743 27438)		61		451				0.20354	85.20875	103.668095	46	180	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	140140594	140140594	1527	7	C	A	A	32	32	BRAF	A	5	3
WEE2	494551	broad.mit.edu	36	7	141062495	141062495	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141062495G>T	uc003vwn.2	+	c.544G>T	c.(544-546)GAA>TAA	p.E182*	FLJ40852_uc010lnm.1_Intron|FLJ40852_uc010lnn.1_Intron|FLJ40852_uc003vwm.2_Intron|FLJ40852_uc010lno.1_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	182					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|protein phosphorylation|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)									241				0.161538	58.387241	86.747068	42	218	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	141062495	141062495	17919	7	G	T	T	41	41	WEE2	T	5	3
WEE2	494551	broad.mit.edu	36	7	141070531	141070531	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141070531A>C	uc003vwn.2	+	c.1208A>C	c.(1207-1209)GAG>GCG	p.E403A	FLJ40852_uc010lnm.1_Intron|FLJ40852_uc010lnn.1_Intron|FLJ40852_uc003vwm.2_Intron|FLJ40852_uc010lno.1_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	403	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|protein phosphorylation|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)									241				0.395349	197.759689	199.409283	68	104	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141070531	141070531	17919	7	A	C	C	11	11	WEE2	C	4	4
PRSS37	136242	broad.mit.edu	36	7	141183467	141183467	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141183467G>A	uc003vws.1	-	c.481C>T	c.(481-483)CGA>TGA	p.R161*	PRSS37_uc003vwt.1_Nonsense_Mutation_p.R148*	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	hypothetical protein LOC136242	161	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0														0.236559	96.606864	108.408088	44	142	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	141183467	141183467	13076	7	G	A	A	37	37	PRSS37	A	5	1
TAS2R38	5726	broad.mit.edu	36	7	141319238	141319238	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141319238C>T	uc003vwx.1	-	c.721G>A	c.(721-723)GCC>ACC	p.A241T		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	241	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)	1	Melanoma(164;0.0171)													0.207143	55.080949	66.228607	29	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141319238	141319238	16097	7	C	T	T	26	26	TAS2R38	T	2	2
MGAM	8972	broad.mit.edu	36	7	141394060	141394060	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141394060G>A	uc003vwy.1	+	c.2505G>A	c.(2503-2505)AAG>AAA	p.K835K		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	835	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)									0.494845	149.696258	149.698523	48	49	GG		KEEP	---	---	---	---	capture			Silent	SNP	141394060	141394060	9931	7	G	A	A	33	33	MGAM	A	2	2
MGAM	8972	broad.mit.edu	36	7	141404483	141404483	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141404483G>A	uc003vwy.1	+	c.3705G>A	c.(3703-3705)CGG>CGA	p.R1235R		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1235	Glucoamylase.|Lumenal (Potential).				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)									0.209763	329.497099	388.616584	159	599	GG		KEEP	---	---	---	---	capture			Silent	SNP	141404483	141404483	9931	7	G	A	A	42	42	MGAM	A	2	2
MGAM	8972	broad.mit.edu	36	7	141411648	141411648	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141411648G>A	uc003vwy.1	+	c.4529G>A	c.(4528-4530)CGC>CAC	p.R1510H		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1510	Glucoamylase.|Lumenal (Potential).				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)									0.208333	9.259846	11.153165	5	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141411648	141411648	9931	7	G	A	A	38	38	MGAM	A	1	1
TRYX3	136541	broad.mit.edu	36	7	141598885	141598885	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141598885G>A	uc003vxb.1	-	c.461C>T	c.(460-462)ACT>ATT	p.T154I	TRYX3_uc003vxc.2_Missense_Mutation_p.T154I	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3	154	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)													0.190083	83.38992	105.14975	46	196	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141598885	141598885	17155	7	G	A	A	36	36	TRYX3	A	2	2
TRYX3	136541	broad.mit.edu	36	7	141601915	141601915	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141601915G>A	uc003vxb.1	-	c.96C>T	c.(94-96)GTC>GTT	p.V32V	TRYX3_uc003vxc.2_Silent_p.V32V	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3	32	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)													0.214689	84.7444	98.054896	38	139	GG		KEEP	---	---	---	---	capture			Silent	SNP	141601915	141601915	17155	7	G	A	A	33	33	TRYX3	A	2	2
EPHB6	2051	broad.mit.edu	36	7	142271969	142271969	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142271969C>T	uc003wbq.1	+	c.244C>T	c.(244-246)CGG>TGG	p.R82W	EPHB6_uc003wbr.1_Missense_Mutation_p.R82W|EPHB6_uc003wbs.1_5'UTR|EPHB6_uc003wbt.1_5'UTR|EPHB6_uc003wbu.1_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	97	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.443325	476.900398	477.996339	176	221	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142271969	142271969	5371	7	C	T	T	27	27	EPHB6	T	1	1
EPHB6	2051	broad.mit.edu	36	7	142272142	142272142	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142272142G>T	uc003wbq.1	+	c.417G>T	c.(415-417)AAG>AAT	p.K139N	EPHB6_uc003wbr.1_Missense_Mutation_p.K139N|EPHB6_uc003wbs.1_De_novo_Start_OutOfFrame|EPHB6_uc003wbt.1_5'UTR|EPHB6_uc003wbu.1_De_novo_Start_OutOfFrame	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	154	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.K139N(1)		lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.24031	129.20229	145.101295	62	196	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142272142	142272142	5371	7	G	T	T	35	35	EPHB6	T	3	3
EPHB6	2051	broad.mit.edu	36	7	142272468	142272468	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142272468T>C	uc003wbq.1	+	c.743T>C	c.(742-744)GTG>GCG	p.V248A	EPHB6_uc003wbr.1_Missense_Mutation_p.V248A|EPHB6_uc003wbs.1_5'UTR|EPHB6_uc003wbt.1_5'UTR|EPHB6_uc003wbu.1_5'UTR|EPHB6_uc003wbv.1_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	263	Extracellular (Potential).|Cys-rich.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.441489	227.21171	227.783157	83	105	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142272468	142272468	5371	7	T	C	C	59	59	EPHB6	C	4	4
TRPV5	56302	broad.mit.edu	36	7	142319913	142319913	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142319913C>T	uc003wby.1	-	c.1645G>A	c.(1645-1647)GTG>ATG	p.V549M		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	549					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.225	75.615842	86.735887	36	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142319913	142319913	17150	7	C	T	T	19	19	TRPV5	T	1	1
C7orf34	135927	broad.mit.edu	36	7	142347775	142347775	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142347775C>A	uc003wca.2	+	c.348C>A	c.(346-348)CTC>CTA	p.L116L		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	116						extracellular region					0	Melanoma(164;0.059)													0.201794	85.630557	104.077333	45	178	CC		KEEP	---	---	---	---	capture			Silent	SNP	142347775	142347775	2496	7	C	A	A	32	32	C7orf34	A	3	3
KEL	3792	broad.mit.edu	36	7	142361579	142361579	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142361579G>T	uc003wcb.1	-	c.738C>A	c.(736-738)ATC>ATA	p.I246I		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	246	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.182266	61.836725	81.107485	37	166	GG		KEEP	---	---	---	---	capture			Silent	SNP	142361579	142361579	8448	7	G	T	T	33	33	KEL	T	3	3
KEL	3792	broad.mit.edu	36	7	142365133	142365133	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142365133C>T	uc003wcb.1	-	c.575G>A	c.(574-576)CGA>CAA	p.R192Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	192	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.41	110.543346	111.253425	41	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142365133	142365133	8448	7	C	T	T	31	31	KEL	T	1	1
GSTK1	373156	broad.mit.edu	36	7	142671780	142671780	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142671780C>A	uc003wcj.1	+	c.172C>A	c.(172-174)CTG>ATG	p.L58M	GSTK1_uc003wci.1_Missense_Mutation_p.L58M	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1 isoform a	58						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity				0	Melanoma(164;0.059)				Glutathione(DB00143)									0.43578	503.127302	504.703338	190	246	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142671780	142671780	7116	7	C	A	A	32	32	GSTK1	A	3	3
CLCN1	1180	broad.mit.edu	36	7	142758954	142758954	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142758954C>A	uc003wcr.1	+	c.2741C>A	c.(2740-2742)CCT>CAT	p.P914H		NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	914	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.408537	174.986346	176.185839	67	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142758954	142758954	3598	7	C	A	A	24	24	CLCN1	A	3	3
TAS2R60	338398	broad.mit.edu	36	7	142850957	142850957	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142850957C>T	uc003wdb.1	+	c.290C>T	c.(289-291)GCT>GTT	p.A97V		NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	97	Helical; Name=3; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity				0	Melanoma(164;0.172)													0.216667	191.418882	222.509918	91	329	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142850957	142850957	16107	7	C	T	T	28	28	TAS2R60	T	2	2
FAM115A	9747	broad.mit.edu	36	7	143204544	143204544	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143204544G>T	uc003wdo.1	-	c.91C>A	c.(91-93)CTT>ATT	p.L31I	FAM115A_uc003wdp.1_Missense_Mutation_p.L31I	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	31											0	Melanoma(164;0.0903)													0.165644	40.615574	57.918648	27	136	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143204544	143204544	5602	7	G	T	T	33	33	FAM115A	T	3	3
OR6B1	135946	broad.mit.edu	36	7	143332450	143332450	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143332450G>A	uc003wdt.1	+	c.428G>A	c.(427-429)CGC>CAC	p.R143H		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)													0.527778	206.071565	206.16696	76	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143332450	143332450	11597	7	G	A	A	38	38	OR6B1	A	1	1
OR2A25	392138	broad.mit.edu	36	7	143402273	143402273	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143402273G>T	uc003wdv.1	+	c.28G>T	c.(28-30)GAG>TAG	p.E10*		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.214559	113.145227	132.793834	56	205	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	143402273	143402273	11384	7	G	T	T	33	33	OR2A25	T	5	3
OR2A2	442361	broad.mit.edu	36	7	143437840	143437840	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143437840C>A	uc003wdx.1	+	c.232C>A	c.(232-234)CCC>ACC	p.P78T		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.196653	174.835237	215.865716	94	384	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143437840	143437840	11383	7	C	A	A	30	30	OR2A2	A	3	3
CNTNAP2	26047	broad.mit.edu	36	7	146371979	146371979	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:146371979A>G	uc003weu.1	+	c.450A>G	c.(448-450)TTA>TTG	p.L150L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	150	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.182796	124.791662	151.119087	51	228	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Silent	SNP	146371979	146371979	3785	7	A	G	G	14	14	CNTNAP2	G	4	4
CNTNAP2	26047	broad.mit.edu	36	7	146723737	146723737	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:146723737C>T	uc003weu.1	+	c.1602C>T	c.(1600-1602)TAC>TAT	p.Y534Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	534	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.223844	194.617362	223.412702	92	319	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Silent	SNP	146723737	146723737	3785	7	C	T	T	19	19	CNTNAP2	T	1	1
DGKB	1607	broad.mit.edu	36	7	14691492	14691492	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:14691492C>T	uc003ssz.1	-	c.732G>A	c.(730-732)CAG>CAA	p.Q244Q	DGKB_uc003sta.1_Silent_p.Q244Q	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	244	Phorbol-ester/DAG-type 1.				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|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)					800				0.43617	119.449897	119.784726	41	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	14691492	14691492	4645	7	C	T	T	28	28	DGKB	T	2	2
CNTNAP2	26047	broad.mit.edu	36	7	146967300	146967300	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:146967300C>A	uc003weu.1	+	c.2067C>A	c.(2065-2067)TTC>TTA	p.F689L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	689	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.438596	136.223173	136.599466	50	64	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Missense_Mutation	SNP	146967300	146967300	3785	7	C	A	A	32	32	CNTNAP2	A	3	3
CNTNAP2	26047	broad.mit.edu	36	7	147231687	147231687	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:147231687C>T	uc003weu.1	+	c.2196C>T	c.(2194-2196)ATC>ATT	p.I732I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	732	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.I732I(1)		ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.164384	20.653657	28.462536	12	61	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Silent	SNP	147231687	147231687	3785	7	C	T	T	31	31	CNTNAP2	T	1	1
CNTNAP2	26047	broad.mit.edu	36	7	147743488	147743488	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:147743488C>A	uc003weu.1	+	c.3843C>A	c.(3841-3843)TTC>TTA	p.F1281L	CNTNAP2_uc003wev.1_Missense_Mutation_p.F58L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1281	Helical; (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.448529	162.641624	162.957471	61	75	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Missense_Mutation	SNP	147743488	147743488	3785	7	C	A	A	30	30	CNTNAP2	A	3	3
C7orf33	202865	broad.mit.edu	36	7	147919128	147919128	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:147919128T>G	uc003wew.1	+	c.178T>G	c.(178-180)TTG>GTG	p.L60V		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	60											0	Melanoma(164;0.15)													0.321267	191.886866	198.191849	71	150	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		Missense_Mutation	SNP	147919128	147919128	2495	7	T	G	G	56	56	C7orf33	G	4	4
CUL1	8454	broad.mit.edu	36	7	148085071	148085071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148085071C>T	uc010lpg.1	+	c.379C>T	c.(379-381)CGA>TGA	p.R127*	CUL1_uc003wey.1_Nonsense_Mutation_p.R127*|CUL1_uc003wez.1_Nonsense_Mutation_p.R17*	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	127					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)													0.433673	239.24914	239.999352	85	111	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		Nonsense_Mutation	SNP	148085071	148085071	4214	7	C	T	T	31	31	CUL1	T	5	1
CUL1	8454	broad.mit.edu	36	7	148085174	148085174	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148085174C>T	uc010lpg.1	+	c.482C>T	c.(481-483)TCG>TTG	p.S161L	CUL1_uc003wey.1_Missense_Mutation_p.S161L|CUL1_uc003wez.1_Missense_Mutation_p.S51L	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)													0.240741	58.705654	65.324017	26	82	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		Missense_Mutation	SNP	148085174	148085174	4214	7	C	T	T	31	31	CUL1	T	1	1
CUL1	8454	broad.mit.edu	36	7	148115133	148115133	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148115133C>A	uc010lpg.1	+	c.1467C>A	c.(1465-1467)ATC>ATA	p.I489I	CUL1_uc003wey.1_Silent_p.I489I|CUL1_uc003wez.1_Silent_p.I379I|CUL1_uc003wfa.1_Silent_p.I150I	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	489					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)													0.244898	77.517282	86.241028	36	111	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		Silent	SNP	148115133	148115133	4214	7	C	A	A	32	32	CUL1	A	3	3
EZH2	2146	broad.mit.edu	36	7	148139694	148139694	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148139694C>A	uc003wfb.1	-	c.1903G>T	c.(1903-1905)GAT>TAT	p.D635Y	EZH2_uc003wfc.1_Missense_Mutation_p.D591Y|EZH2_uc003wfd.1_Missense_Mutation_p.D630Y	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	630	SET.				negative regulation of retinoic acid receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding|transcription repressor activity			haematopoietic_and_lymphoid_tissue(169)|skin(2)|large_intestine(1)	172	Melanoma(164;0.15)													0.211009	42.568983	50.991493	23	86	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		Missense_Mutation	SNP	148139694	148139694	5528	7	C	A	A	32	32	EZH2	A	3	3
ZNF425	155054	broad.mit.edu	36	7	148431739	148431739	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148431739C>A	uc003wfj.1	-	c.2157G>T	c.(2155-2157)GAG>GAT	p.E719D		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)													0.441341	208.676797	209.216744	79	100	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		Missense_Mutation	SNP	148431739	148431739	18492	7	C	A	A	32	32	ZNF425	A	3	3
ZNF425	155054	broad.mit.edu	36	7	148433555	148433555	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148433555C>T	uc003wfj.1	-	c.341G>A	c.(340-342)TGC>TAC	p.C114Y		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)													0.433333	207.203329	207.90399	78	102	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		Missense_Mutation	SNP	148433555	148433555	18492	7	C	T	T	25	25	ZNF425	T	2	2
ZNF398	57541	broad.mit.edu	36	7	148507423	148507423	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148507423G>A	uc003wfl.1	+	c.1526G>A	c.(1525-1527)CGT>CAT	p.R509H	ZNF398_uc003wfk.1_Missense_Mutation_p.R338H	NM_170686	NP_065832	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)													0.48	162.981369	163.025203	60	65	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		Missense_Mutation	SNP	148507423	148507423	18478	7	G	A	A	40	40	ZNF398	A	1	1
ZNF282	8427	broad.mit.edu	36	7	148541812	148541812	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148541812G>A	uc003wfm.1	+	c.1153G>A	c.(1153-1155)GGA>AGA	p.G385R	ZNF282_uc003wfn.2_Missense_Mutation_p.G325R|ZNF282_uc003wfo.2_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding				0	Melanoma(164;0.15)													0.19	40.366589	49.353519	19	81	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	Missense_Mutation	SNP	148541812	148541812	18411	7	G	A	A	39	39	ZNF282	A	1	1
ZNF212	7988	broad.mit.edu	36	7	148578374	148578374	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148578374C>T	uc003wfp.1	+	c.216C>T	c.(214-216)GCC>GCT	p.A72A		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)													0.167598	57.18352	75.889413	30	149	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		Silent	SNP	148578374	148578374	18359	7	C	T	T	23	23	ZNF212	T	1	1
ZNF777	27153	broad.mit.edu	36	7	148760275	148760275	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148760275C>T	uc003wfv.1	-	c.2021G>A	c.(2020-2022)CGC>CAC	p.R674H		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	674	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)													0.47541	307.541782	307.672233	116	128	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		Missense_Mutation	SNP	148760275	148760275	18748	7	C	T	T	27	27	ZNF777	T	1	1
ZNF746	155061	broad.mit.edu	36	7	148822426	148822426	+	Silent	SNP	G	A	A	rs61734989	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148822426G>A	uc010lpi.1	-	c.126C>T	c.(124-126)GCC>GCT	p.A42A	ZNF746_uc003wfw.1_Silent_p.A42A	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746	42	Potential.				neuron death|regulation of cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	promoter binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)													0.516981	418.595433	418.663549	137	128	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		Silent	SNP	148822426	148822426	18727	7	G	A	A	39	39	ZNF746	A	1	1
SSPO	23145	broad.mit.edu	36	7	149111303	149111303	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149111303G>A	uc010lpk.1	+	c.2252G>A	c.(2251-2253)CGC>CAC	p.R751H	SSPO_uc010lpl.1_Missense_Mutation_p.R86H	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin	751	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)													0.206612	46.210008	55.869694	25	96	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		Missense_Mutation	SNP	149111303	149111303	15705	7	G	A	A	38	38	SSPO	A	1	1
SSPO	23145	broad.mit.edu	36	7	149114123	149114123	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149114123G>A	uc010lpk.1	+	c.3258G>A	c.(3256-3258)ACG>ACA	p.T1086T	SSPO_uc010lpl.1_Silent_p.T336T	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin	1086	VWFD 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)													0.235294	19.482731	21.661884	8	26	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		Silent	SNP	149114123	149114123	15705	7	G	A	A	39	39	SSPO	A	1	1
SSPO	23145	broad.mit.edu	36	7	149139707	149139707	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149139707C>T	uc010lpk.1	+	c.9513C>T	c.(9511-9513)ATC>ATT	p.I3171I		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin	3171					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)													0.174107	68.309992	90.750948	39	185	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		Silent	SNP	149139707	149139707	15705	7	C	T	T	31	31	SSPO	T	1	1
SSPO	23145	broad.mit.edu	36	7	149145967	149145967	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149145967C>T	uc010lpk.1	+	c.11424C>T	c.(11422-11424)TTC>TTT	p.F3808F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin	3808					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)													0.473684	127.863103	127.920606	45	50	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		Silent	SNP	149145967	149145967	15705	7	C	T	T	31	31	SSPO	T	1	1
LRRC61	65999	broad.mit.edu	36	7	149665421	149665421	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149665421G>A	uc003wgw.1	+	c.538G>A	c.(538-540)GAC>AAC	p.D180N	LRRC61_uc003wgv.1_3'UTR|LRRC61_uc003wgx.1_Missense_Mutation_p.D180N|LRRC61_uc003wgz.2_Missense_Mutation_p.D180N	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	180											0														0.177966	38.101816	49.628285	21	97	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.011)		Missense_Mutation	SNP	149665421	149665421	9392	7	G	A	A	41	41	LRRC61	A	2	2
GIMAP8	155038	broad.mit.edu	36	7	149795304	149795304	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149795304G>A	uc003whj.1	+	c.585G>A	c.(583-585)ACG>ACA	p.T195T		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	195						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3														0.370192	206.405371	209.490637	77	131	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	Silent	SNP	149795304	149795304	6653	7	G	A	A	37	37	GIMAP8	A	1	1
GIMAP8	155038	broad.mit.edu	36	7	149802331	149802331	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149802331C>T	uc003whj.1	+	c.981C>T	c.(979-981)TTC>TTT	p.F327F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	327						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3														0.184358	65.161993	81.897985	33	146	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	Silent	SNP	149802331	149802331	6653	7	C	T	T	30	30	GIMAP8	T	2	2
GIMAP7	168537	broad.mit.edu	36	7	149848600	149848600	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149848600C>T	uc003whk.1	+	c.605C>T	c.(604-606)TCT>TTT	p.S202F	GIMAP7_uc010lpt.1_Missense_Mutation_p.S202F	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	202							GTP binding			pancreas(1)	1														0.434426	157.251053	157.709469	53	69	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	149848600	149848600	6652	7	C	T	T	32	32	GIMAP7	T	2	2
GIMAP2	26157	broad.mit.edu	36	7	150020457	150020457	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150020457G>A	uc003who.1	+	c.150G>A	c.(148-150)TCG>TCA	p.S50S	GIMAP1_uc003whp.1_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	50						integral to membrane	GTP binding				0														0.221429	66.753773	76.751216	31	109	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Silent	SNP	150020457	150020457	6648	7	G	A	A	37	37	GIMAP2	A	1	1
GIMAP1	170575	broad.mit.edu	36	7	150048473	150048473	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150048473G>A	uc003whp.1	+	c.472G>A	c.(472-474)GTC>ATC	p.V158I	GIMAP1_uc003whq.1_Missense_Mutation_p.V150I	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	150	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3														0.479042	212.959724	213.024578	80	87	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150048473	150048473	6647	7	G	A	A	40	40	GIMAP1	A	1	1
TMEM176B	28959	broad.mit.edu	36	7	150120152	150120152	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150120152G>T	uc003wht.2	-	c.645C>A	c.(643-645)GTC>GTA	p.V215V	TMEM176B_uc003whu.2_Silent_p.V215V|TMEM176B_uc003whv.2_Silent_p.V178V|TMEM176B_uc003whw.2_Silent_p.V215V	NM_001101313	NP_054739	Q3YBM2	T176B_HUMAN	transmembrane protein 176B isoform a	215	Helical; (Potential).				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				ovary(1)	1														0.380952	141.051298	142.882421	56	91	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Silent	SNP	150120152	150120152	16627	7	G	T	T	33	33	TMEM176B	T	3	3
ABP1	26	broad.mit.edu	36	7	150185071	150185071	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150185071T>G	uc003wia.1	+	c.580T>G	c.(580-582)TCT>GCT	p.S194A	ABP1_uc003why.1_Missense_Mutation_p.S194A|ABP1_uc003whz.1_Missense_Mutation_p.S194A	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	194					amine metabolic process|oxidation-reduction process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)	4	all_neural(206;0.219)				Amiloride(DB00594)|Spermine(DB00127)	Pancreas(195;1227 3054 24912 28503)								0.160976	65.263452	87.688416	33	172	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150185071	150185071	99	7	T	G	G	62	62	ABP1	G	4	4
ABP1	26	broad.mit.edu	36	7	150185417	150185417	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150185417G>A	uc003wia.1	+	c.926G>A	c.(925-927)CGC>CAC	p.R309H	ABP1_uc003why.1_Missense_Mutation_p.R309H|ABP1_uc003whz.1_Missense_Mutation_p.R309H	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	309					amine metabolic process|oxidation-reduction process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)	4	all_neural(206;0.219)				Amiloride(DB00594)|Spermine(DB00127)	Pancreas(195;1227 3054 24912 28503)								0.208791	36.475414	43.62296	19	72	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150185417	150185417	99	7	G	A	A	38	38	ABP1	A	1	1
ABP1	26	broad.mit.edu	36	7	150186993	150186993	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150186993C>T	uc003wia.1	+	c.1780C>T	c.(1780-1782)CGC>TGC	p.R594C	ABP1_uc003why.1_Missense_Mutation_p.R594C|ABP1_uc003whz.1_Missense_Mutation_p.R594C	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	594					amine metabolic process|oxidation-reduction process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)	4	all_neural(206;0.219)				Amiloride(DB00594)|Spermine(DB00127)	Pancreas(195;1227 3054 24912 28503)								0.37037	26.943389	27.341829	10	17	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150186993	150186993	99	7	C	T	T	23	23	ABP1	T	1	1
NOS3	4846	broad.mit.edu	36	7	150326444	150326444	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150326444T>C	uc003wif.1	+	c.649T>C	c.(649-651)TAT>CAT	p.Y217H		NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	217	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)	7	all_neural(206;0.219)				L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)					755				0.230769	24.099698	26.658714	9	30	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150326444	150326444	10947	7	T	C	C	57	57	NOS3	C	4	4
ABCB8	11194	broad.mit.edu	36	7	150359272	150359272	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150359272G>A	uc003wil.2	+	c.107G>A	c.(106-108)CGT>CAT	p.R36H	ABCB8_uc003wii.2_Intron|ABCB8_uc003wij.2_Intron|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.1_Intron|ABCB8_uc003wim.2_Intron|ABCB8_uc003wik.2_Intron	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	36						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)	2														0.25	11.464836	12.601636	5	15	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150359272	150359272	48	7	G	A	A	40	40	ABCB8	A	1	1
ABCB8	11194	broad.mit.edu	36	7	150368620	150368620	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150368620C>T	uc003wil.2	+	c.1405C>T	c.(1405-1407)CGT>TGT	p.R469C	ABCB8_uc010lpw.1_Missense_Mutation_p.R341C|ABCB8_uc010lpx.1_Missense_Mutation_p.R452C|ABCB8_uc003wim.2_Missense_Mutation_p.R247C|ABCB8_uc003wik.2_Missense_Mutation_p.R452C	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	469						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)	2														0.199153	87.158616	106.996756	47	189	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150368620	150368620	48	7	C	T	T	27	27	ABCB8	T	1	1
SLC4A2	6522	broad.mit.edu	36	7	150402118	150402118	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150402118C>T	uc003wit.2	+	c.2595C>T	c.(2593-2595)GGC>GGT	p.G865G	SLC4A2_uc003wiu.2_Silent_p.G851G|SLC4A2_uc003wiv.2_Silent_p.G59G	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	865	Membrane (anion exchange).|Extracellular (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0										2				0.22	66.298411	77.130223	33	117	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Silent	SNP	150402118	150402118	15151	7	C	T	T	27	27	SLC4A2	T	1	1
AGAP3	116988	broad.mit.edu	36	7	150470056	150470056	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150470056G>A	uc003wjg.1	+	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H	AGAP3_uc003wje.1_Missense_Mutation_p.R317H|AGAP3_uc003wjj.1_Missense_Mutation_p.R147H|AGAP3_uc003wjk.1_Missense_Mutation_p.R66H	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	612					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3														0.180645	49.509854	64.372797	28	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150470056	150470056	371	7	G	A	A	38	38	AGAP3	A	1	1
GBX1	2636	broad.mit.edu	36	7	150476999	150476999	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150476999C>T	uc010lpz.1	-	c.702G>A	c.(700-702)CCG>CCA	p.P234P		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	234					regulation of transcription, DNA-dependent	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.208791	191.864561	227.606274	95	360	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Silent	SNP	150476999	150476999	6546	7	C	T	T	31	31	GBX1	T	1	1
GBX1	2636	broad.mit.edu	36	7	150477153	150477153	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150477153T>G	uc010lpz.1	-	c.548A>C	c.(547-549)AAG>ACG	p.K183T		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	183					regulation of transcription, DNA-dependent	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.191257	221.29353	270.301802	105	444	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150477153	150477153	6546	7	T	G	G	56	56	GBX1	G	4	4
ASB10	136371	broad.mit.edu	36	7	150515020	150515020	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150515020C>T	uc003wjm.1	-	c.266G>A	c.(265-267)GGA>GAA	p.G89E	ASB10_uc003wjl.1_Missense_Mutation_p.G44E|ASB10_uc003wjn.1_Intron	NM_080871	NP_543147	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	44					intracellular signal transduction						0														0.477612	91.992705	92.021972	32	35	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150515020	150515020	1032	7	C	T	T	30	30	ASB10	T	2	2
SMARCD3	6604	broad.mit.edu	36	7	150570228	150570228	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150570228G>T	uc003wjs.1	-	c.603C>A	c.(601-603)TTC>TTA	p.F201L	SMARCD3_uc003wjt.1_Missense_Mutation_p.F188L|SMARCD3_uc003wju.1_Missense_Mutation_p.F188L|SMARCD3_uc010lqa.1_Missense_Mutation_p.F201L	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	201					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding|transcription regulator activity			ovary(1)|lung(1)	2														0.255952	90.733609	99.820194	43	125	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150570228	150570228	15277	7	G	T	T	33	33	SMARCD3	T	3	3
CRYGN	155051	broad.mit.edu	36	7	150766213	150766213	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150766213G>A	uc003wke.1	-	c.72C>T	c.(70-72)TTC>TTT	p.F24F	CRYGN_uc003wkf.1_Silent_p.F24F|CRYGN_uc003wkg.1_Non-coding_Transcript|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	24	Beta/gamma crystallin 'Greek key' 1.										0														0.307229	124.652034	130.160118	51	115	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Silent	SNP	150766213	150766213	4057	7	G	A	A	37	37	CRYGN	A	1	1
PRKAG2	51422	broad.mit.edu	36	7	150893366	150893366	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150893366A>C	uc003wkk.1	-	c.1436T>G	c.(1435-1437)ATT>AGT	p.I479S	PRKAG2_uc003wkj.1_Missense_Mutation_p.I435S|PRKAG2_uc003wki.1_Missense_Mutation_p.I238S|PRKAG2_uc003wkl.1_Intron	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	479	CBS 3.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			kidney(1)	1	all_neural(206;0.187)	all_hematologic(28;0.0605)												0.192308	26.120829	30.716785	10	42	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Missense_Mutation	SNP	150893366	150893366	12944	7	A	C	C	4	4	PRKAG2	C	4	4
PRKAG2	51422	broad.mit.edu	36	7	151204629	151204629	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151204629C>T	uc003wkk.1	-	c.10G>A	c.(10-12)GCG>ACG	p.A4T	PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.A4T	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	4					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			kidney(1)	1	all_neural(206;0.187)	all_hematologic(28;0.0605)												0.435897	141.708322	142.126745	51	66	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Missense_Mutation	SNP	151204629	151204629	12944	7	C	T	T	27	27	PRKAG2	T	1	1
GALNTL5	168391	broad.mit.edu	36	7	151330908	151330908	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151330908A>G	uc003wkp.1	+	c.835A>G	c.(835-837)AAC>GAC	p.N279D	GALNTL5_uc003wkq.1_Missense_Mutation_p.N30D|GALNTL5_uc003wkr.1_Non-coding_Transcript|GALNTL5_uc003wks.1_Non-coding_Transcript|GALNTL5_uc010lqf.1_Missense_Mutation_p.N168D	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	279	Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)												0.188285	114.248489	135.971167	45	194	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	Missense_Mutation	SNP	151330908	151330908	6488	7	A	G	G	9	9	GALNTL5	G	4	4
GALNTL5	168391	broad.mit.edu	36	7	151347743	151347743	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151347743G>A	uc003wkp.1	+	c.1256G>A	c.(1255-1257)CGA>CAA	p.R419Q	GALNTL5_uc003wkq.1_Missense_Mutation_p.R170Q|GALNTL5_uc003wkr.1_Non-coding_Transcript|GALNTL5_uc003wks.1_Non-coding_Transcript|GALNTL5_uc010lqf.1_Missense_Mutation_p.R308Q	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	419	Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)												0.179191	55.216093	71.976711	31	142	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	Missense_Mutation	SNP	151347743	151347743	6488	7	G	A	A	37	37	GALNTL5	A	1	1
GALNT11	63917	broad.mit.edu	36	7	151449589	151449589	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151449589C>T	uc010lqg.1	+	c.1721C>T	c.(1720-1722)TCG>TTG	p.S574L	GALNT11_uc003wku.2_Missense_Mutation_p.S574L	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	GALNAC-T11	574	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)												0.147436	33.129836	51.752036	23	133	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	Missense_Mutation	SNP	151449589	151449589	6473	7	C	T	T	31	31	GALNT11	T	1	1
MLL3	58508	broad.mit.edu	36	7	151472798	151472798	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151472798G>T	uc003wla.1	-	c.14276C>A	c.(14275-14277)TCA>TAA	p.S4759*	MLL3_uc003wkz.1_Nonsense_Mutation_p.S3873*|MLL3_uc003wkx.1_Nonsense_Mutation_p.S917*|MLL3_uc003wky.2_Nonsense_Mutation_p.S2319*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4759					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)				Colon(68;14 1149 1884 27689 34759)				1780				0.465608	241.766615	241.96238	88	101	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Nonsense_Mutation	SNP	151472798	151472798	10012	7	G	T	T	45	45	MLL3	T	5	3
MLL3	58508	broad.mit.edu	36	7	151491211	151491211	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151491211A>C	uc003wla.1	-	c.10384T>G	c.(10384-10386)TTT>GTT	p.F3462V	MLL3_uc003wkz.1_Missense_Mutation_p.F2523V|MLL3_uc003wky.2_Missense_Mutation_p.F971V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3462	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)				Colon(68;14 1149 1884 27689 34759)				1780				0.228889	270.721405	301.033882	103	347	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Missense_Mutation	SNP	151491211	151491211	10012	7	A	C	C	1	1	MLL3	C	4	4
MLL3	58508	broad.mit.edu	36	7	151502221	151502221	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151502221A>G	uc003wla.1	-	c.9302T>C	c.(9301-9303)ATG>ACG	p.M3101T	MLL3_uc003wkz.1_Missense_Mutation_p.M2162T|MLL3_uc003wky.2_Missense_Mutation_p.M610T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3101	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)				Colon(68;14 1149 1884 27689 34759)				1780				0.168539	61.150714	79.660674	30	148	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Missense_Mutation	SNP	151502221	151502221	10012	7	A	G	G	8	8	MLL3	G	4	4
MLL3	58508	broad.mit.edu	36	7	151505322	151505322	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151505322G>T	uc003wla.1	-	c.8149C>A	c.(8149-8151)CTT>ATT	p.L2717I	MLL3_uc003wkz.1_Missense_Mutation_p.L1778I|MLL3_uc003wky.2_Missense_Mutation_p.L226I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2717	Asp-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)				Colon(68;14 1149 1884 27689 34759)				1780				0.183962	64.931303	84.902861	39	173	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Missense_Mutation	SNP	151505322	151505322	10012	7	G	T	T	33	33	MLL3	T	3	3
MLL3	58508	broad.mit.edu	36	7	151509195	151509195	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151509195C>A	uc003wla.1	-	c.6683G>T	c.(6682-6684)AGG>ATG	p.R2228M	MLL3_uc003wkz.1_Missense_Mutation_p.R1289M	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2228	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)				Colon(68;14 1149 1884 27689 34759)				1780				0.226277	64.141463	73.579295	31	106	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Missense_Mutation	SNP	151509195	151509195	10012	7	C	A	A	24	24	MLL3	A	3	3
MLL3	58508	broad.mit.edu	36	7	151509992	151509992	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151509992G>T	uc003wla.1	-	c.5886C>A	c.(5884-5886)CCC>CCA	p.P1962P	MLL3_uc003wkz.1_Silent_p.P1023P	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1962	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)				Colon(68;14 1149 1884 27689 34759)			p.P1023P(TEN-Tumor)	1780				0.202509	225.849632	271.738228	113	445	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Silent	SNP	151509992	151509992	10012	7	G	T	T	35	35	MLL3	T	3	3
MLL3	58508	broad.mit.edu	36	7	151511143	151511143	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151511143C>T	uc003wla.1	-	c.5114G>A	c.(5113-5115)CGC>CAC	p.R1705H	MLL3_uc003wkz.1_Missense_Mutation_p.R766H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1705					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)				Colon(68;14 1149 1884 27689 34759)				1780				0.200549	291.931007	352.644819	146	582	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Missense_Mutation	SNP	151511143	151511143	10012	7	C	T	T	27	27	MLL3	T	1	1
MLL3	58508	broad.mit.edu	36	7	151643343	151643343	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:151643343C>T	uc003wla.1	-	c.403G>A	c.(403-405)GCT>ACT	p.A135T		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	135					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)				Colon(68;14 1149 1884 27689 34759)				1780				0.20442	74.072974	88.75068	37	144	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Missense_Mutation	SNP	151643343	151643343	10012	7	C	T	T	27	27	MLL3	T	1	1
TMEM195	392636	broad.mit.edu	36	7	15393681	15393681	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:15393681A>C	uc003stb.1	-	c.832T>G	c.(832-834)TTA>GTA	p.L278V		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	278					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.412429	209.434375	210.621752	73	104	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15393681	15393681	16652	7	A	C	C	3	3	TMEM195	C	4	4
DPP6	1804	broad.mit.edu	36	7	154298660	154298660	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:154298660C>T	uc003wlk.1	+	c.1995C>T	c.(1993-1995)AGC>AGT	p.S665S	DPP6_uc003wli.1_Silent_p.S601S|DPP6_uc003wlm.1_Silent_p.S603S	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	665	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)				NSCLC(125;1384 1783 2490 7422 34254)								0.259259	15.81386	17.230688	7	20	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		Silent	SNP	154298660	154298660	4914	7	C	T	T	27	27	DPP6	T	1	1
DPP6	1804	broad.mit.edu	36	7	154315054	154315054	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:154315054C>T	uc003wlk.1	+	c.2529C>T	c.(2527-2529)TTC>TTT	p.F843F	DPP6_uc003wli.1_Silent_p.F779F|DPP6_uc003wlm.1_Silent_p.F781F	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	843	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)				NSCLC(125;1384 1783 2490 7422 34254)								0.248908	127.649246	140.793973	57	172	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		Silent	SNP	154315054	154315054	4914	7	C	T	T	31	31	DPP6	T	1	1
PAXIP1	22976	broad.mit.edu	36	7	154378202	154378202	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:154378202G>A	uc003wlp.1	-	c.2622C>T	c.(2620-2622)TTC>TTT	p.F874F	PAXIP1_uc003wlq.1_Silent_p.F840F	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	874	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)								633				0.515789	143.317596	143.341283	49	46	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	Silent	SNP	154378202	154378202	11907	7	G	A	A	37	37	PAXIP1	A	1	1
HTR5A	3361	broad.mit.edu	36	7	154494272	154494272	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:154494272G>A	uc003wlu.1	+	c.730G>A	c.(730-732)GAA>AAA	p.E244K		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	244	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)												0.349315	133.973963	136.902207	51	95	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Missense_Mutation	SNP	154494272	154494272	7750	7	G	A	A	37	37	HTR5A	A	1	1
INSIG1	3638	broad.mit.edu	36	7	154725038	154725038	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:154725038T>G	uc003wlx.1	+	c.680T>G	c.(679-681)TTT>TGT	p.F227C	INSIG1_uc003wly.1_Missense_Mutation_p.F227C|INSIG1_uc003wlz.1_Intron	NM_198336	NP_938150	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 2	227	Helical; (Potential).				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)												0.429412	241.352116	242.090048	73	97	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	154725038	154725038	8066	7	T	G	G	64	64	INSIG1	G	4	4
RBM33	155435	broad.mit.edu	36	7	155223096	155223096	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:155223096C>T	uc010lqj.1	+	c.1402C>T	c.(1402-1404)CGA>TGA	p.R468*	RBM33_uc010lqk.1_Nonsense_Mutation_p.R458*	NM_001008408	NP_001008408	Q96EV2	RBM33_HUMAN	RNA-binding protein 33 (RNA-binding motif protein 33) (Proline-rich protein 8).	458	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)												0.194444	13.704533	16.840214	7	29	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	Nonsense_Mutation	SNP	155223096	155223096	13592	7	C	T	T	31	31	RBM33	T	5	1
RBM33	155435	broad.mit.edu	36	7	155227273	155227273	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:155227273G>T	uc010lqj.1	+	c.2080_splice	c.e13-1	p.N694_splice	RBM33_uc010lqk.1_Splice_Site_SNP_p.N684_splice	NM_001008408	NP_001008408			RNA-binding protein 33 (RNA-binding motif protein 33) (Proline-rich protein 8).								nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)												0.166667	54.653243	77.429956	36	180	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	Splice_Site_SNP	SNP	155227273	155227273	13592	7	G	T	T	33	33	RBM33	T	5	3
RBM33	155435	broad.mit.edu	36	7	155249278	155249278	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:155249278C>T	uc010lqj.1	+	c.3021C>T	c.(3019-3021)AGC>AGT	p.S1007S	RBM33_uc010lqk.1_Silent_p.S997S|RBM33_uc003wmg.2_5'UTR	NM_001008408	NP_001008408	Q96EV2	RBM33_HUMAN	RNA-binding protein 33 (RNA-binding motif protein 33) (Proline-rich protein 8).	997							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)												0.448276	32.164122	32.232537	13	16	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	Silent	SNP	155249278	155249278	13592	7	C	T	T	27	27	RBM33	T	1	1
SHH	6469	broad.mit.edu	36	7	155297544	155297544	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:155297544G>T	uc003wmk.1	-	c.34C>A	c.(34-36)CTC>ATC	p.L12I		NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	12					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|regulation of mesenchymal cell proliferation involved in ureter development|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|transcription activator activity|zinc ion binding			central_nervous_system(3)	3	all_neural(206;0.101)	all_hematologic(28;0.0592)								109				0.412556	245.354671	246.843375	92	131	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	155297544	155297544	14771	7	G	T	T	35	35	SHH	T	3	3
TMEM184A	202915	broad.mit.edu	36	7	1556297	1556297	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:1556297G>A	uc003skv.2	-	c.540C>T	c.(538-540)CGC>CGT	p.R180R	TMEM184A_uc003skt.2_5'UTR|TMEM184A_uc003skw.2_Intron	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	180						integral to membrane					0		Ovarian(82;0.0253)												0.34375	29.312117	30.003666	11	21	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	Silent	SNP	1556297	1556297	16638	7	G	A	A	34	34	TMEM184A	A	2	2
LMBR1	64327	broad.mit.edu	36	7	156248618	156248618	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:156248618G>A	uc010lqn.1	-	c.564C>T	c.(562-564)TTC>TTT	p.F188F	LMBR1_uc003wmv.2_Silent_p.F36F|LMBR1_uc003wmw.2_Silent_p.F188F|LMBR1_uc003wmx.2_Silent_p.F36F	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	limb region 1 protein	188	Helical; (Potential).					integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)												0.52459	95.798169	95.830003	32	29	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	Silent	SNP	156248618	156248618	9169	7	G	A	A	33	33	LMBR1	A	2	2
MEOX2	4223	broad.mit.edu	36	7	15632925	15632925	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:15632925C>T	uc003stc.1	-	c.661G>A	c.(661-663)GCA>ACA	p.A221T		NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	221	Homeobox.				blood circulation|multicellular organismal development|regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|central_nervous_system(1)	2						Esophageal Squamous(140;197 1769 16409 18257 29929)								0.208955	121.238326	142.269336	56	212	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	Missense_Mutation	SNP	15632925	15632925	9863	7	C	T	T	28	28	MEOX2	T	2	2
NOM1	64434	broad.mit.edu	36	7	156452453	156452453	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:156452453A>G	uc003wmy.1	+	c.2204A>G	c.(2203-2205)GAC>GGC	p.D735G		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	735	MI.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)												0.365591	218.961239	221.912053	68	118	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	Missense_Mutation	SNP	156452453	156452453	10933	7	A	G	G	10	10	NOM1	G	4	4
UBE3C	9690	broad.mit.edu	36	7	156666985	156666985	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:156666985C>A	uc010lqs.1	+	c.629C>A	c.(628-630)TCT>TAT	p.S210Y	UBE3C_uc003wnf.2_Missense_Mutation_p.S167Y|UBE3C_uc003wng.2_Missense_Mutation_p.S210Y	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	210					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|ovary(1)	2		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)												0.156863	36.390454	53.594457	24	129	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	Missense_Mutation	SNP	156666985	156666985	17439	7	C	A	A	32	32	UBE3C	A	3	3
UBE3C	9690	broad.mit.edu	36	7	156716552	156716552	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:156716552C>T	uc010lqs.1	+	c.2251C>T	c.(2251-2253)CGG>TGG	p.R751W	UBE3C_uc003wni.2_Missense_Mutation_p.R114W	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	751	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|ovary(1)	2		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)												0.40724	243.69597	245.360027	90	131	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	Missense_Mutation	SNP	156716552	156716552	17439	7	C	T	T	27	27	UBE3C	T	1	1
DNAJB6	10049	broad.mit.edu	36	7	156844092	156844092	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:156844092C>T	uc003wnk.1	+	c.65C>T	c.(64-66)GCA>GTA	p.A22V	DNAJB6_uc003wnl.1_Splice_Site_SNP_p.R9_splice|DNAJB6_uc003wnj.1_Missense_Mutation_p.A22V|DNAJB6_uc010lqt.1_Missense_Mutation_p.A22V	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	22	Interaction with HSP70.|J.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			ovary(2)	2	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)				Esophageal Squamous(46;195 967 1350 20350 43814)								0.15	29.79743	46.233347	21	119	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	Missense_Mutation	SNP	156844092	156844092	4807	7	C	T	T	27	27	DNAJB6	T	1	1
NCAPG2	54892	broad.mit.edu	36	7	158141778	158141778	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:158141778C>T	uc003wnv.1	-	c.2323G>A	c.(2323-2325)GAG>AAG	p.E775K	NCAPG2_uc010lqu.1_Missense_Mutation_p.E567K|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc003wnx.1_Missense_Mutation_p.E775K	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	775					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)												0.196721	92.755322	113.673678	48	196	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	Missense_Mutation	SNP	158141778	158141778	10607	7	C	T	T	31	31	NCAPG2	T	1	1
NCAPG2	54892	broad.mit.edu	36	7	158161048	158161048	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:158161048A>G	uc003wnv.1	-	c.1208T>C	c.(1207-1209)ATA>ACA	p.I403T	NCAPG2_uc010lqu.1_Missense_Mutation_p.I195T|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc003wnx.1_Missense_Mutation_p.I403T	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	403					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)												0.086331	6.607139	30.686022	12	127	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	Missense_Mutation	SNP	158161048	158161048	10607	7	A	G	G	16	16	NCAPG2	G	4	4
NCAPG2	54892	broad.mit.edu	36	7	158175322	158175322	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:158175322C>A	uc003wnv.1	-	c.622G>T	c.(622-624)GAT>TAT	p.D208Y	NCAPG2_uc010lqu.1_5'UTR|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc003wnx.1_Missense_Mutation_p.D208Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	208					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)												0.314286	52.416224	54.56934	22	48	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	Missense_Mutation	SNP	158175322	158175322	10607	7	C	A	A	32	32	NCAPG2	A	3	3
ESYT2	57488	broad.mit.edu	36	7	158227265	158227265	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:158227265C>T	uc003wob.1	-	c.1959G>A	c.(1957-1959)GGG>GGA	p.G653G	ESYT2_uc003wny.1_Intron|ESYT2_uc003wnz.1_Silent_p.G92G|ESYT2_uc003woa.1_Silent_p.G230G|ESYT2_uc003woc.1_Silent_p.G477G	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	681						integral to membrane|plasma membrane				kidney(1)	1														0.433036	272.16719	273.033825	97	127	CC		KEEP	---	---	---	---	capture			Silent	SNP	158227265	158227265	5458	7	C	T	T	30	30	ESYT2	T	2	2
ESYT2	57488	broad.mit.edu	36	7	158283477	158283477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:158283477G>A	uc003wob.1	-	c.568C>T	c.(568-570)CGA>TGA	p.R190*	ESYT2_uc003woc.1_Nonsense_Mutation_p.R14*|ESYT2_uc003wod.1_Nonsense_Mutation_p.R190*	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	218						integral to membrane|plasma membrane				kidney(1)	1														0.246154	69.686548	77.370337	32	98	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	158283477	158283477	5458	7	G	A	A	37	37	ESYT2	A	5	1
WDR60	55112	broad.mit.edu	36	7	158397006	158397006	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:158397006C>T	uc003woe.2	+	c.1465C>T	c.(1465-1467)CGA>TGA	p.R489*	WDR60_uc010lqv.1_Non-coding_Transcript|WDR60_uc010lqw.1_Nonsense_Mutation_p.R121*	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	489										ovary(2)|breast(1)	3	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)												0.378378	73.179952	74.140865	28	46	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	Nonsense_Mutation	SNP	158397006	158397006	17884	7	C	T	T	27	27	WDR60	T	5	1
WDR60	55112	broad.mit.edu	36	7	158407831	158407831	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:158407831C>T	uc003woe.2	+	c.1924C>T	c.(1924-1926)CGA>TGA	p.R642*	WDR60_uc010lqv.1_Intron|WDR60_uc010lqw.1_Nonsense_Mutation_p.R274*	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	642										ovary(2)|breast(1)	3	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)												0.375	121.937769	123.586561	45	75	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	Nonsense_Mutation	SNP	158407831	158407831	17884	7	C	T	T	31	31	WDR60	T	5	1
WDR60	55112	broad.mit.edu	36	7	158411879	158411879	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:158411879C>T	uc003woe.2	+	c.2397C>T	c.(2395-2397)ATC>ATT	p.I799I	WDR60_uc010lqv.1_Non-coding_Transcript|WDR60_uc010lqw.1_Silent_p.I431I	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	799	WD 2.									ovary(2)|breast(1)	3	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)												0.309524	32.356978	33.716152	13	29	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	Silent	SNP	158411879	158411879	17884	7	C	T	T	31	31	WDR60	T	1	1
SOSTDC1	25928	broad.mit.edu	36	7	16468973	16468973	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:16468973C>A	uc003sth.1	-	c.418G>T	c.(418-420)GGA>TGA	p.G140*	SOSTDC1_uc003stg.1_Nonsense_Mutation_p.G116*	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	116	CTCK.				Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)													0.207171	101.957516	121.910903	52	199	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	Nonsense_Mutation	SNP	16468973	16468973	15439	7	C	A	A	24	24	SOSTDC1	A	5	3
BZW2	28969	broad.mit.edu	36	7	16703188	16703188	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:16703188G>T	uc003stj.1	+	c.946G>T	c.(946-948)GAG>TAG	p.E316*	BZW2_uc003stk.1_Nonsense_Mutation_p.E240*|BZW2_uc003stl.1_Nonsense_Mutation_p.E316*|BZW2_uc003stm.1_Nonsense_Mutation_p.E122*|BZW2_uc003sto.1_Nonsense_Mutation_p.E164*|BZW2_uc003stp.1_Nonsense_Mutation_p.E164*|BZW2_uc010kua.1_Nonsense_Mutation_p.E316*	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	316	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			ovary(1)	1	Lung NSC(10;0.0367)|all_lung(11;0.0837)													0.177778	23.434612	32.251031	16	74	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	Nonsense_Mutation	SNP	16703188	16703188	1613	7	G	T	T	33	33	BZW2	T	5	3
AHR	196	broad.mit.edu	36	7	17316155	17316155	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:17316155G>A	uc003stu.1	+	c.136G>A	c.(136-138)GAG>AAG	p.E46K	AHR_uc003stt.2_Non-coding_Transcript	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor	46	Helix-loop-helix motif.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|promoter binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)													0.194631	61.982334	74.947816	29	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17316155	17316155	419	7	G	A	A	33	33	AHR	A	2	2
AHR	196	broad.mit.edu	36	7	17345293	17345293	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:17345293C>A	uc003stu.1	+	c.1319C>A	c.(1318-1320)TCT>TAT	p.S440Y	AHR_uc003stt.2_Non-coding_Transcript	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor	440					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|promoter binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)													0.267442	96.071704	104.478256	46	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17345293	17345293	419	7	C	A	A	32	32	AHR	A	3	3
AHR	196	broad.mit.edu	36	7	17345951	17345951	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:17345951C>T	uc003stu.1	+	c.1977C>T	c.(1975-1977)TTC>TTT	p.F659F	AHR_uc003stt.2_Non-coding_Transcript	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor	659					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|promoter binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)													0.452145	389.124934	389.730425	137	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	17345951	17345951	419	7	C	T	T	31	31	AHR	T	1	1
AHR	196	broad.mit.edu	36	7	17346283	17346283	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:17346283C>A	uc003stu.1	+	c.2309C>A	c.(2308-2310)TCG>TAG	p.S770*	AHR_uc003stt.2_Non-coding_Transcript	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor	770					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|promoter binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)													0.227092	131.653527	148.808276	57	194	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	17346283	17346283	419	7	C	A	A	31	31	AHR	A	5	3
HDAC9	9734	broad.mit.edu	36	7	18591514	18591514	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:18591514G>T	uc003sui.1	+	c.108G>T	c.(106-108)GTG>GTT	p.V36V	HDAC9_uc003sue.1_Silent_p.V36V|HDAC9_uc003suh.1_Silent_p.V36V|HDAC9_uc003suj.1_Silent_p.V36V|HDAC9_uc003sua.1_Silent_p.V55V|HDAC9_uc003sud.1_Silent_p.V36V|HDAC9_uc003suf.1_Silent_p.V64V|HDAC9_uc010kud.1_Silent_p.V36V|HDAC9_uc003sug.1_Silent_p.V36V|HDAC9_uc003suc.1_Silent_p.V36V	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	36					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.446367	356.201321	356.929637	129	160	GG		KEEP	---	---	---	---	capture			Silent	SNP	18591514	18591514	7297	7	G	T	T	47	47	HDAC9	T	3	3
HDAC9	9734	broad.mit.edu	36	7	18768305	18768305	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:18768305C>T	uc003sui.1	+	c.2044C>T	c.(2044-2046)CGA>TGA	p.R682*	HDAC9_uc003sue.1_Nonsense_Mutation_p.R679*|HDAC9_uc003suh.1_Nonsense_Mutation_p.R679*|HDAC9_uc003suj.1_Nonsense_Mutation_p.R638*|HDAC9_uc003sua.1_Nonsense_Mutation_p.R657*|HDAC9_uc003sug.1_Nonsense_Mutation_p.R679*	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	679	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.192771	29.690597	36.978603	16	67	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	18768305	18768305	7297	7	C	T	T	27	27	HDAC9	T	5	1
HDAC9	9734	broad.mit.edu	36	7	18799536	18799536	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:18799536C>T	uc003sui.1	+	c.2258C>T	c.(2257-2259)GCT>GTT	p.A753V	HDAC9_uc003sue.1_Missense_Mutation_p.A750V|HDAC9_uc003suh.1_Missense_Mutation_p.A750V|HDAC9_uc003suj.1_Missense_Mutation_p.A709V|HDAC9_uc003suk.1_5'UTR|HDAC9_uc003sua.1_Missense_Mutation_p.A728V|HDAC9_uc003sug.1_Missense_Mutation_p.A750V	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	750	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.357143	13.670272	13.922284	5	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18799536	18799536	7297	7	C	T	T	28	28	HDAC9	T	2	2
FERD3L	222894	broad.mit.edu	36	7	19151509	19151509	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:19151509A>G	uc003suo.1	-	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	1					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			large_intestine(1)	1														0.459459	99.945507	100.050506	34	40	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19151509	19151509	6053	7	A	G	G	8	8	FERD3L	G	4	4
MACC1	346389	broad.mit.edu	36	7	20166030	20166030	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:20166030G>T	uc003sus.2	-	c.479C>A	c.(478-480)TCT>TAT	p.S160Y	MACC1_uc010kug.1_Missense_Mutation_p.S160Y	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	160					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)	2														0.172269	68.209215	92.385167	41	197	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20166030	20166030	9520	7	G	T	T	33	33	MACC1	T	3	3
ABCB5	340273	broad.mit.edu	36	7	20687705	20687705	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:20687705G>A	uc010kuh.1	+	c.1760G>A	c.(1759-1761)CGA>CAA	p.R587Q	ABCB5_uc003suw.2_Missense_Mutation_p.R142Q|ABCB5_uc010kui.1_Missense_Mutation_p.R142Q	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	142	ABC transporter 1.|Extracellular (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.251429	102.614866	112.440588	44	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20687705	20687705	45	7	G	A	A	37	37	ABCB5	A	1	1
ABCB5	340273	broad.mit.edu	36	7	20759538	20759538	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:20759538G>T	uc010kuh.1	+	c.3460G>T	c.(3460-3462)GCA>TCA	p.A1154S	ABCB5_uc003suw.2_Missense_Mutation_p.A709S|ABCB5_uc010kui.1_Missense_Mutation_p.A709S	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	709	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.195489	50.668289	62.172606	26	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20759538	20759538	45	7	G	T	T	34	34	ABCB5	T	3	3
ABCB5	340273	broad.mit.edu	36	7	20761715	20761715	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:20761715G>A	uc010kuh.1	+	c.3717G>A	c.(3715-3717)GAG>GAA	p.E1239E	ABCB5_uc003suw.2_Silent_p.E794E|ABCB5_uc010kui.1_Silent_p.E794E	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	794	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.436975	152.774299	153.18764	52	67	GG		KEEP	---	---	---	---	capture			Silent	SNP	20761715	20761715	45	7	G	A	A	34	34	ABCB5	A	2	2
SP8	221833	broad.mit.edu	36	7	20790827	20790827	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:20790827G>A	uc003suz.1	-	c.1134C>T	c.(1132-1134)ATC>ATT	p.I378I	SP8_uc003suy.1_Silent_p.I360I|SP8_uc010kuj.1_Silent_p.I360I	NM_182700	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 1	360	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1														0.314286	28.510527	29.585681	11	24	GG		KEEP	---	---	---	---	capture			Silent	SNP	20790827	20790827	15470	7	G	A	A	41	41	SP8	A	2	2
SP4	6671	broad.mit.edu	36	7	21436634	21436634	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21436634G>A	uc003sva.1	+	c.1326G>A	c.(1324-1326)CAG>CAA	p.Q442Q	SP4_uc003svb.1_Silent_p.Q129Q	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	442					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(3)	3														0.466276	486.387159	486.725527	159	182	GG		KEEP	---	---	---	---	capture			Silent	SNP	21436634	21436634	15466	7	G	A	A	33	33	SP4	A	2	2
DNAH11	8701	broad.mit.edu	36	7	21567298	21567298	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21567298C>A	uc003svc.1	+	c.967C>A	c.(967-969)CTG>ATG	p.L323M		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	323	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														0.411765	18.319859	18.435929	7	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21567298	21567298	4781	7	C	A	A	32	32	DNAH11	A	3	3
DNAH11	8701	broad.mit.edu	36	7	21607156	21607156	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21607156G>A	uc003svc.1	+	c.3259G>A	c.(3259-3261)GAC>AAC	p.D1087N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1087	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														0.267327	61.87108	66.815568	27	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21607156	21607156	4781	7	G	A	A	45	45	DNAH11	A	2	2
DNAH11	8701	broad.mit.edu	36	7	21713892	21713892	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21713892T>G	uc003svc.1	+	c.6618T>G	c.(6616-6618)GTT>GTG	p.V2206V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2206	AAA 2 (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														0.349057	116.648272	118.777103	37	69	TT		KEEP	---	---	---	---	capture			Silent	SNP	21713892	21713892	4781	7	T	G	G	64	64	DNAH11	G	4	4
DNAH11	8701	broad.mit.edu	36	7	21745723	21745723	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21745723A>G	uc003svc.1	+	c.7842A>G	c.(7840-7842)AGA>AGG	p.R2614R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2614	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.433962	234.257866	234.860904	69	90	AA		KEEP	---	---	---	---	capture			Silent	SNP	21745723	21745723	4781	7	A	G	G	10	10	DNAH11	G	4	4
DNAH11	8701	broad.mit.edu	36	7	21780088	21780088	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21780088G>T	uc003svc.1	+	c.9303G>T	c.(9301-9303)GAG>GAT	p.E3101D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3101	Stalk (By similarity).|Potential.				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														0.428571	14.441301	14.504708	6	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21780088	21780088	4781	7	G	T	T	33	33	DNAH11	T	3	3
DNAH11	8701	broad.mit.edu	36	7	21858661	21858661	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21858661G>T	uc003svc.1	+	c.10969G>T	c.(10969-10971)GAA>TAA	p.E3657*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3657	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														0.24375	81.042546	90.625274	39	121	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	21858661	21858661	4781	7	G	T	T	41	41	DNAH11	T	5	3
DNAH11	8701	broad.mit.edu	36	7	21872718	21872718	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21872718T>A	uc003svc.1	+	c.11623T>A	c.(11623-11625)TTA>ATA	p.L3875I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3875					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														0.238372	89.104845	99.85055	41	131	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21872718	21872718	4781	7	T	A	A	52	52	DNAH11	A	4	4
DNAH11	8701	broad.mit.edu	36	7	21890458	21890458	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21890458C>A	uc003svc.1	+	c.12433C>A	c.(12433-12435)CTC>ATC	p.L4145I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4145					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														0.448276	175.137113	175.477504	65	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21890458	21890458	4781	7	C	A	A	32	32	DNAH11	A	3	3
RAPGEF5	9771	broad.mit.edu	36	7	22153083	22153083	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:22153083T>C	uc003svg.1	-	c.1505A>G	c.(1504-1506)GAA>GGA	p.E502G		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	352	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1														0.20098	103.189333	120.250759	41	163	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22153083	22153083	13507	7	T	C	C	62	62	RAPGEF5	C	4	4
NUDT1	4521	broad.mit.edu	36	7	2256123	2256123	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2256123C>T	uc003slp.1	+	c.327C>T	c.(325-327)TTC>TTT	p.F109F	NUDT1_uc003slq.1_Silent_p.F86F|NUDT1_uc003slr.1_Silent_p.F86F|NUDT1_uc003sls.1_Silent_p.F109F|NUDT1_uc003slt.1_Silent_p.F86F|NUDT1_uc003slu.1_Silent_p.F109F|NUDT1_uc003slv.1_Silent_p.F86F	NM_198949	NP_945191	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	127	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)												0.228311	115.2112	130.070862	50	169	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	Silent	SNP	2256123	2256123	11130	7	C	T	T	32	32	NUDT1	T	2	2
FAM126A	84668	broad.mit.edu	36	7	22952250	22952250	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:22952250C>T	uc003svm.2	-	c.1049G>A	c.(1048-1050)GGA>GAA	p.G350E	FAM126A_uc003svn.2_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	350						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1														0.201717	97.629668	116.873476	47	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22952250	22952250	5626	7	C	T	T	30	30	FAM126A	T	2	2
FAM126A	84668	broad.mit.edu	36	7	22970615	22970615	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:22970615C>T	uc003svm.2	-	c.687G>A	c.(685-687)AGG>AGA	p.R229R	FAM126A_uc003svn.2_Silent_p.R85R	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	229						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1														0.428571	191.919629	192.606053	66	88	CC		KEEP	---	---	---	---	capture			Silent	SNP	22970615	22970615	5626	7	C	T	T	30	30	FAM126A	T	2	2
NUPL2	11097	broad.mit.edu	36	7	23193287	23193287	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23193287T>C	uc003svu.1	+	c.442T>C	c.(442-444)TCA>CCA	p.S148P	NUPL2_uc003svv.1_Non-coding_Transcript|NUPL2_uc003svw.1_Missense_Mutation_p.S25P|NUPL2_uc003svx.1_Missense_Mutation_p.S25P	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	148	Interaction with HIV-1 Vpr.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2														0.18125	68.083735	83.358561	29	131	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23193287	23193287	11180	7	T	C	C	62	62	NUPL2	C	4	4
IGF2BP3	10643	broad.mit.edu	36	7	23352142	23352142	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23352142C>A	uc003swg.1	-	c.883G>T	c.(883-885)GAA>TAA	p.E295*	IGF2BP3_uc003swf.1_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	295	KH 2.				anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2														0.248804	109.175649	121.192088	52	157	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	23352142	23352142	7876	7	C	A	A	32	32	IGF2BP3	A	5	3
IGF2BP3	10643	broad.mit.edu	36	7	23424964	23424964	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23424964G>A	uc003swg.1	-	c.241C>T	c.(241-243)CGG>TGG	p.R81W	IGF2BP3_uc003swh.1_Non-coding_Transcript	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	81	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2														0.217391	21.824312	25.212739	10	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23424964	23424964	7876	7	G	A	A	37	37	IGF2BP3	A	1	1
TRA2A	29896	broad.mit.edu	36	7	23511929	23511929	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23511929G>A	uc003swi.1	-	c.799C>T	c.(799-801)CGA>TGA	p.R267*		NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	267	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						Pancreas(121;2137 2973 46590)								0.22093	83.057458	95.389937	38	134	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	23511929	23511929	16977	7	G	A	A	37	37	TRA2A	A	5	1
TRA2A	29896	broad.mit.edu	36	7	23527869	23527869	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23527869C>T	uc003swi.1	-	c.152G>A	c.(151-153)CGA>CAA	p.R51Q	TRA2A_uc010kuo.1_Non-coding_Transcript	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	51	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						Pancreas(121;2137 2973 46590)								0.12892	46.06787	84.568943	37	250	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23527869	23527869	16977	7	C	T	T	31	31	TRA2A	T	1	1
C7orf46	340277	broad.mit.edu	36	7	23708242	23708242	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23708242G>T	uc003swo.2	+	c.831G>T	c.(829-831)ATG>ATT	p.M277I	C7orf46_uc003swq.2_Missense_Mutation_p.M241I|C7orf46_uc003swr.2_Missense_Mutation_p.M183I|C7orf46_uc003swp.2_Non-coding_Transcript|C7orf46_uc010kup.1_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	277											0														0.227273	32.685863	37.195821	15	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23708242	23708242	2503	7	G	T	T	45	45	C7orf46	T	3	3
EIF3B	8662	broad.mit.edu	36	7	2373195	2373195	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2373195C>A	uc003slx.1	+	c.1392C>A	c.(1390-1392)ATC>ATA	p.I464I	EIF3B_uc003sly.1_Silent_p.I464I|EIF3B_uc003sma.2_Silent_p.I192I	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	464					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)												0.39314	387.939791	391.743981	149	230	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	Silent	SNP	2373195	2373195	5202	7	C	A	A	32	32	EIF3B	A	3	3
STK31	56164	broad.mit.edu	36	7	23794135	23794135	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23794135G>T	uc003sws.2	+	c.2499G>T	c.(2497-2499)AAG>AAT	p.K833N	STK31_uc003swt.2_Missense_Mutation_p.K810N|STK31_uc010kuq.1_Missense_Mutation_p.K810N|STK31_uc003swv.1_De_novo_Start_OutOfFrame	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	833	Protein kinase.				protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.243478	122.869561	136.679077	56	174	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23794135	23794135	15816	7	G	T	T	35	35	STK31	T	3	3
STK31	56164	broad.mit.edu	36	7	23838484	23838484	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23838484A>C	uc003sws.2	+	c.3034A>C	c.(3034-3036)AAT>CAT	p.N1012H	STK31_uc003swt.2_Missense_Mutation_p.N989H|STK31_uc010kuq.1_Missense_Mutation_p.N989H|STK31_uc003swv.1_Missense_Mutation_p.N178H	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	1012	Protein kinase.				protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.404145	263.323727	264.870847	78	115	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23838484	23838484	15816	7	A	C	C	1	1	STK31	C	4	4
MPP6	51678	broad.mit.edu	36	7	24656695	24656695	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:24656695G>T	uc003swx.1	+	c.490G>T	c.(490-492)GAT>TAT	p.D164Y	MPP6_uc003swy.1_Missense_Mutation_p.D164Y	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	164	PDZ.				protein complex assembly		protein binding				0														0.12	18.236454	43.050505	21	154	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24656695	24656695	10130	7	G	T	T	33	33	MPP6	T	3	3
OSBPL3	26031	broad.mit.edu	36	7	24840762	24840762	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:24840762C>A	uc003sxf.1	-	c.1614G>T	c.(1612-1614)AAG>AAT	p.K538N	OSBPL3_uc003sxg.1_Missense_Mutation_p.K502N|OSBPL3_uc003sxh.1_Missense_Mutation_p.K507N|OSBPL3_uc003sxi.1_Missense_Mutation_p.K471N|OSBPL3_uc003sxd.1_Non-coding_Transcript|OSBPL3_uc003sxe.1_Non-coding_Transcript|OSBPL3_uc003sxj.1_Missense_Mutation_p.K267N|OSBPL3_uc003sxk.1_Missense_Mutation_p.K236N	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	538					lipid transport		lipid binding|protein binding			skin(1)	1														0.196172	77.293787	95.250899	41	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24840762	24840762	11690	7	C	A	A	24	24	OSBPL3	A	3	3
OSBPL3	26031	broad.mit.edu	36	7	24858738	24858738	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:24858738C>T	uc003sxf.1	-	c.1068G>A	c.(1066-1068)GCG>GCA	p.A356A	OSBPL3_uc003sxg.1_Silent_p.A356A|OSBPL3_uc003sxh.1_Silent_p.A325A|OSBPL3_uc003sxi.1_Silent_p.A325A|OSBPL3_uc003sxd.1_Non-coding_Transcript|OSBPL3_uc003sxe.1_Non-coding_Transcript|OSBPL3_uc003sxj.1_Silent_p.A121A|OSBPL3_uc003sxk.1_Silent_p.A90A	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	356					lipid transport		lipid binding|protein binding			skin(1)	1														0.46281	160.785596	160.931323	56	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	24858738	24858738	11690	7	C	T	T	23	23	OSBPL3	T	1	1
OSBPL3	26031	broad.mit.edu	36	7	24869663	24869663	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:24869663C>T	uc003sxf.1	-	c.754G>A	c.(754-756)GCA>ACA	p.A252T	OSBPL3_uc003sxg.1_Missense_Mutation_p.A252T|OSBPL3_uc003sxh.1_Missense_Mutation_p.A252T|OSBPL3_uc003sxi.1_Missense_Mutation_p.A252T|OSBPL3_uc003sxd.1_Non-coding_Transcript|OSBPL3_uc003sxe.1_Non-coding_Transcript|OSBPL3_uc003sxj.1_Missense_Mutation_p.A17T|OSBPL3_uc003sxk.1_Missense_Mutation_p.A17T	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	252					lipid transport		lipid binding|protein binding			skin(1)	1														0.182836	85.17407	110.474119	49	219	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24869663	24869663	11690	7	C	T	T	26	26	OSBPL3	T	2	2
OSBPL3	26031	broad.mit.edu	36	7	24878138	24878138	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:24878138A>C	uc003sxf.1	-	c.172T>G	c.(172-174)TTG>GTG	p.L58V	OSBPL3_uc003sxg.1_Missense_Mutation_p.L58V|OSBPL3_uc003sxh.1_Missense_Mutation_p.L58V|OSBPL3_uc003sxi.1_Missense_Mutation_p.L58V|OSBPL3_uc003sxd.1_Non-coding_Transcript|OSBPL3_uc003sxe.1_Non-coding_Transcript	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	58	PH.				lipid transport		lipid binding|protein binding			skin(1)	1														0.215385	108.75033	123.324314	42	153	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24878138	24878138	11690	7	A	C	C	1	1	OSBPL3	C	4	4
C7orf31	136895	broad.mit.edu	36	7	25142880	25142880	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:25142880G>A	uc003sxn.1	-	c.1009C>T	c.(1009-1011)CGA>TGA	p.R337*	C7orf31_uc003sxm.1_Nonsense_Mutation_p.R179*	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	337											0														0.164678	124.948019	169.653353	69	350	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	25142880	25142880	2494	7	G	A	A	39	39	C7orf31	A	5	1
C7orf27	221927	broad.mit.edu	36	7	2547163	2547163	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2547163G>A	uc003smi.1	-	c.1371C>T	c.(1369-1371)CTC>CTT	p.L457L	C7orf27_uc003smh.2_5'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927	457					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)												0.409091	23.330269	23.471547	9	13	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	Silent	SNP	2547163	2547163	2489	7	G	A	A	37	37	C7orf27	A	1	1
IQCE	23288	broad.mit.edu	36	7	2612057	2612057	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2612057C>T	uc003sml.1	+	c.1765C>T	c.(1765-1767)CCG>TCG	p.P589S	IQCE_uc003smo.2_Missense_Mutation_p.P589S|IQCE_uc003smk.2_Missense_Mutation_p.P573S|IQCE_uc003smn.2_Missense_Mutation_p.P524S	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	589											0		Ovarian(82;0.0112)												0.615385	71.40378	71.85789	24	15	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	Missense_Mutation	SNP	2612057	2612057	8107	7	C	T	T	30	30	IQCE	T	2	2
NFE2L3	9603	broad.mit.edu	36	7	26191833	26191833	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:26191833C>T	uc003sxq.1	+	c.1990C>T	c.(1990-1992)CTC>TTC	p.L664F		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor (erythroid-derived 2)-like 3	664					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1														0.201794	99.340121	117.774269	45	178	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26191833	26191833	10769	7	C	T	T	32	32	NFE2L3	T	2	2
HNRNPA2B1	3181	broad.mit.edu	36	7	26202755	26202755	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:26202755G>A	uc003sxr.2	-	c.560C>T	c.(559-561)GCT>GTT	p.A187V	HNRNPA2B1_uc003sxs.2_Missense_Mutation_p.A175V	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	187	RRM 2.				nuclear mRNA splicing, via spliceosome|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)	1										717				0.2	212.399913	255.543405	103	412	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26202755	26202755	7551	7	G	A	A	34	34	HNRNPA2B1	A	2	2
CBX3	11335	broad.mit.edu	36	7	26214685	26214685	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:26214685G>T	uc003sxt.1	+	c.315G>T	c.(313-315)AAG>AAT	p.K105N	CBX3_uc003sxu.1_Missense_Mutation_p.K105N|CBX3_uc003sxv.1_Missense_Mutation_p.R81I	NM_007276	NP_057671	Q13185	CBX3_HUMAN	chromobox homolog 3	105					chromatin assembly or disassembly|chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	chromatin binding|enzyme binding|general transcriptional repressor activity|protein domain specific binding			ovary(1)	1														0.172043	24.631735	34.100556	16	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26214685	26214685	2838	7	G	T	T	33	33	CBX3	T	3	3
SKAP2	8935	broad.mit.edu	36	7	26870516	26870516	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:26870516G>A	uc003syc.1	-	c.58C>T	c.(58-60)CTG>TTG	p.L20L		NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	20					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1														0.177215	57.903505	73.411559	28	130	GG		KEEP	---	---	---	---	capture			Silent	SNP	26870516	26870516	14851	7	G	A	A	35	35	SKAP2	A	2	2
HOXA7	3204	broad.mit.edu	36	7	27161227	27161227	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:27161227C>A	uc003sys.1	-	c.519G>T	c.(517-519)CAG>CAT	p.Q173H	HOXA6_uc003syq.1_5'Flank	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	173	Homeobox.				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|transcription factor binding|transcription repressor activity				0														0.289157	216.333025	229.585959	96	236	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27161227	27161227	7589	7	C	A	A	32	32	HOXA7	A	3	3
HOXA10	3206	broad.mit.edu	36	7	27178235	27178235	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:27178235C>A	uc003syv.1	-	c.990G>T	c.(988-990)CAG>CAT	p.Q330H	MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.2_Missense_Mutation_p.Q31H	NM_018951	NP_061824	P31260	HXA10_HUMAN	homeobox A10 isoform a	347	Homeobox.				regulation of transcription, DNA-dependent|spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.213333	89.258157	106.363413	48	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27178235	27178235	7581	7	C	A	A	32	32	HOXA10	A	3	3
GNA12	2768	broad.mit.edu	36	7	2737784	2737784	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2737784G>A	uc003smu.1	-	c.703C>T	c.(703-705)CGC>TGC	p.R235C	GNA12_uc003smt.1_Missense_Mutation_p.R176C	NM_007353	NP_031379	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein)	235					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1		Ovarian(82;0.0112)												0.436426	333.165323	334.191499	127	164	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	Missense_Mutation	SNP	2737784	2737784	6769	7	G	A	A	38	38	GNA12	A	1	1
HIBADH	11112	broad.mit.edu	36	7	27638496	27638496	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:27638496C>A	uc003szf.1	-	c.346G>T	c.(346-348)GCA>TCA	p.A116S	HIBADH_uc003szg.1_Missense_Mutation_p.A67S|HIBADH_uc003szh.1_Missense_Mutation_p.A15S|HIBADH_uc003szi.2_Missense_Mutation_p.A67S	NM_152740	NP_689953	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	116					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			ovary(1)	1					NADH(DB00157)									0.44206	300.785016	301.467916	103	130	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;0.0368)		Missense_Mutation	SNP	27638496	27638496	7384	7	C	A	A	28	28	HIBADH	A	3	3
TAX1BP1	8887	broad.mit.edu	36	7	27798268	27798268	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:27798268G>A	uc003szl.1	+	c.1157G>A	c.(1156-1158)AGA>AAA	p.R386K	TAX1BP1_uc003szk.1_Missense_Mutation_p.R386K	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	386	Oligomerization.|Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1														0.406897	166.287499	167.388447	59	86	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;0.0823)		Missense_Mutation	SNP	27798268	27798268	16116	7	G	A	A	33	33	TAX1BP1	A	2	2
JAZF1	221895	broad.mit.edu	36	7	27839069	27839069	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:27839069G>A	uc003szn.1	-	c.607C>T	c.(607-609)CGT>TGT	p.R203C	JAZF1_uc003szm.1_Missense_Mutation_p.R139C	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	203					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131										143				0.39823	123.14349	124.169605	45	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27839069	27839069	8250	7	G	A	A	37	37	JAZF1	A	1	1
CREB5	9586	broad.mit.edu	36	7	28501124	28501124	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:28501124A>G	uc003szq.1	+	c.151A>G	c.(151-153)ACA>GCA	p.T51A	CREB5_uc003szo.1_Missense_Mutation_p.T18A|CREB5_uc003szr.1_Missense_Mutation_p.T44A	NM_182898	NP_878902	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	51					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.248731	127.198622	138.499052	49	148	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28501124	28501124	3999	7	A	G	G	2	2	CREB5	G	4	4
CARD11	84433	broad.mit.edu	36	7	2950435	2950435	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2950435G>A	uc003smv.2	-	c.621C>T	c.(619-621)CGC>CGT	p.R207R		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	207	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)								1492				0.218341	112.01746	128.772604	50	179	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	Silent	SNP	2950435	2950435	2764	7	G	A	A	34	34	CARD11	A	2	2
CHN2	1124	broad.mit.edu	36	7	29513379	29513379	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:29513379G>T	uc003szz.1	+	c.1002G>T	c.(1000-1002)AAG>AAT	p.K334N	CHN2_uc010kva.1_Intron|CHN2_uc010kvb.1_Intron|CHN2_uc010kvc.1_Missense_Mutation_p.K299N|CHN2_uc010kvd.1_Missense_Mutation_p.K190N|CHN2_uc010kve.1_Intron|CHN2_uc003taa.1_Missense_Mutation_p.K198N|CHN2_uc010kvf.1_Missense_Mutation_p.K140N|CHN2_uc010kvg.1_Intron|CHN2_uc010kvh.1_Intron|CHN2_uc010kvi.1_Intron|CHN2_uc010kvj.1_Intron|CHN2_uc010kvk.1_Missense_Mutation_p.K9N|CHN2_uc010kvl.1_Intron|CHN2_uc010kvm.1_Missense_Mutation_p.K153N	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	334	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						Ovarian(1;44 48 13232 18918 31480)								0.16129	38.665474	55.598648	25	130	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29513379	29513379	3497	7	G	T	T	35	35	CHN2	T	3	3
CHN2	1124	broad.mit.edu	36	7	29513465	29513465	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:29513465T>C	uc003szz.1	+	c.1088T>C	c.(1087-1089)GTC>GCC	p.V363A	CHN2_uc010kva.1_Intron|CHN2_uc010kvb.1_Intron|CHN2_uc010kvc.1_Missense_Mutation_p.V328A|CHN2_uc010kvd.1_Missense_Mutation_p.V219A|CHN2_uc010kve.1_Intron|CHN2_uc003taa.1_Missense_Mutation_p.V227A|CHN2_uc010kvf.1_Missense_Mutation_p.V169A|CHN2_uc010kvg.1_Intron|CHN2_uc010kvh.1_Intron|CHN2_uc010kvi.1_Intron|CHN2_uc010kvj.1_Intron|CHN2_uc010kvk.1_Missense_Mutation_p.V38A|CHN2_uc010kvl.1_Intron|CHN2_uc010kvm.1_Missense_Mutation_p.V182A	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	363	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						Ovarian(1;44 48 13232 18918 31480)								0.194118	82.982503	97.816296	33	137	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29513465	29513465	3497	7	T	C	C	58	58	CHN2	C	4	4
CARD11	84433	broad.mit.edu	36	7	2953816	2953816	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2953816G>A	uc003smv.2	-	c.139C>T	c.(139-141)CGT>TGT	p.R47C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	47	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)							p.R47C(SNU81-Tumor)|p.R47C(HEC265-Tumor)	1492				0.44898	364.84783	365.515529	132	162	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	Missense_Mutation	SNP	2953816	2953816	2764	7	G	A	A	38	38	CARD11	A	1	1
WIPF3	644150	broad.mit.edu	36	7	29882007	29882007	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:29882007C>A	uc003taj.1	+	c.127C>A	c.(127-129)CCG>ACG	p.P43T		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	43					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	actin binding			ovary(1)	1														0.293785	121.811671	128.561339	52	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29882007	29882007	17943	7	C	A	A	30	30	WIPF3	A	3	3
WIPF3	644150	broad.mit.edu	36	7	29882078	29882078	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:29882078C>T	uc003taj.1	+	c.198C>T	c.(196-198)AAC>AAT	p.N66N		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	66					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	actin binding			ovary(1)	1														0.173913	26.157977	35.38448	16	76	CC		KEEP	---	---	---	---	capture			Silent	SNP	29882078	29882078	17943	7	C	T	T	19	19	WIPF3	T	1	1
FKBP14	55033	broad.mit.edu	36	7	30028815	30028815	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30028815C>A	uc003tal.1	-	c.340G>T	c.(340-342)GAA>TAA	p.E114*	FKBP14_uc010kvq.1_Intron	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14	114	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0														0.210526	62.303623	74.099973	32	120	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	30028815	30028815	6142	7	C	A	A	32	32	FKBP14	A	5	3
PLEKHA8	84725	broad.mit.edu	36	7	30052420	30052420	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30052420G>T	uc003tam.1	+	c.227G>T	c.(226-228)AGA>ATA	p.R76I	PLEKHA8_uc003tan.1_Missense_Mutation_p.R76I|PLEKHA8_uc003tao.1_5'UTR|PLEKHA8_uc003tap.1_Missense_Mutation_p.R76I	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	76	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4														0.207317	98.968881	118.51602	51	195	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30052420	30052420	12488	7	G	T	T	33	33	PLEKHA8	T	3	3
ZNRF2	223082	broad.mit.edu	36	7	30291929	30291929	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30291929G>A	uc003tat.1	+	c.431G>A	c.(430-432)GGC>GAC	p.G144D		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	zinc finger/RING finger 2	144						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding				0														0.230769	6.517672	7.381786	3	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30291929	30291929	18816	7	G	A	A	42	42	ZNRF2	A	2	2
NOD1	10392	broad.mit.edu	36	7	30457530	30457530	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30457530G>A	uc003tav.1	-	c.2028C>T	c.(2026-2028)TGC>TGT	p.C676C		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	676					activation of caspase activity|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)	1														0.416667	114.045451	114.701585	45	63	GG		KEEP	---	---	---	---	capture			Silent	SNP	30457530	30457530	10919	7	G	A	A	38	38	NOD1	A	1	1
NOD1	10392	broad.mit.edu	36	7	30458142	30458142	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30458142C>T	uc003tav.1	-	c.1416G>A	c.(1414-1416)GAG>GAA	p.E472E		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	472	NACHT.				activation of caspase activity|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)	1														0.198758	61.822805	75.414935	32	129	CC		KEEP	---	---	---	---	capture			Silent	SNP	30458142	30458142	10919	7	C	T	T	32	32	NOD1	T	2	2
NOD1	10392	broad.mit.edu	36	7	30463028	30463028	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30463028A>G	uc003tav.1	-	c.35T>C	c.(34-36)ATC>ACC	p.I12T	NOD1_uc003tax.1_3'UTR|NOD1_uc003tay.1_Non-coding_Transcript|NOD1_uc010kvt.1_Non-coding_Transcript|NOD1_uc010kvu.1_Non-coding_Transcript	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	12					activation of caspase activity|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)	1														0.425	265.718735	266.703017	85	115	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30463028	30463028	10919	7	A	G	G	12	12	NOD1	G	4	4
FAM188B	84182	broad.mit.edu	36	7	30797705	30797705	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30797705G>A	uc003tbt.1	+	c.1063G>A	c.(1063-1065)GCA>ACA	p.A355T	FAM188B_uc010kwe.1_Missense_Mutation_p.A326T	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	355											0														0.477612	81.973288	82.00357	32	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30797705	30797705	5725	7	G	A	A	38	38	FAM188B	A	1	1
AQP1	358	broad.mit.edu	36	7	30918136	30918136	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30918136C>T	uc003tbv.1	+	c.87C>T	c.(85-87)ATC>ATT	p.I29I		NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	29	Helical; Name=Helix 1.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)									0.476562	172.259097	172.320555	61	67	CC		KEEP	---	---	---	---	capture			Silent	SNP	30918136	30918136	832	7	C	T	T	31	31	AQP1	T	1	1
GHRHR	2692	broad.mit.edu	36	7	30980629	30980629	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30980629C>T	uc003tbx.1	+	c.812C>T	c.(811-813)GCG>GTG	p.A271V	GHRHR_uc003tbw.1_Missense_Mutation_p.A271V|GHRHR_uc003tby.1_Missense_Mutation_p.A207V|GHRHR_uc003tbz.1_Silent_p.R37R	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	271	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			large_intestine(1)|ovary(1)	2					Sermorelin(DB00010)									0.407895	167.01968	168.145889	62	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30980629	30980629	6641	7	C	T	T	27	27	GHRHR	T	1	1
GHRHR	2692	broad.mit.edu	36	7	30981956	30981956	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30981956G>A	uc003tbx.1	+	c.922G>A	c.(922-924)GTG>ATG	p.V308M	GHRHR_uc003tbw.1_Missense_Mutation_p.V308M|GHRHR_uc003tby.1_Missense_Mutation_p.V244M|GHRHR_uc003tbz.1_Missense_Mutation_p.G74D	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	308	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			large_intestine(1)|ovary(1)	2					Sermorelin(DB00010)									0.366864	168.499447	171.135342	62	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30981956	30981956	6641	7	G	A	A	44	44	GHRHR	A	2	2
CCDC129	223075	broad.mit.edu	36	7	31649621	31649621	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:31649621C>T	uc003tcj.1	+	c.2112C>T	c.(2110-2112)AGC>AGT	p.S704S	CCDC129_uc003tci.1_Silent_p.S555S|CCDC129_uc003tck.1_Silent_p.S612S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	704											0														0.289256	82.183781	86.938491	35	86	CC		KEEP	---	---	---	---	capture			Silent	SNP	31649621	31649621	2884	7	C	T	T	28	28	CCDC129	T	2	2
PDE1C	5137	broad.mit.edu	36	7	31844070	31844070	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:31844070C>T	uc003tco.1	-	c.1201G>A	c.(1201-1203)GAT>AAT	p.D401N	PDE1C_uc003tcm.1_Missense_Mutation_p.D341N|PDE1C_uc003tcn.1_Missense_Mutation_p.D341N|PDE1C_uc003tcr.1_Missense_Mutation_p.D341N|PDE1C_uc003tcs.1_Missense_Mutation_p.D341N	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent	341	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1														0.183594	198.721567	246.844509	94	418	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.216)		Missense_Mutation	SNP	31844070	31844070	12056	7	C	T	T	32	32	PDE1C	T	2	2
AVL9	23080	broad.mit.edu	36	7	32579414	32579414	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:32579414G>A	uc003tcv.1	+	c.1429G>A	c.(1429-1431)GCA>ACA	p.A477T	AVL9_uc010kwj.1_Missense_Mutation_p.A318T	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	477						integral to membrane					0														0.224242	78.503702	90.026924	37	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32579414	32579414	1249	7	G	A	A	38	38	AVL9	A	1	1
AVL9	23080	broad.mit.edu	36	7	32579498	32579498	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:32579498A>G	uc003tcv.1	+	c.1513A>G	c.(1513-1515)ATC>GTC	p.I505V	AVL9_uc010kwj.1_Missense_Mutation_p.I346V	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	505						integral to membrane					0														0.13913	54.875949	83.798657	32	198	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32579498	32579498	1249	7	A	G	G	12	12	AVL9	G	4	4
KBTBD2	25948	broad.mit.edu	36	7	32876797	32876797	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:32876797A>G	uc003tdb.1	-	c.557T>C	c.(556-558)TTA>TCA	p.L186S		NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	186											0														0.209424	104.815971	119.725583	40	151	AA		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.0499)		Missense_Mutation	SNP	32876797	32876797	8298	7	A	G	G	13	13	KBTBD2	G	4	4
FKBP9	11328	broad.mit.edu	36	7	33002346	33002346	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:33002346C>T	uc003tdh.1	+	c.1086C>T	c.(1084-1086)ATC>ATT	p.I362I		NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9	362	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14														0.202532	91.265624	110.754452	48	189	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.0156)		Silent	SNP	33002346	33002346	6153	7	C	T	T	31	31	FKBP9	T	1	1
BBS9	27241	broad.mit.edu	36	7	33270446	33270446	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:33270446G>A	uc003tdn.1	+	c.637G>A	c.(637-639)GCA>ACA	p.A213T	BBS9_uc003tdo.1_Missense_Mutation_p.A213T|BBS9_uc003tdp.1_Missense_Mutation_p.A213T|BBS9_uc003tdq.1_Missense_Mutation_p.A213T|BBS9_uc010kwn.1_Non-coding_Transcript	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	213					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4														0.443548	149.695966	150.042067	55	69	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.0894)		Missense_Mutation	SNP	33270446	33270446	1363	7	G	A	A	46	46	BBS9	A	2	2
BBS9	27241	broad.mit.edu	36	7	33358999	33358999	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:33358999G>A	uc003tdn.1	+	c.1541G>A	c.(1540-1542)CGA>CAA	p.R514Q	BBS9_uc003tdo.1_Missense_Mutation_p.R479Q|BBS9_uc003tdp.1_Intron|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.R38Q|BBS9_uc003tds.1_5'UTR	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	514					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4														0.384106	160.209785	161.98935	58	93	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.0894)		Missense_Mutation	SNP	33358999	33358999	1363	7	G	A	A	37	37	BBS9	A	1	1
BBS9	27241	broad.mit.edu	36	7	33389812	33389812	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:33389812G>A	uc003tdn.1	+	c.1799G>A	c.(1798-1800)CGC>CAC	p.R600H	BBS9_uc003tdo.1_Missense_Mutation_p.R565H|BBS9_uc003tdp.1_Missense_Mutation_p.R595H|BBS9_uc003tdq.1_Missense_Mutation_p.R560H|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.R124H|BBS9_uc003tds.1_Missense_Mutation_p.R23H|BBS9_uc003tdt.2_Non-coding_Transcript	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	600					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4														0.365385	50.109979	50.939042	19	33	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.0894)		Missense_Mutation	SNP	33389812	33389812	1363	7	G	A	A	38	38	BBS9	A	1	1
BBS9	27241	broad.mit.edu	36	7	33540240	33540240	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:33540240C>T	uc003tdn.1	+	c.2448C>T	c.(2446-2448)TGC>TGT	p.C816C	BBS9_uc003tdo.1_Silent_p.C781C|BBS9_uc003tdp.1_Silent_p.C811C|BBS9_uc003tdq.1_Silent_p.C776C|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Silent_p.C340C|BBS9_uc003tds.1_Silent_p.C239C|BBS9_uc003tdt.2_Non-coding_Transcript	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	816					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4														0.466321	251.529566	251.719709	90	103	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.0894)		Silent	SNP	33540240	33540240	1363	7	C	T	T	27	27	BBS9	T	1	1
BBS9	27241	broad.mit.edu	36	7	33611354	33611354	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:33611354C>A	uc003tdn.1	+	c.2655C>A	c.(2653-2655)GTC>GTA	p.V885V	BBS9_uc003tdo.1_Silent_p.V850V|BBS9_uc003tdp.1_Silent_p.V880V|BBS9_uc003tdq.1_Silent_p.V845V|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_3'UTR|BBS9_uc003tds.1_Silent_p.V308V|BBS9_uc003tdt.2_Intron	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	885					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4														0.423387	282.21052	283.485094	105	143	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.0894)		Silent	SNP	33611354	33611354	1363	7	C	A	A	32	32	BBS9	A	3	3
BMPER	168667	broad.mit.edu	36	7	33912988	33912988	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:33912988T>C	uc003tdw.1	+	c.167T>C	c.(166-168)GTC>GCC	p.V56A		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	56	VWFC 1.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.508876	295.565594	295.577568	86	83	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33912988	33912988	1493	7	T	C	C	58	58	BMPER	C	4	4
BMPER	168667	broad.mit.edu	36	7	33980890	33980890	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:33980890A>C	uc003tdw.1	+	c.545A>C	c.(544-546)GAA>GCA	p.E182A		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	182	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.406639	330.014911	331.847254	98	143	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33980890	33980890	1493	7	A	C	C	9	9	BMPER	C	4	4
BMPER	168667	broad.mit.edu	36	7	34085265	34085265	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:34085265C>T	uc003tdw.1	+	c.1350C>T	c.(1348-1350)CGC>CGT	p.R450R		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	450	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.427746	204.042533	204.824359	74	99	CC		KEEP	---	---	---	---	capture			Silent	SNP	34085265	34085265	1493	7	C	T	T	27	27	BMPER	T	1	1
DPY19L1	23333	broad.mit.edu	36	7	34946428	34946428	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:34946428C>T	uc003tem.2	-	c.1507G>A	c.(1507-1509)GCT>ACT	p.A503T	DPY19L1_uc003tel.1_5'Flank|DPY19L1_uc003ten.1_Non-coding_Transcript	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	dpy-19-like 1	503	Helical; (Potential).					integral to membrane					0														0.304348	65.955441	69.103793	28	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34946428	34946428	4924	7	C	T	T	25	25	DPY19L1	T	2	2
DPY19L1	23333	broad.mit.edu	36	7	34948014	34948014	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:34948014T>C	uc003tem.2	-	c.1358A>G	c.(1357-1359)TAC>TGC	p.Y453C	DPY19L1_uc003ten.1_5'Flank	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	dpy-19-like 1	453	Helical; (Potential).					integral to membrane					0														0.458333	302.001474	302.288986	88	104	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34948014	34948014	4924	7	T	C	C	57	57	DPY19L1	C	4	4
TBX20	57057	broad.mit.edu	36	7	35259683	35259683	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:35259683G>T	uc003ter.1	-	c.74C>A	c.(73-75)TCG>TAG	p.S25*	TBX20_uc010kxa.1_Nonsense_Mutation_p.S25*	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20 isoform A	25						nucleus	DNA binding			central_nervous_system(1)	1														0.252336	69.043601	74.959158	27	80	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	35259683	35259683	16182	7	G	T	T	37	37	TBX20	T	5	3
HERPUD2	64224	broad.mit.edu	36	7	35641351	35641351	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:35641351G>A	uc003tet.1	-	c.860C>T	c.(859-861)GCG>GTG	p.A287V	HERPUD2_uc003tes.2_Missense_Mutation_p.A287V	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	287					response to unfolded protein	integral to membrane				ovary(3)	3														0.545024	333.924807	334.296048	115	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35641351	35641351	7347	7	G	A	A	38	38	HERPUD2	A	1	1
EEPD1	80820	broad.mit.edu	36	7	36161100	36161100	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:36161100C>T	uc003tfa.1	+	c.642C>T	c.(640-642)ACC>ACT	p.T214T		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	214					DNA repair|protein secretion	integral to membrane	DNA binding				0														0.158537	24.454071	33.541358	13	69	CC		KEEP	---	---	---	---	capture			Silent	SNP	36161100	36161100	5119	7	C	T	T	23	23	EEPD1	T	1	1
ANLN	54443	broad.mit.edu	36	7	36405310	36405310	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:36405310G>A	uc003tff.1	+	c.270G>A	c.(268-270)TCG>TCA	p.S90S	ANLN_uc003tfg.1_Silent_p.S90S|ANLN_uc010kxe.1_Silent_p.S90S	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	90	Nuclear localization.|Interaction with CD2AP.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3														0.491525	165.840105	165.847507	58	60	GG		KEEP	---	---	---	---	capture			Silent	SNP	36405310	36405310	702	7	G	A	A	37	37	ANLN	A	1	1
ANLN	54443	broad.mit.edu	36	7	36426762	36426762	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:36426762G>A	uc003tff.1	+	c.2047G>A	c.(2047-2049)GAA>AAA	p.E683K	ANLN_uc003tfg.1_Missense_Mutation_p.E646K|ANLN_uc010kxe.1_Missense_Mutation_p.E645K	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	683					cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3														0.204878	93.3255	109.89814	42	163	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36426762	36426762	702	7	G	A	A	33	33	ANLN	A	2	2
ANLN	54443	broad.mit.edu	36	7	36431851	36431851	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:36431851C>T	uc003tff.1	+	c.2725C>T	c.(2725-2727)CGA>TGA	p.R909*	ANLN_uc003tfg.1_Nonsense_Mutation_p.R872*|ANLN_uc010kxe.1_Nonsense_Mutation_p.R871*	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	909	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3														0.387097	94.37063	95.41189	36	57	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	36431851	36431851	702	7	C	T	T	27	27	ANLN	T	5	1
ANLN	54443	broad.mit.edu	36	7	36458675	36458675	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:36458675C>A	uc003tff.1	+	c.3316C>A	c.(3316-3318)CTT>ATT	p.L1106I	ANLN_uc003tfg.1_Missense_Mutation_p.L1069I|ANLN_uc010kxe.1_Missense_Mutation_p.L1068I	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1106	PH.|Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3														0.135908	109.291359	199.138003	95	604	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36458675	36458675	702	7	C	A	A	32	32	ANLN	A	3	3
ELMO1	9844	broad.mit.edu	36	7	37231154	37231154	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37231154T>G	uc003tfk.1	-	c.556A>C	c.(556-558)AGT>CGT	p.S186R	ELMO1_uc010kxg.1_Missense_Mutation_p.S186R	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	186					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)	3														0.385714	80.202709	81.005874	27	43	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37231154	37231154	5257	7	T	G	G	56	56	ELMO1	G	4	4
GPR141	353345	broad.mit.edu	36	7	37746709	37746709	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37746709C>T	uc003tfm.1	+	c.189C>T	c.(187-189)AGC>AGT	p.S63S		NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	63	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3										74				0.494118	233.890537	233.895565	84	86	CC		KEEP	---	---	---	---	capture			Silent	SNP	37746709	37746709	6923	7	C	T	T	27	27	GPR141	T	1	1
GPR141	353345	broad.mit.edu	36	7	37747299	37747299	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37747299G>T	uc003tfm.1	+	c.779G>T	c.(778-780)AGC>ATC	p.S260I		NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	260	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3										74				0.421053	381.821516	383.582749	136	187	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37747299	37747299	6923	7	G	T	T	34	34	GPR141	T	3	3
TXNDC3	51314	broad.mit.edu	36	7	37868264	37868264	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37868264G>A	uc003tfn.1	+	c.380G>A	c.(379-381)CGA>CAA	p.R127Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	127					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						Ovarian(108;903 1537 27096 29907 47400)								0.479452	100.110814	100.137862	35	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37868264	37868264	17354	7	G	A	A	37	37	TXNDC3	A	1	1
SFRP4	6424	broad.mit.edu	36	7	37918368	37918368	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37918368G>T	uc003tfo.2	-	c.669C>A	c.(667-669)ATC>ATA	p.I223I		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4	223	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0														0.165714	45.157729	63.724302	29	146	GG		KEEP	---	---	---	---	capture			Silent	SNP	37918368	37918368	14652	7	G	T	T	33	33	SFRP4	T	3	3
SFRP4	6424	broad.mit.edu	36	7	37922640	37922640	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37922640G>A	uc003tfo.2	-	c.25C>T	c.(25-27)CTG>TTG	p.L9L		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4	9					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0														0.529412	132.47283	132.536407	45	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	37922640	37922640	14652	7	G	A	A	34	34	SFRP4	A	2	2
STARD3NL	83930	broad.mit.edu	36	7	38213825	38213825	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:38213825C>T	uc003tfr.1	+	c.195C>T	c.(193-195)TTC>TTT	p.F65F	STARD3NL_uc003tfs.1_Silent_p.F65F|STARD3NL_uc003tft.1_Silent_p.F65F	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	65	MENTAL.|Helical; (Potential).					integral to membrane|late endosome membrane				ovary(1)	1														0.382488	226.979215	229.604225	83	134	CC		KEEP	---	---	---	---	capture			Silent	SNP	38213825	38213825	15777	7	C	T	T	31	31	STARD3NL	T	1	1
TARP	445347	broad.mit.edu	36	7	38323185	38323185	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:38323185C>A	uc003tge.1	-	c.324G>T	c.(322-324)GAG>GAT	p.E108D	TARP_uc003tgf.1_Non-coding_Transcript|TARP_uc003tgj.1_Non-coding_Transcript|TARP_uc003tgh.1_Non-coding_Transcript|TARP_uc003tgi.1_Non-coding_Transcript|TARP_uc003tgg.1_Non-coding_Transcript			A2JGV3	A2JGV3_HUMAN	TRGV9 protein (Fragment).	Error:Variant_position_missing_in_A2JGV3_after_alignment											0														0.229358	51.911182	59.239454	25	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38323185	38323185	16080	7	C	A	A	32	32	TARP	A	3	3
VPS41	27072	broad.mit.edu	36	7	38734701	38734701	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:38734701G>A	uc003tgy.1	-	c.2370C>T	c.(2368-2370)ATC>ATT	p.I790I	VPS41_uc003tgz.1_Silent_p.I765I|VPS41_uc010kxn.1_Silent_p.I701I|VPS41_uc003tgx.1_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	790					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			central_nervous_system(1)	1														0.4625	331.486166	331.781562	111	129	GG		KEEP	---	---	---	---	capture			Silent	SNP	38734701	38734701	17777	7	G	A	A	33	33	VPS41	A	2	2
RALA	5898	broad.mit.edu	36	7	39702852	39702852	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:39702852C>A	uc003thd.1	+	c.367C>A	c.(367-369)CTA>ATA	p.L123I		NM_005402	NP_005393	P11233	RALA_HUMAN	ras related v-ral simian leukemia viral oncogene	123					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			lung(1)|skin(1)	2										17				0.185185	35.431949	45.474611	20	88	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39702852	39702852	13470	7	C	A	A	32	32	RALA	A	3	3
CDK13	8621	broad.mit.edu	36	7	39993824	39993824	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:39993824T>G	uc003thh.2	+	c.1313T>G	c.(1312-1314)ATT>AGT	p.I438S	CDK13_uc003thi.2_Missense_Mutation_p.I438S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	438					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|ovary(1)|skin(1)	4										238				0.426396	275.476807	276.40595	84	113	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39993824	39993824	3258	7	T	G	G	52	52	CDK13	G	4	4
SDK1	221935	broad.mit.edu	36	7	4073998	4073998	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:4073998C>T	uc003smx.1	+	c.2914C>T	c.(2914-2916)CCA>TCA	p.P972S	SDK1_uc010kso.1_Missense_Mutation_p.P248S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 isoform 1	972	Fibronectin type-III 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)												0.166667	15.166292	20.836545	9	45	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	Missense_Mutation	SNP	4073998	4073998	14454	7	C	T	T	18	18	SDK1	T	2	2
SDK1	221935	broad.mit.edu	36	7	4120232	4120232	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:4120232C>T	uc003smx.1	+	c.3623C>T	c.(3622-3624)TCC>TTC	p.S1208F	SDK1_uc010kso.1_Missense_Mutation_p.S484F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 isoform 1	1208	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)												0.340278	127.82338	131.07413	49	95	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	Missense_Mutation	SNP	4120232	4120232	14454	7	C	T	T	30	30	SDK1	T	2	2
SDK1	221935	broad.mit.edu	36	7	4120294	4120294	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:4120294G>A	uc003smx.1	+	c.3685G>A	c.(3685-3687)GTC>ATC	p.V1229I	SDK1_uc010kso.1_Missense_Mutation_p.V505I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 isoform 1	1229	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)												0.26087	96.27192	104.610506	42	119	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	Missense_Mutation	SNP	4120294	4120294	14454	7	G	A	A	40	40	SDK1	A	1	1
INHBA	3624	broad.mit.edu	36	7	41695864	41695864	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:41695864C>T	uc003thq.1	-	c.1190G>A	c.(1189-1191)AGA>AAA	p.R397K	INHBA_uc003thr.1_Missense_Mutation_p.R397K	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	397					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|regulation of gene-specific transcription from RNA polymerase II promoter	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity|transcription activator activity			lung(5)|ovary(1)	6										102	TSP Lung(11;0.080)			0.166667	57.670109	77.907248	32	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41695864	41695864	8042	7	C	T	T	32	32	INHBA	T	2	2
GLI3	2737	broad.mit.edu	36	7	41973917	41973917	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:41973917C>T	uc003thu.2	-	c.2233G>A	c.(2233-2235)GAT>AAT	p.D745N		NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	745					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 gene-specific 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|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8										806				0.175097	77.947332	103.521291	45	212	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41973917	41973917	6707	7	C	T	T	31	31	GLI3	T	1	1
GLI3	2737	broad.mit.edu	36	7	42032507	42032507	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:42032507G>A	uc003thu.2	-	c.1058C>T	c.(1057-1059)GCG>GTG	p.A353V		NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	353					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 gene-specific 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|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8									p.A353K(HUG1N-Tumor)	806				0.383838	97.215552	98.390072	38	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42032507	42032507	6707	7	G	A	A	38	38	GLI3	A	1	1
GLI3	2737	broad.mit.edu	36	7	42046289	42046289	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:42046289C>T	uc003thu.2	-	c.901G>A	c.(901-903)GAT>AAT	p.D301N		NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	301					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 gene-specific 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|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8									p.D301N(HEC251-Tumor)	806				0.175824	58.281236	76.322317	32	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42046289	42046289	6707	7	C	T	T	31	31	GLI3	T	1	1
C7orf25	79020	broad.mit.edu	36	7	42915819	42915819	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:42915819C>A	uc003thx.2	-	c.1380G>T	c.(1378-1380)GAG>GAT	p.E460D	C7orf25_uc003thw.1_Missense_Mutation_p.E402D|C7orf25_uc010kxq.1_Missense_Mutation_p.E402D|C7orf25_uc010kxr.1_Missense_Mutation_p.E460D|C7orf25_uc010kxs.1_Missense_Mutation_p.E402D	NM_001099858	NP_001093328	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 a	402											0														0.217195	94.864116	111.180992	48	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42915819	42915819	2487	7	C	A	A	32	32	C7orf25	A	3	3
HECW1	23072	broad.mit.edu	36	7	43469884	43469884	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43469884G>A	uc003tid.1	+	c.2752G>A	c.(2752-2754)GGG>AGG	p.G918R		NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	918					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.42	299.312314	300.712651	105	145	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43469884	43469884	7325	7	G	A	A	35	35	HECW1	A	2	2
HECW1	23072	broad.mit.edu	36	7	43558356	43558356	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43558356C>T	uc003tid.1	+	c.4406C>T	c.(4405-4407)TCG>TTG	p.S1469L		NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1469	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.41875	185.686623	186.610795	67	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43558356	43558356	7325	7	C	T	T	31	31	HECW1	T	1	1
HECW1	23072	broad.mit.edu	36	7	43560840	43560840	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43560840C>T	uc003tid.1	+	c.4635C>T	c.(4633-4635)TTC>TTT	p.F1545F		NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1545	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.212963	48.970962	57.19029	23	85	CC		KEEP	---	---	---	---	capture			Silent	SNP	43560840	43560840	7325	7	C	T	T	31	31	HECW1	T	1	1
STK17A	9263	broad.mit.edu	36	7	43630934	43630934	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43630934C>T	uc003tih.1	+	c.1213C>T	c.(1213-1215)CTA>TTA	p.L405L	C7orf44_uc003til.1_Intron|C7orf44_uc003tik.2_Intron|C7orf44_uc003tii.2_Intron|C7orf44_uc003tij.2_Intron|C7orf44_uc010kxu.1_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	405					apoptosis|induction of apoptosis|intracellular protein kinase cascade|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity				0										120				0.202899	60.023599	71.33649	28	110	CC		KEEP	---	---	---	---	capture			Silent	SNP	43630934	43630934	15810	7	C	T	T	28	28	STK17A	T	2	2
BLVRA	644	broad.mit.edu	36	7	43809937	43809937	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43809937A>G	uc003tir.1	+	c.598A>G	c.(598-600)AAA>GAA	p.K200E	BLVRA_uc010kxv.1_Missense_Mutation_p.K200E	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A	200					heme catabolic process|oxidation-reduction process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)									0.223837	208.555506	232.626103	77	267	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43809937	43809937	1476	7	A	G	G	9	9	BLVRA	G	4	4
URGCP	55665	broad.mit.edu	36	7	43883597	43883597	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43883597C>T	uc003tiw.1	-	c.1990G>A	c.(1990-1992)GAT>AAT	p.D664N	URGCP_uc003tiv.1_Missense_Mutation_p.D589N|URGCP_uc003tix.1_Missense_Mutation_p.D655N|URGCP_uc003tiy.1_Missense_Mutation_p.D621N|URGCP_uc003tiz.1_Missense_Mutation_p.D621N|URGCP_uc003tiu.1_Missense_Mutation_p.D621N	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	664					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)	3														0.232759	56.144865	63.773566	27	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43883597	43883597	17588	7	C	T	T	31	31	URGCP	T	1	1
SPDYE1	285955	broad.mit.edu	36	7	44013590	44013590	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44013590T>C	uc003tjf.1	+	c.831T>C	c.(829-831)CGT>CGC	p.R277R	POLR2J4_uc003tjc.1_Intron|POLR2J4_uc003tjd.1_Intron|POLR2J4_uc010kxw.1_Intron|POLR2J4_uc003tje.2_Intron	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Williams Beuren syndrome chromosome region 19	277	Arg-rich.									ovary(1)	1														0.207824	216.620053	249.010054	85	324	TT		KEEP	---	---	---	---	capture			Silent	SNP	44013590	44013590	15539	7	T	C	C	60	60	SPDYE1	C	4	4
AEBP1	165	broad.mit.edu	36	7	44115082	44115082	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44115082G>A	uc003tkb.1	+	c.1000G>A	c.(1000-1002)GAA>AAA	p.E334K	AEBP1_uc003tkc.2_5'Flank|AEBP1_uc003tkd.1_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	334					cell adhesion|muscle organ development|proteolysis|regulation of transcription, DNA-dependent|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.241379	14.215431	15.982677	7	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44115082	44115082	350	7	G	A	A	37	37	AEBP1	A	1	1
GCK	2645	broad.mit.edu	36	7	44151781	44151781	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44151781C>T	uc003tkk.1	-	c.1096G>A	c.(1096-1098)GAC>AAC	p.D366N	GCK_uc003tkl.2_Missense_Mutation_p.D365N|GCK_uc003tkh.1_Missense_Mutation_p.D38N|GCK_uc003tki.1_Missense_Mutation_p.D43N|GCK_uc003tkj.1_Missense_Mutation_p.D364N	NM_033507	NP_277042	P35557	HXK4_HUMAN	glucokinase isoform 2	365					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			lung(1)|skin(1)	2										356				0.45	47.642624	47.729691	18	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44151781	44151781	6559	7	C	T	T	31	31	GCK	T	1	1
NUDCD3	23386	broad.mit.edu	36	7	44398493	44398493	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44398493T>C	uc003tkz.1	-	c.903A>G	c.(901-903)GAA>GAG	p.E301E	NUDCD3_uc010kye.1_Non-coding_Transcript	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	301							protein binding				0														0.176471	100.218843	125.390341	45	210	TT		KEEP	---	---	---	---	capture			Silent	SNP	44398493	44398493	11129	7	T	C	C	60	60	NUDCD3	C	4	4
DDX56	54606	broad.mit.edu	36	7	44578733	44578733	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44578733G>T	uc003tlg.1	-	c.519C>A	c.(517-519)TCC>TCA	p.S173S	DDX56_uc003tle.1_Non-coding_Transcript|DDX56_uc003tlf.1_Silent_p.S109S|DDX56_uc003tlh.1_Non-coding_Transcript|DDX56_uc010kyg.1_Silent_p.S173S|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	173	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding				0														0.158358	78.492474	116.495045	54	287	GG		KEEP	---	---	---	---	capture			Silent	SNP	44578733	44578733	4545	7	G	T	T	35	35	DDX56	T	3	3
TMED4	222068	broad.mit.edu	36	7	44585734	44585734	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44585734G>A	uc003tli.1	-	c.553C>T	c.(553-555)CGA>TGA	p.R185*		NM_182547	NP_872353	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain	185	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity				0														0.215569	83.026473	95.482642	36	131	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	44585734	44585734	16536	7	G	A	A	39	39	TMED4	A	5	1
OGDH	4967	broad.mit.edu	36	7	44679952	44679952	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44679952C>A	uc003tln.1	+	c.675C>A	c.(673-675)ATC>ATA	p.I225I	OGDH_uc003tlo.1_Silent_p.I58I|OGDH_uc003tlp.1_Silent_p.I58I|OGDH_uc003tlm.1_Silent_p.I225I	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase	225					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)	1					NADH(DB00157)									0.247706	118.323982	130.967906	54	164	CC		KEEP	---	---	---	---	capture			Silent	SNP	44679952	44679952	11244	7	C	A	A	29	29	OGDH	A	3	3
ZMIZ2	83637	broad.mit.edu	36	7	44764153	44764153	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44764153G>A	uc003tlr.1	+	c.734G>A	c.(733-735)CGT>CAT	p.R245H	ZMIZ2_uc003tlq.1_Missense_Mutation_p.R213H|ZMIZ2_uc003tls.1_Missense_Mutation_p.R245H|ZMIZ2_uc003tlt.1_5'Flank|ZMIZ2_uc010kyj.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	245	Pro-rich.				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						NSCLC(20;604 852 1948 16908 50522)								0.165775	51.362836	71.141154	31	156	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44764153	44764153	18288	7	G	A	A	40	40	ZMIZ2	A	1	1
MYO1G	64005	broad.mit.edu	36	7	44976191	44976191	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44976191G>A	uc003tmh.1	-	c.1305C>T	c.(1303-1305)TAC>TAT	p.Y435Y	MYO1G_uc003tmf.1_5'Flank|MYO1G_uc003tmg.1_Silent_p.Y197Y|MYO1G_uc010kym.1_Silent_p.Y320Y|MYO1G_uc003tmi.1_Silent_p.Y347Y|MYO1G_uc003tmj.1_Silent_p.Y197Y	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	435	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|pancreas(1)	3														0.555556	116.201667	116.394818	40	32	GG		KEEP	---	---	---	---	capture			Silent	SNP	44976191	44976191	10469	7	G	A	A	40	40	MYO1G	A	1	1
CCM2	83605	broad.mit.edu	36	7	45044460	45044460	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45044460G>A	uc003tms.1	+	c.177G>A	c.(175-177)GAG>GAA	p.E59E	CCM2_uc003tmn.1_Non-coding_Transcript|CCM2_uc003tmo.1_Silent_p.E38E|CCM2_uc003tmp.1_Intron|CCM2_uc003tmq.1_Non-coding_Transcript|CCM2_uc003tmr.1_Silent_p.E38E	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 1	38					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0														0.253165	99.917612	108.663509	40	118	GG		KEEP	---	---	---	---	capture			Silent	SNP	45044460	45044460	3035	7	G	A	A	33	33	CCM2	A	2	2
CCM2	83605	broad.mit.edu	36	7	45076019	45076019	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45076019G>A	uc003tms.1	+	c.742G>A	c.(742-744)GAC>AAC	p.D248N	CCM2_uc003tmn.1_Non-coding_Transcript|CCM2_uc003tmo.1_Missense_Mutation_p.D227N|CCM2_uc003tmp.1_Missense_Mutation_p.D169N|CCM2_uc003tmq.1_Non-coding_Transcript|CCM2_uc003tmr.1_Intron	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 1	227	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0														0.186275	69.122585	87.961908	38	166	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45076019	45076019	3035	7	G	A	A	37	37	CCM2	A	1	1
RAMP3	10268	broad.mit.edu	36	7	45189311	45189311	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45189311G>T	uc003tnb.1	+	c.222G>T	c.(220-222)GAG>GAT	p.E74D	RAMP3_uc003tnc.1_Missense_Mutation_p.E42D	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	74	Extracellular (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)									0.189189	75.2039	95.287123	42	180	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45189311	45189311	13483	7	G	T	T	33	33	RAMP3	T	3	3
RAMP3	10268	broad.mit.edu	36	7	45189522	45189522	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45189522G>A	uc003tnb.1	+	c.433G>A	c.(433-435)GAC>AAC	p.D145N	RAMP3_uc003tnc.1_Missense_Mutation_p.D113N	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	145	Cytoplasmic (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)									0.231481	152.725249	174.171621	75	249	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45189522	45189522	13483	7	G	A	A	37	37	RAMP3	A	1	1
ADCY1	107	broad.mit.edu	36	7	45714583	45714583	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45714583G>A	uc003tne.2	+	c.2927G>A	c.(2926-2928)CGA>CAA	p.R976Q		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	brain adenylate cyclase 1	976	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.15625	30.30939	44.75943	20	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45714583	45714583	293	7	G	A	A	37	37	ADCY1	A	1	1
TNS3	64759	broad.mit.edu	36	7	47374682	47374682	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47374682C>T	uc003tnv.1	-	c.2086G>A	c.(2086-2088)GAC>AAC	p.D696N	TNS3_uc003tnw.1_Missense_Mutation_p.D696N	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	696						focal adhesion	protein binding			ovary(4)	4														0.229481	283.038528	323.078123	137	460	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47374682	47374682	16885	7	C	T	T	31	31	TNS3	T	1	1
TNS3	64759	broad.mit.edu	36	7	47421217	47421217	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47421217C>A	uc003tnv.1	-	c.586G>T	c.(586-588)GTG>TTG	p.V196L	TNS3_uc003tnw.1_Missense_Mutation_p.V196L|TNS3_uc010kyo.1_Missense_Mutation_p.V196L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	196	C2 tensin-type.					focal adhesion	protein binding			ovary(4)	4														0.395349	44.859191	45.273205	17	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47421217	47421217	16885	7	C	A	A	24	24	TNS3	A	3	3
TNS3	64759	broad.mit.edu	36	7	47434498	47434498	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47434498C>T	uc003tnv.1	-	c.326G>A	c.(325-327)GGC>GAC	p.G109D	TNS3_uc003tnw.1_Missense_Mutation_p.G109D|TNS3_uc010kyo.1_Missense_Mutation_p.G109D	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	109	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4														0.369792	194.640622	197.474896	71	121	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47434498	47434498	16885	7	C	T	T	26	26	TNS3	T	2	2
PKD1L1	168507	broad.mit.edu	36	7	47872706	47872706	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47872706G>T	uc003tny.1	-	c.3928C>A	c.(3928-3930)CTC>ATC	p.L1310I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1310	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.1875	85.944076	107.887323	45	195	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47872706	47872706	12388	7	G	T	T	35	35	PKD1L1	T	3	3
KIAA0415	9907	broad.mit.edu	36	7	4787362	4787362	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:4787362C>A	uc003sne.1	+	c.72C>A	c.(70-72)TTC>TTA	p.F24L	KIAA0415_uc010ksp.1_Non-coding_Transcript	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	24					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)												0.470149	171.299932	171.404755	63	71	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	Missense_Mutation	SNP	4787362	4787362	8482	7	C	A	A	32	32	KIAA0415	A	3	3
PKD1L1	168507	broad.mit.edu	36	7	47921636	47921636	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47921636G>T	uc003tny.1	-	c.1146C>A	c.(1144-1146)TAC>TAA	p.Y382*		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	382	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.150442	59.219953	85.672932	34	192	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	47921636	47921636	12388	7	G	T	T	36	36	PKD1L1	T	5	3
PKD1L1	168507	broad.mit.edu	36	7	47946435	47946435	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47946435G>T	uc003tny.1	-	c.165C>A	c.(163-165)GTC>GTA	p.V55V	HUS1_uc003toc.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	55	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.166667	24.772845	36.170767	18	90	GG		KEEP	---	---	---	---	capture			Silent	SNP	47946435	47946435	12388	7	G	T	T	33	33	PKD1L1	T	3	3
HUS1	3364	broad.mit.edu	36	7	47971481	47971481	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47971481G>T	uc003tod.1	-	c.840C>A	c.(838-840)TCC>TCA	p.S280S	HUS1_uc003toc.1_Non-coding_Transcript|HUS1_uc003toe.1_Silent_p.S280S	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	280					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(1)|lung(1)|kidney(1)	3		Breast(660;0.00139)				Ovarian(103;466 1517 21788 34610 43890)								0.17094	33.120755	45.10969	20	97	GG		KEEP	---	---	---	---	capture			Silent	SNP	47971481	47971481	7759	7	G	T	T	35	35	HUS1	T	3	3
SUN3	256979	broad.mit.edu	36	7	48002158	48002158	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48002158G>T	uc003tof.1	-	c.688C>A	c.(688-690)CTT>ATT	p.L230I	SUN3_uc010kyq.1_Missense_Mutation_p.L130I|SUN3_uc003tog.1_Missense_Mutation_p.L230I	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	230	SUN.					integral to membrane				central_nervous_system(1)	1														0.163934	62.226983	88.425899	40	204	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48002158	48002158	15913	7	G	T	T	33	33	SUN3	T	3	3
SUN3	256979	broad.mit.edu	36	7	48013418	48013418	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48013418G>A	uc003tof.1	-	c.361C>T	c.(361-363)CGT>TGT	p.R121C	SUN3_uc010kyq.1_Missense_Mutation_p.R21C|SUN3_uc003tog.1_Missense_Mutation_p.R121C	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	121	Potential.					integral to membrane				central_nervous_system(1)	1														0.198276	44.05275	53.891893	23	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48013418	48013418	15913	7	G	A	A	37	37	SUN3	A	1	1
SUN3	256979	broad.mit.edu	36	7	48034989	48034989	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48034989G>A	uc003tof.1	-	c.72C>T	c.(70-72)AGC>AGT	p.S24S	SUN3_uc003tog.1_Silent_p.S24S	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	24						integral to membrane				central_nervous_system(1)	1														0.456693	313.670757	314.083862	116	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	48034989	48034989	15913	7	G	A	A	38	38	SUN3	A	1	1
C7orf57	136288	broad.mit.edu	36	7	48052682	48052682	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48052682G>A	uc003toh.2	+	c.451G>A	c.(451-453)GAC>AAC	p.D151N	C7orf57_uc003toi.2_Missense_Mutation_p.D25N	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	hypothetical protein LOC136288	151										ovary(1)	1														0.509804	74.244986	74.249145	26	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48052682	48052682	2511	7	G	A	A	37	37	C7orf57	A	1	1
UPP1	7378	broad.mit.edu	36	7	48113523	48113523	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48113523G>T	uc003toj.1	+	c.687G>T	c.(685-687)GAG>GAT	p.E229D	UPP1_uc003tok.1_Missense_Mutation_p.E229D|UPP1_uc003tol.1_Missense_Mutation_p.E229D|UPP1_uc003tom.1_Non-coding_Transcript|UPP1_uc003ton.1_Missense_Mutation_p.E92D|UPP1_uc003too.1_Missense_Mutation_p.E92D	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1	229					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0														0.3125	82.373876	85.885311	35	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48113523	48113523	17573	7	G	T	T	33	33	UPP1	T	3	3
RADIL	55698	broad.mit.edu	36	7	4823496	4823496	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:4823496G>A	uc003snj.1	-	c.1628C>T	c.(1627-1629)TCG>TTG	p.S543L	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.S48L	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	543	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			central_nervous_system(2)|pancreas(2)|breast(1)	5		Ovarian(82;0.0175)												0.450704	84.784429	84.935264	32	39	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	Missense_Mutation	SNP	4823496	4823496	13457	7	G	A	A	37	37	RADIL	A	1	1
ABCA13	154664	broad.mit.edu	36	7	48288385	48288385	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48288385G>T	uc003toq.1	+	c.6883G>T	c.(6883-6885)GAA>TAA	p.E2295*		NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2350					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.12963	7.78349	14.999345	7	47	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	48288385	48288385	32	7	G	T	T	33	33	ABCA13	T	5	3
ABCA13	154664	broad.mit.edu	36	7	48491299	48491299	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48491299T>C	uc003toq.1	+	c.12929_splice	c.e44+2	p.R4310_splice	ABCA13_uc010kys.1_Splice_Site_SNP_p.R1440_splice|ABCA13_uc010kyt.1_Splice_Site_SNP|ABCA13_uc010kyu.1_Splice_Site_SNP_p.R95_splice	NM_152701	NP_689914			ATP binding cassette, sub-family A (ABC1),						transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.238095	11.164859	12.480637	5	16	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	48491299	48491299	32	7	T	C	C	59	59	ABCA13	C	5	4
ABCA13	154664	broad.mit.edu	36	7	48604914	48604914	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48604914G>A	uc003toq.1	+	c.14538G>A	c.(14536-14538)AAG>AAA	p.K4846K	ABCA13_uc010kys.1_Silent_p.K1976K|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.K631K	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4901	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.186047	106.542702	130.377709	48	210	GG		KEEP	---	---	---	---	capture			Silent	SNP	48604914	48604914	32	7	G	A	A	35	35	ABCA13	A	2	2
PAPOLB	56903	broad.mit.edu	36	7	4866456	4866456	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:4866456C>A	uc003snk.1	-	c.1512G>T	c.(1510-1512)CAG>CAT	p.Q504H	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	503					mRNA processing|RNA polyadenylation	nucleus	ATP binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)												0.503356	211.506983	211.508301	75	74	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	Missense_Mutation	SNP	4866456	4866456	11847	7	C	A	A	24	24	PAPOLB	A	3	3
ZPBP	11055	broad.mit.edu	36	7	50099818	50099818	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:50099818C>T	uc003tou.1	-	c.161G>A	c.(160-162)CGC>CAC	p.R54H	ZPBP_uc010kyw.1_Missense_Mutation_p.R54H	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	54					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)													0.22973	36.034285	40.992923	17	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50099818	50099818	18823	7	C	T	T	27	27	ZPBP	T	1	1
IKZF1	10320	broad.mit.edu	36	7	50422569	50422569	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:50422569C>T	uc003tow.2	+	c.622C>T	c.(622-624)CGA>TGA	p.R208*	IKZF1_uc003tox.2_Intron|IKZF1_uc003toy.2_Intron|IKZF1_uc003toz.2_Nonsense_Mutation_p.R178*|IKZF1_uc010kyx.1_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	208	C2H2-type 4.				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(60)		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)								226				0.270833	31.667691	33.932853	13	35	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	50422569	50422569	7915	7	C	T	T	23	23	IKZF1	T	5	1
GRB10	2887	broad.mit.edu	36	7	50630665	50630665	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:50630665C>T	uc003tpi.1	-	c.1601G>A	c.(1600-1602)TGT>TAT	p.C534Y	GRB10_uc003tph.2_Missense_Mutation_p.C476Y|GRB10_uc003tpj.1_Missense_Mutation_p.C488Y|GRB10_uc003tpk.1_Missense_Mutation_p.C534Y|GRB10_uc010kzb.1_Missense_Mutation_p.C476Y|GRB10_uc003tpl.1_Missense_Mutation_p.C528Y|GRB10_uc003tpm.1_Missense_Mutation_p.C476Y|GRB10_uc003tpn.1_Missense_Mutation_p.C476Y	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	534	SH2.				insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|ovary(1)	2	Glioma(55;0.08)|all_neural(89;0.245)													0.168889	122.788779	169.541818	76	374	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50630665	50630665	7033	7	C	T	T	17	17	GRB10	T	2	2
RBAK	57786	broad.mit.edu	36	7	5070648	5070648	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5070648C>T	uc010kss.1	+	c.1035C>T	c.(1033-1035)TAC>TAT	p.Y345Y	LOC389458_uc003snr.1_Intron|RBAK_uc003sns.1_Silent_p.Y345Y	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	345	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription repressor activity|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)												0.169014	100.272805	137.107374	60	295	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	Silent	SNP	5070648	5070648	13561	7	C	T	T	19	19	RBAK	T	1	1
RBAK	57786	broad.mit.edu	36	7	5071039	5071039	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5071039C>T	uc010kss.1	+	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W	LOC389458_uc003snr.1_Intron|RBAK_uc003sns.1_Missense_Mutation_p.R476W	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	476	C2H2-type 8.|Interaction with AR.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription repressor activity|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)												0.180645	50.902942	65.770576	28	127	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	Missense_Mutation	SNP	5071039	5071039	13561	7	C	T	T	31	31	RBAK	T	1	1
RBAK	57786	broad.mit.edu	36	7	5071386	5071386	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5071386C>T	uc010kss.1	+	c.1773C>T	c.(1771-1773)GGC>GGT	p.G591G	LOC389458_uc003snr.1_Intron|RBAK_uc003sns.1_Silent_p.G591G	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	591	Interaction with AR.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription repressor activity|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)												0.192	44.32305	55.405905	24	101	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	Silent	SNP	5071386	5071386	13561	7	C	T	T	27	27	RBAK	T	1	1
COBL	23242	broad.mit.edu	36	7	51063079	51063079	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:51063079G>A	uc003tpr.2	-	c.3208C>T	c.(3208-3210)CCC>TCC	p.P1070S	COBL_uc003tpp.2_Missense_Mutation_p.P856S|COBL_uc003tpq.2_Missense_Mutation_p.P1011S|COBL_uc003tps.1_Missense_Mutation_p.P1043S|COBL_uc003tpo.2_Missense_Mutation_p.P612S	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	1070										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.169492	85.417937	115.884492	50	245	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51063079	51063079	3791	7	G	A	A	42	42	COBL	A	2	2
COBL	23242	broad.mit.edu	36	7	51063730	51063730	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:51063730C>A	uc003tpr.2	-	c.2557G>T	c.(2557-2559)GAA>TAA	p.E853*	COBL_uc003tpp.2_Nonsense_Mutation_p.E639*|COBL_uc003tpq.2_Nonsense_Mutation_p.E794*|COBL_uc003tps.1_Nonsense_Mutation_p.E826*|COBL_uc003tpo.2_Nonsense_Mutation_p.E395*	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	853										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.431818	195.827913	196.548618	76	100	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	51063730	51063730	3791	7	C	A	A	32	32	COBL	A	5	3
COBL	23242	broad.mit.edu	36	7	51226142	51226142	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:51226142A>G	uc003tpr.2	-	c.584T>C	c.(583-585)GTG>GCG	p.V195A	COBL_uc003tpp.2_5'UTR|COBL_uc003tpq.2_Missense_Mutation_p.V111A|COBL_uc003tps.1_Missense_Mutation_p.V111A|COBL_uc010kzc.1_Missense_Mutation_p.V195A|COBL_uc003tpt.2_Missense_Mutation_p.V195A	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	195										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.358209	71.888904	73.071863	24	43	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51226142	51226142	3791	7	A	G	G	6	6	COBL	G	4	4
WIPI2	26100	broad.mit.edu	36	7	5196609	5196609	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5196609C>T	uc003snv.1	+	c.33C>T	c.(31-33)GGC>GGT	p.G11G	WIPI2_uc003snw.1_Silent_p.G11G|WIPI2_uc003snx.1_Silent_p.G11G|WIPI2_uc003sny.1_Silent_p.G11G|WIPI2_uc010ksv.1_5'UTR	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	11					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)												0.3	6.840349	7.186962	3	7	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	Silent	SNP	5196609	5196609	17945	7	C	T	T	27	27	WIPI2	T	1	1
WIPI2	26100	broad.mit.edu	36	7	5199312	5199312	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5199312C>A	uc003snv.1	+	c.112C>A	c.(112-114)CGT>AGT	p.R38S	WIPI2_uc003snw.1_Missense_Mutation_p.R38S|WIPI2_uc003snx.1_Intron|WIPI2_uc003sny.1_Intron|WIPI2_uc010ksv.1_5'UTR	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	38					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)												0.349398	249.264581	254.241145	87	162	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	Missense_Mutation	SNP	5199312	5199312	17945	7	C	A	A	23	23	WIPI2	A	3	3
SLC29A4	222962	broad.mit.edu	36	7	5306758	5306758	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5306758C>T	uc003sod.1	+	c.1389C>T	c.(1387-1389)TTC>TTT	p.F463F	SLC29A4_uc003soc.1_Silent_p.F463F|SLC29A4_uc003soe.1_Silent_p.F449F|SLC29A4_uc010ksw.1_Intron	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	463	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)												0.516981	383.362278	383.428924	137	128	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Silent	SNP	5306758	5306758	15034	7	C	T	T	31	31	SLC29A4	T	1	1
POM121L12	285877	broad.mit.edu	36	7	53071282	53071282	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:53071282G>A	uc003tpz.1	+	c.424G>A	c.(424-426)GCG>ACG	p.A142T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	hypothetical protein LOC285877	142											0														0.222222	27.146929	31.600698	14	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53071282	53071282	12669	7	G	A	A	38	38	POM121L12	A	1	1
EGFR	1956	broad.mit.edu	36	7	55200532	55200532	+	Silent	SNP	G	T	T	rs17290162	by-frequency	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200532G>T	uc003tqk.1	+	c.1788G>T	c.(1786-1788)CCG>CCT	p.P596P	EGFR_uc003tqi.1_Silent_p.P596P|EGFR_uc003tqj.1_Silent_p.P596P|EGFR_uc010kzg.1_Silent_p.P551P|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	596	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8	p.P596P(NCIH1339-Tumor)|p.P596P(697-Tumor)|p.P596P(HCC15-Tumor)	608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.394089	224.549551	226.544479	80	123	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Silent	SNP	55200532	55200532	5156	7	G	T	T	39	39	EGFR	T	3	3
EGFR	1956	broad.mit.edu	36	7	55209983	55209983	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55209983G>A	uc003tqk.1	+	c.2259G>A	c.(2257-2259)CCG>CCA	p.P753P	EGFR_uc010kzg.1_Silent_p.P708P	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	753	Cytoplasmic (Potential).|Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L747_P753>S(51)|p.L747_P753del(19)|p.S752_I759del(15)|p.L747_P753>Q(11)|p.T751_I759>N(5)|p.E746_P753>VS(4)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.A750_K757del(2)|p.A750_E758del(2)|p.E746_P753del(2)|p.T751_I759>NKA(2)|p.T751_E758del(2)|p.L747_K754>ST(1)|p.T751_E758>A(1)|p.T751_I759>REA(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.P753F(1)|p.L747_A755>SKS(1)|p.L747_K754>N(1)|p.A750_K754del(1)|p.L747_K754del(1)|p.L747_N756>SKDD(1)|p.E749_P753>Q(1)|p.L747_P753>CG(1)|p.S752_V769del(1)|p.P753P(1)|p.R748_P753del(1)|p.E749_E758>QP(1)|p.P753S(1)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.217172	90.008958	104.640127	43	155	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Silent	SNP	55209983	55209983	5156	7	G	A	A	37	37	EGFR	A	1	1
EGFR	1956	broad.mit.edu	36	7	55237744	55237744	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55237744G>A	uc003tqk.1	+	c.3203G>A	c.(3202-3204)CGA>CAA	p.R1068Q	EGFR_uc010kzg.1_Missense_Mutation_p.R1023Q	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	1068	Cytoplasmic (Potential).|Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.212121	27.605127	32.674063	14	52	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55237744	55237744	5156	7	G	A	A	37	37	EGFR	A	1	1
LANCL2	55915	broad.mit.edu	36	7	55433742	55433742	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55433742C>A	uc003tqp.1	+	c.455C>A	c.(454-456)GCT>GAT	p.A152D		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	152					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)	1	Breast(14;0.0379)													0.204545	70.685941	84.959194	36	140	CC		KEEP	---	---	---	---	capture	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		Missense_Mutation	SNP	55433742	55433742	8944	7	C	A	A	28	28	LANCL2	A	3	3
LANCL2	55915	broad.mit.edu	36	7	55460486	55460486	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55460486G>A	uc003tqp.1	+	c.1054G>A	c.(1054-1056)GAT>AAT	p.D352N		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	352					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)	1	Breast(14;0.0379)													0.257426	120.901623	131.679451	52	150	GG		KEEP	---	---	---	---	capture	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		Missense_Mutation	SNP	55460486	55460486	8944	7	G	A	A	37	37	LANCL2	A	1	1
SEPT14	346288	broad.mit.edu	36	7	55831264	55831264	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55831264C>T	uc003tqz.2	-	c.1135G>A	c.(1135-1137)GAG>AAG	p.E379K		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	379	Potential.				cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)													0.288136	40.754199	43.127298	17	42	CC		KEEP	---	---	---	---	capture	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		Missense_Mutation	SNP	55831264	55831264	14549	7	C	T	T	31	31	SEPT14	T	1	1
SEPT14	346288	broad.mit.edu	36	7	55840529	55840529	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55840529A>G	uc003tqz.2	-	c.1035T>C	c.(1033-1035)TGT>TGC	p.C345C		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	345	Potential.				cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)													0.318841	66.431302	68.440733	22	47	AA		KEEP	---	---	---	---	capture	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		Silent	SNP	55840529	55840529	14549	7	A	G	G	10	10	SEPT14	G	4	4
ZNF713	349075	broad.mit.edu	36	7	55958801	55958801	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55958801G>A	uc003tra.1	+	c.183G>A	c.(181-183)CAG>CAA	p.Q61Q	MRPS17_uc003trb.1_Silent_p.Q61Q|ZNF713_uc003trc.1_Silent_p.Q61Q	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)													0.605263	75.232162	75.600849	23	15	GG		KEEP	---	---	---	---	capture	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		Silent	SNP	55958801	55958801	18713	7	G	A	A	34	34	ZNF713	A	2	2
MRPS17	51373	broad.mit.edu	36	7	55988386	55988386	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55988386T>C	uc003trb.1	+	c.289T>C	c.(289-291)TCC>CCC	p.S97P	MRPS17_uc003trd.1_Missense_Mutation_p.S2P	NM_015969	NP_057053	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	2					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome				0	Breast(14;0.214)													0.49026	520.732255	520.757185	151	157	TT		KEEP	---	---	---	---	capture	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		Missense_Mutation	SNP	55988386	55988386	10220	7	T	C	C	58	58	MRPS17	C	4	4
PSPH	5723	broad.mit.edu	36	7	56050211	56050211	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:56050211G>A	uc003trj.1	-	c.656C>T	c.(655-657)GCT>GTT	p.A219V	PSPH_uc003trg.1_Missense_Mutation_p.A190V|PSPH_uc003trh.1_Missense_Mutation_p.A190V|PSPH_uc003tri.1_Missense_Mutation_p.A190V	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	190					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)													0.219858	73.941054	84.1395	31	110	GG		KEEP	---	---	---	---	capture	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		Missense_Mutation	SNP	56050211	56050211	13171	7	G	A	A	34	34	PSPH	A	2	2
RNF216	54476	broad.mit.edu	36	7	5747615	5747615	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5747615G>T	uc003sox.1	-	c.559C>A	c.(559-561)CTT>ATT	p.L187I	RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc003soy.1_Missense_Mutation_p.L130I|RNF216_uc003soz.1_Intron	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform a	130					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)												0.213961	273.503173	323.333649	141	518	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	Missense_Mutation	SNP	5747615	5747615	13958	7	G	T	T	33	33	RNF216	T	3	3
RSPH10B	222967	broad.mit.edu	36	7	5934520	5934520	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5934520C>T	uc003sph.1	-	c.2265G>A	c.(2263-2265)GAG>GAA	p.E755E	RSPH10B_uc003spg.1_Silent_p.E602E|RSPH10B_uc010ktd.1_Silent_p.E755E	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	755											0		Ovarian(82;0.0694)												0.096215	40.578265	144.255746	61	573	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)	Silent	SNP	5934520	5934520	14183	7	C	T	T	24	24	RSPH10B	T	2	2
RSPH10B	222967	broad.mit.edu	36	7	5965184	5965184	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5965184C>T	uc003sph.1	-	c.625G>A	c.(625-627)GTA>ATA	p.V209I	RSPH10B_uc003spg.1_Missense_Mutation_p.V56I|RSPH10B_uc010ktd.1_Missense_Mutation_p.V209I	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	209	MORN 6.										0		Ovarian(82;0.0694)												0.242291	127.330648	141.067437	55	172	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)	Missense_Mutation	SNP	5965184	5965184	14183	7	C	T	T	18	18	RSPH10B	T	2	2
AIMP2	7965	broad.mit.edu	36	7	6029605	6029605	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6029605G>A	uc003spo.1	+	c.720G>A	c.(718-720)GCG>GCA	p.A240A		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	JTV1	240	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1														0.241611	81.542764	90.60667	36	113	GG		KEEP	---	---	---	---	capture			Silent	SNP	6029605	6029605	437	7	G	A	A	37	37	AIMP2	A	1	1
AIMP2	7965	broad.mit.edu	36	7	6029677	6029677	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6029677G>A	uc003spo.1	+	c.792G>A	c.(790-792)GGG>GGA	p.G264G		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	JTV1	264	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1														0.217742	60.170044	69.269491	27	97	GG		KEEP	---	---	---	---	capture			Silent	SNP	6029677	6029677	437	7	G	A	A	41	41	AIMP2	A	2	2
CYTH3	9265	broad.mit.edu	36	7	6179831	6179831	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6179831G>T	uc003spt.1	-	c.427C>A	c.(427-429)CTC>ATC	p.L143I		NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	143	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol-1,4,5-trisphosphate receptor activity				0														0.464706	212.474562	212.661736	79	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6179831	6179831	4370	7	G	T	T	33	33	CYTH3	T	3	3
CYTH3	9265	broad.mit.edu	36	7	6184043	6184043	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6184043C>T	uc003spt.1	-	c.304G>A	c.(304-306)GCC>ACC	p.A102T		NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	102	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol-1,4,5-trisphosphate receptor activity				0														0.473958	253.347362	253.456602	91	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6184043	6184043	4370	7	C	T	T	27	27	CYTH3	T	1	1
ZNF680	340252	broad.mit.edu	36	7	63619458	63619458	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:63619458T>G	uc003tta.1	-	c.1109A>C	c.(1108-1110)AAA>ACA	p.K370T	ZNF680_uc010kzr.1_Missense_Mutation_p.K297T	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	370	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)												0.495798	204.154386	204.155737	59	60	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63619458	63619458	18682	7	T	G	G	64	64	ZNF680	G	4	4
ZNF680	340252	broad.mit.edu	36	7	63620213	63620213	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:63620213C>T	uc003tta.1	-	c.354G>A	c.(352-354)GAG>GAA	p.E118E	ZNF680_uc010kzr.1_Silent_p.E45E	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)												0.372671	177.454762	179.74926	60	101	CC		KEEP	---	---	---	---	capture			Silent	SNP	63620213	63620213	18682	7	C	T	T	32	32	ZNF680	T	2	2
ZNF107	51427	broad.mit.edu	36	7	63805384	63805384	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:63805384C>T	uc003ttd.1	+	c.1267C>T	c.(1267-1269)CGA>TGA	p.R423*	ZNF107_uc003tte.1_Nonsense_Mutation_p.R423*	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	423	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)												0.171171	29.624799	41.041514	19	92	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	63805384	63805384	18306	7	C	T	T	31	31	ZNF107	T	5	1
ZNF107	51427	broad.mit.edu	36	7	63805553	63805553	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:63805553G>A	uc003ttd.1	+	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q	ZNF107_uc003tte.1_Missense_Mutation_p.R479Q	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	479	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)												0.519231	159.948767	159.982086	54	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63805553	63805553	18306	7	G	A	A	37	37	ZNF107	A	1	1
ZNF138	7697	broad.mit.edu	36	7	63929825	63929825	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:63929825G>A	uc010kzs.1	+	c.674G>A	c.(673-675)GGC>GAC	p.G225D	ZNF138_uc003ttg.1_Missense_Mutation_p.G200D|ZNF138_uc003tth.1_Missense_Mutation_p.G110D|ZNF138_uc003tti.1_Missense_Mutation_p.G110D	NM_006524	NP_006515	E9PHK7	E9PHK7_HUMAN	zinc finger protein 138	Error:Variant_position_missing_in_E9PHK7_after_alignment					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0		Lung NSC(55;0.0795)|all_lung(88;0.18)												0.22561	77.172491	88.530811	37	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63929825	63929825	18318	7	G	A	A	42	42	ZNF138	A	2	2
ZNF273	10793	broad.mit.edu	36	7	64025879	64025879	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:64025879C>A	uc003tto.1	+	c.738C>A	c.(736-738)TTC>TTA	p.F246L	ZNF273_uc003ttl.1_Missense_Mutation_p.F181L|ZNF273_uc003ttn.1_Missense_Mutation_p.F181L	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	246	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)								0.385714	213.006489	215.416855	81	129	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64025879	64025879	18400	7	C	A	A	32	32	ZNF273	A	3	3
ZNF117	51351	broad.mit.edu	36	7	64076207	64076207	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:64076207C>A	uc003ttr.2	-	c.1177G>T	c.(1177-1179)GAA>TAA	p.E393*		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	393	C2H2-type 11; degenerate.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)												0.161202	90.164268	130.173764	59	307	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	64076207	64076207	18308	7	C	A	A	32	32	ZNF117	A	5	3
ZNF117	51351	broad.mit.edu	36	7	64076467	64076467	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:64076467T>G	uc003ttr.2	-	c.917A>C	c.(916-918)AAA>ACA	p.K306T		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	306	C2H2-type 8.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)												0.448087	280.454441	280.879486	82	101	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64076467	64076467	18308	7	T	G	G	64	64	ZNF117	G	4	4
ZNF117	51351	broad.mit.edu	36	7	64076646	64076646	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:64076646C>A	uc003ttr.2	-	c.738G>T	c.(736-738)GAG>GAT	p.E246D		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	246					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)												0.243446	137.241159	153.266105	65	202	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64076646	64076646	18308	7	C	A	A	32	32	ZNF117	A	3	3
ZNF117	51351	broad.mit.edu	36	7	64076956	64076956	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:64076956C>T	uc003ttr.2	-	c.428G>A	c.(427-429)GGA>GAA	p.G143E		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	143	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)												0.379888	189.748605	192.016793	68	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64076956	64076956	18308	7	C	T	T	30	30	ZNF117	T	2	2
ZNF117	51351	broad.mit.edu	36	7	64077194	64077194	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:64077194C>A	uc003ttr.2	-	c.190G>T	c.(190-192)GGA>TGA	p.G64*		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	64					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)												0.225166	72.360502	82.849329	34	117	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	64077194	64077194	18308	7	C	A	A	24	24	ZNF117	A	5	3
RAC1	5879	broad.mit.edu	36	7	6408539	6408539	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6408539G>A	uc003spw.1	+	c.573G>A	c.(571-573)GCG>GCA	p.A191A	RAC1_uc003spv.1_Silent_p.A128A|RAC1_uc003spx.1_Silent_p.A172A	NM_018890	NP_061485	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1	172					actin filament polymerization|apoptosis|axon guidance|cell-matrix adhesion|cellular component movement|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				0		Ovarian(82;0.0776)			Pravastatin(DB00175)|Simvastatin(DB00641)				p.A191A(NCIH2066-Tumor)	151				0.475728	137.358966	137.412117	49	54	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Silent	SNP	6408539	6408539	13433	7	G	A	A	37	37	RAC1	A	1	1
DAGLB	221955	broad.mit.edu	36	7	6419147	6419147	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6419147C>T	uc003sqa.1	-	c.1471G>A	c.(1471-1473)GTC>ATC	p.V491I	DAGLB_uc003spy.1_Missense_Mutation_p.V37I|DAGLB_uc003spz.1_Missense_Mutation_p.V188I|DAGLB_uc003sqb.1_Missense_Mutation_p.V210I|DAGLB_uc003sqc.1_Missense_Mutation_p.V210I|DAGLB_uc003sqd.2_Missense_Mutation_p.V450I	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	491	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)												0.355932	55.156366	56.23605	21	38	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	Missense_Mutation	SNP	6419147	6419147	4394	7	C	T	T	19	19	DAGLB	T	1	1
KDELR2	11014	broad.mit.edu	36	7	6475769	6475769	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6475769C>T	uc003sqe.2	-	c.334G>A	c.(334-336)GAT>AAT	p.D112N	DAGLB_uc003sqd.2_Intron|KDELR2_uc003sqf.2_Missense_Mutation_p.D112N	NM_006854	NP_006845	P33947	ERD22_HUMAN	KDEL receptor 2 isoform 1	112	Lumenal (Potential).				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0776)												0.208145	94.125496	111.565793	46	175	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	Missense_Mutation	SNP	6475769	6475769	8426	7	C	T	T	31	31	KDELR2	T	1	1
CRCP	27297	broad.mit.edu	36	7	65254751	65254751	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:65254751T>G	uc003tus.1	+	c.419T>G	c.(418-420)GTG>GGG	p.V140G	CRCP_uc003tut.1_Missense_Mutation_p.V107G|CRCP_uc003tuu.1_Missense_Mutation_p.V63G|CRCP_uc003tuv.1_Non-coding_Transcript	NM_014478	NP_055293	O75575	RPC9_HUMAN	calcitonin gene-related peptide-receptor	140					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding				0														0.341176	93.756138	95.647651	29	56	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65254751	65254751	3991	7	T	G	G	59	59	CRCP	G	4	4
KCTD7	154881	broad.mit.edu	36	7	65741290	65741290	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:65741290G>A	uc003tve.1	+	c.506G>A	c.(505-507)CGG>CAG	p.R169Q	RABGEF1_uc003tvf.1_5'UTR|KCTD7_uc003tvd.2_Missense_Mutation_p.R169Q	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	potassium channel tetramerisation domain	169						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)	3														0.254902	64.205327	69.762706	26	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65741290	65741290	8420	7	G	A	A	39	39	KCTD7	A	1	1
TYW1	55253	broad.mit.edu	36	7	66120350	66120350	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:66120350G>A	uc003tvn.1	+	c.646G>A	c.(646-648)GAC>AAC	p.D216N	TYW1_uc010lai.1_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	216	Flavodoxin-like.				oxidation-reduction process|tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity				0		Lung NSC(55;0.0846)|all_lung(88;0.183)								1				0.180451	43.142769	55.897221	24	109	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66120350	66120350	17375	7	G	A	A	37	37	TYW1	A	1	1
TYW1	55253	broad.mit.edu	36	7	66201037	66201037	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:66201037G>T	uc003tvn.1	+	c.1459G>T	c.(1459-1461)GAA>TAA	p.E487*	TYW1_uc010lai.1_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	487					oxidation-reduction process|tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity				0		Lung NSC(55;0.0846)|all_lung(88;0.183)								1				0.408163	102.658915	103.386384	40	58	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	66201037	66201037	17375	7	G	T	T	33	33	TYW1	T	5	3
ZNF12	7559	broad.mit.edu	36	7	6697317	6697317	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6697317C>T	uc003sqt.1	-	c.1781G>A	c.(1780-1782)CGA>CAA	p.R594Q	ZNF12_uc003sqs.1_Missense_Mutation_p.R556Q	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	594	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding				0		Ovarian(82;0.0776)												0.445652	117.662118	117.898838	41	51	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	Missense_Mutation	SNP	6697317	6697317	18309	7	C	T	T	31	31	ZNF12	T	1	1
AUTS2	26053	broad.mit.edu	36	7	69892831	69892831	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:69892831C>T	uc003tvw.2	+	c.2693C>T	c.(2692-2694)TCG>TTG	p.S898L	AUTS2_uc003tvx.2_Missense_Mutation_p.S874L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	898										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)												0.525641	111.57637	111.623369	41	37	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	Missense_Mutation	SNP	69892831	69892831	1246	7	C	T	T	31	31	AUTS2	T	1	1
AUTS2	26053	broad.mit.edu	36	7	69892923	69892923	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:69892923G>A	uc003tvw.2	+	c.2785G>A	c.(2785-2787)GCG>ACG	p.A929T	AUTS2_uc003tvx.2_Missense_Mutation_p.A905T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	929										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)												0.24	12.4359	13.980184	6	19	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	Missense_Mutation	SNP	69892923	69892923	1246	7	G	A	A	38	38	AUTS2	A	1	1
AUTS2	26053	broad.mit.edu	36	7	69893173	69893173	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:69893173C>T	uc003tvw.2	+	c.3035C>T	c.(3034-3036)TCC>TTC	p.S1012F	AUTS2_uc003tvx.2_Missense_Mutation_p.S988F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1012										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)												0.148148	11.363014	17.783849	8	46	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	Missense_Mutation	SNP	69893173	69893173	1246	7	C	T	T	30	30	AUTS2	T	2	2
WBSCR17	64409	broad.mit.edu	36	7	70768510	70768510	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:70768510C>T	uc003tvy.1	+	c.1259C>T	c.(1258-1260)CCG>CTG	p.P420L	WBSCR17_uc003tvz.1_Missense_Mutation_p.P119L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	420	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)												0.273504	77.673969	83.067998	32	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70768510	70768510	17836	7	C	T	T	23	23	WBSCR17	T	1	1
WBSCR17	64409	broad.mit.edu	36	7	70772910	70772910	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:70772910C>T	uc003tvy.1	+	c.1284C>T	c.(1282-1284)ATC>ATT	p.I428I	WBSCR17_uc003tvz.1_Silent_p.I127I	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	428	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)												0.26455	118.955384	128.433642	50	139	CC		KEEP	---	---	---	---	capture			Silent	SNP	70772910	70772910	17836	7	C	T	T	31	31	WBSCR17	T	1	1
CALN1	83698	broad.mit.edu	36	7	71381643	71381643	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:71381643C>T	uc003twb.2	-	c.208G>A	c.(208-210)GAA>AAA	p.E70K	CALN1_uc003twa.2_Missense_Mutation_p.E28K|CALN1_uc003twc.2_Missense_Mutation_p.E28K	NM_031468	NP_113656	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 1	28	Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding				0		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)												0.463768	178.08037	178.238306	64	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71381643	71381643	2708	7	C	T	T	31	31	CALN1	T	1	1
NSUN5	55695	broad.mit.edu	36	7	72356180	72356180	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72356180G>A	uc003txv.1	-	c.917C>T	c.(916-918)CCT>CTT	p.P306L	FKBP6_uc003twz.2_Intron|NSUN5_uc003txw.1_Missense_Mutation_p.P306L|NSUN5_uc003txx.1_Missense_Mutation_p.P268L	NM_148956	NP_683759	Q96P11	NSUN5_HUMAN	NOL1/NOP2/Sun domain family, member 5 isoform 1	306							methyltransferase activity				0		Lung NSC(55;0.163)												0.4	83.379344	83.993314	28	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72356180	72356180	11086	7	G	A	A	35	35	NSUN5	A	2	2
TRIM50	135892	broad.mit.edu	36	7	72365171	72365171	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72365171G>A	uc010lbd.1	-	c.1146C>T	c.(1144-1146)CAC>CAT	p.H382H	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.H382H|TRIM50_uc003txz.1_Silent_p.H381H	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	382	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding				0														0.5	16.649272	16.649272	6	6	GG		KEEP	---	---	---	---	capture			Silent	SNP	72365171	72365171	17072	7	G	A	A	40	40	TRIM50	A	1	1
TRIM50	135892	broad.mit.edu	36	7	72370951	72370951	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72370951C>T	uc010lbd.1	-	c.532G>A	c.(532-534)GAG>AAG	p.E178K	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.E178K|TRIM50_uc003txz.1_Missense_Mutation_p.E178K	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	178						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding				0														0.118132	42.126198	94.24131	43	321	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72370951	72370951	17072	7	C	T	T	31	31	TRIM50	T	1	1
FZD9	8326	broad.mit.edu	36	7	72486429	72486429	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72486429C>A	uc003tyb.1	+	c.156C>A	c.(154-156)TAC>TAA	p.Y52*		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9	52	FZ.|Extracellular (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				Pancreas(144;909 1878 36867 38226 39554)								0.388889	13.099108	13.298229	7	11	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	72486429	72486429	6388	7	C	A	A	17	17	FZD9	A	5	3
FZD9	8326	broad.mit.edu	36	7	72487386	72487386	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72487386C>T	uc003tyb.1	+	c.1113C>T	c.(1111-1113)ATC>ATT	p.I371I		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9	371	Helical; Name=4; (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				Pancreas(144;909 1878 36867 38226 39554)								0.392857	143.659342	145.075719	55	85	CC		KEEP	---	---	---	---	capture			Silent	SNP	72487386	72487386	6388	7	C	T	T	31	31	FZD9	T	1	1
FZD9	8326	broad.mit.edu	36	7	72487781	72487781	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72487781C>T	uc003tyb.1	+	c.1508C>T	c.(1507-1509)TCG>TTG	p.S503L		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9	503	Extracellular (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				Pancreas(144;909 1878 36867 38226 39554)								0.198276	43.361685	53.194644	23	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72487781	72487781	6388	7	C	T	T	31	31	FZD9	T	1	1
BAZ1B	9031	broad.mit.edu	36	7	72511823	72511823	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72511823C>A	uc003tyc.1	-	c.3411G>T	c.(3409-3411)AAG>AAT	p.K1137N		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1137					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|transcription regulator activity|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|breast(1)	5		Lung NSC(55;0.0659)|all_lung(88;0.152)				Esophageal Squamous(112;1167 1561 21085 43672 48228)								0.474308	327.146738	327.294121	120	133	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72511823	72511823	1351	7	C	A	A	32	32	BAZ1B	A	3	3
BAZ1B	9031	broad.mit.edu	36	7	72529676	72529676	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72529676G>A	uc003tyc.1	-	c.2051C>T	c.(2050-2052)ACT>ATT	p.T684I		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	684					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|transcription regulator activity|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|breast(1)	5		Lung NSC(55;0.0659)|all_lung(88;0.152)				Esophageal Squamous(112;1167 1561 21085 43672 48228)								0.442396	282.43332	283.065959	96	121	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72529676	72529676	1351	7	G	A	A	36	36	BAZ1B	A	2	2
BAZ1B	9031	broad.mit.edu	36	7	72530009	72530009	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72530009C>T	uc003tyc.1	-	c.1718G>A	c.(1717-1719)AGA>AAA	p.R573K		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	573	Potential.|Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|transcription regulator activity|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|breast(1)	5		Lung NSC(55;0.0659)|all_lung(88;0.152)				Esophageal Squamous(112;1167 1561 21085 43672 48228)								0.214905	287.060397	330.374091	124	453	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72530009	72530009	1351	7	C	T	T	32	32	BAZ1B	T	2	2
MLXIPL	51085	broad.mit.edu	36	7	72646213	72646213	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72646213G>A	uc003tyn.1	-	c.2477C>T	c.(2476-2478)ACC>ATC	p.T826I	MLXIPL_uc003tyj.1_Missense_Mutation_p.T205I|MLXIPL_uc003tyk.1_Missense_Mutation_p.T805I|MLXIPL_uc003tyl.1_Missense_Mutation_p.T824I|MLXIPL_uc003tym.1_Missense_Mutation_p.T807I|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_3'UTR	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	826					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glycolysis|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)												0.171717	28.509149	38.599904	17	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72646213	72646213	10027	7	G	A	A	44	44	MLXIPL	A	2	2
MLXIPL	51085	broad.mit.edu	36	7	72647937	72647937	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72647937C>T	uc003tyn.1	-	c.2276G>A	c.(2275-2277)CGA>CAA	p.R759Q	MLXIPL_uc003tyj.1_Missense_Mutation_p.R138Q|MLXIPL_uc003tyk.1_Missense_Mutation_p.R738Q|MLXIPL_uc003tyl.1_Missense_Mutation_p.R757Q|MLXIPL_uc003tym.1_Missense_Mutation_p.R740Q|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.R665Q	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	759					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glycolysis|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)												0.513274	168.350259	168.367706	58	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72647937	72647937	10027	7	C	T	T	31	31	MLXIPL	T	1	1
WBSCR22	114049	broad.mit.edu	36	7	72745920	72745920	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72745920G>A	uc003tyu.1	+	c.627G>A	c.(625-627)TCG>TCA	p.S209S	WBSCR22_uc010lbi.1_Non-coding_Transcript|WBSCR22_uc003tyt.1_Silent_p.S209S|WBSCR22_uc003tyv.1_Silent_p.S171S|WBSCR22_uc003tyw.1_Silent_p.S72S	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	209						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)												0.425629	511.451492	513.562346	186	251	GG		KEEP	---	---	---	---	capture			Silent	SNP	72745920	72745920	17837	7	G	A	A	37	37	WBSCR22	A	1	1
CLDN4	1364	broad.mit.edu	36	7	72883504	72883504	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72883504C>T	uc003tzi.2	+	c.37C>T	c.(37-39)CTG>TTG	p.L13L	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	13	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)												0.24375	91.041036	100.620874	39	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	72883504	72883504	3624	7	C	T	T	28	28	CLDN4	T	2	2
WBSCR28	135886	broad.mit.edu	36	7	72917574	72917574	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72917574C>T	uc003tzk.2	+	c.388C>T	c.(388-390)CTG>TTG	p.L130L	WBSCR28_uc003tzl.2_Silent_p.L29L	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	130	Helical; (Potential).					integral to membrane				breast(1)	1		Lung NSC(55;0.159)												0.382022	97.031855	98.116974	34	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	72917574	72917574	17839	7	C	T	T	32	32	WBSCR28	T	2	2
ELN	2006	broad.mit.edu	36	7	73108679	73108679	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73108679T>C	uc003tzw.1	+	c.1293T>C	c.(1291-1293)GGT>GGC	p.G431G	ELN_uc003tzn.1_Silent_p.G431G|ELN_uc003tzz.1_Intron|ELN_uc003tzo.1_Silent_p.G417G|ELN_uc003tzp.1_Intron|ELN_uc003tzq.1_Silent_p.G314G|ELN_uc003tzr.1_Intron|ELN_uc003tzs.1_Silent_p.G431G|ELN_uc003tzt.1_Silent_p.G436G|ELN_uc003tzu.1_Silent_p.G436G|ELN_uc003tzv.1_Silent_p.G421G|ELN_uc010lbk.1_Non-coding_Transcript|ELN_uc003tzx.1_Silent_p.G421G|ELN_uc003tzy.1_Silent_p.G426G	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	431	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)					434				0.176955	70.854669	94.81833	43	200	TT		KEEP	---	---	---	---	capture			Silent	SNP	73108679	73108679	5263	7	T	C	C	59	59	ELN	C	4	4
LIMK1	3984	broad.mit.edu	36	7	73148978	73148978	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73148978C>T	uc003uaa.1	+	c.243C>T	c.(241-243)GGC>GGT	p.G81G	LIMK1_uc010lbl.1_Non-coding_Transcript|LIMK1_uc003uab.1_Silent_p.G47G|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	81					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|protein phosphorylation|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			ovary(1)|stomach(1)	2		Lung NSC(55;0.137)								172				0.401408	149.98374	151.177501	57	85	CC		KEEP	---	---	---	---	capture			Silent	SNP	73148978	73148978	9127	7	C	T	T	27	27	LIMK1	T	1	1
LIMK1	3984	broad.mit.edu	36	7	73159338	73159338	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73159338G>A	uc003uaa.1	+	c.944G>A	c.(943-945)CGC>CAC	p.R315H	LIMK1_uc010lbl.1_Non-coding_Transcript|LIMK1_uc003uab.1_Missense_Mutation_p.R281H|LIMK1_uc003uac.1_Missense_Mutation_p.R107H	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	315					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|protein phosphorylation|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			ovary(1)|stomach(1)	2		Lung NSC(55;0.137)								172				0.471698	69.571722	69.608388	25	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73159338	73159338	9127	7	G	A	A	38	38	LIMK1	A	1	1
LIMK1	3984	broad.mit.edu	36	7	73168094	73168094	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73168094C>T	uc003uaa.1	+	c.1437C>T	c.(1435-1437)TTC>TTT	p.F479F	LIMK1_uc010lbl.1_Non-coding_Transcript|LIMK1_uc003uab.1_Silent_p.F445F	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	479	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|protein phosphorylation|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			ovary(1)|stomach(1)	2		Lung NSC(55;0.137)								172				0.397959	101.809586	102.699012	39	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	73168094	73168094	9127	7	C	T	T	31	31	LIMK1	T	1	1
LAT2	7462	broad.mit.edu	36	7	73272230	73272230	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73272230C>T	uc003uag.1	+	c.183C>T	c.(181-183)GTC>GTT	p.V61V	LAT2_uc010lbn.1_Non-coding_Transcript|LAT2_uc003uah.1_Silent_p.V61V|LAT2_uc003uai.1_Silent_p.V61V|LAT2_uc010lbo.1_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	61	Cytoplasmic (Potential).				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|membrane raft|plasma membrane	SH2 domain binding				0														0.448598	131.671168	131.919069	48	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	73272230	73272230	8968	7	C	T	T	31	31	LAT2	T	1	1
RFC2	5982	broad.mit.edu	36	7	73292278	73292278	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73292278C>T	uc003uaj.1	-	c.619G>A	c.(619-621)GAG>AAG	p.E207K	RFC2_uc003uak.1_Missense_Mutation_p.E173K|RFC2_uc010lbp.1_Missense_Mutation_p.E136K|RFC2_uc003ual.1_Missense_Mutation_p.E106K	NM_181471	NP_852136	P35250	RFC2_HUMAN	replication factor C 2 isoform 1	207					cell cycle checkpoint|DNA strand elongation involved in DNA replication|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	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2														0.538462	120.647502	120.74778	42	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73292278	73292278	13716	7	C	T	T	31	31	RFC2	T	1	1
GTF2IRD1	9569	broad.mit.edu	36	7	73570429	73570429	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73570429T>C	uc010lbq.1	+	c.542T>C	c.(541-543)GTG>GCG	p.V181A	GTF2IRD1_uc003uaq.1_Missense_Mutation_p.V149A|GTF2IRD1_uc003uap.1_Missense_Mutation_p.V149A|GTF2IRD1_uc003uar.1_Missense_Mutation_p.V149A	NM_005685	NP_005676	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 2	149	GTF2I-like 1.				regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4														0.447368	51.068806	51.160362	17	21	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73570429	73570429	7148	7	T	C	C	59	59	GTF2IRD1	C	4	4
HEATR2	54919	broad.mit.edu	36	7	735825	735825	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:735825G>A	uc010krz.1	+	c.596_splice	c.e2-1	p.D199_splice	PRKAR1B_uc003siw.1_5'Flank|HEATR2_uc003siz.2_Intron	NM_017802	NP_060272			HEAT repeat containing 2								protein binding				0		Ovarian(82;0.0112)												0.5	76.669549	76.669549	25	25	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	Splice_Site_SNP	SNP	735825	735825	7311	7	G	A	A	33	33	HEATR2	A	5	2
COL28A1	340267	broad.mit.edu	36	7	7376932	7376932	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:7376932C>A	uc003src.1	-	c.3015G>T	c.(3013-3015)GGG>GGT	p.G1005G		NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	1005					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity				0		Ovarian(82;0.0789)												0.445946	270.67419	271.242192	99	123	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	Silent	SNP	7376932	7376932	3824	7	C	A	A	22	22	COL28A1	A	3	3
NCF1	653361	broad.mit.edu	36	7	73835295	73835295	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73835295C>A	uc003ubb.1	+	c.529C>A	c.(529-531)CTG>ATG	p.L177M	NCF1_uc010lbs.1_Missense_Mutation_p.L177M	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	177	SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity				0														0.176471	26.172383	36.266532	18	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73835295	73835295	10615	7	C	A	A	32	32	NCF1	A	3	3
NCF1	653361	broad.mit.edu	36	7	73835881	73835881	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73835881G>A	uc003ubb.1	+	c.652G>A	c.(652-654)GAG>AAG	p.E218K	NCF1_uc010lbs.1_3'UTR	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	218	Asp/Glu-rich (highly acidic).				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity				0														0.444444	89.185846	89.38003	32	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73835881	73835881	10615	7	G	A	A	37	37	NCF1	A	1	1
COL28A1	340267	broad.mit.edu	36	7	7438811	7438811	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:7438811C>T	uc003src.1	-	c.1906G>A	c.(1906-1908)GGT>AGT	p.G636S	COL28A1_uc003srd.2_Missense_Mutation_p.G191S|COL28A1_uc003sre.1_Missense_Mutation_p.G57S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	636					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity				0		Ovarian(82;0.0789)												0.15	70.453177	100.988968	39	221	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	Missense_Mutation	SNP	7438811	7438811	3824	7	C	T	T	24	24	COL28A1	T	2	2
POM121C	100101267	broad.mit.edu	36	7	74904826	74904826	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:74904826G>A	uc003udk.2	-	c.383C>T	c.(382-384)TCC>TTC	p.S128F	POM121C_uc010lde.1_Missense_Mutation_p.S370F	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	370	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0														0.253807	235.203991	256.888868	100	294	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74904826	74904826	12668	7	G	A	A	41	41	POM121C	A	2	2
HIP1	3092	broad.mit.edu	36	7	75024928	75024928	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:75024928G>A	uc003uds.1	-	c.1547C>T	c.(1546-1548)TCG>TTG	p.S516L		NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	516	Potential.				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			pancreas(2)|ovary(1)|central_nervous_system(1)	4										1179				0.228346	185.813723	211.623932	87	294	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75024928	75024928	7399	7	G	A	A	37	37	HIP1	A	1	1
HIP1	3092	broad.mit.edu	36	7	75041080	75041080	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:75041080C>T	uc003uds.1	-	c.667G>A	c.(667-669)GCC>ACC	p.A223T		NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	223					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			pancreas(2)|ovary(1)|central_nervous_system(1)	4										1179				0.435897	83.554274	83.828358	34	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75041080	75041080	7399	7	C	T	T	27	27	HIP1	T	1	1
COL28A1	340267	broad.mit.edu	36	7	7537980	7537980	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:7537980C>A	uc003src.1	-	c.205G>T	c.(205-207)GAT>TAT	p.D69Y		NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	69	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity				0		Ovarian(82;0.0789)												0.115108	12.188853	32.493875	16	123	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	Missense_Mutation	SNP	7537980	7537980	3824	7	C	A	A	32	32	COL28A1	A	3	3
MDH2	4191	broad.mit.edu	36	7	75524725	75524725	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:75524725G>A	uc003ueo.1	+	c.297G>A	c.(295-297)CCG>CCA	p.P99P	MDH2_uc003uep.1_5'UTR	NM_005918	NP_005909	P40926	MDHM_HUMAN	mitochondrial malate dehydrogenase precursor	99					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)									0.45614	242.535161	242.820983	78	93	GG		KEEP	---	---	---	---	capture			Silent	SNP	75524725	75524725	9799	7	G	A	A	39	39	MDH2	A	1	1
MIOS	54468	broad.mit.edu	36	7	7579346	7579346	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:7579346C>T	uc003srf.1	+	c.715C>T	c.(715-717)CGT>TGT	p.R239C	MIOS_uc010ktp.1_Missense_Mutation_p.R239C	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	239	WD 4.										0														0.164234	75.903187	105.242551	45	229	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7579346	7579346	9979	7	C	T	T	31	31	MIOS	T	1	1
MIOS	54468	broad.mit.edu	36	7	7591803	7591803	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:7591803C>T	uc003srf.1	+	c.1660C>T	c.(1660-1662)CTC>TTC	p.L554F	MIOS_uc003srg.1_Missense_Mutation_p.L89F|MIOS_uc010ktq.1_5'UTR	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	554											0														0.395105	321.501226	324.259377	113	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7591803	7591803	9979	7	C	T	T	32	32	MIOS	T	2	2
CCDC146	57639	broad.mit.edu	36	7	76740972	76740972	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:76740972C>A	uc003uga.1	+	c.1199C>A	c.(1198-1200)TCT>TAT	p.S400Y	CCDC146_uc010ldp.1_Intron	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	400	Potential.									ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)												0.437037	315.366443	316.305675	118	152	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76740972	76740972	2900	7	C	A	A	32	32	CCDC146	A	3	3
HEATR2	54919	broad.mit.edu	36	7	770089	770089	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:770089G>A	uc010krz.1	+	c.1735G>A	c.(1735-1737)GCA>ACA	p.A579T	HEATR2_uc003siz.2_Missense_Mutation_p.A447T|HEATR2_uc003sja.2_Missense_Mutation_p.A37T	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	579							protein binding				0		Ovarian(82;0.0112)												0.370492	283.384754	287.882331	113	192	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	Missense_Mutation	SNP	770089	770089	7311	7	G	A	A	38	38	HEATR2	A	1	1
PTPN12	5782	broad.mit.edu	36	7	77038382	77038382	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:77038382G>A	uc003ugh.1	+	c.151G>A	c.(151-153)GCC>ACC	p.A51T	PTPN12_uc010ldq.1_Non-coding_Transcript|PTPN12_uc010ldr.1_Non-coding_Transcript	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	51	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3														0.15942	18.776824	26.405628	11	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77038382	77038382	13236	7	G	A	A	34	34	PTPN12	A	2	2
RSBN1L	222194	broad.mit.edu	36	7	77203761	77203761	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:77203761G>T	uc010ldt.1	+	c.685G>T	c.(685-687)GTA>TTA	p.V229L	RSBN1L_uc003ugm.2_Missense_Mutation_p.V11L	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	229	Lys-rich.					nucleus				ovary(1)	1														0.180952	33.479588	43.515196	19	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77203761	77203761	14177	7	G	T	T	36	36	RSBN1L	T	3	3
PHTF2	57157	broad.mit.edu	36	7	77407493	77407493	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:77407493C>T	uc003ugs.2	+	c.1678C>T	c.(1678-1680)CGC>TGC	p.R560C	PHTF2_uc003ugp.2_Missense_Mutation_p.R522C|PHTF2_uc003ugq.2_Missense_Mutation_p.R522C|PHTF2_uc010ldv.1_Missense_Mutation_p.R522C|PHTF2_uc003ugt.2_Missense_Mutation_p.R526C|PHTF2_uc003ugu.2_Missense_Mutation_p.R522C|PHTF2_uc010ldw.1_Missense_Mutation_p.R342C	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1														0.168776	68.847036	93.478276	40	197	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77407493	77407493	12287	7	C	T	T	31	31	PHTF2	T	1	1
MAGI2	9863	broad.mit.edu	36	7	77602412	77602412	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:77602412G>A	uc003ugx.1	-	c.2893C>T	c.(2893-2895)CGC>TGC	p.R965C	MAGI2_uc003ugy.1_Missense_Mutation_p.R951C|MAGI2_uc010ldx.1_Missense_Mutation_p.R558C	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	965	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)	5		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)												0.404624	192.005903	193.383986	70	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77602412	77602412	9574	7	G	A	A	37	37	MAGI2	A	1	1
MAGI2	9863	broad.mit.edu	36	7	78474435	78474435	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:78474435G>A	uc003ugx.1	-	c.325C>T	c.(325-327)CGT>TGT	p.R109C	MAGI2_uc003ugy.1_Missense_Mutation_p.R109C	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	109	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)	5		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)												0.174107	67.687409	90.147902	39	185	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78474435	78474435	9574	7	G	A	A	37	37	MAGI2	A	1	1
CD36	948	broad.mit.edu	36	7	80123804	80123804	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:80123804G>A	uc003uhc.1	+	c.133G>A	c.(133-135)GAA>AAA	p.E45K	CD36_uc003uhd.2_Missense_Mutation_p.E45K|CD36_uc003uhe.2_Missense_Mutation_p.E45K|CD36_uc003uhf.2_Missense_Mutation_p.E45K|CD36_uc003uhg.2_Missense_Mutation_p.E45K|CD36_uc003uhh.2_Missense_Mutation_p.E45K	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	45	Extracellular (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1														0.447761	169.879982	170.198693	60	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80123804	80123804	3135	7	G	A	A	37	37	CD36	A	1	1
HGF	3082	broad.mit.edu	36	7	81196947	81196947	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:81196947A>G	uc003uhl.1	-	c.950T>C	c.(949-951)GTC>GCC	p.V317A	HGF_uc003uhm.1_Missense_Mutation_p.V312A	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	317	Kringle 3.			V -> A (in Ref. 2; CAA34387).	epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.205128	167.14464	192.291296	64	248	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81196947	81196947	7369	7	A	G	G	10	10	HGF	G	4	4
HGF	3082	broad.mit.edu	36	7	81210716	81210716	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:81210716C>T	uc003uhl.1	-	c.754G>A	c.(754-756)GAC>AAC	p.D252N	HGF_uc003uhm.1_Missense_Mutation_p.D247N|HGF_uc003uhn.1_Missense_Mutation_p.D252N|HGF_uc003uho.1_Missense_Mutation_p.D247N	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	252	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.382609	118.369396	119.759905	44	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81210716	81210716	7369	7	C	T	T	31	31	HGF	T	1	1
HGF	3082	broad.mit.edu	36	7	81224441	81224441	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:81224441C>A	uc003uhl.1	-	c.482G>T	c.(481-483)AGC>ATC	p.S161I	HGF_uc003uhm.1_Missense_Mutation_p.S161I|HGF_uc003uhn.1_Missense_Mutation_p.S161I|HGF_uc003uho.1_Missense_Mutation_p.S161I|HGF_uc003uhp.1_Missense_Mutation_p.S161I	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	161	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.403509	122.915774	123.846751	46	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81224441	81224441	7369	7	C	A	A	24	24	HGF	A	3	3
CACNA2D1	781	broad.mit.edu	36	7	81431472	81431472	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:81431472C>T	uc003uhr.1	-	c.2714G>A	c.(2713-2715)CGC>CAC	p.R905H		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	917	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.471074	319.716315	319.893356	114	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81431472	81431472	2664	7	C	T	T	27	27	CACNA2D1	T	1	1
CACNA2D1	781	broad.mit.edu	36	7	81436175	81436175	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:81436175C>A	uc003uhr.1	-	c.2359G>T	c.(2359-2361)GAA>TAA	p.E787*		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	799	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.389655	294.87937	297.981497	113	177	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	81436175	81436175	2664	7	C	A	A	32	32	CACNA2D1	A	5	3
CACNA2D1	781	broad.mit.edu	36	7	81527741	81527741	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:81527741C>T	uc003uhr.1	-	c.818G>A	c.(817-819)CGA>CAA	p.R273Q		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	273	Extracellular (Potential).|VWFA.					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.410959	163.665465	164.677667	60	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81527741	81527741	2664	7	C	T	T	31	31	CACNA2D1	T	1	1
PCLO	27445	broad.mit.edu	36	7	82417903	82417903	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:82417903G>A	uc003uhx.2	-	c.9937C>T	c.(9937-9939)CGG>TGG	p.R3313W	PCLO_uc003uhv.2_Missense_Mutation_p.R3313W|PCLO_uc010lec.1_Missense_Mutation_p.R278W	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3244	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.450199	310.91353	311.458449	113	138	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82417903	82417903	12003	7	G	A	A	37	37	PCLO	A	1	1
PCLO	27445	broad.mit.edu	36	7	82420674	82420674	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:82420674C>T	uc003uhx.2	-	c.7531G>A	c.(7531-7533)GCC>ACC	p.A2511T	PCLO_uc003uhv.2_Missense_Mutation_p.A2511T|PCLO_uc010lec.1_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2442	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.427673	177.572546	178.295738	68	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82420674	82420674	12003	7	C	T	T	27	27	PCLO	T	1	1
PCLO	27445	broad.mit.edu	36	7	82421849	82421849	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:82421849G>A	uc003uhx.2	-	c.6356C>T	c.(6355-6357)TCG>TTG	p.S2119L	PCLO_uc003uhv.2_Missense_Mutation_p.S2119L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2050					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.435897	142.5974	143.017784	51	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82421849	82421849	12003	7	G	A	A	37	37	PCLO	A	1	1
SEMA3D	223117	broad.mit.edu	36	7	84466800	84466800	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:84466800C>T	uc003uic.1	-	c.2226G>A	c.(2224-2226)CAG>CAA	p.Q742Q	SEMA3D_uc010led.1_Silent_p.Q742Q|SEMA3D_uc003uib.1_Silent_p.Q381Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D	742	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.419355	302.74751	304.157332	104	144	CC		KEEP	---	---	---	---	capture			Silent	SNP	84466800	84466800	14513	7	C	T	T	32	32	SEMA3D	T	2	2
SEMA3D	223117	broad.mit.edu	36	7	84535477	84535477	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:84535477G>A	uc003uic.1	-	c.555C>T	c.(553-555)TTC>TTT	p.F185F	SEMA3D_uc010led.1_Silent_p.F185F|SEMA3D_uc010lee.1_Silent_p.F185F	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D	185	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.185897	56.178681	70.609037	29	127	GG		KEEP	---	---	---	---	capture			Silent	SNP	84535477	84535477	14513	7	G	A	A	37	37	SEMA3D	A	1	1
GRM3	2913	broad.mit.edu	36	7	86253857	86253857	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86253857C>T	uc003uid.1	+	c.813C>T	c.(811-813)GTC>GTT	p.V271V	GRM3_uc010lef.1_Silent_p.V269V|GRM3_uc010leg.1_Silent_p.V143V|GRM3_uc010leh.1_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	271	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				ovary(3)|central_nervous_system(2)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GBM(52;969 1098 3139 52280)								0.269504	86.84547	93.571255	38	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	86253857	86253857	7077	7	C	T	T	31	31	GRM3	T	1	1
KIAA1324L	222223	broad.mit.edu	36	7	86385752	86385752	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86385752C>A	uc003uie.1	-	c.857G>T	c.(856-858)AGA>ATA	p.R286I	KIAA1324L_uc003uif.1_Missense_Mutation_p.R272I	NM_152748	NP_689961	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 2	512	Extracellular (Potential).					integral to membrane				ovary(6)	6	Esophageal squamous(14;0.0058)													0.422857	196.396912	197.310226	74	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86385752	86385752	8533	7	C	A	A	32	32	KIAA1324L	A	3	3
DMTF1	9988	broad.mit.edu	36	7	86641921	86641921	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86641921G>T	uc003uih.1	+	c.519G>T	c.(517-519)AAG>AAT	p.K173N	DMTF1_uc003uii.1_De_novo_Start_InFrame|DMTF1_uc003uij.1_De_novo_Start_InFrame|DMTF1_uc003uik.1_Non-coding_Transcript|DMTF1_uc003uil.1_Missense_Mutation_p.K173N|DMTF1_uc003uim.1_Missense_Mutation_p.K173N|DMTF1_uc003uin.1_De_novo_Start_InFrame	NM_021145	NP_066968	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	173	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)													0.343284	118.80217	121.712704	46	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86641921	86641921	4774	7	G	T	T	35	35	DMTF1	T	3	3
DMTF1	9988	broad.mit.edu	36	7	86661041	86661041	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86661041T>G	uc003uih.1	+	c.1715T>G	c.(1714-1716)ATT>AGT	p.I572S	DMTF1_uc003uii.1_Missense_Mutation_p.I306S|DMTF1_uc003uij.1_Missense_Mutation_p.I306S|DMTF1_uc003uik.1_Non-coding_Transcript|DMTF1_uc003uil.1_Missense_Mutation_p.I572S|DMTF1_uc003uin.1_Missense_Mutation_p.I306S	NM_021145	NP_066968	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	572	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)													0.431718	334.209661	335.132706	98	129	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86661041	86661041	4774	7	T	G	G	52	52	DMTF1	G	4	4
ABCB4	5244	broad.mit.edu	36	7	86873719	86873719	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86873719G>A	uc003uiv.1	-	c.3328C>T	c.(3328-3330)CTC>TTC	p.L1110F	ABCB4_uc003uiw.1_Missense_Mutation_p.L1103F|ABCB4_uc003uix.1_Missense_Mutation_p.L1056F	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1110	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.255411	135.334096	147.860329	59	172	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86873719	86873719	44	7	G	A	A	36	36	ABCB4	A	2	2
ABCB4	5244	broad.mit.edu	36	7	86875451	86875451	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86875451G>A	uc003uiv.1	-	c.3117C>T	c.(3115-3117)GTC>GTT	p.V1039V	ABCB4_uc003uiw.1_Silent_p.V1039V|ABCB4_uc003uix.1_Silent_p.V992V	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1039	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.193548	58.353313	71.94717	30	125	GG		KEEP	---	---	---	---	capture			Silent	SNP	86875451	86875451	44	7	G	A	A	37	37	ABCB4	A	1	1
ABCB4	5244	broad.mit.edu	36	7	86917246	86917246	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86917246G>A	uc003uiv.1	-	c.807C>T	c.(805-807)TTC>TTT	p.F269F	ABCB4_uc003uiw.1_Silent_p.F269F|ABCB4_uc003uix.1_Silent_p.F269F	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	269	ABC transmembrane type-1 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.52093	322.999596	323.081706	112	103	GG		KEEP	---	---	---	---	capture			Silent	SNP	86917246	86917246	44	7	G	A	A	37	37	ABCB4	A	1	1
ABCB1	5243	broad.mit.edu	36	7	86988129	86988129	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86988129C>A	uc003uiz.1	-	c.2686_splice	c.e23-1	p.I896_splice		NM_000927	NP_000918			ATP-binding cassette, subfamily B, member 1							apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.459459	185.977649	186.18973	68	80	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	86988129	86988129	41	7	C	A	A	32	32	ABCB1	A	5	3
SLC25A40	55972	broad.mit.edu	36	7	87311019	87311019	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:87311019C>T	uc003uje.1	-	c.727G>A	c.(727-729)GCA>ACA	p.A243T		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	mitochondrial carrier family protein	243	Helical; Name=5; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0	Esophageal squamous(14;0.00202)													0.135338	23.755633	40.900988	18	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87311019	87311019	15002	7	C	T	T	26	26	SLC25A40	T	2	2
DBF4	10926	broad.mit.edu	36	7	87375378	87375378	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:87375378C>T	uc003ujf.1	+	c.1989C>T	c.(1987-1989)TTC>TTT	p.F663F	DBF4_uc003ujg.1_Silent_p.F439F|DBF4_uc003ujh.1_Silent_p.F403F	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	663					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)								763				0.508621	188.321548	188.328921	59	57	CC		KEEP	---	---	---	---	capture			Silent	SNP	87375378	87375378	4419	7	C	T	T	32	32	DBF4	T	2	2
NXPH1	30010	broad.mit.edu	36	7	8757309	8757309	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:8757309G>T	uc003srv.1	+	c.201G>T	c.(199-201)GAG>GAT	p.E67D		NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	67	II.					extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)												0.159091	28.374606	43.016949	21	111	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	Missense_Mutation	SNP	8757309	8757309	11195	7	G	T	T	33	33	NXPH1	T	3	3
ZNF804B	219578	broad.mit.edu	36	7	88803224	88803224	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:88803224C>T	uc003uju.1	+	c.2992C>T	c.(2992-2994)CCA>TCA	p.P998S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	998						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)													0.457627	236.453824	236.730239	81	96	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0513)		Missense_Mutation	SNP	88803224	88803224	18769	7	C	T	T	30	30	ZNF804B	T	2	2
ZNF804B	219578	broad.mit.edu	36	7	88803692	88803692	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:88803692G>A	uc003uju.1	+	c.3460G>A	c.(3460-3462)GAA>AAA	p.E1154K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1154						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)													0.134615	31.406031	58.317911	28	180	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0513)		Missense_Mutation	SNP	88803692	88803692	18769	7	G	A	A	37	37	ZNF804B	A	1	1
GET4	51608	broad.mit.edu	36	7	893667	893667	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:893667C>A	uc003sjl.1	+	c.451C>A	c.(451-453)CTC>ATC	p.L151I	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	151					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0														0.216667	47.861973	56.779271	26	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	893667	893667	6604	7	C	A	A	24	24	GET4	A	3	3
STEAP1	26872	broad.mit.edu	36	7	89628325	89628325	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:89628325C>T	uc003ujx.1	+	c.355C>T	c.(355-357)CCA>TCA	p.P119S	STEAP1_uc010lem.1_Missense_Mutation_p.P119S	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	119	Ferric oxidoreductase.|Helical; (Potential).				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)													0.199134	93.334219	112.782278	46	185	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89628325	89628325	15797	7	C	T	T	26	26	STEAP1	T	2	2
STEAP2	261729	broad.mit.edu	36	7	89694664	89694664	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:89694664C>T	uc003ujz.1	+	c.936C>T	c.(934-936)TTC>TTT	p.F312F	STEAP2_uc003ujy.2_Silent_p.F354F|STEAP2_uc003uka.1_Silent_p.F312F|STEAP2_uc010len.1_Silent_p.F312F|STEAP2_uc003ukb.1_Silent_p.F312F|STEAP2_uc003ukc.1_Silent_p.F312F|STEAP2_uc003ukd.1_Silent_p.F312F	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	312	Ferric oxidoreductase.|Helical; (Potential).				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)													0.198113	83.131287	101.120903	42	170	CC		KEEP	---	---	---	---	capture			Silent	SNP	89694664	89694664	15798	7	C	T	T	31	31	STEAP2	T	1	1
C7orf63	79846	broad.mit.edu	36	7	89741239	89741239	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:89741239C>A	uc010lep.1	+	c.863C>A	c.(862-864)GCT>GAT	p.A288D	C7orf63_uc003ukf.1_Non-coding_Transcript|C7orf63_uc003ukg.1_Intron|C7orf63_uc003ukh.1_Missense_Mutation_p.A288D	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846	288							binding			ovary(1)	1														0.377193	120.103534	121.60975	43	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89741239	89741239	2516	7	C	A	A	28	28	C7orf63	A	3	3
C7orf63	79846	broad.mit.edu	36	7	89753614	89753614	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:89753614C>A	uc010lep.1	+	c.1621C>A	c.(1621-1623)CTA>ATA	p.L541I	C7orf63_uc003ukf.1_Non-coding_Transcript|C7orf63_uc003ukg.1_Missense_Mutation_p.L216I|C7orf63_uc003ukh.1_Missense_Mutation_p.L541I	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846	541							binding			ovary(1)	1														0.225	96.055056	109.964787	45	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89753614	89753614	2516	7	C	A	A	24	24	C7orf63	A	3	3
GTPBP10	85865	broad.mit.edu	36	7	89822432	89822432	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:89822432G>A	uc003ukm.1	+	c.416G>A	c.(415-417)CGA>CAA	p.R139Q	GTPBP10_uc003ukk.1_Intron|GTPBP10_uc003ukl.1_Non-coding_Transcript|GTPBP10_uc003uki.1_Missense_Mutation_p.R156Q|GTPBP10_uc003ukj.1_Missense_Mutation_p.R130Q|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_Intron	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	139					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0														0.245059	141.041216	156.011114	62	191	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89822432	89822432	7159	7	G	A	A	37	37	GTPBP10	A	1	1
CDK14	5218	broad.mit.edu	36	7	90422992	90422992	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:90422992G>A	uc003uky.1	+	c.871G>A	c.(871-873)GAA>AAA	p.E291K	CDK14_uc003ukz.1_Missense_Mutation_p.E273K|CDK14_uc010les.1_Missense_Mutation_p.E245K	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	291	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|protein phosphorylation|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						GBM(83;1228 1256 8311 16577 31299)				302				0.436975	436.528314	437.766751	156	201	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90422992	90422992	3259	7	G	A	A	37	37	CDK14	A	1	1
CDK14	5218	broad.mit.edu	36	7	90579833	90579833	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:90579833C>T	uc003uky.1	+	c.1195C>T	c.(1195-1197)CTC>TTC	p.L399F	CDK14_uc003ukz.1_Missense_Mutation_p.L381F|CDK14_uc010les.1_Missense_Mutation_p.L353F	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	399	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|protein phosphorylation|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						GBM(83;1228 1256 8311 16577 31299)				302				0.223242	173.691395	196.730591	73	254	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90579833	90579833	3259	7	C	T	T	28	28	CDK14	T	2	2
FZD1	8321	broad.mit.edu	36	7	90733313	90733313	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:90733313G>A	uc003ula.1	+	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1	394	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|regulation of gene-specific transcription from RNA polymerase II promoter|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)									79				0.26699	123.742141	133.84034	55	151	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0134)		Silent	SNP	90733313	90733313	6379	7	G	A	A	38	38	FZD1	A	1	1
AKAP9	10142	broad.mit.edu	36	7	91441166	91441166	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91441166G>A	uc003ulh.1	+	c.290G>A	c.(289-291)AGA>AAA	p.R97K	AKAP9_uc003ule.1_Missense_Mutation_p.R97K|AKAP9_uc003ulf.1_Missense_Mutation_p.R85K|AKAP9_uc003ulg.1_Missense_Mutation_p.R85K|AKAP9_uc003uld.2_Missense_Mutation_p.R85K	NM_147171	NP_671700	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 (Protein kinase A-anchoring protein 9) (PRKA9) (A-kinase anchor protein 450 kDa) (AKAP 450) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (AKAP 120-like protein) (Protein hyperion) (Protein yotiao) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP).	97					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)									807				0.45098	211.554914	211.875476	69	84	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Missense_Mutation	SNP	91441166	91441166	462	7	G	A	A	33	33	AKAP9	A	2	2
AKAP9	10142	broad.mit.edu	36	7	91468370	91468370	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91468370C>T	uc003ulh.1	+	c.1239C>T	c.(1237-1239)GTC>GTT	p.V413V	AKAP9_uc003ule.1_Silent_p.V413V|AKAP9_uc003ulf.1_Silent_p.V401V|AKAP9_uc003ulg.1_Silent_p.V401V|AKAP9_uc003uli.1_Silent_p.V26V	NM_147171	NP_671700	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 (Protein kinase A-anchoring protein 9) (PRKA9) (A-kinase anchor protein 450 kDa) (AKAP 450) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (AKAP 120-like protein) (Protein hyperion) (Protein yotiao) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP).	413	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)									807				0.474138	157.911213	157.979036	55	61	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Silent	SNP	91468370	91468370	462	7	C	T	T	31	31	AKAP9	T	1	1
AKAP9	10142	broad.mit.edu	36	7	91469162	91469162	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91469162G>T	uc003ulh.1	+	c.2031G>T	c.(2029-2031)CAG>CAT	p.Q677H	AKAP9_uc003ule.1_Missense_Mutation_p.Q677H|AKAP9_uc003ulf.1_Missense_Mutation_p.Q665H|AKAP9_uc003ulg.1_Missense_Mutation_p.Q665H|AKAP9_uc003uli.1_Missense_Mutation_p.Q290H	NM_147171	NP_671700	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 (Protein kinase A-anchoring protein 9) (PRKA9) (A-kinase anchor protein 450 kDa) (AKAP 450) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (AKAP 120-like protein) (Protein hyperion) (Protein yotiao) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP).	677	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)									807				0.172185	44.144796	59.492556	26	125	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Missense_Mutation	SNP	91469162	91469162	462	7	G	T	T	34	34	AKAP9	T	3	3
AKAP9	10142	broad.mit.edu	36	7	91489499	91489499	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91489499G>A	uc003ulh.1	+	c.3885G>A	c.(3883-3885)CAG>CAA	p.Q1295Q	AKAP9_uc003ule.1_Silent_p.Q1295Q|AKAP9_uc003ulf.1_Silent_p.Q1283Q|AKAP9_uc003ulg.1_Silent_p.Q1283Q|AKAP9_uc003uli.1_Silent_p.Q908Q	NM_147171	NP_671700	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 (Protein kinase A-anchoring protein 9) (PRKA9) (A-kinase anchor protein 450 kDa) (AKAP 450) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (AKAP 120-like protein) (Protein hyperion) (Protein yotiao) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP).	1295					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)									807				0.470588	224.885306	225.000834	72	81	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Silent	SNP	91489499	91489499	462	7	G	A	A	34	34	AKAP9	A	2	2
AKAP9	10142	broad.mit.edu	36	7	91498763	91498763	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91498763T>G	uc003ulh.1	+	c.4283T>G	c.(4282-4284)TTT>TGT	p.F1428C	AKAP9_uc003ule.1_Missense_Mutation_p.F1428C|AKAP9_uc003ulf.1_Missense_Mutation_p.F1416C|AKAP9_uc003ulg.1_Missense_Mutation_p.F1416C|AKAP9_uc003uli.1_Missense_Mutation_p.F1041C	NM_147171	NP_671700	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 (Protein kinase A-anchoring protein 9) (PRKA9) (A-kinase anchor protein 450 kDa) (AKAP 450) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (AKAP 120-like protein) (Protein hyperion) (Protein yotiao) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP).	1428					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)									807				0.167785	58.289321	73.86119	25	124	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Missense_Mutation	SNP	91498763	91498763	462	7	T	G	G	64	64	AKAP9	G	4	4
AKAP9	10142	broad.mit.edu	36	7	91528521	91528521	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91528521G>A	uc003ulh.1	+	c.5649G>A	c.(5647-5649)GCG>GCA	p.A1883A	AKAP9_uc003ulf.1_Silent_p.A1871A|AKAP9_uc003ulg.1_Silent_p.A1871A|AKAP9_uc003uli.1_Silent_p.A1494A	NM_147171	NP_671700	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 (Protein kinase A-anchoring protein 9) (PRKA9) (A-kinase anchor protein 450 kDa) (AKAP 450) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (AKAP 120-like protein) (Protein hyperion) (Protein yotiao) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP).	1883	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)									807				0.422078	181.244908	182.061312	65	89	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Silent	SNP	91528521	91528521	462	7	G	A	A	37	37	AKAP9	A	1	1
AKAP9	10142	broad.mit.edu	36	7	91547328	91547328	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91547328C>T	uc003ulh.1	+	c.7981C>T	c.(7981-7983)CTA>TTA	p.L2661L	AKAP9_uc003ulf.1_Silent_p.L2641L|AKAP9_uc003ulg.1_Silent_p.L2649L|AKAP9_uc003uli.1_Silent_p.L2272L|AKAP9_uc003ulj.2_Silent_p.L419L	NM_147171	NP_671700	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 (Protein kinase A-anchoring protein 9) (PRKA9) (A-kinase anchor protein 450 kDa) (AKAP 450) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (AKAP 120-like protein) (Protein hyperion) (Protein yotiao) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP).	2661	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)									807				0.202128	43.167611	50.919238	19	75	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Silent	SNP	91547328	91547328	462	7	C	T	T	28	28	AKAP9	T	2	2
CYP51A1	1595	broad.mit.edu	36	7	91584305	91584305	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91584305G>T	uc003ulm.2	-	c.1340C>A	c.(1339-1341)CCA>CAA	p.P447Q	CYP51A1_uc003uln.2_Missense_Mutation_p.P384Q	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51	441					cholesterol biosynthetic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)				Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	GBM(70;1100 1190 11592 25836 51397)								0.143885	28.697182	45.682511	20	119	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Missense_Mutation	SNP	91584305	91584305	4360	7	G	T	T	47	47	CYP51A1	T	3	3
KRIT1	889	broad.mit.edu	36	7	91690216	91690216	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91690216G>A	uc003ulq.1	-	c.1267C>T	c.(1267-1269)CGA>TGA	p.R423*	KRIT1_uc010lev.1_Nonsense_Mutation_p.R180*|KRIT1_uc003ulr.1_Nonsense_Mutation_p.R423*|KRIT1_uc003uls.1_Nonsense_Mutation_p.R423*|KRIT1_uc003ult.1_Nonsense_Mutation_p.R375*|KRIT1_uc003ulu.1_Nonsense_Mutation_p.R423*|KRIT1_uc003ulv.1_Nonsense_Mutation_p.R423*	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	423	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)													0.419355	145.568481	146.274421	52	72	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Nonsense_Mutation	SNP	91690216	91690216	8760	7	G	A	A	37	37	KRIT1	A	5	1
ANKIB1	54467	broad.mit.edu	36	7	91858590	91858590	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91858590C>T	uc003ulw.2	+	c.2227C>T	c.(2227-2229)CGC>TGC	p.R743C	ANKIB1_uc010lew.1_Missense_Mutation_p.A29V	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	743							protein binding|zinc ion binding				0	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)													0.285714	56.969552	60.428961	24	60	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Missense_Mutation	SNP	91858590	91858590	633	7	C	T	T	27	27	ANKIB1	T	1	1
PEX1	5189	broad.mit.edu	36	7	91970436	91970436	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91970436T>C	uc003uly.1	-	c.2081A>G	c.(2080-2082)GAT>GGT	p.D694G	PEX1_uc010ley.1_Missense_Mutation_p.D637G	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	694					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)												0.267241	90.162969	95.847583	31	85	TT		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		Missense_Mutation	SNP	91970436	91970436	12157	7	T	C	C	50	50	PEX1	C	4	4
PEX1	5189	broad.mit.edu	36	7	91978298	91978298	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91978298C>A	uc003uly.1	-	c.1484_splice	c.e8-1	p.G495_splice	PEX1_uc010ley.1_Splice_Site_SNP_p.G495_splice	NM_000466	NP_000457			peroxin1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)												0.198113	39.605289	48.60912	21	85	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		Splice_Site_SNP	SNP	91978298	91978298	12157	7	C	A	A	24	24	PEX1	A	5	3
C7orf64	84060	broad.mit.edu	36	7	91996867	91996867	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91996867G>T	uc003ulz.1	+	c.253G>T	c.(253-255)GAC>TAC	p.D85Y	PEX1_uc003uly.1_5'Flank|PEX1_uc010ley.1_5'Flank|C7orf64_uc003uma.2_Missense_Mutation_p.D85Y	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	85							nucleotide binding			ovary(2)	2														0.276119	84.321153	90.366804	37	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91996867	91996867	2517	7	G	T	T	33	33	C7orf64	T	3	3
C7orf64	84060	broad.mit.edu	36	7	92001789	92001789	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92001789C>T	uc003ulz.1	+	c.586C>T	c.(586-588)CCG>TCG	p.P196S	C7orf64_uc003uma.2_Missense_Mutation_p.P196S	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	196							nucleotide binding			ovary(2)	2														0.461538	176.183524	176.351306	60	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92001789	92001789	2517	7	C	T	T	30	30	C7orf64	T	2	2
SAMD9	54809	broad.mit.edu	36	7	92568762	92568762	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92568762G>A	uc003umf.1	-	c.4585C>T	c.(4585-4587)CGT>TGT	p.R1529C	SAMD9_uc003umg.1_Missense_Mutation_p.R1529C|SAMD9_uc010lfa.1_Missense_Mutation_p.R1529C	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1529						cytoplasm				ovary(3)|breast(1)|central_nervous_system(1)	5	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)													0.450292	220.059555	220.426194	77	94	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000302)		Missense_Mutation	SNP	92568762	92568762	14306	7	G	A	A	37	37	SAMD9	A	1	1
SAMD9L	219285	broad.mit.edu	36	7	92599754	92599754	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92599754G>A	uc003umh.1	-	c.3467C>T	c.(3466-3468)GCG>GTG	p.A1156V	SAMD9L_uc003umj.1_Missense_Mutation_p.A1156V|SAMD9L_uc003umi.1_Missense_Mutation_p.A1156V|SAMD9L_uc010lfb.1_Missense_Mutation_p.A1156V|SAMD9L_uc003umk.1_Missense_Mutation_p.A1156V|SAMD9L_uc010lfc.1_Missense_Mutation_p.A1156V|SAMD9L_uc010lfd.1_Missense_Mutation_p.A1156V|SAMD9L_uc010lfe.1_Missense_Mutation_p.A1156V	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1156										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)													0.42735	679.013047	681.712929	250	335	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000302)		Missense_Mutation	SNP	92599754	92599754	14307	7	G	A	A	38	38	SAMD9L	A	1	1
SAMD9L	219285	broad.mit.edu	36	7	92600054	92600054	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92600054G>T	uc003umh.1	-	c.3167C>A	c.(3166-3168)TCC>TAC	p.S1056Y	SAMD9L_uc003umj.1_Missense_Mutation_p.S1056Y|SAMD9L_uc003umi.1_Missense_Mutation_p.S1056Y|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1056Y|SAMD9L_uc003umk.1_Missense_Mutation_p.S1056Y|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1056Y|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1056Y|SAMD9L_uc010lfe.1_Missense_Mutation_p.S1056Y	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1056										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)													0.461794	373.781688	374.162658	139	162	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000302)		Missense_Mutation	SNP	92600054	92600054	14307	7	G	T	T	41	41	SAMD9L	T	3	3
CCDC132	55610	broad.mit.edu	36	7	92707133	92707133	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92707133G>T	uc003umo.1	+	c.52G>T	c.(52-54)GAA>TAA	p.E18*	CCDC132_uc003ump.1_5'UTR|CCDC132_uc003umq.1_Non-coding_Transcript|CCDC132_uc003umr.1_Non-coding_Transcript|CCDC132_uc003umn.1_Nonsense_Mutation_p.E18*	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	18											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)													0.214008	110.27077	129.69975	55	202	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000302)		Nonsense_Mutation	SNP	92707133	92707133	2887	7	G	T	T	33	33	CCDC132	T	5	3
GNGT1	2792	broad.mit.edu	36	7	93374085	93374085	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:93374085A>C	uc003unc.1	+	c.91A>C	c.(91-93)ATG>CTG	p.M31L	GNGT1_uc003umx.1_Non-coding_Transcript	NM_021955	NP_068774	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein),	31					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)													0.403846	147.039367	147.877186	42	62	AA		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000967)		Missense_Mutation	SNP	93374085	93374085	6802	7	A	C	C	4	4	GNGT1	C	4	4
COL1A2	1278	broad.mit.edu	36	7	93887483	93887483	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:93887483C>T	uc003ung.1	+	c.2082C>T	c.(2080-2082)GGC>GGT	p.G694G	COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen	694			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)				Collagenase(DB00048)									0.4375	391.873117	393.013178	147	189	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Silent	SNP	93887483	93887483	3816	7	C	T	T	27	27	COL1A2	T	1	1
COL1A2	1278	broad.mit.edu	36	7	93890365	93890365	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:93890365C>T	uc003ung.1	+	c.2564C>T	c.(2563-2565)GCT>GTT	p.A855V	COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen	855			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)				Collagenase(DB00048)									0.227778	101.190215	113.423493	41	139	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	93890365	93890365	3816	7	C	T	T	28	28	COL1A2	T	2	2
CASD1	64921	broad.mit.edu	36	7	94000980	94000980	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94000980G>T	uc003uni.2	+	c.558G>T	c.(556-558)ATG>ATT	p.M186I	CASD1_uc003unh.2_Missense_Mutation_p.M186I|CASD1_uc003unj.2_Missense_Mutation_p.M186I	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	186						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)													0.428571	201.261827	202.011601	72	96	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	94000980	94000980	2783	7	G	T	T	45	45	CASD1	T	3	3
SGCE	8910	broad.mit.edu	36	7	94086124	94086124	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94086124C>A	uc003unm.2	-	c.544G>T	c.(544-546)GAC>TAC	p.D182Y	SGCE_uc003unl.2_Missense_Mutation_p.D182Y|SGCE_uc003unn.2_Missense_Mutation_p.D182Y|SGCE_uc003unk.2_Missense_Mutation_p.D14Y	NM_001099401	NP_001092871	O43556	SGCE_HUMAN	sarcoglycan, epsilon isoform 1	182	Extracellular (Potential).				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)													0.187135	56.300299	71.982416	32	139	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	94086124	94086124	14693	7	C	A	A	32	32	SGCE	A	3	3
PPP1R9A	55607	broad.mit.edu	36	7	94578609	94578609	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94578609C>T	uc010lfj.1	+	c.1498C>T	c.(1498-1500)CTG>TTG	p.L500L	PPP1R9A_uc003unp.1_Silent_p.L500L|PPP1R9A_uc003unq.1_Silent_p.L500L	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	500	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|skin(1)	3	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)													0.245902	72.319918	79.475105	30	92	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Silent	SNP	94578609	94578609	12814	7	C	T	T	28	28	PPP1R9A	T	2	2
PON1	5444	broad.mit.edu	36	7	94769575	94769575	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94769575C>T	uc003uns.1	-	c.787G>A	c.(787-789)GAC>AAC	p.D263N		NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	263					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)				Atorvastatin(DB01076)|Cefazolin(DB01327)	GBM(119;715 1622 17358 22490 33240)								0.186916	35.428368	45.263142	20	87	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	94769575	94769575	12677	7	C	T	T	29	29	PON1	T	2	2
PON1	5444	broad.mit.edu	36	7	94782692	94782692	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94782692C>A	uc003uns.1	-	c.248G>T	c.(247-249)GGA>GTA	p.G83V		NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	83					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)				Atorvastatin(DB01076)|Cefazolin(DB01327)	GBM(119;715 1622 17358 22490 33240)								0.182243	67.49969	87.800362	39	175	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	94782692	94782692	12677	7	C	A	A	30	30	PON1	A	3	3
PON3	5446	broad.mit.edu	36	7	94831208	94831208	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94831208G>A	uc003unt.1	-	c.598C>T	c.(598-600)CGC>TGC	p.R200C		NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	200					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)													0.199074	166.35839	202.835747	86	346	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0151)		Missense_Mutation	SNP	94831208	94831208	12679	7	G	A	A	37	37	PON3	A	1	1
PON3	5446	broad.mit.edu	36	7	94834637	94834637	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94834637T>A	uc003unt.1	-	c.467A>T	c.(466-468)AAA>ATA	p.K156I		NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	156					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)													0.490385	422.036508	422.062049	153	159	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0151)		Missense_Mutation	SNP	94834637	94834637	12679	7	T	A	A	64	64	PON3	A	4	4
ASB4	51666	broad.mit.edu	36	7	94953282	94953282	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94953282C>T	uc003uny.1	+	c.63C>T	c.(61-63)TTC>TTT	p.F21F	ASB4_uc003unx.1_Silent_p.F21F	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	21					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)													0.492063	181.650759	181.657434	62	64	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0151)		Silent	SNP	94953282	94953282	1043	7	C	T	T	30	30	ASB4	T	2	2
PDK4	5166	broad.mit.edu	36	7	95054274	95054274	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:95054274G>A	uc003uoa.1	-	c.1079C>T	c.(1078-1080)GCT>GTT	p.A360V	PDK4_uc003unz.1_Missense_Mutation_p.A148V	NM_002612	NP_002603	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase 4	360	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity				0	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)									1033				0.168317	33.505856	44.035608	17	84	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0151)		Missense_Mutation	SNP	95054274	95054274	12099	7	G	A	A	34	34	PDK4	A	2	2
DLX5	1749	broad.mit.edu	36	7	96488102	96488102	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:96488102C>T	uc003uon.1	-	c.752G>A	c.(751-753)AGC>AAC	p.S251N		NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	251					cell proliferation|endochondral ossification|osteoblast differentiation|regulation of transcription, DNA-dependent	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)													0.378378	116.513612	117.957408	42	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96488102	96488102	4754	7	C	T	T	28	28	DLX5	T	2	2
OCM2	4951	broad.mit.edu	36	7	97457348	97457348	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:97457348C>T	uc003upc.1	-	c.5G>A	c.(4-6)AGC>AAC	p.S2N		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	oncomodulin-like	2							calcium ion binding				0														0.193277	48.753358	59.205968	23	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97457348	97457348	11227	7	C	T	T	28	28	OCM2	T	2	2
LMTK2	22853	broad.mit.edu	36	7	97659598	97659598	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:97659598G>A	uc003upd.1	+	c.1885G>A	c.(1885-1887)GAG>AAG	p.E629K		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	629					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(8)|pancreas(2)|large_intestine(1)	11	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)									547				0.226667	69.863269	80.165755	34	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97659598	97659598	9188	7	G	A	A	37	37	LMTK2	A	1	1
LMTK2	22853	broad.mit.edu	36	7	97660170	97660170	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:97660170C>A	uc003upd.1	+	c.2457C>A	c.(2455-2457)TCC>TCA	p.S819S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	819					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(8)|pancreas(2)|large_intestine(1)	11	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)									547				0.454874	343.285473	343.780173	126	151	CC		KEEP	---	---	---	---	capture			Silent	SNP	97660170	97660170	9188	7	C	A	A	24	24	LMTK2	A	3	3
LMTK2	22853	broad.mit.edu	36	7	97671244	97671244	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:97671244G>T	uc003upd.1	+	c.4293G>T	c.(4291-4293)AAG>AAT	p.K1431N		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1431					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(8)|pancreas(2)|large_intestine(1)	11	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)									547				0.5	482.534824	482.534824	176	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97671244	97671244	9188	7	G	T	T	33	33	LMTK2	T	3	3
LMTK2	22853	broad.mit.edu	36	7	97671307	97671307	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:97671307G>A	uc003upd.1	+	c.4356G>A	c.(4354-4356)CCG>CCA	p.P1452P		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1452	Poly-Pro.			QTSKYFSPPPP -> PSTLPAFPSHT (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(8)|pancreas(2)|large_intestine(1)	11	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)									547				0.200617	123.492702	150.50373	65	259	GG		KEEP	---	---	---	---	capture			Silent	SNP	97671307	97671307	9188	7	G	A	A	38	38	LMTK2	A	1	1
BAIAP2L1	55971	broad.mit.edu	36	7	97829613	97829613	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:97829613G>T	uc003upj.1	-	c.119C>A	c.(118-120)GCT>GAT	p.A40D		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	40	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)													0.392405	168.205618	169.810005	62	96	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Missense_Mutation	SNP	97829613	97829613	1323	7	G	T	T	34	34	BAIAP2L1	T	3	3
NPTX2	4885	broad.mit.edu	36	7	98087013	98087013	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98087013G>A	uc003upl.1	+	c.549G>A	c.(547-549)GAG>GAA	p.E183E	NPTX2_uc010lfs.1_Non-coding_Transcript	NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II	183					synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)	2	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)													0.165354	36.990432	50.491994	21	106	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Silent	SNP	98087013	98087013	11008	7	G	A	A	33	33	NPTX2	A	2	2
TRRAP	8295	broad.mit.edu	36	7	98385756	98385756	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98385756C>T	uc003upp.1	+	c.5248C>T	c.(5248-5250)CGT>TGT	p.R1750C	TRRAP_uc003upq.1_Missense_Mutation_p.R1732C|TRRAP_uc003upr.1_Missense_Mutation_p.R1449C	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1750					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	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)									1847				0.266355	132.180548	142.7356	57	157	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Missense_Mutation	SNP	98385756	98385756	17152	7	C	T	T	19	19	TRRAP	T	1	1
TRRAP	8295	broad.mit.edu	36	7	98419652	98419652	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98419652C>T	uc003upp.1	+	c.9035C>T	c.(9034-9036)TCG>TTG	p.S3012L	TRRAP_uc003upq.1_Missense_Mutation_p.A2983V|TRRAP_uc003upr.1_Missense_Mutation_p.A2700V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3012	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	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)									1847				0.209459	60.667056	72.218058	31	117	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Missense_Mutation	SNP	98419652	98419652	17152	7	C	T	T	27	27	TRRAP	T	1	1
TRRAP	8295	broad.mit.edu	36	7	98440879	98440879	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98440879G>A	uc003upp.1	+	c.10683G>A	c.(10681-10683)GAG>GAA	p.E3561E	TRRAP_uc003upq.1_Silent_p.E3532E|TRRAP_uc003upr.1_Silent_p.E3267E	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3561	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	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)									1847				0.141935	30.544197	49.71327	22	133	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Silent	SNP	98440879	98440879	17152	7	G	A	A	33	33	TRRAP	A	2	2
SMURF1	57154	broad.mit.edu	36	7	98471155	98471155	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98471155C>T	uc003upu.1	-	c.2008G>A	c.(2008-2010)GAT>AAT	p.D670N	SMURF1_uc003upv.1_Missense_Mutation_p.D644N|TRRAP_uc003ups.2_Non-coding_Transcript|SMURF1_uc003upt.1_Missense_Mutation_p.D216N	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	670	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)									444				0.205263	79.821409	95.131404	39	151	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		Missense_Mutation	SNP	98471155	98471155	15319	7	C	T	T	31	31	SMURF1	T	1	1
SMURF1	57154	broad.mit.edu	36	7	98483269	98483269	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98483269C>T	uc003upu.1	-	c.1204G>A	c.(1204-1206)GAA>AAA	p.E402K	SMURF1_uc003upv.1_Missense_Mutation_p.E376K	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	402					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)								p.E402K(JHUEM7-Tumor)	444				0.479866	406.575789	406.68207	143	155	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		Missense_Mutation	SNP	98483269	98483269	15319	7	C	T	T	31	31	SMURF1	T	1	1
SMURF1	57154	broad.mit.edu	36	7	98486981	98486981	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98486981C>A	uc003upu.1	-	c.741G>T	c.(739-741)CAG>CAT	p.Q247H	SMURF1_uc003upv.1_Missense_Mutation_p.Q247H	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	247	WW 1.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)									444				0.184466	67.811001	87.0684	38	168	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		Missense_Mutation	SNP	98486981	98486981	15319	7	C	A	A	24	24	SMURF1	A	3	3
SMURF1	57154	broad.mit.edu	36	7	98493071	98493071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98493071C>T	uc003upu.1	-	c.243G>A	c.(241-243)TGG>TGA	p.W81*	SMURF1_uc003upv.1_Nonsense_Mutation_p.W81*	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	81	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)									444				0.216783	67.444288	78.028211	31	112	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		Nonsense_Mutation	SNP	98493071	98493071	15319	7	C	T	T	30	30	SMURF1	T	5	2
ARPC1B	10095	broad.mit.edu	36	7	98823654	98823654	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98823654G>A	uc003upz.1	+	c.226G>A	c.(226-228)GCC>ACC	p.A76T	ARPC1B_uc003uqa.1_Missense_Mutation_p.A76T|ARPC1B_uc003uqb.1_Missense_Mutation_p.A76T|ARPC1B_uc003uqc.1_Missense_Mutation_p.A76T|ARPC1B_uc003uqd.1_5'Flank	NM_005720	NP_005711	O15143	ARC1B_HUMAN	actin related protein 2/3 complex subunit 1B	76	WD 2.				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)													0.214286	73.557599	87.261343	39	143	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Missense_Mutation	SNP	98823654	98823654	988	7	G	A	A	38	38	ARPC1B	A	1	1
ZNF789	285989	broad.mit.edu	36	7	98922741	98922741	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98922741G>A	uc003uqq.1	+	c.972G>A	c.(970-972)CGG>CGA	p.R324R	ZNF789_uc010lfw.1_Silent_p.R229R|ZNF789_uc003uqr.1_Silent_p.R266R	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	324	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)													0.215686	69.818354	81.214324	33	120	GG		KEEP	---	---	---	---	capture			Silent	SNP	98922741	98922741	18758	7	G	A	A	42	42	ZNF789	A	2	2
ZNF394	84124	broad.mit.edu	36	7	98930088	98930088	+	Missense_Mutation	SNP	C	T	T	rs61737534	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98930088C>T	uc003uqs.1	-	c.686G>A	c.(685-687)CGC>CAC	p.R229H	ZNF394_uc003uqt.1_Missense_Mutation_p.R22H	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	229	KRAB.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					Ovarian(24;589 697 9939 12704 40742)								0.232	120.55149	136.983411	58	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98930088	98930088	18473	7	C	T	T	27	27	ZNF394	T	1	1
FAM200A	221786	broad.mit.edu	36	7	98983946	98983946	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98983946A>G	uc003ura.1	-	c.21T>C	c.(19-21)GAT>GAC	p.D7D	FAM200A_uc003urb.1_Silent_p.D7D|FAM200A_uc010lfy.1_Silent_p.D7D	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN	hypothetical protein LOC221786	7	Extracellular (Potential).					integral to membrane	nucleic acid binding				0														0.221429	77.352502	87.353348	31	109	AA		KEEP	---	---	---	---	capture			Silent	SNP	98983946	98983946	5750	7	A	G	G	16	16	FAM200A	G	4	4
CYP3A7	1551	broad.mit.edu	36	7	99141144	99141144	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99141144T>G	uc003uru.1	-	c.1427A>C	c.(1426-1428)AAA>ACA	p.K476T	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.1_Intron|CYP3A5_uc010lgg.1_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	476					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)													0.479532	272.223502	272.286534	82	89	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99141144	99141144	4346	7	T	G	G	64	64	CYP3A7	G	4	4
CYP3A7	1551	broad.mit.edu	36	7	99150134	99150134	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99150134G>A	uc003uru.1	-	c.778C>T	c.(778-780)CGC>TGC	p.R260C	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.1_Intron|CYP3A5_uc010lgg.1_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	260					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)													0.450237	268.684132	269.140867	95	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99150134	99150134	4346	7	G	A	A	37	37	CYP3A7	A	1	1
CYP3A4	1576	broad.mit.edu	36	7	99219636	99219636	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99219636G>T	uc003urv.1	-	c.5C>A	c.(4-6)GCT>GAT	p.A2D	CYP3A4_uc003urw.1_Missense_Mutation_p.A2D	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, subfamily IIIA, polypeptide 4	2	Helical; (Potential).				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|vitamin D metabolic 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)					219				0.166667	54.433047	73.401389	30	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99219636	99219636	4343	7	G	T	T	34	34	CYP3A4	T	3	3
TRIM4	89122	broad.mit.edu	36	7	99328006	99328006	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99328006G>A	uc003usd.1	-	c.1219C>T	c.(1219-1221)CGT>TGT	p.R407C	TRIM4_uc003use.1_Missense_Mutation_p.R381C	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	tripartite motif protein TRIM4 isoform alpha	407	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			ovary(1)|kidney(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)												0.208	208.441473	247.928733	104	396	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99328006	99328006	17058	7	G	A	A	37	37	TRIM4	A	1	1
ZKSCAN1	7586	broad.mit.edu	36	7	99459308	99459308	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99459308T>C	uc003usk.1	+	c.243T>C	c.(241-243)TGT>TGC	p.C81C	ZKSCAN1_uc003usj.2_Silent_p.C80C|ZKSCAN1_uc003usl.1_Silent_p.C45C|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	81	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)													0.136095	41.719433	63.383838	23	146	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.129)		Silent	SNP	99459308	99459308	18277	7	T	C	C	58	58	ZKSCAN1	C	4	4
ZSCAN21	7589	broad.mit.edu	36	7	99492866	99492866	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99492866C>A	uc003uso.1	+	c.301C>A	c.(301-303)CTC>ATC	p.L101I	ZSCAN21_uc003usn.1_Missense_Mutation_p.L100I	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	101	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)													0.520833	209.28625	209.338821	75	69	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.129)		Missense_Mutation	SNP	99492866	99492866	18837	7	C	A	A	28	28	ZSCAN21	A	3	3
ZSCAN21	7589	broad.mit.edu	36	7	99500107	99500107	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99500107G>T	uc003uso.1	+	c.1353G>T	c.(1351-1353)AAG>AAT	p.K451N	ZSCAN21_uc003usn.1_Missense_Mutation_p.R416I|ZNF3_uc003usp.1_3'UTR	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	451	C2H2-type 7.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)													0.201681	43.117845	52.97737	24	95	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.129)		Missense_Mutation	SNP	99500107	99500107	18837	7	G	T	T	33	33	ZSCAN21	T	3	3
GAL3ST4	79690	broad.mit.edu	36	7	99595736	99595736	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99595736C>T	uc003utt.1	-	c.1212G>A	c.(1210-1212)GCG>GCA	p.A404A	C7orf43_uc010lgp.1_5'Flank|C7orf43_uc003utr.1_5'Flank|C7orf43_uc003uts.1_5'Flank|GAL3ST4_uc003utu.1_Silent_p.A404A|GAL3ST4_uc010lgq.1_Silent_p.A342A	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	404	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.41844	315.9886	317.625945	118	164	CC		KEEP	---	---	---	---	capture			Silent	SNP	99595736	99595736	6464	7	C	T	T	31	31	GAL3ST4	T	1	1
STAG3	10734	broad.mit.edu	36	7	99616127	99616127	+	Silent	SNP	G	A	A	rs2272339	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99616127G>A	uc003utx.1	+	c.12G>A	c.(10-12)CCG>CCA	p.P4P	STAG3_uc010lgs.1_5'UTR	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	4					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(3)|skin(2)|lung(1)|kidney(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)								p.P4P(HEC6-Tumor)	331				0.426195	562.694493	564.977317	205	276	GG		KEEP	---	---	---	---	capture			Silent	SNP	99616127	99616127	15762	7	G	A	A	40	40	STAG3	A	1	1
STAG3	10734	broad.mit.edu	36	7	99634916	99634916	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99634916G>T	uc003utx.1	+	c.1563G>T	c.(1561-1563)GAG>GAT	p.E521D	STAG3_uc010lgs.1_Missense_Mutation_p.E309D|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	521					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(3)|skin(2)|lung(1)|kidney(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)									331				0.263736	50.647794	55.250214	24	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99634916	99634916	15762	7	G	T	T	33	33	STAG3	T	3	3
STAG3	10734	broad.mit.edu	36	7	99635132	99635132	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99635132G>T	uc003utx.1	+	c.1606G>T	c.(1606-1608)GAA>TAA	p.E536*	STAG3_uc010lgs.1_Nonsense_Mutation_p.E324*|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	536					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(3)|skin(2)|lung(1)|kidney(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)									331				0.255814	23.599831	25.929374	11	32	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	99635132	99635132	15762	7	G	T	T	33	33	STAG3	T	5	3
STAG3	10734	broad.mit.edu	36	7	99646588	99646588	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99646588G>T	uc003utx.1	+	c.3257G>T	c.(3256-3258)AGA>ATA	p.R1086I	GATS_uc003uty.2_Intron|GATS_uc010lgt.1_Intron|GATS_uc003utz.2_Intron|GATS_uc003uua.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.R310I|GATS_uc003uuc.1_3'UTR	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1086					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(3)|skin(2)|lung(1)|kidney(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)									331				0.20442	65.163758	79.855285	37	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99646588	99646588	15762	7	G	T	T	33	33	STAG3	T	3	3
STAG3	10734	broad.mit.edu	36	7	99647437	99647437	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99647437T>C	uc003utx.1	+	c.3597_splice	c.e32+2	p.M1199_splice	GATS_uc003uty.2_Non-coding_Transcript|GATS_uc010lgt.1_Intron|GATS_uc003utz.2_Intron|GATS_uc003uua.2_Intron|STAG3_uc003uub.1_Splice_Site_SNP_p.M424_splice|GATS_uc003uuc.1_3'UTR|GATS_uc003uud.1_Non-coding_Transcript|GATS_uc010lgu.1_Non-coding_Transcript	NM_012447	NP_036579			stromal antigen 3						chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(3)|skin(2)|lung(1)|kidney(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)									331				0.412698	69.126356	69.548009	26	37	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	99647437	99647437	15762	7	T	C	C	59	59	STAG3	C	5	4
PVRIG	79037	broad.mit.edu	36	7	99655541	99655541	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99655541G>A	uc003uue.2	+	c.72G>A	c.(70-72)CGG>CGA	p.R24R	GATS_uc003uty.2_Intron|GATS_uc010lgt.1_Intron|GATS_uc003utz.2_Intron|GATS_uc003uua.2_Intron|GATS_uc003uuc.1_Intron|GATS_uc003uud.1_Intron|GATS_uc010lgu.1_Intron|PVRIG_uc003uuf.1_Silent_p.R24R	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin	24						integral to membrane					0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.578947	32.125848	32.228949	11	8	GG		KEEP	---	---	---	---	capture			Silent	SNP	99655541	99655541	13296	7	G	A	A	41	41	PVRIG	A	2	2
SPDYE3	441272	broad.mit.edu	36	7	99755263	99755263	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99755263G>A	uc003uug.1	+	c.355G>A	c.(355-357)GCC>ACC	p.A119T		NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	496											0														0.215311	94.368181	110.001525	45	164	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99755263	99755263	15542	7	G	A	A	42	42	SPDYE3	A	2	2
MEPCE	56257	broad.mit.edu	36	7	99866600	99866600	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99866600C>T	uc003uuw.1	+	c.1023C>T	c.(1021-1023)GGC>GGT	p.G341G	ZCWPW1_uc003uut.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|MEPCE_uc003uuv.1_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	341							methyltransferase activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.209302	180.769204	214.380328	90	340	CC		KEEP	---	---	---	---	capture			Silent	SNP	99866600	99866600	9866	7	C	T	T	28	28	MEPCE	T	2	2
MEPCE	56257	broad.mit.edu	36	7	99867129	99867129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99867129C>T	uc003uuw.1	+	c.1552C>T	c.(1552-1554)CGA>TGA	p.R518*	ZCWPW1_uc003uut.1_5'Flank|MEPCE_uc003uuv.1_Nonsense_Mutation_p.R49*	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	518	Bin3-type SAM.						methyltransferase activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.216981	46.589776	54.406415	23	83	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	99867129	99867129	9866	7	C	T	T	31	31	MEPCE	T	5	1
MEPCE	56257	broad.mit.edu	36	7	99868668	99868668	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99868668C>T	uc003uuw.1	+	c.1862C>T	c.(1861-1863)TCG>TTG	p.S621L	MEPCE_uc003uuv.1_Missense_Mutation_p.S152L	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	621	Bin3-type SAM.						methyltransferase activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.102564	14.343041	51.168202	24	210	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99868668	99868668	9866	7	C	T	T	31	31	MEPCE	T	1	1
AGFG2	3268	broad.mit.edu	36	7	99985983	99985983	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99985983T>A	uc003uvf.1	+	c.344T>A	c.(343-345)TTT>TAT	p.F115Y	AGFG2_uc003uvg.1_Missense_Mutation_p.F115Y|AGFG2_uc010lgy.1_De_novo_Start_InFrame	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	115	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1														0.199454	136.155438	166.934037	73	293	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99985983	99985983	384	7	T	A	A	64	64	AGFG2	A	4	4
OSR2	116039	broad.mit.edu	36	8	100033050	100033050	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:100033050G>A	uc003yir.1	+	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	OSR2_uc003yiq.1_Missense_Mutation_p.E268K			Q8N2R0	OSR2_HUMAN	Protein odd-skipped-related 2.	295	C2H2-type 5; degenerate.				bone morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|mesonephros development|metanephros development|middle ear morphogenesis|odontogenesis|osteoblast proliferation|palate development|positive regulation of epithelial cell proliferation|positive regulation of gene expression	nucleus	sequence-specific DNA binding|transcription activator activity|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)													0.465517	75.514742	75.575112	27	31	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		Missense_Mutation	SNP	100033050	100033050	11705	8	G	A	A	37	37	OSR2	A	1	1
VPS13B	157680	broad.mit.edu	36	8	100216520	100216520	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:100216520G>A	uc003yiv.1	+	c.1404G>A	c.(1402-1404)GAG>GAA	p.E468E	VPS13B_uc003yiw.1_Silent_p.E468E|VPS13B_uc003yit.1_Silent_p.E468E|VPS13B_uc003yiu.1_Silent_p.E468E|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	468					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)					Colon(161;2205 2542 7338 31318)				1116				0.462585	200.078403	200.258251	68	79	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		Silent	SNP	100216520	100216520	17757	8	G	A	A	33	33	VPS13B	A	2	2
VPS13B	157680	broad.mit.edu	36	8	100513022	100513022	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:100513022A>C	uc003yiv.1	+	c.3164A>C	c.(3163-3165)GAA>GCA	p.E1055A	VPS13B_uc003yiw.1_Missense_Mutation_p.E1055A|VPS13B_uc003yiu.1_Missense_Mutation_p.E1055A|VPS13B_uc003yix.1_Missense_Mutation_p.E525A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1055					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)					Colon(161;2205 2542 7338 31318)				1116				0.426136	255.810333	256.644902	75	101	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		Missense_Mutation	SNP	100513022	100513022	17757	8	A	C	C	9	9	VPS13B	C	4	4
VPS13B	157680	broad.mit.edu	36	8	100899168	100899168	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:100899168C>T	uc003yiv.1	+	c.8397C>T	c.(8395-8397)TGC>TGT	p.C2799C	VPS13B_uc003yiw.1_Silent_p.C2774C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2799					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)					Colon(161;2205 2542 7338 31318)				1116				0.410714	193.339432	194.510022	69	99	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		Silent	SNP	100899168	100899168	17757	8	C	T	T	26	26	VPS13B	T	2	2
VPS13B	157680	broad.mit.edu	36	8	100940832	100940832	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:100940832C>T	uc003yiv.1	+	c.11067C>T	c.(11065-11067)TTC>TTT	p.F3689F	VPS13B_uc003yiw.1_Silent_p.F3664F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3689					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)					Colon(161;2205 2542 7338 31318)				1116				0.278689	122.254968	130.313323	51	132	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		Silent	SNP	100940832	100940832	17757	8	C	T	T	31	31	VPS13B	T	1	1
MSRA	4482	broad.mit.edu	36	8	10102777	10102777	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:10102777G>T	uc003wsx.1	+	c.167G>T	c.(166-168)AGA>ATA	p.R56I	MSRA_uc003wsy.1_5'UTR|MSRA_uc003wsz.1_Missense_Mutation_p.R13I	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	56					methionine metabolic process|oxidation-reduction process|protein modification process|response to oxidative stress		peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	NSCLC(88;1378 1469 30580 49103 52286)								0.189474	31.189094	39.765842	18	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10102777	10102777	10280	8	G	T	T	33	33	MSRA	T	3	3
FBXO43	286151	broad.mit.edu	36	8	101215355	101215355	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:101215355G>A	uc003yjd.1	-	c.1978C>T	c.(1978-1980)CGA>TGA	p.R660*	FBXO43_uc003yje.1_Nonsense_Mutation_p.R626*	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	660	IBR-type.				meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)									303				0.305344	216.607745	225.459762	80	182	GG		KEEP	---	---	---	---	capture	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		Nonsense_Mutation	SNP	101215355	101215355	5989	8	G	A	A	39	39	FBXO43	A	5	1
FBXO43	286151	broad.mit.edu	36	8	101222348	101222348	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:101222348A>G	uc003yjd.1	-	c.1310T>C	c.(1309-1311)TTA>TCA	p.L437S	FBXO43_uc003yje.1_Missense_Mutation_p.L403S|FBXO43_uc010mbp.1_Missense_Mutation_p.L437S	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	437					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)									303				0.462441	684.27904	684.797051	197	229	AA		KEEP	---	---	---	---	capture	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		Missense_Mutation	SNP	101222348	101222348	5989	8	A	G	G	13	13	FBXO43	G	4	4
FBXO43	286151	broad.mit.edu	36	8	101222599	101222599	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:101222599A>G	uc003yjd.1	-	c.1059T>C	c.(1057-1059)GGT>GGC	p.G353G	FBXO43_uc003yje.1_Silent_p.G319G|FBXO43_uc010mbp.1_Silent_p.G353G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	353					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)									303				0.431034	409.217701	410.41975	125	165	AA		KEEP	---	---	---	---	capture	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		Silent	SNP	101222599	101222599	5989	8	A	G	G	2	2	FBXO43	G	4	4
SPAG1	6674	broad.mit.edu	36	8	101312630	101312630	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:101312630C>T	uc003yjh.1	+	c.1926C>T	c.(1924-1926)GCC>GCT	p.A642A	SPAG1_uc003yji.1_Silent_p.A642A	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	642	TPR 7.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)												0.17316	82.179919	105.464054	40	191	CC		KEEP	---	---	---	---	capture	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	Silent	SNP	101312630	101312630	15478	8	C	T	T	22	22	SPAG1	T	2	2
RNF19A	25897	broad.mit.edu	36	8	101341385	101341385	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:101341385C>A	uc003yjj.1	-	c.1699G>T	c.(1699-1701)GAT>TAT	p.D567Y	RNF19A_uc003yjk.1_Missense_Mutation_p.D567Y	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	ring finger protein 19	567					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)													0.311111	102.48848	106.785063	42	93	CC		KEEP	---	---	---	---	capture	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		Missense_Mutation	SNP	101341385	101341385	13948	8	C	A	A	32	32	RNF19A	A	3	3
RNF19A	25897	broad.mit.edu	36	8	101356368	101356368	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:101356368G>T	uc003yjj.1	-	c.872C>A	c.(871-873)TCT>TAT	p.S291Y	RNF19A_uc003yjk.1_Missense_Mutation_p.S291Y	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	ring finger protein 19	291					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)													0.219858	64.139683	74.340207	31	110	GG		KEEP	---	---	---	---	capture	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		Missense_Mutation	SNP	101356368	101356368	13948	8	G	T	T	33	33	RNF19A	T	3	3
RNF19A	25897	broad.mit.edu	36	8	101369377	101369377	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:101369377C>T	uc003yjj.1	-	c.202G>A	c.(202-204)GGC>AGC	p.G68S	RNF19A_uc003yjk.1_Missense_Mutation_p.G68S|RNF19A_uc003yjl.1_Missense_Mutation_p.G68S	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	ring finger protein 19	68					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)													0.404605	379.967051	382.385187	123	181	CC		KEEP	---	---	---	---	capture	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		Missense_Mutation	SNP	101369377	101369377	13948	8	C	T	T	24	24	RNF19A	T	2	2
UBR5	51366	broad.mit.edu	36	8	103366549	103366549	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:103366549C>T	uc003ykr.1	-	c.5678G>A	c.(5677-5679)CGA>CAA	p.R1893Q	UBR5_uc003yks.1_Missense_Mutation_p.R1893Q	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1893					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(5)|ovary(3)|large_intestine(3)|kidney(1)|central_nervous_system(1)	13	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)					Ovarian(131;96 1741 5634 7352 27489)			p.1892_1895LRTL>F(SKNMC-Tumor)	1024				0.817308	265.421371	275.247749	85	19	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		Missense_Mutation	SNP	103366549	103366549	17463	8	C	T	T	31	31	UBR5	T	1	1
UBR5	51366	broad.mit.edu	36	8	103427658	103427658	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:103427658C>T	uc003ykr.1	-	c.718G>A	c.(718-720)GAA>AAA	p.E240K	UBR5_uc003yks.1_Missense_Mutation_p.E240K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	240					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(5)|ovary(3)|large_intestine(3)|kidney(1)|central_nervous_system(1)	13	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)					Ovarian(131;96 1741 5634 7352 27489)				1024				0.780347	420.497109	433.015188	135	38	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		Missense_Mutation	SNP	103427658	103427658	17463	8	C	T	T	31	31	UBR5	T	1	1
ODF1	4956	broad.mit.edu	36	8	103642023	103642023	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:103642023C>T	uc003ykt.1	+	c.488C>T	c.(487-489)TCG>TTG	p.S163L		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	163					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)													0.365591	90.124456	91.602043	34	59	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		Missense_Mutation	SNP	103642023	103642023	11231	8	C	T	T	31	31	ODF1	T	1	1
ATP6V1C1	528	broad.mit.edu	36	8	104134221	104134221	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104134221G>T	uc003ykz.2	+	c.468G>T	c.(466-468)AAG>AAT	p.K156N	ATP6V1C1_uc010mbz.1_Missense_Mutation_p.K81N|ATP6V1C1_uc003yla.1_Missense_Mutation_p.K156N	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	156					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)													0.797101	161.044857	166.693131	55	14	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		Missense_Mutation	SNP	104134221	104134221	1199	8	G	T	T	33	33	ATP6V1C1	T	3	3
FZD6	8323	broad.mit.edu	36	8	104405959	104405959	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104405959C>T	uc003ylh.1	+	c.449C>T	c.(448-450)ACA>ATA	p.T150I	FZD6_uc003yli.1_Missense_Mutation_p.T150I|FZD6_uc003ylj.1_Missense_Mutation_p.T150I|FZD6_uc010mcd.1_Non-coding_Transcript	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6	150	Extracellular (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway|regulation of gene-specific transcription from RNA polymerase II promoter	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2														0.492308	87.788786	87.792294	32	33	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		Missense_Mutation	SNP	104405959	104405959	6385	8	C	T	T	17	17	FZD6	T	2	2
FZD6	8323	broad.mit.edu	36	8	104411173	104411173	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104411173G>T	uc003ylh.1	+	c.1656G>T	c.(1654-1656)AAG>AAT	p.K552N	FZD6_uc003ylj.1_Missense_Mutation_p.K552N|FZD6_uc010mcd.1_Non-coding_Transcript	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6	552	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway|regulation of gene-specific transcription from RNA polymerase II promoter	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2														0.795455	214.685578	221.806822	70	18	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		Missense_Mutation	SNP	104411173	104411173	6385	8	G	T	T	35	35	FZD6	T	3	3
CTHRC1	115908	broad.mit.edu	36	8	104457141	104457141	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104457141G>A	uc003ylk.1	+	c.151_splice	c.e2-1	p.Y51_splice		NM_138455	NP_612464			collagen triple helix repeat containing 1							collagen				ovary(1)	1														0.433775	392.043589	393.204403	131	171	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Splice_Site_SNP	SNP	104457141	104457141	4169	8	G	A	A	36	36	CTHRC1	A	5	2
CTHRC1	115908	broad.mit.edu	36	8	104459472	104459472	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104459472A>C	uc003ylk.1	+	c.414A>C	c.(412-414)AGA>AGC	p.R138S		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	138						collagen				ovary(1)	1														0.436533	446.643142	447.774101	141	182	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Missense_Mutation	SNP	104459472	104459472	4169	8	A	C	C	11	11	CTHRC1	C	4	4
SLC25A32	81034	broad.mit.edu	36	8	104496255	104496255	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104496255G>A	uc003yll.1	-	c.87C>T	c.(85-87)GGC>GGT	p.G29G	DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003yln.1_5'UTR|DCAF13_uc003ylo.1_5'UTR	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	29	Solcar 1.|Helical; Name=1; (Potential).				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1					Folic Acid(DB00158)									0.444444	48.997421	49.116601	20	25	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Silent	SNP	104496255	104496255	14993	8	G	A	A	38	38	SLC25A32	A	1	1
RIMS2	9699	broad.mit.edu	36	8	104966745	104966745	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104966745G>A	uc003yls.2	+	c.76G>A	c.(76-78)GAC>AAC	p.D26N	RIMS2_uc003ylp.2_Missense_Mutation_p.D248N|RIMS2_uc003ylw.2_Missense_Mutation_p.D56N|RIMS2_uc003ylq.2_Missense_Mutation_p.D56N|RIMS2_uc003ylr.2_Missense_Mutation_p.D56N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	279					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14									p.D26H(NCIH1703-Tumor)	728				0.458333	124.919351	125.059714	44	52	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	104966745	104966745	13845	8	G	A	A	37	37	RIMS2	A	1	1
RP1L1	94137	broad.mit.edu	36	8	10504187	10504188	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10504187_10504188GG>AA	uc003wtc.1	-	c.4830_4831CC>TT	c.(4828-4833)CTCCGG>CTTTGG	p.R1611W		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1611					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8														0.210526	24.177365	28.590709	12	45	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.0811)	Missense_Mutation	DNP	10504187	10504188	14012	8	GG	AA	AA	39	39	RP1L1	AA	1	1
RIMS2	9699	broad.mit.edu	36	8	105042520	105042520	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:105042520G>T	uc003yls.2	+	c.2087G>T	c.(2086-2088)GGA>GTA	p.G696V	RIMS2_uc003ylp.2_Missense_Mutation_p.G918V|RIMS2_uc003ylw.2_Missense_Mutation_p.G710V|RIMS2_uc003ylq.2_Missense_Mutation_p.G710V|RIMS2_uc003ylr.2_Missense_Mutation_p.G757V|RIMS2_uc003ylt.2_Missense_Mutation_p.G303V	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	980					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14									p.G696V(VMRCLCD-Tumor)	728				0.38914	223.669409	226.057996	86	135	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	105042520	105042520	13845	8	G	T	T	41	41	RIMS2	T	3	3
RP1L1	94137	broad.mit.edu	36	8	10506658	10506658	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:10506658G>T	uc003wtc.1	-	c.2360C>A	c.(2359-2361)TCT>TAT	p.S787Y		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	787					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8														0.201058	66.01863	81.758148	38	151	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.0811)	Missense_Mutation	SNP	10506658	10506658	14012	8	G	T	T	33	33	RP1L1	T	3	3
RP1L1	94137	broad.mit.edu	36	8	10507301	10507301	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:10507301C>T	uc003wtc.1	-	c.1717G>A	c.(1717-1719)GAC>AAC	p.D573N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	573					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8														0.432432	383.855141	385.174701	144	189	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.0811)	Missense_Mutation	SNP	10507301	10507301	14012	8	C	T	T	31	31	RP1L1	T	1	1
RIMS2	9699	broad.mit.edu	36	8	105079615	105079615	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:105079615G>T	uc003yls.2	+	c.2405G>T	c.(2404-2406)AGA>ATA	p.R802I	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R816I|RIMS2_uc003ylq.2_Missense_Mutation_p.R816I|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1086					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14										728				0.190813	97.759922	123.07555	54	229	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	105079615	105079615	13845	8	G	T	T	33	33	RIMS2	T	3	3
RP1L1	94137	broad.mit.edu	36	8	10517528	10517528	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:10517528C>T	uc003wtc.1	-	c.594G>A	c.(592-594)ACG>ACA	p.T198T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	198					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8														0.434238	581.415123	583.221989	208	271	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.0811)	Silent	SNP	10517528	10517528	14012	8	C	T	T	31	31	RP1L1	T	1	1
RP1L1	94137	broad.mit.edu	36	8	10517909	10517909	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:10517909G>A	uc003wtc.1	-	c.213C>T	c.(211-213)CGC>CGT	p.R71R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	71					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8														0.285714	65.45712	69.497776	28	70	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.0811)	Silent	SNP	10517909	10517909	14012	8	G	A	A	38	38	RP1L1	A	1	1
DPYS	1807	broad.mit.edu	36	8	105462693	105462693	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:105462693C>T	uc003yly.2	-	c.1469G>A	c.(1468-1470)CGT>CAT	p.R490H	DPYS_uc010mcf.1_Missense_Mutation_p.R60H	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	490			R -> T (in DHPD).		protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			ovary(1)	1														0.205479	88.07295	105.682321	45	174	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	105462693	105462693	4930	8	C	T	T	19	19	DPYS	T	1	1
LRP12	29967	broad.mit.edu	36	8	105578874	105578874	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:105578874G>T	uc003yma.1	-	c.1082C>A	c.(1081-1083)GCT>GAT	p.A361D	LRP12_uc003ymb.1_Missense_Mutation_p.A342D|LRP12_uc003ylz.1_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	361	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0														0.196809	74.781591	90.87497	37	151	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	105578874	105578874	9327	8	G	T	T	34	34	LRP12	T	3	3
LRP12	29967	broad.mit.edu	36	8	105580766	105580766	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:105580766C>A	uc003yma.1	-	c.430G>T	c.(430-432)GAT>TAT	p.D144Y	LRP12_uc003ymb.1_Missense_Mutation_p.D125Y	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	144	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0														0.426606	248.316678	249.345233	93	125	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	105580766	105580766	9327	8	C	A	A	30	30	LRP12	A	3	3
OXR1	55074	broad.mit.edu	36	8	107795340	107795340	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:107795340C>A	uc003ymh.1	+	c.1643C>A	c.(1642-1644)TCT>TAT	p.S548Y	OXR1_uc010mcg.1_Intron|OXR1_uc003ymj.1_Missense_Mutation_p.S334Y|OXR1_uc010mch.1_Missense_Mutation_p.S334Y	NM_181354	NP_851999	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 2	637					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0														0.167224	78.139747	109.555124	50	249	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		Missense_Mutation	SNP	107795340	107795340	11747	8	C	A	A	32	32	OXR1	A	3	3
ABRA	137735	broad.mit.edu	36	8	107851295	107851295	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:107851295C>A	uc003ymm.2	-	c.300G>T	c.(298-300)GAG>GAT	p.E100D		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	100					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2														0.283951	330.818579	351.208154	138	348	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		Missense_Mutation	SNP	107851295	107851295	101	8	C	A	A	24	24	ABRA	A	3	3
XKR6	286046	broad.mit.edu	36	8	10793612	10793612	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:10793612C>T	uc003wtk.1	-	c.1186G>A	c.(1186-1188)GCC>ACC	p.A396T		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	396						integral to membrane				ovary(1)	1														0.378947	91.514224	92.721043	36	59	CC		KEEP	---	---	---	---	capture		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	Missense_Mutation	SNP	10793612	10793612	18016	8	C	T	T	27	27	XKR6	T	1	1
RSPO2	340419	broad.mit.edu	36	8	109039647	109039647	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:109039647G>A	uc003yms.1	-	c.453C>T	c.(451-453)AGC>AGT	p.S151S	RSPO2_uc003ymq.1_Silent_p.S84S|RSPO2_uc003ymr.1_Silent_p.S87S	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2	151	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			ovary(2)|skin(2)|pancreas(1)|lung(1)	6														0.272727	216.62837	233.032028	96	256	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		Silent	SNP	109039647	109039647	14190	8	G	A	A	38	38	RSPO2	A	1	1
TMEM74	157753	broad.mit.edu	36	8	109865604	109865604	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:109865604C>T	uc003ymy.1	-	c.900G>A	c.(898-900)GCG>GCA	p.A300A	TMEM74_uc003ymx.2_Intron|TMEM74_uc010mck.1_Silent_p.A300A	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	300					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)	3										48				0.215859	96.630413	113.566598	49	178	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		Silent	SNP	109865604	109865604	16741	8	C	T	T	27	27	TMEM74	T	1	1
TMEM74	157753	broad.mit.edu	36	8	109866123	109866123	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:109866123C>T	uc003ymy.1	-	c.381G>A	c.(379-381)TCG>TCA	p.S127S	TMEM74_uc003ymx.2_Intron|TMEM74_uc010mck.1_Silent_p.S127S	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	127					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)	3										48				0.330247	266.445485	274.70529	107	217	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		Silent	SNP	109866123	109866123	16741	8	C	T	T	27	27	TMEM74	T	1	1
TMEM74	157753	broad.mit.edu	36	8	109866273	109866273	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:109866273C>T	uc003ymy.1	-	c.231G>A	c.(229-231)CAG>CAA	p.Q77Q	TMEM74_uc003ymx.2_Intron|TMEM74_uc010mck.1_Silent_p.Q77Q	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	77					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)	3										48				0.141148	91.222252	143.179525	59	359	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		Silent	SNP	109866273	109866273	16741	8	C	T	T	28	28	TMEM74	T	2	2
TRHR	7201	broad.mit.edu	36	8	110169255	110169255	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110169255C>T	uc003ymz.2	+	c.338C>T	c.(337-339)TCT>TTT	p.S113F		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	113	Helical; Name=3; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity				0														0.168421	119.345301	158.934536	64	316	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		Missense_Mutation	SNP	110169255	110169255	17024	8	C	T	T	32	32	TRHR	T	2	2
TRHR	7201	broad.mit.edu	36	8	110169323	110169323	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110169323C>A	uc003ymz.2	+	c.406C>A	c.(406-408)CTC>ATC	p.L136I		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	136	Cytoplasmic (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity				0														0.156069	78.096522	117.213612	54	292	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		Missense_Mutation	SNP	110169323	110169323	17024	8	C	A	A	32	32	TRHR	A	3	3
NUDCD1	84955	broad.mit.edu	36	8	110377907	110377907	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110377907C>T	uc003ynb.2	-	c.341G>A	c.(340-342)CGT>CAT	p.R114H	NUDCD1_uc003yna.1_Missense_Mutation_p.R85H|NUDCD1_uc010mcl.1_Missense_Mutation_p.R27H|NUDCD1_uc010mcm.1_Missense_Mutation_p.R27H	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	114										ovary(1)|breast(1)	2	all_neural(195;0.219)													0.127604	55.012205	106.93944	49	335	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		Missense_Mutation	SNP	110377907	110377907	11127	8	C	T	T	19	19	NUDCD1	T	1	1
PKHD1L1	93035	broad.mit.edu	36	8	110501981	110501981	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110501981T>G	uc003yne.1	+	c.2583T>G	c.(2581-2583)TTT>TTG	p.F861L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	861	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														0.158371	77.898374	102.469782	35	186	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Missense_Mutation	SNP	110501981	110501981	12397	8	T	G	G	62	62	PKHD1L1	G	4	4
PKHD1L1	93035	broad.mit.edu	36	8	110508512	110508512	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110508512C>T	uc003yne.1	+	c.2951C>T	c.(2950-2952)GCG>GTG	p.A984V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	984	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														0.113636	19.833749	52.225549	25	195	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Missense_Mutation	SNP	110508512	110508512	12397	8	C	T	T	27	27	PKHD1L1	T	1	1
PKHD1L1	93035	broad.mit.edu	36	8	110524431	110524431	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110524431C>T	uc003yne.1	+	c.4474C>T	c.(4474-4476)CTC>TTC	p.L1492F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	1492	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														0.134259	118.261957	202.360371	87	561	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Missense_Mutation	SNP	110524431	110524431	12397	8	C	T	T	32	32	PKHD1L1	T	2	2
PKHD1L1	93035	broad.mit.edu	36	8	110526476	110526476	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110526476G>T	uc003yne.1	+	c.5202G>T	c.(5200-5202)CAG>CAT	p.Q1734H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	1734	IPT/TIG 9.|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														0.137417	126.190043	203.053221	83	521	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Missense_Mutation	SNP	110526476	110526476	12397	8	G	T	T	36	36	PKHD1L1	T	3	3
PKHD1L1	93035	broad.mit.edu	36	8	110541047	110541047	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110541047C>A	uc003yne.1	+	c.7052C>A	c.(7051-7053)GCT>GAT	p.A2351D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	2351	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														0.130435	7.816202	13.929875	6	40	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Missense_Mutation	SNP	110541047	110541047	12397	8	C	A	A	28	28	PKHD1L1	A	3	3
PKHD1L1	93035	broad.mit.edu	36	8	110545938	110545938	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110545938G>A	uc003yne.1	+	c.7701G>A	c.(7699-7701)CCG>CCA	p.P2567P		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	2567	Extracellular (Potential).|PbH1 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14														0.305882	131.033029	136.748407	52	118	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Silent	SNP	110545938	110545938	12397	8	G	A	A	37	37	PKHD1L1	A	1	1
PKHD1L1	93035	broad.mit.edu	36	8	110548136	110548136	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110548136C>A	uc003yne.1	+	c.8567C>A	c.(8566-8568)TCT>TAT	p.S2856Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	2856	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														0.25	47.1279	51.905655	21	63	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Missense_Mutation	SNP	110548136	110548136	12397	8	C	A	A	32	32	PKHD1L1	A	3	3
PKHD1L1	93035	broad.mit.edu	36	8	110562891	110562891	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110562891G>T	uc003yne.1	+	c.9381G>T	c.(9379-9381)AAG>AAT	p.K3127N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	3127	Extracellular (Potential).|G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14														0.146341	6.605572	11.572664	6	35	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Missense_Mutation	SNP	110562891	110562891	12397	8	G	T	T	33	33	PKHD1L1	T	3	3
PKHD1L1	93035	broad.mit.edu	36	8	110573332	110573333	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110573332_110573333CG>TA	uc003yne.1	+	c.10169_10170CG>TA	c.(10168-10170)TCG>TTA	p.S3390L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	3390	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														0.373626	91.921473	93.19975	34	57	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Missense_Mutation	DNP	110573332	110573333	12397	8	CG	TA	TA	31	31	PKHD1L1	TA	1	1
EBAG9	9166	broad.mit.edu	36	8	110645881	110645881	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110645881G>A	uc003ynf.1	+	c.559G>A	c.(559-561)GAA>AAA	p.E187K	EBAG9_uc003yng.1_Missense_Mutation_p.E187K	NM_198120	NP_936056	O00559	RCAS1_HUMAN	estrogen receptor binding site associated	187	Cytoplasmic (Potential).|Potential.				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0														0.285714	147.909892	156.566107	60	150	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		Missense_Mutation	SNP	110645881	110645881	5065	8	G	A	A	37	37	EBAG9	A	1	1
XKR6	286046	broad.mit.edu	36	8	11095512	11095512	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:11095512C>A	uc003wtk.1	-	c.747G>T	c.(745-747)CAG>CAT	p.Q249H		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	249						integral to membrane				ovary(1)	1														0.255814	24.001131	26.32959	11	32	CC		KEEP	---	---	---	---	capture		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	Missense_Mutation	SNP	11095512	11095512	18016	8	C	A	A	32	32	XKR6	A	3	3
KCNV1	27012	broad.mit.edu	36	8	111049654	111049654	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:111049654G>A	uc003ynr.2	-	c.1342C>T	c.(1342-1344)CGT>TGT	p.R448C	KCNV1_uc010mcw.1_Missense_Mutation_p.R448C	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	448	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)													0.219101	76.889946	89.791617	39	139	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		Missense_Mutation	SNP	111049654	111049654	8399	8	G	A	A	38	38	KCNV1	A	1	1
KCNV1	27012	broad.mit.edu	36	8	111049752	111049752	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:111049752G>A	uc003ynr.2	-	c.1244C>T	c.(1243-1245)TCG>TTG	p.S415L	KCNV1_uc010mcw.1_Missense_Mutation_p.S415L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	415	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)													0.21256	92.18601	107.995618	44	163	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		Missense_Mutation	SNP	111049752	111049752	8399	8	G	A	A	37	37	KCNV1	A	1	1
KCNV1	27012	broad.mit.edu	36	8	111053997	111053997	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:111053997G>A	uc003ynr.2	-	c.657C>T	c.(655-657)TTC>TTT	p.F219F	KCNV1_uc010mcw.1_Silent_p.F219F	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	219	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)													0.534722	224.47052	224.620707	77	67	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		Silent	SNP	111053997	111053997	8399	8	G	A	A	37	37	KCNV1	A	1	1
MTMR9	66036	broad.mit.edu	36	8	11211615	11211615	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:11211615C>A	uc003wtm.1	+	c.1137C>A	c.(1135-1137)CGC>CGA	p.R379R	MTMR9_uc010lrx.1_Silent_p.R272R	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin-related protein 9	379	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding				0														0.257143	42.414421	46.159233	18	52	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	Silent	SNP	11211615	11211615	10343	8	C	A	A	28	28	MTMR9	A	3	3
CSMD3	114788	broad.mit.edu	36	8	113315847	113315847	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:113315847G>A	uc003ynu.1	-	c.10663C>T	c.(10663-10665)CGC>TGC	p.R3555C	CSMD3_uc003ynt.1_Missense_Mutation_p.R3515C|CSMD3_uc003ynv.1_Missense_Mutation_p.R3349C|CSMD3_uc003yns.1_Missense_Mutation_p.R2757C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3555	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.202857	140.916304	169.630631	71	279	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113315847	113315847	4087	8	G	A	A	40	40	CSMD3	A	1	1
CSMD3	114788	broad.mit.edu	36	8	113400349	113400349	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:113400349A>C	uc003ynu.1	-	c.7253T>G	c.(7252-7254)ATT>AGT	p.I2418S	CSMD3_uc003ynt.1_Missense_Mutation_p.I2378S|CSMD3_uc003ynv.1_Missense_Mutation_p.I2277S|CSMD3_uc003yns.1_Missense_Mutation_p.I1620S|CSMD3_uc003ynw.1_Missense_Mutation_p.I129S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2418	Extracellular (Potential).|Sushi 13.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.155039	44.126207	58.784159	20	109	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113400349	113400349	4087	8	A	C	C	4	4	CSMD3	C	4	4
CSMD3	114788	broad.mit.edu	36	8	113718309	113718309	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:113718309A>G	uc003ynu.1	-	c.3628T>C	c.(3628-3630)TCG>CCG	p.S1210P	CSMD3_uc003ynt.1_Missense_Mutation_p.S1170P|CSMD3_uc003ynv.1_Missense_Mutation_p.S1069P|CSMD3_uc003yns.1_Missense_Mutation_p.S482P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1210	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.178161	75.728538	92.68656	31	143	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113718309	113718309	4087	8	A	G	G	9	9	CSMD3	G	4	4
CSMD3	114788	broad.mit.edu	36	8	114100492	114100492	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:114100492C>A	uc003ynu.1	-	c.1010G>T	c.(1009-1011)GGA>GTA	p.G337V	CSMD3_uc003ynt.1_Missense_Mutation_p.G297V|CSMD3_uc003ynv.1_Missense_Mutation_p.G300V|CSMD3_uc010mcx.1_Missense_Mutation_p.G337V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	337	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.178322	85.325553	113.219444	51	235	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114100492	114100492	4087	8	C	A	A	30	30	CSMD3	A	3	3
CSMD3	114788	broad.mit.edu	36	8	114396072	114396072	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:114396072C>T	uc003ynu.1	-	c.305G>A	c.(304-306)AGA>AAA	p.R102K	CSMD3_uc003ynt.1_Missense_Mutation_p.R62K|CSMD3_uc003ynv.1_Missense_Mutation_p.R65K|CSMD3_uc010mcx.1_Missense_Mutation_p.R102K|CSMD3_uc003ynx.2_Missense_Mutation_p.R102K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	102	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.241935	179.461986	198.297962	75	235	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114396072	114396072	4087	8	C	T	T	32	32	CSMD3	T	2	2
BLK	640	broad.mit.edu	36	8	11450294	11450294	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:11450294C>T	uc003wty.1	+	c.664C>T	c.(664-666)CGC>TGC	p.R222C	BLK_uc003wtz.1_Missense_Mutation_p.R151C	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	222					intracellular protein kinase cascade|positive regulation of insulin secretion|protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|ovary(1)	2										676				0.214286	73.272542	86.971022	39	143	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	Missense_Mutation	SNP	11450294	11450294	1469	8	C	T	T	27	27	BLK	T	1	1
BLK	640	broad.mit.edu	36	8	11456338	11456338	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:11456338G>A	uc003wty.1	+	c.1148G>A	c.(1147-1149)CGA>CAA	p.R383Q	BLK_uc003wtz.1_Missense_Mutation_p.R312Q|BLK_uc003wua.1_Missense_Mutation_p.R219Q	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	383	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion|protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|ovary(1)	2										676				0.47541	80.132623	80.158742	29	32	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	Missense_Mutation	SNP	11456338	11456338	1469	8	G	A	A	37	37	BLK	A	1	1
TRPS1	7227	broad.mit.edu	36	8	116499778	116499778	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:116499778C>T	uc003yny.1	-	c.2779G>A	c.(2779-2781)GGA>AGA	p.G927R	TRPS1_uc010mcy.1_Missense_Mutation_p.G914R|TRPS1_uc003ynz.1_Missense_Mutation_p.G914R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	914	GATA-type.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)									312				0.187661	150.984635	186.499391	73	316	CC		KEEP	---	---	---	---	capture	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		Missense_Mutation	SNP	116499778	116499778	17144	8	C	T	T	23	23	TRPS1	T	1	1
GATA4	2626	broad.mit.edu	36	8	11653266	11653266	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:11653266C>T	uc003wuc.2	+	c.1202C>T	c.(1201-1203)TCG>TTG	p.S401L	GATA4_uc003wub.1_Missense_Mutation_p.S195L	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	401					atrial septum primum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of gene-specific transcription|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|promoter binding|specific RNA polymerase II transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)													0.182143	90.853421	117.440056	51	229	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	Missense_Mutation	SNP	11653266	11653266	6520	8	C	T	T	31	31	GATA4	T	1	1
TRPS1	7227	broad.mit.edu	36	8	116685936	116685936	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:116685936C>T	uc003yny.1	-	c.1435G>A	c.(1435-1437)GGC>AGC	p.G479S	TRPS1_uc010mcy.1_Missense_Mutation_p.G466S|TRPS1_uc003ynz.1_Missense_Mutation_p.G466S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	466					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)									312				0.429687	155.103435	155.654935	55	73	CC		KEEP	---	---	---	---	capture	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		Missense_Mutation	SNP	116685936	116685936	17144	8	C	T	T	23	23	TRPS1	T	1	1
TRPS1	7227	broad.mit.edu	36	8	116700730	116700730	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:116700730C>T	uc003yny.1	-	c.770G>A	c.(769-771)CGA>CAA	p.R257Q	TRPS1_uc010mcy.1_Missense_Mutation_p.R244Q|TRPS1_uc003ynz.1_Missense_Mutation_p.R244Q	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	244	C2H2-type 1; atypical.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)									312				0.200913	86.914331	105.103279	44	175	CC		KEEP	---	---	---	---	capture	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		Missense_Mutation	SNP	116700730	116700730	17144	8	C	T	T	31	31	TRPS1	T	1	1
TRPS1	7227	broad.mit.edu	36	8	116701362	116701362	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:116701362C>A	uc003yny.1	-	c.138G>T	c.(136-138)AAG>AAT	p.K46N	TRPS1_uc010mcy.1_Missense_Mutation_p.K33N|TRPS1_uc003ynz.1_Missense_Mutation_p.K33N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	33					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)									312				0.449102	201.383947	201.763283	75	92	CC		KEEP	---	---	---	---	capture	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		Missense_Mutation	SNP	116701362	116701362	17144	8	C	A	A	32	32	TRPS1	A	3	3
EIF3H	8667	broad.mit.edu	36	8	117837191	117837191	+	Silent	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:117837191G>C	uc003yob.1	-	c.69C>G	c.(67-69)GGC>GGG	p.G23G	EIF3H_uc003yoa.1_Silent_p.G9G	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	9					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)									241				0.130435	14.225576	23.393454	9	60	GG		KEEP	---	---	---	---	capture			Silent	SNP	117837191	117837191	5209	8	G	C	C	34	34	EIF3H	C	3	3
UTP23	84294	broad.mit.edu	36	8	117853002	117853002	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:117853002G>T	uc003yoc.1	+	c.490G>T	c.(490-492)GGT>TGT	p.G164C		NM_032334	NP_115710	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component,	164					rRNA processing	nucleolus					0														0.234146	103.881213	117.152266	48	157	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117853002	117853002	17665	8	G	T	T	35	35	UTP23	T	3	3
RAD21	5885	broad.mit.edu	36	8	117938125	117938125	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:117938125C>T	uc003yod.1	-	c.755G>A	c.(754-756)GGG>GAG	p.G252E		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	252					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of gene-specific 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)									357				0.233766	122.119092	137.11585	54	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117938125	117938125	13440	8	C	T	T	22	22	RAD21	T	2	2
EXT1	2131	broad.mit.edu	36	8	119191726	119191726	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:119191726C>T	uc003yok.1	-	c.741G>A	c.(739-741)GAG>GAA	p.E247E		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	247	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(1)	3	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)								p.E247E(HLFA-Tumor)	297				0.208696	103.961916	122.046584	48	182	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.012)		Silent	SNP	119191726	119191726	5517	8	C	T	T	32	32	EXT1	T	2	2
COLEC10	10584	broad.mit.edu	36	8	120187414	120187414	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:120187414G>T	uc003yoo.1	+	c.637G>T	c.(637-639)GAC>TAC	p.D213Y		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10	213	C-type lectin.					collagen|cytoplasm	mannose binding			ovary(2)	2	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)													0.244755	71.838879	80.341517	35	108	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00113)		Missense_Mutation	SNP	120187414	120187414	3848	8	G	T	T	45	45	COLEC10	T	3	3
MAL2	114569	broad.mit.edu	36	8	120303098	120303098	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:120303098G>A	uc003yop.1	+	c.223G>A	c.(223-225)GCG>ACG	p.A75T		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	MAL2 proteolipid protein	75	MARVEL.|Helical; (Potential).					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding				0	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)													0.170175	166.149826	224.805702	97	473	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.000967)		Missense_Mutation	SNP	120303098	120303098	9583	8	G	A	A	34	34	MAL2	A	2	2
USP17L2	377630	broad.mit.edu	36	8	12032671	12032671	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:12032671G>A	uc003wvc.1	-	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F		NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	336					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0														0.179389	91.751774	117.104242	47	215	GG		KEEP	---	---	---	---	capture			Silent	SNP	12032671	12032671	17611	8	G	A	A	33	33	USP17L2	A	2	2
ENPP2	5168	broad.mit.edu	36	8	120667645	120667645	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:120667645A>G	uc003yos.1	-	c.1485T>C	c.(1483-1485)GAT>GAC	p.D495D	ENPP2_uc003yot.1_Silent_p.D443D|ENPP2_uc010mdd.1_Silent_p.D443D|ENPP2_uc003yor.1_Silent_p.D82D	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	autotaxin isoform 1 preproprotein	443					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)	6	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)					Melanoma(20;305 879 2501 4818 31020)								0.152672	82.353896	112.574996	40	222	AA		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00185)		Silent	SNP	120667645	120667645	5323	8	A	G	G	16	16	ENPP2	G	4	4
ENPP2	5168	broad.mit.edu	36	8	120677286	120677286	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:120677286C>T	uc003yos.1	-	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A	ENPP2_uc003yot.1_Intron|ENPP2_uc010mdd.1_Intron|ENPP2_uc003yor.1_5'Flank	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	autotaxin isoform 1 preproprotein	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)	6	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)					Melanoma(20;305 879 2501 4818 31020)								0.155941	114.773332	160.430547	63	341	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00185)		Silent	SNP	120677286	120677286	5323	8	C	T	T	23	23	ENPP2	T	1	1
ENPP2	5168	broad.mit.edu	36	8	120677372	120677372	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:120677372C>T	uc003yos.1	-	c.1024G>A	c.(1024-1026)GTT>ATT	p.V342I	ENPP2_uc003yot.1_Intron|ENPP2_uc010mdd.1_Intron|ENPP2_uc003yor.1_5'Flank	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	autotaxin isoform 1 preproprotein	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)	6	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)					Melanoma(20;305 879 2501 4818 31020)								0.358885	286.138869	291.173743	103	184	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00185)		Missense_Mutation	SNP	120677372	120677372	5323	8	C	T	T	20	20	ENPP2	T	2	2
DEPDC6	64798	broad.mit.edu	36	8	121084422	121084422	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:121084422C>T	uc003yow.2	+	c.816C>T	c.(814-816)ATC>ATT	p.I272I		NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	272	Ser-rich.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)													0.2	7.98753	9.662871	4	16	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00185)		Silent	SNP	121084422	121084422	4622	8	C	T	T	31	31	DEPDC6	T	1	1
COL14A1	7373	broad.mit.edu	36	8	121243914	121243914	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:121243914G>T	uc003yox.1	+	c.274G>T	c.(274-276)GAC>TAC	p.D92Y		NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	92	Fibronectin type-III 1.				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)									1131				0.142202	37.359223	64.297095	31	187	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		Missense_Mutation	SNP	121243914	121243914	3809	8	G	T	T	33	33	COL14A1	T	3	3
COL14A1	7373	broad.mit.edu	36	8	121279258	121279258	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:121279258G>T	uc003yox.1	+	c.620G>T	c.(619-621)AGA>ATA	p.R207I	COL14A1_uc010mde.1_Intron|COL14A1_uc003yoy.2_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	207	VWFA 1.				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)									1131				0.149378	48.922878	77.366633	36	205	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		Missense_Mutation	SNP	121279258	121279258	3809	8	G	T	T	33	33	COL14A1	T	3	3
COL14A1	7373	broad.mit.edu	36	8	121285211	121285211	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:121285211C>T	uc003yox.1	+	c.960C>T	c.(958-960)TTC>TTT	p.F320F	COL14A1_uc010mde.1_5'UTR|COL14A1_uc003yoy.2_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	320	VWFA 1.				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)									1131				0.137097	20.8956	36.701166	17	107	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		Silent	SNP	121285211	121285211	3809	8	C	T	T	31	31	COL14A1	T	1	1
COL14A1	7373	broad.mit.edu	36	8	121365167	121365167	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:121365167T>G	uc003yox.1	+	c.3936T>G	c.(3934-3936)AAT>AAG	p.N1312K	COL14A1_uc003yoz.2_Missense_Mutation_p.N277K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1312	Nonhelical region (NC4).|TSP N-terminal.				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)									1131				0.182131	121.254905	148.829096	53	238	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		Missense_Mutation	SNP	121365167	121365167	3809	8	T	G	G	52	52	COL14A1	G	4	4
COL14A1	7373	broad.mit.edu	36	8	121422775	121422775	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:121422775G>A	uc003yox.1	+	c.4816G>A	c.(4816-4818)GAG>AAG	p.E1606K	COL14A1_uc003yoz.2_Missense_Mutation_p.E571K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1606	Triple-helical region 1 (COL2).				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)								p.E1606*(SNU81-Tumor)	1131				0.444444	318.453904	319.109428	108	135	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		Missense_Mutation	SNP	121422775	121422775	3809	8	G	A	A	33	33	COL14A1	A	2	2
ZHX2	22882	broad.mit.edu	36	8	124033223	124033223	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124033223G>A	uc003ypk.1	+	c.292G>A	c.(292-294)GAC>AAC	p.D98N	ZHX2_uc010mdh.1_Missense_Mutation_p.D98N	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	98	C2H2-type 1.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)					Esophageal Squamous(94;1056 1388 11767 13799 49639)								0.52795	249.770781	249.879562	85	76	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Missense_Mutation	SNP	124033223	124033223	18267	8	G	A	A	37	37	ZHX2	A	1	1
ZHX2	22882	broad.mit.edu	36	8	124034350	124034350	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124034350C>T	uc003ypk.1	+	c.1419C>T	c.(1417-1419)ATC>ATT	p.I473I	ZHX2_uc010mdh.1_Silent_p.I473I	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	473	Required for interaction with NFYA.|Homeobox 2.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)					Esophageal Squamous(94;1056 1388 11767 13799 49639)								0.31405	92.608139	96.33053	38	83	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Silent	SNP	124034350	124034350	18267	8	C	T	T	31	31	ZHX2	T	1	1
ZHX2	22882	broad.mit.edu	36	8	124034821	124034821	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124034821G>A	uc003ypk.1	+	c.1890G>A	c.(1888-1890)TCG>TCA	p.S630S	ZHX2_uc010mdh.1_Silent_p.S630S	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	630	Homeobox 4.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)					Esophageal Squamous(94;1056 1388 11767 13799 49639)								0.167286	72.304068	100.539775	45	224	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Silent	SNP	124034821	124034821	18267	8	G	A	A	38	38	ZHX2	A	1	1
ZHX2	22882	broad.mit.edu	36	8	124035047	124035047	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124035047G>A	uc003ypk.1	+	c.2116G>A	c.(2116-2118)GAT>AAT	p.D706N	ZHX2_uc010mdh.1_Missense_Mutation_p.D706N	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	706						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)					Esophageal Squamous(94;1056 1388 11767 13799 49639)								0.186813	57.271708	73.918922	34	148	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Missense_Mutation	SNP	124035047	124035047	18267	8	G	A	A	37	37	ZHX2	A	1	1
WDR67	93594	broad.mit.edu	36	8	124158575	124158575	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124158575A>C	uc003ypp.1	+	c.121A>C	c.(121-123)AAA>CAA	p.K41Q	WDR67_uc003ypo.1_Missense_Mutation_p.K41Q|WDR67_uc003ypq.1_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67	41	WD 1.					intracellular	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)													0.329114	407.648894	417.857571	130	265	AA		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Missense_Mutation	SNP	124158575	124158575	17891	8	A	C	C	1	1	WDR67	C	4	4
FAM83A	84985	broad.mit.edu	36	8	124288817	124288817	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124288817G>A	uc003ypv.1	+	c.1013G>A	c.(1012-1014)CGC>CAC	p.R338H	FAM83A_uc003ypw.1_Missense_Mutation_p.R338H|FAM83A_uc003ypy.2_Missense_Mutation_p.R282H|FAM83A_uc003ypx.1_Missense_Mutation_p.R338H|FAM83A_uc003ypz.1_Missense_Mutation_p.R338H	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	338	Ser-rich.									ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)													0.340909	33.09782	34.088471	15	29	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Missense_Mutation	SNP	124288817	124288817	5859	8	G	A	A	38	38	FAM83A	A	1	1
C8orf76	84933	broad.mit.edu	36	8	124312856	124312856	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124312856G>A	uc003yqc.1	-	c.680C>T	c.(679-681)TCT>TTT	p.S227F	C8orf76_uc003yqd.2_Missense_Mutation_p.S195F	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	227							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)													0.350181	265.553823	271.055691	97	180	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Missense_Mutation	SNP	124312856	124312856	2549	8	G	A	A	33	33	C8orf76	A	2	2
ZHX1	11244	broad.mit.edu	36	8	124335475	124335475	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124335475T>G	uc003yqe.1	-	c.1893A>C	c.(1891-1893)GAA>GAC	p.E631D	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.1_Missense_Mutation_p.E631D|ZHX1_uc003yqg.1_Intron|ZHX1_uc010mdi.1_Missense_Mutation_p.E631D|ZHX1_uc010mdj.1_Missense_Mutation_p.E631D	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	631					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)													0.358852	237.478354	241.140112	75	134	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Missense_Mutation	SNP	124335475	124335475	18266	8	T	G	G	64	64	ZHX1	G	4	4
ZHX1	11244	broad.mit.edu	36	8	124336479	124336479	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124336479G>A	uc003yqe.1	-	c.889C>T	c.(889-891)CCC>TCC	p.P297S	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.1_Missense_Mutation_p.P297S|ZHX1_uc003yqg.1_Intron|ZHX1_uc010mdi.1_Missense_Mutation_p.P297S|ZHX1_uc010mdj.1_Missense_Mutation_p.P297S	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	297	Required for dimerization.|Homeobox 1.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)													0.176056	283.147993	367.429527	150	702	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Missense_Mutation	SNP	124336479	124336479	18266	8	G	A	A	41	41	ZHX1	A	2	2
ZHX1	11244	broad.mit.edu	36	8	124336956	124336956	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124336956G>A	uc003yqe.1	-	c.412C>T	c.(412-414)CGT>TGT	p.R138C	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.1_Missense_Mutation_p.R138C|ZHX1_uc003yqg.1_Intron|ZHX1_uc010mdi.1_Missense_Mutation_p.R138C|ZHX1_uc010mdj.1_Missense_Mutation_p.R138C	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	138					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)													0.197889	146.702069	178.922721	75	304	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Missense_Mutation	SNP	124336956	124336956	18266	8	G	A	A	40	40	ZHX1	A	1	1
ATAD2	29028	broad.mit.edu	36	8	124439083	124439083	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124439083T>C	uc003yqh.2	-	c.1457A>G	c.(1456-1458)CAA>CGA	p.Q486R	ATAD2_uc003yqi.2_Non-coding_Transcript|ATAD2_uc003yqj.2_Missense_Mutation_p.Q486R	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)													0.190955	82.245935	100.001194	38	161	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00288)		Missense_Mutation	SNP	124439083	124439083	1090	8	T	C	C	63	63	ATAD2	C	4	4
FBXO32	114907	broad.mit.edu	36	8	124587867	124587867	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124587867G>A	uc003yqr.1	-	c.780C>T	c.(778-780)AGC>AGT	p.S260S	FBXO32_uc003yqq.1_Silent_p.S115S|FBXO32_uc010mdk.1_Silent_p.S167S	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	260	F-box.									skin(1)	1	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)													0.308271	95.330615	99.686586	41	92	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00288)		Silent	SNP	124587867	124587867	5979	8	G	A	A	38	38	FBXO32	A	1	1
KLHL38	340359	broad.mit.edu	36	8	124733640	124733640	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124733640G>A	uc003yqs.1	-	c.708C>T	c.(706-708)ATC>ATT	p.I236I		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	236	BACK.										0														0.448598	270.063909	270.557278	96	118	GG		KEEP	---	---	---	---	capture			Silent	SNP	124733640	124733640	8704	8	G	A	A	37	37	KLHL38	A	1	1
KLHL38	340359	broad.mit.edu	36	8	124733842	124733842	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124733842G>A	uc003yqs.1	-	c.506C>T	c.(505-507)TCG>TTG	p.S169L		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	169	BACK.										0														0.138514	50.291841	87.689765	41	255	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124733842	124733842	8704	8	G	A	A	37	37	KLHL38	A	1	1
ANXA13	312	broad.mit.edu	36	8	124794137	124794137	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124794137C>A	uc003yqt.1	-	c.176G>T	c.(175-177)CGA>CTA	p.R59L	ANXA13_uc003yqu.1_Missense_Mutation_p.R18L	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	annexin A13 isoform b	18					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)	2	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)													0.158192	52.986428	72.702385	28	149	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00288)		Missense_Mutation	SNP	124794137	124794137	725	8	C	A	A	31	31	ANXA13	A	3	3
ANXA13	312	broad.mit.edu	36	8	124817291	124817291	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124817291G>T	uc003yqt.1	-	c.23C>A	c.(22-24)TCG>TAG	p.S8*	ANXA13_uc003yqu.1_Intron	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	annexin A13 isoform b	Error:Variant_position_missing_in_P27216_after_alignment					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)	2	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)													0.153153	49.610101	75.172219	34	188	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00288)		Nonsense_Mutation	SNP	124817291	124817291	725	8	G	T	T	37	37	ANXA13	T	5	3
FAM91A1	157769	broad.mit.edu	36	8	124858742	124858742	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124858742C>A	uc003yqv.1	+	c.366C>A	c.(364-366)GAC>GAA	p.D122E		NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	122										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)													0.163743	52.787112	71.157807	28	143	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00192)		Missense_Mutation	SNP	124858742	124858742	5887	8	C	A	A	20	20	FAM91A1	A	3	3
FAM91A1	157769	broad.mit.edu	36	8	124879532	124879532	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124879532G>A	uc003yqv.1	+	c.1433G>A	c.(1432-1434)CGC>CAC	p.R478H		NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	478										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)													0.5	1051.756011	1051.756011	371	371	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00192)		Missense_Mutation	SNP	124879532	124879532	5887	8	G	A	A	38	38	FAM91A1	A	1	1
FER1L6	654463	broad.mit.edu	36	8	125047605	125047605	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125047605G>A	uc003yqw.1	+	c.278G>A	c.(277-279)CGC>CAC	p.R93H		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	93	C2 1.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)													0.24	38.385081	42.965749	18	57	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00186)		Missense_Mutation	SNP	125047605	125047605	6052	8	G	A	A	38	38	FER1L6	A	1	1
FER1L6	654463	broad.mit.edu	36	8	125057354	125057354	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125057354G>T	uc003yqw.1	+	c.719G>T	c.(718-720)AGA>ATA	p.R240I		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	240	C2 2.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)													0.158915	119.465989	176.754296	82	434	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00186)		Missense_Mutation	SNP	125057354	125057354	6052	8	G	T	T	33	33	FER1L6	T	3	3
FER1L6	654463	broad.mit.edu	36	8	125062217	125062217	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125062217C>T	uc003yqw.1	+	c.1395C>T	c.(1393-1395)TTC>TTT	p.F465F		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	465	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.135135	13.099371	22.649006	10	64	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00186)		Silent	SNP	125062217	125062217	6052	8	C	T	T	31	31	FER1L6	T	1	1
FER1L6	654463	broad.mit.edu	36	8	125116743	125116743	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125116743C>T	uc003yqw.1	+	c.2331C>T	c.(2329-2331)GTC>GTT	p.V777V		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	777	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)													0.144578	48.854475	79.120228	36	213	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00186)		Silent	SNP	125116743	125116743	6052	8	C	T	T	31	31	FER1L6	T	1	1
FER1L6	654463	broad.mit.edu	36	8	125201151	125201151	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125201151T>C	uc003yqw.1	+	c.5513T>C	c.(5512-5514)CTC>CCC	p.L1838P		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1838	Helical; (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)													0.150794	163.570932	222.451724	76	428	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00186)		Missense_Mutation	SNP	125201151	125201151	6052	8	T	C	C	54	54	FER1L6	C	4	4
TRMT12	55039	broad.mit.edu	36	8	125533630	125533630	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125533630C>A	uc003yra.2	+	c.1281C>A	c.(1279-1281)TCC>TCA	p.S427S		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	427					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)													0.161074	37.594723	53.894817	24	125	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00288)		Silent	SNP	125533630	125533630	17114	8	C	A	A	24	24	TRMT12	A	3	3
RNF139	11236	broad.mit.edu	36	8	125568770	125568770	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125568770T>G	uc003yrc.1	+	c.1699T>G	c.(1699-1701)TTC>GTC	p.F567V		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	567	RING-type; atypical.			Missing: Increases proliferation. Rescues MHC class I to the cell surface. Fails to down-regulate SREBF1 and SREBF2.	regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	ligase activity|protein binding|receptor activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)													0.364162	203.087787	205.89222	63	110	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00288)		Missense_Mutation	SNP	125568770	125568770	13919	8	T	G	G	64	64	RNF139	G	4	4
MTSS1	9788	broad.mit.edu	36	8	125634453	125634453	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125634453C>A	uc003yrl.2	-	c.2241G>T	c.(2239-2241)AAG>AAT	p.K747N	MTSS1_uc003yrk.2_Missense_Mutation_p.K743N|MTSS1_uc003yrj.2_Missense_Mutation_p.K718N|MTSS1_uc003yrh.2_Missense_Mutation_p.K392N|MTSS1_uc003yri.2_Missense_Mutation_p.K461N	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	743	WH2.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)					Esophageal Squamous(160;622 1893 3862 8546 12509)								0.367893	537.15122	546.35774	220	378	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00288)		Missense_Mutation	SNP	125634453	125634453	10355	8	C	A	A	32	32	MTSS1	A	3	3
MTSS1	9788	broad.mit.edu	36	8	125637775	125637775	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125637775C>T	uc003yrl.2	-	c.1295G>A	c.(1294-1296)CGC>CAC	p.R432H	MTSS1_uc003yrk.2_Missense_Mutation_p.R428H|MTSS1_uc003yrj.2_Missense_Mutation_p.R403H|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc003yri.2_Missense_Mutation_p.R146H	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	428					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)					Esophageal Squamous(160;622 1893 3862 8546 12509)								0.136842	14.820496	26.94577	13	82	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00288)		Missense_Mutation	SNP	125637775	125637775	10355	8	C	T	T	27	27	MTSS1	T	1	1
ZNF572	137209	broad.mit.edu	36	8	126059071	126059071	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:126059071G>A	uc003yrr.1	+	c.1380G>A	c.(1378-1380)AGG>AGA	p.R460R		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	460	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)													0.381443	718.15131	726.522835	259	420	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Silent	SNP	126059071	126059071	18599	8	G	A	A	41	41	ZNF572	A	2	2
SQLE	6713	broad.mit.edu	36	8	126099579	126099579	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:126099579T>G	uc003yrs.1	+	c.1301T>G	c.(1300-1302)CTG>CGG	p.L434R		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	434					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)	1	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)				Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)									0.126712	54.477078	94.175861	37	255	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Missense_Mutation	SNP	126099579	126099579	15642	8	T	G	G	55	55	SQLE	G	4	4
KIAA0196	9897	broad.mit.edu	36	8	126142546	126142546	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:126142546G>A	uc003yrt.1	-	c.1481C>T	c.(1480-1482)GCG>GTG	p.A494V	KIAA0196_uc003yru.1_Missense_Mutation_p.A68V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	494					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)													0.717791	359.022573	365.963703	117	46	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Missense_Mutation	SNP	126142546	126142546	8468	8	G	A	A	38	38	KIAA0196	A	1	1
KIAA0196	9897	broad.mit.edu	36	8	126145014	126145014	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:126145014G>A	uc003yrt.1	-	c.1340C>T	c.(1339-1341)TCG>TTG	p.S447L	KIAA0196_uc003yru.1_Missense_Mutation_p.S21L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	447					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)													0.28266	290.529078	308.406877	119	302	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Missense_Mutation	SNP	126145014	126145014	8468	8	G	A	A	37	37	KIAA0196	A	1	1
LONRF1	91694	broad.mit.edu	36	8	12627754	12627754	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:12627754C>T	uc003wwd.1	-	c.2016G>A	c.(2014-2016)GAG>GAA	p.E672E	LONRF1_uc010lsp.1_Silent_p.E272E	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	672	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1														0.195489	56.868716	68.370033	26	107	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(644;0.236)	Silent	SNP	12627754	12627754	9266	8	C	T	T	32	32	LONRF1	T	2	2
LONRF1	91694	broad.mit.edu	36	8	12637254	12637254	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:12637254G>T	uc003wwd.1	-	c.1478C>A	c.(1477-1479)CCT>CAT	p.P493H	LONRF1_uc010lsp.1_Missense_Mutation_p.P93H	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	493	RING-type 2.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1														0.326087	38.405522	39.641727	15	31	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(644;0.236)	Missense_Mutation	SNP	12637254	12637254	9266	8	G	T	T	35	35	LONRF1	T	3	3
NSMCE2	286053	broad.mit.edu	36	8	126438648	126438648	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:126438648C>A	uc003yrw.1	+	c.424C>A	c.(424-426)CTT>ATT	p.L142I		NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog	142					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)	1	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)													0.272727	110.023159	118.745554	51	136	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.000918)		Missense_Mutation	SNP	126438648	126438648	11081	8	C	A	A	32	32	NSMCE2	A	3	3
GSDMC	56169	broad.mit.edu	36	8	130858985	130858985	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:130858985T>A	uc003ysr.1	-	c.31A>T	c.(31-33)AAT>TAT	p.N11Y		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	11						mitochondrion				ovary(2)	2														0.203077	126.170665	152.783616	66	259	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130858985	130858985	7098	8	T	A	A	64	64	GSDMC	A	4	4
ASAP1	50807	broad.mit.edu	36	8	131136208	131136208	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:131136208T>G	uc003yta.1	-	c.3341A>C	c.(3340-3342)GAA>GCA	p.E1114A	ASAP1_uc003ysz.1_Missense_Mutation_p.E925A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	1114	SH3.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4														0.484163	365.433943	365.481169	107	114	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131136208	131136208	1028	8	T	G	G	62	62	ASAP1	G	4	4
ADCY8	114	broad.mit.edu	36	8	131881889	131881889	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:131881889G>A	uc003ytd.2	-	c.3025C>T	c.(3025-3027)CGC>TGC	p.R1009C	ADCY8_uc010mds.1_Missense_Mutation_p.R878C	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1009	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)													0.469388	452.833894	453.114008	161	182	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000538)		Missense_Mutation	SNP	131881889	131881889	301	8	G	A	A	38	38	ADCY8	A	1	1
ADCY8	114	broad.mit.edu	36	8	131895559	131895559	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:131895559G>T	uc003ytd.2	-	c.2851C>A	c.(2851-2853)CTC>ATC	p.L951I	ADCY8_uc010mds.1_Missense_Mutation_p.L820I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	951	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)													0.309645	148.28911	154.657337	61	136	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000538)		Missense_Mutation	SNP	131895559	131895559	301	8	G	T	T	34	34	ADCY8	T	3	3
ADCY8	114	broad.mit.edu	36	8	131917796	131917796	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:131917796G>A	uc003ytd.2	-	c.2584C>T	c.(2584-2586)CTG>TTG	p.L862L	ADCY8_uc010mds.1_Silent_p.L731L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	862	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)													0.235632	94.37683	105.506054	41	133	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000538)		Silent	SNP	131917796	131917796	301	8	G	A	A	34	34	ADCY8	A	2	2
ADCY8	114	broad.mit.edu	36	8	132120925	132120925	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:132120925G>A	uc003ytd.2	-	c.837C>T	c.(835-837)TTC>TTT	p.F279F	ADCY8_uc010mds.1_Silent_p.F279F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	279	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)													0.457143	89.492364	89.604063	32	38	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000538)		Silent	SNP	132120925	132120925	301	8	G	A	A	37	37	ADCY8	A	1	1
ADCY8	114	broad.mit.edu	36	8	132121184	132121184	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:132121184T>G	uc003ytd.2	-	c.578A>C	c.(577-579)AAA>ACA	p.K193T	ADCY8_uc010mds.1_Missense_Mutation_p.K193T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	193	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)													0.177778	52.214677	65.425324	24	111	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000538)		Missense_Mutation	SNP	132121184	132121184	301	8	T	G	G	64	64	ADCY8	G	4	4
EFR3A	23167	broad.mit.edu	36	8	133049784	133049784	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133049784G>T	uc003yte.1	+	c.916G>T	c.(916-918)GAT>TAT	p.D306Y		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	306						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)													0.188889	29.915275	38.074903	17	73	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		Missense_Mutation	SNP	133049784	133049784	5146	8	G	T	T	33	33	EFR3A	T	3	3
EFR3A	23167	broad.mit.edu	36	8	133051966	133051966	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133051966C>T	uc003yte.1	+	c.1053C>T	c.(1051-1053)TTC>TTT	p.F351F		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	351						plasma membrane	binding	p.S348fs*15(1)		ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)													0.5	210.459431	210.459431	73	73	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		Silent	SNP	133051966	133051966	5146	8	C	T	T	31	31	EFR3A	T	1	1
KCNQ3	3786	broad.mit.edu	36	8	133210959	133210959	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133210959C>T	uc003ytj.1	-	c.2351G>A	c.(2350-2352)CGA>CAA	p.R784Q	KCNQ3_uc010mdt.1_Missense_Mutation_p.R772Q	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	784					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)													0.252427	58.49715	64.234881	26	77	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000311)		Missense_Mutation	SNP	133210959	133210959	8389	8	C	T	T	31	31	KCNQ3	T	1	1
KCNQ3	3786	broad.mit.edu	36	8	133261683	133261683	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133261683C>T	uc003ytj.1	-	c.680G>A	c.(679-681)CGA>CAA	p.R227Q	KCNQ3_uc010mdt.1_Missense_Mutation_p.R227Q	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	227	Helical; Voltage-sensor; Name=Segment S4; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)													0.246753	126.300237	139.763296	57	174	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000311)		Missense_Mutation	SNP	133261683	133261683	8389	8	C	T	T	31	31	KCNQ3	T	1	1
KCNQ3	3786	broad.mit.edu	36	8	133261747	133261747	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133261747G>T	uc003ytj.1	-	c.616C>A	c.(616-618)CTG>ATG	p.L206M	KCNQ3_uc010mdt.1_Missense_Mutation_p.L206M	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	206	Helical; Name=Segment S3; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)													0.324468	161.903187	167.047609	61	127	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000311)		Missense_Mutation	SNP	133261747	133261747	8389	8	G	T	T	34	34	KCNQ3	T	3	3
LRRC6	23639	broad.mit.edu	36	8	133738307	133738307	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133738307T>C	uc003ytk.1	-	c.207A>G	c.(205-207)GAA>GAG	p.E69E	LRRC6_uc010mdu.1_Silent_p.E69E|LRRC6_uc003ytl.1_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	69	LRR 3.					cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)													0.176471	14.830411	18.182758	6	28	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000311)		Silent	SNP	133738307	133738307	9391	8	T	C	C	52	52	LRRC6	C	4	4
PHF20L1	51105	broad.mit.edu	36	8	133896183	133896183	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133896183G>T	uc003ytt.1	+	c.1050G>T	c.(1048-1050)AAG>AAT	p.K350N	PHF20L1_uc003yts.1_Missense_Mutation_p.K350N|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	350							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)													0.432143	326.20267	327.331952	121	159	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		Missense_Mutation	SNP	133896183	133896183	12255	8	G	T	T	33	33	PHF20L1	T	3	3
PHF20L1	51105	broad.mit.edu	36	8	133905437	133905437	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133905437C>T	uc003ytt.1	+	c.1586C>T	c.(1585-1587)TCG>TTG	p.S529L	PHF20L1_uc003yts.1_Missense_Mutation_p.S529L|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	529							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)													0.402985	148.915054	150.019871	54	80	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		Missense_Mutation	SNP	133905437	133905437	12255	8	C	T	T	31	31	PHF20L1	T	1	1
TG	7038	broad.mit.edu	36	8	133954518	133954518	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133954518C>T	uc003ytw.1	+	c.508C>T	c.(508-510)CGT>TGT	p.R170C		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin	170	Thyroglobulin type-1 3.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)							p.R170C(HT1376-Tumor)	1778				0.191304	42.578055	52.824415	22	93	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Missense_Mutation	SNP	133954518	133954518	16341	8	C	T	T	31	31	TG	T	1	1
TG	7038	broad.mit.edu	36	8	133968949	133968949	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133968949G>A	uc003ytw.1	+	c.2150G>A	c.(2149-2151)CGA>CAA	p.R717Q		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin	717	Thyroglobulin type-1 6.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)								1778				0.227642	123.562372	140.31789	56	190	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Missense_Mutation	SNP	133968949	133968949	16341	8	G	A	A	37	37	TG	A	1	1
TG	7038	broad.mit.edu	36	8	133969543	133969543	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133969543G>A	uc003ytw.1	+	c.2309G>A	c.(2308-2310)AGA>AAA	p.R770K		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin	770	Thyroglobulin type-1 7.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)								1778				0.234568	45.381165	50.604074	19	62	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Missense_Mutation	SNP	133969543	133969543	16341	8	G	A	A	33	33	TG	A	2	2
DLC1	10395	broad.mit.edu	36	8	13400939	13400939	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:13400939C>T	uc003wwm.1	-	c.1013G>A	c.(1012-1014)CGT>CAT	p.R338H	DLC1_uc003wwn.1_Missense_Mutation_p.R338H	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	338					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7									p.R338H(RERFLCMS-Tumor)	739				0.206452	64.608379	76.996123	32	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13400939	13400939	4730	8	C	T	T	19	19	DLC1	T	1	1
DLC1	10395	broad.mit.edu	36	8	13401269	13401269	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:13401269G>T	uc003wwm.1	-	c.683C>A	c.(682-684)TCT>TAT	p.S228Y	DLC1_uc003wwn.1_Missense_Mutation_p.S228Y	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	228					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7										739				0.191638	197.07934	248.12012	110	464	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13401269	13401269	4730	8	G	T	T	33	33	DLC1	T	3	3
TG	7038	broad.mit.edu	36	8	134017200	134017200	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134017200G>A	uc003ytw.1	+	c.4950G>A	c.(4948-4950)GGG>GGA	p.G1650G	TG_uc010mdw.1_Silent_p.G409G	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin	1650	Type IIIA.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)								1778				0.151163	19.821643	29.847126	13	73	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Silent	SNP	134017200	134017200	16341	8	G	A	A	41	41	TG	A	2	2
TG	7038	broad.mit.edu	36	8	134022891	134022891	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134022891G>A	uc003ytw.1	+	c.5155G>A	c.(5155-5157)GAT>AAT	p.D1719N	TG_uc010mdw.1_Missense_Mutation_p.D478N	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin	1719	Type IIIA.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)								1778				0.468599	276.954284	277.131814	97	110	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Missense_Mutation	SNP	134022891	134022891	16341	8	G	A	A	37	37	TG	A	1	1
SLA	6503	broad.mit.edu	36	8	134126527	134126527	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134126527G>A	uc003yty.1	-	c.368C>T	c.(367-369)TCG>TTG	p.S123L	TG_uc003ytw.1_Intron|TG_uc010mdw.1_Intron|SLA_uc003ytz.1_Missense_Mutation_p.S123L|SLA_uc003yua.1_Missense_Mutation_p.S123L	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform c	123	SH2.					endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)												0.451613	118.336855	118.526478	42	51	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000701)		Missense_Mutation	SNP	134126527	134126527	14858	8	G	A	A	37	37	SLA	A	1	1
TG	7038	broad.mit.edu	36	8	134177676	134177676	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134177676C>T	uc003ytw.1	+	c.7449C>T	c.(7447-7449)ATC>ATT	p.I2483I	TG_uc010mdw.1_Silent_p.I1242I|SLA_uc003ytz.1_Intron|SLA_uc003yua.1_Intron|SLA_uc010mea.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin	2483					hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)								1778				0.250575	240.881775	265.479994	109	326	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Silent	SNP	134177676	134177676	16341	8	C	T	T	31	31	TG	T	1	1
WISP1	8840	broad.mit.edu	36	8	134306943	134306943	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134306943C>T	uc003yub.1	+	c.739C>T	c.(739-741)CCT>TCT	p.P247S	WISP1_uc003yuc.1_Missense_Mutation_p.P160S|WISP1_uc010meb.1_Missense_Mutation_p.P75S|WISP1_uc010mec.1_Intron|WISP1_uc010med.1_Intron|WISP1_uc003yud.1_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	247	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)													0.458333	150.325314	150.503837	55	65	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0107)		Missense_Mutation	SNP	134306943	134306943	17946	8	C	T	T	26	26	WISP1	T	2	2
ST3GAL1	6482	broad.mit.edu	36	8	134541281	134541281	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134541281G>A	uc003yul.1	-	c.931C>T	c.(931-933)CGC>TGC	p.R311C	ST3GAL1_uc003yum.1_Missense_Mutation_p.R311C|ST3GAL1_uc003yuk.1_5'Flank	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	311	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)													0.463357	552.055395	552.54876	196	227	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.00721)		Missense_Mutation	SNP	134541281	134541281	15732	8	G	A	A	37	37	ST3GAL1	A	1	1
ST3GAL1	6482	broad.mit.edu	36	8	134547393	134547393	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134547393G>A	uc003yul.1	-	c.429C>T	c.(427-429)GCC>GCT	p.A143A	ST3GAL1_uc003yum.1_Silent_p.A143A	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	143	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)													0.214575	112.712404	131.246827	53	194	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.00721)		Silent	SNP	134547393	134547393	15732	8	G	A	A	39	39	ST3GAL1	A	1	1
ZFAT	57623	broad.mit.edu	36	8	135683912	135683912	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:135683912C>T	uc003yup.1	-	c.1232G>A	c.(1231-1233)CGC>CAC	p.R411H	ZFAT_uc003yun.1_Missense_Mutation_p.R399H|ZFAT_uc003yuo.1_Missense_Mutation_p.R399H|ZFAT_uc010meh.1_Missense_Mutation_p.R399H|ZFAT_uc010mei.1_Non-coding_Transcript|ZFAT_uc003yuq.1_Missense_Mutation_p.R399H|ZFAT_uc010mej.1_Missense_Mutation_p.R349H|ZFAT_uc003yur.1_Missense_Mutation_p.R399H	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	411	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)													0.419355	137.770493	138.475438	52	72	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0432)		Missense_Mutation	SNP	135683912	135683912	18220	8	C	T	T	27	27	ZFAT	T	1	1
ZFAT	57623	broad.mit.edu	36	8	135691982	135691982	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:135691982T>C	uc003yup.1	-	c.547A>G	c.(547-549)AAG>GAG	p.K183E	ZFAT_uc003yun.1_Missense_Mutation_p.K171E|ZFAT_uc003yuo.1_Missense_Mutation_p.K171E|ZFAT_uc010meh.1_Missense_Mutation_p.K171E|ZFAT_uc010mei.1_Non-coding_Transcript|ZFAT_uc003yuq.1_Missense_Mutation_p.K171E|ZFAT_uc010mej.1_Intron|ZFAT_uc003yur.1_Missense_Mutation_p.K171E	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)													0.239819	154.578148	168.222593	53	168	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0432)		Missense_Mutation	SNP	135691982	135691982	18220	8	T	C	C	62	62	ZFAT	C	4	4
COL22A1	169044	broad.mit.edu	36	8	139670836	139670836	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139670836C>T	uc003yvd.1	-	c.4723G>A	c.(4723-4725)GAT>AAT	p.D1575N	COL22A1_uc003yvc.1_Missense_Mutation_p.D693N	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1575	Pro-rich.|Gly-rich.|Collagen-like 16.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	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)													0.28125	49.421342	52.17449	18	46	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Missense_Mutation	SNP	139670836	139670836	3819	8	C	T	T	32	32	COL22A1	T	2	2
COL22A1	169044	broad.mit.edu	36	8	139686162	139686162	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139686162C>A	uc003yvd.1	-	c.4137G>T	c.(4135-4137)AAG>AAT	p.K1379N	COL22A1_uc003yvc.1_Missense_Mutation_p.K497N	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1379	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	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)													0.4375	77.885946	78.104636	28	36	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Missense_Mutation	SNP	139686162	139686162	3819	8	C	A	A	24	24	COL22A1	A	3	3
COL22A1	169044	broad.mit.edu	36	8	139700910	139700910	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139700910T>C	uc003yvd.1	-	c.3795A>G	c.(3793-3795)CTA>CTG	p.L1265L	COL22A1_uc003yvc.1_Silent_p.L383L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1265	Pro-rich.|Gly-rich.|Collagen-like 12.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	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)													0.205607	170.316827	196.080147	66	255	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Silent	SNP	139700910	139700910	3819	8	T	C	C	57	57	COL22A1	C	4	4
COL22A1	169044	broad.mit.edu	36	8	139718202	139718202	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139718202C>A	uc003yvd.1	-	c.3520G>T	c.(3520-3522)GGT>TGT	p.G1174C	COL22A1_uc003yvc.1_Missense_Mutation_p.G292C	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1174	Pro-rich.|Gly-rich.|Collagen-like 11.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	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)													0.162207	156.478501	221.40867	97	501	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Missense_Mutation	SNP	139718202	139718202	3819	8	C	A	A	21	21	COL22A1	A	3	3
COL22A1	169044	broad.mit.edu	36	8	139797671	139797671	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139797671C>T	uc003yvd.1	-	c.2444G>A	c.(2443-2445)AGA>AAA	p.R815K	COL22A1_uc003yvc.1_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	815	Pro-rich.|Gly-rich.|Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	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)													0.1875	10.828469	13.758	6	26	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Missense_Mutation	SNP	139797671	139797671	3819	8	C	T	T	32	32	COL22A1	T	2	2
COL22A1	169044	broad.mit.edu	36	8	139798280	139798280	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139798280C>T	uc003yvd.1	-	c.2370G>A	c.(2368-2370)GAG>GAA	p.E790E	COL22A1_uc003yvc.1_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	790	Pro-rich.|Gly-rich.|Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	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)													0.185714	24.530101	31.015444	13	57	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Silent	SNP	139798280	139798280	3819	8	C	T	T	28	28	COL22A1	T	2	2
COL22A1	169044	broad.mit.edu	36	8	139860977	139860977	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139860977C>A	uc003yvd.1	-	c.1661G>T	c.(1660-1662)GGA>GTA	p.G554V		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	554	Pro-rich.|Gly-rich.|Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	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)													0.214286	65.405294	77.007555	33	121	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Missense_Mutation	SNP	139860977	139860977	3819	8	C	A	A	30	30	COL22A1	A	3	3
COL22A1	169044	broad.mit.edu	36	8	139959186	139959186	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139959186C>T	uc003yvd.1	-	c.647G>A	c.(646-648)CGT>CAT	p.R216H		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	216					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	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)													0.371134	90.560562	91.980529	36	61	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Missense_Mutation	SNP	139959186	139959186	3819	8	C	T	T	19	19	COL22A1	T	1	1
COL22A1	169044	broad.mit.edu	36	8	139959584	139959584	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139959584G>A	uc003yvd.1	-	c.249C>T	c.(247-249)AGC>AGT	p.S83S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	83	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	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)													0.208333	10.063143	11.953309	5	19	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Silent	SNP	139959584	139959584	3819	8	G	A	A	38	38	COL22A1	A	1	1
KCNK9	51305	broad.mit.edu	36	8	140700482	140700482	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:140700482A>C	uc003yvf.1	-	c.326T>G	c.(325-327)TTC>TGC	p.F109C	KCNK9_uc003yvg.1_Missense_Mutation_p.F109C|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	109	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)												0.183333	26.394381	32.036856	11	49	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Missense_Mutation	SNP	140700482	140700482	8377	8	A	C	C	9	9	KCNK9	C	4	4
TRAPPC9	83696	broad.mit.edu	36	8	140991629	140991629	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:140991629G>A	uc003yvh.1	-	c.3202C>T	c.(3202-3204)CGG>TGG	p.R1068W	TRAPPC9_uc010mel.1_Missense_Mutation_p.R391W|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R961W|TRAPPC9_uc003yvj.1_Missense_Mutation_p.R970W	NM_031466	NP_113654	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	970					cell differentiation	endoplasmic reticulum|Golgi apparatus					0														0.182266	62.205163	81.425153	37	166	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140991629	140991629	17009	8	G	A	A	38	38	TRAPPC9	A	1	1
TRAPPC9	83696	broad.mit.edu	36	8	141390627	141390627	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:141390627C>T	uc003yvh.1	-	c.1818G>A	c.(1816-1818)GAG>GAA	p.E606E	TRAPPC9_uc003yvi.1_Silent_p.E499E|TRAPPC9_uc003yvj.1_Silent_p.E508E	NM_031466	NP_113654	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	508					cell differentiation	endoplasmic reticulum|Golgi apparatus					0														0.22093	87.850355	100.187217	38	134	CC		KEEP	---	---	---	---	capture			Silent	SNP	141390627	141390627	17009	8	C	T	T	32	32	TRAPPC9	T	2	2
TRAPPC9	83696	broad.mit.edu	36	8	141484932	141484932	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:141484932C>T	uc003yvh.1	-	c.1228G>A	c.(1228-1230)GGA>AGA	p.G410R	TRAPPC9_uc003yvi.1_Missense_Mutation_p.G303R|TRAPPC9_uc003yvj.1_Missense_Mutation_p.G312R	NM_031466	NP_113654	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	312					cell differentiation	endoplasmic reticulum|Golgi apparatus					0														0.195804	59.61882	71.953715	28	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141484932	141484932	17009	8	C	T	T	23	23	TRAPPC9	T	1	1
EIF2C2	27161	broad.mit.edu	36	8	141626888	141626888	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:141626888C>A	uc003yvn.1	-	c.1609G>T	c.(1609-1611)GAC>TAC	p.D537Y	EIF2C2_uc010men.1_Missense_Mutation_p.D460Y|EIF2C2_uc010meo.1_Missense_Mutation_p.D537Y	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	eukaryotic translation initiation factor 2C, 2	537	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-microRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)												0.236842	54.254768	61.482652	27	87	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.158)		Missense_Mutation	SNP	141626888	141626888	5195	8	C	A	A	32	32	EIF2C2	A	3	3
PTK2	5747	broad.mit.edu	36	8	141814661	141814661	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:141814661C>T	uc003yvt.1	-	c.1967G>A	c.(1966-1968)CGA>CAA	p.R656Q	PTK2_uc003yvo.1_Missense_Mutation_p.R262Q|PTK2_uc003yvp.1_Missense_Mutation_p.R302Q|PTK2_uc003yvq.1_Missense_Mutation_p.R160Q|PTK2_uc003yvr.1_Missense_Mutation_p.R574Q|PTK2_uc003yvs.1_Missense_Mutation_p.R634Q|PTK2_uc003yvu.1_Missense_Mutation_p.R634Q|PTK2_uc003yvv.1_Missense_Mutation_p.R534Q|MIR151_hsa-mir-151|MI0000809_5'Flank	NM_005607	NP_005598	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform b	634	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)								917				0.389189	199.750862	201.74309	72	113	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.137)		Missense_Mutation	SNP	141814661	141814661	13217	8	C	T	T	31	31	PTK2	T	1	1
PTK2	5747	broad.mit.edu	36	8	141843566	141843566	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:141843566C>A	uc003yvt.1	-	c.1249G>T	c.(1249-1251)GAT>TAT	p.D417Y	PTK2_uc003yvo.1_Missense_Mutation_p.D23Y|PTK2_uc003yvp.1_Missense_Mutation_p.D56Y|PTK2_uc003yvq.1_5'UTR|PTK2_uc003yvr.1_Missense_Mutation_p.D328Y|PTK2_uc003yvs.1_Missense_Mutation_p.D395Y|PTK2_uc003yvu.1_Missense_Mutation_p.D395Y|PTK2_uc003yvv.1_Missense_Mutation_p.D288Y	NM_005607	NP_005598	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform b	395					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)								917				0.209386	115.576188	137.251711	58	219	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.137)		Missense_Mutation	SNP	141843566	141843566	13217	8	C	A	A	32	32	PTK2	A	3	3
DENND3	22898	broad.mit.edu	36	8	142220534	142220534	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:142220534C>T	uc003yvy.1	+	c.312C>T	c.(310-312)TGC>TGT	p.C104C	DENND3_uc003yvw.1_Silent_p.C117C|DENND3_uc003yvx.2_Missense_Mutation_p.A183V|DENND3_uc010mep.1_Silent_p.C117C	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	104										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)													0.175	70.410704	94.354653	42	198	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.105)		Silent	SNP	142220534	142220534	4611	8	C	T	T	28	28	DENND3	T	2	2
SLC45A4	57210	broad.mit.edu	36	8	142290825	142290825	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:142290825G>A	uc003ywd.1	-	c.2295C>T	c.(2293-2295)AGC>AGT	p.S765S	SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	Error:Variant_position_missing_in_Q5BKX6_after_alignment					transmembrane transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)													0.413249	357.450498	359.537103	131	186	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0493)		Silent	SNP	142290825	142290825	15140	8	G	A	A	38	38	SLC45A4	A	1	1
GPR20	2843	broad.mit.edu	36	8	142436321	142436321	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:142436321G>A	uc003ywf.1	-	c.885C>T	c.(883-885)ATC>ATT	p.I295I	GPR20_uc010mer.1_Silent_p.I295I	NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	295	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)													0.1375	27.540144	47.888479	22	138	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0415)		Silent	SNP	142436321	142436321	6955	8	G	A	A	37	37	GPR20	A	1	1
FLJ43860	389690	broad.mit.edu	36	8	142550473	142550473	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:142550473G>A	uc003ywi.2	-	c.1870C>T	c.(1870-1872)CCA>TCA	p.P624S	FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	624							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)													0.428571	157.647541	158.240329	57	76	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0493)		Missense_Mutation	SNP	142550473	142550473	6170	8	G	A	A	42	42	FLJ43860	A	2	2
FLJ43860	389690	broad.mit.edu	36	8	142552164	142552164	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:142552164G>T	uc003ywi.2	-	c.1837C>A	c.(1837-1839)CTC>ATC	p.L613I	FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	613							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)													0.375	38.811128	39.36122	15	25	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0493)		Missense_Mutation	SNP	142552164	142552164	6170	8	G	T	T	35	35	FLJ43860	T	3	3
TSNARE1	203062	broad.mit.edu	36	8	143393670	143393670	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143393670C>T	uc003ywj.1	-	c.1113G>A	c.(1111-1113)GCG>GCA	p.A371A	TSNARE1_uc003ywk.1_Silent_p.A371A|TSNARE1_uc003ywl.2_Silent_p.A151A	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	371					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)													0.444444	78.612208	78.777361	28	35	CC		KEEP	---	---	---	---	capture			Silent	SNP	143393670	143393670	17181	8	C	T	T	27	27	TSNARE1	T	1	1
LY6K	54742	broad.mit.edu	36	8	143781648	143781648	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143781648C>T	uc003ywv.1	+	c.529C>T	c.(529-531)CGC>TGC	p.R177C		NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	119	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				central_nervous_system(1)	1	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.44186	208.888913	209.4076	76	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143781648	143781648	9475	8	C	T	T	31	31	LY6K	T	1	1
LYNX1	66004	broad.mit.edu	36	8	143843493	143843493	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143843493G>T	uc003yxb.1	-	c.222C>A	c.(220-222)TGC>TGA	p.C74*	LYNX1_uc003yxa.1_Nonsense_Mutation_p.C40*	NM_023946	NP_076435	Q9BZG9	LYNX1_HUMAN	Ly-6 neurotoxin-like protein 1 isoform a	Error:Variant_position_missing_in_Q9BZG9_after_alignment						anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.255319	28.176162	30.730313	12	35	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	143843493	143843493	9485	8	G	T	T	42	42	LYNX1	T	5	3
GML	2765	broad.mit.edu	36	8	143924971	143924971	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143924971G>A	uc003yxg.1	+	c.340G>A	c.(340-342)GGA>AGA	p.G114R		NM_002066	NP_002057	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule	114	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				central_nervous_system(2)	2	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.220264	120.917748	137.283635	50	177	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143924971	143924971	6761	8	G	A	A	35	35	GML	A	2	2
CYP11B1	1584	broad.mit.edu	36	8	143957560	143957560	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143957560C>T	uc010mey.1	-	c.420G>A	c.(418-420)GAG>GAA	p.E140E	CYP11B1_uc003yxh.1_5'Flank|CYP11B1_uc003yxi.1_Silent_p.E95E|CYP11B1_uc003yxj.1_Silent_p.E95E	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	95					aldosterone biosynthetic process|cortisol biosynthetic process|glucose homeostasis|immune response|oxidation-reduction process|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									0.256545	126.285226	136.549633	49	142	CC		KEEP	---	---	---	---	capture			Silent	SNP	143957560	143957560	4310	8	C	T	T	24	24	CYP11B1	T	2	2
ZNF696	79943	broad.mit.edu	36	8	144449856	144449856	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144449856C>T	uc003yxy.2	+	c.636C>T	c.(634-636)GCC>GCT	p.A212A		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	212	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)													0.428571	35.396642	35.520925	12	16	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Silent	SNP	144449856	144449856	18694	8	C	T	T	23	23	ZNF696	T	1	1
TOP1MT	116447	broad.mit.edu	36	8	144471583	144471583	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144471583C>T	uc003yxz.1	-	c.1195G>A	c.(1195-1197)GAC>AAC	p.D399N	TOP1MT_uc010mfb.1_Missense_Mutation_p.D301N|TOP1MT_uc010mfc.1_Missense_Mutation_p.D9N|TOP1MT_uc010mfd.1_Missense_Mutation_p.D194N	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I	399					DNA topological change|DNA unwinding involved in replication	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)				Irinotecan(DB00762)|Topotecan(DB01030)									0.143885	26.614397	43.589128	20	119	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Missense_Mutation	SNP	144471583	144471583	16906	8	C	T	T	31	31	TOP1MT	T	1	1
SGCZ	137868	broad.mit.edu	36	8	14456712	14456712	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:14456712C>T	uc003wwq.1	-	c.134G>A	c.(133-135)CGA>CAA	p.R45Q	SGCZ_uc010lss.1_Missense_Mutation_p.R32Q	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	32	Cytoplasmic (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3														0.19802	154.563072	188.883234	80	324	CC		KEEP	---	---	---	---	capture		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	Missense_Mutation	SNP	14456712	14456712	14695	8	C	T	T	31	31	SGCZ	T	1	1
GSDMD	79792	broad.mit.edu	36	8	144715370	144715370	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144715370C>A	uc003yyf.1	+	c.1066C>A	c.(1066-1068)CTG>ATG	p.L356M	GSDMD_uc010mfe.1_Missense_Mutation_p.L308M|GSDMD_uc003yyg.1_Missense_Mutation_p.L308M|GSDMD_uc003yyh.1_Missense_Mutation_p.L239M	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	308											0														0.14876	25.472463	39.799384	18	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144715370	144715370	7099	8	C	A	A	28	28	GSDMD	A	3	3
EEF1D	1936	broad.mit.edu	36	8	144734639	144734639	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144734639G>A	uc003yyq.1	-	c.1440C>T	c.(1438-1440)AGC>AGT	p.S480S	EEF1D_uc003yyp.1_Silent_p.S406S|EEF1D_uc003yyr.1_Silent_p.S430S|EEF1D_uc003yys.1_Silent_p.S64S|EEF1D_uc003yyt.1_Silent_p.S430S|EEF1D_uc003yyu.1_Silent_p.S64S|EEF1D_uc003yyv.1_Silent_p.S40S	NM_032378	NP_115754	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	64					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)									610				0.258065	17.484945	19.130082	8	23	GG		KEEP	---	---	---	---	capture	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		Silent	SNP	144734639	144734639	5113	8	G	A	A	34	34	EEF1D	A	2	2
TIGD5	84948	broad.mit.edu	36	8	144752889	144752889	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144752889C>A	uc003yyx.1	+	c.1526C>A	c.(1525-1527)CCT>CAT	p.P509H	EEF1D_uc003yyr.1_5'Flank|EEF1D_uc003yys.1_5'Flank|EEF1D_uc003yyt.1_5'Flank|EEF1D_uc003yyu.1_5'Flank|EEF1D_uc003yyv.1_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	558						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)													0.307692	9.393851	9.823212	4	9	CC		KEEP	---	---	---	---	capture	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		Missense_Mutation	SNP	144752889	144752889	16428	8	C	A	A	24	24	TIGD5	A	3	3
ZNF623	9831	broad.mit.edu	36	8	144803616	144803616	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144803616C>T	uc003yzd.2	+	c.431C>T	c.(430-432)TCG>TTG	p.S144L	ZNF623_uc003yzc.2_Missense_Mutation_p.S104L	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	144	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion 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)													0.200935	85.902701	103.700334	43	171	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144803616	144803616	18642	8	C	T	T	31	31	ZNF623	T	1	1
MAPK15	225689	broad.mit.edu	36	8	144873556	144873556	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144873556C>T	uc003yzj.1	+	c.637C>T	c.(637-639)CGG>TGG	p.R213W		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	213	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	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)									103				0.229358	52.246394	59.550274	25	84	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144873556	144873556	9660	8	C	T	T	27	27	MAPK15	T	1	1
MAPK15	225689	broad.mit.edu	36	8	144874891	144874891	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144874891G>A	uc003yzj.1	+	c.810G>A	c.(808-810)CCG>CCA	p.P270P		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	270	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	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)									103				0.142857	6.530966	11.693296	6	36	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Silent	SNP	144874891	144874891	9660	8	G	A	A	38	38	MAPK15	A	1	1
FAM83H	286077	broad.mit.edu	36	8	144880394	144880394	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144880394C>T	uc003yzk.1	-	c.3225G>A	c.(3223-3225)CCG>CCA	p.P1075P	FAM83H_uc010mfk.1_Non-coding_Transcript	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	hypothetical protein LOC286077	1075					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.186047	16.578385	20.547825	8	35	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Silent	SNP	144880394	144880394	5866	8	C	T	T	23	23	FAM83H	T	1	1
FAM83H	286077	broad.mit.edu	36	8	144882190	144882190	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144882190G>A	uc003yzk.1	-	c.1429C>T	c.(1429-1431)CGC>TGC	p.R477C	FAM83H_uc010mfk.1_Non-coding_Transcript	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	hypothetical protein LOC286077	477					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.333333	19.692634	20.282732	8	16	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144882190	144882190	5866	8	G	A	A	37	37	FAM83H	A	1	1
FAM83H	286077	broad.mit.edu	36	8	144883408	144883408	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144883408C>T	uc003yzk.1	-	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	hypothetical protein LOC286077	174					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.385542	181.866771	183.770602	64	102	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144883408	144883408	5866	8	C	T	T	23	23	FAM83H	T	1	1
FAM83H	286077	broad.mit.edu	36	8	144884730	144884730	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144884730C>T	uc003yzk.1	-	c.11G>A	c.(10-12)CGC>CAC	p.R4H	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	hypothetical protein LOC286077	4					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.481481	72.946226	72.962257	26	28	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144884730	144884730	5866	8	C	T	T	27	27	FAM83H	T	1	1
PUF60	22827	broad.mit.edu	36	8	144971206	144971206	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144971206C>T	uc003yzs.1	-	c.1242G>A	c.(1240-1242)GAG>GAA	p.E414E	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.1_Silent_p.E371E|PUF60_uc003yzr.1_Silent_p.E354E|PUF60_uc003yzt.1_Silent_p.E397E|PUF60_uc003yzu.1_Silent_p.E403E	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	414	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.227273	21.724055	24.73076	10	34	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		Silent	SNP	144971206	144971206	13282	8	C	T	T	28	28	PUF60	T	2	2
EPPK1	83481	broad.mit.edu	36	8	145012766	145012766	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145012766C>T	uc003zaa.1	-	c.6569G>A	c.(6568-6570)CGC>CAC	p.R2190H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2215						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.492163	424.81858	424.836359	157	162	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145012766	145012766	5383	8	C	T	T	27	27	EPPK1	T	1	1
EPPK1	83481	broad.mit.edu	36	8	145014071	145014071	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145014071C>A	uc003zaa.1	-	c.5264G>T	c.(5263-5265)AGA>ATA	p.R1755I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1780						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.414062	137.846804	138.672552	53	75	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145014071	145014071	5383	8	C	A	A	32	32	EPPK1	A	3	3
EPPK1	83481	broad.mit.edu	36	8	145016037	145016037	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145016037C>T	uc003zaa.1	-	c.3298G>A	c.(3298-3300)GAG>AAG	p.E1100K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1125						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.307692	18.596087	19.450219	8	18	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145016037	145016037	5383	8	C	T	T	31	31	EPPK1	T	1	1
EPPK1	83481	broad.mit.edu	36	8	145016371	145016371	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145016371G>A	uc003zaa.1	-	c.2964C>T	c.(2962-2964)GAC>GAT	p.D988D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1013	Plectin 19.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.1875	10.646565	13.56227	6	26	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Silent	SNP	145016371	145016371	5383	8	G	A	A	44	44	EPPK1	A	2	2
EPPK1	83481	broad.mit.edu	36	8	145017151	145017151	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145017151C>A	uc003zaa.1	-	c.2184G>T	c.(2182-2184)CTG>CTT	p.L728L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	753	Plectin 14.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.205479	84.451452	102.078484	45	174	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Silent	SNP	145017151	145017151	5383	8	C	A	A	29	29	EPPK1	A	3	3
PLEC	5339	broad.mit.edu	36	8	145063376	145063376	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145063376G>A	uc003zaf.1	-	c.13012C>T	c.(13012-13014)CGC>TGC	p.R4338C	PLEC_uc003zag.1_Missense_Mutation_p.R4179C|PLEC_uc003zah.1_Missense_Mutation_p.R4187C|PLEC_uc003zai.1_Missense_Mutation_p.R4228C|PLEC_uc003zaj.1_Missense_Mutation_p.R4228C|PLEC_uc003zab.1_Missense_Mutation_p.R4201C|PLEC_uc003zac.1_Missense_Mutation_p.R4205C|PLEC_uc003zad.1_Missense_Mutation_p.R4201C|PLEC_uc003zae.1_Missense_Mutation_p.R4169C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	4338	Globular 2.|Plectin 28.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.458015	163.939578	164.131762	60	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145063376	145063376	12478	8	G	A	A	38	38	PLEC	A	1	1
PLEC	5339	broad.mit.edu	36	8	145065552	145065552	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145065552G>A	uc003zaf.1	-	c.10836C>T	c.(10834-10836)ATC>ATT	p.I3612I	PLEC_uc003zag.1_Silent_p.I3453I|PLEC_uc003zah.1_Silent_p.I3461I|PLEC_uc003zai.1_Silent_p.I3502I|PLEC_uc003zaj.1_Silent_p.I3502I|PLEC_uc003zab.1_Silent_p.I3475I|PLEC_uc003zac.1_Silent_p.I3479I|PLEC_uc003zad.1_Silent_p.I3475I|PLEC_uc003zae.1_Silent_p.I3443I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	3612	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.474684	207.100393	207.1891	75	83	GG		KEEP	---	---	---	---	capture			Silent	SNP	145065552	145065552	12478	8	G	A	A	37	37	PLEC	A	1	1
PLEC	5339	broad.mit.edu	36	8	145065707	145065707	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145065707C>T	uc003zaf.1	-	c.10681G>A	c.(10681-10683)GAG>AAG	p.E3561K	PLEC_uc003zag.1_Missense_Mutation_p.E3402K|PLEC_uc003zah.1_Missense_Mutation_p.E3410K|PLEC_uc003zai.1_Missense_Mutation_p.E3451K|PLEC_uc003zaj.1_Missense_Mutation_p.E3451K|PLEC_uc003zab.1_Missense_Mutation_p.E3424K|PLEC_uc003zac.1_Missense_Mutation_p.E3428K|PLEC_uc003zad.1_Missense_Mutation_p.E3424K|PLEC_uc003zae.1_Missense_Mutation_p.E3392K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	3561	Plectin 14.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.246377	37.46847	41.491971	17	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145065707	145065707	12478	8	C	T	T	31	31	PLEC	T	1	1
PLEC	5339	broad.mit.edu	36	8	145067084	145067084	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145067084C>A	uc003zaf.1	-	c.9304G>T	c.(9304-9306)GAG>TAG	p.E3102*	PLEC_uc003zag.1_Nonsense_Mutation_p.E2943*|PLEC_uc003zah.1_Nonsense_Mutation_p.E2951*|PLEC_uc003zai.1_Nonsense_Mutation_p.E2992*|PLEC_uc003zaj.1_Nonsense_Mutation_p.E2992*|PLEC_uc003zab.1_Nonsense_Mutation_p.E2965*|PLEC_uc003zac.1_Nonsense_Mutation_p.E2969*|PLEC_uc003zad.1_Nonsense_Mutation_p.E2965*|PLEC_uc003zae.1_Nonsense_Mutation_p.E2933*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	3102	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.164835	22.664123	32.375106	15	76	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	145067084	145067084	12478	8	C	A	A	30	30	PLEC	A	5	3
PLEC	5339	broad.mit.edu	36	8	145067161	145067161	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145067161C>T	uc003zaf.1	-	c.9227G>A	c.(9226-9228)CGG>CAG	p.R3076Q	PLEC_uc003zag.1_Missense_Mutation_p.R2917Q|PLEC_uc003zah.1_Missense_Mutation_p.R2925Q|PLEC_uc003zai.1_Missense_Mutation_p.R2966Q|PLEC_uc003zaj.1_Missense_Mutation_p.R2966Q|PLEC_uc003zab.1_Missense_Mutation_p.R2939Q|PLEC_uc003zac.1_Missense_Mutation_p.R2943Q|PLEC_uc003zad.1_Missense_Mutation_p.R2939Q|PLEC_uc003zae.1_Missense_Mutation_p.R2907Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	3076	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.510345	228.558429	228.572309	74	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145067161	145067161	12478	8	C	T	T	23	23	PLEC	T	1	1
PLEC	5339	broad.mit.edu	36	8	145070307	145070307	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145070307C>A	uc003zaf.1	-	c.6189G>T	c.(6187-6189)GAG>GAT	p.E2063D	PLEC_uc003zag.1_Missense_Mutation_p.E1904D|PLEC_uc003zah.1_Missense_Mutation_p.E1912D|PLEC_uc003zai.1_Missense_Mutation_p.E1953D|PLEC_uc003zaj.1_Missense_Mutation_p.E1953D|PLEC_uc003zab.1_Missense_Mutation_p.E1926D|PLEC_uc003zac.1_Missense_Mutation_p.E1930D|PLEC_uc003zad.1_Missense_Mutation_p.E1926D|PLEC_uc003zae.1_Missense_Mutation_p.E1894D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	2063	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.541667	66.017318	66.087031	26	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145070307	145070307	12478	8	C	A	A	32	32	PLEC	A	3	3
PLEC	5339	broad.mit.edu	36	8	145078129	145078129	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145078129G>A	uc003zaf.1	-	c.2553C>T	c.(2551-2553)ATC>ATT	p.I851I	PLEC_uc003zag.1_Silent_p.I692I|PLEC_uc003zah.1_Silent_p.I700I|PLEC_uc003zai.1_Silent_p.I741I|PLEC_uc003zaj.1_Silent_p.I741I|PLEC_uc003zab.1_Silent_p.I714I|PLEC_uc003zac.1_Silent_p.I718I|PLEC_uc003zad.1_Silent_p.I714I|PLEC_uc003zae.1_Silent_p.I682I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	851	Spectrin 3.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.52	36.670767	36.679273	13	12	GG		KEEP	---	---	---	---	capture			Silent	SNP	145078129	145078129	12478	8	G	A	A	37	37	PLEC	A	1	1
PLEC	5339	broad.mit.edu	36	8	145082098	145082098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145082098G>A	uc003zaf.1	-	c.919C>T	c.(919-921)CGA>TGA	p.R307*	PLEC_uc003zag.1_Nonsense_Mutation_p.R148*|PLEC_uc003zah.1_Nonsense_Mutation_p.R156*|PLEC_uc003zai.1_Nonsense_Mutation_p.R197*|PLEC_uc003zaj.1_Nonsense_Mutation_p.R197*|PLEC_uc003zab.1_Nonsense_Mutation_p.R170*|PLEC_uc003zac.1_Nonsense_Mutation_p.R174*|PLEC_uc003zad.1_Nonsense_Mutation_p.R170*|PLEC_uc003zae.1_Nonsense_Mutation_p.R138*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	307	CH 2.|Globular 1.|Actin-binding.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.494845	133.132338	133.133784	48	49	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	145082098	145082098	12478	8	G	A	A	38	38	PLEC	A	5	1
SPATC1	375686	broad.mit.edu	36	8	145166945	145166945	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145166945C>T	uc003zaq.1	+	c.86C>T	c.(85-87)ACC>ATC	p.T29I		NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	120										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.209877	35.347145	41.645916	17	64	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145166945	145166945	15527	8	C	T	T	18	18	SPATC1	T	2	2
SPATC1	375686	broad.mit.edu	36	8	145167038	145167038	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145167038G>A	uc003zaq.1	+	c.179G>A	c.(178-180)GGC>GAC	p.G60D		NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	151										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.333333	35.023887	35.953483	13	26	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145167038	145167038	15527	8	G	A	A	42	42	SPATC1	A	2	2
EXOSC4	54512	broad.mit.edu	36	8	145207031	145207031	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145207031C>A	uc003zau.1	+	c.369C>A	c.(367-369)ATC>ATA	p.I123I	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.1_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	exosome component 4	123					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.454545	64.783505	64.879458	25	30	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Silent	SNP	145207031	145207031	5510	8	C	A	A	32	32	EXOSC4	A	3	3
GPAA1	8733	broad.mit.edu	36	8	145210865	145210865	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145210865G>A	uc003zax.1	+	c.550G>A	c.(550-552)GTA>ATA	p.V184I	GPAA1_uc003zav.1_Missense_Mutation_p.V62I|GPAA1_uc003zaw.1_Missense_Mutation_p.V124I	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	184	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.192308	80.005374	98.378971	40	168	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145210865	145210865	6861	8	G	A	A	44	44	GPAA1	A	2	2
GPAA1	8733	broad.mit.edu	36	8	145212938	145212938	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145212938C>T	uc003zax.1	+	c.1788C>T	c.(1786-1788)GGC>GGT	p.G596G		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	596	Cytoplasmic (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.225225	47.413918	55.121209	25	86	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Silent	SNP	145212938	145212938	6861	8	C	T	T	27	27	GPAA1	T	1	1
SHARPIN	81858	broad.mit.edu	36	8	145226307	145226307	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145226307G>A	uc003zba.1	-	c.783C>T	c.(781-783)CTC>CTT	p.L261L	SHARPIN_uc003zbb.1_Non-coding_Transcript	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	261	Ubiquitin-like.|Interaction with SHANK1 (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.222222	48.637109	56.312491	24	84	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Silent	SNP	145226307	145226307	14759	8	G	A	A	37	37	SHARPIN	A	1	1
SHARPIN	81858	broad.mit.edu	36	8	145230054	145230054	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145230054C>A	uc003zba.1	-	c.264G>T	c.(262-264)GAG>GAT	p.E88D	SHARPIN_uc003zbb.1_Non-coding_Transcript|MAF1_uc003zbc.1_5'Flank	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	88	Self-association (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.222222	92.50805	108.629109	50	175	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145230054	145230054	14759	8	C	A	A	28	28	SHARPIN	A	3	3
MAF1	84232	broad.mit.edu	36	8	145232771	145232771	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145232771A>G	uc003zbc.1	+	c.95A>G	c.(94-96)TAC>TGC	p.Y32C	SHARPIN_uc003zba.1_5'Flank|SHARPIN_uc003zbb.1_5'Flank|KIAA1875_uc003zbd.2_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	MAF1 protein	32					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulator activity				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.415873	431.985161	433.92528	131	184	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145232771	145232771	9533	8	A	G	G	14	14	MAF1	G	4	4
HEATR7A	727957	broad.mit.edu	36	8	145350044	145350044	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145350044G>A	uc003zbk.2	+	c.1261G>A	c.(1261-1263)GGC>AGC	p.G421S	HEATR7A_uc010mft.1_Missense_Mutation_p.G421S|HEATR7A_uc003zbj.1_Missense_Mutation_p.G421S	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	421	HEAT 4.						binding				0														0.307692	31.985004	33.27099	12	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145350044	145350044	7317	8	G	A	A	39	39	HEATR7A	A	1	1
ADCK5	203054	broad.mit.edu	36	8	145586882	145586882	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145586882G>A	uc003zch.1	+	c.361G>A	c.(361-363)GAG>AAG	p.E121K	ADCK5_uc003zcg.1_Non-coding_Transcript|ADCK5_uc003zci.1_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	121						integral to membrane	protein serine/threonine kinase 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)									90				0.353659	154.348143	157.423897	58	106	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		Missense_Mutation	SNP	145586882	145586882	292	8	G	A	A	41	41	ADCK5	A	2	2
CPSF1	29894	broad.mit.edu	36	8	145595808	145595808	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145595808G>A	uc003zcj.1	-	c.1220C>T	c.(1219-1221)GCT>GTT	p.A407V		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	407					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				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)					NSCLC(133;1088 1848 27708 34777 35269)								0.542857	53.039795	53.09865	19	16	GG		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	145595808	145595808	3962	8	G	A	A	34	34	CPSF1	A	2	2
VPS28	51160	broad.mit.edu	36	8	145620417	145620417	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145620417C>T	uc003zct.1	-	c.445G>A	c.(445-447)GCC>ACC	p.A149T	VPS28_uc003zcr.1_Missense_Mutation_p.A149T|VPS28_uc003zcs.1_Missense_Mutation_p.A149T	NM_183057	NP_898880	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 isoform 2	149	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.111111	6.903306	24.403598	13	104	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		Missense_Mutation	SNP	145620417	145620417	17766	8	C	T	T	27	27	VPS28	T	1	1
NFKBIL2	4796	broad.mit.edu	36	8	145637205	145637205	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145637205G>A	uc003zcu.2	-	c.486C>T	c.(484-486)TTC>TTT	p.F162F		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	321	TPR 7.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				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)													0.464	344.685489	344.965885	116	134	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		Silent	SNP	145637205	145637205	10782	8	G	A	A	33	33	NFKBIL2	A	2	2
NFKBIL2	4796	broad.mit.edu	36	8	145638899	145638899	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145638899C>T	uc003zcu.2	-	c.70G>A	c.(70-72)GAT>AAT	p.D24N		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	183	TPR 4.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				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)													0.422652	419.203569	421.093247	153	209	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		Missense_Mutation	SNP	145638899	145638899	10782	8	C	T	T	31	31	NFKBIL2	T	1	1
MFSD3	113655	broad.mit.edu	36	8	145706131	145706131	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145706131G>A	uc003zdi.1	+	c.607G>A	c.(607-609)GCG>ACG	p.A203T		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	203	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)											OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.318182	17.718245	18.36418	7	15	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		Missense_Mutation	SNP	145706131	145706131	9922	8	G	A	A	38	38	MFSD3	A	1	1
LRRC14	9684	broad.mit.edu	36	8	145716657	145716657	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145716657G>A	uc003zdk.1	+	c.557G>A	c.(556-558)CGA>CAA	p.R186Q	RECQL4_uc003zdj.1_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R186Q|LRRC14_uc003zdo.1_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	186											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.184834	67.923468	87.572835	39	172	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		Missense_Mutation	SNP	145716657	145716657	9342	8	G	A	A	37	37	LRRC14	A	1	1
LRRC24	441381	broad.mit.edu	36	8	145719168	145719168	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145719168G>A	uc003zdm.1	-	c.1041C>T	c.(1039-1041)GCC>GCT	p.A347A	LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC24_uc003zdn.1_Silent_p.A344A|LRRC14_uc003zdo.1_Non-coding_Transcript	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	347	Ig-like C2-type.					integral to membrane					0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.192308	19.221372	23.837133	10	42	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		Silent	SNP	145719168	145719168	9353	8	G	A	A	35	35	LRRC24	A	2	2
ZNF251	90987	broad.mit.edu	36	8	145918675	145918675	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145918675G>A	uc003zdv.2	-	c.1179C>T	c.(1177-1179)TTC>TTT	p.F393F		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	393	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.158055	86.810219	123.476884	52	277	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	Silent	SNP	145918675	145918675	18387	8	G	A	A	41	41	ZNF251	A	2	2
ZNF251	90987	broad.mit.edu	36	8	145919230	145919230	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145919230G>A	uc003zdv.2	-	c.624C>T	c.(622-624)GTC>GTT	p.V208V		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.451087	248.168269	248.555726	83	101	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	Silent	SNP	145919230	145919230	18387	8	G	A	A	33	33	ZNF251	A	2	2
ZNF34	80778	broad.mit.edu	36	8	145974242	145974242	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145974242T>G	uc003zdy.2	-	c.208A>C	c.(208-210)AAC>CAC	p.N70H	ZNF34_uc010mgb.1_Missense_Mutation_p.N7H|ZNF34_uc003zdx.2_Missense_Mutation_p.N49H	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)												0.232558	26.232243	29.045801	10	33	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)	Missense_Mutation	SNP	145974242	145974242	18448	8	T	G	G	62	62	ZNF34	G	4	4
ZNF7	7553	broad.mit.edu	36	8	146037556	146037556	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:146037556G>A	uc010mge.1	+	c.293G>A	c.(292-294)AGG>AAG	p.R98K	ZNF7_uc003zeg.2_Missense_Mutation_p.R87K|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.2_5'UTR|COMMD5_uc003zel.1_Non-coding_Transcript	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	87					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)												0.149144	113.389732	161.696499	61	348	GG		KEEP	---	---	---	---	capture	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	Missense_Mutation	SNP	146037556	146037556	18697	8	G	A	A	35	35	ZNF7	A	2	2
ZNF7	7553	broad.mit.edu	36	8	146037762	146037762	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:146037762G>A	uc010mge.1	+	c.499G>A	c.(499-501)GAG>AAG	p.E167K	ZNF7_uc003zeg.2_Missense_Mutation_p.E156K|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.2_Missense_Mutation_p.E60K|COMMD5_uc003zel.1_Non-coding_Transcript	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	156					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)												0.192201	140.872254	172.636397	69	290	GG		KEEP	---	---	---	---	capture	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	Missense_Mutation	SNP	146037762	146037762	18697	8	G	A	A	41	41	ZNF7	A	2	2
ZNF7	7553	broad.mit.edu	36	8	146038973	146038973	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:146038973G>T	uc010mge.1	+	c.1710G>T	c.(1708-1710)GGG>GGT	p.G570G	ZNF7_uc003zeg.2_Silent_p.G559G|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.2_Silent_p.G463G|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	559	C2H2-type 12.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)												0.209302	104.317439	124.499556	54	204	GG		KEEP	---	---	---	---	capture	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	Silent	SNP	146038973	146038973	18697	8	G	T	T	41	41	ZNF7	T	3	3
ZNF7	7553	broad.mit.edu	36	8	146039127	146039127	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:146039127G>A	uc010mge.1	+	c.1864G>A	c.(1864-1866)GAA>AAA	p.E622K	ZNF7_uc003zeg.2_Missense_Mutation_p.E611K|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.2_Missense_Mutation_p.E515K|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	611					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)												0.446237	224.231043	224.692337	83	103	GG		KEEP	---	---	---	---	capture	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	Missense_Mutation	SNP	146039127	146039127	18697	8	G	A	A	37	37	ZNF7	A	1	1
ZNF16	7564	broad.mit.edu	36	8	146127955	146127955	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:146127955C>A	uc003zet.1	-	c.1022G>T	c.(1021-1023)AGA>ATA	p.R341I	ZNF16_uc003zeu.1_Missense_Mutation_p.R341I	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	zinc finger protein 16	341	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)												0.2125	66.966075	79.190205	34	126	CC		KEEP	---	---	---	---	capture	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	Missense_Mutation	SNP	146127955	146127955	18329	8	C	A	A	32	32	ZNF16	A	3	3
DLGAP2	9228	broad.mit.edu	36	8	1484651	1484651	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:1484651A>G	uc003wpl.1	+	c.385A>G	c.(385-387)ACG>GCG	p.T129A	DLGAP2_uc003wpm.1_Missense_Mutation_p.T129A	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	208					nerve-nerve synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)												0.230769	7.731791	8.58588	3	10	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	Missense_Mutation	SNP	1484651	1484651	4740	8	A	G	G	6	6	DLGAP2	G	4	4
DLGAP2	9228	broad.mit.edu	36	8	1604203	1604203	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:1604203C>T	uc003wpl.1	+	c.1872C>T	c.(1870-1872)TCC>TCT	p.S624S	DLGAP2_uc003wpm.1_Silent_p.S624S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	703					nerve-nerve synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)												0.434783	25.44108	25.527206	10	13	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	Silent	SNP	1604203	1604203	4740	8	C	T	T	21	21	DLGAP2	T	2	2
MSR1	4481	broad.mit.edu	36	8	16070642	16070642	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:16070642C>A	uc010lsu.1	-	c.380G>T	c.(379-381)AGA>ATA	p.R127I	MSR1_uc003wwz.1_Missense_Mutation_p.R109I|MSR1_uc003wxa.1_Missense_Mutation_p.R109I|MSR1_uc003wxb.1_Missense_Mutation_p.R109I	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	109	Spacer (Probable).|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														0.191919	136.832592	171.98509	76	320	CC		KEEP	---	---	---	---	capture		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	Missense_Mutation	SNP	16070642	16070642	10279	8	C	A	A	32	32	MSR1	A	3	3
FGF20	26281	broad.mit.edu	36	8	16895100	16895100	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:16895100C>T	uc003wxc.1	-	c.488G>A	c.(487-489)CGC>CAC	p.R163H	FGF20_uc010lsv.1_Non-coding_Transcript|FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	163					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity				0										153				0.456973	427.431005	427.970162	154	183	CC		KEEP	---	---	---	---	capture		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	Missense_Mutation	SNP	16895100	16895100	6086	8	C	T	T	27	27	FGF20	T	1	1
ZDHHC2	51201	broad.mit.edu	36	8	17117121	17117121	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:17117121G>A	uc003wxe.1	+	c.955G>A	c.(955-957)GAA>AAA	p.E319K		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	319						integral to membrane	acyltransferase activity|zinc ion binding				0														0.16	6.483776	9.236473	4	21	GG		KEEP	---	---	---	---	capture		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	Missense_Mutation	SNP	17117121	17117121	18198	8	G	A	A	37	37	ZDHHC2	A	1	1
CLN8	2055	broad.mit.edu	36	8	1715875	1715875	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:1715875A>G	uc003wpo.2	+	c.596A>G	c.(595-597)CAC>CGC	p.H199R		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	199	TLC.				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)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)				Pancreas(155;338 1942 6138 10888 50612)								0.421053	208.054723	208.985915	72	99	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	Missense_Mutation	SNP	1715875	1715875	3684	8	A	G	G	6	6	CLN8	G	4	4
MTUS1	57509	broad.mit.edu	36	8	17657348	17657348	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:17657348T>C	uc003wxv.1	-	c.249A>G	c.(247-249)GAA>GAG	p.E83E	MTUS1_uc010lsy.1_Non-coding_Transcript|MTUS1_uc003wxw.1_Silent_p.E83E|MTUS1_uc010lsz.1_Silent_p.E83E	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	83						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2														0.189655	83.661785	99.356793	33	141	TT		KEEP	---	---	---	---	capture		Colorectal(111;0.0778)	Silent	SNP	17657348	17657348	10358	8	T	C	C	64	64	MTUS1	C	4	4
PCM1	5108	broad.mit.edu	36	8	17854870	17854870	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:17854870G>A	uc003wyi.2	+	c.1183G>A	c.(1183-1185)GAA>AAA	p.E395K	PCM1_uc003wyg.2_Missense_Mutation_p.E395K|PCM1_uc003wyh.2_Missense_Mutation_p.E434K|PCM1_uc010lta.1_Missense_Mutation_p.E434K|PCM1_uc003wyj.2_Missense_Mutation_p.E395K	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	395					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|ovary(2)|breast(1)	33									p.E395K(HCC1806-Tumor)	797				0.565217	39.078412	39.164102	13	10	GG		KEEP	---	---	---	---	capture		Colorectal(111;0.0789)	Missense_Mutation	SNP	17854870	17854870	12004	8	G	A	A	37	37	PCM1	A	1	1
PCM1	5108	broad.mit.edu	36	8	17871529	17871529	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:17871529G>A	uc003wyi.2	+	c.3576G>A	c.(3574-3576)GAG>GAA	p.E1192E	PCM1_uc003wyj.2_Silent_p.E1193E|PCM1_uc003wyk.2_5'Flank	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1192					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|ovary(2)|breast(1)	33										797				0.206349	83.607106	98.727308	39	150	GG		KEEP	---	---	---	---	capture		Colorectal(111;0.0789)	Silent	SNP	17871529	17871529	12004	8	G	A	A	33	33	PCM1	A	2	2
PCM1	5108	broad.mit.edu	36	8	17882466	17882466	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:17882466G>A	uc003wyi.2	+	c.4030G>A	c.(4030-4032)GCA>ACA	p.A1344T	PCM1_uc003wyj.2_Intron|PCM1_uc003wyk.2_Intron	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1344	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|ovary(2)|breast(1)	33										797				0.388889	212.518283	214.663514	77	121	GG		KEEP	---	---	---	---	capture		Colorectal(111;0.0789)	Missense_Mutation	SNP	17882466	17882466	12004	8	G	A	A	34	34	PCM1	A	2	2
PCM1	5108	broad.mit.edu	36	8	17895292	17895292	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:17895292C>T	uc003wyi.2	+	c.4711C>T	c.(4711-4713)CGT>TGT	p.R1571C	PCM1_uc003wyj.2_Missense_Mutation_p.R1517C|PCM1_uc003wyk.2_Missense_Mutation_p.R253C	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1571	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|ovary(2)|breast(1)	33										797				0.242424	18.383476	20.380176	8	25	CC		KEEP	---	---	---	---	capture		Colorectal(111;0.0789)	Missense_Mutation	SNP	17895292	17895292	12004	8	C	T	T	31	31	PCM1	T	1	1
ARHGEF10	9639	broad.mit.edu	36	8	1830027	1830027	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:1830027C>T	uc003wpr.1	+	c.1322C>T	c.(1321-1323)ACG>ATG	p.T441M	ARHGEF10_uc003wpq.1_Missense_Mutation_p.T466M|ARHGEF10_uc003wps.1_Missense_Mutation_p.T403M|ARHGEF10_uc003wpt.2_Missense_Mutation_p.T317M|ARHGEF10_uc003wpv.2_Missense_Mutation_p.T174M|ARHGEF10_uc010lre.1_Missense_Mutation_p.T121M	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	466	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)								2844				0.39604	103.870153	104.82722	40	61	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	Missense_Mutation	SNP	1830027	1830027	908	8	C	T	T	19	19	ARHGEF10	T	1	1
PSD3	23362	broad.mit.edu	36	8	18773836	18773836	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:18773836C>A	uc003wza.1	-	c.818G>T	c.(817-819)AGG>ATG	p.R273M		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	273					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3														0.453608	236.055022	236.420779	88	106	CC		KEEP	---	---	---	---	capture		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	Missense_Mutation	SNP	18773836	18773836	13101	8	C	A	A	24	24	PSD3	A	3	3
SH2D4A	63898	broad.mit.edu	36	8	19234747	19234747	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:19234747G>T	uc003wzb.1	+	c.183G>T	c.(181-183)GAG>GAT	p.E61D	SH2D4A_uc003wzc.1_Missense_Mutation_p.E61D	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	61						cytoplasm|nucleus	protein binding				0														0.321888	185.022952	191.598325	75	158	GG		KEEP	---	---	---	---	capture		Colorectal(111;0.0732)	Missense_Mutation	SNP	19234747	19234747	14726	8	G	T	T	33	33	SH2D4A	T	3	3
SH2D4A	63898	broad.mit.edu	36	8	19259063	19259063	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:19259063G>A	uc003wzb.1	+	c.583G>A	c.(583-585)GCA>ACA	p.A195T	SH2D4A_uc003wzc.1_Missense_Mutation_p.A195T	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	195						cytoplasm|nucleus	protein binding				0														0.413793	221.61853	222.945674	84	119	GG		KEEP	---	---	---	---	capture		Colorectal(111;0.0732)	Missense_Mutation	SNP	19259063	19259063	14726	8	G	A	A	46	46	SH2D4A	A	2	2
KBTBD11	9920	broad.mit.edu	36	8	1938103	1938103	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:1938103C>T	uc003wpw.2	+	c.1338C>T	c.(1336-1338)TTC>TTT	p.F446F	KBTBD11_uc010lrf.1_Silent_p.F446F	NM_014867	NP_055682	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	446	Kelch 3.									pancreas(1)	1		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)												0.4375	18.721018	18.775741	7	9	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)	Silent	SNP	1938103	1938103	8295	8	C	T	T	31	31	KBTBD11	T	1	1
INTS10	55174	broad.mit.edu	36	8	19720112	19720112	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:19720112C>T	uc003wzj.1	+	c.176C>T	c.(175-177)GCC>GTC	p.A59V		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	59					snRNA processing	integrator complex	protein binding			ovary(1)	1														0.147727	80.058899	122.018002	52	300	CC		KEEP	---	---	---	---	capture		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	Missense_Mutation	SNP	19720112	19720112	8077	8	C	T	T	26	26	INTS10	T	2	2
MYOM2	9172	broad.mit.edu	36	8	2004817	2004817	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:2004817G>A	uc003wpx.2	+	c.667G>A	c.(667-669)GAC>AAC	p.D223N		NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	223	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)	5		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)												0.219298	53.016559	61.290801	25	89	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	Missense_Mutation	SNP	2004817	2004817	10487	8	G	A	A	37	37	MYOM2	A	1	1
MYOM2	9172	broad.mit.edu	36	8	2005016	2005016	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:2005016G>A	uc003wpx.2	+	c.786G>A	c.(784-786)CCG>CCA	p.P262P		NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	262					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)	5		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)												0.219298	154.624977	179.47013	75	267	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	Silent	SNP	2005016	2005016	10487	8	G	A	A	37	37	MYOM2	A	1	1
ATP6V1B2	526	broad.mit.edu	36	8	20119098	20119098	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:20119098G>A	uc003wzp.1	+	c.1249G>A	c.(1249-1251)GAT>AAT	p.D417N	ATP6V1B2_uc003wzq.1_5'Flank	NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	417					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						Pancreas(119;1230 1726 3901 4036 31644)								0.422222	369.394385	371.062337	133	182	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Missense_Mutation	SNP	20119098	20119098	1198	8	G	A	A	37	37	ATP6V1B2	A	1	1
LZTS1	11178	broad.mit.edu	36	8	20152131	20152131	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:20152131G>T	uc003wzr.1	-	c.1173C>A	c.(1171-1173)ATC>ATA	p.I391I	LZTS1_uc010ltg.1_Silent_p.I391I	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	391					cell cycle|regulation of transcription, DNA-dependent|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.216216	58.304801	69.319103	32	116	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	Silent	SNP	20152131	20152131	9515	8	G	T	T	33	33	LZTS1	T	3	3
LZTS1	11178	broad.mit.edu	36	8	20154603	20154603	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:20154603G>A	uc003wzr.1	-	c.1119C>T	c.(1117-1119)TTC>TTT	p.F373F	LZTS1_uc010ltg.1_Silent_p.F373F	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	373	Potential.				cell cycle|regulation of transcription, DNA-dependent|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.6	195.26378	196.226654	66	44	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	Silent	SNP	20154603	20154603	9515	8	G	A	A	37	37	LZTS1	A	1	1
LZTS1	11178	broad.mit.edu	36	8	20154877	20154877	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:20154877C>T	uc003wzr.1	-	c.845G>A	c.(844-846)CGC>CAC	p.R282H	LZTS1_uc010ltg.1_Missense_Mutation_p.R282H	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	282	Potential.				cell cycle|regulation of transcription, DNA-dependent|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.288344	104.410652	110.93055	47	116	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	Missense_Mutation	SNP	20154877	20154877	9515	8	C	T	T	27	27	LZTS1	T	1	1
LZTS1	11178	broad.mit.edu	36	8	20156929	20156929	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:20156929C>T	uc003wzr.1	-	c.44G>A	c.(43-45)AGC>AAC	p.S15N	LZTS1_uc010ltg.1_Missense_Mutation_p.S15N	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	15					cell cycle|regulation of transcription, DNA-dependent|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.556522	200.604896	200.923794	64	51	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	Missense_Mutation	SNP	20156929	20156929	9515	8	C	T	T	28	28	LZTS1	T	2	2
MYOM2	9172	broad.mit.edu	36	8	2064523	2064523	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:2064523G>A	uc003wpx.2	+	c.3696G>A	c.(3694-3696)GGG>GGA	p.G1232G		NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1232					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)	5		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)												0.176991	37.725888	48.84103	20	93	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	Silent	SNP	2064523	2064523	10487	8	G	A	A	41	41	MYOM2	A	2	2
XPO7	23039	broad.mit.edu	36	8	21902534	21902534	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:21902534C>T	uc010lti.1	+	c.1889C>T	c.(1888-1890)TCC>TTC	p.S630F	XPO7_uc003xaa.2_Missense_Mutation_p.S621F|XPO7_uc010ltk.1_Missense_Mutation_p.S622F	NM_001100161	NP_001093631	Q9UIA9	XPO7_HUMAN	exportin 7 isoform a	621					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														0.454545	73.667218	73.766349	25	30	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	Missense_Mutation	SNP	21902534	21902534	18032	8	C	T	T	30	30	XPO7	T	2	2
XPO7	23039	broad.mit.edu	36	8	21912730	21912730	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:21912730C>T	uc010lti.1	+	c.2638C>T	c.(2638-2640)CTG>TTG	p.L880L	XPO7_uc003xaa.2_Silent_p.L871L|XPO7_uc010ltk.1_Silent_p.L872L	NM_001100161	NP_001093631	Q9UIA9	XPO7_HUMAN	exportin 7 isoform a	871					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														0.191291	260.613479	317.909391	123	520	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	Silent	SNP	21912730	21912730	18032	8	C	T	T	28	28	XPO7	T	2	2
HR	55806	broad.mit.edu	36	8	22040757	22040757	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22040757C>A	uc003xas.1	-	c.1143G>T	c.(1141-1143)AAG>AAT	p.K381N	HR_uc003xat.1_Missense_Mutation_p.K381N	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	381							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)												0.195789	165.760387	206.796693	93	382	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	Missense_Mutation	SNP	22040757	22040757	7639	8	C	A	A	32	32	HR	A	3	3
BMP1	649	broad.mit.edu	36	8	22087118	22087118	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22087118G>A	uc003xbg.1	+	c.207G>A	c.(205-207)CAG>CAA	p.Q69Q	BMP1_uc003xba.1_Silent_p.Q69Q|BMP1_uc003xbb.1_Silent_p.Q69Q|BMP1_uc003xbc.1_5'UTR|BMP1_uc003xbd.1_Non-coding_Transcript|BMP1_uc003xbf.1_5'UTR|BMP1_uc003xbe.1_Non-coding_Transcript|BMP1_uc003xbh.1_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	69					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3														0.461929	262.393589	262.643346	91	106	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	Silent	SNP	22087118	22087118	1481	8	G	A	A	34	34	BMP1	A	2	2
PHYHIP	9796	broad.mit.edu	36	8	22137731	22137731	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22137731G>T	uc003xbk.2	-	c.411C>A	c.(409-411)TTC>TTA	p.F137L	PHYHIP_uc003xbj.2_Missense_Mutation_p.F137L	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	137											0														0.162162	16.746587	24.788721	12	62	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	Missense_Mutation	SNP	22137731	22137731	12290	8	G	T	T	33	33	PHYHIP	T	3	3
PHYHIP	9796	broad.mit.edu	36	8	22137781	22137781	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22137781C>T	uc003xbk.2	-	c.361G>A	c.(361-363)GCT>ACT	p.A121T	PHYHIP_uc003xbj.2_Missense_Mutation_p.A121T	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	121											0														0.367816	84.472014	85.810167	32	55	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	Missense_Mutation	SNP	22137781	22137781	12290	8	C	T	T	26	26	PHYHIP	T	2	2
PHYHIP	9796	broad.mit.edu	36	8	22141681	22141681	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22141681C>T	uc003xbk.2	-	c.135G>A	c.(133-135)GAG>GAA	p.E45E	PHYHIP_uc003xbj.2_Silent_p.E45E	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	45	Fibronectin type-III.										0														0.231481	60.415586	67.551948	25	83	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	Silent	SNP	22141681	22141681	12290	8	C	T	T	32	32	PHYHIP	T	2	2
POLR3D	661	broad.mit.edu	36	8	22161448	22161448	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22161448G>A	uc003xbl.1	+	c.343G>A	c.(343-345)GAA>AAA	p.E115K	MIR320A_hsa-mir-320a|MI0000542_5'Flank|POLR3D_uc003xbm.1_Missense_Mutation_p.E115K	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	115					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0														0.471831	191.705277	191.803883	67	75	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	Missense_Mutation	SNP	22161448	22161448	12659	8	G	A	A	45	45	POLR3D	A	2	2
SORBS3	10174	broad.mit.edu	36	8	22468381	22468381	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22468381C>T	uc003xbv.1	+	c.163C>T	c.(163-165)CCC>TCC	p.P55S		NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	55					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)												0.214744	130.741283	154.202983	67	245	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	Missense_Mutation	SNP	22468381	22468381	15429	8	C	T	T	26	26	SORBS3	T	2	2
SORBS3	10174	broad.mit.edu	36	8	22470315	22470315	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22470315C>T	uc003xbv.1	+	c.363C>T	c.(361-363)TAC>TAT	p.Y121Y		NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	121	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)												0.479167	123.922663	123.959488	46	50	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	Silent	SNP	22470315	22470315	15429	8	C	T	T	19	19	SORBS3	T	1	1
SORBS3	10174	broad.mit.edu	36	8	22485241	22485241	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22485241G>A	uc003xbv.1	+	c.1809G>A	c.(1807-1809)GGG>GGA	p.G603G	SORBS3_uc003xbw.2_Silent_p.G261G	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	603					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)												0.387755	206.361194	208.521667	76	120	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	Silent	SNP	22485241	22485241	15429	8	G	A	A	41	41	SORBS3	A	2	2
C8orf58	541565	broad.mit.edu	36	8	22515660	22515660	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22515660G>A	uc003xce.1	+	c.769G>A	c.(769-771)GCA>ACA	p.A257T	C8orf58_uc003xcf.1_Missense_Mutation_p.A257T|C8orf58_uc003xcg.1_Missense_Mutation_p.A185T|KIAA1967_uc003xch.1_5'Flank|KIAA1967_uc003xci.1_5'Flank	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	257											0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)												0.235294	10.291495	11.380732	4	13	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	Missense_Mutation	SNP	22515660	22515660	2545	8	G	A	A	34	34	C8orf58	A	2	2
KIAA1967	57805	broad.mit.edu	36	8	22521520	22521520	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22521520G>A	uc003xch.1	+	c.581G>A	c.(580-582)CGA>CAA	p.R194Q	KIAA1967_uc003xci.1_Missense_Mutation_p.R194Q|KIAA1967_uc003xcj.1_5'UTR	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	194					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)	2		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)												0.248918	264.180454	290.686791	115	347	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	Missense_Mutation	SNP	22521520	22521520	8576	8	G	A	A	37	37	KIAA1967	A	1	1
KIAA1967	57805	broad.mit.edu	36	8	22528385	22528385	+	Silent	SNP	G	A	A	rs13250541	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22528385G>A	uc003xch.1	+	c.1131G>A	c.(1129-1131)CCG>CCA	p.P377P	KIAA1967_uc003xci.1_Silent_p.P377P|KIAA1967_uc003xcj.1_Silent_p.P46P	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	377					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)	2		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)												0.355263	65.182617	66.59411	27	49	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	Silent	SNP	22528385	22528385	8576	8	G	A	A	38	38	KIAA1967	A	1	1
KIAA1967	57805	broad.mit.edu	36	8	22529289	22529289	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22529289C>T	uc003xch.1	+	c.1527C>T	c.(1525-1527)GTC>GTT	p.V509V	KIAA1967_uc003xci.1_Silent_p.V509V|KIAA1967_uc003xcj.1_Silent_p.V178V	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	509					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)	2		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)												0.235577	99.948623	113.268849	49	159	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	Silent	SNP	22529289	22529289	8576	8	C	T	T	29	29	KIAA1967	T	2	2
EGR3	1960	broad.mit.edu	36	8	22604229	22604229	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22604229G>A	uc003xcm.1	-	c.866C>T	c.(865-867)TCG>TTG	p.S289L		NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	289	C2H2-type 1.				circadian rhythm|muscle organ development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)												0.48951	195.237886	195.251559	70	73	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	Missense_Mutation	SNP	22604229	22604229	5162	8	G	A	A	37	37	EGR3	A	1	1
EGR3	1960	broad.mit.edu	36	8	22604641	22604641	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22604641C>T	uc003xcm.1	-	c.454G>A	c.(454-456)GAC>AAC	p.D152N		NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	152					circadian rhythm|muscle organ development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)												0.531646	120.348608	120.417276	42	37	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	Missense_Mutation	SNP	22604641	22604641	5162	8	C	T	T	31	31	EGR3	T	1	1
RHOBTB2	23221	broad.mit.edu	36	8	22930741	22930741	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22930741G>A	uc003xcp.1	+	c.2064G>A	c.(2062-2064)TGG>TGA	p.W688*	RHOBTB2_uc003xcq.1_Nonsense_Mutation_p.W666*	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	666					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)												0.450704	174.380977	174.679862	64	78	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	Nonsense_Mutation	SNP	22930741	22930741	13809	8	G	A	A	42	42	RHOBTB2	A	5	2
TNFRSF10A	8797	broad.mit.edu	36	8	23125597	23125597	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:23125597G>T	uc003xda.1	-	c.380C>A	c.(379-381)CCT>CAT	p.P127H		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	127	TNFR-Cys 1.|Extracellular (Potential).				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors	integral to membrane	caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)	5		Prostate(55;0.0421)|Breast(100;0.14)												0.19598	75.902149	93.055598	39	160	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	Missense_Mutation	SNP	23125597	23125597	16821	8	G	T	T	35	35	TNFRSF10A	T	3	3
CHMP7	91782	broad.mit.edu	36	8	23174008	23174008	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:23174008G>T	uc003xdc.2	+	c.1313G>T	c.(1312-1314)AGC>ATC	p.S438I	CHMP7_uc003xdd.2_Missense_Mutation_p.S328I|CHMP7_uc003xde.2_Missense_Mutation_p.A276S	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	438					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)												0.407843	285.537605	287.432825	104	151	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	Missense_Mutation	SNP	23174008	23174008	3495	8	G	T	T	34	34	CHMP7	T	3	3
LOXL2	4017	broad.mit.edu	36	8	23254601	23254601	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:23254601G>A	uc003xdh.1	-	c.592C>T	c.(592-594)CGC>TGC	p.R198C		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	198	SRCR 2.				aging|cell adhesion|oxidation-reduction process|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)												0.434641	356.90724	358.049593	133	173	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	Missense_Mutation	SNP	23254601	23254601	9273	8	G	A	A	38	38	LOXL2	A	1	1
LOXL2	4017	broad.mit.edu	36	8	23281474	23281474	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:23281474G>A	uc003xdh.1	-	c.336C>T	c.(334-336)TCC>TCT	p.S112S		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	112	SRCR 1.				aging|cell adhesion|oxidation-reduction process|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)												0.185714	56.67506	69.630314	26	114	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	Silent	SNP	23281474	23281474	9273	8	G	A	A	35	35	LOXL2	A	2	2
LOXL2	4017	broad.mit.edu	36	8	23281748	23281748	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:23281748G>A	uc003xdh.1	-	c.62C>T	c.(61-63)CCC>CTC	p.P21L		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	21					aging|cell adhesion|oxidation-reduction process|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)												0.193878	83.744049	100.877218	38	158	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	Missense_Mutation	SNP	23281748	23281748	9273	8	G	A	A	43	43	LOXL2	A	2	2
SLC25A37	51312	broad.mit.edu	36	8	23479647	23479647	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:23479647G>A	uc003xdo.1	+	c.292G>A	c.(292-294)GAA>AAA	p.E98K	SLC25A37_uc003xdn.1_Missense_Mutation_p.E98K|SLC25A37_uc003xdp.1_Non-coding_Transcript|SLC25A37_uc010ltz.1_Non-coding_Transcript|SLC25A37_uc003xdq.1_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	98	Solcar 1.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)												0.436364	67.790335	67.984665	24	31	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	Missense_Mutation	SNP	23479647	23479647	14998	8	G	A	A	37	37	SLC25A37	A	1	1
SLC25A37	51312	broad.mit.edu	36	8	23485198	23485198	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:23485198G>T	uc003xdo.1	+	c.902G>T	c.(901-903)GGC>GTC	p.G301V	SLC25A37_uc003xdp.1_Non-coding_Transcript|SLC25A37_uc010ltz.1_Non-coding_Transcript|SLC25A37_uc003xdq.1_Non-coding_Transcript	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	301	Solcar 3.|Helical; Name=6; (Potential).				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)												0.350515	85.723421	87.634144	34	63	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	Missense_Mutation	SNP	23485198	23485198	14998	8	G	T	T	42	42	SLC25A37	T	3	3
ADAM28	10863	broad.mit.edu	36	8	24240033	24240033	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24240033G>A	uc003xdy.1	+	c.912G>A	c.(910-912)ACG>ACA	p.T304T	ADAM28_uc003xdx.1_Silent_p.T304T|ADAM28_uc010lua.1_5'UTR	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	304	Peptidase M12B.|Extracellular (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(2)|lung(1)|central_nervous_system(1)	4		Prostate(55;0.0959)				NSCLC(193;488 2149 22258 34798 40734)				410				0.44	527.552731	528.887137	187	238	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	Silent	SNP	24240033	24240033	247	8	G	A	A	37	37	ADAM28	A	1	1
ADAMDEC1	27299	broad.mit.edu	36	8	24313662	24313662	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24313662T>C	uc003xdz.1	+	c.1046T>C	c.(1045-1047)GTG>GCG	p.V349A		NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1	349	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding				0		Prostate(55;0.0181)				Ovarian(147;687 1849 3699 25981 31337)								0.446281	156.468505	156.79261	54	67	TT		KEEP	---	---	---	---	capture		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	Missense_Mutation	SNP	24313662	24313662	255	8	T	C	C	59	59	ADAMDEC1	C	4	4
ADAM7	8756	broad.mit.edu	36	8	24406495	24406495	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24406495C>A	uc003xeb.1	+	c.1705C>A	c.(1705-1707)CTC>ATC	p.L569I	ADAM7_uc003xec.2_Missense_Mutation_p.L341I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	569	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			kidney(1)	1		Prostate(55;0.0181)												0.22069	65.724243	76.139828	32	113	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	Missense_Mutation	SNP	24406495	24406495	252	8	C	A	A	32	32	ADAM7	A	3	3
NEFM	4741	broad.mit.edu	36	8	24827505	24827505	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24827505C>T	uc003xed.2	+	c.294C>T	c.(292-294)CGC>CGT	p.R98R	NEFM_uc010lud.1_Silent_p.R98R|NEFM_uc010lue.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	98	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)												0.5	94.020264	94.020264	31	31	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	Silent	SNP	24827505	24827505	10715	8	C	T	T	28	28	NEFM	T	2	2
NEFM	4741	broad.mit.edu	36	8	24831156	24831156	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24831156C>A	uc003xed.2	+	c.1883C>A	c.(1882-1884)TCT>TAT	p.S628Y	NEFM_uc010lud.1_Intron|NEFM_uc010lue.1_Missense_Mutation_p.S252Y	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	628	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|2.|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)												0.196078	70.661011	88.250714	40	164	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	Missense_Mutation	SNP	24831156	24831156	10715	8	C	A	A	32	32	NEFM	A	3	3
DOCK5	80005	broad.mit.edu	36	8	25247542	25247542	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25247542C>A	uc003xeg.1	+	c.2105C>A	c.(2104-2106)TCA>TAA	p.S702*	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xei.1_Nonsense_Mutation_p.S272*|DOCK5_uc003xej.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Nonsense_Mutation_p.S416*	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	702						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)				Pancreas(145;34 1887 3271 10937 30165)								0.157447	49.319624	75.691203	37	198	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	Nonsense_Mutation	SNP	25247542	25247542	4874	8	C	A	A	29	29	DOCK5	A	5	3
DOCK5	80005	broad.mit.edu	36	8	25254356	25254356	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25254356C>T	uc003xeg.1	+	c.2374C>T	c.(2374-2376)CGC>TGC	p.R792C	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xei.1_Missense_Mutation_p.R362C|DOCK5_uc003xej.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R506C	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	792						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)				Pancreas(145;34 1887 3271 10937 30165)								0.192308	19.117768	23.71861	10	42	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	Missense_Mutation	SNP	25254356	25254356	4874	8	C	T	T	31	31	DOCK5	T	1	1
GNRH1	2796	broad.mit.edu	36	8	25336765	25336765	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25336765C>A	uc003xem.2	-	c.0_splice	c.e2-1		PPP2R2A_uc003xek.1_Intron|GNRH1_uc003xen.2_5'UTR	NM_001083111	NP_001076580			gonadotropin-releasing hormone 1 precursor						cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)								18				0.145946	36.292618	58.605751	27	158	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)	Splice_Site_SNP	SNP	25336765	25336765	6816	8	C	A	A	32	32	GNRH1	A	5	3
KCTD9	54793	broad.mit.edu	36	8	25352792	25352792	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25352792C>T	uc003xeo.1	-	c.419G>A	c.(418-420)CGA>CAA	p.R140Q	PPP2R2A_uc003xek.1_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	140	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)												0.418301	177.571815	178.46295	64	89	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	Missense_Mutation	SNP	25352792	25352792	8422	8	C	T	T	31	31	KCTD9	T	1	1
EBF2	64641	broad.mit.edu	36	8	25774493	25774493	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25774493C>T	uc003xes.1	-	c.1331G>A	c.(1330-1332)GGA>GAA	p.G444E	PPP2R2A_uc003xek.1_Intron|EBF2_uc010lug.1_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity			ovary(3)	3		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)				Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)								0.445578	371.660411	372.422171	131	163	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	Missense_Mutation	SNP	25774493	25774493	5067	8	C	T	T	30	30	EBF2	T	2	2
PPP2R2A	5520	broad.mit.edu	36	8	26277217	26277217	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:26277217C>T	uc003xek.1	+	c.869C>T	c.(868-870)TCG>TTG	p.S290L	PPP2R2A_uc003xeu.1_Missense_Mutation_p.S289L	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	289	WD 5.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)								58				0.497738	319.231808	319.232837	110	111	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	Missense_Mutation	SNP	26277217	26277217	12820	8	C	T	T	31	31	PPP2R2A	T	1	1
DPYSL2	1808	broad.mit.edu	36	8	26497338	26497338	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:26497338C>T	uc003xfa.2	+	c.550C>T	c.(550-552)CCT>TCT	p.P184S	DPYSL2_uc010luk.1_Non-coding_Transcript|DPYSL2_uc003xfb.1_Missense_Mutation_p.P79S	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	79					axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)												0.483553	415.622708	415.692651	147	157	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	Missense_Mutation	SNP	26497338	26497338	4931	8	C	T	T	26	26	DPYSL2	T	2	2
STMN4	81551	broad.mit.edu	36	8	27155122	27155122	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27155122C>A	uc003xfj.1	-	c.179G>T	c.(178-180)AGA>ATA	p.R60I	STMN4_uc003xfk.1_Intron|STMN4_uc010luo.1_Intron	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	stathmin-like 4	36					intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)												0.154362	28.912794	45.954845	23	126	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Missense_Mutation	SNP	27155122	27155122	15831	8	C	A	A	32	32	STMN4	A	3	3
PTK2B	2185	broad.mit.edu	36	8	27335746	27335746	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27335746C>T	uc003xfn.1	+	c.480C>T	c.(478-480)AAC>AAT	p.N160N	PTK2B_uc003xfo.1_Silent_p.N160N|PTK2B_uc003xfp.1_Silent_p.N160N|PTK2B_uc003xfq.1_Silent_p.N160N	NM_173174	NP_775268	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	160	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			ovary(1)|skin(1)	2		Ovarian(32;2.72e-05)								347				0.27027	46.172613	49.693098	20	54	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Silent	SNP	27335746	27335746	13218	8	C	T	T	19	19	PTK2B	T	1	1
CHRNA2	1135	broad.mit.edu	36	8	27376899	27376899	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27376899C>T	uc010lur.1	-	c.978G>A	c.(976-978)CCG>CCA	p.P326P	CHRNA2_uc010lus.1_Silent_p.P128P	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	326						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)			Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)									0.18125	46.24304	61.481842	29	131	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Silent	SNP	27376899	27376899	3517	8	C	T	T	27	27	CHRNA2	T	1	1
CHRNA2	1135	broad.mit.edu	36	8	27377321	27377321	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27377321C>T	uc010lur.1	-	c.556G>A	c.(556-558)GAC>AAC	p.D186N	CHRNA2_uc010lus.1_Intron	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	186	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)			Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)									0.171103	75.71429	102.621393	45	218	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Missense_Mutation	SNP	27377321	27377321	3517	8	C	T	T	31	31	CHRNA2	T	1	1
EPHX2	2053	broad.mit.edu	36	8	27417135	27417135	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27417135C>T	uc003xfu.1	+	c.284C>T	c.(283-285)GCG>GTG	p.A95V	EPHX2_uc010lut.1_Missense_Mutation_p.A95V|EPHX2_uc010luu.1_Missense_Mutation_p.A95V|EPHX2_uc010luv.1_Missense_Mutation_p.A29V|EPHX2_uc003xfv.1_Missense_Mutation_p.A42V|EPHX2_uc010luw.1_Missense_Mutation_p.A29V	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	95	Phosphatase.				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)			Tamoxifen(DB00675)									0.22314	52.354174	60.892213	27	94	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Missense_Mutation	SNP	27417135	27417135	5373	8	C	T	T	27	27	EPHX2	T	1	1
EPHX2	2053	broad.mit.edu	36	8	27457235	27457235	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27457235C>A	uc003xfu.1	+	c.1502C>A	c.(1501-1503)CCT>CAT	p.P501H	EPHX2_uc010luu.1_Missense_Mutation_p.P469H|EPHX2_uc010luv.1_Missense_Mutation_p.P435H|EPHX2_uc003xfv.1_Missense_Mutation_p.P448H|EPHX2_uc010luw.1_Missense_Mutation_p.P435H	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	501	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)			Tamoxifen(DB00675)									0.43617	221.000231	221.67142	82	106	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Missense_Mutation	SNP	27457235	27457235	5373	8	C	A	A	24	24	EPHX2	A	3	3
CLU	1191	broad.mit.edu	36	8	27513399	27513399	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27513399G>A	uc003xfz.1	-	c.1135C>T	c.(1135-1137)CTC>TTC	p.L379F	CLU_uc010lux.1_Missense_Mutation_p.L192F|CLU_uc003xfw.1_Missense_Mutation_p.L327F|CLU_uc003xfx.1_Missense_Mutation_p.L327F|CLU_uc003xfy.1_Missense_Mutation_p.L338F	NM_001831	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 1	327					complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|release of cytochrome c from mitochondria|response to misfolded protein|response to virus|reverse cholesterol transport	mitochondrion|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding			ovary(2)	2		Ovarian(32;2.61e-05)												0.2	32.271964	39.688478	18	72	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	Missense_Mutation	SNP	27513399	27513399	3706	8	G	A	A	34	34	CLU	A	2	2
CLU	1191	broad.mit.edu	36	8	27519848	27519848	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27519848C>A	uc003xfz.1	-	c.513G>T	c.(511-513)CAG>CAT	p.Q171H	CLU_uc010lux.1_Intron|CLU_uc003xfw.1_Missense_Mutation_p.Q119H|CLU_uc003xfx.1_Missense_Mutation_p.Q119H|CLU_uc003xfy.1_Missense_Mutation_p.Q130H	NM_001831	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 1	119					complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|release of cytochrome c from mitochondria|response to misfolded protein|response to virus|reverse cholesterol transport	mitochondrion|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding			ovary(2)	2		Ovarian(32;2.61e-05)												0.44918	364.864563	365.559432	137	168	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	Missense_Mutation	SNP	27519848	27519848	3706	8	C	A	A	32	32	CLU	A	3	3
PBK	55872	broad.mit.edu	36	8	27723839	27723839	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27723839G>T	uc003xgi.1	-	c.871C>A	c.(871-873)CAG>AAG	p.Q291K	ESCO2_uc010luy.1_Intron	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	291	Protein kinase.				mitosis|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)								449				0.226087	110.964891	126.82599	52	178	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	Missense_Mutation	SNP	27723839	27723839	11908	8	G	T	T	47	47	PBK	T	3	3
C8orf80	389643	broad.mit.edu	36	8	27942779	27942779	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27942779C>A	uc003xgm.2	-	c.2077G>T	c.(2077-2079)GGA>TGA	p.G693*		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	hypothetical protein LOC389643	693						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)												0.191489	16.644717	20.828048	9	38	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	Nonsense_Mutation	SNP	27942779	27942779	2551	8	C	A	A	24	24	C8orf80	A	5	3
FZD3	7976	broad.mit.edu	36	8	28434216	28434216	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28434216C>T	uc003xgx.1	+	c.332C>T	c.(331-333)TCG>TTG	p.S111L	FZD3_uc010lvb.1_Missense_Mutation_p.S111L	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3	111	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)												0.407809	516.443156	519.855237	188	273	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	Missense_Mutation	SNP	28434216	28434216	6382	8	C	T	T	31	31	FZD3	T	1	1
FZD3	7976	broad.mit.edu	36	8	28441398	28441398	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28441398G>A	uc003xgx.1	+	c.1202G>A	c.(1201-1203)CGA>CAA	p.R401Q	FZD3_uc010lvb.1_Missense_Mutation_p.R401Q	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3	401	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)												0.209091	140.895514	166.753257	69	261	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	Missense_Mutation	SNP	28441398	28441398	6382	8	G	A	A	37	37	FZD3	A	1	1
FZD3	7976	broad.mit.edu	36	8	28441484	28441484	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28441484G>A	uc003xgx.1	+	c.1288G>A	c.(1288-1290)GTA>ATA	p.V430I	FZD3_uc010lvb.1_Missense_Mutation_p.V430I	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3	430	Helical; Name=6; (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.V430L(1)		ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)												0.44385	458.381199	459.410431	166	208	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	Missense_Mutation	SNP	28441484	28441484	6382	8	G	A	A	40	40	FZD3	A	1	1
EXTL3	2137	broad.mit.edu	36	8	28630334	28630334	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28630334G>A	uc003xgz.1	+	c.839G>A	c.(838-840)CGT>CAT	p.R280H		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Reg receptor	280	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding				0		Ovarian(32;0.069)												0.379032	122.694127	124.285877	47	77	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	Missense_Mutation	SNP	28630334	28630334	5521	8	G	A	A	40	40	EXTL3	A	1	1
EXTL3	2137	broad.mit.edu	36	8	28630929	28630929	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28630929G>T	uc003xgz.1	+	c.1434G>T	c.(1432-1434)TGG>TGT	p.W478C		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Reg receptor	478	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding				0		Ovarian(32;0.069)												0.213018	68.022101	80.879358	36	133	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	Missense_Mutation	SNP	28630929	28630929	5521	8	G	T	T	41	41	EXTL3	T	3	3
HMBOX1	79618	broad.mit.edu	36	8	28932198	28932198	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28932198G>A	uc003xhd.2	+	c.700G>A	c.(700-702)GCT>ACT	p.A234T	HMBOX1_uc010lvd.1_Missense_Mutation_p.A234T|HMBOX1_uc003xhc.2_Missense_Mutation_p.A234T|HMBOX1_uc010lve.1_Non-coding_Transcript|HMBOX1_uc003xhe.1_Missense_Mutation_p.A234T|HMBOX1_uc003xhf.1_Missense_Mutation_p.A222T|HMBOX1_uc003xhg.1_Missense_Mutation_p.A222T	NM_024567	NP_078843	Q6NT76	HMBX1_HUMAN	homeobox containing 1	234					negative regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			ovary(1)	1		Ovarian(32;0.0192)												0.227273	83.119508	95.130367	40	136	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	Missense_Mutation	SNP	28932198	28932198	7509	8	G	A	A	38	38	HMBOX1	A	1	1
HMBOX1	79618	broad.mit.edu	36	8	28964545	28964545	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28964545G>A	uc003xhd.2	+	c.1217G>A	c.(1216-1218)CGA>CAA	p.R406Q	HMBOX1_uc003xhc.2_Intron|HMBOX1_uc010lve.1_Non-coding_Transcript|HMBOX1_uc003xhe.1_Missense_Mutation_p.R406Q|HMBOX1_uc003xhf.1_Missense_Mutation_p.R392Q|HMBOX1_uc003xhg.1_3'UTR	NM_024567	NP_078843	Q6NT76	HMBX1_HUMAN	homeobox containing 1	406					negative regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			ovary(1)	1		Ovarian(32;0.0192)												0.463235	178.621339	178.77962	63	73	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	Missense_Mutation	SNP	28964545	28964545	7509	8	G	A	A	37	37	HMBOX1	A	1	1
KIF13B	23303	broad.mit.edu	36	8	29063820	29063820	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:29063820C>A	uc003xhh.2	-	c.1536_splice	c.e15-1	p.R512_splice	KIF13B_uc003xhj.2_Splice_Site_SNP_p.R409_splice|KIF13B_uc010lvf.1_Splice_Site_SNP_p.R448_splice	NM_015254	NP_056069			kinesin family member 13B						microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)												0.366667	28.213961	28.684059	11	19	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	Splice_Site_SNP	SNP	29063820	29063820	8586	8	C	A	A	32	32	KIF13B	A	5	3
KIF13B	23303	broad.mit.edu	36	8	29080937	29080937	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:29080937G>T	uc003xhh.2	-	c.1030C>A	c.(1030-1032)CTG>ATG	p.L344M	KIF13B_uc003xhj.2_Missense_Mutation_p.L241M|KIF13B_uc010lvf.1_Missense_Mutation_p.L280M	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	344					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)												0.218354	134.376326	157.513606	69	247	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	Missense_Mutation	SNP	29080937	29080937	8586	8	G	T	T	33	33	KIF13B	T	3	3
DUSP4	1846	broad.mit.edu	36	8	29251828	29251828	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:29251828G>A	uc003xhm.1	-	c.689C>T	c.(688-690)TCG>TTG	p.S230L	DUSP4_uc003xhl.1_Missense_Mutation_p.S139L	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	230	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity				0														0.569444	239.250679	239.854025	82	62	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	Missense_Mutation	SNP	29251828	29251828	5012	8	G	A	A	37	37	DUSP4	A	1	1
GSR	2936	broad.mit.edu	36	8	30656584	30656584	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:30656584G>A	uc003xih.1	-	c.1564C>T	c.(1564-1566)CGT>TGT	p.R522C		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase	522					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion|oxidation-reduction process	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5					Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)									0.25	59.704073	65.610863	26	78	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Missense_Mutation	SNP	30656584	30656584	7108	8	G	A	A	37	37	GSR	A	1	1
UBXN8	7993	broad.mit.edu	36	8	30728485	30728485	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:30728485G>A	uc003xii.1	+	c.119G>A	c.(118-120)CGG>CAG	p.R40Q	UBXN8_uc010lvi.1_Intron|UBXN8_uc003xij.1_Non-coding_Transcript	NM_005671	NP_005662	O00124	UBXN8_HUMAN	reproduction 8	40					single fertilization						0						Colon(169;855 1943 17895 39459 47884)								0.133333	7.519718	13.39228	6	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30728485	30728485	17477	8	G	A	A	39	39	UBXN8	A	1	1
PPP2CB	5516	broad.mit.edu	36	8	30774678	30774678	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:30774678G>T	uc003xik.1	-	c.447C>A	c.(445-447)CTC>CTA	p.L149L		NM_004156	NP_004147	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta	149					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding				0					Vitamin E(DB00163)									0.172414	54.579803	75.188516	35	168	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Silent	SNP	30774678	30774678	12817	8	G	T	T	33	33	PPP2CB	T	3	3
TEX15	56154	broad.mit.edu	36	8	30814854	30814854	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:30814854T>G	uc003xil.1	-	c.7339A>C	c.(7339-7341)ACA>CCA	p.T2447P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2447										ovary(3)	3														0.191939	250.218645	296.380606	100	421	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	Missense_Mutation	SNP	30814854	30814854	16306	8	T	G	G	60	60	TEX15	G	4	4
TEX15	56154	broad.mit.edu	36	8	30819993	30819993	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:30819993T>G	uc003xil.1	-	c.6083A>C	c.(6082-6084)AAT>ACT	p.N2028T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2028										ovary(3)	3														0.134146	21.474999	32.113358	11	71	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	Missense_Mutation	SNP	30819993	30819993	16306	8	T	G	G	52	52	TEX15	G	4	4
TEX15	56154	broad.mit.edu	36	8	30820673	30820673	+	Silent	SNP	G	A	A	rs61746109	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:30820673G>A	uc003xil.1	-	c.5403C>T	c.(5401-5403)TCC>TCT	p.S1801S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1801										ovary(3)	3														0.328358	124.646014	128.150699	44	90	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	Silent	SNP	30820673	30820673	16306	8	G	A	A	39	39	TEX15	A	1	1
TEX15	56154	broad.mit.edu	36	8	30823120	30823120	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:30823120A>G	uc003xil.1	-	c.2956T>C	c.(2956-2958)TCT>CCT	p.S986P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	986										ovary(3)	3														0.416667	601.314669	604.00097	185	259	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	Missense_Mutation	SNP	30823120	30823120	16306	8	A	G	G	12	12	TEX15	G	4	4
WRN	7486	broad.mit.edu	36	8	31131746	31131746	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:31131746A>C	uc003xio.2	+	c.3752A>C	c.(3751-3753)AAA>ACA	p.K1251T	WRN_uc010lvk.1_Missense_Mutation_p.K718T	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1251					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)	5		Breast(100;0.195)				Ovarian(18;161 598 2706 14834 27543)				832				0.430303	229.104052	229.802122	71	94	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	Missense_Mutation	SNP	31131746	31131746	17976	8	A	C	C	1	1	WRN	C	4	4
CSMD1	64478	broad.mit.edu	36	8	3129257	3129257	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:3129257G>A	uc010lrh.1	-	c.3972C>T	c.(3970-3972)TTC>TTT	p.F1324F	CSMD1_uc003wqc.2_Silent_p.F789F|CSMD1_uc003wqe.2_Silent_p.F480F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1324	Extracellular (Potential).|CUB 8.					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)										OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.236111	36.035001	40.623176	17	55	GG		KEEP	---	---	---	---	capture		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)	Silent	SNP	3129257	3129257	4085	8	G	A	A	37	37	CSMD1	A	1	1
CSMD1	64478	broad.mit.edu	36	8	3192932	3192932	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:3192932C>T	uc010lrh.1	-	c.3466G>A	c.(3466-3468)GAT>AAT	p.D1156N	CSMD1_uc003wqc.2_Missense_Mutation_p.D621N|CSMD1_uc003wqe.2_Missense_Mutation_p.D312N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1156	Extracellular (Potential).|CUB 7.					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)												0.576923	45.226057	45.359826	15	11	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	3192932	3192932	4085	8	C	T	T	32	32	CSMD1	T	2	2
NRG1	3084	broad.mit.edu	36	8	32733494	32733494	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:32733494C>T	uc003xiu.1	+	c.850C>T	c.(850-852)CGG>TGG	p.R284W	NRG1_uc010lvo.1_Missense_Mutation_p.R276W|NRG1_uc003xiw.1_Missense_Mutation_p.R276W|NRG1_uc003xit.1_Missense_Mutation_p.R279W|NRG1_uc003xiv.1_Missense_Mutation_p.R279W|NRG1_uc010lvp.1_Missense_Mutation_p.R226W|NRG1_uc010lvq.1_Missense_Mutation_p.R209W|NRG1_uc010lvr.1_Missense_Mutation_p.R21W|NRG1_uc010lvs.1_Missense_Mutation_p.R21W|NRG1_uc003xja.1_Missense_Mutation_p.R90W	NM_013956	NP_039250	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-beta1	279	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)												0.262069	174.866963	189.724971	76	214	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	Missense_Mutation	SNP	32733494	32733494	11052	8	C	T	T	31	31	NRG1	T	1	1
NRG1	3084	broad.mit.edu	36	8	32741056	32741056	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:32741056C>T	uc003xiu.1	+	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	NRG1_uc003xiw.1_Missense_Mutation_p.A503V|NRG1_uc003xit.1_3'UTR|NRG1_uc003xiv.1_Missense_Mutation_p.A506V|NRG1_uc010lvp.1_Missense_Mutation_p.A453V|NRG1_uc010lvq.1_Missense_Mutation_p.A436V|NRG1_uc010lvr.1_Missense_Mutation_p.A248V|NRG1_uc010lvs.1_Missense_Mutation_p.A248V|NRG1_uc003xja.1_Missense_Mutation_p.A317V	NM_013956	NP_039250	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-beta1	506	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)												0.150943	21.632616	34.011461	16	90	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	Missense_Mutation	SNP	32741056	32741056	11052	8	C	T	T	27	27	NRG1	T	1	1
NRG1	3084	broad.mit.edu	36	8	32741219	32741219	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:32741219G>T	uc003xiu.1	+	c.1695G>T	c.(1693-1695)TTG>TTT	p.L565F	NRG1_uc003xiw.1_Missense_Mutation_p.L557F|NRG1_uc003xit.1_3'UTR|NRG1_uc003xiv.1_Missense_Mutation_p.L560F|NRG1_uc010lvp.1_Missense_Mutation_p.L507F|NRG1_uc010lvq.1_Missense_Mutation_p.L490F|NRG1_uc010lvr.1_Missense_Mutation_p.L302F|NRG1_uc010lvs.1_Missense_Mutation_p.L302F|NRG1_uc003xja.1_Missense_Mutation_p.L371F	NM_013956	NP_039250	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-beta1	560	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)												0.154639	22.86038	33.921418	15	82	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	Missense_Mutation	SNP	32741219	32741219	11052	8	G	T	T	47	47	NRG1	T	3	3
C8orf41	80185	broad.mit.edu	36	8	33480859	33480859	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:33480859C>T	uc003xjl.2	-	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H	C8orf41_uc003xjk.2_Missense_Mutation_p.R324H|C8orf41_uc010lvv.1_Intron|C8orf41_uc003xjm.2_Missense_Mutation_p.R355H|C8orf41_uc003xjn.1_Missense_Mutation_p.R355H	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	355							binding				0														0.507463	94.340804	94.343911	34	33	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)	Missense_Mutation	SNP	33480859	33480859	2537	8	C	T	T	27	27	C8orf41	T	1	1
C8orf41	80185	broad.mit.edu	36	8	33489617	33489617	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:33489617C>A	uc003xjl.2	-	c.57G>T	c.(55-57)GAG>GAT	p.E19D	C8orf41_uc003xjk.2_Missense_Mutation_p.E19D|C8orf41_uc010lvv.1_Missense_Mutation_p.E19D|C8orf41_uc003xjm.2_Missense_Mutation_p.E19D|C8orf41_uc003xjn.1_Missense_Mutation_p.E19D	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	19							binding				0														0.412556	246.529989	248.025754	92	131	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)	Missense_Mutation	SNP	33489617	33489617	2537	8	C	A	A	24	24	C8orf41	A	3	3
UNC5D	137970	broad.mit.edu	36	8	35725663	35725663	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:35725663C>T	uc003xjr.1	+	c.1843C>T	c.(1843-1845)CCC>TCC	p.P615S	UNC5D_uc003xjs.1_Missense_Mutation_p.P610S|UNC5D_uc003xju.1_Missense_Mutation_p.P191S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D	615	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			ovary(2)|pancreas(1)	3														0.210356	137.746584	161.708131	65	244	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	Missense_Mutation	SNP	35725663	35725663	17553	8	C	T	T	30	30	UNC5D	T	2	2
KCNU1	157855	broad.mit.edu	36	8	36822572	36822572	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:36822572A>G	uc010lvw.1	+	c.1888A>G	c.(1888-1890)ACA>GCA	p.T630A	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	630	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.181818	9.588599	11.679253	4	18	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	Missense_Mutation	SNP	36822572	36822572	8398	8	A	G	G	6	6	KCNU1	G	4	4
RAB11FIP1	80223	broad.mit.edu	36	8	37848402	37848402	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:37848402C>A	uc003xkm.1	-	c.3076G>T	c.(3076-3078)GGC>TGC	p.G1026C	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.G355C|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xko.1_Missense_Mutation_p.G355C|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	1026					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)	1		Lung NSC(58;0.118)|all_lung(54;0.195)												0.198675	52.571659	65.33987	30	121	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		Missense_Mutation	SNP	37848402	37848402	13352	8	C	A	A	22	22	RAB11FIP1	A	3	3
RAB11FIP1	80223	broad.mit.edu	36	8	37853998	37853998	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:37853998C>T	uc003xkm.1	-	c.601G>A	c.(601-603)GAC>AAC	p.D201N	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.D49N|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.D201N|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.D49N	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	201					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)	1		Lung NSC(58;0.118)|all_lung(54;0.195)												0.397196	461.031941	464.996719	170	258	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		Missense_Mutation	SNP	37853998	37853998	13352	8	C	T	T	31	31	RAB11FIP1	T	1	1
STAR	6770	broad.mit.edu	36	8	38124943	38124943	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38124943C>T	uc003xkv.1	-	c.238G>A	c.(238-240)GAG>AAG	p.E80K	STAR_uc010lwb.1_Missense_Mutation_p.E80K|STAR_uc010lwc.1_Missense_Mutation_p.E42K	NM_000349	NP_000340	P49675	STAR_HUMAN	steroidogenic acute regulatory protein isoform	80	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)								134				0.164835	22.339784	32.096507	15	76	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(644;0.188)	Missense_Mutation	SNP	38124943	38124943	15773	8	C	T	T	30	30	STAR	T	2	2
BAG4	9530	broad.mit.edu	36	8	38169406	38169406	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38169406C>T	uc003xky.1	+	c.314C>T	c.(313-315)TCT>TTT	p.S105F	BAG4_uc003xkz.1_Intron	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	105					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)								66				0.454545	241.671008	241.988862	80	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38169406	38169406	1310	8	C	T	T	32	32	BAG4	T	2	2
WHSC1L1	54904	broad.mit.edu	36	8	38265269	38265269	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38265269C>A	uc003xli.1	-	c.3394G>T	c.(3394-3396)GAT>TAT	p.D1132Y	WHSC1L1_uc010lwe.1_Missense_Mutation_p.D1083Y	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1132	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|zinc ion binding				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)								521				0.457286	241.374471	241.693499	91	108	CC		KEEP	---	---	---	---	capture	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		Missense_Mutation	SNP	38265269	38265269	17937	8	C	A	A	32	32	WHSC1L1	A	3	3
WHSC1L1	54904	broad.mit.edu	36	8	38265373	38265373	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38265373C>T	uc003xli.1	-	c.3290G>A	c.(3289-3291)CGC>CAC	p.R1097H	WHSC1L1_uc010lwe.1_Missense_Mutation_p.R1048H	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1097	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|zinc ion binding				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)								521				0.479769	228.005457	228.066677	83	90	CC		KEEP	---	---	---	---	capture	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		Missense_Mutation	SNP	38265373	38265373	17937	8	C	T	T	27	27	WHSC1L1	T	1	1
WHSC1L1	54904	broad.mit.edu	36	8	38281948	38281948	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38281948C>A	uc003xli.1	-	c.2415G>T	c.(2413-2415)GAG>GAT	p.E805D	WHSC1L1_uc010lwe.1_Missense_Mutation_p.E805D	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	805	PHD-type 2.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|zinc ion binding				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)								521				0.184615	61.465505	79.680368	36	159	CC		KEEP	---	---	---	---	capture	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		Missense_Mutation	SNP	38281948	38281948	17937	8	C	A	A	32	32	WHSC1L1	A	3	3
WHSC1L1	54904	broad.mit.edu	36	8	38306260	38306260	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38306260C>T	uc003xli.1	-	c.1374G>A	c.(1372-1374)GCG>GCA	p.A458A	WHSC1L1_uc010lwe.1_Silent_p.A458A|WHSC1L1_uc003xlj.1_Silent_p.A458A	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	458					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|zinc ion binding				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)								521				0.182243	72.903675	93.200487	39	175	CC		KEEP	---	---	---	---	capture	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		Silent	SNP	38306260	38306260	17937	8	C	T	T	23	23	WHSC1L1	T	1	1
FGFR1	2260	broad.mit.edu	36	8	38391463	38391463	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38391463C>A	uc010lwg.1	-	c.1968G>T	c.(1966-1968)AAG>AAT	p.K656N	FGFR1_uc010lwh.1_Missense_Mutation_p.K654N|FGFR1_uc010lwi.1_Missense_Mutation_p.K565N|FGFR1_uc010lwj.1_Missense_Mutation_p.K567N|FGFR1_uc010lwk.1_Missense_Mutation_p.K646N|FGFR1_uc003xlp.1_Missense_Mutation_p.K654N|FGFR1_uc010lwf.1_Non-coding_Transcript	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	656	Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|protein phosphorylation|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)|ovary(1)|breast(1)	12	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)			Palifermin(DB00039)	Melanoma(146;1153 1840 21453 21841 43625)		1		244				0.205323	96.330486	117.615451	54	209	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	38391463	38391463	6100	8	C	A	A	32	32	FGFR1	A	3	3
TACC1	6867	broad.mit.edu	36	8	38796318	38796318	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38796318G>T	uc010lwp.1	+	c.399G>T	c.(397-399)AAG>AAT	p.K133N	TACC1_uc003xlz.1_5'UTR|TACC1_uc003xma.1_Intron|TACC1_uc003xmb.2_Missense_Mutation_p.K88N|TACC1_uc003xmc.2_5'UTR|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.2_Intron|TACC1_uc003xmh.2_5'UTR|TACC1_uc010lwq.1_5'UTR	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	133					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)												0.47619	247.617003	247.711364	90	99	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		Missense_Mutation	SNP	38796318	38796318	16022	8	G	T	T	33	33	TACC1	T	3	3
PLEKHA2	59339	broad.mit.edu	36	8	38927623	38927623	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38927623G>A	uc003xmi.2	+	c.444G>A	c.(442-444)ACG>ACA	p.T148T		NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	148					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)												0.217949	37.533531	43.253889	17	61	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		Silent	SNP	38927623	38927623	12482	8	G	A	A	39	39	PLEKHA2	A	1	1
HTRA4	203100	broad.mit.edu	36	8	38959695	38959695	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38959695T>C	uc003xmj.1	+	c.1239T>C	c.(1237-1239)TGT>TGC	p.C413C		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	413	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)												0.190083	58.585534	69.426921	23	98	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		Silent	SNP	38959695	38959695	7756	8	T	C	C	57	57	HTRA4	C	4	4
ADAM9	8754	broad.mit.edu	36	8	39080301	39080301	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:39080301G>A	uc003xmr.1	+	c.2385G>A	c.(2383-2385)CCG>CCA	p.P795P	ADAM9_uc003xmq.1_3'UTR|ADAM9_uc010lwr.1_Non-coding_Transcript|ADAM9_uc003xms.1_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	795	Poly-Pro.|Cytoplasmic (Potential).			Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|integrin-mediated signaling pathway|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway|visual perception	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)												0.207048	94.432965	112.474375	47	180	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		Silent	SNP	39080301	39080301	254	8	G	A	A	37	37	ADAM9	A	1	1
ADAM32	203102	broad.mit.edu	36	8	39198317	39198317	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:39198317G>A	uc003xmt.2	+	c.1265G>A	c.(1264-1266)CGA>CAA	p.R422Q	ADAM32_uc003xmu.2_Missense_Mutation_p.R316Q|ADAM32_uc003xmv.1_5'UTR	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	422	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)							p.R422Q(ALEXANDERCELLS-Tumor)	1163				0.46875	87.142517	87.197065	30	34	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		Missense_Mutation	SNP	39198317	39198317	250	8	G	A	A	37	37	ADAM32	A	1	1
ADAM2	2515	broad.mit.edu	36	8	39726052	39726052	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:39726052T>C	uc003xnj.1	-	c.1950A>G	c.(1948-1950)CTA>CTG	p.L650L	ADAM2_uc003xnk.1_Silent_p.L631L|ADAM2_uc003xnl.1_Silent_p.L494L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	650	Extracellular (Potential).				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)												0.220472	141.19159	159.444189	56	198	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	Silent	SNP	39726052	39726052	242	8	T	C	C	49	49	ADAM2	C	4	4
IDO2	169355	broad.mit.edu	36	8	39990387	39990387	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:39990387G>A	uc010lwy.1	+	c.905G>A	c.(904-906)AGT>AAT	p.S302N	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.S43N|IDO2_uc003xnp.1_Missense_Mutation_p.S43N	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	289					oxidation-reduction process|tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2														0.26087	42.114927	45.689246	18	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39990387	39990387	7802	8	G	A	A	36	36	IDO2	A	2	2
ZMAT4	79698	broad.mit.edu	36	8	40651487	40651487	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:40651487G>A	uc003xnr.1	-	c.470C>T	c.(469-471)CCT>CTT	p.P157L	ZMAT4_uc003xns.1_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	157	Matrin-type 3.					nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)												0.204152	277.904652	324.869283	118	460	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(45;0.00722)		Missense_Mutation	SNP	40651487	40651487	18285	8	G	A	A	35	35	ZMAT4	A	2	2
AGPAT6	137964	broad.mit.edu	36	8	41586431	41586431	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:41586431C>A	uc003xnz.1	+	c.336C>A	c.(334-336)CTC>CTA	p.L112L		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	112					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)												0.230769	133.781809	152.802138	66	220	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		Silent	SNP	41586431	41586431	394	8	C	A	A	32	32	AGPAT6	A	3	3
ANK1	286	broad.mit.edu	36	8	41678782	41678782	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:41678782C>A	uc003xom.1	-	c.2432G>T	c.(2431-2433)GGC>GTC	p.G811V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.1_Missense_Mutation_p.G86V|ANK1_uc003xoi.1_Missense_Mutation_p.G778V|ANK1_uc003xoj.1_Missense_Mutation_p.G778V|ANK1_uc003xok.1_Missense_Mutation_p.G778V|ANK1_uc003xol.1_Missense_Mutation_p.G778V	NM_020475	NP_065208	P16157	ANK1_HUMAN	ankyrin 1 isoform 4	778	89 kDa domain.|ANK 23.				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)|lung(2)|central_nervous_system(2)|breast(1)	8	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)										OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.186992	41.399842	52.656364	23	100	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	41678782	41678782	623	8	C	A	A	26	26	ANK1	A	3	3
ANK1	286	broad.mit.edu	36	8	41682830	41682830	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:41682830G>A	uc003xom.1	-	c.2184C>T	c.(2182-2184)GAC>GAT	p.D728D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.1_Silent_p.D3D|ANK1_uc003xoi.1_Silent_p.D695D|ANK1_uc003xoj.1_Silent_p.D695D|ANK1_uc003xok.1_Silent_p.D695D|ANK1_uc003xol.1_Silent_p.D695D	NM_020475	NP_065208	P16157	ANK1_HUMAN	ankyrin 1 isoform 4	695	ANK 20.|89 kDa 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)|lung(2)|central_nervous_system(2)|breast(1)	8	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)												0.335714	110.268019	113.617831	47	93	GG		KEEP	---	---	---	---	capture	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)		Silent	SNP	41682830	41682830	623	8	G	A	A	40	40	ANK1	A	1	1
ANK1	286	broad.mit.edu	36	8	41685627	41685627	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:41685627G>A	uc003xom.1	-	c.1923C>T	c.(1921-1923)ATC>ATT	p.I641I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.1_5'Flank|ANK1_uc003xoi.1_Silent_p.I608I|ANK1_uc003xoj.1_Silent_p.I608I|ANK1_uc003xok.1_Silent_p.I608I|ANK1_uc003xol.1_Silent_p.I608I	NM_020475	NP_065208	P16157	ANK1_HUMAN	ankyrin 1 isoform 4	608	ANK 18.|89 kDa 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)|lung(2)|central_nervous_system(2)|breast(1)	8	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)												0.21374	53.036091	62.954685	28	103	GG		KEEP	---	---	---	---	capture	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)		Silent	SNP	41685627	41685627	623	8	G	A	A	37	37	ANK1	A	1	1
ANK1	286	broad.mit.edu	36	8	41696458	41696458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:41696458C>T	uc003xom.1	-	c.1084G>A	c.(1084-1086)GCA>ACA	p.A362T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.1_Missense_Mutation_p.A329T|ANK1_uc003xoj.1_Missense_Mutation_p.A329T|ANK1_uc003xok.1_Missense_Mutation_p.A329T|ANK1_uc003xol.1_Missense_Mutation_p.A329T	NM_020475	NP_065208	P16157	ANK1_HUMAN	ankyrin 1 isoform 4	329	ANK 9.|89 kDa 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)|lung(2)|central_nervous_system(2)|breast(1)	8	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)												0.191489	131.711411	165.146307	72	304	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	41696458	41696458	623	8	C	T	T	27	27	ANK1	T	1	1
ANK1	286	broad.mit.edu	36	8	41873108	41873108	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:41873108C>T	uc003xom.1	-	c.48G>A	c.(46-48)GCG>GCA	p.A16A		NM_020475	NP_065208	P16157	ANK1_HUMAN	ankyrin 1 isoform 4	Error:Variant_position_missing_in_P16157_after_alignment					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)|lung(2)|central_nervous_system(2)|breast(1)	8	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)												0.418605	48.342043	48.590548	18	25	CC		KEEP	---	---	---	---	capture	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)		Silent	SNP	41873108	41873108	623	8	C	T	T	27	27	ANK1	T	1	1
MYST3	7994	broad.mit.edu	36	8	41910673	41910673	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:41910673C>T	uc010lxb.1	-	c.4222G>A	c.(4222-4224)GAA>AAA	p.E1408K	MYST3_uc010lxc.1_Missense_Mutation_p.E1408K|MYST3_uc003xon.2_Missense_Mutation_p.E1408K	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1408					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription activator activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)								476				0.385892	251.706668	254.460438	93	148	CC		KEEP	---	---	---	---	capture	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		Missense_Mutation	SNP	41910673	41910673	10499	8	C	T	T	31	31	MYST3	T	1	1
IKBKB	3551	broad.mit.edu	36	8	42281886	42281886	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:42281886A>C	uc003xow.1	+	c.413A>C	c.(412-414)GAA>GCA	p.E138A	IKBKB_uc003xov.2_Missense_Mutation_p.E138A|IKBKB_uc010lxh.1_Missense_Mutation_p.E33A|IKBKB_uc003xox.1_5'UTR|IKBKB_uc010lxi.1_Non-coding_Transcript|IKBKB_uc010lxj.1_Intron	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene	138	Protein kinase.				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|protein phosphorylation|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|transcription activator 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)			Arsenic trioxide(DB01169)|Auranofin(DB00995)					402				0.471698	172.149519	172.222842	50	56	AA		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	42281886	42281886	7912	8	A	C	C	9	9	IKBKB	C	4	4
IKBKB	3551	broad.mit.edu	36	8	42299131	42299131	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:42299131C>T	uc003xow.1	+	c.1948C>T	c.(1948-1950)CGG>TGG	p.R650W	IKBKB_uc003xox.1_Missense_Mutation_p.R371W|IKBKB_uc010lxi.1_Non-coding_Transcript|IKBKB_uc010lxj.1_Missense_Mutation_p.R427W	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene	650					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|protein phosphorylation|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|transcription activator 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)			Arsenic trioxide(DB01169)|Auranofin(DB00995)					402				0.150888	73.141323	112.594198	51	287	CC		KEEP	---	---	---	---	capture	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)		Missense_Mutation	SNP	42299131	42299131	7912	8	C	T	T	27	27	IKBKB	T	1	1
SLC20A2	6575	broad.mit.edu	36	8	42414188	42414188	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:42414188G>A	uc010lxl.1	-	c.999C>T	c.(997-999)TTC>TTT	p.F333F	SLC20A2_uc010lxm.1_Silent_p.F333F|SLC20A2_uc003xpe.1_Silent_p.F333F	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	333	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)												0.233129	81.054425	91.700569	38	125	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Silent	SNP	42414188	42414188	14935	8	G	A	A	37	37	SLC20A2	A	1	1
SLC20A2	6575	broad.mit.edu	36	8	42421379	42421379	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:42421379G>A	uc010lxl.1	-	c.672C>T	c.(670-672)CTC>CTT	p.L224L	SLC20A2_uc010lxm.1_Silent_p.L224L|SLC20A2_uc003xpe.1_Silent_p.L224L	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	224	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)												0.514286	266.853963	266.885313	90	85	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Silent	SNP	42421379	42421379	14935	8	G	A	A	41	41	SLC20A2	A	2	2
C8orf40	114926	broad.mit.edu	36	8	42520896	42520896	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:42520896T>C	uc003xpg.1	+	c.124T>C	c.(124-126)TAT>CAT	p.Y42H	C8orf40_uc003xph.1_Missense_Mutation_p.Y35H|C8orf40_uc010lxo.1_Missense_Mutation_p.Y35H	NM_138436	NP_612445	Q96E16	CH040_HUMAN	hypothetical protein LOC114926	42	Helical; (Potential).					cytoplasm|integral to membrane|nucleolus					0	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)												0.43038	353.844276	354.839405	102	135	TT		KEEP	---	---	---	---	capture	Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Missense_Mutation	SNP	42520896	42520896	2536	8	T	C	C	57	57	C8orf40	C	4	4
CHRNB3	1142	broad.mit.edu	36	8	42706671	42706671	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:42706671G>A	uc003xpi.1	+	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	355	Cytoplasmic (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)												0.225	74.31063	85.435684	36	124	GG		KEEP	---	---	---	---	capture	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Missense_Mutation	SNP	42706671	42706671	3526	8	G	A	A	38	38	CHRNB3	A	1	1
FNTA	2339	broad.mit.edu	36	8	43046515	43046515	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:43046515G>T	uc003xps.1	+	c.541G>T	c.(541-543)GAT>TAT	p.D181Y	FNTA_uc003xpt.1_Missense_Mutation_p.D90Y|FNTA_uc003xpu.1_Missense_Mutation_p.D114Y|FNTA_uc003xpv.1_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	181	PFTA 3.				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)								148				0.227586	135.484091	155.250435	66	224	GG		KEEP	---	---	---	---	capture	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		Missense_Mutation	SNP	43046515	43046515	6219	8	G	T	T	33	33	FNTA	T	3	3
SGK196	84197	broad.mit.edu	36	8	43077885	43077885	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:43077885G>A	uc003xpw.1	+	c.37G>A	c.(37-39)GCC>ACC	p.A13T		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	13					protein phosphorylation	integral to membrane	ATP binding|protein kinase activity				0										75				0.424658	234.539277	235.593937	93	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43077885	43077885	14699	8	G	A	A	38	38	SGK196	A	1	1
C8orf42	157695	broad.mit.edu	36	8	432539	432539	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:432539C>T	uc003wpd.1	-	c.418G>A	c.(418-420)GCC>ACC	p.A140T	C8orf42_uc003wpc.2_Non-coding_Transcript	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	140											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)												0.463415	48.712405	48.760791	19	22	CC		KEEP	---	---	---	---	capture		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)	Missense_Mutation	SNP	432539	432539	2538	8	C	T	T	27	27	C8orf42	T	1	1
KIAA0146	23514	broad.mit.edu	36	8	48804537	48804537	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:48804537G>A	uc003xqd.1	+	c.2561G>A	c.(2560-2562)CGC>CAC	p.R854H	KIAA0146_uc003xqe.1_Missense_Mutation_p.R329H|KIAA0146_uc003xqf.1_Non-coding_Transcript|KIAA0146_uc010lxt.1_Intron|KIAA0146_uc010lxu.1_Missense_Mutation_p.R353H|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	854											0		Lung NSC(58;0.175)												0.25	8.89308	9.801786	4	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48804537	48804537	8464	8	G	A	A	38	38	KIAA0146	A	1	1
PRKDC	5591	broad.mit.edu	36	8	48905781	48905781	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:48905781C>A	uc003xqi.1	-	c.8335G>T	c.(8335-8337)GAC>TAC	p.D2779Y	PRKDC_uc003xqj.1_Missense_Mutation_p.D2779Y	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2779	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific 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)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.426357	139.177745	139.792461	55	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48905781	48905781	12964	8	C	A	A	32	32	PRKDC	A	3	3
PRKDC	5591	broad.mit.edu	36	8	48914341	48914341	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:48914341C>A	uc003xqi.1	-	c.7474G>T	c.(7474-7476)GAT>TAT	p.D2492Y	PRKDC_uc003xqj.1_Missense_Mutation_p.D2492Y	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2492	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific 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)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.238095	32.288804	36.240463	15	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48914341	48914341	12964	8	C	A	A	32	32	PRKDC	A	3	3
MCM4	4173	broad.mit.edu	36	8	49050006	49050006	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:49050006C>T	uc003xqk.1	+	c.2296C>T	c.(2296-2298)CGG>TGG	p.R766W	MCM4_uc003xql.1_Missense_Mutation_p.R766W	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	766					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)							p.R766W(BT483-Tumor)	376				0.420833	282.430549	283.743271	101	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49050006	49050006	9778	8	C	T	T	31	31	MCM4	T	1	1
SNTG1	54212	broad.mit.edu	36	8	51733776	51733776	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:51733776G>T	uc010lxy.1	+	c.1038G>T	c.(1036-1038)AAG>AAT	p.K346N	SNTG1_uc003xqs.1_Missense_Mutation_p.K346N|SNTG1_uc010lxz.1_Missense_Mutation_p.K346N	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	346	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.2	45.851658	55.485701	23	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51733776	51733776	15374	8	G	T	T	35	35	SNTG1	T	3	3
SNTG1	54212	broad.mit.edu	36	8	51827154	51827154	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:51827154C>A	uc010lxy.1	+	c.1325C>A	c.(1324-1326)TCT>TAT	p.S442Y	SNTG1_uc003xqs.1_Missense_Mutation_p.S442Y|SNTG1_uc010lxz.1_Intron	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	442					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.209924	108.758306	129.181535	55	207	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51827154	51827154	15374	8	C	A	A	32	32	SNTG1	A	3	3
PXDNL	137902	broad.mit.edu	36	8	52483570	52483570	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:52483570C>T	uc003xqu.2	-	c.3167G>A	c.(3166-3168)GGC>GAC	p.G1056D	PXDNL_uc003xqt.2_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like	1056					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.140625	12.533017	20.51187	9	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52483570	52483570	13306	8	C	T	T	26	26	PXDNL	T	2	2
PXDNL	137902	broad.mit.edu	36	8	52484055	52484055	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:52484055G>A	uc003xqu.2	-	c.2682C>T	c.(2680-2682)ATC>ATT	p.I894I	PXDNL_uc003xqt.2_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like	894					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.438596	137.611278	137.988856	50	64	GG		KEEP	---	---	---	---	capture			Silent	SNP	52484055	52484055	13306	8	G	A	A	37	37	PXDNL	A	1	1
PXDNL	137902	broad.mit.edu	36	8	52501765	52501765	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:52501765C>T	uc003xqu.2	-	c.1632G>A	c.(1630-1632)TGG>TGA	p.W544*		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like	544	Ig-like C2-type 4.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.44186	53.020791	53.146898	19	24	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	52501765	52501765	13306	8	C	T	T	30	30	PXDNL	T	5	2
PXDNL	137902	broad.mit.edu	36	8	52532751	52532751	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:52532751C>T	uc003xqu.2	-	c.842G>A	c.(841-843)CGA>CAA	p.R281Q		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like	281	Ig-like C2-type 1.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.215232	134.002851	156.620281	65	237	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52532751	52532751	13306	8	C	T	T	31	31	PXDNL	T	1	1
PCMTD1	115294	broad.mit.edu	36	8	52908729	52908729	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:52908729G>A	uc003xqx.2	-	c.484C>T	c.(484-486)CGA>TGA	p.R162*	PCMTD1_uc003xqw.2_Nonsense_Mutation_p.R162*|PCMTD1_uc010lya.1_Nonsense_Mutation_p.R86*	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	162						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)												0.18677	90.940529	114.573155	48	209	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	52908729	52908729	12006	8	G	A	A	37	37	PCMTD1	A	5	1
PCMTD1	115294	broad.mit.edu	36	8	52920782	52920782	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:52920782G>A	uc003xqx.2	-	c.402C>T	c.(400-402)AGC>AGT	p.S134S	PCMTD1_uc003xqw.2_Silent_p.S134S|PCMTD1_uc010lya.1_Intron	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	134						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)												0.368421	103.396145	104.843482	35	60	GG		KEEP	---	---	---	---	capture			Silent	SNP	52920782	52920782	12006	8	G	A	A	34	34	PCMTD1	A	2	2
ST18	9705	broad.mit.edu	36	8	53289344	53289344	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:53289344C>T	uc003xqz.1	-	c.27G>A	c.(25-27)ACG>ACA	p.T9T	ST18_uc003xra.1_Silent_p.T9T|ST18_uc003xrb.1_Silent_p.T9T|ST18_uc010lyb.1_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	9						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.187879	54.006344	69.093997	31	134	CC		KEEP	---	---	---	---	capture			Silent	SNP	53289344	53289344	15730	8	C	T	T	27	27	ST18	T	1	1
RB1CC1	9821	broad.mit.edu	36	8	53717672	53717672	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:53717672G>A	uc003xre.2	-	c.4129C>T	c.(4129-4131)CGT>TGT	p.R1377C	RB1CC1_uc003xrf.2_Missense_Mutation_p.R1377C	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1377	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|large_intestine(1)	9		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GBM(180;1701 2102 13475 42023 52570)								0.472868	177.061319	177.144173	61	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53717672	53717672	13560	8	G	A	A	37	37	RB1CC1	A	1	1
NPBWR1	2831	broad.mit.edu	36	8	54015274	54015274	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:54015274T>G	uc003xrg.1	+	c.254T>G	c.(253-255)CTC>CGC	p.L85R		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	85	Helical; Name=2; (Potential).				synaptic transmission	integral to membrane|plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)												0.55102	78.863025	78.96756	27	22	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54015274	54015274	10972	8	T	G	G	54	54	NPBWR1	G	4	4
ATP6V1H	51606	broad.mit.edu	36	8	54908121	54908121	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:54908121C>A	uc003xrl.1	-	c.192G>T	c.(190-192)GAG>GAT	p.E64D	ATP6V1H_uc003xrk.1_Missense_Mutation_p.E24D|ATP6V1H_uc003xrm.1_Missense_Mutation_p.E64D|ATP6V1H_uc003xrn.1_Missense_Mutation_p.E64D|ATP6V1H_uc010lyd.1_5'UTR|ATP6V1H_uc003xro.1_Missense_Mutation_p.E61D	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	64					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)												0.157088	57.779058	87.103159	41	220	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		Missense_Mutation	SNP	54908121	54908121	1208	8	C	A	A	32	32	ATP6V1H	A	3	3
TCEA1	6917	broad.mit.edu	36	8	55054175	55054175	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:55054175C>T	uc003xru.1	-	c.788G>A	c.(787-789)TGT>TAT	p.C263Y	TCEA1_uc010lyg.1_Non-coding_Transcript|TCEA1_uc003xrv.1_Missense_Mutation_p.C242Y	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	263	TFIIS-type.				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|general RNA polymerase II transcription factor activity|transcription elongation regulator activity|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)							p.C242F(KYSE510-Tumor)	405				0.276596	89.956336	96.297013	39	102	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		Missense_Mutation	SNP	55054175	55054175	16193	8	C	T	T	17	17	TCEA1	T	2	2
TCEA1	6917	broad.mit.edu	36	8	55085590	55085590	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:55085590A>C	uc003xru.1	-	c.79T>G	c.(79-81)TTG>GTG	p.L27V	TCEA1_uc003xrv.1_Intron|TCEA1_uc003xrw.1_Non-coding_Transcript	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	27	TFIIS N-terminal.				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|general RNA polymerase II transcription factor activity|transcription elongation regulator activity|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)								405				0.210526	8.48919	9.962914	4	15	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		Missense_Mutation	SNP	55085590	55085590	16193	8	A	C	C	1	1	TCEA1	C	4	4
RP1	6101	broad.mit.edu	36	8	55699960	55699960	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:55699960C>T	uc003xsd.1	+	c.965C>T	c.(964-966)TCA>TTA	p.S322L	RP1_uc003xse.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	322					cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)				Colon(91;1014 1389 7634 14542 40420)								0.207143	55.284223	66.425504	29	111	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		Missense_Mutation	SNP	55699960	55699960	14011	8	C	T	T	29	29	RP1	T	2	2
RP1	6101	broad.mit.edu	36	8	55701019	55701019	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:55701019A>T	uc003xsd.1	+	c.2024A>T	c.(2023-2025)AAA>ATA	p.K675I	RP1_uc003xse.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	675	Poly-Lys.				cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)				Colon(91;1014 1389 7634 14542 40420)								0.173469	27.815062	37.684345	17	81	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		Missense_Mutation	SNP	55701019	55701019	14011	8	A	T	T	1	1	RP1	T	4	4
RP1	6101	broad.mit.edu	36	8	55702972	55702972	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:55702972C>T	uc003xsd.1	+	c.3977C>T	c.(3976-3978)GCT>GTT	p.A1326V	RP1_uc003xse.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1326					cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)				Colon(91;1014 1389 7634 14542 40420)								0.435088	358.000969	359.056782	124	161	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		Missense_Mutation	SNP	55702972	55702972	14011	8	C	T	T	28	28	RP1	T	2	2
RP1	6101	broad.mit.edu	36	8	55703342	55703342	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:55703342C>T	uc003xsd.1	+	c.4347C>T	c.(4345-4347)GGC>GGT	p.G1449G	RP1_uc003xse.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1449					cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)				Colon(91;1014 1389 7634 14542 40420)								0.164179	38.959569	53.317245	22	112	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		Silent	SNP	55703342	55703342	14011	8	C	T	T	28	28	RP1	T	2	2
TGS1	96764	broad.mit.edu	36	8	56861861	56861861	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:56861861G>A	uc003xsj.2	+	c.850G>A	c.(850-852)GAT>AAT	p.D284N	TGS1_uc010lyh.1_Missense_Mutation_p.D188N	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	284					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|ribonucleoprotein complex import into nucleus|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol|small nuclear ribonucleoprotein complex	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)				Esophageal Squamous(34;275 823 4842 34837 48447)				978				0.492891	302.780851	302.79033	104	107	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.00027)|all cancers(17;0.00251)		Missense_Mutation	SNP	56861861	56861861	16365	8	G	A	A	37	37	TGS1	A	1	1
LYN	4067	broad.mit.edu	36	8	57027206	57027206	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:57027206C>T	uc003xsk.2	+	c.615C>T	c.(613-615)AGC>AGT	p.S205S	LYN_uc003xsl.2_Silent_p.S184S	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	205	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)								240				0.211921	64.814663	76.405176	32	119	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000834)|all cancers(17;0.00598)		Silent	SNP	57027206	57027206	9484	8	C	T	T	27	27	LYN	T	1	1
MOS	4342	broad.mit.edu	36	8	57188535	57188535	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:57188535G>A	uc003xsp.1	-	c.561C>T	c.(559-561)AAC>AAT	p.N187N		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	187	Protein kinase.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3						Esophageal Squamous(124;373 2870 4778)				32				0.346774	108.08756	110.657381	43	81	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.00117)|all cancers(17;0.00879)		Silent	SNP	57188535	57188535	10104	8	G	A	A	40	40	MOS	A	1	1
SDR16C5	195814	broad.mit.edu	36	8	57380776	57380776	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:57380776G>A	uc010lyk.1	-	c.770C>T	c.(769-771)GCT>GTT	p.A257V	SDR16C5_uc003xsy.1_Missense_Mutation_p.A257V|SDR16C5_uc010lyl.1_Missense_Mutation_p.A213V	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	257					detection of light stimulus involved in visual perception|keratinocyte proliferation|oxidation-reduction process|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)	2														0.418919	85.40538	85.831404	31	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57380776	57380776	14457	8	G	A	A	34	34	SDR16C5	A	2	2
IMPAD1	54928	broad.mit.edu	36	8	58055211	58055211	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:58055211C>A	uc003xte.2	-	c.487G>T	c.(487-489)GAG>TAG	p.E163*		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	163						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)												0.296703	63.486191	66.852179	27	64	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	58055211	58055211	8026	8	C	A	A	32	32	IMPAD1	A	5	3
FAM110B	90362	broad.mit.edu	36	8	59221446	59221446	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:59221446G>T	uc003xtj.1	+	c.103G>T	c.(103-105)GAC>TAC	p.D35Y	FAM110B_uc010lyn.1_Missense_Mutation_p.D35Y	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	35						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)												0.852941	85.888576	89.953556	29	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59221446	59221446	5594	8	G	T	T	33	33	FAM110B	T	3	3
TOX	9760	broad.mit.edu	36	8	59890782	59890782	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:59890782G>A	uc003xtw.1	-	c.1061C>T	c.(1060-1062)TCG>TTG	p.S354L		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	354						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				Pancreas(161;610 1969 17913 21374 22725)			p.S354L(JHUEM7-Tumor)	158				0.466667	120.23875	120.325978	42	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59890782	59890782	16919	8	G	A	A	37	37	TOX	A	1	1
CA8	767	broad.mit.edu	36	8	61356236	61356236	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:61356236C>A	uc003xtz.1	-	c.25G>T	c.(25-27)GAT>TAT	p.D9Y	CA8_uc003xua.1_Missense_Mutation_p.D9Y|CA8_uc003xub.2_Missense_Mutation_p.D9Y	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	9					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)												0.647059	31.827158	32.150864	11	6	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61356236	61356236	2639	8	C	A	A	32	32	CA8	A	3	3
RAB2A	5862	broad.mit.edu	36	8	61693743	61693743	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:61693743C>A	uc003xud.1	+	c.525C>A	c.(523-525)GTC>GTA	p.V175V		NM_002865	NP_002856	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	175					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity				0														0.78	118.743733	122.350306	39	11	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.0805)		Silent	SNP	61693743	61693743	13376	8	C	A	A	32	32	RAB2A	A	3	3
CHD7	55636	broad.mit.edu	36	8	61817953	61817953	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:61817953G>A	uc003xue.1	+	c.1408G>A	c.(1408-1410)GAA>AAA	p.E470K		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	470	Pro-rich.				central nervous system development|chromatin assembly or disassembly|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	chromatin|nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|lung(1)|breast(1)|pancreas(1)	8		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)												0.375	25.268144	25.597704	9	15	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.143)		Missense_Mutation	SNP	61817953	61817953	3464	8	G	A	A	41	41	CHD7	A	2	2
CLVS1	157807	broad.mit.edu	36	8	62451740	62451740	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:62451740C>T	uc003xuh.1	+	c.478C>T	c.(478-480)CGT>TGT	p.R160C	CLVS1_uc003xug.1_Silent_p.F158F|CLVS1_uc003xui.1_Non-coding_Transcript|CLVS1_uc010lyp.1_Missense_Mutation_p.R160C	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	160	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(1)|skin(1)	2														0.333333	123.083181	126.549306	47	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62451740	62451740	3709	8	C	T	T	31	31	CLVS1	T	1	1
ASPH	444	broad.mit.edu	36	8	62721920	62721920	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:62721920T>C	uc003xuj.1	-	c.562A>G	c.(562-564)ATG>GTG	p.M188V	ASPH_uc003xun.1_Intron|ASPH_uc003xum.1_Missense_Mutation_p.M188V|ASPH_uc003xuo.1_Missense_Mutation_p.M188V|ASPH_uc003xul.1_Missense_Mutation_p.M174V	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	188	Glu-rich.|Lumenal (Potential).				muscle contraction|oxidation-reduction process	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)					528				0.384146	603.901643	609.676149	189	303	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62721920	62721920	1072	8	T	C	C	49	49	ASPH	C	4	4
GGH	8836	broad.mit.edu	36	8	64090466	64090466	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:64090466C>T	uc003xuw.1	-	c.936G>A	c.(934-936)CAG>CAA	p.Q312Q		NM_003878	NP_003869	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase precursor	312	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity				0	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)									0.477778	127.51419	127.553172	43	47	CC		KEEP	---	---	---	---	capture			Silent	SNP	64090466	64090466	6625	8	C	T	T	28	28	GGH	T	2	2
YTHDF3	253943	broad.mit.edu	36	8	64261817	64261817	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:64261817G>T	uc003xuy.1	+	c.694G>T	c.(694-696)GCA>TCA	p.A232S	YTHDF3_uc010lys.1_Missense_Mutation_p.A176S|YTHDF3_uc003xuz.1_Missense_Mutation_p.A176S|YTHDF3_uc003xva.1_Missense_Mutation_p.A176S	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	232											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)												0.185629	55.2905	70.720485	31	136	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.161)		Missense_Mutation	SNP	64261817	64261817	18083	8	G	T	T	34	34	YTHDF3	T	3	3
CYP7B1	9420	broad.mit.edu	36	8	65691292	65691292	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:65691292C>A	uc003xvj.2	-	c.360G>T	c.(358-360)GAG>GAT	p.E120D		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	120					bile acid biosynthetic process|cell death|cholesterol metabolic process|oxidation-reduction 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)												0.189655	39.581881	50.035119	22	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65691292	65691292	4362	8	C	A	A	32	32	CYP7B1	A	3	3
ARMC1	55156	broad.mit.edu	36	8	66688038	66688038	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:66688038C>A	uc003xvl.1	-	c.460G>T	c.(460-462)GAT>TAT	p.D154Y		NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	154					metal ion transport		metal ion binding				0														0.128931	44.044496	86.713197	41	277	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		Missense_Mutation	SNP	66688038	66688038	967	8	C	A	A	29	29	ARMC1	A	3	3
PDE7A	5150	broad.mit.edu	36	8	66798366	66798366	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:66798366C>T	uc003xvq.1	-	c.1207G>A	c.(1207-1209)GAT>AAT	p.D403N	PDE7A_uc003xvp.1_Missense_Mutation_p.D377N|PDE7A_uc003xvr.1_Missense_Mutation_p.D403N	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	403	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0					Dyphylline(DB00651)|Ketotifen(DB00920)									0.260504	73.970181	80.150208	31	88	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Missense_Mutation	SNP	66798366	66798366	12072	8	C	T	T	31	31	PDE7A	T	1	1
PDE7A	5150	broad.mit.edu	36	8	66809630	66809630	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:66809630C>T	uc003xvq.1	-	c.649G>A	c.(649-651)GCT>ACT	p.A217T	PDE7A_uc003xvp.1_Missense_Mutation_p.A191T|PDE7A_uc003xvr.1_Missense_Mutation_p.A217T	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	217	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0					Dyphylline(DB00651)|Ketotifen(DB00920)									0.115578	39.969717	97.902815	46	352	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Missense_Mutation	SNP	66809630	66809630	12072	8	C	T	T	27	27	PDE7A	T	1	1
DNAJC5B	85479	broad.mit.edu	36	8	67151593	67151593	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:67151593C>A	uc003xvs.1	+	c.264C>A	c.(262-264)CTC>CTA	p.L88L	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	88					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)												0.201923	118.424452	144.21005	63	249	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		Silent	SNP	67151593	67151593	4834	8	C	A	A	32	32	DNAJC5B	A	3	3
DNAJC5B	85479	broad.mit.edu	36	8	67155304	67155304	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:67155304C>T	uc003xvs.1	+	c.472C>T	c.(472-474)CTG>TTG	p.L158L	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	158					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)												0.261538	44.543182	47.889318	17	48	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		Silent	SNP	67155304	67155304	4834	8	C	T	T	32	32	DNAJC5B	T	2	2
MYBL1	4603	broad.mit.edu	36	8	67655152	67655152	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:67655152G>A	uc003xwj.1	-	c.871C>T	c.(871-873)CCT>TCT	p.P291S	MYBL1_uc003xwk.1_Missense_Mutation_p.P290S|MYBL1_uc003xwl.1_Missense_Mutation_p.P291S	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	291	Transcriptional activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity			ovary(2)|pancreas(1)	3														0.466667	79.291898	79.350103	28	32	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		Missense_Mutation	SNP	67655152	67655152	10404	8	G	A	A	42	42	MYBL1	A	2	2
VCPIP1	80124	broad.mit.edu	36	8	67739770	67739770	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:67739770G>T	uc003xwn.1	-	c.1978C>A	c.(1978-1980)CCC>ACC	p.P660T	SGK3_uc003xwp.1_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	660					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		Lung NSC(129;0.142)|all_lung(136;0.227)				NSCLC(179;265 2915 6144 43644)				91				0.212806	220.070977	260.569573	113	418	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		Missense_Mutation	SNP	67739770	67739770	17706	8	G	T	T	41	41	VCPIP1	T	3	3
VCPIP1	80124	broad.mit.edu	36	8	67740501	67740501	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:67740501G>T	uc003xwn.1	-	c.1247C>A	c.(1246-1248)GCT>GAT	p.A416D	SGK3_uc003xwp.1_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	416					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		Lung NSC(129;0.142)|all_lung(136;0.227)				NSCLC(179;265 2915 6144 43644)				91				0.25	203.986779	224.227094	89	267	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		Missense_Mutation	SNP	67740501	67740501	17706	8	G	T	T	34	34	VCPIP1	T	3	3
C8orf45	157777	broad.mit.edu	36	8	67949142	67949142	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:67949142G>A	uc003xww.1	+	c.107G>A	c.(106-108)CGA>CAA	p.R36Q	C8orf45_uc003xwv.2_Missense_Mutation_p.R41Q|C8orf45_uc003xwx.1_Missense_Mutation_p.R36Q|C8orf45_uc003xwy.2_5'Flank	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	41					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)													0.414634	95.435561	95.956994	34	48	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)		Missense_Mutation	SNP	67949142	67949142	2540	8	G	A	A	37	37	C8orf45	A	1	1
LRRC67	286187	broad.mit.edu	36	8	68087779	68087779	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68087779G>T	uc003xxc.1	-	c.403C>A	c.(403-405)CTG>ATG	p.L135M		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	135	LRR 5.										0														0.2	67.006882	82.57997	37	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68087779	68087779	9394	8	G	T	T	33	33	LRRC67	T	3	3
CSPP1	79848	broad.mit.edu	36	8	68177853	68177853	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68177853G>A	uc003xxi.1	+	c.1083G>A	c.(1081-1083)ATG>ATA	p.M361I	CSPP1_uc003xxg.1_Missense_Mutation_p.M353I|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.1_Missense_Mutation_p.M326I|CSPP1_uc003xxk.1_Missense_Mutation_p.M32I	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	361						microtubule|microtubule organizing center|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)								669				0.221053	42.216644	49.028526	21	74	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		Missense_Mutation	SNP	68177853	68177853	4103	8	G	A	A	46	46	CSPP1	A	2	2
CSPP1	79848	broad.mit.edu	36	8	68233247	68233247	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68233247G>T	uc003xxi.1	+	c.2343G>T	c.(2341-2343)AAG>AAT	p.K781N	CSPP1_uc003xxg.1_Missense_Mutation_p.K773N|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.1_Missense_Mutation_p.K746N|CSPP1_uc003xxk.1_Missense_Mutation_p.K401N	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	781	Glu-rich.					microtubule|microtubule organizing center|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)								669				0.323077	51.346511	53.155993	21	44	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		Missense_Mutation	SNP	68233247	68233247	4103	8	G	T	T	33	33	CSPP1	T	3	3
CSPP1	79848	broad.mit.edu	36	8	68233831	68233831	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68233831G>T	uc003xxi.1	+	c.2533G>T	c.(2533-2535)GAA>TAA	p.E845*	CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.1_Nonsense_Mutation_p.E810*|CSPP1_uc003xxk.1_Nonsense_Mutation_p.E465*	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	845	Glu-rich.					microtubule|microtubule organizing center|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)								669				0.216931	81.762293	95.741697	41	148	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		Nonsense_Mutation	SNP	68233831	68233831	4103	8	G	T	T	33	33	CSPP1	T	5	3
ARFGEF1	10565	broad.mit.edu	36	8	68300847	68300847	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68300847G>A	uc003xxo.1	-	c.4042C>T	c.(4042-4044)CGC>TGC	p.R1348C	ARFGEF1_uc003xxl.1_Missense_Mutation_p.R802C|ARFGEF1_uc003xxn.1_Missense_Mutation_p.R331C	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1348					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)								932				0.130435	22.574587	40.894579	18	120	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		Missense_Mutation	SNP	68300847	68300847	863	8	G	A	A	37	37	ARFGEF1	A	1	1
ARFGEF1	10565	broad.mit.edu	36	8	68302028	68302028	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68302028G>A	uc003xxo.1	-	c.3814C>T	c.(3814-3816)CGA>TGA	p.R1272*	ARFGEF1_uc003xxl.1_Nonsense_Mutation_p.R726*|ARFGEF1_uc003xxn.1_Nonsense_Mutation_p.R255*	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1272					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)								932				0.425676	353.090941	354.518791	126	170	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		Nonsense_Mutation	SNP	68302028	68302028	863	8	G	A	A	37	37	ARFGEF1	A	5	1
ARFGEF1	10565	broad.mit.edu	36	8	68332920	68332920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68332920G>A	uc003xxo.1	-	c.2395C>T	c.(2395-2397)CGA>TGA	p.R799*	ARFGEF1_uc003xxl.1_Nonsense_Mutation_p.R253*	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	799	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)								932				0.220588	64.073658	73.853081	30	106	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		Nonsense_Mutation	SNP	68332920	68332920	863	8	G	A	A	37	37	ARFGEF1	A	5	1
ARFGEF1	10565	broad.mit.edu	36	8	68371297	68371297	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68371297G>T	uc003xxo.1	-	c.562C>A	c.(562-564)CTC>ATC	p.L188I		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	188					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)								932				0.196364	95.264264	118.92888	54	221	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		Missense_Mutation	SNP	68371297	68371297	863	8	G	T	T	33	33	ARFGEF1	T	3	3
ARFGEF1	10565	broad.mit.edu	36	8	68374016	68374016	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68374016A>G	uc003xxo.1	-	c.441T>C	c.(439-441)GTT>GTC	p.V147V		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	147					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)								932				0.32	25.192727	25.911556	8	17	AA		KEEP	---	---	---	---	capture	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		Silent	SNP	68374016	68374016	863	8	A	G	G	9	9	ARFGEF1	G	4	4
CPA6	57094	broad.mit.edu	36	8	68559495	68559495	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:68559495G>A	uc003xxq.2	-	c.720C>T	c.(718-720)GTC>GTT	p.V240V	CPA6_uc003xxr.2_Silent_p.V92V|CPA6_uc003xxs.2_Silent_p.V240V	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase B isoform 1 precursor	240					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2														0.228723	95.327062	108.018975	43	145	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		Silent	SNP	68559495	68559495	3932	8	G	A	A	37	37	CPA6	A	1	1
PREX2	80243	broad.mit.edu	36	8	69102109	69102109	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:69102109G>A	uc003xxv.1	+	c.540G>A	c.(538-540)TTG>TTA	p.L180L	PREX2_uc003xxu.1_Silent_p.L180L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	180	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			large_intestine(4)|pancreas(3)|lung(2)|skin(2)|ovary(1)|kidney(1)	13										1011				0.246377	74.781229	82.865625	34	104	GG		KEEP	---	---	---	---	capture			Silent	SNP	69102109	69102109	12920	8	G	A	A	45	45	PREX2	A	2	2
PREX2	80243	broad.mit.edu	36	8	69155246	69155246	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:69155246G>A	uc003xxv.1	+	c.1657G>A	c.(1657-1659)GAA>AAA	p.E553K	PREX2_uc003xxu.1_Missense_Mutation_p.E553K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	553	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			large_intestine(4)|pancreas(3)|lung(2)|skin(2)|ovary(1)|kidney(1)	13									p.E553K(HUNS1-Tumor)	1011				0.230216	70.724707	80.002229	32	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69155246	69155246	12920	8	G	A	A	37	37	PREX2	A	1	1
PREX2	80243	broad.mit.edu	36	8	69183099	69183099	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:69183099G>T	uc003xxv.1	+	c.2917G>T	c.(2917-2919)GAA>TAA	p.E973*		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	973					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			large_intestine(4)|pancreas(3)|lung(2)|skin(2)|ovary(1)|kidney(1)	13										1011				0.414414	119.703904	120.419438	46	65	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	69183099	69183099	12920	8	G	T	T	33	33	PREX2	T	5	3
PREX2	80243	broad.mit.edu	36	8	69209024	69209024	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:69209024G>T	uc003xxv.1	+	c.3943G>T	c.(3943-3945)GGT>TGT	p.G1315C		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1315					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			large_intestine(4)|pancreas(3)|lung(2)|skin(2)|ovary(1)|kidney(1)	13										1011				0.176136	55.019186	72.42304	31	145	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69209024	69209024	12920	8	G	T	T	35	35	PREX2	T	3	3
SULF1	23213	broad.mit.edu	36	8	70676501	70676501	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70676501C>T	uc010lza.1	+	c.944C>T	c.(943-945)GCC>GTC	p.A315V	SULF1_uc003xyd.2_Missense_Mutation_p.A315V|SULF1_uc003xye.2_Missense_Mutation_p.A315V|SULF1_uc003xyf.2_Missense_Mutation_p.A315V|SULF1_uc003xyg.2_Missense_Mutation_p.A315V|SULF1_uc003xyh.1_Non-coding_Transcript	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1	315					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Breast(64;0.0654)									473				0.215736	174.645983	204.043466	85	309	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		Missense_Mutation	SNP	70676501	70676501	15890	8	C	T	T	26	26	SULF1	T	2	2
SULF1	23213	broad.mit.edu	36	8	70713389	70713389	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70713389A>G	uc010lza.1	+	c.2383A>G	c.(2383-2385)ACT>GCT	p.T795A	SULF1_uc003xyd.2_Missense_Mutation_p.T795A|SULF1_uc003xye.2_Missense_Mutation_p.T795A|SULF1_uc003xyf.2_Missense_Mutation_p.T795A|SULF1_uc003xyg.2_Missense_Mutation_p.T795A|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_Intron|SULF1_uc003xyj.1_5'UTR	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1	795					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Breast(64;0.0654)									473				0.415686	359.233994	360.809064	106	149	AA		KEEP	---	---	---	---	capture	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		Missense_Mutation	SNP	70713389	70713389	15890	8	A	G	G	14	14	SULF1	G	4	4
SULF1	23213	broad.mit.edu	36	8	70715625	70715625	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70715625A>G	uc010lza.1	+	c.2580A>G	c.(2578-2580)CTA>CTG	p.L860L	SULF1_uc003xyd.2_Silent_p.L860L|SULF1_uc003xye.2_Silent_p.L860L|SULF1_uc003xyf.2_Silent_p.L860L|SULF1_uc003xyg.2_Silent_p.L860L|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_Missense_Mutation_p.Y7C|SULF1_uc003xyj.1_Missense_Mutation_p.Y7C	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1	860					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Breast(64;0.0654)									473				0.222222	79.991263	89.563268	30	105	AA		KEEP	---	---	---	---	capture	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		Silent	SNP	70715625	70715625	15890	8	A	G	G	14	14	SULF1	G	4	4
SLCO5A1	81796	broad.mit.edu	36	8	70747964	70747964	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70747964G>A	uc003xyl.1	-	c.2241C>T	c.(2239-2241)TTC>TTT	p.F747F	SLCO5A1_uc010lzb.1_Silent_p.F692F|SLCO5A1_uc003xyk.1_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	747	Helical; Name=12; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)													0.450593	318.615382	319.153018	114	139	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		Silent	SNP	70747964	70747964	15228	8	G	A	A	37	37	SLCO5A1	A	1	1
SLCO5A1	81796	broad.mit.edu	36	8	70779937	70779937	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70779937T>C	uc003xyl.1	-	c.1505A>G	c.(1504-1506)GAA>GGA	p.E502G	SLCO5A1_uc010lzb.1_Missense_Mutation_p.E447G|SLCO5A1_uc003xyk.1_Missense_Mutation_p.E502G	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	502	Helical; Name=9; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)													0.230769	162.46275	178.856141	57	190	TT		KEEP	---	---	---	---	capture	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		Missense_Mutation	SNP	70779937	70779937	15228	8	T	C	C	62	62	SLCO5A1	C	4	4
SLCO5A1	81796	broad.mit.edu	36	8	70836609	70836609	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70836609T>C	uc003xyl.1	-	c.963A>G	c.(961-963)GGA>GGG	p.G321G	SLCO5A1_uc010lzb.1_Silent_p.G321G|SLCO5A1_uc003xyk.1_Silent_p.G321G|SLCO5A1_uc010lzc.1_Silent_p.G321G	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	321	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)													0.503497	243.415661	243.417388	72	71	TT		KEEP	---	---	---	---	capture	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		Silent	SNP	70836609	70836609	15228	8	T	C	C	58	58	SLCO5A1	C	4	4
SLCO5A1	81796	broad.mit.edu	36	8	70906555	70906555	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70906555C>T	uc003xyl.1	-	c.907_splice	c.e2+1	p.A303_splice	SLCO5A1_uc010lzb.1_Intron|SLCO5A1_uc003xyk.1_Intron|SLCO5A1_uc010lzc.1_Splice_Site_SNP_p.A303_splice	NM_030958	NP_112220			solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)													0.443182	218.427319	218.921457	78	98	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		Splice_Site_SNP	SNP	70906555	70906555	15228	8	C	T	T	18	18	SLCO5A1	T	5	2
SLCO5A1	81796	broad.mit.edu	36	8	70907088	70907088	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70907088C>T	uc003xyl.1	-	c.375G>A	c.(373-375)ACG>ACA	p.T125T	SLCO5A1_uc010lzb.1_Silent_p.T125T|SLCO5A1_uc003xyk.1_Silent_p.T125T|SLCO5A1_uc010lzc.1_Silent_p.T125T	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	125	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.496732	237.030763	237.031746	76	77	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		Silent	SNP	70907088	70907088	15228	8	C	T	T	23	23	SLCO5A1	T	1	1
NCOA2	10499	broad.mit.edu	36	8	71199564	71199564	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:71199564G>A	uc003xyn.1	-	c.4007C>T	c.(4006-4008)CCC>CTC	p.P1336L		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1336					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	soft_tissue(4)|lung(2)|skin(2)|ovary(1)|pancreas(1)	10	Breast(64;0.201)									476				0.2125	76.405602	88.599107	34	126	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		Missense_Mutation	SNP	71199564	71199564	10628	8	G	A	A	43	43	NCOA2	A	2	2
TRAM1	23471	broad.mit.edu	36	8	71657967	71657967	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:71657967G>T	uc003xyo.1	-	c.1037C>A	c.(1036-1038)TCT>TAT	p.S346Y		NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	346	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1						Ovarian(85;984 1334 5116 12432 40638)								0.352	112.854497	115.272759	44	81	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		Missense_Mutation	SNP	71657967	71657967	16995	8	G	T	T	33	33	TRAM1	T	3	3
TRAM1	23471	broad.mit.edu	36	8	71672692	71672692	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:71672692G>T	uc003xyo.1	-	c.418C>A	c.(418-420)CTC>ATC	p.L140I		NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	140	Helical; (Potential).|TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1						Ovarian(85;984 1334 5116 12432 40638)								0.240506	41.379622	46.239273	19	60	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		Missense_Mutation	SNP	71672692	71672692	16995	8	G	T	T	33	33	TRAM1	T	3	3
TRPA1	8989	broad.mit.edu	36	8	73137622	73137622	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:73137622C>T	uc003xza.1	-	c.773G>A	c.(772-774)TGC>TAC	p.C258Y		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	258	ANK 6.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6					Menthol(DB00825)									0.39823	118.340104	119.367109	45	68	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.223)		Missense_Mutation	SNP	73137622	73137622	17128	8	C	T	T	25	25	TRPA1	T	2	2
RDH10	157506	broad.mit.edu	36	8	74397582	74397582	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:74397582C>T	uc003xzi.1	+	c.885C>T	c.(883-885)ATC>ATT	p.I295I	RDH10_uc003xzj.1_Silent_p.I130I	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10	295					oxidation-reduction process|retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity				0	Breast(64;0.0954)													0.860294	366.73532	383.780894	117	19	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		Silent	SNP	74397582	74397582	13658	8	C	T	T	31	31	RDH10	T	1	1
STAU2	27067	broad.mit.edu	36	8	74747978	74747978	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:74747978G>T	uc003xzm.2	-	c.328C>A	c.(328-330)CCT>ACT	p.P110T	STAU2_uc003xzn.2_Missense_Mutation_p.P78T|STAU2_uc003xzo.1_Missense_Mutation_p.P110T|STAU2_uc003xzp.1_Missense_Mutation_p.P78T|STAU2_uc003xzq.1_Intron|STAU2_uc010lzk.1_Missense_Mutation_p.P78T|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.2_Missense_Mutation_p.P78T|STAU2_uc003xzr.2_Missense_Mutation_p.P72T	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2	110	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)													0.336735	86.445423	88.755798	33	65	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		Missense_Mutation	SNP	74747978	74747978	15793	8	G	T	T	42	42	STAU2	T	3	3
PI15	51050	broad.mit.edu	36	8	75918879	75918879	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:75918879C>T	uc003yal.1	+	c.382C>T	c.(382-384)CGC>TGC	p.R128C	PI15_uc003yam.1_Missense_Mutation_p.R128C	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	128						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)													0.365957	227.576095	231.293232	86	149	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		Missense_Mutation	SNP	75918879	75918879	12292	8	C	T	T	19	19	PI15	T	1	1
ZFHX4	79776	broad.mit.edu	36	8	77928860	77928860	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:77928860C>A	uc003yav.1	+	c.7013C>A	c.(7012-7014)TCT>TAT	p.S2338Y	ZFHX4_uc003yau.1_Missense_Mutation_p.S2383Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2338Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2338					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15														0.397436	82.101742	82.821576	31	47	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Missense_Mutation	SNP	77928860	77928860	18223	8	C	A	A	32	32	ZFHX4	A	3	3
ZFHX4	79776	broad.mit.edu	36	8	77929801	77929801	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:77929801C>T	uc003yav.1	+	c.7954C>T	c.(7954-7956)CGG>TGG	p.R2652W	ZFHX4_uc003yau.1_Missense_Mutation_p.R2697W|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2652W	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2652	C2H2-type 17.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15														0.403846	56.562387	56.98309	21	31	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Missense_Mutation	SNP	77929801	77929801	18223	8	C	T	T	31	31	ZFHX4	T	1	1
ZFHX4	79776	broad.mit.edu	36	8	77930878	77930878	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:77930878C>T	uc003yav.1	+	c.9031C>T	c.(9031-9033)CGG>TGG	p.R3011W	ZFHX4_uc003yau.1_Missense_Mutation_p.R3056W|ZFHX4_uc003yaw.1_Missense_Mutation_p.R3011W	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3011					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15														0.367187	118.977426	120.967134	47	81	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Missense_Mutation	SNP	77930878	77930878	18223	8	C	T	T	31	31	ZFHX4	T	1	1
PEX2	5828	broad.mit.edu	36	8	78058243	78058243	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:78058243C>A	uc003yax.1	-	c.727G>T	c.(727-729)GAA>TAA	p.E243*	PEX2_uc003yay.1_Nonsense_Mutation_p.E243*|PEX2_uc003yaz.1_Nonsense_Mutation_p.E243*|PEX2_uc010lzm.1_Nonsense_Mutation_p.E243*	NM_000318	NP_001073336	P28328	PEX2_HUMAN	peroxin 2	243					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1														0.418605	143.012618	143.761746	54	75	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	78058243	78058243	12167	8	C	A	A	32	32	PEX2	A	5	3
IL7	3574	broad.mit.edu	36	8	79814807	79814807	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:79814807G>T	uc003ybg.1	-	c.213C>A	c.(211-213)ATC>ATA	p.I71I	IL7_uc003ybe.1_Silent_p.I30I|IL7_uc003ybf.1_Silent_p.I30I|IL7_uc003ybh.1_Non-coding_Transcript|IL7_uc003ybi.2_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	interleukin 7 precursor	71					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding				0														0.324324	29.783701	30.79901	12	25	GG		KEEP	---	---	---	---	capture			Silent	SNP	79814807	79814807	8005	8	G	T	T	33	33	IL7	T	3	3
TPD52	7163	broad.mit.edu	36	8	81126387	81126387	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:81126387C>T	uc003ybr.1	-	c.436G>A	c.(436-438)GCT>ACT	p.A146T	TPD52_uc010lzr.1_Non-coding_Transcript|TPD52_uc003ybq.1_Non-coding_Transcript|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Missense_Mutation_p.A106T|TPD52_uc003ybt.1_Missense_Mutation_p.A106T|TPD52_uc003ybu.1_Non-coding_Transcript	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	tumor protein D52 isoform 1	146					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)												0.404145	219.925672	221.47089	78	115	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		Missense_Mutation	SNP	81126387	81126387	16941	8	C	T	T	26	26	TPD52	T	2	2
ZBTB10	65986	broad.mit.edu	36	8	81574678	81574678	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:81574678G>A	uc003ybx.2	+	c.1367G>A	c.(1366-1368)CGA>CAA	p.R456Q	ZBTB10_uc003ybv.2_Missense_Mutation_p.R164Q|ZBTB10_uc003ybw.2_Missense_Mutation_p.R456Q|ZBTB10_uc010lzt.1_Missense_Mutation_p.R456Q	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	456					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)													0.221591	83.130499	95.687327	39	137	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		Missense_Mutation	SNP	81574678	81574678	18109	8	G	A	A	37	37	ZBTB10	A	1	1
FABP9	646480	broad.mit.edu	36	8	82533188	82533188	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:82533188G>A	uc003ycc.1	-	c.384C>T	c.(382-384)ATC>ATT	p.I128I		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	128							lipid binding|transporter activity				0														0.183575	77.813556	97.277173	38	169	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.186)		Silent	SNP	82533188	82533188	5560	8	G	A	A	33	33	FABP9	A	2	2
SGK223	157285	broad.mit.edu	36	8	8272278	8272278	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:8272278C>T	uc003wsh.2	-	c.1051G>A	c.(1051-1053)GCC>ACC	p.A351T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	351					protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GBM(34;731 755 10259 33573 33867)				135				0.571429	21.053258	21.132767	8	6	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8272278	8272278	14701	8	C	T	T	27	27	SGK223	T	1	1
SGK223	157285	broad.mit.edu	36	8	8272818	8272818	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:8272818C>T	uc003wsh.2	-	c.511G>A	c.(511-513)GGC>AGC	p.G171S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	171					protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GBM(34;731 755 10259 33573 33867)				135				0.227074	123.483799	139.142004	52	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8272818	8272818	14701	8	C	T	T	23	23	SGK223	T	1	1
CHMP4C	92421	broad.mit.edu	36	8	82807604	82807604	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:82807604G>A	uc003ycl.1	+	c.188G>A	c.(187-189)CGA>CAA	p.R63Q		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	63	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2														0.37037	26.94233	27.341221	10	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82807604	82807604	3492	8	G	A	A	37	37	CHMP4C	A	1	1
CHMP4C	92421	broad.mit.edu	36	8	82827992	82827992	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:82827992G>A	uc003ycl.1	+	c.329G>A	c.(328-330)GGC>GAC	p.G110D		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	110	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2														0.270492	74.913298	80.716417	33	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82827992	82827992	3492	8	G	A	A	42	42	CHMP4C	A	2	2
CHMP4C	92421	broad.mit.edu	36	8	82833074	82833074	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:82833074G>A	uc003ycl.1	+	c.626G>A	c.(625-627)CGA>CAA	p.R209Q		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	209	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2														0.310924	94.527361	98.318585	37	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82833074	82833074	3492	8	G	A	A	37	37	CHMP4C	A	1	1
RALYL	138046	broad.mit.edu	36	8	85948148	85948148	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:85948148C>T	uc003yct.2	+	c.685C>T	c.(685-687)CGC>TGC	p.R229C	RALYL_uc003ycq.2_Missense_Mutation_p.R216C|RALYL_uc003ycr.2_Missense_Mutation_p.R216C|RALYL_uc003ycs.2_Missense_Mutation_p.R216C|RALYL_uc010lzy.1_Missense_Mutation_p.R205C|RALYL_uc003ycu.2_Missense_Mutation_p.R143C|RALYL_uc003ycv.2_Missense_Mutation_p.R128C	NM_001100391	NP_001093861	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 1	216	Potential.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1														0.466667	19.622949	19.637494	7	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85948148	85948148	13480	8	C	T	T	27	27	RALYL	T	1	1
CLDN23	137075	broad.mit.edu	36	8	8597502	8597502	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:8597502G>A	uc003wsi.1	+	c.184G>A	c.(184-186)GAG>AAG	p.E62K		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	62	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)												0.464286	36.272023	36.303058	13	15	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	Missense_Mutation	SNP	8597502	8597502	3620	8	G	A	A	37	37	CLDN23	A	1	1
CA1	759	broad.mit.edu	36	8	86428145	86428145	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:86428145G>A	uc003ydh.2	-	c.682C>T	c.(682-684)CGC>TGC	p.R228C	CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Missense_Mutation_p.R228C|CA1_uc003ydi.2_Missense_Mutation_p.R228C	NM_001738	NP_001729	P00915	CAH1_HUMAN	carbonic anhydrase I	228					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			ovary(1)	1		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)									0.213439	132.832189	152.008732	54	199	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86428145	86428145	2626	8	G	A	A	39	39	CA1	A	1	1
CA3	761	broad.mit.edu	36	8	86541560	86541560	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:86541560G>T	uc003ydj.1	+	c.239G>T	c.(238-240)AGA>ATA	p.R80I		NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	80					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0														0.18408	66.742809	85.579361	37	164	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86541560	86541560	2633	8	G	T	T	33	33	CA3	T	3	3
SLC7A13	157724	broad.mit.edu	36	8	87311211	87311211	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:87311211C>T	uc003ydq.1	-	c.412G>A	c.(412-414)GCA>ACA	p.A138T	SLC7A13_uc003ydr.1_Missense_Mutation_p.A138T	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	138	Helical; Name=4; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1														0.130435	22.95744	41.291722	18	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87311211	87311211	15192	8	C	T	T	26	26	SLC7A13	T	2	2
CPNE3	8895	broad.mit.edu	36	8	87637577	87637577	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:87637577C>T	uc003ydv.1	+	c.1386C>T	c.(1384-1386)AGC>AGT	p.S462S	CPNE3_uc003ydw.1_Silent_p.S178S	NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	462	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)	1														0.471795	258.676287	258.811581	92	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	87637577	87637577	3951	8	C	T	T	27	27	CPNE3	T	1	1
MFHAS1	9258	broad.mit.edu	36	8	8785195	8785195	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:8785195A>G	uc003wsj.1	-	c.2784T>C	c.(2782-2784)AGT>AGC	p.S928S		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	928											0		Hepatocellular(245;0.217)				Melanoma(103;1201 2045 17515 28966)								0.20098	97.074926	114.018748	41	163	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.124)	Silent	SNP	8785195	8785195	9911	8	A	G	G	2	2	MFHAS1	G	4	4
MFHAS1	9258	broad.mit.edu	36	8	8785828	8785828	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:8785828C>A	uc003wsj.1	-	c.2151G>T	c.(2149-2151)GAG>GAT	p.E717D		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	717											0		Hepatocellular(245;0.217)				Melanoma(103;1201 2045 17515 28966)								0.188406	21.625876	27.908573	13	56	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.124)	Missense_Mutation	SNP	8785828	8785828	9911	8	C	A	A	24	24	MFHAS1	A	3	3
MFHAS1	9258	broad.mit.edu	36	8	8785910	8785910	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:8785910C>T	uc003wsj.1	-	c.2069G>A	c.(2068-2070)GGC>GAC	p.G690D		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	690											0		Hepatocellular(245;0.217)				Melanoma(103;1201 2045 17515 28966)								0.405797	74.287097	74.821634	28	41	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.124)	Missense_Mutation	SNP	8785910	8785910	9911	8	C	T	T	26	26	MFHAS1	T	2	2
MFHAS1	9258	broad.mit.edu	36	8	8786162	8786162	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:8786162C>T	uc003wsj.1	-	c.1817G>A	c.(1816-1818)CGC>CAC	p.R606H		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	606	Roc.										0		Hepatocellular(245;0.217)				Melanoma(103;1201 2045 17515 28966)								0.155556	30.40223	45.693193	21	114	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.124)	Missense_Mutation	SNP	8786162	8786162	9911	8	C	T	T	27	27	MFHAS1	T	1	1
DCAF4L2	138009	broad.mit.edu	36	8	88954572	88954572	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:88954572G>T	uc003ydz.1	-	c.744C>A	c.(742-744)ATC>ATA	p.I248I		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	248										ovary(1)	1														0.436842	213.548668	214.216375	83	107	GG		KEEP	---	---	---	---	capture			Silent	SNP	88954572	88954572	4443	8	G	T	T	33	33	DCAF4L2	T	3	3
DCAF4L2	138009	broad.mit.edu	36	8	88955019	88955019	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:88955019G>A	uc003ydz.1	-	c.297C>T	c.(295-297)TAC>TAT	p.Y99Y		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	99										ovary(1)	1														0.2	111.903668	136.171585	58	232	GG		KEEP	---	---	---	---	capture			Silent	SNP	88955019	88955019	4443	8	G	A	A	40	40	DCAF4L2	A	1	1
OSGIN2	734	broad.mit.edu	36	8	90996019	90996019	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:90996019C>T	uc003yeh.1	+	c.399C>T	c.(397-399)TTC>TTT	p.F133F	OSGIN2_uc003yeg.1_Silent_p.F89F	NM_001126111	NP_001119583	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	89					germ cell development|meiosis						0														0.155425	81.446369	120.143708	53	288	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.0344)		Silent	SNP	90996019	90996019	11701	8	C	T	T	31	31	OSGIN2	T	1	1
OSGIN2	734	broad.mit.edu	36	8	91006884	91006884	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:91006884G>T	uc003yeh.1	+	c.1599G>T	c.(1597-1599)CAG>CAT	p.Q533H	OSGIN2_uc003yeg.1_Missense_Mutation_p.Q489H	NM_001126111	NP_001119583	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	489					germ cell development|meiosis						0														0.12844	28.533699	57.881927	28	190	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.0344)		Missense_Mutation	SNP	91006884	91006884	11701	8	G	T	T	33	33	OSGIN2	T	3	3
DECR1	1666	broad.mit.edu	36	8	91102427	91102427	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:91102427G>T	uc003yek.1	+	c.532G>T	c.(532-534)GAA>TAA	p.E178*		NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	178					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0														0.157447	54.707407	81.03337	37	198	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.00953)		Nonsense_Mutation	SNP	91102427	91102427	4553	8	G	T	T	33	33	DECR1	T	5	3
CALB1	793	broad.mit.edu	36	8	91163475	91163475	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:91163475C>A	uc003yel.1	-	c.111G>T	c.(109-111)CAG>CAT	p.Q37H	CALB1_uc003yem.1_Non-coding_Transcript	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	37	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1						Melanoma(46;573 1182 27367 39727 48386)								0.139265	88.513708	153.572911	72	445	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.00953)		Missense_Mutation	SNP	91163475	91163475	2689	8	C	A	A	32	32	CALB1	A	3	3
NECAB1	64168	broad.mit.edu	36	8	91998929	91998929	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:91998929G>A	uc003yeq.1	+	c.391G>A	c.(391-393)GTA>ATA	p.V131I		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	131					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1														0.310127	120.912458	125.989563	49	109	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.0499)		Missense_Mutation	SNP	91998929	91998929	10703	8	G	A	A	40	40	NECAB1	A	1	1
NECAB1	64168	broad.mit.edu	36	8	92022271	92022271	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:92022271G>T	uc003yeq.1	+	c.829G>T	c.(829-831)GAG>TAG	p.E277*	NECAB1_uc003yer.1_Nonsense_Mutation_p.E26*	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	277	ABM.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1														0.555556	13.270547	13.294163	5	4	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.0499)		Nonsense_Mutation	SNP	92022271	92022271	10703	8	G	T	T	41	41	NECAB1	T	5	3
SLC26A7	115111	broad.mit.edu	36	8	92415754	92415754	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:92415754T>C	uc003yez.1	+	c.698T>C	c.(697-699)TTA>TCA	p.L233S	SLC26A7_uc003yex.1_Missense_Mutation_p.L233S|SLC26A7_uc003yey.1_Non-coding_Transcript|SLC26A7_uc003yfa.1_Missense_Mutation_p.L233S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform b	233	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2														0.318436	364.262603	374.730791	114	244	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.00802)		Missense_Mutation	SNP	92415754	92415754	15019	8	T	C	C	61	61	SLC26A7	C	4	4
RUNX1T1	862	broad.mit.edu	36	8	93086532	93086532	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:93086532C>T	uc003yfd.2	-	c.728G>A	c.(727-729)CGA>CAA	p.R243Q	RUNX1T1_uc003yfb.1_Missense_Mutation_p.R206Q|RUNX1T1_uc003yfc.1_Missense_Mutation_p.R216Q|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R206Q|RUNX1T1_uc010mao.1_Missense_Mutation_p.R216Q|RUNX1T1_uc003yff.1_Missense_Mutation_p.R206Q	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	243					generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5										213				0.133652	68.310337	122.89599	56	363	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.0141)		Missense_Mutation	SNP	93086532	93086532	14227	8	C	T	T	31	31	RUNX1T1	T	1	1
RUNX1T1	862	broad.mit.edu	36	8	93086658	93086658	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:93086658C>T	uc003yfd.2	-	c.602G>A	c.(601-603)AGA>AAA	p.R201K	RUNX1T1_uc003yfb.1_Missense_Mutation_p.R164K|RUNX1T1_uc003yfc.1_Missense_Mutation_p.R174K|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R164K|RUNX1T1_uc010mao.1_Missense_Mutation_p.R174K|RUNX1T1_uc003yff.1_Missense_Mutation_p.R164K	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	201	TAFH.				generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5										213				0.648889	467.782344	472.147353	146	79	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.0141)		Missense_Mutation	SNP	93086658	93086658	14227	8	C	T	T	32	32	RUNX1T1	T	2	2
RBM12B	389677	broad.mit.edu	36	8	94815994	94815994	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:94815994C>T	uc003yfz.1	-	c.1821G>A	c.(1819-1821)CCG>CCA	p.P607P	RBM12B_uc010mas.1_Silent_p.P607P	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	607							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)													0.252308	192.139336	210.223542	82	243	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.0168)		Silent	SNP	94815994	94815994	13575	8	C	T	T	23	23	RBM12B	T	1	1
RBM12B	389677	broad.mit.edu	36	8	94816427	94816427	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:94816427C>T	uc003yfz.1	-	c.1388G>A	c.(1387-1389)CGA>CAA	p.R463Q	RBM12B_uc010mas.1_Missense_Mutation_p.R463Q	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	463	RRM 3.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)													0.201724	234.351672	282.311332	117	463	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.0168)		Missense_Mutation	SNP	94816427	94816427	13575	8	C	T	T	31	31	RBM12B	T	1	1
RBM12B	389677	broad.mit.edu	36	8	94817365	94817365	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:94817365C>T	uc003yfz.1	-	c.450G>A	c.(448-450)TTG>TTA	p.L150L	RBM12B_uc010mas.1_Silent_p.L150L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	150							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)													0.144809	70.678388	115.212657	53	313	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.0168)		Silent	SNP	94817365	94817365	13575	8	C	T	T	29	29	RBM12B	T	2	2
RBM12B	389677	broad.mit.edu	36	8	94817770	94817770	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:94817770C>A	uc003yfz.1	-	c.45G>T	c.(43-45)GGG>GGT	p.G15G	RBM12B_uc010mas.1_Silent_p.G15G	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	15							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)													0.136719	42.355267	75.073098	35	221	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.0168)		Silent	SNP	94817770	94817770	13575	8	C	A	A	26	26	RBM12B	A	3	3
TMEM67	91147	broad.mit.edu	36	8	94862062	94862062	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:94862062C>T	uc003ygd.2	+	c.750C>T	c.(748-750)TAC>TAT	p.Y250Y	TMEM67_uc003yga.2_Silent_p.Y179Y|TMEM67_uc010mat.1_Silent_p.Y175Y|TMEM67_uc010maw.1_Intron	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	260					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)													0.148532	122.165246	190.830941	86	493	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00896)		Silent	SNP	94862062	94862062	16735	8	C	T	T	19	19	TMEM67	T	1	1
TMEM67	91147	broad.mit.edu	36	8	94872668	94872668	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:94872668T>C	uc003ygd.2	+	c.1490T>C	c.(1489-1491)GTT>GCT	p.V497A	TMEM67_uc003yga.2_Missense_Mutation_p.V426A|TMEM67_uc010maw.1_Missense_Mutation_p.V213A	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	507					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)													0.161616	35.541478	46.318975	16	83	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00896)		Missense_Mutation	SNP	94872668	94872668	16735	8	T	C	C	60	60	TMEM67	C	4	4
TMEM67	91147	broad.mit.edu	36	8	94878780	94878780	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:94878780G>T	uc003ygd.2	+	c.1976G>T	c.(1975-1977)AGA>ATA	p.R659I	TMEM67_uc003yga.2_Missense_Mutation_p.R588I|TMEM67_uc010maw.1_Missense_Mutation_p.R375I	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	669					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)													0.103641	17.785699	73.663821	37	320	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00896)		Missense_Mutation	SNP	94878780	94878780	16735	8	G	T	T	33	33	TMEM67	T	3	3
TMEM67	91147	broad.mit.edu	36	8	94878855	94878855	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:94878855C>T	uc003ygd.2	+	c.2051C>T	c.(2050-2052)ACT>ATT	p.T684I	TMEM67_uc003yga.2_Missense_Mutation_p.T613I|TMEM67_uc010maw.1_Missense_Mutation_p.T400I	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	694	Helical; (Potential).				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)													0.168142	73.397123	96.983624	38	188	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00896)		Missense_Mutation	SNP	94878855	94878855	16735	8	C	T	T	20	20	TMEM67	T	2	2
PDP1	54704	broad.mit.edu	36	8	95004260	95004260	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95004260G>A	uc003ygf.1	+	c.872G>A	c.(871-873)CGA>CAA	p.R291Q	PDP1_uc003yge.1_Missense_Mutation_p.R266Q|PDP1_uc003ygg.1_Missense_Mutation_p.R291Q|PDP1_uc010max.1_Missense_Mutation_p.R266Q	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehydrogenase phosphatase precursor	266					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.374074	262.134945	265.919405	101	169	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95004260	95004260	12106	8	G	A	A	37	37	PDP1	A	1	1
PDP1	54704	broad.mit.edu	36	8	95004852	95004852	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95004852A>C	uc003ygf.1	+	c.1464A>C	c.(1462-1464)ACA>ACC	p.T488T	PDP1_uc003yge.1_Silent_p.T463T|PDP1_uc003ygg.1_Silent_p.T488T|PDP1_uc010max.1_Silent_p.T463T	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehydrogenase phosphatase precursor	463					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.135338	87.284878	138.70216	54	345	AA		KEEP	---	---	---	---	capture			Silent	SNP	95004852	95004852	12106	8	A	C	C	7	7	PDP1	C	4	4
CDH17	1015	broad.mit.edu	36	8	95212125	95212125	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95212125A>G	uc003ygh.1	-	c.2303T>C	c.(2302-2304)GTG>GCG	p.V768A		NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	768	Cadherin 7.|Extracellular (Potential).					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)													0.109948	24.256814	52.996349	21	170	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00691)		Missense_Mutation	SNP	95212125	95212125	3231	8	A	G	G	6	6	CDH17	G	4	4
CDH17	1015	broad.mit.edu	36	8	95243511	95243511	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95243511G>T	uc003ygh.1	-	c.1338C>A	c.(1336-1338)ATC>ATA	p.I446I		NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	446	Extracellular (Potential).|Cadherin 4.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)													0.270408	119.874053	129.205134	53	143	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00691)		Silent	SNP	95243511	95243511	3231	8	G	T	T	41	41	CDH17	T	3	3
CDH17	1015	broad.mit.edu	36	8	95258001	95258001	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95258001C>T	uc003ygh.1	-	c.368G>A	c.(367-369)CGA>CAA	p.R123Q		NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	123	Extracellular (Potential).|Cadherin 1.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)													0.14841	61.137139	94.661783	42	241	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00691)		Missense_Mutation	SNP	95258001	95258001	3231	8	C	T	T	31	31	CDH17	T	1	1
GEM	2669	broad.mit.edu	36	8	95333551	95333551	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95333551C>T	uc003ygj.1	-	c.485G>A	c.(484-486)CGA>CAA	p.R162Q	GEM_uc003ygi.1_Missense_Mutation_p.R162Q	NM_005261	NP_859053	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	162					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding				0	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)				GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)								0.31295	215.837342	224.48939	87	191	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00691)		Missense_Mutation	SNP	95333551	95333551	6597	8	C	T	T	31	31	GEM	T	1	1
GEM	2669	broad.mit.edu	36	8	95341711	95341711	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95341711A>G	uc003ygj.1	-	c.197T>C	c.(196-198)GTC>GCC	p.V66A	GEM_uc003ygi.1_Missense_Mutation_p.V66A	NM_005261	NP_859053	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	66					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding				0	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)				GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)								0.166667	62.567734	80.904914	29	145	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00691)		Missense_Mutation	SNP	95341711	95341711	6597	8	A	G	G	10	10	GEM	G	4	4
KIAA1429	25962	broad.mit.edu	36	8	95577165	95577165	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95577165G>T	uc003ygo.1	-	c.4514C>A	c.(4513-4515)CCA>CAA	p.P1505Q	KIAA1429_uc010maz.1_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1505					mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)													0.126582	34.771214	67.034296	30	207	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00185)		Missense_Mutation	SNP	95577165	95577165	8540	8	G	T	T	47	47	KIAA1429	T	3	3
KIAA1429	25962	broad.mit.edu	36	8	95600458	95600458	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95600458A>G	uc003ygo.1	-	c.2444T>C	c.(2443-2445)GTT>GCT	p.V815A	KIAA1429_uc010maz.1_Non-coding_Transcript|KIAA1429_uc003ygp.1_Missense_Mutation_p.V815A	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	815					mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)													0.162963	99.044866	128.176367	44	226	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00185)		Missense_Mutation	SNP	95600458	95600458	8540	8	A	G	G	2	2	KIAA1429	G	4	4
KIAA1429	25962	broad.mit.edu	36	8	95607945	95607945	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95607945C>T	uc003ygo.1	-	c.1703G>A	c.(1702-1704)AGA>AAA	p.R568K	KIAA1429_uc010maz.1_Non-coding_Transcript|KIAA1429_uc003ygp.1_Missense_Mutation_p.R568K	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	568					mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)													0.302026	441.066044	460.084004	164	379	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00185)		Missense_Mutation	SNP	95607945	95607945	8540	8	C	T	T	32	32	KIAA1429	T	2	2
KIAA1429	25962	broad.mit.edu	36	8	95625309	95625309	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95625309A>G	uc003ygo.1	-	c.101T>C	c.(100-102)GTG>GCG	p.V34A	KIAA1429_uc003ygp.1_Missense_Mutation_p.V34A	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	34					mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)													0.29784	534.63514	558.378447	193	455	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00185)		Missense_Mutation	SNP	95625309	95625309	8540	8	A	G	G	6	6	KIAA1429	G	4	4
ESRP1	54845	broad.mit.edu	36	8	95746452	95746452	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95746452C>T	uc003ygq.2	+	c.877C>T	c.(877-879)CGG>TGG	p.R293W	ESRP1_uc003ygr.2_Missense_Mutation_p.R293W|ESRP1_uc003ygs.2_Missense_Mutation_p.R293W|ESRP1_uc003ygt.2_Missense_Mutation_p.R293W|ESRP1_uc003ygu.2_Missense_Mutation_p.R293W|ESRP1_uc003ygv.1_Missense_Mutation_p.R133W|ESRP1_uc003ygw.1_Missense_Mutation_p.R133W	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	293	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4														0.208633	61.101858	72.028318	29	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95746452	95746452	5451	8	C	T	T	23	23	ESRP1	T	1	1
ESRP1	54845	broad.mit.edu	36	8	95759664	95759664	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95759664C>A	uc003ygq.2	+	c.1709C>A	c.(1708-1710)GCT>GAT	p.A570D	ESRP1_uc003ygr.2_Missense_Mutation_p.A566D|ESRP1_uc003ygs.2_Missense_Mutation_p.A566D|ESRP1_uc003ygt.2_Missense_Mutation_p.A570D|ESRP1_uc003ygu.2_Missense_Mutation_p.A566D|ESRP1_uc003ygv.1_Missense_Mutation_p.A410D|ESRP1_uc003ygw.1_Missense_Mutation_p.A410D	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	570					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4														0.215827	61.564435	71.932227	30	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95759664	95759664	5451	8	C	A	A	28	28	ESRP1	A	3	3
PTDSS1	9791	broad.mit.edu	36	8	97385517	97385517	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:97385517C>T	uc003yht.1	+	c.826C>T	c.(826-828)CGA>TGA	p.R276*	PTDSS1_uc003yhu.1_Nonsense_Mutation_p.R130*	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	276					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)									0.477895	653.477431	653.679892	227	248	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	97385517	97385517	13190	8	C	T	T	31	31	PTDSS1	T	5	1
SDC2	6383	broad.mit.edu	36	8	97690948	97690948	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:97690948C>T	uc003yhv.1	+	c.602C>T	c.(601-603)GCG>GTG	p.A201V		NM_002998	NP_002989	P34741	SDC2_HUMAN	syndecan 2 precursor	201	Cytoplasmic (Potential).					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			ovary(2)	2	Breast(36;3.41e-05)				Sargramostim(DB00020)									0.462185	156.310777	156.458939	55	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97690948	97690948	14437	8	C	T	T	27	27	SDC2	T	1	1
MTDH	92140	broad.mit.edu	36	8	98726016	98726016	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:98726016C>T	uc003yhz.1	+	c.106C>T	c.(106-108)CTG>TTG	p.L36L		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	36	Activation of NF-kappa-B.|Lumenal (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)													0.253165	44.055911	48.431844	20	59	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.178)		Silent	SNP	98726016	98726016	10310	8	C	T	T	28	28	MTDH	T	2	2
MTDH	92140	broad.mit.edu	36	8	98726188	98726188	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:98726188C>T	uc003yhz.1	+	c.278C>T	c.(277-279)GCG>GTG	p.A93V		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	93	Interaction with BCCIP.|Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)													0.571429	41.058116	41.20195	16	12	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.178)		Missense_Mutation	SNP	98726188	98726188	10310	8	C	T	T	27	27	MTDH	T	1	1
MATN2	4147	broad.mit.edu	36	8	99108887	99108887	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:99108887T>A	uc003yic.1	+	c.2010T>A	c.(2008-2010)AAT>AAA	p.N670K	MATN2_uc010mbh.1_Missense_Mutation_p.N629K|MATN2_uc003yid.1_Missense_Mutation_p.N670K|MATN2_uc003yie.1_Missense_Mutation_p.N670K|MATN2_uc010mbi.1_Missense_Mutation_p.N503K|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	670	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)													0.172222	56.225452	74.491716	31	149	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.244)		Missense_Mutation	SNP	99108887	99108887	9718	8	T	A	A	52	52	MATN2	A	4	4
MATN2	4147	broad.mit.edu	36	8	99114512	99114512	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:99114512G>T	uc003yic.1	+	c.2648G>T	c.(2647-2649)AGA>ATA	p.R883I	MATN2_uc010mbh.1_Missense_Mutation_p.R842I|MATN2_uc003yid.1_Missense_Mutation_p.R864I|MATN2_uc003yie.1_Missense_Mutation_p.R883I|MATN2_uc010mbi.1_Missense_Mutation_p.R697I|MATN2_uc010mbj.1_Missense_Mutation_p.R244I|RPL30_uc010mbk.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	883						proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)													0.468085	59.940551	59.98265	22	25	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.244)		Missense_Mutation	SNP	99114512	99114512	9718	8	G	T	T	33	33	MATN2	T	3	3
POP1	10940	broad.mit.edu	36	8	99211526	99211526	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:99211526C>T	uc003yij.2	+	c.631C>T	c.(631-633)CGG>TGG	p.R211W	POP1_uc003yik.1_Missense_Mutation_p.R211W	NM_015029	NP_055844	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP	211					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)													0.463918	243.523256	243.743108	90	104	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.145)		Missense_Mutation	SNP	99211526	99211526	12680	8	C	T	T	27	27	POP1	T	1	1
NIPAL2	79815	broad.mit.edu	36	8	99333912	99333912	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:99333912C>T	uc003yil.1	-	c.331G>A	c.(331-333)GCT>ACT	p.A111T	NIPAL2_uc003yim.1_Missense_Mutation_p.A111T	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	111	Helical; (Potential).					integral to membrane					0														0.2	44.460267	55.362957	26	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99333912	99333912	10826	8	C	T	T	25	25	NIPAL2	T	2	2
KCNS2	3788	broad.mit.edu	36	8	99509573	99509573	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:99509573G>A	uc003yin.1	+	c.190G>A	c.(190-192)GAC>AAC	p.D64N	KCNS2_uc010mbl.1_Missense_Mutation_p.D64N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	64	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)					Pancreas(138;844 2489 9202 24627)								0.147368	38.170909	60.881023	28	162	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		Missense_Mutation	SNP	99509573	99509573	8394	8	G	A	A	37	37	KCNS2	A	1	1
KCNS2	3788	broad.mit.edu	36	8	99510050	99510050	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:99510050G>A	uc003yin.1	+	c.667G>A	c.(667-669)GAG>AAG	p.E223K	KCNS2_uc010mbl.1_Missense_Mutation_p.E223K	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	223	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)					Pancreas(138;844 2489 9202 24627)								0.217557	118.428368	137.706791	57	205	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		Missense_Mutation	SNP	99510050	99510050	8394	8	G	A	A	37	37	KCNS2	A	1	1
KCNS2	3788	broad.mit.edu	36	8	99510763	99510763	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:99510763G>A	uc003yin.1	+	c.1380G>A	c.(1378-1380)ACG>ACA	p.T460T	KCNS2_uc010mbl.1_Silent_p.T460T	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	460	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)					Pancreas(138;844 2489 9202 24627)								0.440758	262.23659	262.882952	93	118	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		Silent	SNP	99510763	99510763	8394	8	G	A	A	37	37	KCNS2	A	1	1
STK3	6788	broad.mit.edu	36	8	99661186	99661186	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:99661186A>C	uc003yio.1	-	c.914T>G	c.(913-915)TTT>TGT	p.F305C	STK3_uc003yip.1_Missense_Mutation_p.F277C|STK3_uc010mbm.1_Missense_Mutation_p.F166C	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3 (STE20 homolog,	277	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis|protein phosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(2)|ovary(1)	3	Breast(36;2.4e-06)	Breast(495;0.106)								180				0.216418	77.008448	86.944767	29	105	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	Missense_Mutation	SNP	99661186	99661186	15815	8	A	C	C	1	1	STK3	C	4	4
GABBR2	9568	broad.mit.edu	36	9	100092697	100092697	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100092697G>A	uc004ays.1	-	c.2816C>T	c.(2815-2817)TCG>TTG	p.S939L		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51	939	Cytoplasmic (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)	2		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)									0.206897	11.879189	14.155884	6	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100092697	100092697	6407	9	G	A	A	37	37	GABBR2	A	1	1
GABBR2	9568	broad.mit.edu	36	9	100101357	100101357	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100101357G>T	uc004ays.1	-	c.2512C>A	c.(2512-2514)CTC>ATC	p.L838I		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51	838	Cytoplasmic (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)	2		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)									0.177606	156.931129	207.719698	92	426	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100101357	100101357	6407	9	G	T	T	35	35	GABBR2	T	3	3
GABBR2	9568	broad.mit.edu	36	9	100283038	100283038	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100283038A>C	uc004ays.1	-	c.795T>G	c.(793-795)TGT>TGG	p.C265W		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51	265	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)	2		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)									0.210526	97.865934	112.638636	40	150	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100283038	100283038	6407	9	A	C	C	2	2	GABBR2	C	4	4
GABBR2	9568	broad.mit.edu	36	9	100510557	100510557	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100510557C>T	uc004ays.1	-	c.284G>A	c.(283-285)CGC>CAC	p.R95H		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51	95	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)	2		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)									0.210526	14.076104	17.027026	8	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100510557	100510557	6407	9	C	T	T	27	27	GABBR2	T	1	1
ANKS6	203286	broad.mit.edu	36	9	100582425	100582425	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100582425C>T	uc004ayu.1	-	c.1235G>A	c.(1234-1236)CGA>CAA	p.R412Q	ANKS6_uc004ayt.1_Missense_Mutation_p.R111Q|ANKS6_uc004ayv.1_5'Flank|ANKS6_uc004ayw.1_5'UTR|ANKS6_uc004ayx.1_Non-coding_Transcript|ANKS6_uc004ayy.1_Non-coding_Transcript	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	412	ANK 11.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)												0.269231	16.915052	18.163681	7	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100582425	100582425	700	9	C	T	T	31	31	ANKS6	T	1	1
GALNT12	79695	broad.mit.edu	36	9	100634032	100634032	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100634032C>T	uc004ayz.1	+	c.889C>T	c.(889-891)CGG>TGG	p.R297W		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	297	Lumenal (Potential).		R -> W (in CRCS1; germline mutation; partial loss of activity).			Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.223881	31.896498	36.588329	15	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100634032	100634032	6474	9	C	T	T	19	19	GALNT12	T	1	1
COL15A1	1306	broad.mit.edu	36	9	100807019	100807019	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100807019C>T	uc004azb.1	+	c.1219C>T	c.(1219-1221)CGT>TGT	p.R407C		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	407	Nonhelical region 1 (NC1).|1.|4 X tandem repeats.				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.213836	124.866539	148.954951	68	250	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100807019	100807019	3810	9	C	T	T	27	27	COL15A1	T	1	1
COL15A1	1306	broad.mit.edu	36	9	100842629	100842629	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100842629G>A	uc004azb.1	+	c.2481G>A	c.(2479-2481)CCG>CCA	p.P827P		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	827	Triple-helical region 4 (COL4).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.373259	369.999241	375.046272	134	225	GG		KEEP	---	---	---	---	capture			Silent	SNP	100842629	100842629	3810	9	G	A	A	39	39	COL15A1	A	1	1
COL15A1	1306	broad.mit.edu	36	9	100864090	100864090	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100864090A>C	uc004azb.1	+	c.3419A>C	c.(3418-3420)AAC>ACC	p.N1140T		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1140	Nonhelical region 10 (NC10).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.196078	143.331151	169.666517	60	246	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100864090	100864090	3810	9	A	C	C	2	2	COL15A1	C	4	4
NR4A3	8013	broad.mit.edu	36	9	101630367	101630367	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:101630367C>A	uc004bai.1	+	c.255C>A	c.(253-255)TCC>TCA	p.S85S	NR4A3_uc004bae.1_Silent_p.S74S|NR4A3_uc004baf.1_Silent_p.S74S|NR4A3_uc004bag.1_Silent_p.S74S|NR4A3_uc004bah.1_Silent_p.S74S	NM_173200	NP_775290	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	74					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)								86				0.212766	78.885642	93.232574	40	148	CC		KEEP	---	---	---	---	capture			Silent	SNP	101630367	101630367	11039	9	C	A	A	24	24	NR4A3	A	3	3
NR4A3	8013	broad.mit.edu	36	9	101646918	101646918	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:101646918T>A	uc004bai.1	+	c.1454T>A	c.(1453-1455)TTT>TAT	p.F485Y	NR4A3_uc004baf.1_Missense_Mutation_p.F474Y|NR4A3_uc004bag.1_Missense_Mutation_p.F474Y|NR4A3_uc004bah.1_Missense_Mutation_p.F474Y	NM_173200	NP_775290	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	474	Ligand-binding (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)								86				0.244898	78.122673	86.842639	36	111	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101646918	101646918	11039	9	T	A	A	64	64	NR4A3	A	4	4
INVS	27130	broad.mit.edu	36	9	102094742	102094742	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:102094742C>A	uc004bap.1	+	c.2382C>A	c.(2380-2382)CGC>CGA	p.R794R	INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Silent_p.R680R|INVS_uc010mtb.1_Silent_p.R468R	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	794					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)												0.248276	81.89945	90.289066	36	109	CC		KEEP	---	---	---	---	capture			Silent	SNP	102094742	102094742	8088	9	C	A	A	25	25	INVS	A	3	3
INVS	27130	broad.mit.edu	36	9	102094949	102094949	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:102094949G>T	uc004bap.1	+	c.2589G>T	c.(2587-2589)GAG>GAT	p.E863D	INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.E749D|INVS_uc010mtb.1_Missense_Mutation_p.E537D	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	863					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)												0.575163	238.660156	239.406573	88	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102094949	102094949	8088	9	G	T	T	33	33	INVS	T	3	3
TEX10	54881	broad.mit.edu	36	9	102105768	102105768	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:102105768C>T	uc004bas.1	-	c.2643G>A	c.(2641-2643)GCG>GCA	p.A881A		NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10	881						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0527)												0.215889	266.658876	309.790343	125	454	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.157)	Silent	SNP	102105768	102105768	16299	9	C	T	T	31	31	TEX10	T	1	1
C9orf30	91283	broad.mit.edu	36	9	102252920	102252920	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:102252920G>T	uc004baw.1	+	c.679G>T	c.(679-681)GAG>TAG	p.E227*	TMEFF1_uc004bay.1_Intron|C9orf30_uc004bax.1_Non-coding_Transcript	NM_080655	NP_542386	Q96H12	CI030_HUMAN	hypothetical protein LOC91283	227	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(62;0.0527)												0.703704	166.889966	169.890301	57	24	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	102252920	102252920	2593	9	G	T	T	33	33	C9orf30	T	5	3
C9orf30	91283	broad.mit.edu	36	9	102252982	102252982	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:102252982G>T	uc004baw.1	+	c.741G>T	c.(739-741)AAG>AAT	p.K247N	TMEFF1_uc004bay.1_Intron|C9orf30_uc004bax.1_Non-coding_Transcript	NM_080655	NP_542386	Q96H12	CI030_HUMAN	hypothetical protein LOC91283	247	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(62;0.0527)												0.554745	213.089136	213.443795	76	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102252982	102252982	2593	9	G	T	T	33	33	C9orf30	T	3	3
BAAT	570	broad.mit.edu	36	9	103170417	103170417	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103170417G>T	uc010mtd.1	-	c.475C>A	c.(475-477)CTC>ATC	p.L159I	BAAT_uc004bbd.2_Missense_Mutation_p.L159I	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	159					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)									0.232143	26.741512	30.425843	13	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103170417	103170417	1301	9	G	T	T	33	33	BAAT	T	3	3
ZNF189	7743	broad.mit.edu	36	9	103211036	103211036	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103211036C>T	uc004bbh.1	+	c.1165C>T	c.(1165-1167)CGT>TGT	p.R389C	ZNF189_uc004bbg.1_Missense_Mutation_p.R347C|ZNF189_uc004bbi.1_Missense_Mutation_p.R375C	NM_003452	NP_932094	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	389	C2H2-type 9.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)												0.177515	53.144898	69.707046	30	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103211036	103211036	18345	9	C	T	T	31	31	ZNF189	T	1	1
ZNF189	7743	broad.mit.edu	36	9	103211408	103211408	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103211408C>A	uc004bbh.1	+	c.1537C>A	c.(1537-1539)CTG>ATG	p.L513M	ZNF189_uc004bbg.1_Missense_Mutation_p.L471M|ZNF189_uc004bbi.1_Missense_Mutation_p.L499M	NM_003452	NP_932094	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	513	C2H2-type 13.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)												0.398773	169.421904	170.888299	65	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103211408	103211408	18345	9	C	A	A	32	32	ZNF189	A	3	3
ALDOB	229	broad.mit.edu	36	9	103232953	103232953	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103232953T>C	uc004bbk.1	-	c.38A>G	c.(37-39)AAG>AGG	p.K13R		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	13					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.663636	273.314907	275.924067	73	37	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103232953	103232953	511	9	T	C	C	56	56	ALDOB	C	4	4
C9orf125	84302	broad.mit.edu	36	9	103278614	103278614	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103278614G>A	uc004bbm.1	-	c.582C>T	c.(580-582)TGC>TGT	p.C194C	C9orf125_uc010mte.1_Silent_p.C194C	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	hypothetical protein LOC84302	194						integral to membrane					0		Acute lymphoblastic leukemia(62;0.0527)												0.238095	53.715152	60.30135	25	80	GG		KEEP	---	---	---	---	capture			Silent	SNP	103278614	103278614	2567	9	G	A	A	42	42	C9orf125	A	2	2
RNF20	56254	broad.mit.edu	36	9	103342418	103342418	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103342418G>A	uc004bbn.1	+	c.242G>A	c.(241-243)CGA>CAA	p.R81Q		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	81	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|regulation of gene-specific transcription|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)	7		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)												0.225256	143.91431	164.222246	66	227	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	Missense_Mutation	SNP	103342418	103342418	13951	9	G	A	A	37	37	RNF20	A	1	1
RNF20	56254	broad.mit.edu	36	9	103349003	103349003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103349003G>A	uc004bbn.1	+	c.828G>A	c.(826-828)TGG>TGA	p.W276*		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	276	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|regulation of gene-specific transcription|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)	7		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)												0.405941	250.507649	252.070707	82	120	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	Nonsense_Mutation	SNP	103349003	103349003	13951	9	G	A	A	43	43	RNF20	A	5	2
RNF20	56254	broad.mit.edu	36	9	103359613	103359613	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103359613G>T	uc004bbn.1	+	c.2296G>T	c.(2296-2298)GAG>TAG	p.E766*		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	766	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|regulation of gene-specific transcription|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)	7		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)												0.187919	49.498567	63.100676	28	121	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	Nonsense_Mutation	SNP	103359613	103359613	13951	9	G	T	T	33	33	RNF20	T	5	3
CYLC2	1539	broad.mit.edu	36	9	104806825	104806825	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:104806825G>T	uc004bbs.1	+	c.208G>T	c.(208-210)GAT>TAT	p.D70Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	70	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)												0.118519	13.291391	32.609632	16	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104806825	104806825	4307	9	G	T	T	33	33	CYLC2	T	3	3
CYLC2	1539	broad.mit.edu	36	9	104807479	104807479	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:104807479A>C	uc004bbs.1	+	c.745A>C	c.(745-747)AAA>CAA	p.K249Q		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	249	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)												0.228571	64.850132	71.941652	24	81	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104807479	104807479	4307	9	A	C	C	1	1	CYLC2	C	4	4
CYLC2	1539	broad.mit.edu	36	9	104807548	104807548	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:104807548A>C	uc004bbs.1	+	c.814A>C	c.(814-816)AAA>CAA	p.K272Q		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	272	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)												0.149254	21.408667	29.311159	10	57	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104807548	104807548	4307	9	A	C	C	9	9	CYLC2	C	4	4
SMC2	10592	broad.mit.edu	36	9	105918396	105918396	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:105918396A>G	uc004bbv.1	+	c.1766A>G	c.(1765-1767)GAA>GGA	p.E589G	SMC2_uc004bbu.1_Missense_Mutation_p.E589G|SMC2_uc004bbw.1_Missense_Mutation_p.E589G|SMC2_uc004bbx.1_Missense_Mutation_p.E589G	NM_001042551	NP_006435	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	589	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|lung(1)|breast(1)	8										1437				0.231481	69.027624	76.154945	25	83	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105918396	105918396	15281	9	A	G	G	9	9	SMC2	G	4	4
OR13F1	138805	broad.mit.edu	36	9	106307241	106307241	+	Missense_Mutation	SNP	C	T	T	rs7858601	by-hapmap	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106307241C>T	uc004bbz.1	+	c.877C>T	c.(877-879)CGG>TGG	p.R293W		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.217647	75.178056	87.68039	37	133	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106307241	106307241	11347	9	C	T	T	19	19	OR13F1	T	1	1
OR13C3	138803	broad.mit.edu	36	9	106338040	106338040	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106338040C>T	uc004bcb.1	-	c.876G>A	c.(874-876)CCG>CCA	p.P292P		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	292	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						GBM(86;1248 1274 14222 15028 46219)								0.644366	559.378802	564.59002	183	101	CC		KEEP	---	---	---	---	capture			Silent	SNP	106338040	106338040	11341	9	C	T	T	31	31	OR13C3	T	1	1
OR13C8	138802	broad.mit.edu	36	9	106371574	106371574	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106371574T>G	uc004bcc.1	+	c.305T>G	c.(304-306)TTT>TGT	p.F102C		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.230769	172.007782	191.002564	66	220	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106371574	106371574	11344	9	T	G	G	64	64	OR13C8	G	4	4
OR13C8	138802	broad.mit.edu	36	9	106372164	106372164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106372164C>T	uc004bcc.1	+	c.895C>T	c.(895-897)CGA>TGA	p.R299*		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.202073	77.465171	93.348459	39	154	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	106372164	106372164	11344	9	C	T	T	27	27	OR13C8	T	5	1
OR13C2	392376	broad.mit.edu	36	9	106407365	106407365	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106407365C>T	uc004bce.1	-	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.221757	110.379674	127.387121	53	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106407365	106407365	11340	9	C	T	T	27	27	OR13C2	T	1	1
OR13D1	286365	broad.mit.edu	36	9	106496802	106496802	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106496802C>A	uc004bcg.1	+	c.279C>A	c.(277-279)TTC>TTA	p.F93L		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	93	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.244202	383.797212	427.558694	179	554	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106496802	106496802	11346	9	C	A	A	32	32	OR13D1	A	3	3
OR13D1	286365	broad.mit.edu	36	9	106497269	106497269	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106497269C>T	uc004bcg.1	+	c.746C>T	c.(745-747)TCC>TTC	p.S249F		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	249	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.233677	152.42691	171.340362	68	223	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106497269	106497269	11346	9	C	T	T	30	30	OR13D1	T	2	2
OR13D1	286365	broad.mit.edu	36	9	106497518	106497518	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106497518C>T	uc004bcg.1	+	c.995C>T	c.(994-996)GCT>GTT	p.A332V		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	332	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.27451	109.777164	116.788826	42	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106497518	106497518	11346	9	C	T	T	28	28	OR13D1	T	2	2
ABCA1	19	broad.mit.edu	36	9	106602067	106602067	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106602067C>T	uc004bcl.1	-	c.4797G>A	c.(4795-4797)TGG>TGA	p.W1599*		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1599	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.234483	79.274421	88.628699	34	111	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.023)	Nonsense_Mutation	SNP	106602067	106602067	29	9	C	T	T	26	26	ABCA1	T	5	2
ABCA1	19	broad.mit.edu	36	9	106614724	106614724	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106614724C>T	uc004bcl.1	-	c.4002G>A	c.(4000-4002)TGG>TGA	p.W1334*		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1334					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.229268	104.307493	118.095952	47	158	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.023)	Nonsense_Mutation	SNP	106614724	106614724	29	9	C	T	T	30	30	ABCA1	T	5	2
ABCA1	19	broad.mit.edu	36	9	106619489	106619489	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106619489C>A	uc004bcl.1	-	c.3480G>T	c.(3478-3480)CAG>CAT	p.Q1160H		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1160					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.4	109.816852	110.738336	42	63	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.023)	Missense_Mutation	SNP	106619489	106619489	29	9	C	A	A	32	32	ABCA1	A	3	3
ABCA1	19	broad.mit.edu	36	9	106622080	106622080	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106622080C>T	uc004bcl.1	-	c.3052G>A	c.(3052-3054)GAT>AAT	p.D1018N		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1018	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.258258	206.897302	224.53041	86	247	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.023)	Missense_Mutation	SNP	106622080	106622080	29	9	C	T	T	30	30	ABCA1	T	2	2
ABCA1	19	broad.mit.edu	36	9	106663903	106663903	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106663903C>A	uc004bcl.1	-	c.422_splice	c.e6-1	p.N141_splice	ABCA1_uc004bcm.2_Intron	NM_005502	NP_005493			ATP-binding cassette, sub-family A member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.18543	46.820182	60.829774	28	123	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.023)	Splice_Site_SNP	SNP	106663903	106663903	29	9	C	A	A	32	32	ABCA1	A	5	3
SLC44A1	23446	broad.mit.edu	36	9	107160488	107160488	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:107160488G>A	uc004bcn.1	+	c.713G>A	c.(712-714)AGA>AAA	p.R238K	SLC44A1_uc010mtk.1_Missense_Mutation_p.R238K|SLC44A1_uc004bco.1_Missense_Mutation_p.R30K	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	238	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)									0.173633	108.355311	139.63061	54	257	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107160488	107160488	15132	9	G	A	A	33	33	SLC44A1	A	2	2
ZNF462	58499	broad.mit.edu	36	9	108728815	108728815	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:108728815G>T	uc004bcz.1	+	c.2801G>T	c.(2800-2802)AGC>ATC	p.S934I	ZNF462_uc010mto.1_Missense_Mutation_p.S782I|ZNF462_uc004bda.1_Missense_Mutation_p.S782I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	934	C2H2-type 9.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.196347	85.58665	104.417066	43	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108728815	108728815	18519	9	G	T	T	34	34	ZNF462	T	3	3
ZNF462	58499	broad.mit.edu	36	9	108729509	108729509	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:108729509C>T	uc004bcz.1	+	c.3495C>T	c.(3493-3495)GGC>GGT	p.G1165G	ZNF462_uc010mto.1_Silent_p.G1013G|ZNF462_uc004bda.1_Silent_p.G1013G	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1165					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.681818	606.610649	615.694446	210	98	CC		KEEP	---	---	---	---	capture			Silent	SNP	108729509	108729509	18519	9	C	T	T	28	28	ZNF462	T	2	2
ZNF462	58499	broad.mit.edu	36	9	108730922	108730922	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:108730922G>T	uc004bcz.1	+	c.4908G>T	c.(4906-4908)GAG>GAT	p.E1636D	ZNF462_uc010mto.1_Missense_Mutation_p.E1484D|ZNF462_uc004bda.1_Missense_Mutation_p.E1484D	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1636					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.228448	111.941265	127.649291	53	179	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108730922	108730922	18519	9	G	T	T	35	35	ZNF462	T	3	3
ZNF462	58499	broad.mit.edu	36	9	108805480	108805480	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:108805480G>A	uc004bcz.1	+	c.7141G>A	c.(7141-7143)GAT>AAT	p.D2381N	ZNF462_uc010mto.1_Missense_Mutation_p.D2290N|ZNF462_uc004bda.1_Missense_Mutation_p.D2289N	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2381					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.221429	66.448792	76.449909	31	109	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108805480	108805480	18519	9	G	A	A	37	37	ZNF462	A	1	1
RAD23B	5887	broad.mit.edu	36	9	109120913	109120913	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:109120913G>T	uc004bde.1	+	c.613G>T	c.(613-615)GAG>TAG	p.E205*		NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	205	UBA 1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1														0.216	103.99295	122.623335	54	196	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	109120913	109120913	13443	9	G	T	T	33	33	RAD23B	T	5	3
ACTL7B	10880	broad.mit.edu	36	9	110657623	110657623	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110657623C>T	uc004bdi.1	-	c.409G>A	c.(409-411)GCC>ACC	p.A137T		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	137						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1														0.260417	54.925694	59.920144	25	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110657623	110657623	202	9	C	T	T	27	27	ACTL7B	T	1	1
ACTL7B	10880	broad.mit.edu	36	9	110657774	110657774	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110657774C>T	uc004bdi.1	-	c.258G>A	c.(256-258)GCG>GCA	p.A86A		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	86						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1														0.649746	382.935273	386.849084	128	69	CC		KEEP	---	---	---	---	capture			Silent	SNP	110657774	110657774	202	9	C	T	T	23	23	ACTL7B	T	1	1
ACTL7A	10881	broad.mit.edu	36	9	110664774	110664774	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110664774C>T	uc004bdj.1	+	c.351C>T	c.(349-351)TTC>TTT	p.F117F		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	117						cytoplasm|cytoskeleton	structural constituent of cytoskeleton				0						Esophageal Squamous(177;1480 3591 17554)								0.641975	154.914616	156.353375	52	29	CC		KEEP	---	---	---	---	capture			Silent	SNP	110664774	110664774	201	9	C	T	T	31	31	ACTL7A	T	1	1
ACTL7A	10881	broad.mit.edu	36	9	110664966	110664966	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110664966G>T	uc004bdj.1	+	c.543G>T	c.(541-543)GAG>GAT	p.E181D		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	181						cytoplasm|cytoskeleton	structural constituent of cytoskeleton				0						Esophageal Squamous(177;1480 3591 17554)								0.163842	44.154473	63.168385	29	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110664966	110664966	201	9	G	T	T	33	33	ACTL7A	T	3	3
ACTL7A	10881	broad.mit.edu	36	9	110665317	110665317	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110665317G>A	uc004bdj.1	+	c.894G>A	c.(892-894)ACG>ACA	p.T298T		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	298						cytoplasm|cytoskeleton	structural constituent of cytoskeleton				0						Esophageal Squamous(177;1480 3591 17554)								0.646259	285.350013	288.120164	95	52	GG		KEEP	---	---	---	---	capture			Silent	SNP	110665317	110665317	201	9	G	A	A	37	37	ACTL7A	A	1	1
IKBKAP	8518	broad.mit.edu	36	9	110696079	110696079	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110696079C>T	uc004bdm.2	-	c.2825G>A	c.(2824-2826)CGA>CAA	p.R942Q	IKBKAP_uc004bdk.1_5'Flank|IKBKAP_uc010mtp.1_5'Flank|IKBKAP_uc004bdl.1_Missense_Mutation_p.R593Q|IKBKAP_uc010mtq.1_Missense_Mutation_p.R593Q	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	942					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)|breast(1)|kidney(1)	6														0.621429	264.547791	266.357942	87	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110696079	110696079	7911	9	C	T	T	31	31	IKBKAP	T	1	1
IKBKAP	8518	broad.mit.edu	36	9	110731986	110731986	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110731986G>A	uc004bdm.2	-	c.187C>T	c.(187-189)CTC>TTC	p.L63F	IKBKAP_uc010mtq.1_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	63					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)|breast(1)|kidney(1)	6														0.268293	137.423521	147.366446	55	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110731986	110731986	7911	9	G	A	A	33	33	IKBKAP	A	2	2
C9orf6	54942	broad.mit.edu	36	9	110738520	110738520	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110738520C>T	uc004bdn.1	+	c.243C>T	c.(241-243)GTC>GTT	p.V81V	IKBKAP_uc004bdm.2_5'Flank|IKBKAP_uc010mtq.1_5'Flank|C9orf6_uc010mtr.1_Intron	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	hypothetical protein LOC54942	81					glycine catabolic process	glycine cleavage complex				pancreas(1)	1		Myeloproliferative disorder(63;0.0511)												0.647436	653.921117	659.895533	202	110	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)	Silent	SNP	110738520	110738520	2604	9	C	T	T	32	32	C9orf6	T	2	2
CTNNAL1	8727	broad.mit.edu	36	9	110781422	110781422	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110781422C>T	uc004bdo.1	-	c.1061G>A	c.(1060-1062)AGA>AAA	p.R354K	CTNNAL1_uc010mts.1_Missense_Mutation_p.R90K|CTNNAL1_uc010mtt.1_Missense_Mutation_p.R354K|CTNNAL1_uc004bdp.1_Missense_Mutation_p.R354K	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	354					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1														0.219731	112.643744	128.786732	49	174	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(157;0.0768)	Missense_Mutation	SNP	110781422	110781422	4174	9	C	T	T	32	32	CTNNAL1	T	2	2
EPB41L4B	54566	broad.mit.edu	36	9	111019161	111019161	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111019161C>T	uc004bdz.1	-	c.1495G>A	c.(1495-1497)GCA>ACA	p.A499T		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	499						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2														0.255034	83.791662	91.898908	38	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111019161	111019161	5349	9	C	T	T	27	27	EPB41L4B	T	1	1
PTPN3	5774	broad.mit.edu	36	9	111183756	111183756	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111183756T>C	uc004bed.1	-	c.2661A>G	c.(2659-2661)ACA>ACG	p.T887T	PTPN3_uc004beb.1_Silent_p.T756T|PTPN3_uc004bec.1_Silent_p.T711T|PTPN3_uc010mtu.1_Non-coding_Transcript	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	887	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3														0.218905	106.209946	120.830026	44	157	TT		KEEP	---	---	---	---	capture			Silent	SNP	111183756	111183756	13246	9	T	C	C	51	51	PTPN3	C	4	4
PTPN3	5774	broad.mit.edu	36	9	111212474	111212474	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111212474C>A	uc004bed.1	-	c.1356G>T	c.(1354-1356)CAG>CAT	p.Q452H	PTPN3_uc004beb.1_Missense_Mutation_p.Q321H|PTPN3_uc004bec.1_Missense_Mutation_p.Q276H|PTPN3_uc010mtu.1_Non-coding_Transcript|PTPN3_uc010mtv.1_5'UTR	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	452					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3														0.217949	100.780589	117.960565	51	183	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111212474	111212474	13246	9	C	A	A	32	32	PTPN3	A	3	3
PTPN3	5774	broad.mit.edu	36	9	111256660	111256660	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111256660G>A	uc004bed.1	-	c.305C>T	c.(304-306)ACC>ATC	p.T102I	PTPN3_uc004bee.2_3'UTR|PTPN3_uc010mtu.1_Non-coding_Transcript	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	102	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3														0.149466	60.449105	93.587396	42	239	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111256660	111256660	13246	9	G	A	A	44	44	PTPN3	A	2	2
PALM2-AKAP2	445815	broad.mit.edu	36	9	111818101	111818101	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111818101G>A	uc004bei.2	+	c.1239G>A	c.(1237-1239)TCG>TCA	p.S413S	PALM2-AKAP2_uc004bek.2_Silent_p.S181S|PALM2-AKAP2_uc004bej.2_Silent_p.S181S|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001004065	NP_001004065	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 1	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)	5														0.2	30.081439	36.36124	15	60	GG		KEEP	---	---	---	---	capture			Silent	SNP	111818101	111818101	11826	9	G	A	A	37	37	PALM2-AKAP2	A	1	1
SVEP1	79987	broad.mit.edu	36	9	112245802	112245802	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:112245802C>T	uc010mtz.1	-	c.4483G>A	c.(4483-4485)GGC>AGC	p.G1495S	SVEP1_uc010mua.1_Missense_Mutation_p.G1495S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1495	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.127273	11.1853	18.636913	7	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112245802	112245802	15940	9	C	T	T	21	21	SVEP1	T	2	2
SVEP1	79987	broad.mit.edu	36	9	112273535	112273535	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:112273535G>A	uc010mtz.1	-	c.2928C>T	c.(2926-2928)AGC>AGT	p.S976S	SVEP1_uc010mua.1_Silent_p.S976S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	976					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.135135	17.851892	32.176232	15	96	GG		KEEP	---	---	---	---	capture			Silent	SNP	112273535	112273535	15940	9	G	A	A	46	46	SVEP1	A	2	2
MUSK	4593	broad.mit.edu	36	9	112589939	112589939	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:112589939G>T	uc004bey.2	+	c.1927G>T	c.(1927-1929)GGA>TGA	p.G643*	MUSK_uc004bez.1_Nonsense_Mutation_p.G223*	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	643	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|lung(2)|central_nervous_system(1)	5										297				0.209302	18.348837	21.714943	9	34	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	112589939	112589939	10383	9	G	T	T	35	35	MUSK	T	5	3
LPAR1	1902	broad.mit.edu	36	9	112677816	112677816	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:112677816A>G	uc004bfa.1	-	c.801T>C	c.(799-801)TTT>TTC	p.F267F	LPAR1_uc004bfb.1_Silent_p.F267F|LPAR1_uc004bfc.1_Silent_p.F267F|LPAR1_uc010mub.1_Silent_p.F267F	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	267	Helical; Name=6; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						NSCLC(115;661 2323 9836 34256)								0.627907	196.477195	197.715953	54	32	AA		KEEP	---	---	---	---	capture			Silent	SNP	112677816	112677816	9277	9	A	G	G	13	13	LPAR1	G	4	4
KIAA0368	23392	broad.mit.edu	36	9	113188488	113188488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:113188488G>A	uc004bfe.1	-	c.4051C>T	c.(4051-4053)CGA>TGA	p.R1351*		NM_001080398	NP_001073867			KIAA0368 protein												0														0.57377	104.228718	104.51761	35	26	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	113188488	113188488	8478	9	G	A	A	37	37	KIAA0368	A	5	1
KIAA0368	23392	broad.mit.edu	36	9	113214216	113214216	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:113214216C>T	uc004bfe.1	-	c.2647G>A	c.(2647-2649)GAA>AAA	p.E883K		NM_001080398	NP_001073867			KIAA0368 protein												0														0.315789	15.74265	16.31641	6	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113214216	113214216	8478	9	C	T	T	31	31	KIAA0368	T	1	1
ZNF483	158399	broad.mit.edu	36	9	113345225	113345225	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:113345225G>T	uc004bff.2	+	c.2189G>T	c.(2188-2190)AGT>ATT	p.S730I	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	730	C2H2-type 11.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.201031	86.209129	102.333265	39	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113345225	113345225	18530	9	G	T	T	36	36	ZNF483	T	3	3
C9orf84	158401	broad.mit.edu	36	9	113508839	113508839	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:113508839G>A	uc004bfr.1	-	c.2375C>T	c.(2374-2376)TCC>TTC	p.S792F	C9orf84_uc004bfq.1_Missense_Mutation_p.S753F|C9orf84_uc010mug.1_Missense_Mutation_p.S703F	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	792										ovary(2)	2														0.202247	145.789796	175.125311	72	284	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113508839	113508839	2616	9	G	A	A	41	41	C9orf84	A	2	2
SUSD1	64420	broad.mit.edu	36	9	113959630	113959630	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:113959630A>G	uc004bfu.1	-	c.188T>C	c.(187-189)TTT>TCT	p.F63S	SUSD1_uc010mui.1_Missense_Mutation_p.F63S|SUSD1_uc010muj.1_Missense_Mutation_p.F63S	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	63	EGF-like 1.|Extracellular (Potential).					integral to membrane	calcium ion binding				0														0.193182	45.330232	53.056686	17	71	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113959630	113959630	15927	9	A	G	G	1	1	SUSD1	G	4	4
HSDL2	84263	broad.mit.edu	36	9	114207772	114207772	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:114207772G>A	uc004bga.1	+	c.229G>A	c.(229-231)GAT>AAT	p.D77N	HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Missense_Mutation_p.D77N	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	77					oxidation-reduction process	peroxisome	oxidoreductase activity|sterol binding				0														0.229839	133.132513	149.738302	57	191	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114207772	114207772	7689	9	G	A	A	33	33	HSDL2	A	2	2
HSDL2	84263	broad.mit.edu	36	9	114243833	114243833	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:114243833A>C	uc004bga.1	+	c.827A>C	c.(826-828)GAA>GCA	p.E276A	HSDL2_uc004bgb.1_Missense_Mutation_p.E110A|HSDL2_uc004bgc.1_Missense_Mutation_p.E203A	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	276					oxidation-reduction process	peroxisome	oxidoreductase activity|sterol binding				0														0.215686	87.398687	98.806052	33	120	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114243833	114243833	7689	9	A	C	C	9	9	HSDL2	C	4	4
SLC46A2	57864	broad.mit.edu	36	9	114692157	114692157	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:114692157G>A	uc004bgk.1	-	c.626C>T	c.(625-627)ACG>ATG	p.T209M		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	209	Helical; Name=6; (Potential).				response to antibiotic	integral to membrane|plasma membrane	symporter activity|tetracycline:hydrogen antiporter activity			central_nervous_system(1)	1														0.206897	34.200986	41.132876	18	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114692157	114692157	15142	9	G	A	A	40	40	SLC46A2	A	1	1
ZFP37	7539	broad.mit.edu	36	9	114845109	114845109	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:114845109C>A	uc004bgm.1	-	c.1610G>T	c.(1609-1611)AGA>ATA	p.R537I		NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	537	C2H2-type 9.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.20398	77.543762	93.913518	41	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114845109	114845109	18236	9	C	A	A	32	32	ZFP37	A	3	3
FKBP15	23307	broad.mit.edu	36	9	115005137	115005137	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115005137C>A	uc004bgs.2	-	c.325_splice	c.e5-1	p.Y109_splice	FKBP15_uc010mut.1_Splice_Site_SNP|FKBP15_uc010muu.1_Splice_Site_SNP_p.Y173_splice|FKBP15_uc004bgt.2_Splice_Site_SNP_p.Y109_splice	NM_015258	NP_056073			FK506 binding protein 15, 133kDa						endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3														0.756098	95.038434	97.486439	31	10	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	115005137	115005137	6143	9	C	A	A	20	20	FKBP15	A	5	3
PRPF4	9128	broad.mit.edu	36	9	115081231	115081231	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115081231A>C	uc004bgx.1	+	c.394A>C	c.(394-396)AGG>CGG	p.R132R	PRPF4_uc004bgy.1_Silent_p.R131R	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	132					nuclear mRNA splicing, via spliceosome	Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3														0.210191	69.881905	82.089244	33	124	AA		KEEP	---	---	---	---	capture			Silent	SNP	115081231	115081231	13013	9	A	C	C	3	3	PRPF4	C	4	4
PRPF4	9128	broad.mit.edu	36	9	115092820	115092820	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115092820C>T	uc004bgx.1	+	c.1168C>T	c.(1168-1170)CGA>TGA	p.R390*	PRPF4_uc004bgy.1_Nonsense_Mutation_p.R389*	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	390	WD 4.				nuclear mRNA splicing, via spliceosome	Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3														0.23	98.14323	111.514548	46	154	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	115092820	115092820	13013	9	C	T	T	31	31	PRPF4	T	5	1
POLE3	54107	broad.mit.edu	36	9	115210939	115210939	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115210939C>A	uc004bhn.1	-	c.417G>T	c.(415-417)CAG>CAT	p.Q139H		NM_017443	NP_059139	Q9NRF9	DPOE3_HUMAN	DNA polymerase epsilon subunit 3	139	Potential.				DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding				0														0.461538	111.325264	111.443865	42	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115210939	115210939	12626	9	C	A	A	32	32	POLE3	A	3	3
POLE3	54107	broad.mit.edu	36	9	115211823	115211823	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115211823G>C	uc004bhn.1	-	c.159C>G	c.(157-159)AAC>AAG	p.N53K		NM_017443	NP_059139	Q9NRF9	DPOE3_HUMAN	DNA polymerase epsilon subunit 3	53					DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding				0														0.231293	96.974082	106.697183	34	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115211823	115211823	12626	9	G	C	C	48	48	POLE3	C	3	3
RGS3	5998	broad.mit.edu	36	9	115319664	115319664	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115319664C>T	uc004bhq.1	+	c.1697C>T	c.(1696-1698)GCC>GTC	p.A566V	RGS3_uc004bhr.1_Missense_Mutation_p.A454V|RGS3_uc004bhs.1_Missense_Mutation_p.A456V|RGS3_uc004bht.1_Missense_Mutation_p.A285V|RGS3_uc010muy.1_Missense_Mutation_p.A285V|RGS3_uc004bhu.1_Missense_Mutation_p.A192V	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	566					inactivation of MAPK activity|negative regulation of signal transduction|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														0.168142	60.402177	84.001401	38	188	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115319664	115319664	13780	9	C	T	T	26	26	RGS3	T	2	2
RGS3	5998	broad.mit.edu	36	9	115386075	115386075	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115386075C>T	uc004bhq.1	+	c.2562C>T	c.(2560-2562)TTC>TTT	p.F854F	RGS3_uc004bhs.1_Silent_p.F744F|RGS3_uc004bht.1_Silent_p.F573F|RGS3_uc010muy.1_Intron|RGS3_uc004bhv.1_Silent_p.F175F|RGS3_uc010muz.1_Silent_p.F193F|RGS3_uc004bhw.1_Intron|RGS3_uc010mva.1_Silent_p.F175F|RGS3_uc004bhx.1_Silent_p.F175F|RGS3_uc004bhy.1_Silent_p.F164F|RGS3_uc004bhz.1_Silent_p.F196F	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	854					inactivation of MAPK activity|negative regulation of signal transduction|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														0.271084	106.111911	113.951837	45	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	115386075	115386075	13780	9	C	T	T	31	31	RGS3	T	1	1
COL27A1	85301	broad.mit.edu	36	9	115969793	115969793	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115969793T>G	uc004bih.1	+	c.137T>G	c.(136-138)GTG>GGG	p.V46G	COL27A1_uc010mvd.1_5'UTR|COL27A1_uc004bii.1_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	46	TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.203857	178.266798	207.812927	74	289	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115969793	115969793	3823	9	T	G	G	59	59	COL27A1	G	4	4
COL27A1	85301	broad.mit.edu	36	9	116084606	116084606	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116084606G>T	uc004bih.1	+	c.3820G>T	c.(3820-3822)GAC>TAC	p.D1274Y	COL27A1_uc004bii.1_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1274	Pro-rich.|Collagen-like 11.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.722222	37.778451	38.576768	13	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116084606	116084606	3823	9	G	T	T	33	33	COL27A1	T	3	3
COL27A1	85301	broad.mit.edu	36	9	116102185	116102185	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116102185G>T	uc004bih.1	+	c.4599G>T	c.(4597-4599)GAG>GAT	p.E1533D	COL27A1_uc004bii.1_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1533	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.637755	361.989949	365.253907	125	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116102185	116102185	3823	9	G	T	T	33	33	COL27A1	T	3	3
COL27A1	85301	broad.mit.edu	36	9	116102731	116102731	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116102731G>A	uc004bih.1	+	c.4644G>A	c.(4642-4644)CCG>CCA	p.P1548P	COL27A1_uc004bii.1_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1548	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.126316	10.032114	23.010299	12	83	GG		KEEP	---	---	---	---	capture			Silent	SNP	116102731	116102731	3823	9	G	A	A	38	38	COL27A1	A	1	1
COL27A1	85301	broad.mit.edu	36	9	116111556	116111556	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116111556G>A	uc004bih.1	+	c.5413G>A	c.(5413-5415)GAG>AAG	p.E1805K	COL27A1_uc004bii.1_Non-coding_Transcript|COL27A1_uc004bij.1_Missense_Mutation_p.E120K	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1805	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.273684	62.009862	66.393958	26	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116111556	116111556	3823	9	G	A	A	37	37	COL27A1	A	1	1
ORM1	5004	broad.mit.edu	36	9	116126911	116126911	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116126911G>A	uc004bik.2	+	c.349G>A	c.(349-351)GCT>ACT	p.A117T		NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	117					acute-phase response|regulation of immune system process	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)									0.310078	97.665509	101.803978	40	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116126911	116126911	11678	9	G	A	A	38	38	ORM1	A	1	1
ORM1	5004	broad.mit.edu	36	9	116127212	116127212	+	Missense_Mutation	SNP	C	T	T	rs3182034	by-frequency	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116127212C>T	uc004bik.2	+	c.499C>T	c.(499-501)CGC>TGC	p.R167C		NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	167					acute-phase response|regulation of immune system process	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)									0.211538	67.987261	79.99403	33	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116127212	116127212	11678	9	C	T	T	27	27	ORM1	T	1	1
DFNB31	25861	broad.mit.edu	36	9	116280855	116280855	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116280855C>A	uc004biz.2	-	c.636G>T	c.(634-636)AAG>AAT	p.K212N	DFNB31_uc004biy.2_5'UTR|DFNB31_uc004bja.2_Missense_Mutation_p.K212N|DFNB31_uc004bjb.2_Missense_Mutation_p.K212N	NM_015404	NP_001077354	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	212	PDZ 1.				inner ear receptor stereocilium organization|response to stimulus|retina homeostasis|sensory perception of sound|visual perception	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.245902	31.789459	35.38067	15	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116280855	116280855	4634	9	C	A	A	32	32	DFNB31	A	3	3
ATP6V1G1	9550	broad.mit.edu	36	9	116394739	116394739	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116394739G>A	uc004bjc.1	+	c.169G>A	c.(169-171)GCC>ACC	p.A57T		NM_004888	NP_004879	O75348	VATG1_HUMAN	vacuolar H+ ATPase G1	57					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances				0														0.3125	12.830385	13.298888	5	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116394739	116394739	1205	9	G	A	A	42	42	ATP6V1G1	A	2	2
TNFSF8	944	broad.mit.edu	36	9	116706181	116706181	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116706181C>T	uc004bji.1	-	c.556G>A	c.(556-558)GTA>ATA	p.V186I		NM_001244	NP_001235	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily,	186	Extracellular (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			lung(3)|ovary(1)	4														0.217054	110.768414	129.818489	56	202	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116706181	116706181	16852	9	C	T	T	19	19	TNFSF8	T	1	1
TNC	3371	broad.mit.edu	36	9	116837331	116837331	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116837331G>T	uc004bjj.2	-	c.5760C>A	c.(5758-5760)GTC>GTA	p.V1920V	TNC_uc010mvf.1_Silent_p.V1647V	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1920	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.22973	139.721564	159.569551	68	228	GG		KEEP	---	---	---	---	capture			Silent	SNP	116837331	116837331	16811	9	G	T	T	33	33	TNC	T	3	3
TNC	3371	broad.mit.edu	36	9	116866096	116866096	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116866096G>T	uc004bjj.2	-	c.3560C>A	c.(3559-3561)GCT>GAT	p.A1187D	TNC_uc010mvf.1_Missense_Mutation_p.A1187D	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1187	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.685096	861.954325	874.613169	285	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116866096	116866096	16811	9	G	T	T	34	34	TNC	T	3	3
TNC	3371	broad.mit.edu	36	9	116878621	116878621	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116878621G>A	uc004bjj.2	-	c.2729C>T	c.(2728-2730)ACC>ATC	p.T910I	TNC_uc010mvf.1_Missense_Mutation_p.T910I	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	910	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.62516	1478.600834	1489.291428	487	292	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116878621	116878621	16811	9	G	A	A	44	44	TNC	A	2	2
TNC	3371	broad.mit.edu	36	9	116880211	116880211	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116880211T>C	uc004bjj.2	-	c.2506A>G	c.(2506-2508)ACC>GCC	p.T836A	TNC_uc010mvf.1_Missense_Mutation_p.T836A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	836	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.164179	45.856568	60.241316	22	112	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116880211	116880211	16811	9	T	C	C	58	58	TNC	C	4	4
TNC	3371	broad.mit.edu	36	9	116884863	116884863	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116884863T>C	uc004bjj.2	-	c.2176A>G	c.(2176-2178)ACA>GCA	p.T726A	TNC_uc010mvf.1_Missense_Mutation_p.T726A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	726	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.240876	89.378386	97.806087	33	104	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116884863	116884863	16811	9	T	C	C	58	58	TNC	C	4	4
TNC	3371	broad.mit.edu	36	9	116888336	116888336	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116888336G>A	uc004bjj.2	-	c.1495C>T	c.(1495-1497)CGC>TGC	p.R499C	TNC_uc010mvf.1_Missense_Mutation_p.R499C	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	499	EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.256098	193.373718	211.053285	84	244	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116888336	116888336	16811	9	G	A	A	37	37	TNC	A	1	1
PAPPA	5069	broad.mit.edu	36	9	117989371	117989371	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:117989371G>A	uc004bjn.1	+	c.533G>A	c.(532-534)CGA>CAA	p.R178Q		NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	178					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|pancreas(1)	5										611				0.427711	192.589018	193.346769	71	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117989371	117989371	11849	9	G	A	A	37	37	PAPPA	A	1	1
PAPPA	5069	broad.mit.edu	36	9	118133351	118133351	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:118133351G>A	uc004bjn.1	+	c.3155G>A	c.(3154-3156)CGA>CAA	p.R1052Q		NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1052					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|pancreas(1)	5									p.R1052L(KYSE30-Tumor)|p.R1052Q(JHUEM7-Tumor)	611				0.118812	11.332101	25.74481	12	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118133351	118133351	11849	9	G	A	A	37	37	PAPPA	A	1	1
ASTN2	23245	broad.mit.edu	36	9	118943437	118943437	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:118943437C>T	uc004bjs.1	-	c.1157G>A	c.(1156-1158)AGC>AAC	p.S386N	ASTN2_uc004bjr.1_Missense_Mutation_p.S386N|ASTN2_uc004bjt.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	386	Cytoplasmic (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.169492	33.220292	45.42891	20	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118943437	118943437	1084	9	C	T	T	28	28	ASTN2	T	2	2
CDK5RAP2	55755	broad.mit.edu	36	9	122221990	122221990	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122221990C>T	uc004bkf.1	-	c.4074G>A	c.(4072-4074)GCG>GCA	p.A1358A	CDK5RAP2_uc004bkg.1_Silent_p.A1358A|CDK5RAP2_uc004bkh.1_Silent_p.A1128A|CDK5RAP2_uc004bki.1_Silent_p.A1125A|CDK5RAP2_uc010mvi.1_Silent_p.A367A|CDK5RAP2_uc004bke.1_Silent_p.A643A	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1358					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|promoter binding			ovary(2)|lung(1)|skin(1)	4														0.2	115.49633	141.040264	61	244	CC		KEEP	---	---	---	---	capture			Silent	SNP	122221990	122221990	3275	9	C	T	T	27	27	CDK5RAP2	T	1	1
CDK5RAP2	55755	broad.mit.edu	36	9	122241516	122241516	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122241516C>T	uc004bkf.1	-	c.3704G>A	c.(3703-3705)AGA>AAA	p.R1235K	CDK5RAP2_uc004bkg.1_Missense_Mutation_p.R1235K|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R1005K|CDK5RAP2_uc004bki.1_Missense_Mutation_p.R1002K|CDK5RAP2_uc010mvi.1_Missense_Mutation_p.R244K|CDK5RAP2_uc004bke.1_Missense_Mutation_p.R520K	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1235					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|promoter binding			ovary(2)|lung(1)|skin(1)	4												OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.709677	500.216948	508.757961	154	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122241516	122241516	3275	9	C	T	T	32	32	CDK5RAP2	T	2	2
CDK5RAP2	55755	broad.mit.edu	36	9	122250165	122250165	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122250165A>G	uc004bkf.1	-	c.2854T>C	c.(2854-2856)TAT>CAT	p.Y952H	CDK5RAP2_uc004bkg.1_Missense_Mutation_p.Y952H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Y722H|CDK5RAP2_uc004bki.1_Missense_Mutation_p.Y719H|CDK5RAP2_uc010mvi.1_Missense_Mutation_p.Y2H|CDK5RAP2_uc004bke.1_Missense_Mutation_p.Y237H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	952	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|promoter binding			ovary(2)|lung(1)|skin(1)	4														0.214844	142.119778	161.309978	55	201	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122250165	122250165	3275	9	A	G	G	14	14	CDK5RAP2	G	4	4
CDK5RAP2	55755	broad.mit.edu	36	9	122255618	122255618	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122255618C>A	uc004bkf.1	-	c.2730G>T	c.(2728-2730)GAG>GAT	p.E910D	CDK5RAP2_uc004bkg.1_Missense_Mutation_p.E910D|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.1_Missense_Mutation_p.E677D|CDK5RAP2_uc004bke.1_Missense_Mutation_p.E195D	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	910					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|promoter binding			ovary(2)|lung(1)|skin(1)	4														0.179661	84.589511	113.087252	53	242	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122255618	122255618	3275	9	C	A	A	32	32	CDK5RAP2	A	3	3
PSMD5	5711	broad.mit.edu	36	9	122633539	122633539	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122633539C>A	uc004bko.1	-	c.452G>T	c.(451-453)AGA>ATA	p.R151I		NM_005047	NP_005038	Q16401	PSMD5_HUMAN	proteasome 26S non-ATPase subunit 5	151					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|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding				0														0.233333	119.460567	135.098199	56	184	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122633539	122633539	13154	9	C	A	A	32	32	PSMD5	A	3	3
C5	727	broad.mit.edu	36	9	122845197	122845197	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122845197C>T	uc004bkv.1	-	c.327G>A	c.(325-327)AAG>AAA	p.K109K	C5_uc010mvm.1_Silent_p.K109K|C5_uc010mvn.1_Silent_p.K109K	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	109					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2					Eculizumab(DB01257)									0.2	68.60103	82.001596	32	128	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Silent	SNP	122845197	122845197	2378	9	C	T	T	28	28	C5	T	2	2
CEP110	11064	broad.mit.edu	36	9	122890439	122890439	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122890439C>A	uc004bkx.1	+	c.14C>A	c.(13-15)TCT>TAT	p.S5Y	CEP110_uc004bkw.2_Missense_Mutation_p.S5Y	NM_007018	NP_008949	Q7Z7A1	CE110_HUMAN	centrosomal protein 110kDa	5					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			ovary(3)|skin(1)	4										584				0.24183	76.685109	86.104973	37	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122890439	122890439	3378	9	C	A	A	32	32	CEP110	A	3	3
CEP110	11064	broad.mit.edu	36	9	122961083	122961083	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122961083G>T	uc004bkx.1	+	c.4894G>T	c.(4894-4896)GAG>TAG	p.E1632*	CEP110_uc010mvo.1_Nonsense_Mutation_p.E301*|CEP110_uc004blb.1_Nonsense_Mutation_p.E301*|CEP110_uc010mvp.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CE110_HUMAN	centrosomal protein 110kDa	1632	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			ovary(3)|skin(1)	4										584				0.149306	58.82971	92.822499	43	245	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	122961083	122961083	3378	9	G	T	T	33	33	CEP110	T	5	3
GSN	2934	broad.mit.edu	36	9	123119202	123119202	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:123119202G>A	uc004blf.1	+	c.924G>A	c.(922-924)GGG>GGA	p.G308G	GSN_uc004bld.1_Silent_p.G257G|GSN_uc010mvq.1_Silent_p.G268G|GSN_uc010mvr.1_Silent_p.G268G|GSN_uc010mvs.1_Silent_p.G257G|GSN_uc010mvt.1_Silent_p.G257G|GSN_uc010mvu.1_Silent_p.G257G|GSN_uc004ble.1_Silent_p.G257G|GSN_uc010mvv.1_Silent_p.G257G|GSN_uc004blg.1_Silent_p.G39G	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	308					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3														0.179811	105.48552	136.059173	57	260	GG		KEEP	---	---	---	---	capture			Silent	SNP	123119202	123119202	7105	9	G	A	A	41	41	GSN	A	2	2
DAB2IP	153090	broad.mit.edu	36	9	123562413	123562413	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:123562413C>T	uc004bln.1	+	c.960C>T	c.(958-960)TTC>TTT	p.F320F	DAB2IP_uc004blo.1_Silent_p.F224F	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	348					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 gene-specific transcription from RNA polymerase II promoter|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 Ras protein signal transduction|positive regulation of apoptosis|positive regulation of gene-specific 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														0.253521	39.515946	43.433034	18	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	123562413	123562413	4385	9	C	T	T	31	31	DAB2IP	T	1	1
DAB2IP	153090	broad.mit.edu	36	9	123584438	123584438	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:123584438G>A	uc004bln.1	+	c.3326G>A	c.(3325-3327)CGC>CAC	p.R1109H	DAB2IP_uc004blo.1_Missense_Mutation_p.R1013H|DAB2IP_uc004blp.1_Missense_Mutation_p.R542H	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	1137	Potential.				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 gene-specific transcription from RNA polymerase II promoter|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 Ras protein signal transduction|positive regulation of apoptosis|positive regulation of gene-specific 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														0.230453	120.036905	136.180044	56	187	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123584438	123584438	4385	9	G	A	A	38	38	DAB2IP	A	1	1
MORN5	254956	broad.mit.edu	36	9	123976664	123976664	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:123976664G>A	uc004blw.1	+	c.376G>A	c.(376-378)GGC>AGC	p.G126S		NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	126											0														0.2	88.375848	106.797343	44	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123976664	123976664	10103	9	G	A	A	39	39	MORN5	A	1	1
LHX6	26468	broad.mit.edu	36	9	124015749	124015749	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124015749G>A	uc004blx.2	-	c.1011C>T	c.(1009-1011)AGC>AGT	p.S337S	LHX6_uc010mvw.1_Silent_p.S308S|LHX6_uc004bly.2_Silent_p.S337S	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	LIM homeobox protein 6 isoform 1	308					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0														0.733333	101.188895	103.399904	33	12	GG		KEEP	---	---	---	---	capture			Silent	SNP	124015749	124015749	9101	9	G	A	A	42	42	LHX6	A	2	2
LHX6	26468	broad.mit.edu	36	9	124019330	124019330	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124019330G>A	uc004blx.2	-	c.520C>T	c.(520-522)CGG>TGG	p.R174W	LHX6_uc010mvw.1_Missense_Mutation_p.R145W|LHX6_uc004bly.2_Missense_Mutation_p.R174W	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	LIM homeobox protein 6 isoform 1	145	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0														0.344828	95.158929	97.628064	40	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124019330	124019330	9101	9	G	A	A	38	38	LHX6	A	1	1
PTGS1	5742	broad.mit.edu	36	9	124188623	124188623	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124188623G>T	uc004bmg.1	+	c.1087G>T	c.(1087-1089)GAG>TAG	p.E363*	PTGS1_uc010mwb.1_Nonsense_Mutation_p.E254*|PTGS1_uc004bmf.1_Nonsense_Mutation_p.E363*|PTGS1_uc004bmh.1_Nonsense_Mutation_p.E254*	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	363					cyclooxygenase pathway|hormone biosynthetic process|oxidation-reduction 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)	1					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)									0.233173	193.736185	220.882316	97	319	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	124188623	124188623	13210	9	G	T	T	33	33	PTGS1	T	5	3
OR1J1	347168	broad.mit.edu	36	9	124279543	124279543	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124279543G>T	uc004bmk.1	-	c.484C>A	c.(484-486)CTC>ATC	p.L162I	OR1J2_uc004bmj.1_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1														0.166667	21.622577	29.8446	13	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124279543	124279543	11365	9	G	T	T	35	35	OR1J1	T	3	3
OR1N1	138883	broad.mit.edu	36	9	124328916	124328916	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124328916G>T	uc004bmn.1	-	c.478C>A	c.(478-480)CTC>ATC	p.L160I		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	160	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1														0.271186	74.939787	80.517264	32	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124328916	124328916	11375	9	G	T	T	35	35	OR1N1	T	3	3
OR1N1	138883	broad.mit.edu	36	9	124329257	124329257	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124329257G>A	uc004bmn.1	-	c.137C>T	c.(136-138)GCC>GTC	p.A46V		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1														0.159574	24.470887	34.84442	15	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124329257	124329257	11375	9	G	A	A	42	42	OR1N1	A	2	2
OR1N2	138882	broad.mit.edu	36	9	124356030	124356030	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124356030C>T	uc004bmo.1	+	c.761C>T	c.(760-762)GCC>GTC	p.A254V		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.623729	550.162724	554.14764	184	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124356030	124356030	11376	9	C	T	T	26	26	OR1N2	T	2	2
OR1Q1	158131	broad.mit.edu	36	9	124417441	124417441	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124417441G>T	uc004bmq.1	+	c.604G>T	c.(604-606)GAA>TAA	p.E202*		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.186495	97.739143	126.41558	58	253	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	124417441	124417441	11377	9	G	T	T	33	33	OR1Q1	T	5	3
OR1L1	26737	broad.mit.edu	36	9	124464660	124464660	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124464660C>A	uc004bms.1	+	c.995C>A	c.(994-996)CCT>CAT	p.P332H		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	332	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.198324	137.796869	168.151505	71	287	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124464660	124464660	11369	9	C	A	A	24	24	OR1L1	A	3	3
OR1L4	254973	broad.mit.edu	36	9	124526235	124526235	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124526235C>T	uc004bmu.1	+	c.146C>T	c.(145-147)GCC>GTC	p.A49V		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	49	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.212454	123.172123	143.98618	58	215	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124526235	124526235	11371	9	C	T	T	26	26	OR1L4	T	2	2
OR5C1	392391	broad.mit.edu	36	9	124591690	124591690	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124591690G>A	uc004bmw.1	+	c.658G>A	c.(658-660)GTG>ATG	p.V220M		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	220	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1														0.230769	57.763316	65.538332	27	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124591690	124591690	11563	9	G	A	A	44	44	OR5C1	A	2	2
OR1K1	392392	broad.mit.edu	36	9	124602503	124602503	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124602503C>T	uc004bmx.1	+	c.281C>T	c.(280-282)TCG>TTG	p.S94L		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.178344	50.502553	65.799547	28	129	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124602503	124602503	11368	9	C	T	T	31	31	OR1K1	T	1	1
OR1K1	392392	broad.mit.edu	36	9	124603147	124603147	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124603147C>T	uc004bmx.1	+	c.925C>T	c.(925-927)CGA>TGA	p.R309*		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.188034	39.984148	50.644721	22	95	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	124603147	124603147	11368	9	C	T	T	27	27	OR1K1	T	5	1
PDCL	5082	broad.mit.edu	36	9	124625267	124625267	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124625267C>T	uc004bmz.1	-	c.203G>A	c.(202-204)CGC>CAC	p.R68H	PDCL_uc004bna.1_Missense_Mutation_p.R68H	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	68					signal transduction|visual perception						0														0.266667	192.555663	208.060346	84	231	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124625267	124625267	12047	9	C	T	T	27	27	PDCL	T	1	1
RC3H2	54542	broad.mit.edu	36	9	124692582	124692582	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124692582A>G	uc010mwc.1	-	c.413T>C	c.(412-414)GTA>GCA	p.V138A	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.V138A|RC3H2_uc004bne.2_Missense_Mutation_p.V138A|RC3H2_uc004bng.1_Missense_Mutation_p.V138A	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	138						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(1)	1														0.133803	32.742353	51.203367	19	123	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124692582	124692582	13636	9	A	G	G	14	14	RC3H2	G	4	4
RC3H2	54542	broad.mit.edu	36	9	124695049	124695049	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124695049C>A	uc010mwc.1	-	c.309G>T	c.(307-309)GAG>GAT	p.E103D	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.E103D|RC3H2_uc004bne.2_Missense_Mutation_p.E103D|RC3H2_uc004bng.1_Missense_Mutation_p.E103D	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	103						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(1)	1														0.401361	159.081431	160.335953	59	88	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124695049	124695049	13636	9	C	A	A	24	24	RC3H2	A	3	3
ZBTB26	57684	broad.mit.edu	36	9	124720791	124720791	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124720791G>A	uc004bnj.1	-	c.1244C>T	c.(1243-1245)CCC>CTC	p.P415L	ZBTB26_uc004bnk.1_Missense_Mutation_p.P415L|ZBTB26_uc004bni.2_Missense_Mutation_p.P415L	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.219941	176.328923	200.975857	75	266	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124720791	124720791	18119	9	G	A	A	43	43	ZBTB26	A	2	2
STRBP	55342	broad.mit.edu	36	9	124981197	124981197	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124981197A>G	uc004bns.1	-	c.134T>C	c.(133-135)GTC>GCC	p.V45A	STRBP_uc004bnt.1_5'UTR|STRBP_uc004bnu.1_Missense_Mutation_p.V31A|STRBP_uc004bnv.1_Missense_Mutation_p.V45A	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	45					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)	1														0.154891	121.558102	163.411358	57	311	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124981197	124981197	15847	9	A	G	G	10	10	STRBP	G	4	4
CRB2	286204	broad.mit.edu	36	9	125169341	125169341	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:125169341G>A	uc004bnx.1	+	c.824G>A	c.(823-825)CGA>CAA	p.R275Q	CRB2_uc004bnw.1_Missense_Mutation_p.R275Q	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2	275	Extracellular (Potential).|EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.237037	66.314552	74.870372	32	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125169341	125169341	3988	9	G	A	A	37	37	CRB2	A	1	1
CRB2	286204	broad.mit.edu	36	9	125172716	125172716	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:125172716G>T	uc004bnx.1	+	c.1563G>T	c.(1561-1563)CAG>CAT	p.Q521H	CRB2_uc004bnw.1_Missense_Mutation_p.Q521H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2	521	Extracellular (Potential).|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.187192	66.413462	85.040688	38	165	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125172716	125172716	3988	9	G	T	T	35	35	CRB2	T	3	3
CRB2	286204	broad.mit.edu	36	9	125172959	125172959	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:125172959C>T	uc004bnx.1	+	c.1806C>T	c.(1804-1806)GGC>GGT	p.G602G	CRB2_uc004bnw.1_Silent_p.G602G	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2	602	Extracellular (Potential).|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.161765	38.983092	53.767734	22	114	CC		KEEP	---	---	---	---	capture			Silent	SNP	125172959	125172959	3988	9	C	T	T	28	28	CRB2	T	2	2
CRB2	286204	broad.mit.edu	36	9	125173624	125173624	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:125173624C>T	uc004bnx.1	+	c.2382C>T	c.(2380-2382)GGC>GGT	p.G794G	CRB2_uc004bnw.1_Silent_p.G794G	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2	794	Extracellular (Potential).|Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.403101	133.269805	134.328723	52	77	CC		KEEP	---	---	---	---	capture			Silent	SNP	125173624	125173624	3988	9	C	T	T	27	27	CRB2	T	1	1
CRB2	286204	broad.mit.edu	36	9	125175639	125175639	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:125175639G>A	uc004bnx.1	+	c.3008G>A	c.(3007-3009)CGC>CAC	p.R1003H	CRB2_uc004bnw.1_Missense_Mutation_p.R1003H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2	1003	Extracellular (Potential).|Laminin G-like 3.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.210526	7.990069	9.462983	4	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125175639	125175639	3988	9	G	A	A	38	38	CRB2	A	1	1
DENND1A	57706	broad.mit.edu	36	9	125432547	125432547	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:125432547C>T	uc004bnz.1	-	c.648G>A	c.(646-648)GCG>GCA	p.A216A	DENND1A_uc004bny.1_Silent_p.A33A|DENND1A_uc004boa.1_Silent_p.A216A|DENND1A_uc004bob.1_Silent_p.A186A|DENND1A_uc004boc.2_Silent_p.A184A	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	216	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2														0.205882	13.516218	16.237044	7	27	CC		KEEP	---	---	---	---	capture			Silent	SNP	125432547	125432547	4605	9	C	T	T	31	31	DENND1A	T	1	1
NEK6	10783	broad.mit.edu	36	9	126128507	126128507	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126128507G>A	uc004boh.1	+	c.585G>A	c.(583-585)GAG>GAA	p.E195E	NEK6_uc004bof.1_Silent_p.E179E|NEK6_uc004bog.1_Silent_p.E161E|NEK6_uc010mwj.1_Silent_p.E114E|NEK6_uc010mwk.1_Silent_p.E161E|NEK6_uc004boi.1_Silent_p.E161E	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	161	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						NSCLC(122;934 1785 18647 44295 45571)				350				0.244681	50.973589	56.560746	23	71	GG		KEEP	---	---	---	---	capture			Silent	SNP	126128507	126128507	10727	9	G	A	A	34	34	NEK6	A	2	2
NR5A1	2516	broad.mit.edu	36	9	126302653	126302653	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126302653G>A	uc004boo.1	-	c.407C>T	c.(406-408)CCG>CTG	p.P136L		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	136					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0														0.672414	121.139129	122.667781	39	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126302653	126302653	11040	9	G	A	A	39	39	NR5A1	A	1	1
OLFML2A	169611	broad.mit.edu	36	9	126589299	126589299	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126589299G>T	uc004bov.1	+	c.315G>T	c.(313-315)AAG>AAT	p.K105N	OLFML2A_uc010mwr.1_Missense_Mutation_p.K105N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	105											0														0.229358	49.680395	57.044432	25	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126589299	126589299	11262	9	G	T	T	33	33	OLFML2A	T	3	3
OLFML2A	169611	broad.mit.edu	36	9	126612268	126612268	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126612268G>A	uc004bov.1	+	c.1715G>A	c.(1714-1716)CGG>CAG	p.R572Q	OLFML2A_uc004bow.1_Missense_Mutation_p.R358Q	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	572	Olfactomedin-like.										0														0.567568	189.929201	190.370528	63	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126612268	126612268	11262	9	G	A	A	39	39	OLFML2A	A	1	1
WDR38	401551	broad.mit.edu	36	9	126657824	126657824	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126657824G>T	uc004box.1	+	c.281G>T	c.(280-282)AGA>ATA	p.R94I		NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	94	WD 2.										0												OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.220183	91.627011	107.412233	48	170	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126657824	126657824	17865	9	G	T	T	33	33	WDR38	T	3	3
ARPC5L	81873	broad.mit.edu	36	9	126679017	126679017	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126679017C>A	uc004bpa.2	+	c.439C>A	c.(439-441)CTT>ATT	p.L147I		NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit	147					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding				0														0.186916	36.12858	45.962488	20	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126679017	126679017	993	9	C	A	A	32	32	ARPC5L	A	3	3
TYRP1	7306	broad.mit.edu	36	9	12685554	12685554	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:12685554A>G	uc003zkv.2	+	c.425A>G	c.(424-426)AAC>AGC	p.N142S		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	142	Lumenal, melanosome (Potential).				melanin biosynthetic process|oxidation-reduction process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)												0.18595	112.533785	134.904188	45	197	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;9.85e-06)	Missense_Mutation	SNP	12685554	12685554	17373	9	A	G	G	2	2	TYRP1	G	4	4
TYRP1	7306	broad.mit.edu	36	9	12685729	12685729	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:12685729C>T	uc003zkv.2	+	c.600C>T	c.(598-600)TTC>TTT	p.F200F		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	200	Lumenal, melanosome (Potential).				melanin biosynthetic process|oxidation-reduction process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)												0.117886	30.085408	65.405339	29	217	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;9.85e-06)	Silent	SNP	12685729	12685729	17373	9	C	T	T	30	30	TYRP1	T	2	2
TYRP1	7306	broad.mit.edu	36	9	12688480	12688480	+	Silent	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:12688480T>A	uc003zkv.2	+	c.738T>A	c.(736-738)CTT>CTA	p.L246L		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	246	Lumenal, melanosome (Potential).				melanin biosynthetic process|oxidation-reduction process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)												0.397129	214.967743	216.90594	83	126	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;9.85e-06)	Silent	SNP	12688480	12688480	17373	9	T	A	A	62	62	TYRP1	A	4	4
RABEPK	10244	broad.mit.edu	36	9	127015596	127015596	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:127015596G>A	uc004bpi.1	+	c.338G>A	c.(337-339)CGA>CAA	p.R113Q	RABEPK_uc004bph.1_Missense_Mutation_p.R113Q|RABEPK_uc004bpj.1_Intron|RABEPK_uc004bpk.1_Missense_Mutation_p.R113Q|RABEPK_uc004bpl.1_Intron|RABEPK_uc004bpm.1_Missense_Mutation_p.R113Q	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	113	Kelch 2.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1														0.187879	58.530607	73.580981	31	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127015596	127015596	13422	9	G	A	A	37	37	RABEPK	A	1	1
HSPA5	3309	broad.mit.edu	36	9	127039147	127039147	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:127039147C>A	uc004bpn.1	-	c.1510G>T	c.(1510-1512)GAT>TAT	p.D504Y		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	504					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|negative regulation of caspase activity|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)	3					Antihemophilic Factor(DB00025)						Prostate(1;0.17)			0.171141	83.315079	113.818278	51	247	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127039147	127039147	7713	9	C	A	A	32	32	HSPA5	A	3	3
GAPVD1	26130	broad.mit.edu	36	9	127125914	127125914	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:127125914C>T	uc004bpp.1	+	c.1749C>T	c.(1747-1749)TCC>TCT	p.S583S	GAPVD1_uc004bpq.1_Silent_p.S583S|GAPVD1_uc010mwx.1_Silent_p.S583S|GAPVD1_uc004bpr.1_Silent_p.S562S|GAPVD1_uc004bps.1_Silent_p.S583S|GAPVD1_uc010mwy.1_Silent_p.S442S	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	583					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4														0.216783	73.941825	84.525144	31	112	CC		KEEP	---	---	---	---	capture			Silent	SNP	127125914	127125914	6503	9	C	T	T	21	21	GAPVD1	T	2	2
GAPVD1	26130	broad.mit.edu	36	9	127139509	127139509	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:127139509C>T	uc004bpp.1	+	c.2776C>T	c.(2776-2778)CGA>TGA	p.R926*	GAPVD1_uc004bpq.1_Nonsense_Mutation_p.R899*|GAPVD1_uc010mwx.1_Nonsense_Mutation_p.R899*|GAPVD1_uc004bpr.1_Nonsense_Mutation_p.R878*|GAPVD1_uc004bps.1_Nonsense_Mutation_p.R899*|GAPVD1_uc010mwy.1_Nonsense_Mutation_p.R732*	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	899					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4														0.252427	118.389262	129.868294	52	154	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	127139509	127139509	6503	9	C	T	T	31	31	GAPVD1	T	5	1
MAPKAP1	79109	broad.mit.edu	36	9	127474555	127474555	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:127474555C>T	uc004bpv.1	-	c.120G>A	c.(118-120)AAG>AAA	p.K40K	MAPKAP1_uc004bpw.1_Intron|MAPKAP1_uc004bpx.1_Intron|MAPKAP1_uc004bpy.1_Silent_p.K40K|MAPKAP1_uc004bpz.1_Silent_p.K40K|MAPKAP1_uc010mxa.1_Non-coding_Transcript|MAPKAP1_uc004bqa.1_Silent_p.K40K	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	40	Interaction with MAP3K2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4														0.2	92.260186	110.690294	44	176	CC		KEEP	---	---	---	---	capture			Silent	SNP	127474555	127474555	9671	9	C	T	T	32	32	MAPKAP1	T	2	2
C9orf150	286343	broad.mit.edu	36	9	12811632	12811632	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:12811632C>T	uc003zkw.1	+	c.560C>T	c.(559-561)GCG>GTG	p.A187V		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	190											0														0.169279	85.19523	118.205247	54	265	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;1.64e-13)	Missense_Mutation	SNP	12811632	12811632	2576	9	C	T	T	27	27	C9orf150	T	1	1
LMX1B	4010	broad.mit.edu	36	9	128493161	128493161	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:128493161C>T	uc004bqj.2	+	c.483C>T	c.(481-483)TCC>TCT	p.S161S	LMX1B_uc004bqi.2_Silent_p.S161S	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	161					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0						Pancreas(110;1796 2278 18357 20466)								0.666667	59.306787	60.045113	20	10	CC		KEEP	---	---	---	---	capture			Silent	SNP	128493161	128493161	9191	9	C	T	T	23	23	LMX1B	T	1	1
ZBTB34	403341	broad.mit.edu	36	9	128682685	128682685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:128682685C>T	uc004bqm.2	+	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	392	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.258824	49.90757	54.389366	22	63	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	128682685	128682685	18123	9	C	T	T	27	27	ZBTB34	T	5	1
GARNL3	84253	broad.mit.edu	36	9	129167465	129167465	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129167465C>T	uc004bqs.1	+	c.2106C>T	c.(2104-2106)AAC>AAT	p.N702N	GARNL3_uc010mxh.1_Non-coding_Transcript|GARNL3_uc010mxi.1_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	720	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			central_nervous_system(1)|skin(1)	2														0.224762	280.172762	316.719995	118	407	CC		KEEP	---	---	---	---	capture			Silent	SNP	129167465	129167465	6505	9	C	T	T	20	20	GARNL3	T	2	2
ZNF79	7633	broad.mit.edu	36	9	129230933	129230933	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129230933A>G	uc004bqw.2	+	c.18A>G	c.(16-18)GTA>GTG	p.V6V		NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.217391	26.530889	29.913848	10	36	AA		KEEP	---	---	---	---	capture			Silent	SNP	129230933	129230933	18759	9	A	G	G	14	14	ZNF79	G	4	4
LRSAM1	90678	broad.mit.edu	36	9	129303135	129303135	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129303135C>T	uc004brb.1	+	c.1938C>T	c.(1936-1938)GTC>GTT	p.V646V	LRSAM1_uc010mxk.1_Silent_p.V619V|LRSAM1_uc004brc.1_Silent_p.V646V|LRSAM1_uc004brd.1_Silent_p.V646V|LRSAM1_uc004bre.1_Silent_p.V226V|LRSAM1_uc004brg.1_Silent_p.V77V	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	646					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0														0.596939	337.191382	338.806469	117	79	CC		KEEP	---	---	---	---	capture			Silent	SNP	129303135	129303135	9419	9	C	T	T	31	31	LRSAM1	T	1	1
FAM129B	64855	broad.mit.edu	36	9	129309468	129309468	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129309468T>G	uc004brh.1	-	c.1718A>C	c.(1717-1719)AAC>ACC	p.N573T	FAM129B_uc004bri.1_Missense_Mutation_p.N560T|FAM129B_uc004brj.2_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	560							protein binding				0														0.169811	18.542942	24.009833	9	44	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129309468	129309468	5634	9	T	G	G	60	60	FAM129B	G	4	4
FAM129B	64855	broad.mit.edu	36	9	129310289	129310289	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129310289G>A	uc004brh.1	-	c.1446C>T	c.(1444-1446)TAC>TAT	p.Y482Y	FAM129B_uc004bri.1_Silent_p.Y469Y|FAM129B_uc004brj.2_Silent_p.Y482Y	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	469							protein binding				0														0.176923	37.742744	50.536136	23	107	GG		KEEP	---	---	---	---	capture			Silent	SNP	129310289	129310289	5634	9	G	A	A	40	40	FAM129B	A	1	1
FAM129B	64855	broad.mit.edu	36	9	129333829	129333829	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129333829C>T	uc004brh.1	-	c.105G>A	c.(103-105)CAG>CAA	p.Q35Q	FAM129B_uc004bri.1_Silent_p.Q22Q|FAM129B_uc004brj.2_Silent_p.Q35Q	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	22							protein binding				0														0.2	56.34142	67.649207	27	108	CC		KEEP	---	---	---	---	capture			Silent	SNP	129333829	129333829	5634	9	C	T	T	20	20	FAM129B	T	2	2
C9orf117	286207	broad.mit.edu	36	9	129511630	129511630	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129511630G>A	uc004brn.1	+	c.270G>A	c.(268-270)ACG>ACA	p.T90T	PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	hypothetical protein LOC286207	90	Potential.										0														0.408	138.298035	139.222794	51	74	GG		KEEP	---	---	---	---	capture			Silent	SNP	129511630	129511630	2564	9	G	A	A	38	38	C9orf117	A	1	1
TTC16	158248	broad.mit.edu	36	9	129519846	129519846	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129519846C>T	uc004brq.1	+	c.400C>T	c.(400-402)CGC>TGC	p.R134C	PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.1_5'Flank|PTRH1_uc010mxm.1_5'Flank|PTRH1_uc004brp.1_Intron|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	134							binding				0														0.278107	107.945699	115.437876	47	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129519846	129519846	17237	9	C	T	T	27	27	TTC16	T	1	1
TTC16	158248	broad.mit.edu	36	9	129522264	129522264	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129522264C>A	uc004brq.1	+	c.513C>A	c.(511-513)TGC>TGA	p.C171*	PTRH1_uc004brp.1_Intron|TTC16_uc004brr.1_Nonsense_Mutation_p.C116*|TTC16_uc010mxn.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	171							binding				0														0.285714	139.772679	148.456517	60	150	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	129522264	129522264	17237	9	C	A	A	28	28	TTC16	A	5	3
TTC16	158248	broad.mit.edu	36	9	129526250	129526250	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129526250C>T	uc004brq.1	+	c.903C>T	c.(901-903)TTC>TTT	p.F301F	PTRH1_uc004brp.1_Intron|TTC16_uc004brr.1_Silent_p.F246F|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	301	TPR 5.						binding				0														0.265306	59.799817	64.682799	26	72	CC		KEEP	---	---	---	---	capture			Silent	SNP	129526250	129526250	17237	9	C	T	T	31	31	TTC16	T	1	1
TTC16	158248	broad.mit.edu	36	9	129532850	129532850	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129532850C>T	uc004brq.1	+	c.1967C>T	c.(1966-1968)TCG>TTG	p.S656L	TTC16_uc004brr.1_3'UTR|TTC16_uc010mxn.1_Missense_Mutation_p.S252L	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	656							binding				0														0.183206	44.719942	57.06471	24	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129532850	129532850	17237	9	C	T	T	31	31	TTC16	T	1	1
SH2D3C	10044	broad.mit.edu	36	9	129576446	129576446	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129576446C>T	uc004bsc.1	-	c.159G>A	c.(157-159)ACG>ACA	p.T53T	SH2D3C_uc004bsd.1_5'UTR	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	53					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1														0.180645	48.505956	63.373188	28	127	CC		KEEP	---	---	---	---	capture			Silent	SNP	129576446	129576446	14725	9	C	T	T	27	27	SH2D3C	T	1	1
ENG	2022	broad.mit.edu	36	9	129627399	129627399	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129627399C>T	uc004bsj.2	-	c.748G>A	c.(748-750)GTC>ATC	p.V250I	ENG_uc004bsk.2_Missense_Mutation_p.V250I	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	250	Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction|transforming growth factor beta receptor complex	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0														0.282828	61.7547	65.952814	28	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129627399	129627399	5310	9	C	T	T	19	19	ENG	T	1	1
ST6GALNAC6	30815	broad.mit.edu	36	9	129696708	129696708	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129696708G>T	uc004bso.1	-	c.201C>A	c.(199-201)GTC>GTA	p.V67V	ST6GALNAC6_uc004bsn.1_Silent_p.V33V|ST6GALNAC6_uc004bsp.1_Silent_p.V67V|ST6GALNAC6_uc004bsq.1_Silent_p.V33V|ST6GALNAC6_uc004bsr.2_Silent_p.V33V|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	ST6	67	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0														0.204334	121.436139	147.678012	66	257	GG		KEEP	---	---	---	---	capture			Silent	SNP	129696708	129696708	15746	9	G	T	T	33	33	ST6GALNAC6	T	3	3
NAIF1	203245	broad.mit.edu	36	9	129865936	129865936	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129865936C>T	uc004bta.1	-	c.576G>A	c.(574-576)GCG>GCA	p.A192A	NAIF1_uc004bsz.2_Non-coding_Transcript	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	192					apoptosis|induction of apoptosis	nucleus					0														0.197279	102.608224	127.487882	58	236	CC		KEEP	---	---	---	---	capture			Silent	SNP	129865936	129865936	10542	9	C	T	T	27	27	NAIF1	T	1	1
LCN2	3934	broad.mit.edu	36	9	129954365	129954365	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129954365C>T	uc004bto.1	+	c.558C>T	c.(556-558)ATC>ATT	p.I186I		NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2	186					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0														0.596154	179.742926	180.579963	62	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	129954365	129954365	9008	9	C	T	T	31	31	LCN2	T	1	1
CIZ1	25792	broad.mit.edu	36	9	129981374	129981374	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129981374G>T	uc004btt.1	-	c.933C>A	c.(931-933)TTC>TTA	p.F311L	CIZ1_uc004btr.1_Missense_Mutation_p.F311L|CIZ1_uc004bts.1_Missense_Mutation_p.F282L|CIZ1_uc004btu.1_Missense_Mutation_p.F287L|CIZ1_uc004btv.1_Missense_Mutation_p.F311L|CIZ1_uc004btw.1_Missense_Mutation_p.F311L|CIZ1_uc004btx.1_Missense_Mutation_p.F287L	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	311	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4														0.688679	407.21245	413.984452	146	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129981374	129981374	3577	9	G	T	T	41	41	CIZ1	T	3	3
DNM1	1759	broad.mit.edu	36	9	130041864	130041864	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130041864G>T	uc010mxv.1	+	c.1530G>T	c.(1528-1530)AAG>AAT	p.K510N	DNM1_uc010mxr.1_Missense_Mutation_p.K510N|DNM1_uc010mxs.1_Missense_Mutation_p.K510N|DNM1_uc010mxt.1_Missense_Mutation_p.K510N|DNM1_uc010mxu.1_Missense_Mutation_p.K510N|DNM1_uc004bub.1_5'Flank|DNM1_uc004buc.1_5'Flank|DNM1_uc004bud.2_5'Flank	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	510					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity|motor activity			ovary(2)	2						GBM(113;146 1575 2722 28670 29921)								0.207792	60.12016	72.302538	32	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130041864	130041864	4853	9	G	T	T	33	33	DNM1	T	3	3
DNM1	1759	broad.mit.edu	36	9	130049561	130049561	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130049561C>A	uc010mxv.1	+	c.1868C>A	c.(1867-1869)GCT>GAT	p.A623D	DNM1_uc010mxs.1_Missense_Mutation_p.A623D|DNM1_uc010mxt.1_3'UTR|DNM1_uc010mxu.1_3'UTR|DNM1_uc004bub.1_De_novo_Start_OutOfFrame|DNM1_uc004buc.1_Missense_Mutation_p.A90D|DNM1_uc004bud.2_Non-coding_Transcript|MIR199B_hsa-mir-199b|MI0000282_5'Flank	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	623	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity|motor activity			ovary(2)	2						GBM(113;146 1575 2722 28670 29921)								0.333333	47.901883	49.306177	19	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130049561	130049561	4853	9	C	A	A	28	28	DNM1	A	3	3
GOLGA2	2801	broad.mit.edu	36	9	130076026	130076026	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130076026G>A	uc004bug.1	-	c.95C>T	c.(94-96)GCG>GTG	p.A32V	GOLGA2_uc010mxw.1_Missense_Mutation_p.A32V|GOLGA2_uc004bul.1_5'UTR|C9orf119_uc010mxx.1_5'Flank|C9orf119_uc004bup.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	44	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1														0.199686	243.148754	296.538038	127	509	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130076026	130076026	6821	9	G	A	A	38	38	GOLGA2	A	1	1
C9orf119	375757	broad.mit.edu	36	9	130086614	130086614	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130086614C>T	uc004bup.1	+	c.431C>T	c.(430-432)CCA>CTA	p.P144L	C9orf119_uc010mxx.1_Missense_Mutation_p.P144L	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	144					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0														0.174074	78.14714	105.240482	47	223	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130086614	130086614	2565	9	C	T	T	21	21	C9orf119	T	2	2
COQ4	51117	broad.mit.edu	36	9	130135694	130135694	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130135694G>A	uc004bur.2	+	c.747G>A	c.(745-747)CGG>CGA	p.R249R	COQ4_uc004bus.1_Silent_p.R225R|COQ4_uc010mxy.1_Silent_p.R225R	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4 homolog	249					ubiquinone biosynthetic process	mitochondrial inner membrane					0														0.359756	172.992242	175.826618	59	105	GG		KEEP	---	---	---	---	capture			Silent	SNP	130135694	130135694	3885	9	G	A	A	43	43	COQ4	A	2	2
SLC27A4	10999	broad.mit.edu	36	9	130157202	130157202	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130157202C>T	uc004but.1	+	c.1374C>T	c.(1372-1374)CGC>CGT	p.R458R	SLC27A4_uc004buu.1_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	458					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						Pancreas(107;1554 2241 10946 12953)								0.588235	84.752632	85.099486	30	21	CC		KEEP	---	---	---	---	capture			Silent	SNP	130157202	130157202	15025	9	C	T	T	26	26	SLC27A4	T	2	2
SLC27A4	10999	broad.mit.edu	36	9	130157539	130157539	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130157539C>T	uc004but.1	+	c.1504C>T	c.(1504-1506)CGA>TGA	p.R502*	SLC27A4_uc004buu.1_Nonsense_Mutation_p.R96*	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	502					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						Pancreas(107;1554 2241 10946 12953)								0.185185	31.078788	38.604813	15	66	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	130157539	130157539	15025	9	C	T	T	23	23	SLC27A4	T	5	1
ODF2	4957	broad.mit.edu	36	9	130301127	130301127	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130301127C>A	uc004bvd.2	+	c.2202C>A	c.(2200-2202)CTC>CTA	p.L734L	ODF2_uc004bvb.1_Silent_p.L710L|ODF2_uc004bvc.1_Silent_p.L710L|ODF2_uc004bvf.1_Silent_p.L729L|ODF2_uc004bvh.1_Silent_p.L140L	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	734	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1														0.258555	148.854568	162.76503	68	195	CC		KEEP	---	---	---	---	capture			Silent	SNP	130301127	130301127	11232	9	C	A	A	32	32	ODF2	A	3	3
SPTAN1	6709	broad.mit.edu	36	9	130406464	130406464	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130406464C>T	uc004bvm.2	+	c.3666C>T	c.(3664-3666)GCC>GCT	p.A1222A	SPTAN1_uc004bvl.2_Silent_p.A1222A|SPTAN1_uc004bvn.2_Silent_p.A1202A	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1222	Spectrin 13.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						NSCLC(120;833 1744 2558 35612 37579)				1105				0.191489	16.548358	20.729175	9	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	130406464	130406464	15631	9	C	T	T	23	23	SPTAN1	T	1	1
SPTAN1	6709	broad.mit.edu	36	9	130411019	130411019	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130411019G>A	uc004bvm.2	+	c.4537G>A	c.(4537-4539)GCT>ACT	p.A1513T	SPTAN1_uc004bvl.2_Missense_Mutation_p.A1513T|SPTAN1_uc004bvn.2_Missense_Mutation_p.A1493T	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1513	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						NSCLC(120;833 1744 2558 35612 37579)				1105				0.214035	237.012439	279.956639	122	448	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130411019	130411019	15631	9	G	A	A	38	38	SPTAN1	A	1	1
SPTAN1	6709	broad.mit.edu	36	9	130415563	130415563	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130415563A>C	uc004bvm.2	+	c.5126A>C	c.(5125-5127)GAA>GCA	p.E1709A	SPTAN1_uc004bvl.2_Missense_Mutation_p.E1704A|SPTAN1_uc004bvn.2_Missense_Mutation_p.E1684A	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1704	Spectrin 18.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						NSCLC(120;833 1744 2558 35612 37579)				1105				0.386555	150.02994	151.369632	46	73	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130415563	130415563	15631	9	A	C	C	9	9	SPTAN1	C	4	4
SPTAN1	6709	broad.mit.edu	36	9	130417744	130417744	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130417744G>T	uc004bvm.2	+	c.5161G>T	c.(5161-5163)GAC>TAC	p.D1721Y	SPTAN1_uc004bvl.2_Missense_Mutation_p.D1716Y|SPTAN1_uc004bvn.2_Missense_Mutation_p.D1696Y	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1716	Spectrin 18.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						NSCLC(120;833 1744 2558 35612 37579)				1105				0.167785	38.730863	54.280144	25	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130417744	130417744	15631	9	G	T	T	41	41	SPTAN1	T	3	3
WDR34	89891	broad.mit.edu	36	9	130436359	130436359	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130436359G>A	uc004bvq.1	-	c.1339C>T	c.(1339-1341)CGG>TGG	p.R447W	WDR34_uc004bvr.1_Missense_Mutation_p.R419W|WDR34_uc004bvs.1_Missense_Mutation_p.R438W	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	447	WD 4.					cytoplasm				central_nervous_system(2)|skin(1)	3														0.787879	610.21152	630.438023	208	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130436359	130436359	17861	9	G	A	A	38	38	WDR34	A	1	1
PKN3	29941	broad.mit.edu	36	9	130522518	130522518	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130522518G>A	uc004bvw.1	+	c.2482G>A	c.(2482-2484)GCC>ACC	p.A828T	PKN3_uc010myh.1_Missense_Mutation_p.R813H|PKN3_uc004bvx.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	828	AGC-kinase C-terminal.				protein phosphorylation|signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			lung(2)	2										307				0.188498	95.540231	123.942491	59	254	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130522518	130522518	12406	9	G	A	A	38	38	PKN3	A	1	1
ZER1	10444	broad.mit.edu	36	9	130552811	130552811	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130552811T>C	uc004bwa.1	-	c.1264A>G	c.(1264-1266)ACA>GCA	p.T422A		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	422					regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1														0.163265	48.514559	64.346453	24	123	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130552811	130552811	18213	9	T	C	C	60	60	ZER1	C	4	4
TBC1D13	54662	broad.mit.edu	36	9	130606205	130606205	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130606205C>T	uc010myj.1	+	c.904C>T	c.(904-906)CTC>TTC	p.L302F	TBC1D13_uc010myk.1_Intron|TBC1D13_uc010myl.1_Missense_Mutation_p.L121F	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	302	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0														0.70297	229.347278	233.062585	71	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130606205	130606205	16124	9	C	T	T	28	28	TBC1D13	T	2	2
C9orf114	51490	broad.mit.edu	36	9	130626211	130626211	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130626211C>T	uc004bwd.1	-	c.875G>A	c.(874-876)CGC>CAC	p.R292H	C9orf114_uc010mym.1_Non-coding_Transcript|C9orf114_uc004bwe.1_Missense_Mutation_p.R292H	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	292											0														0.589041	124.228815	124.73345	43	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130626211	130626211	2562	9	C	T	T	27	27	C9orf114	T	1	1
LRRC8A	56262	broad.mit.edu	36	9	130710181	130710181	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130710181G>A	uc004bwl.2	+	c.917G>A	c.(916-918)CGC>CAC	p.R306H	LRRC8A_uc010myp.1_Missense_Mutation_p.R306H|LRRC8A_uc010myq.1_Missense_Mutation_p.R306H	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	306					pre-B cell differentiation	integral to membrane					0														0.138211	36.440348	67.552074	34	212	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130710181	130710181	9397	9	G	A	A	38	38	LRRC8A	A	1	1
NUP188	23511	broad.mit.edu	36	9	130797429	130797429	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130797429G>T	uc004bws.1	+	c.3166G>T	c.(3166-3168)GAC>TAC	p.D1056Y	NUP188_uc004bwu.2_Missense_Mutation_p.D399Y	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1056					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|kidney(1)|breast(1)	6														0.227642	114.351379	131.117727	56	190	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130797429	130797429	11163	9	G	T	T	33	33	NUP188	T	3	3
NUP188	23511	broad.mit.edu	36	9	130807530	130807530	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130807530C>T	uc004bws.1	+	c.4637C>T	c.(4636-4638)GCC>GTC	p.A1546V		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1546					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|kidney(1)|breast(1)	6														0.181034	35.013895	46.10734	21	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130807530	130807530	11163	9	C	T	T	26	26	NUP188	T	2	2
SH3GLB2	56904	broad.mit.edu	36	9	130816872	130816872	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130816872G>A	uc004bww.1	-	c.467C>T	c.(466-468)TCG>TTG	p.S156L	SH3GLB2_uc004bwv.1_Missense_Mutation_p.S156L|SH3GLB2_uc004bwx.1_Missense_Mutation_p.S156L	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	156	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0														0.247788	127.388734	140.471681	56	170	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130816872	130816872	14746	9	G	A	A	37	37	SH3GLB2	A	1	1
FAM73B	84895	broad.mit.edu	36	9	130861268	130861268	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130861268G>T	uc004bxa.1	+	c.690G>T	c.(688-690)CGG>CGT	p.R230R	FAM73B_uc004bwy.1_Non-coding_Transcript|FAM73B_uc004bwz.1_Non-coding_Transcript	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	230						integral to membrane					0														0.155172	11.831429	18.428881	9	49	GG		KEEP	---	---	---	---	capture			Silent	SNP	130861268	130861268	5842	9	G	T	T	41	41	FAM73B	T	3	3
DOLPP1	57171	broad.mit.edu	36	9	130887389	130887389	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130887389C>T	uc004bxc.1	+	c.345C>T	c.(343-345)TTC>TTT	p.F115F	DOLPP1_uc004bxd.1_Silent_p.F115F|DOLPP1_uc004bxe.1_Non-coding_Transcript|DOLPP1_uc004bxf.1_5'Flank	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	115	Helical; (Potential).				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity				0														0.206897	108.067141	128.898625	54	207	CC		KEEP	---	---	---	---	capture			Silent	SNP	130887389	130887389	4888	9	C	T	T	30	30	DOLPP1	T	2	2
DOLPP1	57171	broad.mit.edu	36	9	130888288	130888288	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130888288G>A	uc004bxc.1	+	c.511G>A	c.(511-513)GCT>ACT	p.A171T	DOLPP1_uc004bxd.1_Intron|DOLPP1_uc004bxe.1_Intron|DOLPP1_uc004bxf.1_Missense_Mutation_p.A50T	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	171	Helical; (Potential).				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity				0														0.145455	20.024728	33.337123	16	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130888288	130888288	4888	9	G	A	A	38	38	DOLPP1	A	1	1
PPP2R4	5524	broad.mit.edu	36	9	130930164	130930164	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130930164C>T	uc004bxm.1	+	c.317C>T	c.(316-318)TCG>TTG	p.S106L	PPP2R4_uc004bxl.1_Intron|PPP2R4_uc004bxn.1_Intron|PPP2R4_uc004bxo.1_Intron|PPP2R4_uc010myr.1_Intron|PPP2R4_uc010mys.1_Intron	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	106					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|pancreas(1)	2		Medulloblastoma(224;0.235)				Colon(158;2158 2504 4450 20433)								0.272727	7.020289	7.532421	3	8	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	Missense_Mutation	SNP	130930164	130930164	12827	9	C	T	T	31	31	PPP2R4	T	1	1
MPDZ	8777	broad.mit.edu	36	9	13103982	13103982	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:13103982G>T	uc010mhy.1	-	c.5418C>A	c.(5416-5418)CTC>CTA	p.L1806L	MPDZ_uc003zkx.2_Silent_p.L71L|MPDZ_uc003zky.2_Silent_p.L369L|MPDZ_uc010mhx.1_Silent_p.L657L|MPDZ_uc003zkz.2_Silent_p.L528L|MPDZ_uc010mhz.1_Silent_p.L1802L|MPDZ_uc003zlb.2_Silent_p.L1806L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1835	Ser-rich.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6														0.2	12.822363	15.740543	7	28	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;2.03e-06)	Silent	SNP	13103982	13103982	10114	9	G	T	T	33	33	MPDZ	T	3	3
MPDZ	8777	broad.mit.edu	36	9	13111782	13111782	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:13111782C>A	uc010mhy.1	-	c.5187G>T	c.(5185-5187)CAG>CAT	p.Q1729H	MPDZ_uc003zkx.2_5'Flank|MPDZ_uc003zky.2_Missense_Mutation_p.Q263H|MPDZ_uc010mhx.1_Missense_Mutation_p.Q551H|MPDZ_uc003zkz.2_Missense_Mutation_p.Q422H|MPDZ_uc010mhz.1_Missense_Mutation_p.Q1696H|MPDZ_uc003zlb.2_Missense_Mutation_p.Q1729H|MPDZ_uc010mia.1_Missense_Mutation_p.Q1729H|MPDZ_uc010mib.1_Missense_Mutation_p.Q434H	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1729	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6														0.303922	144.915785	151.951512	62	142	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;2.03e-06)	Missense_Mutation	SNP	13111782	13111782	10114	9	C	A	A	32	32	MPDZ	A	3	3
C9orf50	375759	broad.mit.edu	36	9	131415676	131415676	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:131415676T>C	uc004byc.2	-	c.902A>G	c.(901-903)AAC>AGC	p.N301S	C9orf50_uc004byb.2_Non-coding_Transcript	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	301										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)												0.224852	101.966552	113.718044	38	131	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131415676	131415676	2602	9	T	C	C	60	60	C9orf50	C	4	4
METTL11A	28989	broad.mit.edu	36	9	131434955	131434955	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:131434955G>T	uc004byd.1	+	c.152G>T	c.(151-153)AGG>ATG	p.R51M	METTL11A_uc010myw.1_Intron	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	51					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0														0.189723	85.521183	108.340949	48	205	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131434955	131434955	9884	9	G	T	T	35	35	METTL11A	T	3	3
ASB6	140459	broad.mit.edu	36	9	131441577	131441577	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:131441577G>A	uc004byf.1	-	c.327C>T	c.(325-327)ATC>ATT	p.I109I	ASB6_uc004bye.1_Silent_p.I34I|ASB6_uc004byg.1_Silent_p.I109I|ASB6_uc010myx.1_Silent_p.I109I	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	109	ANK 2.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)												0.25	29.468916	32.411314	13	39	GG		KEEP	---	---	---	---	capture			Silent	SNP	131441577	131441577	1045	9	G	A	A	37	37	ASB6	A	1	1
PRRX2	51450	broad.mit.edu	36	9	131521425	131521425	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:131521425G>A	uc004byh.1	+	c.354G>A	c.(352-354)GCG>GCA	p.A118A		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	118	Homeobox.				regulation of transcription, DNA-dependent	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			pancreas(1)	1		Ovarian(14;0.00556)												0.258065	17.484896	19.130089	8	23	GG		KEEP	---	---	---	---	capture			Silent	SNP	131521425	131521425	13063	9	G	A	A	38	38	PRRX2	A	1	1
TOR1B	27348	broad.mit.edu	36	9	131609332	131609332	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:131609332G>A	uc004byk.1	+	c.510G>A	c.(508-510)GCG>GCA	p.A170A		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	170					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)												0.262032	112.48437	122.071796	49	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	131609332	131609332	16916	9	G	A	A	37	37	TOR1B	A	1	1
TOR1A	1861	broad.mit.edu	36	9	131620849	131620849	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:131620849G>A	uc004byl.1	-	c.616C>T	c.(616-618)CTC>TTC	p.L206F	TOR1A_uc004bym.1_Non-coding_Transcript	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A	206					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)												0.625	189.615945	190.931114	60	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131620849	131620849	16913	9	G	A	A	33	33	TOR1A	A	2	2
C9orf78	51759	broad.mit.edu	36	9	131633024	131633024	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:131633024C>A	uc004byp.1	-	c.489G>T	c.(487-489)GAG>GAT	p.E163D	C9orf78_uc004byo.1_Missense_Mutation_p.E88D|C9orf78_uc004byq.1_Missense_Mutation_p.E109D	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	163											0		Ovarian(14;0.00556)												0.195652	48.7334	60.664319	27	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131633024	131633024	2612	9	C	A	A	32	32	C9orf78	A	3	3
MPDZ	8777	broad.mit.edu	36	9	13206817	13206817	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:13206817C>T	uc010mhy.1	-	c.1246G>A	c.(1246-1248)GTT>ATT	p.V416I	MPDZ_uc010mhz.1_Missense_Mutation_p.V416I|MPDZ_uc003zlb.2_Missense_Mutation_p.V416I|MPDZ_uc010mia.1_Missense_Mutation_p.V416I	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	416	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6														0.311927	86.208517	89.642457	34	75	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;2.03e-06)	Missense_Mutation	SNP	13206817	13206817	10114	9	C	T	T	19	19	MPDZ	T	1	1
FUBP3	8939	broad.mit.edu	36	9	132481640	132481640	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:132481640A>G	uc004bzr.1	+	c.482A>G	c.(481-483)AAC>AGC	p.N161S	FUBP3_uc010mzd.1_Missense_Mutation_p.N101S|FUBP3_uc004bzs.1_Missense_Mutation_p.N74S	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding|transcription activator activity			ovary(1)	1														0.648649	256.237265	258.403372	72	39	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	Missense_Mutation	SNP	132481640	132481640	6344	9	A	G	G	2	2	FUBP3	G	4	4
ABL1	25	broad.mit.edu	36	9	132750470	132750470	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:132750470C>T	uc004bzv.1	+	c.3029C>T	c.(3028-3030)GCC>GTC	p.A1010V	ABL1_uc004bzw.1_Missense_Mutation_p.A991V	NM_007313	NP_009297	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	991	Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(718)|lung(3)|central_nervous_system(1)|skin(1)	723		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)			Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)					381				0.221698	97.431202	112.531149	47	165	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Missense_Mutation	SNP	132750470	132750470	93	9	C	T	T	26	26	ABL1	T	2	2
LAMC3	10319	broad.mit.edu	36	9	132904174	132904174	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:132904174C>T	uc004caa.1	+	c.1079C>T	c.(1078-1080)GCT>GTT	p.A360V		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	360	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)												0.151786	28.696945	41.705396	17	95	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	Missense_Mutation	SNP	132904174	132904174	8939	9	C	T	T	28	28	LAMC3	T	2	2
PPAPDC3	84814	broad.mit.edu	36	9	133155488	133155488	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133155488C>T	uc004cal.1	+	c.283C>T	c.(283-285)CGG>TGG	p.R95W		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	95	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)													0.697761	549.674134	559.022656	187	81	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	Missense_Mutation	SNP	133155488	133155488	12726	9	C	T	T	27	27	PPAPDC3	T	1	1
BAT2L1	84726	broad.mit.edu	36	9	133336158	133336158	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133336158G>T	uc004can.2	+	c.2074G>T	c.(2074-2076)GTG>TTG	p.V692L	BAT2L1_uc010mzj.1_Missense_Mutation_p.V275L|BAT2L1_uc004cao.2_Missense_Mutation_p.V50L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	692							protein binding				0														0.25	45.214376	49.305723	18	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	133336158	133336158	1341	9	G	T	T	44	44	BAT2L1	T	3	3
POMT1	10585	broad.mit.edu	36	9	133376619	133376619	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133376619C>A	uc004cav.1	+	c.996C>A	c.(994-996)GTC>GTA	p.V332V	POMT1_uc004cau.1_Silent_p.V310V|POMT1_uc004caw.1_Silent_p.V256V|POMT1_uc004cax.1_Silent_p.V310V	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	332	MIR 1.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding				0		Myeloproliferative disorder(178;0.204)												0.234568	117.8293	133.513301	57	186	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	Silent	SNP	133376619	133376619	12674	9	C	A	A	32	32	POMT1	A	3	3
POMT1	10585	broad.mit.edu	36	9	133378493	133378493	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133378493G>A	uc004cav.1	+	c.1195G>A	c.(1195-1197)GAC>AAC	p.D399N	POMT1_uc004cau.1_Missense_Mutation_p.D377N|POMT1_uc004caw.1_Missense_Mutation_p.D323N|POMT1_uc004cax.1_Missense_Mutation_p.D377N	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	399	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding				0		Myeloproliferative disorder(178;0.204)												0.671053	152.514441	154.476052	51	25	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	Missense_Mutation	SNP	133378493	133378493	12674	9	G	A	A	41	41	POMT1	A	2	2
RAPGEF1	2889	broad.mit.edu	36	9	133457327	133457327	+	Silent	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133457327G>C	uc004cbb.1	-	c.2250C>G	c.(2248-2250)CTC>CTG	p.L750L	RAPGEF1_uc004cbc.1_Silent_p.L732L|RAPGEF1_uc004cbd.1_Silent_p.L737L	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform b	732	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			ovary(2)|lung(1)|skin(1)	4		Myeloproliferative disorder(178;0.204)												0.20904	97.972623	111.846573	37	140	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	Silent	SNP	133457327	133457327	13503	9	G	C	C	45	45	RAPGEF1	C	3	3
RAPGEF1	2889	broad.mit.edu	36	9	133516048	133516048	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133516048G>A	uc004cbb.1	-	c.174C>T	c.(172-174)TCC>TCT	p.S58S	RAPGEF1_uc004cbc.1_Silent_p.S40S|RAPGEF1_uc004cbd.1_Silent_p.S45S	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform b	40					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			ovary(2)|lung(1)|skin(1)	4		Myeloproliferative disorder(178;0.204)												0.175879	137.41279	176.842185	70	328	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	Silent	SNP	133516048	133516048	13503	9	G	A	A	39	39	RAPGEF1	A	1	1
MED27	9442	broad.mit.edu	36	9	133725776	133725776	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133725776G>A	uc004cbe.1	-	c.906C>T	c.(904-906)CTC>CTT	p.L302L	MED27_uc004cbf.1_Silent_p.L266L	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	302					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity				0		Myeloproliferative disorder(178;0.206)				Colon(41;784 923 6932 42329 52483)								0.25	10.879072	12.006594	5	15	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	Silent	SNP	133725776	133725776	9834	9	G	A	A	37	37	MED27	A	1	1
MED27	9442	broad.mit.edu	36	9	133759143	133759143	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133759143G>A	uc004cbe.1	-	c.631C>T	c.(631-633)CGA>TGA	p.R211*	MED27_uc004cbf.1_Intron	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	211					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity				0		Myeloproliferative disorder(178;0.206)				Colon(41;784 923 6932 42329 52483)								0.265487	71.396889	77.014782	30	83	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	Nonsense_Mutation	SNP	133759143	133759143	9834	9	G	A	A	37	37	MED27	A	5	1
NTNG2	84628	broad.mit.edu	36	9	134063233	134063233	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134063233G>A	uc004cbh.2	+	c.273G>A	c.(271-273)CCG>CCA	p.P91P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2	91	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0														0.681034	231.343713	234.718308	79	37	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	Silent	SNP	134063233	134063233	11110	9	G	A	A	38	38	NTNG2	A	1	1
NTNG2	84628	broad.mit.edu	36	9	134063636	134063636	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134063636G>A	uc004cbh.2	+	c.676G>A	c.(676-678)GAC>AAC	p.D226N		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2	226	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0														0.644578	318.051199	321.109116	107	59	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	Missense_Mutation	SNP	134063636	134063636	11110	9	G	A	A	37	37	NTNG2	A	1	1
NTNG2	84628	broad.mit.edu	36	9	134092142	134092142	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134092142G>A	uc004cbh.2	+	c.943G>A	c.(943-945)GAC>AAC	p.D315N		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2	315	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane					0														0.272727	42.372184	45.414504	18	48	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	Missense_Mutation	SNP	134092142	134092142	11110	9	G	A	A	37	37	NTNG2	A	1	1
SETX	23064	broad.mit.edu	36	9	134146698	134146698	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134146698G>A	uc004cbk.1	-	c.6631C>T	c.(6631-6633)CTC>TTC	p.L2211F	SETX_uc004cbj.1_Missense_Mutation_p.L1830F|SETX_uc010mzt.1_Missense_Mutation_p.L1830F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2211					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)												0.204878	98.127403	114.69703	42	163	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	Missense_Mutation	SNP	134146698	134146698	14630	9	G	A	A	34	34	SETX	A	2	2
SETX	23064	broad.mit.edu	36	9	134153833	134153833	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134153833G>A	uc004cbk.1	-	c.6133C>T	c.(6133-6135)CGA>TGA	p.R2045*	SETX_uc004cbj.1_Nonsense_Mutation_p.R1664*|SETX_uc010mzt.1_Nonsense_Mutation_p.R1664*	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2045					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)												0.717172	215.853247	220.043567	71	28	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	Nonsense_Mutation	SNP	134153833	134153833	14630	9	G	A	A	40	40	SETX	A	5	1
SETX	23064	broad.mit.edu	36	9	134192655	134192655	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134192655G>A	uc004cbk.1	-	c.4151C>T	c.(4150-4152)TCT>TTT	p.S1384F	SETX_uc004cbj.1_Missense_Mutation_p.S1003F|SETX_uc010mzt.1_Missense_Mutation_p.S1003F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1384					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)												0.201987	135.898851	160.823066	61	241	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	Missense_Mutation	SNP	134192655	134192655	14630	9	G	A	A	33	33	SETX	A	2	2
SETX	23064	broad.mit.edu	36	9	134193047	134193047	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134193047C>A	uc004cbk.1	-	c.3759G>T	c.(3757-3759)CAG>CAT	p.Q1253H	SETX_uc004cbj.1_Missense_Mutation_p.Q872H|SETX_uc010mzt.1_Missense_Mutation_p.Q872H	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1253					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)												0.193103	152.714839	191.000381	84	351	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	Missense_Mutation	SNP	134193047	134193047	14630	9	C	A	A	32	32	SETX	A	3	3
SETX	23064	broad.mit.edu	36	9	134195339	134195339	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134195339G>A	uc004cbk.1	-	c.1467C>T	c.(1465-1467)GTC>GTT	p.V489V	SETX_uc004cbj.1_Silent_p.V108V|SETX_uc010mzt.1_Silent_p.V108V	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	489					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)												0.662551	486.428034	492.109008	161	82	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	Silent	SNP	134195339	134195339	14630	9	G	A	A	37	37	SETX	A	1	1
C9orf171	389799	broad.mit.edu	36	9	134402811	134402811	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134402811C>A	uc004cbn.1	+	c.635C>A	c.(634-636)CCT>CAT	p.P212H	C9orf171_uc004cbo.1_Missense_Mutation_p.P176H	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	212										ovary(4)|large_intestine(1)	5														0.657895	441.399903	446.445692	150	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134402811	134402811	2585	9	C	A	A	24	24	C9orf171	A	3	3
DDX31	64794	broad.mit.edu	36	9	134535454	134535454	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134535454C>T	uc004cbq.1	-	c.4G>A	c.(4-6)GCG>ACG	p.A2T	DDX31_uc010mzu.1_Missense_Mutation_p.A2T|DDX31_uc004cbr.1_Missense_Mutation_p.A2T|DDX31_uc004cbs.1_Missense_Mutation_p.A2T|GTF3C4_uc010mzv.1_5'Flank|GTF3C4_uc010mzw.1_5'Flank	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	2						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1														0.567568	59.472598	59.619179	21	16	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	Missense_Mutation	SNP	134535454	134535454	4527	9	C	T	T	26	26	DDX31	T	2	2
GTF3C4	9329	broad.mit.edu	36	9	134544159	134544159	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134544159C>T	uc010mzv.1	+	c.1332C>T	c.(1330-1332)GAC>GAT	p.D444D	GTF3C4_uc010mzw.1_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide	444					5S class rRNA transcription from RNA polymerase III type 1 promoter|transcription initiation from RNA polymerase III promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						Pancreas(142;417 1875 11086 31973 47667)								0.664921	378.561528	383.156125	127	64	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	Silent	SNP	134544159	134544159	7155	9	C	T	T	19	19	GTF3C4	T	1	1
C9orf9	11092	broad.mit.edu	36	9	134749180	134749180	+	Missense_Mutation	SNP	C	T	T	rs34208349	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134749180C>T	uc004cbx.1	+	c.25C>T	c.(25-27)CGC>TGC	p.R9C	C9orf9_uc004cby.1_Missense_Mutation_p.R9C|C9orf9_uc004cbz.1_Missense_Mutation_p.R9C	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Rsb-66 protein	9								p.?(1)			0														0.656388	446.875148	451.765773	149	78	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)	Missense_Mutation	SNP	134749180	134749180	2620	9	C	T	T	31	31	C9orf9	T	1	1
TSC1	7248	broad.mit.edu	36	9	134777601	134777601	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134777601C>A	uc004cca.1	-	c.802G>T	c.(802-804)GAA>TAA	p.E268*	TSC1_uc004ccb.2_Nonsense_Mutation_p.E268*|TSC1_uc004ccc.1_Nonsense_Mutation_p.E268*|TSC1_uc004ccd.1_Nonsense_Mutation_p.E268*|TSC1_uc004cce.1_Nonsense_Mutation_p.E268*	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	268					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(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|bone(1)	9										536				0.207692	53.144323	63.44395	27	103	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	Nonsense_Mutation	SNP	134777601	134777601	17156	9	C	A	A	32	32	TSC1	A	5	3
TSC1	7248	broad.mit.edu	36	9	134790853	134790853	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134790853G>A	uc004cca.1	-	c.305C>T	c.(304-306)TCT>TTT	p.S102F	TSC1_uc004ccb.2_Missense_Mutation_p.S102F|TSC1_uc004ccc.1_Missense_Mutation_p.S102F|TSC1_uc004ccd.1_Missense_Mutation_p.S102F|TSC1_uc004cce.1_Missense_Mutation_p.S102F	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	102					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			lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|bone(1)	9										536				0.415525	269.377804	270.744399	91	128	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	Missense_Mutation	SNP	134790853	134790853	17156	9	G	A	A	33	33	TSC1	A	2	2
GFI1B	8328	broad.mit.edu	36	9	134856152	134856152	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134856152G>A	uc004ccg.1	+	c.887G>A	c.(886-888)CGC>CAC	p.R296H	GFI1B_uc010mzy.1_Missense_Mutation_p.R250H	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	296	C2H2-type 5.|Mediates interaction with GATA1.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription, DNA-dependent	nucleus	DNA binding|protein binding|specific RNA polymerase II transcription factor activity|zinc ion binding			large_intestine(1)|central_nervous_system(1)	2														0.173611	42.99503	57.47486	25	119	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	Missense_Mutation	SNP	134856152	134856152	6608	9	G	A	A	38	38	GFI1B	A	1	1
CEL	1056	broad.mit.edu	36	9	134932402	134932402	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134932402C>T	uc010naa.1	+	c.893C>T	c.(892-894)GCA>GTA	p.A298V		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	295					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification|regulation of synaptic transmission|triglyceride metabolic process		acylglycerol lipase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1														0.660377	98.324457	99.525853	35	18	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	134932402	134932402	3342	9	C	T	T	25	25	CEL	T	2	2
RALGDS	5900	broad.mit.edu	36	9	134966881	134966881	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134966881C>T	uc004cco.1	-	c.2301G>A	c.(2299-2301)ACG>ACA	p.T767T	RALGDS_uc004ccs.1_Silent_p.T712T|RALGDS_uc004ccn.1_5'UTR|RALGDS_uc004ccp.1_Non-coding_Transcript|RALGDS_uc004ccq.1_Silent_p.T755T|RALGDS_uc004ccr.1_Silent_p.T766T|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccu.1_Silent_p.T536T|RALGDS_uc004ccv.1_Missense_Mutation_p.A595T	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	767					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)	2						Melanoma(189;762 2088 15384 21931 52515)				815				0.288288	75.770777	80.223123	32	79	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	Silent	SNP	134966881	134966881	13476	9	C	T	T	27	27	RALGDS	T	1	1
GBGT1	26301	broad.mit.edu	36	9	135018846	135018846	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135018846G>T	uc004ccw.1	-	c.983C>A	c.(982-984)CCC>CAC	p.P328H	GBGT1_uc004ccx.1_Missense_Mutation_p.P281H|GBGT1_uc010nab.1_3'UTR|GBGT1_uc004ccy.1_3'UTR|GBGT1_uc010nac.1_Missense_Mutation_p.P192H	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN	globoside	328	Lumenal (Potential).				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding				0														0.245283	186.935974	208.882625	91	280	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	Missense_Mutation	SNP	135018846	135018846	6538	9	G	T	T	43	43	GBGT1	T	3	3
GBGT1	26301	broad.mit.edu	36	9	135019130	135019130	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135019130G>A	uc004ccw.1	-	c.699C>T	c.(697-699)GCC>GCT	p.A233A	GBGT1_uc004ccx.1_Silent_p.A186A|GBGT1_uc010nab.1_3'UTR|GBGT1_uc004ccy.1_3'UTR|GBGT1_uc010nac.1_Silent_p.A97A	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN	globoside	233	Lumenal (Potential).				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding				0														0.164706	47.132553	65.251907	28	142	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	Silent	SNP	135019130	135019130	6538	9	G	A	A	39	39	GBGT1	A	1	1
OBP2B	29989	broad.mit.edu	36	9	135072480	135072480	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135072480G>A	uc004ccz.1	-	c.342C>T	c.(340-342)TGC>TGT	p.C114C	OBP2B_uc010nad.1_Non-coding_Transcript|OBP2B_uc010nae.1_Non-coding_Transcript	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	114					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity				0														0.321429	86.859238	90.032342	36	76	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	Silent	SNP	135072480	135072480	11216	9	G	A	A	46	46	OBP2B	A	2	2
ABO	28	broad.mit.edu	36	9	135121400	135121400	+	Missense_Mutation	SNP	C	T	T	rs56258249	unknown	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135121400C>T	uc004cda.1	-	c.539G>A	c.(538-540)CGC>CAC	p.R180H	ABO_uc010naf.1_Missense_Mutation_p.R39H|ABO_uc010nag.1_Missense_Mutation_p.R39H	NM_020469	NP_065202	P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha	180	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding				0														0.326087	34.82329	36.050526	15	31	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	Missense_Mutation	SNP	135121400	135121400	98	9	C	T	T	27	27	ABO	T	1	1
SURF6	6838	broad.mit.edu	36	9	135190415	135190415	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135190415C>T	uc004cdb.2	-	c.353G>A	c.(352-354)CGA>CAA	p.R118Q		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	118						granular component	DNA binding|RNA binding			ovary(1)	1														0.227848	38.107387	43.478741	18	61	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	Missense_Mutation	SNP	135190415	135190415	15926	9	C	T	T	31	31	SURF6	T	1	1
MED22	6837	broad.mit.edu	36	9	135198281	135198281	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135198281G>T	uc004cdc.1	-	c.498C>A	c.(496-498)CTC>CTA	p.L166L	MED22_uc004cdd.1_3'UTR	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	166					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding|RNA polymerase II transcription mediator activity			ovary(1)	1														0.389831	56.613042	57.239148	23	36	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	Silent	SNP	135198281	135198281	9829	9	G	T	T	33	33	MED22	T	3	3
SURF4	6836	broad.mit.edu	36	9	135221628	135221628	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135221628C>A	uc004cdj.1	-	c.452G>T	c.(451-453)AGC>ATC	p.S151I	SURF4_uc010nal.1_Intron	NM_033161	NP_149351	O15260	SURF4_HUMAN	surfeit 4	151						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding				0														0.176471	19.654634	26.368624	12	56	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	Missense_Mutation	SNP	135221628	135221628	15925	9	C	A	A	28	28	SURF4	A	3	3
C9orf96	169436	broad.mit.edu	36	9	135241228	135241228	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135241228C>T	uc004cdk.1	+	c.226C>T	c.(226-228)CCA>TCA	p.P76S	C9orf96_uc004cdl.1_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	76	Protein kinase.				protein phosphorylation		ATP binding|protein kinase activity			central_nervous_system(2)|stomach(1)	3										527				0.183673	61.94882	80.312524	36	160	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	Missense_Mutation	SNP	135241228	135241228	2624	9	C	T	T	26	26	C9orf96	T	2	2
C9orf96	169436	broad.mit.edu	36	9	135252153	135252153	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135252153C>T	uc004cdk.1	+	c.908C>T	c.(907-909)TCC>TTC	p.S303F	C9orf96_uc004cdl.1_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	303					protein phosphorylation		ATP binding|protein kinase activity			central_nervous_system(2)|stomach(1)	3										527				0.258824	50.918865	55.393246	22	63	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	Missense_Mutation	SNP	135252153	135252153	2624	9	C	T	T	30	30	C9orf96	T	2	2
ADAMTS13	11093	broad.mit.edu	36	9	135298424	135298424	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135298424C>T	uc004cdv.2	+	c.2341C>T	c.(2341-2343)CCC>TCC	p.P781S	ADAMTS13_uc004cdp.2_Intron|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Missense_Mutation_p.P306S|ADAMTS13_uc004cdt.1_Missense_Mutation_p.P781S|ADAMTS13_uc004cdu.1_Missense_Mutation_p.P750S|ADAMTS13_uc004cdw.2_Missense_Mutation_p.P781S|ADAMTS13_uc004cdx.2_Missense_Mutation_p.P750S|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.2_Missense_Mutation_p.P451S	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	781	TSP type-1 3.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6														0.333333	10.495529	10.790972	4	8	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	Missense_Mutation	SNP	135298424	135298424	259	9	C	T	T	26	26	ADAMTS13	T	2	2
ADAMTS13	11093	broad.mit.edu	36	9	135310346	135310346	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135310346G>A	uc004cdv.2	+	c.3368G>A	c.(3367-3369)CGT>CAT	p.R1123H	ADAMTS13_uc004cdp.2_Missense_Mutation_p.R350H|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R1123H|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R1092H|ADAMTS13_uc004cdw.2_Missense_Mutation_p.R1123H|ADAMTS13_uc004cdx.2_Missense_Mutation_p.R1092H|ADAMTS13_uc004cdz.2_Missense_Mutation_p.R793H|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1123	TSP type-1 8.		R -> C (in TTP; impairs protein secretion).		cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6														0.246154	136.974025	152.233824	64	196	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	Missense_Mutation	SNP	135310346	135310346	259	9	G	A	A	40	40	ADAMTS13	A	1	1
DBH	1621	broad.mit.edu	36	9	135513341	135513341	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135513341G>A	uc004cel.1	+	c.1805G>A	c.(1804-1806)CGA>CAA	p.R602Q		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta-hydroxylase precursor	602	Intragranular (Potential).				hormone biosynthetic process|oxidation-reduction 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					Dopamine(DB00988)|Vitamin C(DB00126)									0.434286	194.906677	195.590039	76	99	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Missense_Mutation	SNP	135513341	135513341	4421	9	G	A	A	37	37	DBH	A	1	1
VAV2	7410	broad.mit.edu	36	9	135661037	135661037	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135661037C>T	uc004ces.1	-	c.823G>A	c.(823-825)GAT>AAT	p.D275N	VAV2_uc004cer.1_Missense_Mutation_p.D270N	NM_003371	NP_003362	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	275	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)	7														0.320755	42.651784	44.166943	17	36	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	Missense_Mutation	SNP	135661037	135661037	17697	9	C	T	T	31	31	VAV2	T	1	1
BRD3	8019	broad.mit.edu	36	9	135907302	135907302	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135907302C>T	uc004cew.1	-	c.298G>A	c.(298-300)GAA>AAA	p.E100K	BRD3_uc004cex.1_Missense_Mutation_p.E100K	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	100	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8										497				0.182432	49.534473	63.556689	27	121	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	Missense_Mutation	SNP	135907302	135907302	1534	9	C	T	T	31	31	BRD3	T	1	1
WDR5	11091	broad.mit.edu	36	9	135996914	135996914	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135996914C>T	uc004cey.1	+	c.287C>T	c.(286-288)TCG>TTG	p.S96L	WDR5_uc004cez.1_Missense_Mutation_p.S96L	NM_017588	NP_438172	P61964	WDR5_HUMAN	WD repeat domain 5	96	WD 2.				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding				0		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)												0.598425	231.415173	232.489745	76	51	CC		KEEP	---	---	---	---	capture		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	Missense_Mutation	SNP	135996914	135996914	17876	9	C	T	T	31	31	WDR5	T	1	1
WDR5	11091	broad.mit.edu	36	9	135996980	135996980	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135996980C>T	uc004cey.1	+	c.353C>T	c.(352-354)TCG>TTG	p.S118L	WDR5_uc004cez.1_Missense_Mutation_p.S118L	NM_017588	NP_438172	P61964	WDR5_HUMAN	WD repeat domain 5	118	WD 2.				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding				0		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)												0.222222	50.354152	58.01481	24	84	CC		KEEP	---	---	---	---	capture		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	Missense_Mutation	SNP	135996980	135996980	17876	9	C	T	T	31	31	WDR5	T	1	1
WDR5	11091	broad.mit.edu	36	9	135997590	135997590	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135997590C>T	uc004cey.1	+	c.456C>T	c.(454-456)AGC>AGT	p.S152S	WDR5_uc004cez.1_Silent_p.S152S	NM_017588	NP_438172	P61964	WDR5_HUMAN	WD repeat domain 5	152	WD 3.				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding				0		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)												0.171271	48.92811	67.417152	31	150	CC		KEEP	---	---	---	---	capture		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	Silent	SNP	135997590	135997590	17876	9	C	T	T	27	27	WDR5	T	1	1
COL5A1	1289	broad.mit.edu	36	9	136731718	136731718	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:136731718C>T	uc004cfe.1	+	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	140	TSP N-terminal.|Laminin G-like.				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			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)												0.226519	85.781692	98.216097	41	140	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	136731718	136731718	3834	9	C	T	T	19	19	COL5A1	T	1	1
COL5A1	1289	broad.mit.edu	36	9	136760355	136760355	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:136760355G>A	uc004cfe.1	+	c.805G>A	c.(805-807)GAG>AAG	p.E269K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	269	Nonhelical 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			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)												0.185819	137.230404	175.033841	76	333	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	136760355	136760355	3834	9	G	A	A	37	37	COL5A1	A	1	1
FCN1	2219	broad.mit.edu	36	9	136941706	136941706	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:136941706G>T	uc004cfi.1	-	c.740C>A	c.(739-741)TCT>TAT	p.S247Y		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	247	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)												0.2	144.95398	179.748451	83	332	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	Missense_Mutation	SNP	136941706	136941706	6028	9	G	T	T	33	33	FCN1	T	3	3
KIAA0649	9858	broad.mit.edu	36	9	137516511	137516511	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137516511G>T	uc004cfr.1	+	c.334G>T	c.(334-336)GAA>TAA	p.E112*	KIAA0649_uc010nas.1_Nonsense_Mutation_p.E112*	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	112						nucleolus	protein binding			ovary(1)|central_nervous_system(1)	2														0.20603	75.261667	91.219562	41	158	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	Nonsense_Mutation	SNP	137516511	137516511	8494	9	G	T	T	41	41	KIAA0649	T	5	3
KIAA0649	9858	broad.mit.edu	36	9	137517203	137517203	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137517203C>T	uc004cfr.1	+	c.1026C>T	c.(1024-1026)AGC>AGT	p.S342S	KIAA0649_uc010nas.1_Silent_p.S342S	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	342						nucleolus	protein binding			ovary(1)|central_nervous_system(1)	2														0.225641	90.704463	104.186205	44	151	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	Silent	SNP	137517203	137517203	8494	9	C	T	T	27	27	KIAA0649	T	1	1
KIAA0649	9858	broad.mit.edu	36	9	137518184	137518184	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137518184C>T	uc004cfr.1	+	c.2007C>T	c.(2005-2007)GAC>GAT	p.D669D	KIAA0649_uc010nas.1_Silent_p.D669D	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	669						nucleolus	protein binding			ovary(1)|central_nervous_system(1)	2														0.201923	40.264181	48.817494	21	83	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	Silent	SNP	137518184	137518184	8494	9	C	T	T	19	19	KIAA0649	T	1	1
LCN1	3933	broad.mit.edu	36	9	137556801	137556801	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137556801A>C	uc004cfz.1	+	c.508A>C	c.(508-510)ACC>CCC	p.T170P	LCN1_uc004cga.1_Missense_Mutation_p.T170P	NM_002297	NP_002288	P31025	LCN1_HUMAN	lipocalin 1 precursor	170					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)												0.210526	72.739938	83.038781	28	105	AA		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	137556801	137556801	9004	9	A	C	C	2	2	LCN1	C	4	4
KCNT1	57582	broad.mit.edu	36	9	137788572	137788572	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137788572G>A	uc004cgn.1	+	c.573G>A	c.(571-573)ACG>ACA	p.T191T	KCNT1_uc010nbf.1_Silent_p.T143T|KCNT1_uc004cgo.1_5'UTR	NM_020822	NP_065873	B9EGP2	B9EGP2_HUMAN	potassium channel, subfamily T, member 1	191						membrane	binding|calcium-activated potassium channel activity|catalytic activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)												0.239766	90.680046	101.261449	41	130	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	Silent	SNP	137788572	137788572	8396	9	G	A	A	37	37	KCNT1	A	1	1
KCNT1	57582	broad.mit.edu	36	9	137791371	137791371	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137791371C>T	uc004cgn.1	+	c.880C>T	c.(880-882)CGG>TGG	p.R294W	KCNT1_uc010nbf.1_Missense_Mutation_p.R249W|KCNT1_uc004cgo.1_Missense_Mutation_p.R43W	NM_020822	NP_065873	B9EGP2	B9EGP2_HUMAN	potassium channel, subfamily T, member 1	294						membrane	binding|calcium-activated potassium channel activity|catalytic activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)												0.354167	85.626637	87.423962	34	62	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	Missense_Mutation	SNP	137791371	137791371	8396	9	C	T	T	27	27	KCNT1	T	1	1
CAMSAP1	157922	broad.mit.edu	36	9	137853074	137853074	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137853074G>A	uc004cgr.2	-	c.3254C>T	c.(3253-3255)GCT>GTT	p.A1085V	CAMSAP1_uc004cgq.2_Missense_Mutation_p.A975V|CAMSAP1_uc010nbg.1_Missense_Mutation_p.A807V	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1085						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.227642	63.738242	72.110769	28	95	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	Missense_Mutation	SNP	137853074	137853074	2728	9	G	A	A	34	34	CAMSAP1	A	2	2
CAMSAP1	157922	broad.mit.edu	36	9	137854043	137854043	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137854043C>T	uc004cgr.2	-	c.2285G>A	c.(2284-2286)AGC>AAC	p.S762N	CAMSAP1_uc004cgq.2_Missense_Mutation_p.S652N|CAMSAP1_uc010nbg.1_Missense_Mutation_p.S484N	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	762						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.207965	106.191471	124.051256	47	179	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	Missense_Mutation	SNP	137854043	137854043	2728	9	C	T	T	28	28	CAMSAP1	T	2	2
UBAC1	10422	broad.mit.edu	36	9	137971403	137971403	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137971403C>A	uc004cgt.1	-	c.900G>T	c.(898-900)ATG>ATT	p.M300I	UBAC1_uc004cgs.1_Missense_Mutation_p.M300I|UBAC1_uc004cgu.1_Non-coding_Transcript	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	300	UBA 2.					Golgi apparatus|plasma membrane	protein binding				0		Myeloproliferative disorder(178;0.0511)				NSCLC(78;973 1398 27381 29552 42415)								0.221154	97.327947	112.224786	46	162	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	Missense_Mutation	SNP	137971403	137971403	17391	9	C	A	A	21	21	UBAC1	A	3	3
UBAC1	10422	broad.mit.edu	36	9	137977966	137977966	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137977966C>A	uc004cgt.1	-	c.514G>T	c.(514-516)GAT>TAT	p.D172Y	UBAC1_uc004cgs.1_Missense_Mutation_p.D172Y|UBAC1_uc004cgu.1_Non-coding_Transcript	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	172						Golgi apparatus|plasma membrane	protein binding				0		Myeloproliferative disorder(178;0.0511)				NSCLC(78;973 1398 27381 29552 42415)								0.396825	129.61732	130.792098	50	76	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	Missense_Mutation	SNP	137977966	137977966	17391	9	C	A	A	32	32	UBAC1	A	3	3
DNLZ	728489	broad.mit.edu	36	9	138376399	138376399	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138376399G>A	uc004chf.1	-	c.423C>T	c.(421-423)GGC>GGT	p.G141G		NM_001080849	NP_001074318	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	141	DNL-type.						metal ion binding				0		Myeloproliferative disorder(178;0.0821)												0.212766	18.023707	21.541467	10	37	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)	Silent	SNP	138376399	138376399	4852	9	G	A	A	38	38	DNLZ	A	1	1
CARD9	64170	broad.mit.edu	36	9	138382074	138382074	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138382074C>T	uc004chg.2	-	c.1105G>A	c.(1105-1107)GCA>ACA	p.A369T		NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	369	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			lung(1)|pancreas(1)	2		Myeloproliferative disorder(178;0.0511)								368				0.3	26.779037	28.212218	12	28	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	Missense_Mutation	SNP	138382074	138382074	2771	9	C	T	T	27	27	CARD9	T	1	1
SDCCAG3	10807	broad.mit.edu	36	9	138421458	138421458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138421458C>T	uc004chi.1	-	c.779G>A	c.(778-780)GGA>GAA	p.G260E	SDCCAG3_uc004chj.1_Missense_Mutation_p.G237E|SDCCAG3_uc004chk.1_Missense_Mutation_p.G187E	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	260						cytoplasm					0		Myeloproliferative disorder(178;0.0511)												0.197531	28.941913	35.85947	16	65	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	Missense_Mutation	SNP	138421458	138421458	14443	9	C	T	T	30	30	SDCCAG3	T	2	2
SDCCAG3	10807	broad.mit.edu	36	9	138422147	138422147	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138422147C>A	uc004chi.1	-	c.354G>T	c.(352-354)AAG>AAT	p.K118N	SDCCAG3_uc004chj.1_Missense_Mutation_p.K95N|SDCCAG3_uc004chk.1_Missense_Mutation_p.K45N|PMPCA_uc010nbk.1_5'Flank|PMPCA_uc004chl.1_5'Flank|PMPCA_uc010nbl.1_5'Flank	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	118						cytoplasm					0		Myeloproliferative disorder(178;0.0511)												0.248148	143.776396	159.373224	67	203	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	Missense_Mutation	SNP	138422147	138422147	14443	9	C	A	A	32	32	SDCCAG3	A	3	3
SEC16A	9919	broad.mit.edu	36	9	138462399	138462399	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138462399C>A	uc004chx.1	-	c.6348G>T	c.(6346-6348)AAG>AAT	p.K2116N	SEC16A_uc004chp.1_5'Flank|SEC16A_uc004chq.1_5'Flank|SEC16A_uc004chr.1_Missense_Mutation_p.K122N|SEC16A_uc004chs.1_5'UTR|SEC16A_uc004cht.1_Missense_Mutation_p.K147N|SEC16A_uc004chu.1_Missense_Mutation_p.K301N|SEC16A_uc004chv.2_Missense_Mutation_p.K1506N|SEC16A_uc004chw.1_Missense_Mutation_p.K2116N|SEC16A_uc010nbn.1_Missense_Mutation_p.K2116N	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1938	Required for interaction with SEC23A.|Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)												0.196078	19.117106	23.511377	10	41	CC		KEEP	---	---	---	---	capture		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	Missense_Mutation	SNP	138462399	138462399	14472	9	C	A	A	32	32	SEC16A	A	3	3
SEC16A	9919	broad.mit.edu	36	9	138465566	138465566	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138465566C>T	uc004chx.1	-	c.6275G>A	c.(6274-6276)GGA>GAA	p.G2092E	SEC16A_uc004chr.1_5'Flank|SEC16A_uc004chs.1_5'UTR|SEC16A_uc004cht.1_Missense_Mutation_p.G123E|SEC16A_uc004chu.1_Missense_Mutation_p.G277E|SEC16A_uc004chv.2_Missense_Mutation_p.G1482E|SEC16A_uc004chw.1_Missense_Mutation_p.G2092E|SEC16A_uc010nbn.1_Missense_Mutation_p.G2092E	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1914	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)												0.425	46.464232	46.661256	17	23	CC		KEEP	---	---	---	---	capture		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	Missense_Mutation	SNP	138465566	138465566	14472	9	C	T	T	30	30	SEC16A	T	2	2
SEC16A	9919	broad.mit.edu	36	9	138489819	138489819	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138489819C>T	uc004chx.1	-	c.2070G>A	c.(2068-2070)CCG>CCA	p.P690P	SEC16A_uc004chv.2_Silent_p.P317P|SEC16A_uc004chw.1_Silent_p.P690P|SEC16A_uc010nbn.1_Silent_p.P690P|SEC16A_uc010nbo.1_Silent_p.P690P	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	512					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)												0.176471	14.509909	19.492864	9	42	CC		KEEP	---	---	---	---	capture		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	Silent	SNP	138489819	138489819	14472	9	C	T	T	27	27	SEC16A	T	1	1
LCN10	414332	broad.mit.edu	36	9	138754232	138754232	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138754232G>T	uc004civ.1	-	c.565C>A	c.(565-567)CCG>ACG	p.P189T	LCN10_uc004ciu.1_Non-coding_Transcript|LCN10_uc010nbq.1_Missense_Mutation_p.P176T|LCN10_uc004ciw.1_Non-coding_Transcript	NM_001001712	NP_001001712	Q6JVE6	LCN10_HUMAN	lipocalin 10	176					transport	extracellular region	binding			large_intestine(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)												0.882353	46.234651	48.675472	15	2	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)	Missense_Mutation	SNP	138754232	138754232	9005	9	G	T	T	43	43	LCN10	T	3	3
LCN8	138307	broad.mit.edu	36	9	138770840	138770840	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138770840T>C	uc004cjb.1	-	c.181A>G	c.(181-183)ATC>GTC	p.I61V	LCN8_uc004cja.1_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.I61V	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	lipocalin 8	84					transport	extracellular region	binding			pancreas(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)												0.177686	94.982402	118.662688	43	199	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	Missense_Mutation	SNP	138770840	138770840	9010	9	T	C	C	50	50	LCN8	C	4	4
LCN15	389812	broad.mit.edu	36	9	138778203	138778203	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138778203G>A	uc004cjd.1	-	c.176C>T	c.(175-177)TCC>TTC	p.S59F		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	MSFL2541	59					lipid metabolic process	extracellular region	binding|transporter activity				0														0.205298	120.464737	144.832917	62	240	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138778203	138778203	9007	9	G	A	A	41	41	LCN15	A	2	2
KIAA1984	84960	broad.mit.edu	36	9	138814752	138814752	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138814752G>A	uc004cjf.1	+	c.529G>A	c.(529-531)GAT>AAT	p.D177N		NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	177	Potential.									ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)												0.225806	15.707777	17.849189	7	24	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	Missense_Mutation	SNP	138814752	138814752	8577	9	G	A	A	41	41	KIAA1984	A	2	2
C9orf86	55684	broad.mit.edu	36	9	138854464	138854464	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138854464G>T	uc004cjj.1	+	c.1971G>T	c.(1969-1971)AAG>AAT	p.K657N	C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cji.1_Missense_Mutation_p.K656N|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.K541N|C9orf86_uc004cjn.1_Missense_Mutation_p.K450N	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1	656	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)												0.171717	24.787693	34.917979	17	82	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	Missense_Mutation	SNP	138854464	138854464	2618	9	G	T	T	33	33	C9orf86	T	3	3
C9orf172	389813	broad.mit.edu	36	9	138858750	138858750	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138858750G>A	uc010nbt.1	+	c.63G>A	c.(61-63)GCG>GCA	p.A21A		NM_001080482	NP_001073951	C9J069	CI172_HUMAN	similar to CG15216-PA	21											0														0.209302	18.251825	21.615796	9	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	138858750	138858750	2586	9	G	A	A	37	37	C9orf172	A	1	1
TRAF2	7186	broad.mit.edu	36	9	138940130	138940130	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138940130G>A	uc010nbu.1	+	c.1462G>A	c.(1462-1464)GAT>AAT	p.D488N	TRAF2_uc004cjv.1_Missense_Mutation_p.D488N|TRAF2_uc010nbw.1_Missense_Mutation_p.D463N	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	488	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|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 activation|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)								212				0.162393	29.744187	42.434364	19	98	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	Missense_Mutation	SNP	138940130	138940130	16982	9	G	A	A	37	37	TRAF2	A	1	1
FBXW5	54461	broad.mit.edu	36	9	138955596	138955596	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138955596G>A	uc004cjx.1	-	c.1385C>T	c.(1384-1386)GCG>GTG	p.A462V	FBXW5_uc010nbx.1_Non-coding_Transcript|FBXW5_uc004cjy.1_Missense_Mutation_p.A210V|FBXW5_uc004cjz.1_Missense_Mutation_p.A192V	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	462							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)												0.568627	81.572444	81.780945	29	22	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	Missense_Mutation	SNP	138955596	138955596	6005	9	G	A	A	38	38	FBXW5	A	1	1
FBXW5	54461	broad.mit.edu	36	9	138956562	138956562	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138956562C>T	uc004cjx.1	-	c.853G>A	c.(853-855)GAC>AAC	p.D285N	FBXW5_uc010nbx.1_Non-coding_Transcript|FBXW5_uc004cjy.1_Missense_Mutation_p.D33N|FBXW5_uc004cjz.1_Missense_Mutation_p.D33N|C8G_uc004cka.2_5'Flank	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	285							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)												0.333333	15.243153	15.686388	6	12	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	Missense_Mutation	SNP	138956562	138956562	6005	9	C	T	T	31	31	FBXW5	T	1	1
FBXW5	54461	broad.mit.edu	36	9	138957101	138957101	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138957101G>A	uc004cjx.1	-	c.467C>T	c.(466-468)TCG>TTG	p.S156L	FBXW5_uc010nbx.1_5'Flank|FBXW5_uc004cjy.1_5'UTR|FBXW5_uc004cjz.1_5'UTR|C8G_uc004cka.2_5'Flank	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	156							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)												0.216418	59.215924	69.149583	29	105	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	Missense_Mutation	SNP	138957101	138957101	6005	9	G	A	A	37	37	FBXW5	A	1	1
FBXW5	54461	broad.mit.edu	36	9	138957777	138957777	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138957777C>T	uc004cjx.1	-	c.196G>A	c.(196-198)GCC>ACC	p.A66T	FBXW5_uc010nbx.1_5'Flank|FBXW5_uc004cjy.1_5'UTR|FBXW5_uc004cjz.1_5'UTR|C8G_uc004cka.2_5'Flank	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	66							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)												0.320755	44.065281	45.57331	17	36	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	Missense_Mutation	SNP	138957777	138957777	6005	9	C	T	T	26	26	FBXW5	T	2	2
C8G	733	broad.mit.edu	36	9	138960955	138960955	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138960955C>T	uc004cka.2	+	c.588C>T	c.(586-588)GTC>GTT	p.V196V	FBXW5_uc004cjx.1_5'Flank|FBXW5_uc004cjy.1_5'Flank|FBXW5_uc004cjz.1_5'Flank	NM_000606	NP_000597	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	196					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)												0.228571	36.862739	41.594189	16	54	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)	Silent	SNP	138960955	138960955	2527	9	C	T	T	30	30	C8G	T	2	2
ABCA2	20	broad.mit.edu	36	9	139026820	139026820	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139026820C>A	uc004ckm.1	-	c.5215G>T	c.(5215-5217)GCC>TCC	p.A1739S	ABCA2_uc010nby.1_Missense_Mutation_p.A1639S|ABCA2_uc010nbz.1_Missense_Mutation_p.A1709S|ABCA2_uc004ckl.1_Missense_Mutation_p.A1639S|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1708					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|lysosomal 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)												0.220339	53.780138	62.284938	26	92	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	Missense_Mutation	SNP	139026820	139026820	33	9	C	A	A	28	28	ABCA2	A	3	3
ABCA2	20	broad.mit.edu	36	9	139030656	139030656	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139030656C>A	uc004ckm.1	-	c.3102G>T	c.(3100-3102)AAG>AAT	p.K1034N	ABCA2_uc010nby.1_Missense_Mutation_p.K934N|ABCA2_uc010nbz.1_Missense_Mutation_p.K1004N|ABCA2_uc004ckl.1_Missense_Mutation_p.K934N|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1003	ABC transporter 1.				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|lysosomal 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)												0.225806	104.912694	122.103346	56	192	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	Missense_Mutation	SNP	139030656	139030656	33	9	C	A	A	32	32	ABCA2	A	3	3
C9orf139	401563	broad.mit.edu	36	9	139049059	139049059	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139049059G>A	uc004ckp.1	+	c.305G>A	c.(304-306)CGC>CAC	p.R102H	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	hypothetical protein LOC401563	102											0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)												0.257485	84.422506	93.285078	43	124	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	Missense_Mutation	SNP	139049059	139049059	2572	9	G	A	A	38	38	C9orf139	A	1	1
NPDC1	56654	broad.mit.edu	36	9	139054307	139054307	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139054307G>A	uc004cks.1	-	c.1056C>T	c.(1054-1056)GCC>GCT	p.A352A	NPDC1_uc004ckr.1_Silent_p.A274A|NPDC1_uc004ckt.1_Silent_p.A274A|NPDC1_uc004cku.1_Silent_p.A274A	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and	274						integral to membrane					0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)												0.186275	42.364887	51.771211	19	83	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	Silent	SNP	139054307	139054307	10977	9	G	A	A	35	35	NPDC1	A	2	2
NPDC1	56654	broad.mit.edu	36	9	139057211	139057211	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139057211C>T	uc004cks.1	-	c.482G>A	c.(481-483)CGC>CAC	p.R161H	NPDC1_uc004ckr.1_Missense_Mutation_p.R83H|NPDC1_uc004ckt.1_Missense_Mutation_p.R83H|NPDC1_uc004cku.1_Missense_Mutation_p.R83H	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and	83						integral to membrane					0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)												0.614458	148.531522	149.482963	51	32	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	Missense_Mutation	SNP	139057211	139057211	10977	9	C	T	T	27	27	NPDC1	T	1	1
MAN1B1	11253	broad.mit.edu	36	9	139115357	139115357	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139115357G>A	uc004cld.1	+	c.996G>A	c.(994-996)ACG>ACA	p.T332T	MAN1B1_uc004clc.1_Silent_p.T233T|MAN1B1_uc010ncc.1_Non-coding_Transcript|MAN1B1_uc004cle.1_5'Flank|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	332	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)												0.676471	347.464512	352.162075	115	55	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	Silent	SNP	139115357	139115357	9595	9	G	A	A	37	37	MAN1B1	A	1	1
GRIN1	2902	broad.mit.edu	36	9	139170956	139170956	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139170956C>T	uc004cln.1	+	c.740C>T	c.(739-741)GCC>GTC	p.A247V	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.A226V|GRIN1_uc004clk.1_Missense_Mutation_p.A229V|GRIN1_uc004cll.1_Missense_Mutation_p.A229V|GRIN1_uc004clm.1_Missense_Mutation_p.A229V|GRIN1_uc004clo.1_Missense_Mutation_p.A247V	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	229	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding				0	all_cancers(76;0.0926)				L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	NSCLC(113;717 1653 2089 20474 37618)								0.529412	25.172626	25.185218	9	8	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Missense_Mutation	SNP	139170956	139170956	7057	9	C	T	T	26	26	GRIN1	T	2	2
ANAPC2	29882	broad.mit.edu	36	9	139194526	139194526	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139194526G>A	uc004clr.1	-	c.1818C>T	c.(1816-1818)GAC>GAT	p.D606D	ANAPC2_uc004clq.1_Silent_p.D462D	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	606					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)													0.208333	68.244601	81.475727	35	133	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	Silent	SNP	139194526	139194526	606	9	G	A	A	40	40	ANAPC2	A	1	1
TPRN	286262	broad.mit.edu	36	9	139213597	139213597	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139213597G>A	uc004clu.2	-	c.1205C>T	c.(1204-1206)TCG>TTG	p.S402L	TPRN_uc004clt.2_Missense_Mutation_p.S157L	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 1	463					sensory perception of sound	stereocilium					0														0.272727	56.262484	60.359622	24	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139213597	139213597	16965	9	G	A	A	37	37	TPRN	A	1	1
NDOR1	27158	broad.mit.edu	36	9	139228582	139228582	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139228582G>A	uc004clx.1	+	c.618G>A	c.(616-618)TCG>TCA	p.S206S	NDOR1_uc004clw.1_Silent_p.S206S|NDOR1_uc004cly.1_Silent_p.S172S	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	206	FAD-binding FR-type.				cell death|oxidation-reduction process	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)													0.234043	92.549378	104.692041	44	144	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	Silent	SNP	139228582	139228582	10648	9	G	A	A	37	37	NDOR1	A	1	1
SLC34A3	142680	broad.mit.edu	36	9	139247299	139247299	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139247299G>A	uc004cme.1	+	c.471G>A	c.(469-471)GTG>GTA	p.V157V	SLC34A3_uc004cmc.1_Silent_p.V14V|SLC34A3_uc004cmd.1_Silent_p.V157V|SLC34A3_uc004cmf.1_Silent_p.V157V	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	157	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)													0.327869	47.973213	49.579051	20	41	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	Silent	SNP	139247299	139247299	15066	9	G	A	A	46	46	SLC34A3	A	2	2
EXD3	54932	broad.mit.edu	36	9	139321311	139321311	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139321311A>G	uc004cmp.2	-	c.2543T>C	c.(2542-2544)GTT>GCT	p.V848A	EXD3_uc010ncf.1_Missense_Mutation_p.V486A	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	hypothetical protein LOC54932	848					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0														0.787879	85.6588	88.186633	26	7	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139321311	139321311	5492	9	A	G	G	2	2	EXD3	G	4	4
EXD3	54932	broad.mit.edu	36	9	139409588	139409588	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139409588G>A	uc004cmp.2	-	c.43C>T	c.(43-45)CGC>TGC	p.R15C	EXD3_uc010ncg.1_5'UTR|EXD3_uc004cmr.2_5'UTR|EXD3_uc004cms.2_Missense_Mutation_p.R15C|EXD3_uc004cmt.2_Non-coding_Transcript	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	hypothetical protein LOC54932	15					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0														0.210526	43.607808	52.403776	24	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139409588	139409588	5492	9	G	A	A	38	38	EXD3	A	1	1
PNPLA7	375775	broad.mit.edu	36	9	139475881	139475881	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139475881G>A	uc010ncj.1	-	c.3769C>T	c.(3769-3771)CCC>TCC	p.P1257S	NELF_uc004cmz.1_5'Flank|NELF_uc004cna.1_5'Flank|NELF_uc004cnb.1_5'Flank|NELF_uc004cnc.1_5'Flank|PNPLA7_uc004cnd.1_Missense_Mutation_p.P479S|PNPLA7_uc004cne.1_Missense_Mutation_p.P498S|PNPLA7_uc004cnf.2_Missense_Mutation_p.P1232S	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1232					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity				0	all_cancers(76;0.126)													0.608696	83.605683	84.082901	28	18	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	Missense_Mutation	SNP	139475881	139475881	12597	9	G	A	A	41	41	PNPLA7	A	2	2
PNPLA7	375775	broad.mit.edu	36	9	139507317	139507317	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139507317G>T	uc010ncj.1	-	c.2166C>A	c.(2164-2166)ATC>ATA	p.I722I	PNPLA7_uc004cnf.2_Silent_p.I697I	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	697					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity				0	all_cancers(76;0.126)													0.724409	252.000621	257.75153	92	35	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	Silent	SNP	139507317	139507317	12597	9	G	T	T	41	41	PNPLA7	T	3	3
PNPLA7	375775	broad.mit.edu	36	9	139557838	139557838	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139557838G>A	uc010ncj.1	-	c.373C>T	c.(373-375)CGT>TGT	p.R125C	PNPLA7_uc004cnf.2_Missense_Mutation_p.R100C	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	100					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity				0	all_cancers(76;0.126)													0.19403	22.936964	28.79192	13	54	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	Missense_Mutation	SNP	139557838	139557838	12597	9	G	A	A	38	38	PNPLA7	A	1	1
WDR85	92715	broad.mit.edu	36	9	139578729	139578729	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139578729G>A	uc004cnk.1	-	c.927C>T	c.(925-927)ATC>ATT	p.I309I	WDR85_uc004cnl.1_Silent_p.I133I|WDR85_uc004cnm.1_Silent_p.I70I|WDR85_uc004cnn.1_Silent_p.I38I|WDR85_uc004cnj.1_Silent_p.I38I|WDR85_uc010ncl.1_Silent_p.I70I	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	WD repeat domain 85	309					peptidyl-diphthamide biosynthetic process from peptidyl-histidine						0	all_cancers(76;0.106)													0.466667	122.94356	123.030282	42	48	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)	Silent	SNP	139578729	139578729	17906	9	G	A	A	41	41	WDR85	A	2	2
WDR85	92715	broad.mit.edu	36	9	139579410	139579410	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139579410G>A	uc004cnk.1	-	c.658C>T	c.(658-660)CTG>TTG	p.L220L	WDR85_uc004cnl.1_Silent_p.L44L|WDR85_uc004cnm.1_5'UTR|WDR85_uc004cnn.1_5'UTR|WDR85_uc004cnj.1_5'Flank|WDR85_uc010ncl.1_5'UTR	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	WD repeat domain 85	220	WD 1.				peptidyl-diphthamide biosynthetic process from peptidyl-histidine						0	all_cancers(76;0.106)													0.21519	37.734236	43.648544	17	62	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)	Silent	SNP	139579410	139579410	17906	9	G	A	A	33	33	WDR85	A	2	2
WDR85	92715	broad.mit.edu	36	9	139590383	139590383	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139590383G>T	uc004cnk.1	-	c.345C>A	c.(343-345)TCC>TCA	p.S115S	WDR85_uc004cnl.1_5'UTR|WDR85_uc004cnm.1_5'UTR|WDR85_uc004cnn.1_5'UTR	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	WD repeat domain 85	115					peptidyl-diphthamide biosynthetic process from peptidyl-histidine						0	all_cancers(76;0.106)													0.232704	76.779669	87.198039	37	122	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)	Silent	SNP	139590383	139590383	17906	9	G	T	T	47	47	WDR85	T	3	3
ZMYND19	116225	broad.mit.edu	36	9	139602989	139602989	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139602989G>T	uc004cno.1	-	c.54C>A	c.(52-54)ACC>ACA	p.T18T		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	18						Golgi apparatus|plasma membrane	zinc ion binding				0	all_cancers(76;0.106)													0.235897	102.000821	114.406214	46	149	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	Silent	SNP	139602989	139602989	18301	9	G	T	T	47	47	ZMYND19	T	3	3
ARRDC1	92714	broad.mit.edu	36	9	139628613	139628613	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139628613G>A	uc004cns.1	+	c.660G>A	c.(658-660)CGG>CGA	p.R220R	ARRDC1_uc004cnp.1_Silent_p.R220R|ARRDC1_uc004cnq.1_Silent_p.R202R|ARRDC1_uc004cnt.1_Silent_p.R95R|ARRDC1_uc004cnu.1_Non-coding_Transcript|ARRDC1_uc004cnv.1_Silent_p.R200R|ARRDC1_uc004cnw.1_Silent_p.R95R|ARRDC1_uc004cnx.1_Silent_p.R95R|ARRDC1_uc004cny.1_Non-coding_Transcript	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	220											0	all_cancers(76;0.106)													0.226496	115.204246	131.24372	53	181	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	Silent	SNP	139628613	139628613	1000	9	G	A	A	41	41	ARRDC1	A	2	2
EHMT1	79813	broad.mit.edu	36	9	139766665	139766665	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139766665G>A	uc004coc.1	+	c.1139G>A	c.(1138-1140)GGT>GAT	p.G380D	EHMT1_uc004coa.1_Missense_Mutation_p.G411D|EHMT1_uc004cob.1_Missense_Mutation_p.G380D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase	411					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)													0.654545	103.190383	104.344828	36	19	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	Missense_Mutation	SNP	139766665	139766665	5172	9	G	A	A	44	44	EHMT1	A	2	2
CACNA1B	774	broad.mit.edu	36	9	140039381	140039381	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:140039381G>A	uc004cog.1	+	c.3222G>A	c.(3220-3222)CCG>CCA	p.P1074P	CACNA1B_uc004coh.1_Silent_p.P675P|CACNA1B_uc004coi.1_Silent_p.P284P	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1074	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)				Amlodipine(DB00381)|Gabapentin(DB00996)									0.140351	11.362154	18.480434	8	49	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Silent	SNP	140039381	140039381	2655	9	G	A	A	37	37	CACNA1B	A	1	1
CACNA1B	774	broad.mit.edu	36	9	140072869	140072869	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:140072869G>A	uc004cog.1	+	c.4336G>A	c.(4336-4338)GCC>ACC	p.A1446T	CACNA1B_uc004coh.1_Missense_Mutation_p.A1047T|CACNA1B_uc004coi.1_Missense_Mutation_p.A660T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1446	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)				Amlodipine(DB00381)|Gabapentin(DB00996)									0.1875	22.861152	28.715604	12	52	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Missense_Mutation	SNP	140072869	140072869	2655	9	G	A	A	38	38	CACNA1B	A	1	1
CACNA1B	774	broad.mit.edu	36	9	140073390	140073390	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:140073390A>T	uc004cog.1	+	c.4512A>T	c.(4510-4512)AAA>AAT	p.K1504N	CACNA1B_uc004coh.1_Missense_Mutation_p.K1105N|CACNA1B_uc004coi.1_Missense_Mutation_p.K718N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1504	IV.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)				Amlodipine(DB00381)|Gabapentin(DB00996)									0.277778	48.777045	51.971745	20	52	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Missense_Mutation	SNP	140073390	140073390	2655	9	A	T	T	4	4	CACNA1B	T	4	4
CACNA1B	774	broad.mit.edu	36	9	140073964	140073964	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:140073964T>C	uc004cog.1	+	c.4622T>C	c.(4621-4623)GTC>GCC	p.V1541A	CACNA1B_uc004coh.1_Missense_Mutation_p.V1142A|CACNA1B_uc004coi.1_Missense_Mutation_p.V755A	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1541	Helical; Name=S3 of repeat IV; (Potential).|IV.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)				Amlodipine(DB00381)|Gabapentin(DB00996)									0.205036	134.730312	157.29638	57	221	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Missense_Mutation	SNP	140073964	140073964	2655	9	T	C	C	58	58	CACNA1B	C	4	4
CACNA1B	774	broad.mit.edu	36	9	140133033	140133033	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:140133033G>A	uc004cog.1	+	c.6022G>A	c.(6022-6024)GAG>AAG	p.E2008K	CACNA1B_uc004coi.1_Missense_Mutation_p.E1220K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2008	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)				Amlodipine(DB00381)|Gabapentin(DB00996)									0.416667	13.47177	13.544764	5	7	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Missense_Mutation	SNP	140133033	140133033	2655	9	G	A	A	37	37	CACNA1B	A	1	1
NFIB	4781	broad.mit.edu	36	9	14136738	14136738	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:14136738G>T	uc003zlf.1	-	c.875C>A	c.(874-876)TCT>TAT	p.S292Y	NFIB_uc003zld.1_Missense_Mutation_p.S40Y|NFIB_uc003zle.1_Missense_Mutation_p.S292Y	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	292					DNA replication	nucleolus	sequence-specific DNA binding transcription factor activity				0						Esophageal Squamous(132;921 1730 14828 40753 46471)								0.147929	66.606965	106.866149	50	288	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	Missense_Mutation	SNP	14136738	14136738	10771	9	G	T	T	33	33	NFIB	T	3	3
CBWD1	55871	broad.mit.edu	36	9	144743	144743	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:144743C>A	uc003zga.2	-	c.628G>T	c.(628-630)GAA>TAA	p.E210*	CBWD1_uc010mgr.1_Nonsense_Mutation_p.E42*|CBWD1_uc010mgs.1_Non-coding_Transcript|CBWD1_uc003zgb.2_Nonsense_Mutation_p.E174*|CBWD1_uc003zgc.2_Nonsense_Mutation_p.E210*	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1 isoform 1	210							ATP binding|protein binding			ovary(1)	1	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)												0.284091	175.991259	187.057781	75	189	CC		KEEP	---	---	---	---	capture	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	Nonsense_Mutation	SNP	144743	144743	2831	9	C	A	A	32	32	CBWD1	A	5	3
FREM1	158326	broad.mit.edu	36	9	14779036	14779036	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:14779036T>C	uc003zlm.1	-	c.4058A>G	c.(4057-4059)TAC>TGC	p.Y1353C	FREM1_uc010mic.1_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1353	CSPG 9.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5														0.46	77.525664	77.594596	23	27	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;3.53e-06)	Missense_Mutation	SNP	14779036	14779036	6291	9	T	C	C	57	57	FREM1	C	4	4
FREM1	158326	broad.mit.edu	36	9	14832378	14832378	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:14832378G>T	uc003zlm.1	-	c.1674C>A	c.(1672-1674)TTC>TTA	p.F558L	FREM1_uc010mic.1_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	558	CSPG 3.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5														0.543478	545.234375	545.824515	200	168	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;3.53e-06)	Missense_Mutation	SNP	14832378	14832378	6291	9	G	T	T	33	33	FREM1	T	3	3
FREM1	158326	broad.mit.edu	36	9	14849182	14849182	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:14849182G>A	uc003zlm.1	-	c.630C>T	c.(628-630)TCC>TCT	p.S210S	FREM1_uc010mic.1_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	210					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5														0.446429	148.933039	149.21351	50	62	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;3.53e-06)	Silent	SNP	14849182	14849182	6291	9	G	A	A	43	43	FREM1	A	2	2
FREM1	158326	broad.mit.edu	36	9	14849255	14849255	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:14849255C>T	uc003zlm.1	-	c.557G>A	c.(556-558)GGC>GAC	p.G186D	FREM1_uc010mic.1_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	186					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5														0.218274	82.121727	96.539337	43	154	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;3.53e-06)	Missense_Mutation	SNP	14849255	14849255	6291	9	C	T	T	26	26	FREM1	T	2	2
TTC39B	158219	broad.mit.edu	36	9	15215947	15215947	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:15215947C>T	uc003zlr.1	-	c.141G>A	c.(139-141)GCG>GCA	p.A47A	TTC39B_uc003zlq.1_Silent_p.A16A|TTC39B_uc010mie.1_Silent_p.A47A|TTC39B_uc010mif.1_Silent_p.A47A|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Silent_p.A16A	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	47							binding			ovary(1)	1														0.357414	238.517895	243.208251	94	169	CC		KEEP	---	---	---	---	capture			Silent	SNP	15215947	15215947	17263	9	C	T	T	27	27	TTC39B	T	1	1
C9orf93	203238	broad.mit.edu	36	9	15767815	15767815	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:15767815G>A	uc003zmd.1	+	c.2889G>A	c.(2887-2889)GTG>GTA	p.V963V	C9orf93_uc003zme.1_Silent_p.V878V|C9orf93_uc003zmf.1_Silent_p.V271V	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	963											0														0.181818	39.433094	51.986762	24	108	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;4.84e-07)	Silent	SNP	15767815	15767815	2622	9	G	A	A	46	46	C9orf93	A	2	2
SH3GL2	6456	broad.mit.edu	36	9	17783415	17783415	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:17783415G>A	uc003zna.1	+	c.779G>A	c.(778-780)CGA>CAA	p.R260Q		NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	260					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding				0														0.535354	310.143724	310.357913	106	92	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	Missense_Mutation	SNP	17783415	17783415	14743	9	G	A	A	37	37	SH3GL2	A	1	1
ADAMTSL1	92949	broad.mit.edu	36	9	18670340	18670340	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:18670340C>A	uc003zne.2	+	c.1167C>A	c.(1165-1167)TCC>TCA	p.S389S	ADAMTSL1_uc003znb.2_Silent_p.S372S|ADAMTSL1_uc003znc.2_Silent_p.S389S	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	389	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4														0.261261	64.979301	70.672343	29	82	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;1.29e-17)	Silent	SNP	18670340	18670340	275	9	C	A	A	24	24	ADAMTSL1	A	3	3
ADAMTSL1	92949	broad.mit.edu	36	9	18767504	18767504	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:18767504C>T	uc003zne.2	+	c.3277C>T	c.(3277-3279)CGC>TGC	p.R1093C		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1093						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4														0.304348	16.413004	17.200769	7	16	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;1.29e-17)	Missense_Mutation	SNP	18767504	18767504	275	9	C	T	T	27	27	ADAMTSL1	T	1	1
ADAMTSL1	92949	broad.mit.edu	36	9	18767595	18767595	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:18767595C>T	uc003zne.2	+	c.3368C>T	c.(3367-3369)TCG>TTG	p.S1123L		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1123						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4														0.145455	11.365392	18.015058	8	47	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;1.29e-17)	Missense_Mutation	SNP	18767595	18767595	275	9	C	T	T	31	31	ADAMTSL1	T	1	1
HAUS6	54801	broad.mit.edu	36	9	19048172	19048172	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:19048172C>A	uc003znk.1	-	c.2593G>T	c.(2593-2595)GAA>TAA	p.E865*	HAUS6_uc003znl.1_Nonsense_Mutation_p.E729*	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	family with sequence similarity 29, member A	865					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2														0.353333	400.143435	408.698696	159	291	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19048172	19048172	7252	9	C	A	A	32	32	HAUS6	A	5	3
HAUS6	54801	broad.mit.edu	36	9	19092539	19092539	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:19092539C>T	uc003znk.1	-	c.111G>A	c.(109-111)TCG>TCA	p.S37S		NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	family with sequence similarity 29, member A	37					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2														0.192771	58.137044	72.747155	32	134	CC		KEEP	---	---	---	---	capture			Silent	SNP	19092539	19092539	7252	9	C	T	T	27	27	HAUS6	T	1	1
PLIN2	123	broad.mit.edu	36	9	19106467	19106467	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:19106467C>A	uc003zno.1	-	c.1093G>T	c.(1093-1095)GAA>TAA	p.E365*		NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	365					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(1)	1														0.179894	56.528018	74.758426	34	155	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19106467	19106467	12516	9	C	A	A	32	32	PLIN2	A	5	3
DENND4C	55667	broad.mit.edu	36	9	19290246	19290246	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:19290246C>T	uc003znq.1	+	c.520C>T	c.(520-522)CTC>TTC	p.L174F		NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	174	DENN.|Helical; (Potential).					integral to membrane				ovary(1)	1														0.322188	284.425133	293.667402	106	223	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19290246	19290246	4614	9	C	T	T	28	28	DENND4C	T	2	2
DENND4C	55667	broad.mit.edu	36	9	19336106	19336106	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:19336106G>A	uc003znq.1	+	c.2484G>A	c.(2482-2484)TCG>TCA	p.S828S	DENND4C_uc003znr.1_Silent_p.S116S|DENND4C_uc003zns.1_Silent_p.S10S|DENND4C_uc003znt.2_Silent_p.S10S	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	828						integral to membrane				ovary(1)	1														0.592593	674.238825	677.067216	224	154	GG		KEEP	---	---	---	---	capture			Silent	SNP	19336106	19336106	4614	9	G	A	A	37	37	DENND4C	A	1	1
SLC24A2	25769	broad.mit.edu	36	9	19506164	19506164	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:19506164G>A	uc003zoa.1	-	c.1973C>T	c.(1972-1974)CCC>CTC	p.P658L	SLC24A2_uc003zob.1_Missense_Mutation_p.P641L	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	658	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3														0.314607	548.260766	567.320504	196	427	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	Missense_Mutation	SNP	19506164	19506164	14963	9	G	A	A	43	43	SLC24A2	A	2	2
SMARCA2	6595	broad.mit.edu	36	9	2071995	2071995	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:2071995C>T	uc003zhc.1	+	c.2348C>T	c.(2347-2349)TCG>TTG	p.S783L	SMARCA2_uc003zhd.1_Missense_Mutation_p.S783L|SMARCA2_uc010mha.1_Missense_Mutation_p.S774L	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	783	Helicase ATP-binding.				chromatin remodeling|negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein binding|transcription activator activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)												0.151724	101.364896	151.900989	66	369	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0475)	Missense_Mutation	SNP	2071995	2071995	15267	9	C	T	T	31	31	SMARCA2	T	1	1
KIAA1797	54914	broad.mit.edu	36	9	20730294	20730294	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:20730294A>G	uc003zog.1	+	c.347A>G	c.(346-348)GAA>GGA	p.E116G		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	116						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10														0.160448	99.263761	128.664532	43	225	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	Missense_Mutation	SNP	20730294	20730294	8569	9	A	G	G	9	9	KIAA1797	G	4	4
SMARCA2	6595	broad.mit.edu	36	9	2076866	2076866	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:2076866G>A	uc003zhc.1	+	c.2564G>A	c.(2563-2565)CGA>CAA	p.R855Q	SMARCA2_uc003zhd.1_Missense_Mutation_p.R855Q|SMARCA2_uc010mha.1_Missense_Mutation_p.R846Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	855	Helicase ATP-binding.				chromatin remodeling|negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein binding|transcription activator activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)												0.601266	563.1055	565.95161	190	126	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0475)	Missense_Mutation	SNP	2076866	2076866	15267	9	G	A	A	37	37	SMARCA2	A	1	1
KIAA1797	54914	broad.mit.edu	36	9	20875192	20875192	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:20875192G>A	uc003zog.1	+	c.2588G>A	c.(2587-2589)CGA>CAA	p.R863Q	KIAA1797_uc003zoh.1_Missense_Mutation_p.R299Q	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	863						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10														0.129032	33.15322	62.237241	28	189	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	Missense_Mutation	SNP	20875192	20875192	8569	9	G	A	A	37	37	KIAA1797	A	1	1
PTPLAD2	401494	broad.mit.edu	36	9	21005981	21005981	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21005981A>G	uc010miq.1	-	c.299T>C	c.(298-300)GTG>GCG	p.V100A	PTPLAD2_uc003zoj.1_Missense_Mutation_p.V63A|PTPLAD2_uc010mir.1_Missense_Mutation_p.V100A	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain	100	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity				0														0.18107	92.665661	115.895723	44	199	AA		KEEP	---	---	---	---	capture		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	Missense_Mutation	SNP	21005981	21005981	13231	9	A	G	G	6	6	PTPLAD2	G	4	4
IFNW1	3467	broad.mit.edu	36	9	21131288	21131288	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21131288C>T	uc003zol.1	-	c.282G>A	c.(280-282)GAG>GAA	p.E94E		NM_002177	NP_002168	P05000	IFNW1_HUMAN	interferon, omega 1	94					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0														0.352941	283.894065	289.735495	108	198	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	Silent	SNP	21131288	21131288	7853	9	C	T	T	28	28	IFNW1	T	2	2
IFNW1	3467	broad.mit.edu	36	9	21131378	21131378	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21131378C>T	uc003zol.1	-	c.192G>A	c.(190-192)GAG>GAA	p.E64E		NM_002177	NP_002168	P05000	IFNW1_HUMAN	interferon, omega 1	64					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0														0.182232	154.102631	195.787761	80	359	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	Silent	SNP	21131378	21131378	7853	9	C	T	T	32	32	IFNW1	T	2	2
IFNA7	3444	broad.mit.edu	36	9	21191846	21191846	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21191846T>G	uc003zop.1	-	c.319A>C	c.(319-321)AAA>CAA	p.K107Q	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7	107					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0														0.16792	146.203932	187.861256	67	332	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	Missense_Mutation	SNP	21191846	21191846	7843	9	T	G	G	64	64	IFNA7	G	4	4
IFNA14	3448	broad.mit.edu	36	9	21229826	21229826	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21229826T>C	uc010mis.1	-	c.109A>G	c.(109-111)ACT>GCT	p.T37A	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	interferon, alpha 14	37					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0														0.361963	370.972214	376.433116	118	208	TT		KEEP	---	---	---	---	capture		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	Missense_Mutation	SNP	21229826	21229826	7835	9	T	C	C	58	58	IFNA14	C	4	4
IFNA5	3442	broad.mit.edu	36	9	21294903	21294903	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21294903T>C	uc003zov.1	-	c.353A>G	c.(352-354)GAC>GGC	p.D118G		NM_002169	NP_002160	P01569	IFNA5_HUMAN	interferon, alpha 5	118					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			ovary(1)	1														0.17381	158.433547	200.618374	73	347	TT		KEEP	---	---	---	---	capture		Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	Missense_Mutation	SNP	21294903	21294903	7841	9	T	C	C	58	58	IFNA5	C	4	4
MTAP	4507	broad.mit.edu	36	9	21844825	21844825	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21844825G>A	uc003zph.1	+	c.646G>A	c.(646-648)GCC>ACC	p.A216T	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.1_Non-coding_Transcript	NM_002451	NP_002442	Q13126	MTAP_HUMAN	5'-methylthioadenosine phosphorylase	216					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity			central_nervous_system(1)	1		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)			Adenine(DB00173)					18				0.102564	6.462076	30.962327	16	140	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Missense_Mutation	SNP	21844825	21844825	10304	9	G	A	A	38	38	MTAP	A	1	1
CDKN2A	1029	broad.mit.edu	36	9	21961026	21961026	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21961026C>T	uc003zpl.1	-	c.498G>A	c.(496-498)GGG>GGA	p.G166G	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.G111D|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	Error:Variant_position_missing_in_P42771_after_alignment					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?(425)|p.H83fs*2(2)|p.G111D(1)|p.A68fs*3(1)|p.D105fs*8(1)		haematopoietic_and_lymphoid_tissue(647)|skin(417)|upper_aerodigestive_tract(405)|central_nervous_system(380)|lung(319)|pancreas(237)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|ovary(76)|soft_tissue(73)|biliary_tract(71)|bone(70)|breast(46)|stomach(44)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|large_intestine(9)|salivary_gland(8)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3636		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)						17		76	TSP Lung(5;3.83e-07)			0.168831	20.624646	28.626876	13	64	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	21961026	21961026	3290	9	C	T	T	26	26	CDKN2A	T	2	2
CDKN2B	1030	broad.mit.edu	36	9	21998901	21998901	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21998901G>T	uc003zpo.1	-	c.52C>A	c.(52-54)CTG>ATG	p.L18M	CDKN2B-AS_uc010miw.1_Intron|CDKN2B-AS_uc010mix.1_Intron|CDKN2B-AS_uc003zpm.1_Intron|MTAP_uc003zpi.1_Intron|CDKN2B_uc003zpn.1_Missense_Mutation_p.L18M|CDKN2B_uc010miy.1_Missense_Mutation_p.L18M	NM_004936	NP_004927	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B isoform 1	18	ANK 1; truncated.				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)								1		OREG0019127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.1375	13.16938	23.345625	11	69	GG		KEEP	---	---	---	---	capture		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	Missense_Mutation	SNP	21998901	21998901	3293	9	G	T	T	33	33	CDKN2B	T	3	3
DMRTA1	63951	broad.mit.edu	36	9	22441455	22441455	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:22441455G>T	uc003zpp.1	+	c.1060G>T	c.(1060-1062)GGG>TGG	p.G354W		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	354					cell differentiation|regulation of transcription, DNA-dependent|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)												0.109677	8.691726	32.06414	17	138	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	Missense_Mutation	SNP	22441455	22441455	4768	9	G	T	T	35	35	DMRTA1	T	3	3
ELAVL2	1993	broad.mit.edu	36	9	23752065	23752065	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:23752065C>A	uc003zpu.1	-	c.168G>T	c.(166-168)AAG>AAT	p.K56N	ELAVL2_uc003zps.1_Missense_Mutation_p.K56N|ELAVL2_uc003zpt.1_Missense_Mutation_p.K56N|ELAVL2_uc003zpv.1_Missense_Mutation_p.K56N|ELAVL2_uc003zpw.1_Missense_Mutation_p.K56N	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	56	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.200549	130.844758	161.227729	73	291	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	Missense_Mutation	SNP	23752065	23752065	5241	9	C	A	A	32	32	ELAVL2	A	3	3
VLDLR	7436	broad.mit.edu	36	9	2634742	2634742	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:2634742G>A	uc003zhk.1	+	c.1075G>A	c.(1075-1077)GAA>AAA	p.E359K	VLDLR_uc003zhl.1_Missense_Mutation_p.E359K|VLDLR_uc003zhm.1_Non-coding_Transcript|VLDLR_uc003zhn.1_Missense_Mutation_p.E318K	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	359	Extracellular (Potential).|EGF-like 1.				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														0.121951	25.42546	54.134393	25	180	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	Missense_Mutation	SNP	2634742	2634742	17741	9	G	A	A	37	37	VLDLR	A	1	1
VLDLR	7436	broad.mit.edu	36	9	2635015	2635015	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:2635015C>T	uc003zhk.1	+	c.1245C>T	c.(1243-1245)GGC>GGT	p.G415G	VLDLR_uc003zhl.1_Silent_p.G415G|VLDLR_uc003zhm.1_Non-coding_Transcript|VLDLR_uc003zhn.1_Silent_p.G374G	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	415	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				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														0.17226	125.889181	171.28077	77	370	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	Silent	SNP	2635015	2635015	17741	9	C	T	T	27	27	VLDLR	T	1	1
VLDLR	7436	broad.mit.edu	36	9	2636444	2636444	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:2636444C>T	uc003zhk.1	+	c.1595C>T	c.(1594-1596)GCG>GTG	p.A532V	VLDLR_uc003zhl.1_Missense_Mutation_p.A532V|VLDLR_uc003zhm.1_Non-coding_Transcript|VLDLR_uc003zhn.1_Missense_Mutation_p.A491V	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	532	LDL-receptor class B 3.|Extracellular (Potential).				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														0.350365	249.120207	254.531058	96	178	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	Missense_Mutation	SNP	2636444	2636444	17741	9	C	T	T	27	27	VLDLR	T	1	1
PLAA	9373	broad.mit.edu	36	9	26910316	26910316	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:26910316A>G	uc003zqd.1	-	c.1106T>C	c.(1105-1107)GTT>GCT	p.V369A	PLAA_uc003zqe.1_Missense_Mutation_p.V369A	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	369	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)				Melanoma(175;2670 2735 14091 35526)								0.117871	43.650234	81.383019	31	232	AA		KEEP	---	---	---	---	capture		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	Missense_Mutation	SNP	26910316	26910316	12437	9	A	G	G	2	2	PLAA	G	4	4
PLAA	9373	broad.mit.edu	36	9	26915939	26915939	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:26915939C>A	uc003zqd.1	-	c.753G>T	c.(751-753)GAG>GAT	p.E251D	PLAA_uc003zqe.1_Missense_Mutation_p.E251D	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	251	WD 6.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)				Melanoma(175;2670 2735 14091 35526)								0.144444	36.117483	58.036154	26	154	CC		KEEP	---	---	---	---	capture		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	Missense_Mutation	SNP	26915939	26915939	12437	9	C	A	A	24	24	PLAA	A	3	3
LRRC19	64922	broad.mit.edu	36	9	26987787	26987787	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:26987787C>A	uc003zqh.1	-	c.534G>T	c.(532-534)TGG>TGT	p.W178C	IFT74_uc010mja.1_Intron|IFT74_uc010mjb.1_Intron|IFT74_uc003zqf.2_Intron|IFT74_uc003zqg.2_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	178	Extracellular (Potential).|LRRCT.					integral to membrane					0		all_neural(11;1.81e-09)												0.377193	220.290151	223.308255	86	142	CC		KEEP	---	---	---	---	capture		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	Missense_Mutation	SNP	26987787	26987787	9349	9	C	A	A	30	30	LRRC19	A	3	3
KCNV2	169522	broad.mit.edu	36	9	2709019	2709019	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:2709019C>T	uc003zho.1	+	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	427	Helical; Name=Segment S5; (Potential).				response to stimulus|visual perception	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1														0.190722	68.556344	85.911055	37	157	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0257)	Missense_Mutation	SNP	2709019	2709019	8400	9	C	T	T	27	27	KCNV2	T	1	1
TEK	7010	broad.mit.edu	36	9	27099613	27099613	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:27099613C>A	uc003zqi.2	+	c.25C>A	c.(25-27)CTC>ATC	p.L9I	TEK_uc010mjc.1_Missense_Mutation_p.L9I	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	9					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)								493				0.154762	95.272256	143.149339	65	355	CC		KEEP	---	---	---	---	capture		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Missense_Mutation	SNP	27099613	27099613	16278	9	C	A	A	32	32	TEK	A	3	3
C9orf11	54586	broad.mit.edu	36	9	27274734	27274734	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:27274734G>A	uc003zql.1	-	c.872C>T	c.(871-873)TCG>TTG	p.S291L	NCRNA00032_uc010mjd.1_5'Flank	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Acr formation associated factor	291	Cytoplasmic (Potential).					acrosomal membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2														0.319444	176.295863	182.554899	69	147	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)	Missense_Mutation	SNP	27274734	27274734	2561	9	G	A	A	37	37	C9orf11	A	1	1
MOBKL2B	79817	broad.mit.edu	36	9	27349143	27349143	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:27349143G>A	uc003zqn.1	-	c.510C>T	c.(508-510)TTC>TTT	p.F170F		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	MOB1, Mps One Binder kinase activator-like 2B	170							metal ion binding|protein binding			ovary(1)|pleura(1)	2		all_neural(11;9.12e-11)												0.365297	636.201429	646.693799	240	417	GG		KEEP	---	---	---	---	capture		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)	Silent	SNP	27349143	27349143	10076	9	G	A	A	37	37	MOBKL2B	A	1	1
LINGO2	158038	broad.mit.edu	36	9	27939182	27939182	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:27939182G>A	uc003zqu.1	-	c.1488C>T	c.(1486-1488)GCC>GCT	p.A496A	LINGO2_uc010mjf.1_Silent_p.A496A|LINGO2_uc003zqv.1_Silent_p.A496A|LINGO2_uc010mjg.1_Silent_p.A496A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	496	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	Melanoma(11;0.242)	all_neural(11;2.78e-09)												0.365079	279.237948	283.27051	92	160	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	Silent	SNP	27939182	27939182	9142	9	G	A	A	35	35	LINGO2	A	2	2
LINGO2	158038	broad.mit.edu	36	9	27939742	27939742	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:27939742G>A	uc003zqu.1	-	c.928C>T	c.(928-930)CGC>TGC	p.R310C	LINGO2_uc010mjf.1_Missense_Mutation_p.R310C|LINGO2_uc003zqv.1_Missense_Mutation_p.R310C|LINGO2_uc010mjg.1_Missense_Mutation_p.R310C	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	310	LRR 11.|Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	Melanoma(11;0.242)	all_neural(11;2.78e-09)												0.368932	203.041698	206.153378	76	130	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	Missense_Mutation	SNP	27939742	27939742	9142	9	G	A	A	37	37	LINGO2	A	1	1
DOCK8	81704	broad.mit.edu	36	9	315674	315674	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:315674C>T	uc003zgf.1	+	c.831C>T	c.(829-831)TTC>TTT	p.F277F	DOCK8_uc003zgi.1_Silent_p.F209F|DOCK8_uc010mgu.1_5'UTR|DOCK8_uc010mgv.1_Silent_p.F209F|DOCK8_uc003zgg.1_Silent_p.F209F|DOCK8_uc003zgh.1_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	277					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)												0.326425	315.903689	326.227405	126	260	CC		KEEP	---	---	---	---	capture		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	Silent	SNP	315674	315674	4877	9	C	T	T	31	31	DOCK8	T	1	1
DOCK8	81704	broad.mit.edu	36	9	318143	318143	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:318143C>T	uc003zgf.1	+	c.1016C>T	c.(1015-1017)CCG>CTG	p.P339L	DOCK8_uc003zgi.1_Missense_Mutation_p.P271L|DOCK8_uc010mgu.1_5'UTR|DOCK8_uc010mgv.1_Missense_Mutation_p.P271L|DOCK8_uc003zgg.1_Missense_Mutation_p.P271L|DOCK8_uc003zgh.1_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	339	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)												0.135593	19.822223	35.0061	16	102	CC		KEEP	---	---	---	---	capture		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	Missense_Mutation	SNP	318143	318143	4877	9	C	T	T	23	23	DOCK8	T	1	1
ACO1	48	broad.mit.edu	36	9	32395520	32395520	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32395520G>A	uc003zqw.2	+	c.16G>A	c.(16-18)GCA>ACA	p.A6T	ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.2_Missense_Mutation_p.A6T|ACO1_uc003zqy.2_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	6					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0														0.388601	191.253167	193.359017	75	118	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	Missense_Mutation	SNP	32395520	32395520	147	9	G	A	A	38	38	ACO1	A	1	1
DDX58	23586	broad.mit.edu	36	9	32479365	32479365	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32479365T>G	uc003zra.1	-	c.776A>C	c.(775-777)AAC>ACC	p.N259T	DDX58_uc010mjj.1_Non-coding_Transcript|DDX58_uc010mjk.1_Missense_Mutation_p.N214T|DDX58_uc010mji.1_Missense_Mutation_p.N188T	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	259	Helicase ATP-binding.				innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|response to virus	cytosol	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4														0.169231	50.17528	63.633032	22	108	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	Missense_Mutation	SNP	32479365	32479365	4546	9	T	G	G	60	60	DDX58	G	4	4
TAF1L	138474	broad.mit.edu	36	9	32621290	32621290	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32621290C>T	uc003zrg.1	-	c.4288G>A	c.(4288-4290)GCA>ACA	p.A1430T		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1430	Bromo 1.				male meiosis|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|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20										234				0.356287	605.495337	617.677326	238	430	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	Missense_Mutation	SNP	32621290	32621290	16044	9	C	T	T	25	25	TAF1L	T	2	2
TAF1L	138474	broad.mit.edu	36	9	32621912	32621912	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32621912C>T	uc003zrg.1	-	c.3666G>A	c.(3664-3666)GAG>GAA	p.E1222E		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1222					male meiosis|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|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20										234				0.4	400.308004	403.37508	140	210	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	Silent	SNP	32621912	32621912	16044	9	C	T	T	32	32	TAF1L	T	2	2
TAF1L	138474	broad.mit.edu	36	9	32622620	32622620	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32622620C>T	uc003zrg.1	-	c.2958G>A	c.(2956-2958)AAG>AAA	p.K986K		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	986					male meiosis|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|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20										234				0.403766	562.946769	566.825351	193	285	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	Silent	SNP	32622620	32622620	16044	9	C	T	T	32	32	TAF1L	T	2	2
TAF1L	138474	broad.mit.edu	36	9	32623905	32623905	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32623905C>T	uc003zrg.1	-	c.1673G>A	c.(1672-1674)CGA>CAA	p.R558Q		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	558					male meiosis|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|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20										234				0.345886	649.365812	664.363294	248	469	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	Missense_Mutation	SNP	32623905	32623905	16044	9	C	T	T	31	31	TAF1L	T	1	1
TAF1L	138474	broad.mit.edu	36	9	32624323	32624323	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32624323C>T	uc003zrg.1	-	c.1255G>A	c.(1255-1257)GAA>AAA	p.E419K		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	419					male meiosis|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|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20										234				0.18851	203.451942	254.034603	105	452	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	Missense_Mutation	SNP	32624323	32624323	16044	9	C	T	T	31	31	TAF1L	T	1	1
TAF1L	138474	broad.mit.edu	36	9	32625562	32625562	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32625562C>T	uc003zrg.1	-	c.16G>A	c.(16-18)GAT>AAT	p.D6N		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	6					male meiosis|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|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20										234				0.35	142.948119	146.125591	56	104	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	Missense_Mutation	SNP	32625562	32625562	16044	9	C	T	T	31	31	TAF1L	T	1	1
TMEM215	401498	broad.mit.edu	36	9	32774238	32774238	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32774238C>A	uc003zri.2	+	c.57C>A	c.(55-57)GTC>GTA	p.V19V	TMEM215_uc010mjl.1_Silent_p.V19V	NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	19	Helical; (Potential).					integral to membrane					0														0.105634	14.122519	58.050198	30	254	CC		KEEP	---	---	---	---	capture			Silent	SNP	32774238	32774238	16674	9	C	A	A	32	32	TMEM215	A	3	3
APTX	54840	broad.mit.edu	36	9	32974665	32974665	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32974665C>T	uc003zrm.1	-	c.734G>A	c.(733-735)CGC>CAC	p.R245H	APTX_uc010mjm.1_Non-coding_Transcript|APTX_uc003zrj.1_Missense_Mutation_p.R157H|APTX_uc003zrk.1_Missense_Mutation_p.R71H|APTX_uc003zrl.1_Missense_Mutation_p.R71H|APTX_uc003zrn.1_Missense_Mutation_p.R157H|APTX_uc003zro.1_Missense_Mutation_p.R245H|APTX_uc003zrp.1_Missense_Mutation_p.R157H|APTX_uc003zrq.1_Missense_Mutation_p.R157H|APTX_uc003zrr.1_Missense_Mutation_p.R191H|APTX_uc003zrs.1_Missense_Mutation_p.R245H|APTX_uc003zry.1_Missense_Mutation_p.R245H|APTX_uc003zrt.1_Missense_Mutation_p.R157H|APTX_uc003zru.1_Missense_Mutation_p.R191H|APTX_uc003zrv.1_Missense_Mutation_p.R259H|APTX_uc010mjn.1_Missense_Mutation_p.R259H|APTX_uc003zrx.1_Missense_Mutation_p.R245H|APTX_uc003zrw.1_Missense_Mutation_p.R173H|APTX_uc003zrz.1_Missense_Mutation_p.R66H|APTX_uc003zsa.1_Missense_Mutation_p.R191H|APTX_uc003zsb.1_Non-coding_Transcript|APTX_uc003zsc.1_Non-coding_Transcript	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	259	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1														0.148472	41.316471	68.485721	34	195	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	Missense_Mutation	SNP	32974665	32974665	831	9	C	T	T	27	27	APTX	T	1	1
SPINK4	27290	broad.mit.edu	36	9	33236697	33236697	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33236697G>A	uc003zsh.1	+	c.186G>A	c.(184-186)ACG>ACA	p.T62T	SUGT1P1_uc010mjq.1_Intron	NM_014471	NP_055286	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	62	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0														0.156627	61.756012	89.787786	39	210	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00506)		Silent	SNP	33236697	33236697	15573	9	G	A	A	37	37	SPINK4	A	1	1
NFX1	4799	broad.mit.edu	36	9	33284676	33284676	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33284676C>T	uc003zsr.1	+	c.284C>T	c.(283-285)TCG>TTG	p.S95L	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zso.1_Missense_Mutation_p.S95L|NFX1_uc003zsp.1_Missense_Mutation_p.S95L|NFX1_uc010mjr.1_Missense_Mutation_p.S95L|NFX1_uc003zsq.1_Missense_Mutation_p.S95L	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	95					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														0.339858	499.539085	512.286388	191	371	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	Missense_Mutation	SNP	33284676	33284676	10787	9	C	T	T	31	31	NFX1	T	1	1
NFX1	4799	broad.mit.edu	36	9	33341561	33341561	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33341561C>T	uc003zsr.1	+	c.2431C>T	c.(2431-2433)CGG>TGG	p.R811W	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsp.1_Missense_Mutation_p.R810W|NFX1_uc010mjr.1_Missense_Mutation_p.R811W|NFX1_uc003zsq.1_Missense_Mutation_p.R810W	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	810					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														0.966102	379.008858	388.134525	114	4	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	Missense_Mutation	SNP	33341561	33341561	10787	9	C	T	T	31	31	NFX1	T	1	1
AQP7	364	broad.mit.edu	36	9	33375226	33375226	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33375226C>T	uc003zst.1	-	c.806G>A	c.(805-807)GGC>GAC	p.G269D	SUGT1P1_uc010mjq.1_Intron|AQP7_uc010mjs.1_3'UTR|AQP7_uc010mjt.1_3'UTR|AQP7_uc003zss.2_3'UTR|AQP7_uc003zsu.1_Nonsense_Mutation_p.W192*	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	269	Helical; (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0														0.250729	193.184661	212.559183	86	257	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	Missense_Mutation	SNP	33375226	33375226	842	9	C	T	T	26	26	AQP7	T	2	2
NOL6	65083	broad.mit.edu	36	9	33454044	33454044	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33454044G>A	uc003zsz.1	-	c.2895C>T	c.(2893-2895)CCC>CCT	p.P965P	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.1_Silent_p.P19P|NOL6_uc003zta.1_Intron|NOL6_uc010mjv.1_Silent_p.P962P|NOL6_uc003ztb.1_Silent_p.P965P	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	965					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2														0.524217	585.262842	585.439093	184	167	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	Silent	SNP	33454044	33454044	10928	9	G	A	A	35	35	NOL6	A	2	2
NOL6	65083	broad.mit.edu	36	9	33456647	33456647	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33456647G>A	uc003zsz.1	-	c.2011C>T	c.(2011-2013)CGC>TGC	p.R671C	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.1_5'Flank|NOL6_uc003zta.1_Intron|NOL6_uc010mjv.1_Missense_Mutation_p.R668C|NOL6_uc003ztb.1_Missense_Mutation_p.R671C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	671					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2												OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.497207	242.46197	242.463043	89	90	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	Missense_Mutation	SNP	33456647	33456647	10928	9	G	A	A	37	37	NOL6	A	1	1
UBE2R2	54926	broad.mit.edu	36	9	33890191	33890191	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33890191C>T	uc003ztm.1	+	c.284C>T	c.(283-285)TCG>TTG	p.S95L		NM_017811	NP_060281	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme UBC3B	95					post-translational protein modification|protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity				0														0.622881	442.865418	445.9947	147	89	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)	Missense_Mutation	SNP	33890191	33890191	17429	9	C	T	T	31	31	UBE2R2	T	1	1
UBAP2	55833	broad.mit.edu	36	9	33913290	33913290	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33913290A>G	uc003ztq.1	-	c.2898T>C	c.(2896-2898)GGT>GGC	p.G966G	UBAP2_uc003ztn.1_Silent_p.G205G|UBAP2_uc003zto.1_Silent_p.G205G|UBAP2_uc003ztp.1_Silent_p.G205G	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	966										ovary(3)	3														0.554167	956.21783	957.446853	266	214	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	Silent	SNP	33913290	33913290	17394	9	A	G	G	2	2	UBAP2	G	4	4
UBAP2	55833	broad.mit.edu	36	9	33988844	33988844	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33988844G>A	uc003ztq.1	-	c.118C>T	c.(118-120)CGT>TGT	p.R40C	UBAP2_uc003ztr.1_Missense_Mutation_p.R2C	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	40										ovary(3)	3														0.195122	91.671943	112.989458	48	198	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	Missense_Mutation	SNP	33988844	33988844	17394	9	G	A	A	38	38	UBAP2	A	1	1
DCAF12	25853	broad.mit.edu	36	9	34116419	34116419	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:34116419T>G	uc003ztt.1	-	c.11A>C	c.(10-12)AAA>ACA	p.K4T		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	WD repeat domain 40A	4					protein ubiquitination	centrosome|CUL4 RING ubiquitin ligase complex					0														0.227273	24.328172	27.331367	10	34	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34116419	34116419	4434	9	T	G	G	64	64	DCAF12	G	4	4
KIAA1161	57462	broad.mit.edu	36	9	34361846	34361846	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:34361846C>T	uc003zue.2	-	c.1096G>A	c.(1096-1098)GAT>AAT	p.D366N		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	366	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)	2														0.205882	54.918914	65.836681	28	108	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	Missense_Mutation	SNP	34361846	34361846	8519	9	C	T	T	31	31	KIAA1161	T	1	1
GALT	2592	broad.mit.edu	36	9	34638380	34638380	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:34638380C>T	uc003zve.1	+	c.614C>T	c.(613-615)TCT>TTT	p.S205F	GALT_uc003zvf.1_Missense_Mutation_p.S96F|GALT_uc003zvg.1_Missense_Mutation_p.S77F|GALT_uc003zvh.1_Missense_Mutation_p.S157F|IL11RA_uc003zvi.1_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	205					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)													0.620567	546.666977	550.264452	175	107	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	Missense_Mutation	SNP	34638380	34638380	6494	9	C	T	T	32	32	GALT	T	2	2
KIAA1045	23349	broad.mit.edu	36	9	34967131	34967131	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:34967131G>A	uc003zvr.1	+	c.901G>A	c.(901-903)GCC>ACC	p.A301T		NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	301							calcium ion binding|zinc ion binding				0														0.50431	311.478134	311.482407	117	115	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00575)		Missense_Mutation	SNP	34967131	34967131	8514	9	G	A	A	38	38	KIAA1045	A	1	1
C9orf131	138724	broad.mit.edu	36	9	35033198	35033198	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35033198G>T	uc003zvw.1	+	c.572G>T	c.(571-573)AGA>ATA	p.R191I	C9orf131_uc003zvu.1_Missense_Mutation_p.R143I|C9orf131_uc003zvv.1_Missense_Mutation_p.R118I|C9orf131_uc003zvx.1_Missense_Mutation_p.R156I	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	191											0	all_epithelial(49;0.22)													0.178451	87.875464	116.810273	53	244	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		Missense_Mutation	SNP	35033198	35033198	2570	9	G	T	T	33	33	C9orf131	T	3	3
C9orf131	138724	broad.mit.edu	36	9	35033852	35033852	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35033852G>T	uc003zvw.1	+	c.1226G>T	c.(1225-1227)AGA>ATA	p.R409I	C9orf131_uc003zvu.1_Missense_Mutation_p.R361I|C9orf131_uc003zvv.1_Missense_Mutation_p.R336I|C9orf131_uc003zvx.1_Missense_Mutation_p.R374I	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	409											0	all_epithelial(49;0.22)													0.578512	593.43631	595.377503	210	153	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		Missense_Mutation	SNP	35033852	35033852	2570	9	G	T	T	33	33	C9orf131	T	3	3
C9orf131	138724	broad.mit.edu	36	9	35034921	35034921	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35034921G>T	uc003zvw.1	+	c.2295G>T	c.(2293-2295)CAG>CAT	p.Q765H	C9orf131_uc003zvu.1_Missense_Mutation_p.Q717H|C9orf131_uc003zvv.1_Missense_Mutation_p.Q692H|C9orf131_uc003zvx.1_Missense_Mutation_p.Q730H	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	765											0	all_epithelial(49;0.22)													0.185102	142.157463	183.389386	82	361	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		Missense_Mutation	SNP	35034921	35034921	2570	9	G	T	T	33	33	C9orf131	T	3	3
C9orf131	138724	broad.mit.edu	36	9	35035721	35035721	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35035721G>A	uc003zvw.1	+	c.3095G>A	c.(3094-3096)CGC>CAC	p.R1032H	C9orf131_uc003zvu.1_Missense_Mutation_p.R984H|C9orf131_uc003zvv.1_Missense_Mutation_p.R959H|C9orf131_uc003zvx.1_Missense_Mutation_p.R997H	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	1032											0	all_epithelial(49;0.22)													0.407008	406.75759	409.557877	151	220	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		Missense_Mutation	SNP	35035721	35035721	2570	9	G	A	A	38	38	C9orf131	A	1	1
FANCG	2189	broad.mit.edu	36	9	35067041	35067041	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35067041G>A	uc003zwb.1	-	c.704C>T	c.(703-705)GCG>GTG	p.A235V	FANCG_uc003zwa.1_5'UTR|FANCG_uc010mkj.1_5'UTR	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	235					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)	3										126				0.539474	346.314923	346.622801	123	105	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Missense_Mutation	SNP	35067041	35067041	5904	9	G	A	A	38	38	FANCG	A	1	1
PIGO	84720	broad.mit.edu	36	9	35082073	35082073	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35082073C>T	uc003zwd.1	-	c.1811G>A	c.(1810-1812)CGC>CAC	p.R604H	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.1_Intron|PIGO_uc003zwf.1_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.R167H	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	604					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														0.384615	98.471336	99.685126	40	64	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Missense_Mutation	SNP	35082073	35082073	12318	9	C	T	T	27	27	PIGO	T	1	1
PIGO	84720	broad.mit.edu	36	9	35082578	35082578	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35082578G>A	uc003zwd.1	-	c.1306C>T	c.(1306-1308)CGG>TGG	p.R436W	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.1_Missense_Mutation_p.R436W|PIGO_uc003zwf.1_Missense_Mutation_p.R436W|PIGO_uc003zwg.1_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	436					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														0.142061	67.606275	111.950726	51	308	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Missense_Mutation	SNP	35082578	35082578	12318	9	G	A	A	37	37	PIGO	A	1	1
PIGO	84720	broad.mit.edu	36	9	35083070	35083070	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35083070G>A	uc003zwd.1	-	c.1076C>T	c.(1075-1077)TCT>TTT	p.S359F	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.1_Missense_Mutation_p.S359F|PIGO_uc003zwf.1_Missense_Mutation_p.S359F|PIGO_uc003zwg.1_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	359					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														0.261628	113.688346	122.538024	45	127	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Missense_Mutation	SNP	35083070	35083070	12318	9	G	A	A	33	33	PIGO	A	2	2
STOML2	30968	broad.mit.edu	36	9	35091940	35091940	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35091940G>A	uc003zwi.1	-	c.303C>T	c.(301-303)ATC>ATT	p.I101I	STOML2_uc003zwh.1_5'UTR|STOML2_uc003zwj.1_5'UTR|STOML2_uc003zwk.1_Silent_p.I50I	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	101						cytoskeleton	receptor binding				0														0.288557	141.75707	149.821626	58	143	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Silent	SNP	35091940	35091940	15834	9	G	A	A	37	37	STOML2	A	1	1
KIAA1539	80256	broad.mit.edu	36	9	35095360	35095360	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35095360G>A	uc003zwl.1	-	c.1475C>T	c.(1474-1476)TCC>TTC	p.S492F	STOML2_uc003zwh.1_5'Flank|STOML2_uc003zwi.1_5'Flank|STOML2_uc003zwj.1_5'Flank|STOML2_uc003zwk.1_5'Flank|KIAA1539_uc003zwm.1_Missense_Mutation_p.S492F|KIAA1539_uc003zwn.1_Missense_Mutation_p.S187F|KIAA1539_uc003zwo.1_Missense_Mutation_p.S492F	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	492						nucleus				ovary(1)	1	all_epithelial(49;0.217)													0.113208	9.517485	25.180343	12	94	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Missense_Mutation	SNP	35095360	35095360	8551	9	G	A	A	41	41	KIAA1539	A	2	2
KIAA1539	80256	broad.mit.edu	36	9	35095961	35095961	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35095961G>A	uc003zwl.1	-	c.1264C>T	c.(1264-1266)CCC>TCC	p.P422S	STOML2_uc003zwh.1_5'Flank|STOML2_uc003zwi.1_5'Flank|STOML2_uc003zwj.1_5'Flank|STOML2_uc003zwk.1_5'Flank|KIAA1539_uc003zwm.1_Missense_Mutation_p.P422S|KIAA1539_uc003zwn.1_Missense_Mutation_p.P117S|KIAA1539_uc003zwo.1_Missense_Mutation_p.P422S|KIAA1539_uc003zwp.1_Missense_Mutation_p.P422S|KIAA1539_uc010mkk.1_Non-coding_Transcript	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	422						nucleus				ovary(1)	1	all_epithelial(49;0.217)													0.178571	35.735208	46.627625	20	92	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Missense_Mutation	SNP	35095961	35095961	8551	9	G	A	A	42	42	KIAA1539	A	2	2
UNC13B	10497	broad.mit.edu	36	9	35233356	35233356	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35233356A>G	uc003zwr.1	+	c.463A>G	c.(463-465)AAT>GAT	p.N155D	UNC13B_uc010mkl.1_Missense_Mutation_p.N155D|UNC13B_uc003zwq.1_Missense_Mutation_p.N155D	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	155					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)	4	all_epithelial(49;0.212)													0.153846	98.922834	134.643099	48	264	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35233356	35233356	17543	9	A	G	G	5	5	UNC13B	G	4	4
RUSC2	9853	broad.mit.edu	36	9	35537328	35537328	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35537328C>T	uc003zww.1	+	c.810C>T	c.(808-810)AGC>AGT	p.S270S	RUSC2_uc010mkq.1_Non-coding_Transcript|RUSC2_uc003zwx.2_Silent_p.S270S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	270						cytosol				ovary(1)	1														0.182609	73.047407	94.712928	42	188	CC		KEEP	---	---	---	---	capture	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		Silent	SNP	35537328	35537328	14231	9	C	T	T	27	27	RUSC2	T	1	1
RUSC2	9853	broad.mit.edu	36	9	35537714	35537714	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35537714T>G	uc003zww.1	+	c.1196T>G	c.(1195-1197)CTT>CGT	p.L399R	RUSC2_uc010mkq.1_Non-coding_Transcript|RUSC2_uc003zwx.2_Missense_Mutation_p.L399R	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	399						cytosol				ovary(1)	1														0.173134	101.431257	135.256719	58	277	TT		KEEP	---	---	---	---	capture	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35537714	35537714	14231	9	T	G	G	56	56	RUSC2	G	4	4
RUSC2	9853	broad.mit.edu	36	9	35550483	35550483	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35550483C>T	uc003zww.1	+	c.3846C>T	c.(3844-3846)ATC>ATT	p.I1282I	RUSC2_uc010mkq.1_Non-coding_Transcript|RUSC2_uc003zwx.2_Silent_p.I1282I	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1282						cytosol				ovary(1)	1														0.158228	38.492912	56.077828	25	133	CC		KEEP	---	---	---	---	capture	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		Silent	SNP	35550483	35550483	14231	9	C	T	T	31	31	RUSC2	T	1	1
FAM166B	730112	broad.mit.edu	36	9	35553207	35553207	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35553207C>T	uc003zwy.1	-	c.242G>A	c.(241-243)CGT>CAT	p.R81H	FAM166B_uc010mkr.1_Missense_Mutation_p.R81H	NM_001099951	NP_001093421	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112	81											0														0.128079	57.621366	112.36577	52	354	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35553207	35553207	5686	9	C	T	T	19	19	FAM166B	T	1	1
TESK1	7016	broad.mit.edu	36	9	35599159	35599159	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35599159G>A	uc003zxa.1	+	c.1301G>A	c.(1300-1302)CGC>CAC	p.R434H	TESK1_uc003zwz.1_Non-coding_Transcript|TESK1_uc010mks.1_Missense_Mutation_p.R274H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	434					cell junction assembly|protein phosphorylation|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5										56				0.394578	329.143668	332.371311	131	201	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35599159	35599159	16294	9	G	A	A	38	38	TESK1	A	1	1
CD72	971	broad.mit.edu	36	9	35606172	35606172	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35606172C>A	uc003zxb.1	-	c.456G>T	c.(454-456)CAG>CAT	p.Q152H	CD72_uc003zxc.1_5'UTR|CD72_uc010mkt.1_5'UTR|CD72_uc010mku.1_Missense_Mutation_p.Q152H|CD72_uc010mkv.1_3'UTR|CD72_uc010mkw.1_Non-coding_Transcript	NM_001782	NP_001773	P21854	CD72_HUMAN	CD72 molecule	152	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity				0														0.175824	76.827854	103.894682	48	225	CC		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35606172	35606172	3162	9	C	A	A	32	32	CD72	A	3	3
CD72	971	broad.mit.edu	36	9	35606648	35606648	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35606648G>T	uc003zxb.1	-	c.301C>A	c.(301-303)CTC>ATC	p.L101I	CD72_uc003zxc.1_5'UTR|CD72_uc010mkt.1_5'UTR|CD72_uc010mku.1_Missense_Mutation_p.L101I|CD72_uc010mkv.1_Missense_Mutation_p.L101I|CD72_uc010mkw.1_Non-coding_Transcript	NM_001782	NP_001773	P21854	CD72_HUMAN	CD72 molecule	101	Helical; Signal-anchor for type II membrane protein; (Potential).				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity				0														0.141593	19.232075	33.24248	16	97	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35606648	35606648	3162	9	G	T	T	34	34	CD72	T	3	3
SIT1	27240	broad.mit.edu	36	9	35640185	35640185	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35640185G>A	uc003zxe.1	-	c.353C>T	c.(352-354)GCC>GTC	p.A118V	SIT1_uc003zxf.1_Non-coding_Transcript	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	118	Cytoplasmic (Potential).				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0														0.533981	322.757732	322.965968	110	96	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35640185	35640185	14839	9	G	A	A	42	42	SIT1	A	2	2
CCDC107	203260	broad.mit.edu	36	9	35650873	35650873	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35650873G>A	uc003zxi.1	+	c.541G>A	c.(541-543)GAG>AAG	p.E181K	C9orf100_uc003zxl.2_Non-coding_Transcript|C9orf100_uc003zxm.1_3'UTR|RMRP_uc003zxh.1_5'Flank|CCDC107_uc010mky.1_Intron|CCDC107_uc003zxj.1_Intron|CCDC107_uc003zxk.1_3'UTR	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	181						integral to membrane					0	all_epithelial(49;0.217)													0.155797	128.144532	190.705818	86	466	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35650873	35650873	2862	9	G	A	A	37	37	CCDC107	A	1	1
TLN1	7094	broad.mit.edu	36	9	35688157	35688157	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35688157C>T	uc003zxt.1	-	c.7384G>A	c.(7384-7386)GCA>ACA	p.A2462T		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2462	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|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			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)									587				0.5	244.517927	244.517927	87	87	CC		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35688157	35688157	16477	9	C	T	T	27	27	TLN1	T	1	1
TLN1	7094	broad.mit.edu	36	9	35688327	35688327	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35688327C>T	uc003zxt.1	-	c.7364G>A	c.(7363-7365)CGA>CAA	p.R2455Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2455	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|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			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)								p.R2455Q(JHUEM1-Tumor)	587				0.129213	27.613324	51.435879	23	155	CC		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35688327	35688327	16477	9	C	T	T	31	31	TLN1	T	1	1
TLN1	7094	broad.mit.edu	36	9	35689389	35689389	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35689389C>T	uc003zxt.1	-	c.6838G>A	c.(6838-6840)GTC>ATC	p.V2280I		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2280					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|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			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)									587				0.170732	31.65485	44.236	21	102	CC		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35689389	35689389	16477	9	C	T	T	19	19	TLN1	T	1	1
TLN1	7094	broad.mit.edu	36	9	35689984	35689984	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35689984T>C	uc003zxt.1	-	c.6755A>G	c.(6754-6756)GAC>GGC	p.D2252G		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2252					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|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			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)									587				0.313953	151.556701	156.937333	54	118	TT		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35689984	35689984	16477	9	T	C	C	58	58	TLN1	C	4	4
TLN1	7094	broad.mit.edu	36	9	35694360	35694360	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35694360G>A	uc003zxt.1	-	c.6016C>T	c.(6016-6018)CGT>TGT	p.R2006C		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2006					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|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			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)									587				0.375321	388.619654	393.939268	146	243	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35694360	35694360	16477	9	G	A	A	37	37	TLN1	A	1	1
TLN1	7094	broad.mit.edu	36	9	35700672	35700672	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35700672G>A	uc003zxt.1	-	c.4212C>T	c.(4210-4212)GGC>GGT	p.G1404G		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1404	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|cell-cell junction|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			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)									587				0.157895	31.19116	46.039544	21	112	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Silent	SNP	35700672	35700672	16477	9	G	A	A	38	38	TLN1	A	1	1
TLN1	7094	broad.mit.edu	36	9	35709254	35709254	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35709254G>A	uc003zxt.1	-	c.1713C>T	c.(1711-1713)ACC>ACT	p.T571T		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	571					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|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			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)									587				0.108108	7.443925	18.712864	8	66	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Silent	SNP	35709254	35709254	16477	9	G	A	A	39	39	TLN1	A	1	1
CREB3	10488	broad.mit.edu	36	9	35726424	35726424	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35726424G>T	uc003zxv.1	+	c.817G>T	c.(817-819)GAC>TAC	p.D273Y	CREB3_uc010mla.1_Missense_Mutation_p.D192Y	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	297	Lumenal (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|reactivation of latent virus|regulation of cell proliferation|regulation of transcription, DNA-dependent	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity				0	all_epithelial(49;0.167)											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.169291	60.868873	87.206988	43	211	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	Missense_Mutation	SNP	35726424	35726424	3994	9	G	T	T	41	41	CREB3	T	3	3
NPR2	4882	broad.mit.edu	36	9	35796426	35796426	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35796426C>T	uc003zyd.1	+	c.2410C>T	c.(2410-2412)CGC>TGC	p.R804C	NPR2_uc010mlb.1_Missense_Mutation_p.R780C	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	804	Cytoplasmic (Potential).				intracellular signal transduction|ossification|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(2)	2	all_epithelial(49;0.161)				Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)					170				0.548571	277.514959	277.876564	96	79	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35796426	35796426	11000	9	C	T	T	27	27	NPR2	T	1	1
NPR2	4882	broad.mit.edu	36	9	35798544	35798544	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35798544C>T	uc003zyd.1	+	c.2751C>T	c.(2749-2751)GGC>GGT	p.G917G	NPR2_uc010mlb.1_Silent_p.G893G|SPAG8_uc003zye.1_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	917	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|ossification|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(2)	2	all_epithelial(49;0.161)				Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)					170				0.186335	53.340785	68.125452	30	131	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Silent	SNP	35798544	35798544	11000	9	C	T	T	26	26	NPR2	T	2	2
SPAG8	26206	broad.mit.edu	36	9	35801717	35801717	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35801717C>T	uc003zye.1	-	c.326G>A	c.(325-327)GGG>GAG	p.G109E	SPAG8_uc003zyf.1_Missense_Mutation_p.G26E|SPAG8_uc003zyg.1_Missense_Mutation_p.G109E	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	109						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)									7				0.140496	54.721784	84.885905	34	208	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35801717	35801717	15487	9	C	T	T	22	22	SPAG8	T	2	2
HINT2	84681	broad.mit.edu	36	9	35803727	35803727	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35803727C>T	uc003zyh.1	-	c.136G>A	c.(136-138)GCA>ACA	p.A46T	SPAG8_uc003zye.1_5'Flank|SPAG8_uc003zyf.1_5'Flank|SPAG8_uc003zyg.1_5'Flank|HINT2_uc003zyi.1_Silent_p.R10R	NM_032593	NP_115982	Q9BX68	HINT2_HUMAN	PKCI-1-related HIT protein	46					apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity				0	all_epithelial(49;0.161)					GBM(185;1694 2122 5473 25431 37228)						OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.45122	105.979186	106.146327	37	45	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35803727	35803727	7397	9	C	T	T	26	26	HINT2	T	2	2
C9orf128	392307	broad.mit.edu	36	9	35811622	35811622	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35811622C>A	uc003zyj.1	-	c.746G>T	c.(745-747)AGA>ATA	p.R249I	C9orf128_uc010mlc.1_Intron	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	hypothetical protein LOC392307	Error:Variant_position_missing_in_A6H8Z2_after_alignment											0	all_epithelial(49;0.161)													0.178862	35.760408	47.721569	22	101	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35811622	35811622	2568	9	C	A	A	32	32	C9orf128	A	3	3
DOCK8	81704	broad.mit.edu	36	9	358134	358134	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:358134C>T	uc003zgf.1	+	c.1796C>T	c.(1795-1797)CCG>CTG	p.P599L	DOCK8_uc003zgi.1_Missense_Mutation_p.P531L|DOCK8_uc010mgu.1_5'UTR|DOCK8_uc010mgv.1_Missense_Mutation_p.P531L|DOCK8_uc010mgw.1_5'UTR|DOCK8_uc003zgk.1_Missense_Mutation_p.P2L|DOCK8_uc003zgh.1_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	599					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)												0.148276	73.233143	107.671244	43	247	CC		KEEP	---	---	---	---	capture		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	Missense_Mutation	SNP	358134	358134	4877	9	C	T	T	23	23	DOCK8	T	1	1
TMEM8B	51754	broad.mit.edu	36	9	35832603	35832603	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35832603C>A	uc003zyl.1	+	c.669C>A	c.(667-669)TTC>TTA	p.F223L	TMEM8B_uc003zyk.1_Missense_Mutation_p.F56L|TMEM8B_uc003zym.1_Missense_Mutation_p.F56L|TMEM8B_uc003zyn.1_Intron|TMEM8B_uc003zyo.1_Missense_Mutation_p.F56L	NM_016446	NP_057530	A6NDV4	TMM8B_HUMAN	chromosome 9 open reading frame 127 isoform b	56	Extracellular (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1														0.15942	31.249747	46.515795	22	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35832603	35832603	16755	9	C	A	A	32	32	TMEM8B	A	3	3
OR13J1	392309	broad.mit.edu	36	9	35859882	35859882	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35859882C>T	uc003zyq.1	-	c.517G>A	c.(517-519)GTG>ATG	p.V173M		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)													0.343434	168.542609	172.828412	68	130	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35859882	35859882	11350	9	C	T	T	19	19	OR13J1	T	1	1
CCIN	881	broad.mit.edu	36	9	36159670	36159670	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36159670C>A	uc003zzb.2	+	c.171C>A	c.(169-171)ATC>ATA	p.I57I		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	57	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)	1														0.191919	65.421255	83.000446	38	160	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Silent	SNP	36159670	36159670	3003	9	C	A	A	32	32	CCIN	A	3	3
CCIN	881	broad.mit.edu	36	9	36159848	36159848	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36159848C>T	uc003zzb.2	+	c.349C>T	c.(349-351)CGA>TGA	p.R117*		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	117	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)	1														0.370892	213.159222	216.282591	79	134	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Nonsense_Mutation	SNP	36159848	36159848	3003	9	C	T	T	31	31	CCIN	T	5	1
GNE	10020	broad.mit.edu	36	9	36212903	36212903	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36212903T>C	uc010mli.1	-	c.1597A>G	c.(1597-1599)ACC>GCC	p.T533A	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.1_Intron|GNE_uc010mlh.1_Missense_Mutation_p.T502A|GNE_uc010mlj.1_Missense_Mutation_p.T497A	NM_001128227	NP_001121699	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	502	UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0						GBM(184;106 2118 20004 35750 50727)								0.17193	107.350576	136.482165	49	236	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Missense_Mutation	SNP	36212903	36212903	6791	9	T	C	C	58	58	GNE	C	4	4
GNE	10020	broad.mit.edu	36	9	36223937	36223937	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36223937C>T	uc010mli.1	-	c.1055G>A	c.(1054-1056)CGT>CAT	p.R352H	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.1_Missense_Mutation_p.R321H|GNE_uc010mlh.1_Missense_Mutation_p.R321H|GNE_uc010mlj.1_Missense_Mutation_p.R316H	NM_001128227	NP_001121699	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	321	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0						GBM(184;106 2118 20004 35750 50727)								0.190852	227.184398	283.850899	121	513	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Missense_Mutation	SNP	36223937	36223937	6791	9	C	T	T	19	19	GNE	T	1	1
GNE	10020	broad.mit.edu	36	9	36224121	36224121	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36224121C>A	uc010mli.1	-	c.871G>T	c.(871-873)GAG>TAG	p.E291*	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.1_Nonsense_Mutation_p.E260*|GNE_uc010mlh.1_Nonsense_Mutation_p.E260*|GNE_uc010mlj.1_Nonsense_Mutation_p.E255*	NM_001128227	NP_001121699	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	260	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0						GBM(184;106 2118 20004 35750 50727)								0.306667	166.371749	173.882288	69	156	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Nonsense_Mutation	SNP	36224121	36224121	6791	9	C	A	A	32	32	GNE	A	5	3
RNF38	152006	broad.mit.edu	36	9	36334834	36334834	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36334834C>A	uc003zzh.1	-	c.1380G>T	c.(1378-1380)CAG>CAT	p.Q460H	RNF38_uc003zzi.1_Missense_Mutation_p.Q410H|RNF38_uc003zzj.1_Missense_Mutation_p.Q377H|RNF38_uc003zzk.1_Missense_Mutation_p.Q377H|RNF38_uc003zzl.1_Missense_Mutation_p.Q384H|RNF38_uc003zzm.1_Missense_Mutation_p.Q377H	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	460							zinc ion binding			central_nervous_system(1)	1														0.146199	31.544762	52.148778	25	146	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Missense_Mutation	SNP	36334834	36334834	13969	9	C	A	A	32	32	RNF38	A	3	3
RNF38	152006	broad.mit.edu	36	9	36365943	36365943	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36365943C>T	uc003zzh.1	-	c.344G>A	c.(343-345)CGC>CAC	p.R115H	RNF38_uc003zzi.1_Missense_Mutation_p.R65H|RNF38_uc003zzj.1_Missense_Mutation_p.R32H|RNF38_uc003zzk.1_Missense_Mutation_p.R32H|RNF38_uc003zzl.1_Silent_p.T6T|RNF38_uc003zzm.1_Missense_Mutation_p.R32H	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	115							zinc ion binding			central_nervous_system(1)	1														0.125	8.921763	18.820123	9	63	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Missense_Mutation	SNP	36365943	36365943	13969	9	C	T	T	27	27	RNF38	T	1	1
MELK	9833	broad.mit.edu	36	9	36633053	36633053	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36633053G>A	uc003zzn.1	+	c.894G>A	c.(892-894)AGG>AGA	p.R298R	MELK_uc010mll.1_Silent_p.R266R|MELK_uc010mlm.1_Silent_p.R227R	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	298					protein phosphorylation	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(1)|skin(1)	5		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)				Ovarian(82;980 1317 7225 14391 18624)				394				0.503597	209.376429	209.378403	70	69	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Silent	SNP	36633053	36633053	9859	9	G	A	A	42	42	MELK	A	2	2
ZBTB5	9925	broad.mit.edu	36	9	37431251	37431251	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37431251T>C	uc003zzx.1	-	c.1298A>G	c.(1297-1299)AAC>AGC	p.N433S	ZBTB5_uc010mlw.1_Missense_Mutation_p.N433S	NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.356436	228.063271	231.722313	72	130	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	Missense_Mutation	SNP	37431251	37431251	18138	9	T	C	C	60	60	ZBTB5	C	4	4
ZBTB5	9925	broad.mit.edu	36	9	37431853	37431853	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37431853G>T	uc003zzx.1	-	c.696C>A	c.(694-696)TTC>TTA	p.F232L	ZBTB5_uc010mlw.1_Missense_Mutation_p.F232L	NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.536585	479.858035	480.235915	176	152	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	Missense_Mutation	SNP	37431853	37431853	18138	9	G	T	T	33	33	ZBTB5	T	3	3
FRMPD1	22844	broad.mit.edu	36	9	37701388	37701388	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37701388C>T	uc004aag.1	+	c.404C>T	c.(403-405)ACG>ATG	p.T135M	FRMPD1_uc004aah.1_Missense_Mutation_p.T135M	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	135	PDZ.					cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7														0.52381	801.210622	801.467962	275	250	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00655)	Missense_Mutation	SNP	37701388	37701388	6307	9	C	T	T	19	19	FRMPD1	T	1	1
FRMPD1	22844	broad.mit.edu	36	9	37723800	37723800	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37723800G>T	uc004aag.1	+	c.1196G>T	c.(1195-1197)AGA>ATA	p.R399I	FRMPD1_uc004aah.1_Missense_Mutation_p.R399I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	399	FERM.					cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7														0.160221	86.490044	126.32138	58	304	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00655)	Missense_Mutation	SNP	37723800	37723800	6307	9	G	T	T	33	33	FRMPD1	T	3	3
FRMPD1	22844	broad.mit.edu	36	9	37730648	37730648	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37730648G>A	uc004aag.1	+	c.2123G>A	c.(2122-2124)AGC>AAC	p.S708N	FRMPD1_uc004aah.1_Missense_Mutation_p.S708N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	708						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7														0.154545	25.163052	37.665872	17	93	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00655)	Missense_Mutation	SNP	37730648	37730648	6307	9	G	A	A	34	34	FRMPD1	A	2	2
FRMPD1	22844	broad.mit.edu	36	9	37735714	37735714	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37735714G>A	uc004aag.1	+	c.3685G>A	c.(3685-3687)GAG>AAG	p.E1229K	FRMPD1_uc004aah.1_Missense_Mutation_p.E1229K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1229						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7														0.483333	432.048973	432.121514	145	155	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00655)	Missense_Mutation	SNP	37735714	37735714	6307	9	G	A	A	33	33	FRMPD1	A	2	2
RG9MTD3	158234	broad.mit.edu	36	9	37751953	37751953	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37751953A>G	uc004aai.1	+	c.25A>G	c.(25-27)ACT>GCT	p.T9A	RG9MTD3_uc004aaj.1_Non-coding_Transcript|RG9MTD3_uc004aak.1_5'UTR	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain	9							methyltransferase activity				0														0.134146	19.976328	30.613978	11	71	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)	Missense_Mutation	SNP	37751953	37751953	13746	9	A	G	G	14	14	RG9MTD3	G	4	4
MCART1	92014	broad.mit.edu	36	9	37877975	37877975	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37877975G>A	uc004aau.1	-	c.573C>T	c.(571-573)TTC>TTT	p.F191F	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|MCART1_uc004aav.1_Silent_p.F191F|MCART1_uc010mma.1_Silent_p.F191F	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	191	Helical; Name=4; (Potential).|Solcar 2.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3														0.584906	455.945598	457.612175	155	110	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)	Silent	SNP	37877975	37877975	9758	9	G	A	A	37	37	MCART1	A	1	1
ALDH1B1	219	broad.mit.edu	36	9	38387266	38387266	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:38387266G>A	uc004aay.1	+	c.1521G>A	c.(1519-1521)ACG>ACA	p.T507T	ALDH1B1_uc010mmb.1_Silent_p.T507T	NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	507					carbohydrate metabolic process|oxidation-reduction process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity				0					NADH(DB00157)									0.206186	47.54846	55.309378	20	77	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	Silent	SNP	38387266	38387266	496	9	G	A	A	39	39	ALDH1B1	A	1	1
DOCK8	81704	broad.mit.edu	36	9	397023	397023	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:397023C>A	uc003zgf.1	+	c.3484C>A	c.(3484-3486)CTC>ATC	p.L1162I	DOCK8_uc003zgi.1_Missense_Mutation_p.L1094I|DOCK8_uc010mgu.1_Missense_Mutation_p.L464I|DOCK8_uc010mgv.1_Missense_Mutation_p.L1062I|DOCK8_uc003zgk.1_Missense_Mutation_p.L620I	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1162					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)												0.15748	60.447989	88.872632	40	214	CC		KEEP	---	---	---	---	capture		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	Missense_Mutation	SNP	397023	397023	4877	9	C	A	A	28	28	DOCK8	A	3	3
ZNF658	26149	broad.mit.edu	36	9	40762738	40762738	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:40762738C>T	uc004abs.2	-	c.2537G>A	c.(2536-2538)AGA>AAA	p.R846K	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.R846K	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	846	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.252874	162.415593	176.896396	66	195	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	Missense_Mutation	SNP	40762738	40762738	18664	9	C	T	T	32	32	ZNF658	T	2	2
ANKRD20A3	441425	broad.mit.edu	36	9	42358532	42358532	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:42358532C>T	uc004acd.1	+	c.122C>T	c.(121-123)GCT>GTT	p.A41V	ANKRD20A3_uc010mmv.1_Missense_Mutation_p.A41V	NM_001012419	NP_001012421	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	41											0														0.120301	17.303424	36.115984	16	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42358532	42358532	654	9	C	T	T	28	28	ANKRD20A3	T	2	2
DOCK8	81704	broad.mit.edu	36	9	453545	453545	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:453545C>T	uc003zgf.1	+	c.6097C>T	c.(6097-6099)CGT>TGT	p.R2033C	DOCK8_uc003zgi.1_Missense_Mutation_p.R1965C|DOCK8_uc010mgu.1_Missense_Mutation_p.R1335C|DOCK8_uc010mgv.1_Missense_Mutation_p.R1933C|DOCK8_uc003zgk.1_Missense_Mutation_p.R1491C	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2033					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R1965C(1)		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)												0.215054	78.68534	92.64538	40	146	CC		KEEP	---	---	---	---	capture		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	Missense_Mutation	SNP	453545	453545	4877	9	C	T	T	27	27	DOCK8	T	1	1
C9orf68	55064	broad.mit.edu	36	9	4652028	4652028	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:4652028G>A	uc010mhj.1	-	c.48C>T	c.(46-48)TGC>TGT	p.C16C	C9orf68_uc003zik.1_Non-coding_Transcript|C9orf68_uc003zil.2_Non-coding_Transcript|C9orf68_uc003zim.2_Silent_p.C16C|PPAPDC2_uc003zin.1_5'Flank	NM_001039395	NP_001034484	B4DIY4	B4DIY4_HUMAN	hypothetical protein LOC55064	16											0		Breast(48;0.0456)										OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.341176	77.144029	79.041293	29	56	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0222)	Silent	SNP	4652028	4652028	2607	9	G	A	A	42	42	C9orf68	A	2	2
JAK2	3717	broad.mit.edu	36	9	5044592	5044592	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5044592G>A	uc010mhm.1	+	c.644G>A	c.(643-645)CGA>CAA	p.R215Q	JAK2_uc003ziw.1_Missense_Mutation_p.R215Q	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	215	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(28274)|lung(5)|breast(4)|ovary(1)|liver(1)	28285	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)						1		432				0.379213	369.833571	374.391625	135	221	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Missense_Mutation	SNP	5044592	5044592	8242	9	G	A	A	37	37	JAK2	A	1	1
JAK2	3717	broad.mit.edu	36	9	5045687	5045687	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5045687G>A	uc010mhm.1	+	c.955G>A	c.(955-957)GAT>AAT	p.D319N	JAK2_uc003ziw.1_Missense_Mutation_p.D319N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	319	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(28274)|lung(5)|breast(4)|ovary(1)|liver(1)	28285	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)						1	p.D319N(HT115-Tumor)	432				0.586957	162.563067	163.17153	54	38	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Missense_Mutation	SNP	5045687	5045687	8242	9	G	A	A	37	37	JAK2	A	1	1
JAK2	3717	broad.mit.edu	36	9	5062541	5062541	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5062541G>A	uc010mhm.1	+	c.1691G>A	c.(1690-1692)CGA>CAA	p.R564Q	JAK2_uc003ziw.1_Missense_Mutation_p.R564Q	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	564	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.R564L(3)|p.R564Q(2)	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28274)|lung(5)|breast(4)|ovary(1)|liver(1)	28285	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)						1		432				0.157895	42.210857	61.303684	27	144	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Missense_Mutation	SNP	5062541	5062541	8242	9	G	A	A	37	37	JAK2	A	1	1
INSL6	11172	broad.mit.edu	36	9	5175504	5175504	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5175504G>A	uc003zix.1	-	c.99C>T	c.(97-99)TGC>TGT	p.C33C		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	33						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)												0.194631	51.585651	64.554653	29	120	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	Silent	SNP	5175504	5175504	8071	9	G	A	A	38	38	INSL6	A	1	1
CD274	29126	broad.mit.edu	36	9	5452929	5452929	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5452929G>A	uc003zje.1	+	c.490G>A	c.(490-492)GAA>AAA	p.E164K	C9orf46_uc003zjd.1_Intron|CD274_uc010mhn.1_Non-coding_Transcript|CD274_uc003zjf.1_Missense_Mutation_p.E50K	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	164	Ig-like C2-type.|Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			lung(1)|central_nervous_system(1)	2	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)												0.296296	156.280289	164.322253	64	152	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)	Missense_Mutation	SNP	5452929	5452929	3119	9	G	A	A	37	37	CD274	A	1	1
KIAA1432	57589	broad.mit.edu	36	9	5746228	5746228	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5746228G>A	uc003zji.1	+	c.1472G>A	c.(1471-1473)CGA>CAA	p.R491Q	KIAA1432_uc003zjh.2_Missense_Mutation_p.R491Q|KIAA1432_uc003zjj.1_Missense_Mutation_p.R33Q	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	570						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)												0.363636	139.765568	142.102884	52	91	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	Missense_Mutation	SNP	5746228	5746228	8542	9	G	A	A	37	37	KIAA1432	A	1	1
ERMP1	79956	broad.mit.edu	36	9	5791254	5791254	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5791254G>A	uc003zjm.1	-	c.1989C>T	c.(1987-1989)TTC>TTT	p.F663F	ERMP1_uc010mhq.1_Non-coding_Transcript|ERMP1_uc010mhr.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Silent_p.F277F	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	663	Helical; (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)												0.173709	67.229417	88.65286	37	176	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	Silent	SNP	5791254	5791254	5429	9	G	A	A	41	41	ERMP1	A	2	2
KIAA2026	158358	broad.mit.edu	36	9	5911026	5911026	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5911026C>T	uc003zjq.2	-	c.4970G>A	c.(4969-4971)GGA>GAA	p.G1657E	KIAA2026_uc010mht.1_Missense_Mutation_p.G832E	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1657										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)												0.342857	289.196793	296.072236	108	207	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	Missense_Mutation	SNP	5911026	5911026	8581	9	C	T	T	30	30	KIAA2026	T	2	2
KIAA2026	158358	broad.mit.edu	36	9	5919143	5919143	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5919143C>T	uc003zjq.2	-	c.2399G>A	c.(2398-2400)CGG>CAG	p.R800Q	KIAA2026_uc010mht.1_5'UTR	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	800										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)												0.227848	80.020274	90.757931	36	122	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	Missense_Mutation	SNP	5919143	5919143	8581	9	C	T	T	23	23	KIAA2026	T	1	1
KIAA2026	158358	broad.mit.edu	36	9	5959381	5959381	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5959381C>A	uc003zjq.2	-	c.850G>T	c.(850-852)GAA>TAA	p.E284*		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	284										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)												0.134328	10.224635	18.920466	9	58	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	Nonsense_Mutation	SNP	5959381	5959381	8581	9	C	A	A	32	32	KIAA2026	A	5	3
KIAA2026	158358	broad.mit.edu	36	9	5978361	5978361	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5978361C>T	uc003zjq.2	-	c.778G>A	c.(778-780)GCA>ACA	p.A260T		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	260										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)												0.285714	145.90495	154.564436	60	150	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	Missense_Mutation	SNP	5978361	5978361	8581	9	C	T	T	28	28	KIAA2026	T	2	2
RANBP6	26953	broad.mit.edu	36	9	6005182	6005182	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:6005182C>T	uc003zjr.1	-	c.426G>A	c.(424-426)AAG>AAA	p.K142K	RANBP6_uc003zjs.1_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	142					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)												0.175758	51.474217	67.83511	29	136	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	Silent	SNP	6005182	6005182	13491	9	C	T	T	20	20	RANBP6	T	2	2
UHRF2	115426	broad.mit.edu	36	9	6488120	6488120	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:6488120G>T	uc003zjy.1	+	c.1870G>T	c.(1870-1872)GGA>TGA	p.G624*	UHRF2_uc003zjz.1_Non-coding_Transcript|UHRF2_uc003zkb.1_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	624	Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(23;0.158)												0.22069	66.911737	77.336083	32	113	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	Nonsense_Mutation	SNP	6488120	6488120	17528	9	G	T	T	35	35	UHRF2	T	5	3
UHRF2	115426	broad.mit.edu	36	9	6490695	6490695	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:6490695C>A	uc003zjy.1	+	c.2149C>A	c.(2149-2151)CTT>ATT	p.L717I	UHRF2_uc003zjz.1_Non-coding_Transcript|UHRF2_uc003zkb.1_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	717					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(23;0.158)												0.390244	168.243482	169.979873	64	100	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	Missense_Mutation	SNP	6490695	6490695	17528	9	C	A	A	32	32	UHRF2	A	3	3
KDM4C	23081	broad.mit.edu	36	9	6974319	6974319	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:6974319G>A	uc003zkh.1	+	c.1269G>A	c.(1267-1269)AGG>AGA	p.R423R	KDM4C_uc010mhu.1_Silent_p.R445R|KDM4C_uc003zkg.1_Silent_p.R423R	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C	423					oxidation-reduction process|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1														0.179724	73.893527	94.83478	39	178	GG		KEEP	---	---	---	---	capture			Silent	SNP	6974319	6974319	8436	9	G	A	A	41	41	KDM4C	A	2	2
KDM4C	23081	broad.mit.edu	36	9	6976483	6976483	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:6976483G>T	uc003zkh.1	+	c.1494G>T	c.(1492-1494)GAG>GAT	p.E498D	KDM4C_uc010mhu.1_Missense_Mutation_p.E520D|KDM4C_uc003zkg.1_Missense_Mutation_p.E498D	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C	498					oxidation-reduction process|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1														0.186047	51.184642	67.099573	32	140	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6976483	6976483	8436	9	G	T	T	33	33	KDM4C	T	3	3
KANK1	23189	broad.mit.edu	36	9	701367	701367	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:701367G>A	uc003zgl.1	+	c.601G>A	c.(601-603)GGT>AGT	p.G201S	KANK1_uc003zgm.2_Missense_Mutation_p.G201S|KANK1_uc003zgn.1_Missense_Mutation_p.G201S|KANK1_uc003zgo.1_Missense_Mutation_p.G201S|KANK1_uc003zgp.1_Missense_Mutation_p.G201S|KANK1_uc003zgq.2_Missense_Mutation_p.G43S|KANK1_uc003zgr.1_Missense_Mutation_p.G43S|KANK1_uc003zgs.1_Missense_Mutation_p.G43S	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	201					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)												0.176471	41.610321	53.343482	21	98	GG		KEEP	---	---	---	---	capture		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	Missense_Mutation	SNP	701367	701367	8280	9	G	A	A	43	43	KANK1	A	2	2
TJP2	9414	broad.mit.edu	36	9	71021195	71021195	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71021195C>T	uc004ahe.1	+	c.235C>T	c.(235-237)CTC>TTC	p.L79F	TJP2_uc004ahd.2_Missense_Mutation_p.L79F|TJP2_uc004ahf.1_Missense_Mutation_p.L79F|TJP2_uc004ahb.1_Missense_Mutation_p.L56F	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	79	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0														0.203125	56.881907	67.35549	26	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71021195	71021195	16459	9	C	T	T	28	28	TJP2	T	2	2
TJP2	9414	broad.mit.edu	36	9	71030138	71030138	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71030138C>A	uc004ahe.1	+	c.1051C>A	c.(1051-1053)CTC>ATC	p.L351I	TJP2_uc004ahd.2_Missense_Mutation_p.L351I|TJP2_uc004ahf.1_Missense_Mutation_p.L351I	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	351	PDZ 2.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0														0.166667	18.648582	26.242488	12	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71030138	71030138	16459	9	C	A	A	32	32	TJP2	A	3	3
FAM189A2	9413	broad.mit.edu	36	9	71176245	71176245	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71176245T>G	uc010mon.1	+	c.23T>G	c.(22-24)TTT>TGT	p.F8C	FAM189A2_uc004ahg.2_Missense_Mutation_p.F8C	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61	8						integral to membrane					0														0.17052	139.24258	174.738077	59	287	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71176245	71176245	5727	9	T	G	G	64	64	FAM189A2	G	4	4
KDM4C	23081	broad.mit.edu	36	9	7118203	7118203	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:7118203C>A	uc003zkh.1	+	c.2748C>A	c.(2746-2748)TCC>TCA	p.S916S	KDM4C_uc003zkg.1_Silent_p.S916S	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C	916	Tudor 1.				oxidation-reduction process|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1														0.116162	17.967627	46.713202	23	175	CC		KEEP	---	---	---	---	capture			Silent	SNP	7118203	7118203	8436	9	C	A	A	24	24	KDM4C	A	3	3
FAM189A2	9413	broad.mit.edu	36	9	71182114	71182114	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71182114C>A	uc010mon.1	+	c.261C>A	c.(259-261)CTC>CTA	p.L87L	FAM189A2_uc004ahg.2_Silent_p.L87L|FAM189A2_uc010moo.1_5'UTR	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61	87	Helical; (Potential).					integral to membrane					0														0.210843	66.9167	79.774209	35	131	CC		KEEP	---	---	---	---	capture			Silent	SNP	71182114	71182114	5727	9	C	A	A	32	32	FAM189A2	A	3	3
FAM189A2	9413	broad.mit.edu	36	9	71182379	71182379	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71182379G>T	uc010mon.1	+	c.393G>T	c.(391-393)GAG>GAT	p.E131D	FAM189A2_uc004ahg.2_Missense_Mutation_p.E131D|FAM189A2_uc010moo.1_De_novo_Start_OutOfFrame	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61	131						integral to membrane					0														0.167785	41.094499	56.670075	25	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71182379	71182379	5727	9	G	T	T	35	35	FAM189A2	T	3	3
FAM189A2	9413	broad.mit.edu	36	9	71190557	71190557	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71190557G>A	uc010mon.1	+	c.730G>A	c.(730-732)GAA>AAA	p.E244K	FAM189A2_uc004ahg.2_Missense_Mutation_p.E244K|FAM189A2_uc010moo.1_Missense_Mutation_p.E79K	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61	244						integral to membrane					0														0.684211	79.159668	80.306193	26	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71190557	71190557	5727	9	G	A	A	37	37	FAM189A2	A	1	1
FAM189A2	9413	broad.mit.edu	36	9	71192990	71192990	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71192990C>T	uc010mon.1	+	c.953C>T	c.(952-954)TCG>TTG	p.S318L	FAM189A2_uc004ahg.2_Missense_Mutation_p.S318L|FAM189A2_uc010moo.1_Intron	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61	318						integral to membrane					0														0.715152	354.891927	361.746957	118	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71192990	71192990	5727	9	C	T	T	31	31	FAM189A2	T	1	1
APBA1	320	broad.mit.edu	36	9	71256953	71256953	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71256953C>A	uc004ahh.1	-	c.1873G>T	c.(1873-1875)GAT>TAT	p.D625Y		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	625	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1														0.197026	94.289848	117.333273	53	216	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71256953	71256953	766	9	C	A	A	32	32	APBA1	A	3	3
APBA1	320	broad.mit.edu	36	9	71321088	71321088	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71321088C>T	uc004ahh.1	-	c.859G>A	c.(859-861)GAC>AAC	p.D287N		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	287	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1														0.212766	18.526717	22.111139	10	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71321088	71321088	766	9	C	T	T	31	31	APBA1	T	1	1
APBA1	320	broad.mit.edu	36	9	71321251	71321251	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71321251G>A	uc004ahh.1	-	c.696C>T	c.(694-696)GGC>GGT	p.G232G		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	232	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1														0.27907	24.839772	26.694451	12	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	71321251	71321251	766	9	G	A	A	38	38	APBA1	A	1	1
PTAR1	375743	broad.mit.edu	36	9	71528290	71528290	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71528290C>T	uc004ahj.2	-	c.719G>A	c.(718-720)CGC>CAC	p.R240H	PTAR1_uc004ahi.2_Missense_Mutation_p.R161H	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	240	PFTA 4.				protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1														0.222857	78.232331	90.599169	39	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71528290	71528290	13178	9	C	T	T	27	27	PTAR1	T	1	1
MAMDC2	256691	broad.mit.edu	36	9	71975216	71975216	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71975216G>T	uc004ahm.1	+	c.1500G>T	c.(1498-1500)GAG>GAT	p.E500D	MAMDC2_uc004ahn.1_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	500						endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2														0.224599	87.545156	100.588193	42	145	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71975216	71975216	9586	9	G	T	T	33	33	MAMDC2	T	3	3
MAMDC2	256691	broad.mit.edu	36	9	72023189	72023189	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:72023189T>C	uc004ahm.1	+	c.1768T>C	c.(1768-1770)TAT>CAT	p.Y590H	MAMDC2_uc004ahn.1_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	590	MAM 4.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2														0.235669	103.216175	113.231444	37	120	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72023189	72023189	9586	9	T	C	C	57	57	MAMDC2	C	4	4
SMC5	23137	broad.mit.edu	36	9	72063851	72063851	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:72063851C>T	uc004ahr.2	+	c.37C>T	c.(37-39)CCC>TCC	p.P13S		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	13					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3														0.146341	10.189009	15.063917	6	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72063851	72063851	15284	9	C	T	T	22	22	SMC5	T	2	2
TRPM3	80036	broad.mit.edu	36	9	72342028	72342028	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:72342028C>T	uc004aid.1	-	c.3785G>A	c.(3784-3786)CGC>CAC	p.R1262H	TRPM3_uc004ahu.1_Missense_Mutation_p.R1104H|TRPM3_uc004ahv.1_Missense_Mutation_p.R1064H|TRPM3_uc004ahw.1_Missense_Mutation_p.R1134H|TRPM3_uc004ahx.1_Missense_Mutation_p.R1121H|TRPM3_uc004ahy.1_Missense_Mutation_p.R1124H|TRPM3_uc004ahz.1_Missense_Mutation_p.R1111H|TRPM3_uc004aia.1_Missense_Mutation_p.R1109H|TRPM3_uc004aib.1_Missense_Mutation_p.R1099H|TRPM3_uc004aic.2_Missense_Mutation_p.R1262H	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1287	Cytoplasmic (Potential).|Potential.					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.252033	66.088694	72.9464	31	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72342028	72342028	17138	9	C	T	T	27	27	TRPM3	T	1	1
TRPM3	80036	broad.mit.edu	36	9	72395866	72395866	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:72395866G>T	uc004aid.1	-	c.3088C>A	c.(3088-3090)CTT>ATT	p.L1030I	TRPM3_uc004ahu.1_Missense_Mutation_p.L860I|TRPM3_uc004ahv.1_Missense_Mutation_p.L832I|TRPM3_uc004ahw.1_Missense_Mutation_p.L902I|TRPM3_uc004ahx.1_Missense_Mutation_p.L889I|TRPM3_uc004ahy.1_Missense_Mutation_p.L892I|TRPM3_uc004ahz.1_Missense_Mutation_p.L879I|TRPM3_uc004aia.1_Missense_Mutation_p.L877I|TRPM3_uc004aib.1_Missense_Mutation_p.L867I|TRPM3_uc004aic.2_Missense_Mutation_p.L1030I	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1055	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.169173	72.990924	100.579949	45	221	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72395866	72395866	17138	9	G	T	T	35	35	TRPM3	T	3	3
TRPM3	80036	broad.mit.edu	36	9	72408168	72408168	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:72408168G>A	uc004aid.1	-	c.2670C>T	c.(2668-2670)ATC>ATT	p.I890I	TRPM3_uc004ahu.1_Silent_p.I720I|TRPM3_uc004ahv.1_Silent_p.I692I|TRPM3_uc004ahw.1_Silent_p.I762I|TRPM3_uc004ahx.1_Silent_p.I749I|TRPM3_uc004ahy.1_Silent_p.I752I|TRPM3_uc004ahz.1_Silent_p.I739I|TRPM3_uc004aia.1_Silent_p.I737I|TRPM3_uc004aib.1_Silent_p.I727I|TRPM3_uc004aic.2_Silent_p.I890I	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	915	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.2	70.508795	85.571397	36	144	GG		KEEP	---	---	---	---	capture			Silent	SNP	72408168	72408168	17138	9	G	A	A	37	37	TRPM3	A	1	1
TRPM3	80036	broad.mit.edu	36	9	72424844	72424844	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:72424844G>A	uc004aid.1	-	c.2061C>T	c.(2059-2061)GAC>GAT	p.D687D	TRPM3_uc004ahu.1_Silent_p.D517D|TRPM3_uc004ahv.1_Silent_p.D489D|TRPM3_uc004ahw.1_Silent_p.D559D|TRPM3_uc004ahx.1_Silent_p.D546D|TRPM3_uc004ahy.1_Silent_p.D549D|TRPM3_uc004ahz.1_Silent_p.D536D|TRPM3_uc004aia.1_Silent_p.D534D|TRPM3_uc004aib.1_Silent_p.D524D|TRPM3_uc004aic.2_Silent_p.D687D	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	712	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.188525	41.153261	52.235293	23	99	GG		KEEP	---	---	---	---	capture			Silent	SNP	72424844	72424844	17138	9	G	A	A	40	40	TRPM3	A	1	1
TMEM2	23670	broad.mit.edu	36	9	73509413	73509413	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:73509413C>T	uc004aij.1	-	c.3112G>A	c.(3112-3114)GTC>ATC	p.V1038I	TMEM2_uc010mos.1_Missense_Mutation_p.V975I	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1038						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)												0.207921	80.651653	96.610636	42	160	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	Missense_Mutation	SNP	73509413	73509413	16656	9	C	T	T	19	19	TMEM2	T	1	1
TMEM2	23670	broad.mit.edu	36	9	73550297	73550297	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:73550297T>G	uc004aij.1	-	c.491A>C	c.(490-492)GAC>GCC	p.D164A	TMEM2_uc010mos.1_Missense_Mutation_p.D164A	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	164	G8.					integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)												0.230303	101.88508	112.870503	38	127	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	Missense_Mutation	SNP	73550297	73550297	16656	9	T	G	G	58	58	TMEM2	G	4	4
FAM108B1	51104	broad.mit.edu	36	9	73679602	73679602	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:73679602C>A	uc004ail.1	-	c.215G>T	c.(214-216)AGA>ATA	p.R72I	FAM108B1_uc004aim.1_Missense_Mutation_p.R72I	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	family with sequence similarity 108, member B1	72					proteolysis	extracellular region	serine-type peptidase activity				0														0.164983	73.561107	105.239982	49	248	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73679602	73679602	5589	9	C	A	A	32	32	FAM108B1	A	3	3
ALDH1A1	216	broad.mit.edu	36	9	74710700	74710700	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:74710700C>T	uc004ajd.1	-	c.1427G>A	c.(1426-1428)AGA>AAA	p.R476K		NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	476					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)									0.24	56.84578	63.019305	24	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74710700	74710700	493	9	C	T	T	32	32	ALDH1A1	T	2	2
ALDH1A1	216	broad.mit.edu	36	9	74735626	74735626	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:74735626G>T	uc004ajd.1	-	c.301C>A	c.(301-303)CTG>ATG	p.L101M		NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	101					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)									0.244514	163.961057	182.960053	78	241	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74735626	74735626	493	9	G	T	T	33	33	ALDH1A1	T	3	3
ALDH1A1	216	broad.mit.edu	36	9	74744891	74744891	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:74744891C>T	uc004ajd.1	-	c.164G>A	c.(163-165)GGA>GAA	p.G55E		NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	55					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)									0.128049	25.961432	48.076333	21	143	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74744891	74744891	493	9	C	T	T	30	30	ALDH1A1	T	2	2
RORB	6096	broad.mit.edu	36	9	76447198	76447198	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:76447198C>T	uc004aji.1	+	c.317C>T	c.(316-318)GCT>GTT	p.A106V	RORB_uc004ajh.1_Missense_Mutation_p.A95V	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	106	Hinge (Potential).				eye photoreceptor cell development|positive regulation of gene-specific transcription|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)	3														0.222798	98.91677	112.561855	43	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76447198	76447198	14008	9	C	T	T	28	28	RORB	T	2	2
TRPM6	140803	broad.mit.edu	36	9	76567779	76567779	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:76567779G>A	uc004ajl.1	-	c.3628C>T	c.(3628-3630)CAC>TAC	p.H1210Y	TRPM6_uc004ajj.1_Missense_Mutation_p.H166Y|TRPM6_uc004ajk.1_Missense_Mutation_p.H1205Y|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1210	Cytoplasmic (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.213873	71.86825	84.964532	37	136	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76567779	76567779	17141	9	G	A	A	48	48	TRPM6	A	2	2
TRPM6	140803	broad.mit.edu	36	9	76601563	76601563	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:76601563A>G	uc004ajl.1	-	c.2305T>C	c.(2305-2307)TCA>CCA	p.S769P	TRPM6_uc004ajk.1_Missense_Mutation_p.S764P|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.S147P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	769	Extracellular (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.237354	161.655637	177.850746	61	196	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76601563	76601563	17141	9	A	G	G	10	10	TRPM6	G	4	4
TRPM6	140803	broad.mit.edu	36	9	76608528	76608528	+	Splice_Site_SNP	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:76608528A>G	uc004ajl.1	-	c.1731_splice	c.e15+1	p.K577_splice	TRPM6_uc004ajk.1_Splice_Site_SNP_p.K572_splice|TRPM6_uc010mpb.1_Splice_Site_SNP|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_5'Flank	NM_017662	NP_060132			transient receptor potential cation channel,						protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.179551	177.606697	216.296732	72	329	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	76608528	76608528	17141	9	A	G	G	14	14	TRPM6	G	5	4
TRPM6	140803	broad.mit.edu	36	9	76612888	76612888	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:76612888C>T	uc004ajl.1	-	c.1520G>A	c.(1519-1521)CGA>CAA	p.R507Q	TRPM6_uc004ajk.1_Missense_Mutation_p.R502Q|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R507Q|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	507	Cytoplasmic (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.232283	129.694701	146.369343	59	195	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76612888	76612888	17141	9	C	T	T	31	31	TRPM6	T	1	1
TRPM6	140803	broad.mit.edu	36	9	76644808	76644808	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:76644808C>T	uc004ajl.1	-	c.496G>A	c.(496-498)GCT>ACT	p.A166T	TRPM6_uc004ajk.1_Missense_Mutation_p.A161T|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.A166T|TRPM6_uc010mpd.1_Missense_Mutation_p.A166T|TRPM6_uc010mpe.1_Missense_Mutation_p.A166T|TRPM6_uc004ajn.1_Missense_Mutation_p.A166T	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	166	Cytoplasmic (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.222222	115.964719	132.584952	52	182	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76644808	76644808	17141	9	C	T	T	28	28	TRPM6	T	2	2
C9orf95	54981	broad.mit.edu	36	9	76882231	76882231	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:76882231A>C	uc004aju.1	-	c.115T>G	c.(115-117)TTC>GTC	p.F39V	C9orf95_uc004ajs.2_Missense_Mutation_p.F43V|C9orf95_uc004ajr.2_Missense_Mutation_p.F39V|C9orf95_uc004ajt.2_Missense_Mutation_p.F39V	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1 isoform 1	39					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity				0														0.186667	64.51004	78.306084	28	122	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76882231	76882231	2623	9	A	C	C	3	3	C9orf95	C	4	4
OSTF1	26578	broad.mit.edu	36	9	76951428	76951428	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:76951428G>A	uc004ajx.2	+	c.605G>A	c.(604-606)CGA>CAA	p.R202Q	OSTF1_uc004ajv.2_Missense_Mutation_p.R199Q|OSTF1_uc004ajw.2_Missense_Mutation_p.R156Q	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	199					ossification|signal transduction	cytoplasm	identical protein binding				0														0.216216	69.039404	80.022595	32	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76951428	76951428	11709	9	G	A	A	37	37	OSTF1	A	1	1
RFK	55312	broad.mit.edu	36	9	78193295	78193295	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:78193295G>T	uc004akd.2	-	c.353C>A	c.(352-354)TCT>TAT	p.S118Y	RFK_uc004ake.2_Missense_Mutation_p.S111Y	NM_018339	NP_060809	Q969G6	RIFK_HUMAN	riboflavin kinase	111					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity				0					Riboflavin(DB00140)									0.251497	92.455827	101.837071	42	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78193295	78193295	13722	9	G	T	T	33	33	RFK	T	3	3
PRUNE2	158471	broad.mit.edu	36	9	78510656	78510656	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:78510656C>A	uc010mpk.1	-	c.6354G>T	c.(6352-6354)GAG>GAT	p.E2118D	PRUNE2_uc004akj.2_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2118					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.692521	726.549403	738.440539	250	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78510656	78510656	13092	9	C	A	A	32	32	PRUNE2	A	3	3
PRUNE2	158471	broad.mit.edu	36	9	78631337	78631337	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:78631337C>T	uc010mpk.1	-	c.640G>A	c.(640-642)GAG>AAG	p.E214K	PRUNE2_uc004akn.1_Missense_Mutation_p.E214K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	214					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.204651	187.540655	222.36179	88	342	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78631337	78631337	13092	9	C	T	T	30	30	PRUNE2	T	2	2
PRUNE2	158471	broad.mit.edu	36	9	78651337	78651337	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:78651337C>T	uc010mpk.1	-	c.422G>A	c.(421-423)CGA>CAA	p.R141Q	PRUNE2_uc004akn.1_Missense_Mutation_p.R141Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	141					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.242938	97.834069	108.500885	43	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78651337	78651337	13092	9	C	T	T	31	31	PRUNE2	T	1	1
VPS13A	23230	broad.mit.edu	36	9	79032987	79032987	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:79032987G>A	uc004akr.1	+	c.1582G>A	c.(1582-1584)GCA>ACA	p.A528T	VPS13A_uc004akp.2_Missense_Mutation_p.A528T|VPS13A_uc004akq.2_Missense_Mutation_p.A528T|VPS13A_uc004aks.1_Missense_Mutation_p.A528T	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	528					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7														0.265306	31.750912	34.191502	13	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79032987	79032987	17756	9	G	A	A	34	34	VPS13A	A	2	2
VPS13A	23230	broad.mit.edu	36	9	79042756	79042756	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:79042756T>C	uc004akr.1	+	c.1614T>C	c.(1612-1614)GAT>GAC	p.D538D	VPS13A_uc004akp.2_Silent_p.D538D|VPS13A_uc004akq.2_Silent_p.D538D|VPS13A_uc004aks.1_Silent_p.D538D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	538	TPR 3.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7														0.265957	138.177356	147.473378	50	138	TT		KEEP	---	---	---	---	capture			Silent	SNP	79042756	79042756	17756	9	T	C	C	52	52	VPS13A	C	4	4
VPS13A	23230	broad.mit.edu	36	9	79100573	79100573	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:79100573G>T	uc004akr.1	+	c.3803G>T	c.(3802-3804)CGA>CTA	p.R1268L	VPS13A_uc004akp.2_Missense_Mutation_p.R1268L|VPS13A_uc004akq.2_Missense_Mutation_p.R1268L|VPS13A_uc004aks.1_Missense_Mutation_p.R1229L|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1268	TPR 4.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7														0.160256	38.164817	55.327354	25	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79100573	79100573	17756	9	G	T	T	37	37	VPS13A	T	3	3
CEP78	84131	broad.mit.edu	36	9	80056752	80056752	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:80056752G>A	uc004aky.2	+	c.1181G>A	c.(1180-1182)CGT>CAT	p.R394H	CEP78_uc004akx.2_Missense_Mutation_p.R393H|CEP78_uc010mpp.1_Missense_Mutation_p.R394H	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform a	393					G2/M transition of mitotic cell cycle	cytosol|microtubule organizing center				ovary(1)	1														0.2	19.320282	23.507666	10	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80056752	80056752	3395	9	G	A	A	40	40	CEP78	A	1	1
TLE4	7091	broad.mit.edu	36	9	81524935	81524935	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:81524935C>T	uc004ald.1	+	c.1820C>T	c.(1819-1821)GCC>GTC	p.A607V	TLE4_uc004alc.1_Missense_Mutation_p.A582V|TLE4_uc004ale.1_Missense_Mutation_p.A219V|TLE4_uc010mpr.1_Missense_Mutation_p.A461V|TLE4_uc010mps.1_Missense_Mutation_p.A506V|TLE4_uc004alf.1_Missense_Mutation_p.A521V	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										ovary(1)	1														0.642276	232.937881	235.128429	79	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81524935	81524935	16471	9	C	T	T	26	26	TLE4	T	2	2
TLE1	7088	broad.mit.edu	36	9	83392430	83392430	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:83392430C>T	uc004alz.1	-	c.1993G>A	c.(1993-1995)GAC>AAC	p.D665N	TLE1_uc004aly.1_Missense_Mutation_p.D655N	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	655					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)	1						NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)				350				0.464789	89.606989	89.678423	33	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83392430	83392430	16468	9	C	T	T	31	31	TLE1	T	1	1
TLE1	7088	broad.mit.edu	36	9	83392525	83392525	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:83392525T>C	uc004alz.1	-	c.1898A>G	c.(1897-1899)GAC>GGC	p.D633G	TLE1_uc004aly.1_Missense_Mutation_p.D623G	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	623	WD 4.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)	1						NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)				350				0.76699	287.081158	293.807179	79	24	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83392525	83392525	16468	9	T	C	C	58	58	TLE1	C	4	4
TLE1	7088	broad.mit.edu	36	9	83395788	83395788	+	Splice_Site_SNP	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:83395788C>A	uc004alz.1	-	c.1612_splice	c.e16-1	p.N538_splice	TLE1_uc004aly.1_Splice_Site_SNP_p.N528_splice|TLE1_uc004ama.1_Intron	NM_005077	NP_005068			transducin-like enhancer protein 1						negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)	1						NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)				350				0.239496	121.253269	136.00484	57	181	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	83395788	83395788	16468	9	C	A	A	32	32	TLE1	A	5	3
TLE1	7088	broad.mit.edu	36	9	83425196	83425196	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:83425196C>T	uc004alz.1	-	c.721G>A	c.(721-723)GAT>AAT	p.D241N	TLE1_uc004aly.1_Missense_Mutation_p.D231N|TLE1_uc004ama.1_Missense_Mutation_p.D231N	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	231	CCN domain.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)	1						NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)				350				0.246377	73.497737	81.570958	34	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83425196	83425196	16468	9	C	T	T	29	29	TLE1	T	2	2
PTPRD	5789	broad.mit.edu	36	9	8490769	8490769	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:8490769G>A	uc003zkk.1	-	c.2113C>T	c.(2113-2115)CGA>TGA	p.R705*	PTPRD_uc003zkp.1_Intron|PTPRD_uc003zkq.1_Intron|PTPRD_uc003zkr.1_Intron|PTPRD_uc003zks.1_Intron|PTPRD_uc003zkl.1_Nonsense_Mutation_p.R705*|PTPRD_uc003zkm.1_Nonsense_Mutation_p.R692*|PTPRD_uc003zko.1_Intron|PTPRD_uc003zkn.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	705	Fibronectin type-III 4.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		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)							p.R705*(JHUEM7-Tumor)	1253	TSP Lung(15;0.13)			0.198777	129.300947	156.910182	65	262	GG		KEEP	---	---	---	---	capture		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)	Nonsense_Mutation	SNP	8490769	8490769	13256	9	G	A	A	37	37	PTPRD	A	5	1
PTPRD	5789	broad.mit.edu	36	9	8491014	8491014	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:8491014G>A	uc003zkk.1	-	c.1868C>T	c.(1867-1869)TCC>TTC	p.S623F	PTPRD_uc003zkp.1_Intron|PTPRD_uc003zkq.1_Intron|PTPRD_uc003zkr.1_Intron|PTPRD_uc003zks.1_Intron|PTPRD_uc003zkl.1_Missense_Mutation_p.S623F|PTPRD_uc003zkm.1_Missense_Mutation_p.S610F|PTPRD_uc003zko.1_Intron|PTPRD_uc003zkn.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	623	Fibronectin type-III 4.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		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)							p.S623F(HCT15-Tumor)	1253	TSP Lung(15;0.13)			0.184358	62.959946	79.698583	33	146	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	8491014	8491014	13256	9	G	A	A	41	41	PTPRD	A	2	2
PTPRD	5789	broad.mit.edu	36	9	8508099	8508099	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:8508099G>A	uc003zkk.1	-	c.1292C>T	c.(1291-1293)TCG>TTG	p.S431L	PTPRD_uc003zkp.1_Missense_Mutation_p.S431L|PTPRD_uc003zkq.1_Missense_Mutation_p.S431L|PTPRD_uc003zkr.1_Missense_Mutation_p.S425L|PTPRD_uc003zks.1_Missense_Mutation_p.S421L|PTPRD_uc003zkl.1_Missense_Mutation_p.S431L|PTPRD_uc003zkm.1_Missense_Mutation_p.S418L|PTPRD_uc003zko.1_Missense_Mutation_p.S428L|PTPRD_uc003zkn.1_Missense_Mutation_p.S431L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	431	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(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		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)							p.S431L(SNU1040-Tumor)	1253	TSP Lung(15;0.13)			0.185547	172.299457	219.716373	95	417	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	8508099	8508099	13256	9	G	A	A	37	37	PTPRD	A	1	1
PTPRD	5789	broad.mit.edu	36	9	8511415	8511415	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:8511415C>A	uc003zkk.1	-	c.823G>T	c.(823-825)GAT>TAT	p.D275Y	PTPRD_uc003zkp.1_Missense_Mutation_p.D275Y|PTPRD_uc003zkq.1_Missense_Mutation_p.D275Y|PTPRD_uc003zkr.1_Missense_Mutation_p.D269Y|PTPRD_uc003zks.1_Missense_Mutation_p.D265Y|PTPRD_uc003zkl.1_Missense_Mutation_p.D275Y|PTPRD_uc003zkm.1_Missense_Mutation_p.D262Y|PTPRD_uc003zko.1_Missense_Mutation_p.D272Y|PTPRD_uc003zkn.1_Missense_Mutation_p.D275Y	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	275	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		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)								1253	TSP Lung(15;0.13)			0.312715	209.361414	218.481826	91	200	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	8511415	8511415	13256	9	C	A	A	32	32	PTPRD	A	3	3
FRMD3	257019	broad.mit.edu	36	9	85116636	85116636	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:85116636G>A	uc004ams.1	-	c.759C>T	c.(757-759)ATC>ATT	p.I253I	FRMD3_uc004amr.1_Silent_p.I239I	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	253	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2														0.142857	29.501146	46.715355	20	120	GG		KEEP	---	---	---	---	capture			Silent	SNP	85116636	85116636	6300	9	G	A	A	41	41	FRMD3	A	2	2
KIF27	55582	broad.mit.edu	36	9	85672490	85672490	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:85672490T>C	uc004ana.1	-	c.2863A>G	c.(2863-2865)ATA>GTA	p.I955V	KIF27_uc010mpw.1_Missense_Mutation_p.I889V|KIF27_uc010mpx.1_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	955	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.211207	114.459919	132.345995	49	183	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85672490	85672490	8607	9	T	C	C	51	51	KIF27	C	4	4
KIF27	55582	broad.mit.edu	36	9	85708169	85708169	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:85708169C>T	uc004ana.1	-	c.1084G>A	c.(1084-1086)GAG>AAG	p.E362K	KIF27_uc010mpw.1_Missense_Mutation_p.E362K|KIF27_uc010mpx.1_Missense_Mutation_p.E362K	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	362	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.175573	114.300822	153.350999	69	324	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85708169	85708169	8607	9	C	T	T	29	29	KIF27	T	2	2
KIF27	55582	broad.mit.edu	36	9	85713231	85713231	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:85713231G>T	uc004ana.1	-	c.455C>A	c.(454-456)TCC>TAC	p.S152Y	KIF27_uc010mpw.1_Missense_Mutation_p.S152Y|KIF27_uc010mpx.1_Missense_Mutation_p.S152Y	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	152	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.467925	343.814664	344.046689	124	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85713231	85713231	8607	9	G	T	T	41	41	KIF27	T	3	3
HNRNPK	3190	broad.mit.edu	36	9	85776656	85776656	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:85776656C>T	uc004anf.2	-	c.914G>A	c.(913-915)CGG>CAG	p.R305Q	HNRNPK_uc004and.2_Missense_Mutation_p.R65Q|HNRNPK_uc004ane.2_Missense_Mutation_p.R65Q|HNRNPK_uc004ank.2_Missense_Mutation_p.R305Q|HNRNPK_uc004ang.2_Missense_Mutation_p.R305Q|HNRNPK_uc004anh.2_Missense_Mutation_p.R281Q|HNRNPK_uc004ani.2_Missense_Mutation_p.R305Q|HNRNPK_uc004anj.2_Missense_Mutation_p.R305Q|HNRNPK_uc004anl.2_Missense_Mutation_p.R305Q|HNRNPK_uc004anm.2_Missense_Mutation_p.R305Q|HNRNPK_uc004ann.2_Missense_Mutation_p.R281Q|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031263	NP_112553	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	305	5 X 4 AA repeats of G-X-G-G.|2 X 6 AA approximate repeats.|2 X 22 AA approximate repeats.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|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|single-stranded DNA binding			skin(1)	1														0.658879	435.898724	440.66798	141	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85776656	85776656	7561	9	C	T	T	23	23	HNRNPK	T	1	1
NTRK2	4915	broad.mit.edu	36	9	86532678	86532678	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:86532678G>A	uc004anz.1	+	c.1143G>A	c.(1141-1143)TGG>TGA	p.W381*	NTRK2_uc004anv.1_Nonsense_Mutation_p.W368*|NTRK2_uc004anw.1_Nonsense_Mutation_p.W381*|NTRK2_uc004anx.1_Nonsense_Mutation_p.W381*|NTRK2_uc004any.1_Nonsense_Mutation_p.W381*|NTRK2_uc004aoa.1_Nonsense_Mutation_p.W381*|NTRK2_uc004aob.1_Nonsense_Mutation_p.W381*	NM_006180	NP_006171	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	381	Extracellular (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(1)|liver(1)|central_nervous_system(1)|skin(1)	12										348	TSP Lung(25;0.17)			0.216667	53.677628	62.570557	26	94	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	86532678	86532678	11112	9	G	A	A	42	42	NTRK2	A	5	2
AGTPBP1	23287	broad.mit.edu	36	9	87394365	87394365	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:87394365G>A	uc010mqc.1	-	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W	AGTPBP1_uc004aod.2_Missense_Mutation_p.R500W|AGTPBP1_uc004aoe.2_Missense_Mutation_p.R816W	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	874					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)	6														0.153226	30.440079	44.70927	19	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87394365	87394365	403	9	G	A	A	37	37	AGTPBP1	A	1	1
AGTPBP1	23287	broad.mit.edu	36	9	87425997	87425997	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:87425997T>G	uc010mqc.1	-	c.1919A>C	c.(1918-1920)GAA>GCA	p.E640A	AGTPBP1_uc004aod.2_Missense_Mutation_p.E306A|AGTPBP1_uc004aoe.2_Missense_Mutation_p.E622A	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	680					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)	6														0.251701	108.113597	116.339251	37	110	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87425997	87425997	403	9	T	G	G	62	62	AGTPBP1	G	4	4
NAA35	60560	broad.mit.edu	36	9	87821397	87821397	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:87821397G>T	uc004aoi.2	+	c.1692G>T	c.(1690-1692)AAG>AAT	p.K564N	NAA35_uc004aoj.2_Missense_Mutation_p.K564N	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	corneal wound healing-related protein	564					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)	1														0.684211	185.326012	188.169856	65	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87821397	87821397	10518	9	G	T	T	33	33	NAA35	T	3	3
GOLM1	51280	broad.mit.edu	36	9	87840161	87840161	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:87840161C>T	uc004aol.1	-	c.957G>A	c.(955-957)GAG>GAA	p.E319E	GOLM1_uc004aom.1_Silent_p.E319E	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	319	Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0												OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.237013	155.57228	175.022598	73	235	CC		KEEP	---	---	---	---	capture			Silent	SNP	87840161	87840161	6840	9	C	T	T	28	28	GOLM1	T	2	2
GOLM1	51280	broad.mit.edu	36	9	87845553	87845553	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:87845553C>T	uc004aol.1	-	c.518G>A	c.(517-519)CGA>CAA	p.R173Q	GOLM1_uc010mqd.1_Non-coding_Transcript|GOLM1_uc004aom.1_Missense_Mutation_p.R173Q	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	173	Potential.|Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0														0.658654	418.416571	423.044765	137	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87845553	87845553	6840	9	C	T	T	31	31	GOLM1	T	1	1
GOLM1	51280	broad.mit.edu	36	9	87882255	87882255	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:87882255C>A	uc004aol.1	-	c.201G>T	c.(199-201)AAG>AAT	p.K67N	GOLM1_uc010mqd.1_Non-coding_Transcript|GOLM1_uc004aom.1_Missense_Mutation_p.K67N	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	67	Potential.|Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0														0.20438	99.793359	122.085984	56	218	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87882255	87882255	6840	9	C	A	A	32	32	GOLM1	A	3	3
ZCCHC6	79670	broad.mit.edu	36	9	88115470	88115470	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:88115470C>A	uc004aoq.1	-	c.3349G>T	c.(3349-3351)GAA>TAA	p.E1117*	ZCCHC6_uc010mqe.1_Nonsense_Mutation_p.E55*|ZCCHC6_uc004aor.1_Non-coding_Transcript|ZCCHC6_uc004aos.1_Non-coding_Transcript|ZCCHC6_uc004aot.1_Nonsense_Mutation_p.E881*|ZCCHC6_uc004aou.1_Nonsense_Mutation_p.E1117*	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1117					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2														0.1875	42.014931	53.732508	24	104	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	88115470	88115470	18180	9	C	A	A	30	30	ZCCHC6	A	5	3
ZCCHC6	79670	broad.mit.edu	36	9	88127147	88127147	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:88127147C>A	uc004aoq.1	-	c.2941G>T	c.(2941-2943)GAC>TAC	p.D981Y	ZCCHC6_uc010mqe.1_5'Flank|ZCCHC6_uc004aor.1_Non-coding_Transcript|ZCCHC6_uc004aos.1_Non-coding_Transcript|ZCCHC6_uc004aot.1_Intron|ZCCHC6_uc004aou.1_Missense_Mutation_p.D981Y	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	981					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2														0.154696	39.471699	60.113279	28	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88127147	88127147	18180	9	C	A	A	32	32	ZCCHC6	A	3	3
DAPK1	1612	broad.mit.edu	36	9	89303835	89303835	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:89303835A>G	uc004apc.1	+	c.23A>G	c.(22-24)AAC>AGC	p.N8S	DAPK1_uc004apd.1_Missense_Mutation_p.N8S	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	8					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade|protein phosphorylation	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2										862				0.632353	303.683335	305.778886	86	50	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89303835	89303835	4402	9	A	G	G	2	2	DAPK1	G	4	4
DAPK1	1612	broad.mit.edu	36	9	89409700	89409700	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:89409700C>T	uc004apc.1	+	c.74C>T	c.(73-75)GCG>GTG	p.A25V	DAPK1_uc004apd.1_Missense_Mutation_p.A25V	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	25	ATP.|Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade|protein phosphorylation	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2										862				0.204082	17.721537	21.707592	10	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89409700	89409700	4402	9	C	T	T	27	27	DAPK1	T	1	1
DAPK1	1612	broad.mit.edu	36	9	89456296	89456296	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:89456296G>A	uc004apc.1	+	c.1661G>A	c.(1660-1662)CGG>CAG	p.R554Q	DAPK1_uc004apd.1_Missense_Mutation_p.R554Q|DAPK1_uc004apf.1_Missense_Mutation_p.R108Q	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	554	ANK 6.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade|protein phosphorylation	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2										862				0.257732	123.155393	133.479628	50	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89456296	89456296	4402	9	G	A	A	39	39	DAPK1	A	1	1
DAPK1	1612	broad.mit.edu	36	9	89462819	89462819	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:89462819G>A	uc004apc.1	+	c.1880G>A	c.(1879-1881)CGG>CAG	p.R627Q	DAPK1_uc004apd.1_Missense_Mutation_p.R627Q|DAPK1_uc004apf.1_Missense_Mutation_p.R181Q	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	627	ANK 8.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade|protein phosphorylation	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2									p.R627Q(OC316-Tumor)	862				0.238095	24.228714	26.860634	10	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89462819	89462819	4402	9	G	A	A	39	39	DAPK1	A	1	1
DAPK1	1612	broad.mit.edu	36	9	89473405	89473405	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:89473405G>A	uc004apc.1	+	c.1997G>A	c.(1996-1998)CGA>CAA	p.R666Q	DAPK1_uc004apd.1_Missense_Mutation_p.R666Q|DAPK1_uc004apf.1_Missense_Mutation_p.R220Q	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	666					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade|protein phosphorylation	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2										862				0.192118	148.876702	184.878259	78	328	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89473405	89473405	4402	9	G	A	A	37	37	DAPK1	A	1	1
DAPK1	1612	broad.mit.edu	36	9	89501750	89501750	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:89501750G>A	uc004apc.1	+	c.2422G>A	c.(2422-2424)GAT>AAT	p.D808N	DAPK1_uc004apd.1_Missense_Mutation_p.D808N	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	808					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade|protein phosphorylation	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2										862				0.212815	198.936035	232.245024	93	344	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89501750	89501750	4402	9	G	A	A	37	37	DAPK1	A	1	1
C9orf79	286234	broad.mit.edu	36	9	89691234	89691234	+	Missense_Mutation	SNP	C	T	T	rs36079890	by-cluster,by-frequency	TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:89691234C>T	uc004app.2	+	c.2012C>T	c.(2011-2013)ACG>ATG	p.T671M	C9orf79_uc004apo.1_Missense_Mutation_p.T483M	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	671						integral to membrane				ovary(3)	3														0.254658	87.717115	96.50231	41	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89691234	89691234	2613	9	C	T	T	19	19	C9orf79	T	1	1
SECISBP2	79048	broad.mit.edu	36	9	91154528	91154528	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:91154528G>A	uc004aqj.1	+	c.1756G>A	c.(1756-1758)GAA>AAA	p.E586K	SECISBP2_uc004aqk.1_Missense_Mutation_p.E513K|SECISBP2_uc010mqo.1_Missense_Mutation_p.E291K	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	586					translation	nucleus	mRNA 3'-UTR binding			ovary(2)	2														0.257732	175.135664	190.587325	75	216	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91154528	91154528	14492	9	G	A	A	37	37	SECISBP2	A	1	1
SEMA4D	10507	broad.mit.edu	36	9	91197182	91197182	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:91197182C>A	uc004aqo.1	-	c.598G>T	c.(598-600)GAA>TAA	p.E200*	SEMA4D_uc004aqp.1_Nonsense_Mutation_p.E200*	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	200	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														0.239044	127.051832	142.679623	60	191	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	91197182	91197182	14520	9	C	A	A	32	32	SEMA4D	A	5	3
DIRAS2	54769	broad.mit.edu	36	9	92415552	92415552	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:92415552G>A	uc004aqx.1	-	c.378C>T	c.(376-378)AGC>AGT	p.S126S	DIRAS2_uc010mqp.1_Silent_p.S126S	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	126					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0														0.186869	58.221649	76.488301	37	161	GG		KEEP	---	---	---	---	capture			Silent	SNP	92415552	92415552	4710	9	G	A	A	42	42	DIRAS2	A	2	2
SYK	6850	broad.mit.edu	36	9	92646208	92646208	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:92646208G>A	uc004aqz.1	+	c.207G>A	c.(205-207)GAG>GAA	p.E69E	SYK_uc004aqy.1_Silent_p.E69E|SYK_uc004ara.1_Silent_p.E69E|SYK_uc004arb.1_Silent_p.E69E|SYK_uc004arc.1_Silent_p.E69E	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	69	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(1)|skin(1)	2										618				0.189189	27.103836	33.802626	14	60	GG		KEEP	---	---	---	---	capture			Silent	SNP	92646208	92646208	15959	9	G	A	A	34	34	SYK	A	2	2
SYK	6850	broad.mit.edu	36	9	92689857	92689857	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:92689857G>T	uc004aqz.1	+	c.1587G>T	c.(1585-1587)CAG>CAT	p.Q529H	SYK_uc004ara.1_Missense_Mutation_p.Q506H|SYK_uc004arb.1_Missense_Mutation_p.Q506H|SYK_uc004arc.1_Missense_Mutation_p.Q529H	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	529	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(1)|skin(1)	2										618				0.17233	115.837423	157.673691	71	341	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92689857	92689857	15959	9	G	T	T	33	33	SYK	T	3	3
SYK	6850	broad.mit.edu	36	9	92697668	92697668	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:92697668C>T	uc004aqz.1	+	c.1873C>T	c.(1873-1875)CGG>TGG	p.R625W	SYK_uc004ara.1_Missense_Mutation_p.R602W|SYK_uc004arb.1_Missense_Mutation_p.R602W|SYK_uc004arc.1_Missense_Mutation_p.R625W	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	625	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(1)|skin(1)	2										618		OREG0019297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.6	236.984502	238.163347	81	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92697668	92697668	15959	9	C	T	T	27	27	SYK	T	1	1
NFIL3	4783	broad.mit.edu	36	9	93211749	93211749	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:93211749G>A	uc004arh.1	-	c.1089C>T	c.(1087-1089)TTC>TTT	p.F363F	NFIL3_uc010mqq.1_Silent_p.F363F	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	363	Necessary for transcriptional repression and sufficient for interaction with DR1.				circadian rhythm|immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity				0						Esophageal Squamous(152;732 1832 10053 26981 51762)								0.239905	228.663391	254.664851	101	320	GG		KEEP	---	---	---	---	capture			Silent	SNP	93211749	93211749	10773	9	G	A	A	37	37	NFIL3	A	1	1
ROR2	4920	broad.mit.edu	36	9	93526627	93526627	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:93526627C>T	uc004arj.1	-	c.1970G>A	c.(1969-1971)CGC>CAC	p.R657H	ROR2_uc004ari.1_Missense_Mutation_p.R517H	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	657	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(6)|central_nervous_system(5)|ovary(3)|large_intestine(2)	16										461				0.20202	38.66181	46.81813	20	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93526627	93526627	14006	9	C	T	T	27	27	ROR2	T	1	1
ROR2	4920	broad.mit.edu	36	9	93528744	93528744	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:93528744C>T	uc004arj.1	-	c.1286G>A	c.(1285-1287)CGG>CAG	p.R429Q	ROR2_uc004ari.1_Missense_Mutation_p.R289Q|ROR2_uc004ark.2_Missense_Mutation_p.G418R	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	429	Cytoplasmic (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(6)|central_nervous_system(5)|ovary(3)|large_intestine(2)	16										461				0.213333	70.053568	81.417483	32	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93528744	93528744	14006	9	C	T	T	23	23	ROR2	T	1	1
ROR2	4920	broad.mit.edu	36	9	93535460	93535460	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:93535460G>A	uc004arj.1	-	c.702C>T	c.(700-702)TTC>TTT	p.F234F	ROR2_uc004ari.1_Silent_p.F94F|ROR2_uc004ark.2_Silent_p.F234F	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	234	FZ.|Extracellular (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(6)|central_nervous_system(5)|ovary(3)|large_intestine(2)	16										461				0.170213	12.369284	17.209052	8	39	GG		KEEP	---	---	---	---	capture			Silent	SNP	93535460	93535460	14006	9	G	A	A	37	37	ROR2	A	1	1
SPTLC1	10558	broad.mit.edu	36	9	93834624	93834624	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:93834624C>A	uc004arl.1	-	c.1366G>T	c.(1366-1368)GAA>TAA	p.E456*		NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	456	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.219298	96.307454	112.88139	50	178	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93834624	93834624	15637	9	C	A	A	32	32	SPTLC1	A	5	3
SPTLC1	10558	broad.mit.edu	36	9	93836938	93836938	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:93836938C>A	uc004arl.1	-	c.1303G>T	c.(1303-1305)GAA>TAA	p.E435*		NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	435	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.204819	129.598091	156.458285	68	264	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93836938	93836938	15637	9	C	A	A	32	32	SPTLC1	A	5	3
SPTLC1	10558	broad.mit.edu	36	9	93849355	93849355	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:93849355C>T	uc004arl.1	-	c.1001G>A	c.(1000-1002)GGA>GAA	p.G334E		NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	334	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.193939	64.106822	78.529112	32	133	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93849355	93849355	15637	9	C	T	T	30	30	SPTLC1	T	2	2
IARS	3376	broad.mit.edu	36	9	94012918	94012918	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94012918C>A	uc004art.1	-	c.3781G>T	c.(3781-3783)GAC>TAC	p.D1261Y	IARS_uc004arr.1_Non-coding_Transcript|IARS_uc004ars.1_Missense_Mutation_p.D1054Y|IARS_uc004aru.2_Missense_Mutation_p.D1261Y|IARS_uc010mqr.1_Missense_Mutation_p.D1151Y|IARS_uc010mqs.1_Missense_Mutation_p.D1261Y	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1261					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.182741	60.253378	78.911995	36	161	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94012918	94012918	7773	9	C	A	A	32	32	IARS	A	3	3
IARS	3376	broad.mit.edu	36	9	94076535	94076535	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94076535G>A	uc004art.1	-	c.984C>T	c.(982-984)TTC>TTT	p.F328F	IARS_uc004ars.1_Silent_p.F173F|IARS_uc004aru.2_Silent_p.F328F|IARS_uc010mqr.1_Silent_p.F218F|IARS_uc010mqs.1_Silent_p.F328F|IARS_uc010mqt.1_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	328					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.452991	294.942546	295.38829	106	128	GG		KEEP	---	---	---	---	capture			Silent	SNP	94076535	94076535	7773	9	G	A	A	37	37	IARS	A	1	1
IARS	3376	broad.mit.edu	36	9	94089965	94089965	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94089965C>T	uc004art.1	-	c.325G>A	c.(325-327)GCC>ACC	p.A109T	IARS_uc004ars.1_5'UTR|IARS_uc004aru.2_Missense_Mutation_p.A109T|IARS_uc010mqr.1_5'UTR|IARS_uc010mqs.1_Missense_Mutation_p.A109T|IARS_uc010mqt.1_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	109					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.702041	539.065638	547.995474	172	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94089965	94089965	7773	9	C	T	T	26	26	IARS	T	2	2
NOL8	55035	broad.mit.edu	36	9	94116494	94116494	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94116494G>A	uc004arv.1	-	c.2234C>T	c.(2233-2235)TCG>TTG	p.S745L	NOL8_uc010mqw.1_Non-coding_Transcript|NOL8_uc004arw.1_Intron	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	745					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1														0.237705	64.812173	72.483081	29	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94116494	94116494	10930	9	G	A	A	37	37	NOL8	A	1	1
NOL8	55035	broad.mit.edu	36	9	94117032	94117032	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94117032A>C	uc004arv.1	-	c.1696T>G	c.(1696-1698)TTA>GTA	p.L566V	NOL8_uc010mqw.1_Non-coding_Transcript|NOL8_uc004arw.1_Intron	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	566					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1														0.683761	277.240551	280.754353	80	37	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94117032	94117032	10930	9	A	C	C	1	1	NOL8	C	4	4
OMD	4958	broad.mit.edu	36	9	94219526	94219526	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94219526G>A	uc004asd.2	-	c.136C>T	c.(136-138)CGT>TGT	p.R46C	CENPP_uc004arz.1_Intron|CENPP_uc010mqx.1_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	osteomodulin	46					cell adhesion	proteinaceous extracellular matrix				ovary(2)	2										29				0.655172	402.609282	406.920923	133	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94219526	94219526	11270	9	G	A	A	37	37	OMD	A	1	1
ASPN	54829	broad.mit.edu	36	9	94261839	94261839	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94261839C>T	uc004ase.1	-	c.841G>A	c.(841-843)GAA>AAA	p.E281K	CENPP_uc004arz.1_Intron|CENPP_uc010mqx.1_Intron|ASPN_uc010mqy.1_Intron	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	281	LRR 7.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0														0.411215	122.878116	123.61514	44	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94261839	94261839	1076	9	C	T	T	31	31	ASPN	T	1	1
ECM2	1842	broad.mit.edu	36	9	94312056	94312056	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94312056C>A	uc004ash.1	-	c.1252G>T	c.(1252-1254)GAA>TAA	p.E418*	CENPP_uc004arz.1_Intron|CENPP_uc010mqx.1_Intron|ECM2_uc004asf.2_Nonsense_Mutation_p.E396*|ECM2_uc004asg.1_Nonsense_Mutation_p.E396*	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	418	LRR 3.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2														0.235714	67.990113	76.944816	33	107	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	94312056	94312056	5085	9	C	A	A	32	32	ECM2	A	5	3
ECM2	1842	broad.mit.edu	36	9	94314139	94314139	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94314139G>A	uc004ash.1	-	c.1145C>T	c.(1144-1146)TCA>TTA	p.S382L	CENPP_uc004arz.1_Intron|CENPP_uc010mqx.1_Intron|ECM2_uc004asf.2_Missense_Mutation_p.S360L|ECM2_uc004asg.1_Missense_Mutation_p.S360L	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	382	LRR 1.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2														0.193548	65.675623	81.996505	36	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94314139	94314139	5085	9	G	A	A	45	45	ECM2	A	2	2
ECM2	1842	broad.mit.edu	36	9	94316887	94316887	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94316887G>A	uc004ash.1	-	c.901C>T	c.(901-903)CCC>TCC	p.P301S	CENPP_uc004arz.1_Intron|CENPP_uc010mqx.1_Intron|ECM2_uc004asf.2_Missense_Mutation_p.P279S|ECM2_uc004asg.1_Missense_Mutation_p.P279S	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	301					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2														0.19375	57.553294	71.554233	31	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94316887	94316887	5085	9	G	A	A	42	42	ECM2	A	2	2
ECM2	1842	broad.mit.edu	36	9	94317127	94317127	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94317127C>A	uc004ash.1	-	c.661G>T	c.(661-663)GAA>TAA	p.E221*	CENPP_uc004arz.1_Intron|CENPP_uc010mqx.1_Intron|ECM2_uc004asf.2_Nonsense_Mutation_p.E199*|ECM2_uc004asg.1_Nonsense_Mutation_p.E199*	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	221					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2														0.613712	1057.149944	1063.903903	367	231	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	94317127	94317127	5085	9	C	A	A	32	32	ECM2	A	5	3
FGD3	89846	broad.mit.edu	36	9	94836721	94836721	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94836721C>T	uc004asw.2	+	c.1863C>T	c.(1861-1863)AGC>AGT	p.S621S	FGD3_uc004asx.2_Silent_p.S620S|FGD3_uc004asz.2_Silent_p.S621S	NM_001083536	NP_149077	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	621	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(1)|breast(1)	2														0.427632	170.046536	170.739303	65	87	CC		KEEP	---	---	---	---	capture			Silent	SNP	94836721	94836721	6071	9	C	T	T	27	27	FGD3	T	1	1
NINJ1	4814	broad.mit.edu	36	9	94928520	94928520	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94928520G>A	uc004atg.2	-	c.297C>T	c.(295-297)ATC>ATT	p.I99I	NINJ1_uc004ath.2_Silent_p.I49I	NM_004148	NP_004139	Q92982	NINJ1_HUMAN	ninjurin 1	99	Helical; (Potential).				cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)	1														0.556962	141.90732	142.13035	44	35	GG		KEEP	---	---	---	---	capture			Silent	SNP	94928520	94928520	10819	9	G	A	A	33	33	NINJ1	A	2	2
WNK2	65268	broad.mit.edu	36	9	95040369	95040369	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:95040369G>A	uc004ati.1	+	c.1267G>A	c.(1267-1269)GAT>AAT	p.D423N	WNK2_uc010mrc.1_Missense_Mutation_p.D423N|WNK2_uc004atj.1_Missense_Mutation_p.D423N|WNK2_uc010mrd.1_Missense_Mutation_p.D60N|WNK2_uc004atk.2_Missense_Mutation_p.D60N	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	423	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|large_intestine(1)|central_nervous_system(1)	7										1420				0.604938	147.484211	148.263662	49	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95040369	95040369	17952	9	G	A	A	37	37	WNK2	A	1	1
FAM120A	23196	broad.mit.edu	36	9	95358572	95358572	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:95358572G>A	uc004atw.1	+	c.2362G>A	c.(2362-2364)GGA>AGA	p.G788R	FAM120A_uc004aty.1_Missense_Mutation_p.G569R|FAM120A_uc004atz.1_Missense_Mutation_p.G437R|FAM120A_uc010mrg.1_Missense_Mutation_p.G101R	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	hypothetical protein LOC23196	788						cytoplasm|plasma membrane	RNA binding				0														0.691824	1038.268321	1053.900142	330	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95358572	95358572	5612	9	G	A	A	39	39	FAM120A	A	1	1
PTPDC1	138639	broad.mit.edu	36	9	95900364	95900364	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:95900364C>T	uc010mrj.1	+	c.1695C>T	c.(1693-1695)GTC>GTT	p.V565V	PTPDC1_uc004auf.1_Silent_p.V511V|PTPDC1_uc004aug.1_Silent_p.V511V|PTPDC1_uc010mri.1_Silent_p.V563V|PTPDC1_uc004auh.1_Silent_p.V563V	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	511							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1														0.27027	118.36653	127.17733	50	135	CC		KEEP	---	---	---	---	capture			Silent	SNP	95900364	95900364	13228	9	C	T	T	30	30	PTPDC1	T	2	2
FBP2	8789	broad.mit.edu	36	9	96389456	96389456	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:96389456A>G	uc004auv.1	-	c.287T>C	c.(286-288)GTC>GCC	p.V96A		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	96					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)												0.20398	98.183018	114.518303	41	160	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96389456	96389456	5942	9	A	G	G	10	10	FBP2	G	4	4
FBP1	2203	broad.mit.edu	36	9	96422539	96422539	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:96422539C>T	uc004auw.2	-	c.226G>A	c.(226-228)GTC>ATC	p.V76I	FBP1_uc010mrl.1_Missense_Mutation_p.V76I	NM_000507	NP_001121100	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	76					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	Ovarian(142;590 2466 25593 44496)								0.186916	35.032756	44.865572	20	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96422539	96422539	5941	9	C	T	T	19	19	FBP1	T	1	1
C9orf3	84909	broad.mit.edu	36	9	96562030	96562030	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:96562030G>A	uc004ava.1	+	c.144G>A	c.(142-144)GAG>GAA	p.E48E	C9orf3_uc004aux.1_Silent_p.E48E|C9orf3_uc004auy.1_Silent_p.E48E|C9orf3_uc004auz.1_Silent_p.E48E	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	48					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1														0.22449	79.994335	90.25078	33	114	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	Silent	SNP	96562030	96562030	2592	9	G	A	A	35	35	C9orf3	A	2	2
C9orf3	84909	broad.mit.edu	36	9	96562267	96562267	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:96562267C>T	uc004ava.1	+	c.381C>T	c.(379-381)AGC>AGT	p.S127S	C9orf3_uc004aux.1_Silent_p.S127S|C9orf3_uc004auy.1_Silent_p.S127S|C9orf3_uc004auz.1_Silent_p.S127S	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	127					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1														0.235821	367.085156	409.863588	158	512	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	Silent	SNP	96562267	96562267	2592	9	C	T	T	28	28	C9orf3	T	2	2
C9orf3	84909	broad.mit.edu	36	9	96594877	96594877	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:96594877G>A	uc004ava.1	+	c.974G>A	c.(973-975)AGC>AAC	p.S325N	C9orf3_uc004aux.1_Missense_Mutation_p.S325N|C9orf3_uc004auy.1_Missense_Mutation_p.S325N|C9orf3_uc004auz.1_Missense_Mutation_p.S325N	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	325					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1														0.204651	193.472977	228.26836	88	342	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	Missense_Mutation	SNP	96594877	96594877	2592	9	G	A	A	34	34	C9orf3	A	2	2
DMRT3	58524	broad.mit.edu	36	9	967156	967156	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:967156A>G	uc003zgw.1	+	c.155A>G	c.(154-156)GAC>GGC	p.D52G		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	52	DM.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|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)												0.344086	94.574035	96.569742	32	61	AA		KEEP	---	---	---	---	capture		Lung(218;0.0196)	Missense_Mutation	SNP	967156	967156	4767	9	A	G	G	10	10	DMRT3	G	4	4
FANCC	2176	broad.mit.edu	36	9	96913654	96913654	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:96913654G>A	uc004avh.1	-	c.1241C>T	c.(1240-1242)TCG>TTG	p.S414L	FANCC_uc004avi.2_Missense_Mutation_p.S414L	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	414					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)								456				0.212766	99.208752	117.071422	50	185	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96913654	96913654	5900	9	G	A	A	37	37	FANCC	A	1	1
PTCH1	5727	broad.mit.edu	36	9	97255703	97255703	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:97255703G>A	uc004avk.2	-	c.3327C>T	c.(3325-3327)GGC>GGT	p.G1109G	PTCH1_uc010mro.1_Silent_p.G958G|PTCH1_uc010mrp.1_Silent_p.G958G|PTCH1_uc010mrq.1_Silent_p.G958G|PTCH1_uc004avl.2_Silent_p.G958G|PTCH1_uc010mrr.1_Silent_p.G1043G|PTCH1_uc004avm.2_Silent_p.G1108G	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	patched isoform L	1109	Cytoplasmic (Potential).			G -> S (in Ref. 2; AAC50496).	embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.C1043fs*8(1)		skin(229)|central_nervous_system(43)|bone(33)|upper_aerodigestive_tract(10)|lung(5)|large_intestine(4)|oesophagus(3)|ovary(3)|breast(2)|vulva(1)	333		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)							p.G1109G(MOLT16-Tumor)	509				0.263636	64.837051	70.388035	29	81	GG		KEEP	---	---	---	---	capture			Silent	SNP	97255703	97255703	13184	9	G	A	A	38	38	PTCH1	A	1	1
PTCH1	5727	broad.mit.edu	36	9	97310323	97310323	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:97310323C>T	uc004avk.2	-	c.142G>A	c.(142-144)GAC>AAC	p.D48N	PTCH1_uc010mro.1_5'Flank|PTCH1_uc010mrp.1_5'Flank|PTCH1_uc010mrq.1_5'Flank|PTCH1_uc004avl.2_5'Flank|PTCH1_uc010mrr.1_Intron|PTCH1_uc004avm.2_Intron|PTCH1_uc010mrt.1_5'Flank|PTCH1_uc010mru.1_5'Flank|PTCH1_uc004avo.2_Intron|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	patched isoform L	48	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(229)|central_nervous_system(43)|bone(33)|upper_aerodigestive_tract(10)|lung(5)|large_intestine(4)|oesophagus(3)|ovary(3)|breast(2)|vulva(1)	333		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)								509				0.686275	104.813583	106.394446	35	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97310323	97310323	13184	9	C	T	T	30	30	PTCH1	T	2	2
SLC35D2	11046	broad.mit.edu	36	9	98162324	98162324	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:98162324G>A	uc004awc.1	-	c.280C>T	c.(280-282)CTG>TTG	p.L94L	SLC35D2_uc010msd.1_Non-coding_Transcript|SLC35D2_uc010mse.1_Silent_p.L94L|SLC35D2_uc010msf.1_Silent_p.L94L|SLC35D2_uc004awd.1_Intron|SLC35D2_uc004awe.1_Silent_p.L94L	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2	94	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)												0.15625	13.935042	21.136474	10	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	98162324	98162324	15079	9	G	A	A	34	34	SLC35D2	A	2	2
ZNF510	22869	broad.mit.edu	36	9	98561770	98561770	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:98561770G>A	uc004awn.1	-	c.1163C>T	c.(1162-1164)ACG>ATG	p.T388M	ZNF510_uc004awo.1_Missense_Mutation_p.T388M	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)												0.685885	1032.873801	1048.327669	345	158	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98561770	98561770	18548	9	G	A	A	40	40	ZNF510	A	1	1
ZNF510	22869	broad.mit.edu	36	9	98561850	98561850	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:98561850C>T	uc004awn.1	-	c.1083G>A	c.(1081-1083)GAG>GAA	p.E361E	ZNF510_uc004awo.1_Silent_p.E361E	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)												0.198198	195.425004	233.091002	88	356	CC		KEEP	---	---	---	---	capture			Silent	SNP	98561850	98561850	18548	9	C	T	T	32	32	ZNF510	T	2	2
ZNF782	158431	broad.mit.edu	36	9	98620776	98620776	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:98620776G>A	uc004awp.1	-	c.1350C>T	c.(1348-1350)TTC>TTT	p.F450F		NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	450	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)												0.218814	229.756201	265.390793	107	382	GG		KEEP	---	---	---	---	capture			Silent	SNP	98620776	98620776	18753	9	G	A	A	37	37	ZNF782	A	1	1
ZNF782	158431	broad.mit.edu	36	9	98621061	98621061	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:98621061T>C	uc004awp.1	-	c.1065A>G	c.(1063-1065)GTA>GTG	p.V355V		NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	355	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)												0.203557	265.993162	307.228146	103	403	TT		KEEP	---	---	---	---	capture			Silent	SNP	98621061	98621061	18753	9	T	C	C	57	57	ZNF782	C	4	4
FAM22G	441457	broad.mit.edu	36	9	98733935	98733935	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:98733935C>A	uc004awq.1	+	c.127C>A	c.(127-129)CTC>ATC	p.L43I		NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	43										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)												0.153846	20.711748	32.669567	16	88	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98733935	98733935	5761	9	C	A	A	24	24	FAM22G	A	3	3
TDRD7	23424	broad.mit.edu	36	9	99230618	99230618	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99230618C>A	uc004axj.1	+	c.50C>A	c.(49-51)TCT>TAT	p.S17Y		NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	17	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)												0.236111	71.067256	80.245671	34	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99230618	99230618	16262	9	C	A	A	32	32	TDRD7	A	3	3
TDRD7	23424	broad.mit.edu	36	9	99267119	99267119	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99267119G>T	uc004axj.1	+	c.1617G>T	c.(1615-1617)GAG>GAT	p.E539D		NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	539	Tudor 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)												0.171429	20.252872	27.401809	12	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99267119	99267119	16262	9	G	T	T	33	33	TDRD7	T	3	3
TDRD7	23424	broad.mit.edu	36	9	99280668	99280668	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99280668C>T	uc004axj.1	+	c.2293C>T	c.(2293-2295)CCA>TCA	p.P765S	TDRD7_uc010msp.1_5'UTR	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	765					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)												0.171756	81.652541	108.305501	45	217	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99280668	99280668	16262	9	C	T	T	18	18	TDRD7	T	2	2
TDRD7	23424	broad.mit.edu	36	9	99285389	99285389	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99285389C>T	uc004axj.1	+	c.2850C>T	c.(2848-2850)AGC>AGT	p.S950S	TDRD7_uc010msp.1_Silent_p.S202S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	950	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)												0.184211	63.214258	80.993142	35	155	CC		KEEP	---	---	---	---	capture			Silent	SNP	99285389	99285389	16262	9	C	T	T	27	27	TDRD7	T	1	1
TSTD2	158427	broad.mit.edu	36	9	99404634	99404634	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99404634G>A	uc004axn.1	-	c.1489C>T	c.(1489-1491)CGA>TGA	p.R497*	TSTD2_uc004axo.1_Nonsense_Mutation_p.R271*	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	hypothetical protein LOC158427	497										ovary(2)	2														0.218045	58.218388	67.957003	29	104	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	99404634	99404634	17229	9	G	A	A	38	38	TSTD2	A	5	1
HEMGN	55363	broad.mit.edu	36	9	99732812	99732812	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99732812G>T	uc004axy.1	-	c.686C>A	c.(685-687)GCT>GAT	p.A229D	HEMGN_uc004axz.1_Missense_Mutation_p.A229D	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	229					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.235469	334.753758	377.755102	158	513	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99732812	99732812	7333	9	G	T	T	34	34	HEMGN	T	3	3
HEMGN	55363	broad.mit.edu	36	9	99733310	99733310	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99733310C>T	uc004axy.1	-	c.188G>A	c.(187-189)CGC>CAC	p.R63H	HEMGN_uc004axz.1_Missense_Mutation_p.R63H	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	63	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.186508	88.580151	111.785624	47	205	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99733310	99733310	7333	9	C	T	T	27	27	HEMGN	T	1	1
CORO2A	7464	broad.mit.edu	36	9	99930740	99930740	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99930740G>A	uc004ayl.1	-	c.1050C>T	c.(1048-1050)ATC>ATT	p.I350I	CORO2A_uc004ayk.1_5'Flank|CORO2A_uc004aym.1_Silent_p.I350I	NM_003389	NP_438171	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	350					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			ovary(1)|pancreas(1)	2		Acute lymphoblastic leukemia(62;0.0559)												0.261538	78.279293	84.980286	34	96	GG		KEEP	---	---	---	---	capture			Silent	SNP	99930740	99930740	3894	9	G	A	A	37	37	CORO2A	A	1	1
NOX1	27035	broad.mit.edu	36	X	100005191	100005191	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100005191C>T	uc004egj.1	-	c.191G>A	c.(190-192)AGC>AAC	p.S64N	NOX1_uc004egl.2_Missense_Mutation_p.S64N|NOX1_uc010nne.1_Intron	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	64	Ferric oxidoreductase.|Helical; (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|NADP metabolic process|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|NADP binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1														0.202532	35.852884	42.347892	16	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100005191	100005191	10960	23	C	T	T	28	28	NOX1	T	2	2
ARL13A	392509	broad.mit.edu	36	X	100115389	100115389	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100115389C>T	uc004ego.1	+	c.55C>T	c.(55-57)CGA>TGA	p.R19*	ARL13A_uc010nng.1_Nonsense_Mutation_p.R19*	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13	19							GTP binding			ovary(1)	1														0.256637	65.30623	71.389707	29	84	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	100115389	100115389	943	23	C	T	T	19	19	ARL13A	T	5	1
ARL13A	392509	broad.mit.edu	36	X	100129098	100129098	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100129098C>T	uc004ego.1	+	c.550C>T	c.(550-552)CGC>TGC	p.R184C	ARL13A_uc010nng.1_Missense_Mutation_p.R184C	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13	184							GTP binding			ovary(1)	1														0.241667	63.312621	70.621444	29	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100129098	100129098	943	23	C	T	T	27	27	ARL13A	T	1	1
TRMT2B	79979	broad.mit.edu	36	X	100183715	100183715	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100183715C>T	uc004egq.1	-	c.220G>A	c.(220-222)GGA>AGA	p.G74R	TRMT2B_uc004egp.1_Non-coding_Transcript|TRMT2B_uc004egr.1_Missense_Mutation_p.G74R|TRMT2B_uc004egs.1_Missense_Mutation_p.G74R|TRMT2B_uc004egt.1_Missense_Mutation_p.G74R|TRMT2B_uc004egu.1_Intron|TRMT2B_uc004egv.1_Missense_Mutation_p.G74R	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	74							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1														0.181347	70.598809	89.024732	35	158	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100183715	100183715	17116	23	C	T	T	21	21	TRMT2B	T	2	2
TMEM35	59353	broad.mit.edu	36	X	100236242	100236242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100236242C>T	uc004egw.1	+	c.145C>T	c.(145-147)CGA>TGA	p.R49*		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	49	Interaction with NGFR (By similarity).					cytoplasmic membrane-bounded vesicle|integral to membrane					0														0.304511	202.641801	211.7323	81	185	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	100236242	100236242	16696	23	C	T	T	31	31	TMEM35	T	5	1
CENPI	2491	broad.mit.edu	36	X	100269175	100269175	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100269175C>T	uc004egx.1	+	c.939C>T	c.(937-939)CTC>CTT	p.L313L	CENPI_uc004egy.2_Silent_p.L313L	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	313					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm				skin(1)	1														0.267123	91.549202	98.707688	39	107	CC		KEEP	---	---	---	---	capture			Silent	SNP	100269175	100269175	3366	23	C	T	T	29	29	CENPI	T	2	2
CENPI	2491	broad.mit.edu	36	X	100303185	100303185	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100303185G>A	uc004egx.1	+	c.2107G>A	c.(2107-2109)GAA>AAA	p.E703K		NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	703					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm				skin(1)	1														0.261682	73.747754	79.248942	28	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100303185	100303185	3366	23	G	A	A	33	33	CENPI	A	2	2
TAF7L	54457	broad.mit.edu	36	X	100425108	100425108	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100425108C>T	uc004ehb.1	-	c.523G>A	c.(523-525)GCA>ACA	p.A175T	TAF7L_uc004eha.1_Missense_Mutation_p.A89T|TAF7L_uc004ehc.1_Missense_Mutation_p.A89T	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	175					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding|general RNA polymerase II transcription factor activity			breast(1)	1						Ovarian(104;431 1530 3210 15406 18594)								0.570552	544.44461	545.853218	186	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100425108	100425108	16054	23	C	T	T	28	28	TAF7L	T	2	2
WWC3	55841	broad.mit.edu	36	X	10045429	10045429	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:10045429G>T	uc004csx.2	+	c.1330G>T	c.(1330-1332)GAC>TAC	p.D444Y	WWC3_uc010nds.1_Missense_Mutation_p.D108Y|WWC3_uc010ndt.1_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	444	Ser-rich.									ovary(4)	4														0.166667	30.242976	44.800366	23	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10045429	10045429	17987	23	G	T	T	41	41	WWC3	T	3	3
ARMCX3	51566	broad.mit.edu	36	X	100767609	100767609	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100767609C>T	uc004ehz.1	+	c.984C>T	c.(982-984)TTC>TTT	p.F328F	ARMCX3_uc004eia.1_Silent_p.F328F|ARMCX3_uc004eib.1_Silent_p.F328F|ARMCX3_uc004eic.1_Silent_p.F328F|ARMCX3_uc010nns.1_Silent_p.F328F	NM_016607	NP_808817	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	328						integral to membrane	binding			ovary(1)|lung(1)	2														0.261044	148.93835	161.826851	65	184	CC		KEEP	---	---	---	---	capture			Silent	SNP	100767609	100767609	979	23	C	T	T	31	31	ARMCX3	T	1	1
NXF5	55998	broad.mit.edu	36	X	100983388	100983388	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100983388G>A	uc004eih.1	-	c.154C>T	c.(154-156)CGG>TGG	p.R52W	NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	52	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1														0.308219	227.43183	237.009938	90	202	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100983388	100983388	11191	23	G	A	A	37	37	NXF5	A	1	1
ZMAT1	84460	broad.mit.edu	36	X	101026278	101026278	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101026278G>A	uc004eio.1	-	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*	ZMAT1_uc010nnw.1_Silent_p.V259V|ZMAT1_uc004ein.1_Silent_p.V88V|ZMAT1_uc004eim.1_Silent_p.V88V	NM_032441	NP_115817	A7MD47	A7MD47_HUMAN	zinc finger, matrin type 1 isoform 3	Error:Variant_position_missing_in_A7MD47_after_alignment						nucleus	zinc ion binding			ovary(1)	1														0.624625	623.079852	627.636667	208	125	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	101026278	101026278	18282	23	G	A	A	37	37	ZMAT1	A	5	1
ZMAT1	84460	broad.mit.edu	36	X	101039818	101039818	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101039818T>A	uc004eio.1	-	c.552A>T	c.(550-552)TTA>TTT	p.L184F	ZMAT1_uc010nnw.1_Missense_Mutation_p.Y87F|ZMAT1_uc004ein.1_5'UTR	NM_032441	NP_115817	A7MD47	A7MD47_HUMAN	zinc finger, matrin type 1 isoform 3	Error:Variant_position_missing_in_A7MD47_after_alignment						nucleus	zinc ion binding			ovary(1)	1														0.267857	74.406783	79.852331	30	82	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101039818	101039818	18282	23	T	A	A	49	49	ZMAT1	A	4	4
CLCN4	1183	broad.mit.edu	36	X	10123115	10123115	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:10123115G>A	uc004csy.2	+	c.409G>A	c.(409-411)GAG>AAG	p.E137K		NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	137						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)	4						Melanoma(74;1050 1296 1576 30544 38374)								0.237179	82.389637	92.243154	37	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10123115	10123115	3601	23	G	A	A	41	41	CLCN4	A	2	2
TCEAL6	158931	broad.mit.edu	36	X	101282744	101282744	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101282744G>A	uc004eiq.1	-	c.216C>T	c.(214-216)TCC>TCT	p.S72S	TCEAL6_uc010nny.1_Silent_p.S72S	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	72	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1														0.32107	277.695097	286.197962	96	203	GG		KEEP	---	---	---	---	capture			Silent	SNP	101282744	101282744	16201	23	G	A	A	39	39	TCEAL6	A	1	1
NXF2B	728343	broad.mit.edu	36	X	101468054	101468054	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101468054C>T	uc004eiv.2	+	c.1851C>T	c.(1849-1851)ATC>ATT	p.I617I	NXF2B_uc004eiu.2_Silent_p.I617I|NXF2B_uc004eiw.2_3'UTR|NXF2_uc004eix.2_Silent_p.I617I	NM_001099686	NP_071336	Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	617	TAP-C.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			ovary(1)	1														0.205128	82.087668	97.828302	40	155	CC		KEEP	---	---	---	---	capture			Silent	SNP	101468054	101468054	11189	23	C	T	T	30	30	NXF2B	T	2	2
GPRASP1	9737	broad.mit.edu	36	X	101798320	101798320	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101798320C>A	uc004ejj.2	+	c.2823C>A	c.(2821-2823)TTC>TTA	p.F941L	GPRASP1_uc004eji.2_Missense_Mutation_p.F941L|GPRASP1_uc010nod.1_Missense_Mutation_p.F941L|GPRASP1_uc010noe.1_Missense_Mutation_p.F941L	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	941	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2														0.61	348.549057	350.660111	122	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101798320	101798320	6998	23	C	A	A	32	32	GPRASP1	A	3	3
GPRASP2	114928	broad.mit.edu	36	X	101858278	101858278	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101858278C>T	uc004ejk.1	+	c.1825C>T	c.(1825-1827)CGG>TGG	p.R609W	GPRASP2_uc004ejl.1_Missense_Mutation_p.R609W|GPRASP2_uc004ejm.1_Missense_Mutation_p.R609W|GPRASP2_uc010nof.1_Missense_Mutation_p.R609W	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	609						cytoplasm	protein binding			ovary(1)	1														0.587209	300.685371	301.825087	101	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101858278	101858278	6999	23	C	T	T	31	31	GPRASP2	T	1	1
GPRASP2	114928	broad.mit.edu	36	X	101858649	101858649	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101858649G>A	uc004ejk.1	+	c.2196G>A	c.(2194-2196)GCG>GCA	p.A732A	GPRASP2_uc004ejl.1_Silent_p.A732A|GPRASP2_uc004ejm.1_Silent_p.A732A|GPRASP2_uc010nof.1_Silent_p.A732A	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	732						cytoplasm	protein binding			ovary(1)	1														0.225225	109.33001	124.73318	50	172	GG		KEEP	---	---	---	---	capture			Silent	SNP	101858649	101858649	6999	23	G	A	A	37	37	GPRASP2	A	1	1
GPRASP2	114928	broad.mit.edu	36	X	101858901	101858901	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101858901G>T	uc004ejk.1	+	c.2448G>T	c.(2446-2448)GAG>GAT	p.E816D	GPRASP2_uc004ejl.1_Missense_Mutation_p.E816D|GPRASP2_uc004ejm.1_Missense_Mutation_p.E816D|GPRASP2_uc010nof.1_Missense_Mutation_p.E816D	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	816						cytoplasm	protein binding			ovary(1)	1														0.233898	152.311382	171.440146	69	226	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101858901	101858901	6999	23	G	T	T	35	35	GPRASP2	T	3	3
NXF3	56000	broad.mit.edu	36	X	102226080	102226080	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:102226080C>T	uc004eju.1	-	c.198_splice	c.e3-1	p.Y66_splice	NXF3_uc010noi.1_5'Flank	NM_022052	NP_071335			nuclear RNA export factor 3							cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.222222	106.589804	120.647674	44	154	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	102226080	102226080	11190	23	C	T	T	28	28	NXF3	T	5	2
TCEAL5	340543	broad.mit.edu	36	X	102415838	102415838	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:102415838C>T	uc004ejz.1	-	c.310G>A	c.(310-312)GAA>AAA	p.E104K	TCEAL5_uc010nol.1_Missense_Mutation_p.E104K	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2														0.217391	132.31548	154.342589	65	234	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102415838	102415838	16200	23	C	T	T	31	31	TCEAL5	T	1	1
BEX2	84707	broad.mit.edu	36	X	102451283	102451283	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:102451283C>T	uc004eka.1	-	c.365G>A	c.(364-366)AGA>AAA	p.R122K	BEX2_uc004ekb.1_Missense_Mutation_p.R93K|BEX2_uc010nom.1_Missense_Mutation_p.R93K	NM_032621	NP_116010	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	93					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				ovary(1)	1														0.605556	668.113038	671.601687	218	142	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102451283	102451283	1435	23	C	T	T	32	32	BEX2	T	2	2
TCEAL3	85012	broad.mit.edu	36	X	102750935	102750935	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:102750935C>T	uc004ekq.1	+	c.287C>T	c.(286-288)GCC>GTC	p.A96V	TCEAL3_uc004ekr.1_Missense_Mutation_p.A96V|TCEAL3_uc010noq.1_Missense_Mutation_p.A96V	NM_001006933	NP_116315	Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0														0.643087	596.962059	602.588833	200	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102750935	102750935	16198	23	C	T	T	26	26	TCEAL3	T	2	2
MORF4L2	9643	broad.mit.edu	36	X	102818449	102818449	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:102818449G>T	uc004ekw.1	-	c.163C>A	c.(163-165)CTC>ATC	p.L55I	MORF4L2_uc004ekx.1_Missense_Mutation_p.L55I|MORF4L2_uc004eky.1_Missense_Mutation_p.L55I|MORF4L2_uc004ekz.1_Missense_Mutation_p.L55I|MORF4L2_uc004ela.1_Missense_Mutation_p.L55I|MORF4L2_uc004elb.1_Missense_Mutation_p.L55I|MORF4L2_uc004elf.1_Missense_Mutation_p.L55I|MORF4L2_uc004elc.1_Missense_Mutation_p.L55I|MORF4L2_uc004eld.1_Missense_Mutation_p.L55I|MORF4L2_uc004ele.1_Missense_Mutation_p.L55I|MORF4L2_uc010nos.1_Missense_Mutation_p.L55I	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	55					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding				0														0.296089	124.390076	131.056922	53	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102818449	102818449	10098	23	G	T	T	33	33	MORF4L2	T	3	3
H2BFWT	158983	broad.mit.edu	36	X	103154538	103154538	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:103154538G>A	uc004elr.1	-	c.351C>T	c.(349-351)ATC>ATT	p.I117I		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	117					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1														0.280702	73.235628	78.176559	32	82	GG		KEEP	---	---	---	---	capture			Silent	SNP	103154538	103154538	7214	23	G	A	A	37	37	H2BFWT	A	1	1
MID1	4281	broad.mit.edu	36	X	10377511	10377511	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:10377511G>A	uc004cte.2	-	c.1901C>T	c.(1900-1902)GCG>GTG	p.A634V	MID1_uc004ctd.2_Missense_Mutation_p.A345V|MID1_uc004ctg.2_Missense_Mutation_p.A634V|MID1_uc004cth.2_Missense_Mutation_p.A596V|MID1_uc004ctk.2_Missense_Mutation_p.A634V|MID1_uc004cti.2_Missense_Mutation_p.A634V|MID1_uc004ctj.2_Missense_Mutation_p.A634V|MID1_uc004cta.2_Missense_Mutation_p.A390V|MID1_uc004ctb.2_Missense_Mutation_p.A294V|MID1_uc004csz.2_Missense_Mutation_p.A306V|MID1_uc004ctc.2_Missense_Mutation_p.A401V	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	634	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3														0.287425	112.045845	118.807089	48	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10377511	10377511	9966	23	G	A	A	38	38	MID1	A	1	1
MID1	4281	broad.mit.edu	36	X	10382947	10382947	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:10382947G>A	uc004cte.2	-	c.1618C>T	c.(1618-1620)CGG>TGG	p.R540W	MID1_uc004ctd.2_Missense_Mutation_p.R251W|MID1_uc004ctg.2_Missense_Mutation_p.R540W|MID1_uc004cth.2_Missense_Mutation_p.R502W|MID1_uc004ctk.2_Missense_Mutation_p.R540W|MID1_uc004cti.2_Missense_Mutation_p.R540W|MID1_uc004ctj.2_Missense_Mutation_p.R540W|MID1_uc004cta.2_Missense_Mutation_p.R296W|MID1_uc004ctb.2_Missense_Mutation_p.R200W|MID1_uc004csz.2_Missense_Mutation_p.R212W|MID1_uc004ctc.2_Missense_Mutation_p.R307W	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	540	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3														0.258993	84.538269	91.851286	36	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10382947	10382947	9966	23	G	A	A	39	39	MID1	A	1	1
MID1	4281	broad.mit.edu	36	X	10397741	10397741	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:10397741G>A	uc004cte.2	-	c.1281C>T	c.(1279-1281)GTC>GTT	p.V427V	MID1_uc004ctd.2_Silent_p.V138V|MID1_uc004ctg.2_Silent_p.V427V|MID1_uc004cth.2_Silent_p.V389V|MID1_uc004ctk.2_Silent_p.V427V|MID1_uc004cti.2_Silent_p.V427V|MID1_uc004ctj.2_Silent_p.V427V|MID1_uc004ctm.1_Silent_p.V478V|MID1_uc004ctn.1_Silent_p.V427V|MID1_uc004cto.1_Silent_p.V389V|MID1_uc004cta.2_Silent_p.V183V|MID1_uc004ctb.2_Silent_p.V87V|MID1_uc004csz.2_Silent_p.V99V|MID1_uc004ctc.2_Silent_p.V194V|MID1_uc004ctl.1_Silent_p.V183V	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	427	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3														0.594378	444.716373	446.651226	148	101	GG		KEEP	---	---	---	---	capture			Silent	SNP	10397741	10397741	9966	23	G	A	A	37	37	MID1	A	1	1
TEX13A	56157	broad.mit.edu	36	X	104351507	104351507	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:104351507G>T	uc004ema.1	-	c.231C>A	c.(229-231)CGC>CGA	p.R77R	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.1_Silent_p.R77R	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	77						intracellular	zinc ion binding			ovary(2)	2														0.240385	51.31171	57.719658	25	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	104351507	104351507	16303	23	G	T	T	34	34	TEX13A	T	3	3
IL1RAPL2	26280	broad.mit.edu	36	X	104871259	104871259	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:104871259G>A	uc004elz.1	+	c.967G>A	c.(967-969)GAA>AAA	p.E323K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	323	Ig-like C2-type 3.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3														0.273256	111.947703	119.919421	47	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104871259	104871259	7963	23	G	A	A	41	41	IL1RAPL2	A	2	2
NRK	203447	broad.mit.edu	36	X	105037098	105037098	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105037098C>T	uc004emd.1	+	c.881C>T	c.(880-882)ACG>ATG	p.T294M	NRK_uc010npc.1_De_novo_Start_OutOfFrame	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	294	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.282051	26.40739	28.072816	11	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105037098	105037098	11060	23	C	T	T	19	19	NRK	T	1	1
NRK	203447	broad.mit.edu	36	X	105068203	105068203	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105068203C>A	uc004emd.1	+	c.3772C>A	c.(3772-3774)CCA>ACA	p.P1258T	NRK_uc010npc.1_Missense_Mutation_p.P926T	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1258	CNH.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.188406	26.432522	32.70449	13	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105068203	105068203	11060	23	C	A	A	26	26	NRK	A	3	3
NRK	203447	broad.mit.edu	36	X	105077063	105077063	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105077063T>C	uc004emd.1	+	c.4304T>C	c.(4303-4305)CTC>CCC	p.L1435P		NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1435	CNH.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.268421	154.051773	163.241572	51	139	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105077063	105077063	11060	23	T	C	C	54	54	NRK	C	4	4
SERPINA7	6906	broad.mit.edu	36	X	105167256	105167256	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105167256G>A	uc004eme.1	-	c.450C>T	c.(448-450)GTC>GTT	p.V150V	SERPINA7_uc010npd.1_Silent_p.V150V|SERPINA7_uc010npe.1_Silent_p.V150V	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	150					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)									0.638177	657.412684	663.290934	224	127	GG		KEEP	---	---	---	---	capture			Silent	SNP	105167256	105167256	14582	23	G	A	A	45	45	SERPINA7	A	2	2
MUM1L1	139221	broad.mit.edu	36	X	105336514	105336514	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105336514C>A	uc004emf.1	+	c.433C>A	c.(433-435)CTT>ATT	p.L145I	MUM1L1_uc004emg.1_Missense_Mutation_p.L145I	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	145										ovary(2)|pancreas(1)|skin(1)	4														0.640625	119.180803	120.292127	41	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105336514	105336514	10380	23	C	A	A	32	32	MUM1L1	A	3	3
MUM1L1	139221	broad.mit.edu	36	X	105337329	105337329	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105337329A>C	uc004emf.1	+	c.1248A>C	c.(1246-1248)AAA>AAC	p.K416N	MUM1L1_uc004emg.1_Missense_Mutation_p.K416N	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	416	PWWP.									ovary(2)|pancreas(1)|skin(1)	4														0.150943	14.364343	20.551971	8	45	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105337329	105337329	10380	23	A	C	C	3	3	MUM1L1	C	4	4
MUM1L1	139221	broad.mit.edu	36	X	105337792	105337792	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105337792C>T	uc004emf.1	+	c.1711C>T	c.(1711-1713)CTG>TTG	p.L571L	MUM1L1_uc004emg.1_Silent_p.L571L	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	571										ovary(2)|pancreas(1)|skin(1)	4														0.382353	37.56592	37.978969	13	21	CC		KEEP	---	---	---	---	capture			Silent	SNP	105337792	105337792	10380	23	C	T	T	32	32	MUM1L1	T	2	2
CXorf57	55086	broad.mit.edu	36	X	105770593	105770593	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105770593C>T	uc004emi.2	+	c.1890C>T	c.(1888-1890)GGC>GGT	p.G630G	CXorf57_uc004emj.2_Silent_p.G533G	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	630										ovary(1)|lung(1)|breast(1)	3														0.2	91.505006	109.900086	44	176	CC		KEEP	---	---	---	---	capture			Silent	SNP	105770593	105770593	4277	23	C	T	T	26	26	CXorf57	T	2	2
CLDN2	9075	broad.mit.edu	36	X	106058700	106058700	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:106058700G>A	uc004emq.1	+	c.586G>A	c.(586-588)GAT>AAT	p.D196N	MORC4_uc004emp.2_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.D196N|CLDN2_uc010npf.1_Missense_Mutation_p.D196N	NM_020384	NP_065117	P57739	CLD2_HUMAN	claudin 2	196	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1														0.286667	206.317415	218.573424	86	214	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106058700	106058700	3617	23	G	A	A	37	37	CLDN2	A	1	1
MORC4	79710	broad.mit.edu	36	X	106115918	106115918	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:106115918G>T	uc004emu.2	-	c.477C>A	c.(475-477)GTC>GTA	p.V159V	MORC4_uc004emp.2_Intron|MORC4_uc004emv.2_Silent_p.V159V|MORC4_uc004emw.2_Intron	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	159							ATP binding|zinc ion binding			ovary(1)	1														0.250509	272.188503	299.907948	123	368	GG		KEEP	---	---	---	---	capture			Silent	SNP	106115918	106115918	10095	23	G	T	T	41	41	MORC4	T	3	3
MID2	11043	broad.mit.edu	36	X	106970718	106970718	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:106970718G>A	uc004enl.1	+	c.107G>A	c.(106-108)CGC>CAC	p.R36H	MID2_uc004enk.1_Missense_Mutation_p.R36H	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	56	RING-type.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1														0.26506	195.233507	211.81188	88	244	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106970718	106970718	9968	23	G	A	A	38	38	MID2	A	1	1
TEX13B	56156	broad.mit.edu	36	X	107111905	107111905	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107111905C>T	uc004enn.1	-	c.109G>A	c.(109-111)GAG>AAG	p.E37K		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed sequence 13B	37										ovary(1)	1														0.235507	141.354225	159.002413	65	211	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107111905	107111905	16304	23	C	T	T	31	31	TEX13B	T	1	1
VSIG1	340547	broad.mit.edu	36	X	107207171	107207171	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107207171G>A	uc004eno.1	+	c.1068G>A	c.(1066-1068)TCG>TCA	p.S356S		NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	356	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1														0.211921	65.819584	77.405447	32	119	GG		KEEP	---	---	---	---	capture			Silent	SNP	107207171	107207171	17789	23	G	A	A	39	39	VSIG1	A	1	1
COL4A6	1288	broad.mit.edu	36	X	107289592	107289592	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107289592A>C	uc004enw.2	-	c.4571T>G	c.(4570-4572)TTC>TGC	p.F1524C	COL4A6_uc004env.2_Missense_Mutation_p.F1523C|COL4A6_uc010npk.1_Missense_Mutation_p.F1466C|COL4A6_uc010npj.1_Missense_Mutation_p.F3C	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1524	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.259375	233.090348	249.862405	83	237	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107289592	107289592	3833	23	A	C	C	9	9	COL4A6	C	4	4
COL4A6	1288	broad.mit.edu	36	X	107295320	107295320	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107295320G>T	uc004enw.2	-	c.3747C>A	c.(3745-3747)TCC>TCA	p.S1249S	COL4A6_uc004env.2_Silent_p.S1248S|COL4A6_uc010npk.1_Silent_p.S1224S|COL4A6_uc010npj.1_5'Flank	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1249	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.550898	264.340916	264.725202	92	75	GG		KEEP	---	---	---	---	capture			Silent	SNP	107295320	107295320	3833	23	G	T	T	35	35	COL4A6	T	3	3
COL4A6	1288	broad.mit.edu	36	X	107320318	107320318	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107320318T>C	uc004enw.2	-	c.1389A>G	c.(1387-1389)GAA>GAG	p.E463E	COL4A6_uc004env.2_Silent_p.E462E|COL4A6_uc010npk.1_Silent_p.E462E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	463	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.300353	266.08421	276.149679	85	198	TT		KEEP	---	---	---	---	capture			Silent	SNP	107320318	107320318	3833	23	T	C	C	60	60	COL4A6	C	4	4
COL4A6	1288	broad.mit.edu	36	X	107344047	107344047	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107344047G>A	uc004enw.2	-	c.395C>T	c.(394-396)GCT>GTT	p.A132V	COL4A6_uc004env.2_Missense_Mutation_p.A131V|COL4A6_uc010npk.1_Missense_Mutation_p.A131V	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	132	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.523077	306.940897	307.030308	102	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107344047	107344047	3833	23	G	A	A	34	34	COL4A6	A	2	2
COL4A5	1287	broad.mit.edu	36	X	107727375	107727375	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107727375G>A	uc004enz.1	+	c.1700G>A	c.(1699-1701)GGA>GAA	p.G567E	COL4A5_uc010npl.1_Missense_Mutation_p.G567E|COL4A5_uc010npm.1_Missense_Mutation_p.G567E|COL4A5_uc010npn.1_Missense_Mutation_p.G567E|COL4A5_uc004eob.1_Missense_Mutation_p.G175E	NM_033380	NP_000486	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	567	Triple-helical region.		G -> A (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.244275	71.223369	79.039854	32	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107727375	107727375	3832	23	G	A	A	41	41	COL4A5	A	2	2
COL4A5	1287	broad.mit.edu	36	X	107731851	107731851	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107731851C>T	uc004enz.1	+	c.2122C>T	c.(2122-2124)CTT>TTT	p.L708F	COL4A5_uc010npl.1_Missense_Mutation_p.L708F|COL4A5_uc010npm.1_Missense_Mutation_p.L708F|COL4A5_uc010npn.1_Missense_Mutation_p.L708F|COL4A5_uc004eob.1_Missense_Mutation_p.L316F	NM_033380	NP_000486	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	708	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.235294	9.790632	10.880577	4	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107731851	107731851	3832	23	C	T	T	28	28	COL4A5	T	2	2
COL4A5	1287	broad.mit.edu	36	X	107807431	107807431	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107807431G>A	uc004enz.1	+	c.3854G>A	c.(3853-3855)GGT>GAT	p.G1285D	COL4A5_uc010npl.1_3'UTR|COL4A5_uc010npm.1_Missense_Mutation_p.G1285D|COL4A5_uc010npn.1_Missense_Mutation_p.G1282D	NM_033380	NP_000486	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1279	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.552795	259.171128	259.55957	89	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107807431	107807431	3832	23	G	A	A	44	44	COL4A5	A	2	2
COL4A5	1287	broad.mit.edu	36	X	107817525	107817525	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107817525A>C	uc004enz.1	+	c.4473A>C	c.(4471-4473)GAA>GAC	p.E1491D	COL4A5_uc010npl.1_3'UTR|COL4A5_uc010npm.1_Missense_Mutation_p.E1491D|COL4A5_uc010npn.1_Missense_Mutation_p.E1488D	NM_033380	NP_000486	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1485	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.567568	601.06609	602.384687	189	144	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107817525	107817525	3832	23	A	C	C	3	3	COL4A5	C	4	4
IRS4	8471	broad.mit.edu	36	X	107864039	107864039	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107864039C>T	uc004eoc.1	-	c.2192G>A	c.(2191-2193)CGC>CAC	p.R731H		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	731	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.R731H(1)		ovary(4)|large_intestine(2)|lung(1)|breast(1)|pancreas(1)	9														0.316602	194.532961	202.293964	82	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107864039	107864039	8146	23	C	T	T	27	27	IRS4	T	1	1
IRS4	8471	broad.mit.edu	36	X	107865364	107865364	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107865364C>T	uc004eoc.1	-	c.867G>A	c.(865-867)GAG>GAA	p.E289E		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	289	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|pancreas(1)	9														0.23176	127.627698	142.987825	54	179	CC		KEEP	---	---	---	---	capture			Silent	SNP	107865364	107865364	8146	23	C	T	T	28	28	IRS4	T	2	2
ACSL4	2182	broad.mit.edu	36	X	108798069	108798069	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:108798069C>T	uc004eoi.2	-	c.1355G>A	c.(1354-1356)CGA>CAA	p.R452Q	ACSL4_uc004eoj.2_Missense_Mutation_p.R411Q|ACSL4_uc004eok.2_Missense_Mutation_p.R411Q|ACSL4_uc010npp.1_Missense_Mutation_p.R452Q	NM_022977	NP_004449	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	452	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	Pancreas(188;358 2127 38547 41466 45492)								0.568548	416.586246	417.600039	141	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108798069	108798069	180	23	C	T	T	31	31	ACSL4	T	1	1
ACSL4	2182	broad.mit.edu	36	X	108813341	108813341	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:108813341T>A	uc004eoi.2	-	c.31A>T	c.(31-33)ATT>TTT	p.I11F	ACSL4_uc004eoj.2_Intron|ACSL4_uc004eok.2_Intron|ACSL4_uc010npp.1_Missense_Mutation_p.I11F	NM_022977	NP_004449	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	11	Helical; Signal-anchor for type III membrane protein; (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	Pancreas(188;358 2127 38547 41466 45492)								0.241509	147.188947	163.328766	64	201	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108813341	108813341	180	23	T	A	A	49	49	ACSL4	A	4	4
AMMECR1	9949	broad.mit.edu	36	X	109447909	109447909	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:109447909G>A	uc004eoo.1	-	c.47C>T	c.(46-48)TCG>TTG	p.S16L	AMMECR1_uc004eop.1_Missense_Mutation_p.S16L|AMMECR1_uc004eoq.1_Intron	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	16											0														0.192308	9.565641	11.860598	5	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109447909	109447909	581	23	G	A	A	37	37	AMMECR1	A	1	1
PAK3	5063	broad.mit.edu	36	X	110325780	110325780	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:110325780A>C	uc010npv.1	+	c.1273A>C	c.(1273-1275)AAG>CAG	p.K425Q	PAK3_uc010npt.1_Missense_Mutation_p.K389Q|PAK3_uc010npu.1_Missense_Mutation_p.K389Q|PAK3_uc004eoy.1_Missense_Mutation_p.K144Q|PAK3_uc004eoz.2_Missense_Mutation_p.K389Q|PAK3_uc010npw.1_Missense_Mutation_p.K410Q|PAK3_uc004epa.2_Missense_Mutation_p.K404Q	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform b	404	Protein kinase.				multicellular organismal development|protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(5)|ovary(3)|large_intestine(1)	9										137	TSP Lung(19;0.15)			0.582237	625.832465	627.628565	177	127	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110325780	110325780	11818	23	A	C	C	1	1	PAK3	C	4	4
CAPN6	827	broad.mit.edu	36	X	110378496	110378496	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:110378496C>T	uc004epc.1	-	c.1441G>A	c.(1441-1443)GAG>AAG	p.E481K		NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	481	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6														0.634921	120.011293	121.020129	40	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110378496	110378496	2748	23	C	T	T	31	31	CAPN6	T	1	1
CAPN6	827	broad.mit.edu	36	X	110378633	110378633	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:110378633C>T	uc004epc.1	-	c.1304G>A	c.(1303-1305)CGC>CAC	p.R435H		NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	435	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6														0.251534	87.990356	97.142709	41	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110378633	110378633	2748	23	C	T	T	27	27	CAPN6	T	1	1
CAPN6	827	broad.mit.edu	36	X	110382965	110382965	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:110382965C>A	uc004epc.1	-	c.433G>T	c.(433-435)GGA>TGA	p.G145*		NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	145	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6														0.273585	145.483798	155.261509	58	154	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	110382965	110382965	2748	23	C	A	A	23	23	CAPN6	A	5	3
HCCS	3052	broad.mit.edu	36	X	11049021	11049021	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:11049021C>T	uc004cuk.2	+	c.595C>T	c.(595-597)CGT>TGT	p.R199C	HCCS_uc004cuj.2_Missense_Mutation_p.R199C|HCCS_uc004cul.1_Missense_Mutation_p.R199C	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase (cytochrome c	199					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						Ovarian(86;1338 1347 1462 10340 37882)								0.634043	447.117093	450.831029	149	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11049021	11049021	7272	23	C	T	T	31	31	HCCS	T	1	1
TRPC5	7224	broad.mit.edu	36	X	110906381	110906381	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:110906381G>A	uc004epl.1	-	c.2738C>T	c.(2737-2739)GCT>GTT	p.A913V		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	913	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.636364	199.342496	200.961378	63	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110906381	110906381	17133	23	G	A	A	34	34	TRPC5	A	2	2
TRPC5	7224	broad.mit.edu	36	X	110906748	110906748	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:110906748G>A	uc004epl.1	-	c.2371C>T	c.(2371-2373)CGG>TGG	p.R791W		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	791	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.262609	346.025061	375.304743	151	424	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110906748	110906748	17133	23	G	A	A	37	37	TRPC5	A	1	1
TRPC5	7224	broad.mit.edu	36	X	111042609	111042609	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:111042609C>T	uc004epl.1	-	c.466G>A	c.(466-468)GAA>AAA	p.E156K	TRPC5_uc004epm.1_Missense_Mutation_p.E156K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	156	Cytoplasmic (Potential).|ANK 4.				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.233766	79.619288	89.612364	36	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111042609	111042609	17133	23	C	T	T	31	31	TRPC5	T	1	1
ZCCHC16	340595	broad.mit.edu	36	X	111585209	111585209	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:111585209T>C	uc004epo.1	+	c.597T>C	c.(595-597)ACT>ACC	p.T199T	ZCCHC16_uc010npz.1_Silent_p.T199T	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	199							nucleic acid binding|zinc ion binding			ovary(1)	1														0.25	164.924907	178.820848	61	183	TT		KEEP	---	---	---	---	capture			Silent	SNP	111585209	111585209	18172	23	T	C	C	55	55	ZCCHC16	C	4	4
LHFPL1	340596	broad.mit.edu	36	X	111801047	111801047	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:111801047G>A	uc004epp.1	-	c.297C>T	c.(295-297)ATC>ATT	p.I99I	LHFPL1_uc004epq.1_Silent_p.I76I|LHFPL1_uc010nqa.1_Intron|LHFPL1_uc010nqb.1_Silent_p.I76I	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	76						integral to membrane					0														0.275676	122.965952	131.340287	51	134	GG		KEEP	---	---	---	---	capture			Silent	SNP	111801047	111801047	9090	23	G	A	A	41	41	LHFPL1	A	2	2
AMELX	265	broad.mit.edu	36	X	11226652	11226652	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:11226652T>C	uc004cus.1	+	c.250T>C	c.(250-252)TCC>CCC	p.S84P	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|AMELX_uc004cut.1_Missense_Mutation_p.S70P|AMELX_uc004cuu.1_Missense_Mutation_p.S54P	NM_182680	NP_872621	Q99217	AMELX_HUMAN	amelogenin (X chromosome) isoform 3 precursor	70					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	extracellular matrix part|proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel				0														0.220884	143.55542	161.365748	55	194	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11226652	11226652	572	23	T	C	C	58	58	AMELX	C	4	4
HTR2C	3358	broad.mit.edu	36	X	114047674	114047674	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:114047674G>A	uc004epu.1	+	c.817G>A	c.(817-819)GAG>AAG	p.E273K	HTR2C_uc010nqc.1_Missense_Mutation_p.E273K|HTR2C_uc004epv.1_Missense_Mutation_p.R241Q	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	273	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)									0.240964	178.949636	199.269413	80	252	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114047674	114047674	7743	23	G	A	A	37	37	HTR2C	A	1	1
HTR2C	3358	broad.mit.edu	36	X	114047774	114047774	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:114047774A>C	uc004epu.1	+	c.917A>C	c.(916-918)GAA>GCA	p.E306A	HTR2C_uc010nqc.1_Missense_Mutation_p.E306A|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	306	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)									0.287709	302.795387	317.253471	103	255	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114047774	114047774	7743	23	A	C	C	9	9	HTR2C	C	4	4
IL13RA2	3598	broad.mit.edu	36	X	114155325	114155325	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:114155325T>G	uc004epx.1	-	c.315A>C	c.(313-315)ATA>ATC	p.I105I	IL13RA2_uc010nqd.1_Silent_p.I105I	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	105	Extracellular (Potential).|Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			ovary(1)|lung(1)	2														0.253521	212.295818	227.935902	72	212	TT		KEEP	---	---	---	---	capture			Silent	SNP	114155325	114155325	7931	23	T	G	G	57	57	IL13RA2	G	4	4
IL13RA2	3598	broad.mit.edu	36	X	114156516	114156516	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:114156516G>A	uc004epx.1	-	c.219C>T	c.(217-219)TAC>TAT	p.Y73Y	IL13RA2_uc010nqd.1_Silent_p.Y73Y	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	73	Extracellular (Potential).|Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			ovary(1)|lung(1)	2														0.206897	74.594884	88.45767	36	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	114156516	114156516	7931	23	G	A	A	44	44	IL13RA2	A	2	2
LRCH2	57631	broad.mit.edu	36	X	114263913	114263913	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:114263913G>A	uc010nqe.1	-	c.1948C>T	c.(1948-1950)CGA>TGA	p.R650*	LRCH2_uc004epz.1_Nonsense_Mutation_p.R633*	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	650	CH.									ovary(1)	1														0.327586	46.390715	47.927413	19	39	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	114263913	114263913	9306	23	G	A	A	40	40	LRCH2	A	5	1
LUZP4	51213	broad.mit.edu	36	X	114447129	114447129	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:114447129C>T	uc004eqa.1	+	c.446C>T	c.(445-447)TCC>TTC	p.S149F	LUZP4_uc004eqb.1_Missense_Mutation_p.S67F	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	149						nucleus				ovary(2)	2														0.275862	96.735832	103.296205	40	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114447129	114447129	9464	23	C	T	T	30	30	LUZP4	T	2	2
PLS3	5358	broad.mit.edu	36	X	114784045	114784045	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:114784045G>T	uc004eqd.1	+	c.1152G>T	c.(1150-1152)GAG>GAT	p.E384D	PLS3_uc010nqg.1_Missense_Mutation_p.E166D|PLS3_uc004eqe.1_Missense_Mutation_p.E384D	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	384	Actin-binding 2.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						Colon(160;1047 1864 8490 12969 29601)								0.307229	120.449072	125.957291	51	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114784045	114784045	12534	23	G	T	T	33	33	PLS3	T	3	3
AGTR2	186	broad.mit.edu	36	X	115217894	115217894	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:115217894C>A	uc004eqh.2	+	c.333C>A	c.(331-333)CTC>CTA	p.L111L	AGTR2_uc010nqh.1_Silent_p.L111L	NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	111	Extracellular (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin	integral to plasma membrane	angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3														0.286022	307.249139	326.37872	133	332	CC		KEEP	---	---	---	---	capture			Silent	SNP	115217894	115217894	405	23	C	A	A	32	32	AGTR2	A	3	3
WDR44	54521	broad.mit.edu	36	X	117410746	117410746	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:117410746C>A	uc004eqn.1	+	c.310C>A	c.(310-312)CTG>ATG	p.L104M	WDR44_uc004eqo.1_Missense_Mutation_p.L104M|WDR44_uc010nqi.1_De_novo_Start_InFrame	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	104	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|ovary(1)|pancreas(1)	4														0.572464	226.324296	226.956591	79	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117410746	117410746	17869	23	C	A	A	32	32	WDR44	A	3	3
WDR44	54521	broad.mit.edu	36	X	117427540	117427540	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:117427540G>T	uc004eqn.1	+	c.1594G>T	c.(1594-1596)GAC>TAC	p.D532Y	WDR44_uc004eqo.1_Missense_Mutation_p.D532Y|WDR44_uc010nqi.1_Missense_Mutation_p.D242Y	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	532	WD 1.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|ovary(1)|pancreas(1)	4														0.323404	184.188644	190.710682	76	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117427540	117427540	17869	23	G	T	T	33	33	WDR44	T	3	3
DOCK11	139818	broad.mit.edu	36	X	117564031	117564031	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:117564031C>T	uc004eqp.2	+	c.482C>T	c.(481-483)TCT>TTT	p.S161F		NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	161					blood coagulation	cytosol	GTP binding			ovary(3)	3														0.229947	101.121765	113.629028	43	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117564031	117564031	4870	23	C	T	T	32	32	DOCK11	T	2	2
DOCK11	139818	broad.mit.edu	36	X	117672622	117672622	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:117672622C>A	uc004eqp.2	+	c.4725C>A	c.(4723-4725)GAC>GAA	p.D1575E	DOCK11_uc004eqq.2_Missense_Mutation_p.D1354E	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1575	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3														0.255319	119.607888	129.820871	48	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117672622	117672622	4870	23	C	A	A	20	20	DOCK11	A	3	3
DOCK11	139818	broad.mit.edu	36	X	117689103	117689103	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:117689103C>T	uc004eqp.2	+	c.5166C>T	c.(5164-5166)ATC>ATT	p.I1722I	DOCK11_uc004eqq.2_Silent_p.I1501I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1722	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3														0.25625	94.70071	103.321908	41	119	CC		KEEP	---	---	---	---	capture			Silent	SNP	117689103	117689103	4870	23	C	T	T	31	31	DOCK11	T	1	1
DOCK11	139818	broad.mit.edu	36	X	117694661	117694661	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:117694661G>T	uc004eqp.2	+	c.5393G>T	c.(5392-5394)AGA>ATA	p.R1798I	DOCK11_uc004eqq.2_Missense_Mutation_p.R1577I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1798	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3														0.382609	113.037083	114.438051	44	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117694661	117694661	4870	23	G	T	T	33	33	DOCK11	T	3	3
IL13RA1	3597	broad.mit.edu	36	X	117767683	117767683	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:117767683C>T	uc004eqs.1	+	c.402C>T	c.(400-402)TGC>TGT	p.C134C	IL13RA1_uc004eqr.1_Silent_p.C134C|IL13RA1_uc004eqt.1_Silent_p.C134C	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	134	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0														0.262646	300.851001	327.078643	135	379	CC		KEEP	---	---	---	---	capture			Silent	SNP	117767683	117767683	7930	23	C	T	T	25	25	IL13RA1	T	2	2
IL13RA1	3597	broad.mit.edu	36	X	117784955	117784955	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:117784955G>A	uc004eqs.1	+	c.997G>A	c.(997-999)GAA>AAA	p.E333K	IL13RA1_uc004eqt.1_Missense_Mutation_p.E333K	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	333	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0														0.252336	64.168968	70.133309	27	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117784955	117784955	7930	23	G	A	A	33	33	IL13RA1	A	2	2
KIAA1210	57481	broad.mit.edu	36	X	118105186	118105186	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118105186C>T	uc004era.2	-	c.4035G>A	c.(4033-4035)CAG>CAA	p.Q1345Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1345										ovary(4)|skin(1)	5														0.280488	423.704502	448.585151	161	413	CC		KEEP	---	---	---	---	capture			Silent	SNP	118105186	118105186	8522	23	C	T	T	32	32	KIAA1210	T	2	2
KIAA1210	57481	broad.mit.edu	36	X	118106093	118106093	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118106093C>T	uc004era.2	-	c.3128G>A	c.(3127-3129)GGC>GAC	p.G1043D		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1043										ovary(4)|skin(1)	5														0.527211	446.624156	446.813924	155	139	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118106093	118106093	8522	23	C	T	T	26	26	KIAA1210	T	2	2
KIAA1210	57481	broad.mit.edu	36	X	118107258	118107258	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118107258C>A	uc004era.2	-	c.1963G>T	c.(1963-1965)GAT>TAT	p.D655Y		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	655										ovary(4)|skin(1)	5														0.303371	61.480317	64.55843	27	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118107258	118107258	8522	23	C	A	A	32	32	KIAA1210	A	3	3
KIAA1210	57481	broad.mit.edu	36	X	118107380	118107380	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118107380T>A	uc004era.2	-	c.1841A>T	c.(1840-1842)AAA>ATA	p.K614I		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	614										ovary(4)|skin(1)	5														0.218182	48.947952	56.997229	24	86	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118107380	118107380	8522	23	T	A	A	64	64	KIAA1210	A	4	4
UBE2A	7319	broad.mit.edu	36	X	118600602	118600602	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118600602C>A	uc004erl.1	+	c.265C>A	c.(265-267)CTG>ATG	p.L89M	UBE2A_uc004erm.1_Missense_Mutation_p.L59M|UBE2A_uc004ern.1_Non-coding_Transcript|UBE2A_uc004ero.1_Non-coding_Transcript|UBE2A_uc004erp.1_Missense_Mutation_p.L14M	NM_003336	NP_861442	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	89					histone H2A ubiquitination|positive regulation of cell proliferation|post-translational protein modification|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0														0.237113	97.440389	109.704412	46	148	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118600602	118600602	17401	23	C	A	A	32	32	UBE2A	A	3	3
SEPT6	23157	broad.mit.edu	36	X	118658709	118658709	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118658709C>T	uc004erv.1	-	c.761G>A	c.(760-762)CGG>CAG	p.R254Q	SEPT6_uc004ers.1_Missense_Mutation_p.R254Q|SEPT6_uc004ert.1_Missense_Mutation_p.R254Q|SEPT6_uc010nqk.1_Non-coding_Transcript|SEPT6_uc004eru.1_Missense_Mutation_p.R254Q|SEPT6_uc004erw.2_Missense_Mutation_p.R196Q	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	254		GTP (By similarity).			cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			kidney(1)	1										265				0.266667	100.131696	107.510259	40	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118658709	118658709	14554	23	C	T	T	23	23	SEPT6	T	1	1
RPL39	6170	broad.mit.edu	36	X	118807936	118807936	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118807936G>A	uc004erx.1	-	c.70C>T	c.(70-72)CCC>TCC	p.P24S	SNORA69_uc004ery.1_5'Flank	NM_001000	NP_000991	P62891	RL39_HUMAN	ribosomal protein L39	24					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0														0.277778	100.192466	106.558971	40	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118807936	118807936	14071	23	G	A	A	41	41	RPL39	A	2	2
UPF3B	65109	broad.mit.edu	36	X	118859073	118859073	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118859073C>A	uc004erz.1	-	c.801G>T	c.(799-801)AAG>AAT	p.K267N	UPF3B_uc004esa.1_Missense_Mutation_p.K267N	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	267					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3														0.208333	50.100265	59.562867	25	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118859073	118859073	17566	23	C	A	A	32	32	UPF3B	A	3	3
UPF3B	65109	broad.mit.edu	36	X	118859210	118859210	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118859210C>A	uc004erz.1	-	c.664G>T	c.(664-666)GAA>TAA	p.E222*	UPF3B_uc004esa.1_Nonsense_Mutation_p.E222*	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	222	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3														0.276042	114.323305	123.048529	53	139	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	118859210	118859210	17566	23	C	A	A	32	32	UPF3B	A	5	3
ZBTB33	10009	broad.mit.edu	36	X	119271420	119271420	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119271420G>A	uc004esn.1	+	c.122G>A	c.(121-123)CGA>CAA	p.R41Q	ZBTB33_uc010nqm.1_Missense_Mutation_p.R41Q|ZBTB33_uc010nqn.1_Missense_Mutation_p.R41Q	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	41	BTB.|Self-association (By similarity).|Interaction with NCOR1.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3														0.569597	929.844753	932.144045	311	235	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119271420	119271420	18122	23	G	A	A	37	37	ZBTB33	A	1	1
ZBTB33	10009	broad.mit.edu	36	X	119272439	119272439	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119272439C>T	uc004esn.1	+	c.1141C>T	c.(1141-1143)CTT>TTT	p.L381F	ZBTB33_uc010nqm.1_Missense_Mutation_p.L381F|ZBTB33_uc010nqn.1_Missense_Mutation_p.L381F	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	381					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3														0.595819	551.464631	553.764675	171	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119272439	119272439	18122	23	C	T	T	32	32	ZBTB33	T	2	2
ZBTB33	10009	broad.mit.edu	36	X	119272940	119272940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119272940C>T	uc004esn.1	+	c.1642C>T	c.(1642-1644)CGA>TGA	p.R548*	ZBTB33_uc010nqm.1_Nonsense_Mutation_p.R548*|ZBTB33_uc010nqn.1_Nonsense_Mutation_p.R548*	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	548	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3														0.275093	169.749477	181.999159	74	195	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	119272940	119272940	18122	23	C	T	T	27	27	ZBTB33	T	5	1
FAM70A	55026	broad.mit.edu	36	X	119286259	119286259	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119286259G>A	uc004eso.2	-	c.759C>T	c.(757-759)CTC>CTT	p.L253L	FAM70A_uc004esp.2_Silent_p.L229L|FAM70A_uc010nqo.1_Silent_p.L145L	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	253						integral to membrane				lung(1)|breast(1)	2														0.257576	39.139877	42.658828	17	49	GG		KEEP	---	---	---	---	capture			Silent	SNP	119286259	119286259	5828	23	G	A	A	41	41	FAM70A	A	2	2
FAM70A	55026	broad.mit.edu	36	X	119311875	119311875	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119311875C>A	uc004eso.2	-	c.261G>T	c.(259-261)CAG>CAT	p.Q87H	FAM70A_uc004esp.2_Missense_Mutation_p.Q87H|FAM70A_uc010nqo.1_Missense_Mutation_p.Q87H	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	87						integral to membrane				lung(1)|breast(1)	2														0.558011	286.867896	287.395117	101	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119311875	119311875	5828	23	C	A	A	32	32	FAM70A	A	3	3
LAMP2	3920	broad.mit.edu	36	X	119466864	119466864	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119466864A>G	uc004ess.2	-	c.545T>C	c.(544-546)GTG>GCG	p.V182A	LAMP2_uc004est.2_Missense_Mutation_p.V182A|LAMP2_uc010nqp.1_Missense_Mutation_p.V182A	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2 isoform	182	Lumenal (Potential).|First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1														0.308901	161.560358	167.772716	59	132	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119466864	119466864	8941	23	A	G	G	6	6	LAMP2	G	4	4
LAMP2	3920	broad.mit.edu	36	X	119473337	119473337	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119473337C>T	uc004ess.2	-	c.300G>A	c.(298-300)GCG>GCA	p.A100A	LAMP2_uc004est.2_Silent_p.A100A|LAMP2_uc010nqp.1_Silent_p.A100A	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2 isoform	100	Lumenal (Potential).|First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1														0.2723	141.352181	151.311296	58	155	CC		KEEP	---	---	---	---	capture			Silent	SNP	119473337	119473337	8941	23	C	T	T	31	31	LAMP2	T	1	1
CUL4B	8450	broad.mit.edu	36	X	119556088	119556088	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119556088G>A	uc004esw.1	-	c.1911C>T	c.(1909-1911)TGC>TGT	p.C637C	CUL4B_uc010nqq.1_Silent_p.C336C|CUL4B_uc004esv.1_Silent_p.C619C	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	637					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3														0.289474	104.328363	110.373448	44	108	GG		KEEP	---	---	---	---	capture			Silent	SNP	119556088	119556088	4218	23	G	A	A	38	38	CUL4B	A	1	1
MCTS1	28985	broad.mit.edu	36	X	119623346	119623346	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119623346A>C	uc004esx.1	+	c.68A>C	c.(67-69)AAG>ACG	p.K23T		NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	23					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0														0.271386	242.139934	258.124584	92	247	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119623346	119623346	9791	23	A	C	C	3	3	MCTS1	C	4	4
MCTS1	28985	broad.mit.edu	36	X	119623996	119623996	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119623996G>A	uc004esx.1	+	c.199G>A	c.(199-201)GAA>AAA	p.E67K		NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	67					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0														0.282051	115.440022	122.094633	44	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119623996	119623996	9791	23	G	A	A	33	33	MCTS1	A	2	2
MCTS1	28985	broad.mit.edu	36	X	119626107	119626107	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119626107G>A	uc004esx.1	+	c.263_splice	c.e4-1	p.Y88_splice		NM_014060	NP_054779			malignant T cell amplified sequence 1 isoform 1						cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0														0.573171	152.233216	152.615386	47	35	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	119626107	119626107	9791	23	G	A	A	33	33	MCTS1	A	5	2
C1GALT1C1	29071	broad.mit.edu	36	X	119644991	119644991	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119644991G>T	uc004esy.1	-	c.59C>A	c.(58-60)GCT>GAT	p.A20D	C1GALT1C1_uc004esz.1_Missense_Mutation_p.A20D|C1GALT1C1_uc010nqr.1_Missense_Mutation_p.A20D	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	20	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane					0														0.25	132.210517	144.716051	55	165	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119644991	119644991	2020	23	G	T	T	34	34	C1GALT1C1	T	3	3
GLUD2	2747	broad.mit.edu	36	X	120010205	120010205	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:120010205C>A	uc004eto.1	+	c.986C>A	c.(985-987)GCT>GAT	p.A329D		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	329					glutamate biosynthetic process|glutamate catabolic process|oxidation-reduction process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)									0.300505	299.35228	313.442937	119	277	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120010205	120010205	6745	23	C	A	A	28	28	GLUD2	A	3	3
GRIA3	2892	broad.mit.edu	36	X	122215072	122215072	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:122215072G>A	uc004etq.2	+	c.506G>A	c.(505-507)CGA>CAA	p.R169Q	GRIA3_uc004etr.2_Missense_Mutation_p.R169Q|GRIA3_uc004ets.2_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	169	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|pancreas(1)	4					L-Glutamic Acid(DB00142)					217				0.263158	107.993011	116.671913	45	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122215072	122215072	7047	23	G	A	A	37	37	GRIA3	A	1	1
GRIA3	2892	broad.mit.edu	36	X	122364945	122364945	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:122364945C>T	uc004etq.2	+	c.1187C>T	c.(1186-1188)GCT>GTT	p.A396V	GRIA3_uc004etr.2_Missense_Mutation_p.A396V|GRIA3_uc004ets.2_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	396	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|pancreas(1)	4					L-Glutamic Acid(DB00142)					217				0.223913	231.759357	264.010253	103	357	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122364945	122364945	7047	23	C	T	T	28	28	GRIA3	T	2	2
THOC2	57187	broad.mit.edu	36	X	122585389	122585389	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:122585389C>T	uc004etu.1	-	c.3433G>A	c.(3433-3435)GAA>AAA	p.E1145K	THOC2_uc004ett.1_Missense_Mutation_p.E1030K|THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2 isoform 1	1145					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														0.244186	144.881672	160.281185	63	195	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122585389	122585389	16393	23	C	T	T	30	30	THOC2	T	2	2
THOC2	57187	broad.mit.edu	36	X	122629824	122629824	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:122629824A>C	uc004etu.1	-	c.884T>G	c.(883-885)ATT>AGT	p.I295S	THOC2_uc004ett.1_Missense_Mutation_p.I180S	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2 isoform 1	295	Potential.				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														0.304687	249.873867	258.574229	78	178	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122629824	122629824	16393	23	A	C	C	4	4	THOC2	C	4	4
THOC2	57187	broad.mit.edu	36	X	122659273	122659273	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:122659273G>C	uc004etu.1	-	c.284C>G	c.(283-285)ACA>AGA	p.T95R	THOC2_uc004ett.1_5'UTR	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2 isoform 1	95					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														0.714286	38.556492	39.133482	10	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122659273	122659273	16393	23	G	C	C	48	48	THOC2	C	3	3
STAG2	10735	broad.mit.edu	36	X	122984174	122984174	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:122984174G>T	uc004eua.1	+	c.16G>T	c.(16-18)GAA>TAA	p.E6*	STAG2_uc004etz.2_Nonsense_Mutation_p.E6*|STAG2_uc004eub.1_Nonsense_Mutation_p.E6*|STAG2_uc004euc.1_Nonsense_Mutation_p.E6*|STAG2_uc004eud.1_Nonsense_Mutation_p.E6*|STAG2_uc004eue.1_Nonsense_Mutation_p.E6*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform a	6					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5														0.264368	50.36865	54.749727	23	64	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	122984174	122984174	15761	23	G	T	T	33	33	STAG2	T	5	3
ODZ1	10178	broad.mit.edu	36	X	123382193	123382193	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:123382193G>T	uc010nqy.1	-	c.4631C>A	c.(4630-4632)GCT>GAT	p.A1544D	ODZ1_uc004euj.1_Missense_Mutation_p.A1537D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1	1537	YD 1.|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)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.26776	108.970633	117.901122	49	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123382193	123382193	11239	23	G	T	T	34	34	ODZ1	T	3	3
ODZ1	10178	broad.mit.edu	36	X	123615179	123615179	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:123615179G>T	uc010nqy.1	-	c.1304C>A	c.(1303-1305)TCT>TAT	p.S435Y	ODZ1_uc004euj.1_Missense_Mutation_p.S435Y	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1	435	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)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22									p.S435F(KYSE410-Tumor)	623				0.581921	585.833829	587.895859	206	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123615179	123615179	11239	23	G	T	T	33	33	ODZ1	T	3	3
ODZ1	10178	broad.mit.edu	36	X	123615296	123615296	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:123615296G>A	uc010nqy.1	-	c.1187C>T	c.(1186-1188)GCG>GTG	p.A396V	ODZ1_uc004euj.1_Missense_Mutation_p.A396V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1	396	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)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.333333	193.068923	199.120646	82	164	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123615296	123615296	11239	23	G	A	A	38	38	ODZ1	A	1	1
DCAF12L1	139170	broad.mit.edu	36	X	125512984	125512984	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:125512984G>A	uc004eul.1	-	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V	DCAF12L1_uc010nqz.1_Missense_Mutation_p.A430V	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	WD repeat domain 40B	430										skin(3)	3														0.315436	228.915538	237.96196	94	204	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125512984	125512984	4435	23	G	A	A	38	38	DCAF12L1	A	1	1
DCAF12L1	139170	broad.mit.edu	36	X	125513592	125513592	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:125513592G>A	uc004eul.1	-	c.681C>T	c.(679-681)TTC>TTT	p.F227F	DCAF12L1_uc010nqz.1_Silent_p.F227F	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	WD repeat domain 40B	227	WD 2.									skin(3)	3														0.316832	79.052498	82.072619	32	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	125513592	125513592	4435	23	G	A	A	37	37	DCAF12L1	A	1	1
DCAF12L1	139170	broad.mit.edu	36	X	125514059	125514059	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:125514059C>T	uc004eul.1	-	c.214G>A	c.(214-216)GAT>AAT	p.D72N	DCAF12L1_uc010nqz.1_Missense_Mutation_p.D72N	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	WD repeat domain 40B	72										skin(3)	3														0.251799	78.172933	85.943713	35	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125514059	125514059	4435	23	C	T	T	31	31	DCAF12L1	T	1	1
FRMPD4	9758	broad.mit.edu	36	X	12644556	12644556	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:12644556G>A	uc004cuz.1	+	c.2057G>A	c.(2056-2058)AGA>AAA	p.R686K		NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	686					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13														0.253112	299.6108	326.29373	122	360	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12644556	12644556	6309	23	G	A	A	33	33	FRMPD4	A	2	2
ACTRT1	139741	broad.mit.edu	36	X	127013019	127013019	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:127013019A>G	uc004eum.1	-	c.848T>C	c.(847-849)ATC>ACC	p.I283T		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	283						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)	4														0.523529	603.769329	603.929105	178	162	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127013019	127013019	219	23	A	G	G	12	12	ACTRT1	G	4	4
ACTRT1	139741	broad.mit.edu	36	X	127013639	127013639	+	Silent	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:127013639A>G	uc004eum.1	-	c.228T>C	c.(226-228)CGT>CGC	p.R76R		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	76						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)	4														0.625	975.065904	981.4439	290	174	AA		KEEP	---	---	---	---	capture			Silent	SNP	127013639	127013639	219	23	A	G	G	6	6	ACTRT1	G	4	4
TLR7	51284	broad.mit.edu	36	X	12815669	12815669	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:12815669C>T	uc004cvc.1	+	c.2121C>T	c.(2119-2121)AGC>AGT	p.S707S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	707	LRR 24.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(1)	1					Imiquimod(DB00724)					69				0.21875	132.153925	153.162795	63	225	CC		KEEP	---	---	---	---	capture			Silent	SNP	12815669	12815669	16486	23	C	T	T	26	26	TLR7	T	2	2
TLR7	51284	broad.mit.edu	36	X	12816043	12816043	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:12816043C>T	uc004cvc.1	+	c.2495C>T	c.(2494-2496)ACC>ATC	p.T832I		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	832	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(1)	1					Imiquimod(DB00724)					69				0.276451	192.437902	205.627436	81	212	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12816043	12816043	16486	23	C	T	T	18	18	TLR7	T	2	2
TLR7	51284	broad.mit.edu	36	X	12816251	12816251	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:12816251C>T	uc004cvc.1	+	c.2703C>T	c.(2701-2703)GAC>GAT	p.D901D		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	901	TIR.|Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(1)	1					Imiquimod(DB00724)					69				0.25187	237.615402	260.02358	101	300	CC		KEEP	---	---	---	---	capture			Silent	SNP	12816251	12816251	16486	23	C	T	T	18	18	TLR7	T	2	2
TLR7	51284	broad.mit.edu	36	X	12816580	12816580	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:12816580C>T	uc004cvc.1	+	c.3032C>T	c.(3031-3033)TCT>TTT	p.S1011F		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1011	TIR.|Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(1)	1					Imiquimod(DB00724)					69				0.601367	832.956461	836.899192	264	175	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12816580	12816580	16486	23	C	T	T	32	32	TLR7	T	2	2
SMARCA1	6594	broad.mit.edu	36	X	128427520	128427520	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128427520C>A	uc004eun.2	-	c.2799G>T	c.(2797-2799)AAG>AAT	p.K933N	SMARCA1_uc004eup.2_Missense_Mutation_p.K921N	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	933					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of gene-specific transcription|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding|transcription regulator activity			ovary(3)|skin(1)	4														0.212698	134.236755	158.283102	67	248	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128427520	128427520	15266	23	C	A	A	32	32	SMARCA1	A	3	3
TLR8	51311	broad.mit.edu	36	X	12848494	12848494	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:12848494C>T	uc004cvd.1	+	c.1468C>T	c.(1468-1470)CGT>TGT	p.R490C	TLR8_uc004cve.1_Missense_Mutation_p.R472C	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8	472	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane|integral to membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|large_intestine(1)	5														0.247748	135.61465	148.469639	55	167	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12848494	12848494	16487	23	C	T	T	23	23	TLR8	T	1	1
OCRL	4952	broad.mit.edu	36	X	128551520	128551520	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128551520G>A	uc004euq.1	+	c.2487G>A	c.(2485-2487)CCG>CCA	p.P829P	OCRL_uc004eur.1_Silent_p.P821P|OCRL_uc010nrb.1_Intron	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	829	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			lung(2)|ovary(1)|kidney(1)	4														0.311404	178.640358	185.863121	71	157	GG		KEEP	---	---	---	---	capture			Silent	SNP	128551520	128551520	11228	23	G	A	A	37	37	OCRL	A	1	1
XPNPEP2	7512	broad.mit.edu	36	X	128724396	128724396	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128724396A>G	uc004eut.1	+	c.1709A>G	c.(1708-1710)GAT>GGT	p.D570G		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	570					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0														0.555556	202.204518	202.494635	60	48	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128724396	128724396	18026	23	A	G	G	12	12	XPNPEP2	G	4	4
XPNPEP2	7512	broad.mit.edu	36	X	128729323	128729323	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128729323G>A	uc004eut.1	+	c.1804G>A	c.(1804-1806)GAT>AAT	p.D602N		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	602					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0														0.545	321.076387	321.42765	109	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128729323	128729323	18026	23	G	A	A	37	37	XPNPEP2	A	1	1
BCORL1	63035	broad.mit.edu	36	X	128976505	128976505	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128976505G>A	uc004evb.1	+	c.2076G>A	c.(2074-2076)GAG>GAA	p.E692E	BCORL1_uc010nrc.1_Silent_p.E594E|BCORL1_uc010nrd.1_Silent_p.E594E	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	692					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.207317	74.95561	87.976411	34	130	GG		KEEP	---	---	---	---	capture			Silent	SNP	128976505	128976505	1408	23	G	A	A	33	33	BCORL1	A	2	2
BCORL1	63035	broad.mit.edu	36	X	128977046	128977046	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128977046C>T	uc004evb.1	+	c.2617C>T	c.(2617-2619)CCA>TCA	p.P873S	BCORL1_uc010nrc.1_Missense_Mutation_p.P775S|BCORL1_uc010nrd.1_Missense_Mutation_p.P775S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	873					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.657459	362.999404	366.999201	119	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128977046	128977046	1408	23	C	T	T	26	26	BCORL1	T	2	2
BCORL1	63035	broad.mit.edu	36	X	128986989	128986989	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128986989G>A	uc004evb.1	+	c.4032G>A	c.(4030-4032)GAG>GAA	p.E1344E	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Silent_p.E106E	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1344					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.180328	42.377629	54.101588	22	100	GG		KEEP	---	---	---	---	capture			Silent	SNP	128986989	128986989	1408	23	G	A	A	36	36	BCORL1	A	2	2
BCORL1	63035	broad.mit.edu	36	X	129017666	129017666	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129017666G>A	uc004evb.1	+	c.5010G>A	c.(5008-5010)GAG>GAA	p.E1670E	BCORL1_uc004evc.1_Silent_p.E506E	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1670					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.285714	165.6297	175.738682	70	175	GG		KEEP	---	---	---	---	capture			Silent	SNP	129017666	129017666	1408	23	G	A	A	33	33	BCORL1	A	2	2
ELF4	2000	broad.mit.edu	36	X	129028792	129028792	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129028792C>A	uc004evd.2	-	c.1577G>T	c.(1576-1578)AGG>ATG	p.R526M	ELF4_uc004eve.2_Missense_Mutation_p.R526M	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	526					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(1)	1										86				0.243243	76.322994	85.222285	36	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129028792	129028792	5247	23	C	A	A	24	24	ELF4	A	3	3
TMSL3	7117	broad.mit.edu	36	X	12904348	12904348	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:12904348C>T	uc004cvf.1	+	c.47C>T	c.(46-48)TCG>TTG	p.S16L		NM_021109	NP_066932	A8MW06	TMSL3_HUMAN	thymosin, beta 4	16					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding				0		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)												0.360947	160.524435	163.402119	61	108	CC		KEEP	---	---	---	---	capture		Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)	Missense_Mutation	SNP	12904348	12904348	16800	23	C	T	T	31	31	TMSL3	T	1	1
AIFM1	9131	broad.mit.edu	36	X	129109431	129109431	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129109431G>A	uc004evg.1	-	c.451C>T	c.(451-453)CGG>TGG	p.R151W	AIFM1_uc004evh.1_Missense_Mutation_p.R147W|AIFM1_uc004evi.1_Intron|AIFM1_uc004evj.1_Non-coding_Transcript|AIFM1_uc004evk.1_Non-coding_Transcript	NM_004208	NP_004199	O95831	AIFM1_HUMAN	programmed cell death 8 isoform 1	151	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|oxidation-reduction process	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(4)|central_nervous_system(1)	5										210				0.243446	148.015531	164.064614	65	202	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129109431	129109431	429	23	G	A	A	39	39	AIFM1	A	1	1
GPR119	139760	broad.mit.edu	36	X	129346960	129346960	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129346960G>A	uc004evs.1	-	c.143C>T	c.(142-144)GCT>GTT	p.A48V		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	48	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	lipid binding			ovary(2)	2										30				0.263158	262.467344	282.729986	105	294	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129346960	129346960	6908	23	G	A	A	34	34	GPR119	A	2	2
RBMX2	51634	broad.mit.edu	36	X	129374336	129374336	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129374336G>A	uc004evt.1	+	c.802G>A	c.(802-804)GAC>AAC	p.D268N		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	268	Arg-rich.						nucleotide binding|RNA binding			breast(3)|ovary(1)	4														0.164062	37.089368	50.814269	21	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129374336	129374336	13614	23	G	A	A	41	41	RBMX2	A	2	2
ARHGAP36	158763	broad.mit.edu	36	X	130047362	130047362	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:130047362G>A	uc004evz.1	+	c.1075G>A	c.(1075-1077)GAG>AAG	p.E359K	ARHGAP36_uc004ewa.1_Missense_Mutation_p.E347K|ARHGAP36_uc004ewb.1_Missense_Mutation_p.E328K|ARHGAP36_uc004ewc.1_Missense_Mutation_p.E223K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763	359	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3														0.278689	369.720257	393.924291	153	396	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130047362	130047362	895	23	G	A	A	37	37	ARHGAP36	A	1	1
IGSF1	3547	broad.mit.edu	36	X	130239577	130239577	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:130239577T>C	uc004ewd.1	-	c.2254A>G	c.(2254-2256)ACT>GCT	p.T752A	IGSF1_uc004ewf.1_Missense_Mutation_p.T732A|IGSF1_uc010nri.1_Missense_Mutation_p.T741A|IGSF1_uc004ewe.2_Missense_Mutation_p.T746A	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	752	Extracellular (Potential).|Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.564103	270.200547	270.762027	88	68	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130239577	130239577	7897	23	T	C	C	59	59	IGSF1	C	4	4
IGSF1	3547	broad.mit.edu	36	X	130240151	130240151	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:130240151G>A	uc004ewd.1	-	c.2006C>T	c.(2005-2007)TCG>TTG	p.S669L	IGSF1_uc004ewf.1_Missense_Mutation_p.S649L|IGSF1_uc010nri.1_Missense_Mutation_p.S658L|IGSF1_uc004ewe.2_Missense_Mutation_p.S663L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	669	Extracellular (Potential).|Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.271062	172.828396	185.737016	74	199	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130240151	130240151	7897	23	G	A	A	37	37	IGSF1	A	1	1
IGSF1	3547	broad.mit.edu	36	X	130242905	130242905	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:130242905C>T	uc004ewd.1	-	c.1614G>A	c.(1612-1614)TGG>TGA	p.W538*	IGSF1_uc004ewf.1_Nonsense_Mutation_p.W518*|IGSF1_uc010nri.1_Nonsense_Mutation_p.W527*|IGSF1_uc004ewe.2_Nonsense_Mutation_p.W527*	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	538	Helical; (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.279703	281.98605	299.627333	113	291	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	130242905	130242905	7897	23	C	T	T	30	30	IGSF1	T	5	2
IGSF1	3547	broad.mit.edu	36	X	130244744	130244744	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:130244744G>T	uc004ewd.1	-	c.843C>A	c.(841-843)TTC>TTA	p.F281L	IGSF1_uc004ewf.1_Missense_Mutation_p.F261L|IGSF1_uc010nri.1_Missense_Mutation_p.F270L|IGSF1_uc004ewe.2_Missense_Mutation_p.F270L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	281	Ig-like C2-type 3.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.246512	114.164635	126.748002	53	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130244744	130244744	7897	23	G	T	T	33	33	IGSF1	T	3	3
OR13H1	347468	broad.mit.edu	36	X	130506268	130506268	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:130506268T>G	uc004ewh.1	+	c.540T>G	c.(538-540)ATT>ATG	p.I180M	IGSF1_uc004ewf.1_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Acute lymphoblastic leukemia(192;0.000636)													0.281179	355.506891	374.49591	124	317	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130506268	130506268	11349	23	T	G	G	62	62	OR13H1	G	4	4
MST4	51765	broad.mit.edu	36	X	131030023	131030023	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131030023G>A	uc004ewk.1	+	c.430G>A	c.(430-432)GAC>AAC	p.D144N	MST4_uc004ewl.1_Missense_Mutation_p.D67N|MST4_uc010nrj.1_Missense_Mutation_p.D144N|MST4_uc004ewm.1_Missense_Mutation_p.D144N	NM_016542	NP_057626	Q9P289	MST4_HUMAN	serine/threonine protein kinase MST4 isoform 1	144	Protein kinase.	Proton acceptor (By similarity).			cellular component disassembly involved in apoptosis|protein phosphorylation|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	6	Acute lymphoblastic leukemia(192;0.000127)									51				0.325123	176.468213	181.983213	66	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131030023	131030023	10285	23	G	A	A	33	33	MST4	A	2	2
FRMD7	90167	broad.mit.edu	36	X	131055778	131055778	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131055778C>T	uc004ewn.1	-	c.355G>A	c.(355-357)GCG>ACG	p.A119T		NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	nystagmus 1 protein	119	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.247423	176.647468	193.549452	72	219	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131055778	131055778	6305	23	C	T	T	28	28	FRMD7	T	2	2
MBNL3	55796	broad.mit.edu	36	X	131401310	131401310	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131401310A>G	uc004ewv.2	-	c.11T>C	c.(10-12)GTC>GCC	p.V4A	MBNL3_uc004eww.1_Intron|MBNL3_uc004ewu.2_Missense_Mutation_p.V4A|MBNL3_uc010nrl.1_Non-coding_Transcript	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN	muscleblind-like 3 isoform G	4					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.606952	719.465892	723.195223	227	147	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131401310	131401310	9743	23	A	G	G	10	10	MBNL3	G	4	4
HS6ST2	90161	broad.mit.edu	36	X	131590368	131590368	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131590368G>A	uc004ewy.1	-	c.1502C>T	c.(1501-1503)ACC>ATC	p.T501I	HS6ST2_uc004ewz.1_Missense_Mutation_p.T461I	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	461	Lumenal (Potential).				carbohydrate biosynthetic process	integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.234177	158.471365	178.921773	74	242	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131590368	131590368	7665	23	G	A	A	44	44	HS6ST2	A	2	2
HS6ST2	90161	broad.mit.edu	36	X	131918645	131918645	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131918645C>T	uc004ewy.1	-	c.820G>A	c.(820-822)GAA>AAA	p.E274K	HS6ST2_uc004ewz.1_Missense_Mutation_p.E274K	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	274	Lumenal (Potential).				carbohydrate biosynthetic process	integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.34375	23.529191	24.260202	11	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131918645	131918645	7665	23	C	T	T	30	30	HS6ST2	T	2	2
HS6ST2	90161	broad.mit.edu	36	X	131918800	131918800	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131918800T>C	uc004ewy.1	-	c.665A>G	c.(664-666)GAC>GGC	p.D222G	HS6ST2_uc004ewz.1_Missense_Mutation_p.D222G	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	222	Lumenal (Potential).				carbohydrate biosynthetic process	integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.297619	71.32952	74.415215	25	59	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131918800	131918800	7665	23	T	C	C	58	58	HS6ST2	C	4	4
HS6ST2	90161	broad.mit.edu	36	X	131918964	131918964	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131918964G>A	uc004ewy.1	-	c.501C>T	c.(499-501)ATC>ATT	p.I167I	HS6ST2_uc004ewz.1_Silent_p.I167I	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	167	Lumenal (Potential).				carbohydrate biosynthetic process	integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.340426	41.384489	42.442851	16	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	131918964	131918964	7665	23	G	A	A	37	37	HS6ST2	A	1	1
USP26	83844	broad.mit.edu	36	X	131988484	131988484	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131988484T>G	uc010nrm.1	-	c.1431A>C	c.(1429-1431)TCA>TCC	p.S477S	USP26_uc004exa.1_Silent_p.S477S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	477					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			central_nervous_system(3)|kidney(1)|liver(1)	5	Acute lymphoblastic leukemia(192;0.000127)					NSCLC(104;342 1621 36940 47097 52632)								0.291667	402.615928	419.384752	126	306	TT		KEEP	---	---	---	---	capture			Silent	SNP	131988484	131988484	17620	23	T	G	G	51	51	USP26	G	4	4
USP26	83844	broad.mit.edu	36	X	131988725	131988725	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131988725T>C	uc010nrm.1	-	c.1190A>G	c.(1189-1191)AAC>AGC	p.N397S	USP26_uc004exa.1_Missense_Mutation_p.N397S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	397					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			central_nervous_system(3)|kidney(1)|liver(1)	5	Acute lymphoblastic leukemia(192;0.000127)					NSCLC(104;342 1621 36940 47097 52632)								0.279528	212.134583	223.225167	71	183	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131988725	131988725	17620	23	T	C	C	60	60	USP26	C	4	4
USP26	83844	broad.mit.edu	36	X	131989480	131989480	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131989480C>T	uc010nrm.1	-	c.435G>A	c.(433-435)GAG>GAA	p.E145E	USP26_uc004exa.1_Silent_p.E145E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	145					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			central_nervous_system(3)|kidney(1)|liver(1)	5	Acute lymphoblastic leukemia(192;0.000127)					NSCLC(104;342 1621 36940 47097 52632)								0.330935	130.199739	133.722031	46	93	CC		KEEP	---	---	---	---	capture			Silent	SNP	131989480	131989480	17620	23	C	T	T	32	32	USP26	T	2	2
USP26	83844	broad.mit.edu	36	X	131989565	131989565	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131989565C>T	uc010nrm.1	-	c.350G>A	c.(349-351)AGT>AAT	p.S117N	USP26_uc004exa.1_Missense_Mutation_p.S117N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	117					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			central_nervous_system(3)|kidney(1)|liver(1)	5	Acute lymphoblastic leukemia(192;0.000127)					NSCLC(104;342 1621 36940 47097 52632)								0.304687	101.374655	105.732346	39	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131989565	131989565	17620	23	C	T	T	20	20	USP26	T	2	2
USP26	83844	broad.mit.edu	36	X	131989867	131989867	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:131989867C>A	uc010nrm.1	-	c.48G>T	c.(46-48)AAG>AAT	p.K16N	USP26_uc004exa.1_Missense_Mutation_p.K16N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	16					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			central_nervous_system(3)|kidney(1)|liver(1)	5	Acute lymphoblastic leukemia(192;0.000127)					NSCLC(104;342 1621 36940 47097 52632)								0.528736	259.685886	259.809377	92	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131989867	131989867	17620	23	C	A	A	32	32	USP26	A	3	3
GPC4	2239	broad.mit.edu	36	X	132266459	132266459	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:132266459C>T	uc004exc.1	-	c.1252G>A	c.(1252-1254)GGC>AGC	p.G418S		NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4	418					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.222591	161.068293	182.372051	67	234	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	132266459	132266459	6874	23	C	T	T	23	23	GPC4	T	1	1
ATXN3L	92552	broad.mit.edu	36	X	13247186	13247186	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:13247186C>T	uc010ned.1	-	c.789G>A	c.(787-789)TCG>TCA	p.S263S		NR_003585		Q9H3M9	ATX3L_HUMAN	Putative ataxin-3-like protein (EC 3.4.22.-) (Machado-Joseph disease protein 1-like).	263					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			ovary(2)|large_intestine(1)|skin(1)	4														0.259887	417.38936	454.352305	184	524	CC		KEEP	---	---	---	---	capture			Silent	SNP	13247186	13247186	1234	23	C	T	T	27	27	ATXN3L	T	1	1
PHF6	84295	broad.mit.edu	36	X	133378996	133378996	+	Nonsense_Mutation	SNP	C	G	G			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:133378996C>G	uc004exj.1	+	c.966C>G	c.(964-966)TAC>TAG	p.Y322*	PHF6_uc004exi.2_Nonsense_Mutation_p.Y323*|PHF6_uc004exk.1_Nonsense_Mutation_p.Y322*	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	322	PHD-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					Colon(100;666 1493 6344 21231 35807)								0.277311	101.022882	106.333398	33	86	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	133378996	133378996	12261	23	C	G	G	17	17	PHF6	G	5	3
FAM122B	159090	broad.mit.edu	36	X	133757862	133757862	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:133757862T>C	uc004exq.1	-	c.40A>G	c.(40-42)ACA>GCA	p.T14A	FAM122B_uc004exr.1_Missense_Mutation_p.T14A|FAM122B_uc004exs.1_Missense_Mutation_p.T14A|FAM122B_uc004ext.1_5'Flank|FAM122B_uc004exu.1_Non-coding_Transcript|FAM122B_uc004exv.1_Missense_Mutation_p.T14A|FAM122C_uc010nru.1_5'Flank	NM_145284	NP_660327	Q7Z309	F122B_HUMAN	hypothetical protein LOC159090	14											0	Acute lymphoblastic leukemia(192;0.000127)													0.244898	115.220015	126.83065	48	148	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	133757862	133757862	5617	23	T	C	C	59	59	FAM122B	C	4	4
FAM127B	26071	broad.mit.edu	36	X	134013727	134013727	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134013727C>T	uc004eyf.1	-	c.78G>A	c.(76-78)CCG>CCA	p.P26P	FAM127B_uc004eyg.2_Non-coding_Transcript	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	26											0	Acute lymphoblastic leukemia(192;0.000127)													0.296117	144.179265	151.849388	61	145	CC		KEEP	---	---	---	---	capture			Silent	SNP	134013727	134013727	5629	23	C	T	T	31	31	FAM127B	T	1	1
CXorf48	54967	broad.mit.edu	36	X	134119879	134119879	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134119879A>C	uc004eyk.1	-	c.448T>G	c.(448-450)TTG>GTG	p.L150V	CXorf48_uc004eyl.1_Missense_Mutation_p.L150V	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	hypothetical protein LOC54967 isoform 1	150											0	Acute lymphoblastic leukemia(192;0.000127)													0.277778	69.987724	74.799218	30	78	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134119879	134119879	4272	23	A	C	C	3	3	CXorf48	C	4	4
ZNF75D	7626	broad.mit.edu	36	X	134248740	134248740	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134248740T>G	uc010nrx.1	-	c.1528A>C	c.(1528-1530)AAC>CAC	p.N510H	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.1_Missense_Mutation_p.N289H|ZNF75D_uc004eyo.1_Missense_Mutation_p.N415H|ZNF75D_uc004eyp.1_Missense_Mutation_p.N510H	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	510					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.226721	158.097163	175.01004	56	191	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134248740	134248740	18732	23	T	G	G	64	64	ZNF75D	G	4	4
ZNF75D	7626	broad.mit.edu	36	X	134249229	134249229	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134249229C>A	uc010nrx.1	-	c.1039G>T	c.(1039-1041)GAG>TAG	p.E347*	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.1_Nonsense_Mutation_p.E126*|ZNF75D_uc004eyo.1_Nonsense_Mutation_p.E252*|ZNF75D_uc004eyp.1_Nonsense_Mutation_p.E347*	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	347					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.24735	144.176089	160.650475	70	213	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	134249229	134249229	18732	23	C	A	A	32	32	ZNF75D	A	5	3
ZNF75D	7626	broad.mit.edu	36	X	134255328	134255328	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134255328C>A	uc010nrx.1	-	c.405G>T	c.(403-405)AAG>AAT	p.K135N	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.1_5'Flank|ZNF75D_uc004eyo.1_Missense_Mutation_p.K135N|ZNF75D_uc004eyp.1_Missense_Mutation_p.K135N	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	135					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.238411	155.625427	174.520852	72	230	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134255328	134255328	18732	23	C	A	A	32	32	ZNF75D	A	3	3
ZNF75D	7626	broad.mit.edu	36	X	134255700	134255700	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134255700G>A	uc010nrx.1	-	c.33C>T	c.(31-33)TGC>TGT	p.C11C	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.1_5'Flank|ZNF75D_uc004eyo.1_Silent_p.C11C|ZNF75D_uc004eyp.1_Silent_p.C11C	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	11					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.320611	333.487614	344.735604	126	267	GG		KEEP	---	---	---	---	capture			Silent	SNP	134255700	134255700	18732	23	G	A	A	34	34	ZNF75D	A	2	2
ZNF449	203523	broad.mit.edu	36	X	134310900	134310900	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134310900A>G	uc004eys.1	+	c.554A>G	c.(553-555)GAC>GGC	p.D185G	ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.1_Missense_Mutation_p.D65G	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	185					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.305882	147.414974	153.143179	52	118	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134310900	134310900	18513	23	A	G	G	10	10	ZNF449	G	4	4
DDX26B	203522	broad.mit.edu	36	X	134534611	134534611	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134534611G>T	uc004eyw.2	+	c.1493G>T	c.(1492-1494)GGG>GTG	p.G498V	DDX26B_uc004eyx.2_Missense_Mutation_p.G99V	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	498											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.292308	91.541045	96.539347	38	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134534611	134534611	4524	23	G	T	T	43	43	DDX26B	T	3	3
DDX26B	203522	broad.mit.edu	36	X	134541743	134541743	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134541743G>A	uc004eyw.2	+	c.2373G>A	c.(2371-2373)AAG>AAA	p.K791K	DDX26B_uc004eyx.2_Silent_p.K392K	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	791											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.14	17.971952	30.507717	14	86	GG		KEEP	---	---	---	---	capture			Silent	SNP	134541743	134541743	4524	23	G	A	A	36	36	DDX26B	A	2	2
SAGE1	55511	broad.mit.edu	36	X	134816283	134816283	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134816283C>T	uc004ezh.1	+	c.643C>T	c.(643-645)CAA>TAA	p.Q215*	SAGE1_uc010nry.1_Nonsense_Mutation_p.Q184*	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	215										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.339667	395.653814	405.241392	143	278	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	134816283	134816283	14289	23	C	T	T	21	21	SAGE1	T	5	2
SLC9A6	10479	broad.mit.edu	36	X	134895499	134895499	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134895499G>A	uc004ezk.1	+	c.172G>A	c.(172-174)GTG>ATG	p.V58M	SLC9A6_uc004ezj.1_Missense_Mutation_p.V58M	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	58					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.251852	74.302201	81.845271	34	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134895499	134895499	15215	23	G	A	A	40	40	SLC9A6	A	1	1
SLC9A6	10479	broad.mit.edu	36	X	134926508	134926508	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134926508C>A	uc004ezk.1	+	c.1275C>A	c.(1273-1275)ATC>ATA	p.I425I	SLC9A6_uc004ezj.1_Silent_p.I393I	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	393	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.554622	184.436114	184.742292	66	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	134926508	134926508	15215	23	C	A	A	32	32	SLC9A6	A	3	3
FHL1	2273	broad.mit.edu	36	X	135116933	135116933	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135116933G>A	uc004ezp.1	+	c.297G>A	c.(295-297)AAG>AAA	p.K99K	FHL1_uc010nrz.1_Silent_p.K83K|FHL1_uc004ezl.1_Silent_p.K83K|FHL1_uc004ezm.1_Intron|FHL1_uc004ezn.1_Silent_p.K83K|FHL1_uc004ezo.1_Silent_p.K83K|FHL1_uc004ezq.1_Silent_p.K83K|FHL1_uc004ezr.1_5'Flank	NM_001449	NP_001440	Q13642	FHL1_HUMAN	four and a half LIM domains 1	83	LIM zinc-binding 1.			VAKDNKILCNK -> CGQGQQRSCAQ (in Ref. 4; AAD21579).	cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.233898	174.835766	193.943623	69	226	GG		KEEP	---	---	---	---	capture			Silent	SNP	135116933	135116933	6116	23	G	A	A	35	35	FHL1	A	2	2
MAP7D3	79649	broad.mit.edu	36	X	135129449	135129449	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135129449G>A	uc004ezt.2	-	c.2534C>T	c.(2533-2535)GCG>GTG	p.A845V	MAP7D3_uc004ezs.2_Missense_Mutation_p.A809V|MAP7D3_uc010nsa.1_Missense_Mutation_p.A803V	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	845						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)													0.201521	100.016659	121.808608	53	210	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135129449	135129449	9652	23	G	A	A	38	38	MAP7D3	A	1	1
GPR112	139378	broad.mit.edu	36	X	135257459	135257459	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135257459C>T	uc004ezu.1	+	c.3928C>T	c.(3928-3930)CAC>TAC	p.H1310Y	GPR112_uc010nsb.1_Missense_Mutation_p.H1105Y|GPR112_uc010nsc.1_Missense_Mutation_p.H1077Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1310	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.129032	35.515524	68.77255	32	216	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135257459	135257459	6903	23	C	T	T	29	29	GPR112	T	2	2
GPR112	139378	broad.mit.edu	36	X	135257925	135257925	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135257925C>T	uc004ezu.1	+	c.4394C>T	c.(4393-4395)TCC>TTC	p.S1465F	GPR112_uc010nsb.1_Missense_Mutation_p.S1260F|GPR112_uc010nsc.1_Missense_Mutation_p.S1232F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1465	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.237785	167.329364	186.610385	73	234	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135257925	135257925	6903	23	C	T	T	30	30	GPR112	T	2	2
GPR112	139378	broad.mit.edu	36	X	135265951	135265951	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135265951G>A	uc004ezu.1	+	c.6888G>A	c.(6886-6888)AGG>AGA	p.R2296R	GPR112_uc010nsb.1_Silent_p.R2091R|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2296	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.242424	81.230217	89.218235	32	100	GG		KEEP	---	---	---	---	capture			Silent	SNP	135265951	135265951	6903	23	G	A	A	43	43	GPR112	A	2	2
GPR112	139378	broad.mit.edu	36	X	135269231	135269231	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135269231T>C	uc004ezu.1	+	c.7095T>C	c.(7093-7095)GAT>GAC	p.D2365D	GPR112_uc010nsb.1_Silent_p.D2160D|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2365	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.269231	180.449093	191.759386	63	171	TT		KEEP	---	---	---	---	capture			Silent	SNP	135269231	135269231	6903	23	T	C	C	50	50	GPR112	C	4	4
EGFL6	25975	broad.mit.edu	36	X	13531360	13531360	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:13531360C>A	uc004cvj.1	+	c.404C>A	c.(403-405)TCT>TAT	p.S135Y	EGFL6_uc004cvi.1_Missense_Mutation_p.S135Y	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	135					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2														0.297872	164.818245	173.427689	70	165	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13531360	13531360	5152	23	C	A	A	32	32	EGFL6	A	3	3
EGFL6	25975	broad.mit.edu	36	X	13534463	13534463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:13534463C>T	uc004cvj.1	+	c.565C>T	c.(565-567)CGA>TGA	p.R189*	EGFL6_uc004cvi.1_Nonsense_Mutation_p.R189*	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	189	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2														0.601942	560.384797	563.190345	186	123	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	13534463	13534463	5152	23	C	T	T	31	31	EGFL6	T	5	1
VGLL1	51442	broad.mit.edu	36	X	135445980	135445980	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135445980C>T	uc004ezy.1	+	c.135C>T	c.(133-135)TTC>TTT	p.F45F		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity|transcription regulator activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.237374	113.028365	125.505595	47	151	CC		KEEP	---	---	---	---	capture			Silent	SNP	135445980	135445980	17725	23	C	T	T	32	32	VGLL1	T	2	2
VGLL1	51442	broad.mit.edu	36	X	135458750	135458750	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135458750C>A	uc004ezy.1	+	c.551C>A	c.(550-552)TCT>TAT	p.S184Y		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity|transcription regulator activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.255882	190.435173	208.836503	87	253	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135458750	135458750	17725	23	C	A	A	32	32	VGLL1	A	3	3
RBMX	27316	broad.mit.edu	36	X	135784915	135784915	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135784915A>C	uc004fae.1	-	c.861T>G	c.(859-861)AGT>AGG	p.S287R	RBMX_uc004fad.1_Missense_Mutation_p.S287R|RBMX_uc004faf.1_Missense_Mutation_p.S148R|RBMX_uc010nsf.1_Missense_Mutation_p.S248R|RBMX_uc004fag.1_Missense_Mutation_p.S159R|RBMX_uc004fac.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	287					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.283379	298.359214	313.817318	104	263	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135784915	135784915	13613	23	A	C	C	2	2	RBMX	C	4	4
TCEANC	170082	broad.mit.edu	36	X	13590548	13590548	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:13590548G>A	uc010neg.1	+	c.90G>A	c.(88-90)AAG>AAA	p.K30K	TCEANC_uc010nee.1_5'UTR|TCEANC_uc010nef.1_5'UTR|TCEANC_uc004cvk.2_5'UTR|TCEANC_uc004cvl.2_Non-coding_Transcript	NM_152634	NP_689847	Q8N8B7	TEANC_HUMAN	TFIIS central domain-containing protein 1	Error:Variant_position_missing_in_Q8N8B7_after_alignment					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription elongation regulator activity			pancreas(1)	1														0.237209	127.70701	141.282594	51	164	GG		KEEP	---	---	---	---	capture			Silent	SNP	13590548	13590548	16204	23	G	A	A	33	33	TCEANC	A	2	2
OFD1	8481	broad.mit.edu	36	X	13679292	13679292	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:13679292C>T	uc004cvp.2	+	c.939C>T	c.(937-939)AAC>AAT	p.N313N	OFD1_uc004cvr.2_5'UTR|OFD1_uc004cvt.2_Non-coding_Transcript|OFD1_uc004cvq.2_Silent_p.N173N|OFD1_uc010nen.1_Silent_p.N312N|OFD1_uc004cvs.2_Intron|OFD1_uc004cvu.2_Intron|OFD1_uc004cvv.2_Intron|OFD1_uc010neo.1_Intron	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	313	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														0.225225	53.51118	61.216229	25	86	CC		KEEP	---	---	---	---	capture			Silent	SNP	13679292	13679292	11243	23	C	T	T	18	18	OFD1	T	2	2
OFD1	8481	broad.mit.edu	36	X	13688392	13688392	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:13688392C>A	uc004cvp.2	+	c.1892C>A	c.(1891-1893)ACT>AAT	p.T631N	OFD1_uc004cvr.2_Missense_Mutation_p.T198N|OFD1_uc004cvt.2_Non-coding_Transcript|OFD1_uc004cvq.2_Missense_Mutation_p.T491N|OFD1_uc010nen.1_Missense_Mutation_p.T630N|OFD1_uc004cvs.2_Non-coding_Transcript|OFD1_uc004cvu.2_Missense_Mutation_p.T590N|OFD1_uc004cvv.2_Missense_Mutation_p.T590N	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	631	Potential.|Mediates the interaction with SDCCAG8.|Mediates homooligomerization.				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														0.649038	419.563291	423.633207	135	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13688392	13688392	11243	23	C	A	A	20	20	OFD1	A	3	3
OFD1	8481	broad.mit.edu	36	X	13688738	13688738	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:13688738C>T	uc004cvp.2	+	c.2238C>T	c.(2236-2238)CTC>CTT	p.L746L	OFD1_uc004cvr.2_Silent_p.L313L|OFD1_uc004cvt.2_Non-coding_Transcript|OFD1_uc004cvq.2_Silent_p.L606L|OFD1_uc010nen.1_Silent_p.L745L|OFD1_uc004cvs.2_Non-coding_Transcript|OFD1_uc004cvu.2_Silent_p.L705L|OFD1_uc004cvv.2_Silent_p.L705L	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	746	Mediates the interaction with SDCCAG8.				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														0.634783	216.587192	218.421366	73	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	13688738	13688738	11243	23	C	T	T	31	31	OFD1	T	1	1
OFD1	8481	broad.mit.edu	36	X	13696254	13696254	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:13696254C>T	uc004cvp.2	+	c.2918C>T	c.(2917-2919)TCG>TTG	p.S973L	OFD1_uc004cvr.2_Missense_Mutation_p.S503L|OFD1_uc004cvt.2_Non-coding_Transcript|OFD1_uc004cvq.2_Missense_Mutation_p.S796L|OFD1_uc010nen.1_Missense_Mutation_p.S971L|OFD1_uc004cvs.2_Non-coding_Transcript|OFD1_uc004cvu.2_Missense_Mutation_p.S932L|OFD1_uc004cvv.2_Missense_Mutation_p.S931L	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	973	Mediates the interaction with SDCCAG8.				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														0.277457	114.76052	122.523566	48	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13696254	13696254	11243	23	C	T	T	31	31	OFD1	T	1	1
MCF2	4168	broad.mit.edu	36	X	138506517	138506517	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:138506517T>G	uc004faw.2	-	c.2314A>C	c.(2314-2316)AAA>CAA	p.K772Q	MCF2_uc004fau.2_Missense_Mutation_p.K712Q|MCF2_uc004fav.2_Missense_Mutation_p.K728Q|MCF2_uc010nsh.1_Missense_Mutation_p.K712Q|MCF2_uc010nsg.1_Missense_Mutation_p.K188Q	NM_001099855	NP_001093325	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	712	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)									693				0.322835	253.769118	260.843382	82	172	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138506517	138506517	9767	23	T	G	G	64	64	MCF2	G	4	4
MCF2	4168	broad.mit.edu	36	X	138514770	138514770	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:138514770G>T	uc004faw.2	-	c.1777C>A	c.(1777-1779)CTT>ATT	p.L593I	MCF2_uc004fau.2_Missense_Mutation_p.L533I|MCF2_uc004fav.2_Missense_Mutation_p.L549I|MCF2_uc010nsh.1_Missense_Mutation_p.L533I|MCF2_uc010nsg.1_Missense_Mutation_p.L9I	NM_001099855	NP_001093325	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	533	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)									693				0.246106	171.556839	190.409619	79	242	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138514770	138514770	9767	23	G	T	T	33	33	MCF2	T	3	3
CXorf66	347487	broad.mit.edu	36	X	138868040	138868040	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:138868040C>A	uc004fbb.1	-	c.91G>T	c.(91-93)GAT>TAT	p.D31Y		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487	31	Extracellular (Potential).					integral to membrane					0														0.25	132.128137	146.016807	61	183	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138868040	138868040	4283	23	C	A	A	32	32	CXorf66	A	3	3
SOX3	6658	broad.mit.edu	36	X	139414475	139414475	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:139414475C>A	uc004fbd.1	-	c.417G>T	c.(415-417)GTG>GTT	p.V139V		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	139	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)													0.421053	85.281117	85.695482	32	44	CC		KEEP	---	---	---	---	capture			Silent	SNP	139414475	139414475	15451	23	C	A	A	29	29	SOX3	A	3	3
SPANXC	64663	broad.mit.edu	36	X	140163396	140163396	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:140163396C>T	uc004fbk.1	-	c.214G>A	c.(214-216)GCC>ACC	p.A72T	SPANXC_uc004fbl.1_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	sperm protein associated with the nucleus, X	72						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)													0.108466	18.676803	76.167839	41	337	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140163396	140163396	15494	23	C	T	T	27	27	SPANXC	T	1	1
MAGEC1	9947	broad.mit.edu	36	X	140820896	140820896	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:140820896C>A	uc004fbt.1	+	c.40C>A	c.(40-42)CTT>ATT	p.L14I	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	14							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.274436	164.838783	177.046074	73	193	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140820896	140820896	9561	23	C	A	A	32	32	MAGEC1	A	3	3
MAGEC1	9947	broad.mit.edu	36	X	140821092	140821092	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:140821092C>T	uc004fbt.1	+	c.236C>T	c.(235-237)CCT>CTT	p.P79L	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	79							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.556314	528.847471	529.656132	163	130	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140821092	140821092	9561	23	C	T	T	24	24	MAGEC1	T	2	2
MAGEC1	9947	broad.mit.edu	36	X	140821360	140821360	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:140821360C>T	uc004fbt.1	+	c.504C>T	c.(502-504)AGC>AGT	p.S168S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	168							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.295455	218.026216	229.54356	91	217	CC		KEEP	---	---	---	---	capture			Silent	SNP	140821360	140821360	9561	23	C	T	T	27	27	MAGEC1	T	1	1
MAGEC1	9947	broad.mit.edu	36	X	140822152	140822152	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:140822152A>C	uc004fbt.1	+	c.1296A>C	c.(1294-1296)CAA>CAC	p.Q432H	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	432							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.217158	211.690789	239.191841	81	292	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140822152	140822152	9561	23	A	C	C	1	1	MAGEC1	C	4	4
MAGEC1	9947	broad.mit.edu	36	X	140823917	140823917	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:140823917G>A	uc004fbt.1	+	c.3061G>A	c.(3061-3063)GAT>AAT	p.D1021N	MAGEC1_uc010nsl.1_Missense_Mutation_p.D88N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1021	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.256917	151.030774	164.606695	65	188	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140823917	140823917	9561	23	G	A	A	41	41	MAGEC1	A	2	2
MAGEC2	51438	broad.mit.edu	36	X	141118581	141118581	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:141118581G>A	uc004fbu.1	-	c.859C>T	c.(859-861)CGG>TGG	p.R287W	MAGEC2_uc010nsm.1_Missense_Mutation_p.R287W	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	287	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.258687	154.898088	168.569408	67	192	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141118581	141118581	9562	23	G	A	A	37	37	MAGEC2	A	1	1
SLITRK4	139065	broad.mit.edu	36	X	142545276	142545276	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:142545276T>C	uc004fbx.1	-	c.1315A>G	c.(1315-1317)AGA>GGA	p.R439G	SLITRK4_uc004fby.1_Missense_Mutation_p.R439G|SLITRK4_uc010nsn.1_Missense_Mutation_p.R439G	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein	439	Extracellular (Potential).|LRR 9.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.345178	221.858795	226.020156	68	129	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142545276	142545276	15243	23	T	C	C	54	54	SLITRK4	C	4	4
SPANXN2	494119	broad.mit.edu	36	X	142631368	142631368	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:142631368T>G	uc004fbz.1	-	c.61A>C	c.(61-63)AAC>CAC	p.N21H		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	21										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.271949	384.654413	406.526822	127	340	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142631368	142631368	15499	23	T	G	G	61	61	SPANXN2	G	4	4
SLITRK2	84631	broad.mit.edu	36	X	144711725	144711725	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:144711725G>T	uc004fcc.1	+	c.90G>T	c.(88-90)AAG>AAT	p.K30N	SLITRK2_uc010nso.1_Missense_Mutation_p.K30N|SLITRK2_uc004fcd.1_Missense_Mutation_p.K30N|SLITRK2_uc004fce.1_Missense_Mutation_p.K30N|SLITRK2_uc004fcg.1_Missense_Mutation_p.K30N|SLITRK2_uc010nsp.1_Missense_Mutation_p.K30N	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	30	Extracellular (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.291667	65.752886	69.490611	28	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144711725	144711725	15241	23	G	T	T	33	33	SLITRK2	T	3	3
SLITRK2	84631	broad.mit.edu	36	X	144712845	144712845	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:144712845C>T	uc004fcc.1	+	c.1210C>T	c.(1210-1212)CTG>TTG	p.L404L	SLITRK2_uc010nso.1_Silent_p.L404L|SLITRK2_uc004fcd.1_Silent_p.L404L|SLITRK2_uc004fce.1_Silent_p.L404L|SLITRK2_uc004fcg.1_Silent_p.L404L|SLITRK2_uc010nsp.1_Silent_p.L404L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	404	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.26	184.913877	200.562306	78	222	CC		KEEP	---	---	---	---	capture			Silent	SNP	144712845	144712845	15241	23	C	T	T	20	20	SLITRK2	T	2	2
SLITRK2	84631	broad.mit.edu	36	X	144712931	144712931	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:144712931C>T	uc004fcc.1	+	c.1296C>T	c.(1294-1296)GGC>GGT	p.G432G	SLITRK2_uc010nso.1_Silent_p.G432G|SLITRK2_uc004fcd.1_Silent_p.G432G|SLITRK2_uc004fce.1_Silent_p.G432G|SLITRK2_uc004fcg.1_Silent_p.G432G|SLITRK2_uc010nsp.1_Silent_p.G432G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	432	Extracellular (Potential).|LRR 9.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.22467	204.373425	236.039498	102	352	CC		KEEP	---	---	---	---	capture			Silent	SNP	144712931	144712931	15241	23	C	T	T	25	25	SLITRK2	T	2	2
CXorf1	9142	broad.mit.edu	36	X	144717182	144717182	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:144717182G>A	uc004fch.1	+	c.295G>A	c.(295-297)GCC>ACC	p.A99T		NM_004709	NP_004700	O96002	CX001_HUMAN	hypothetical protein LOC9142	99											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.254545	61.95802	67.966953	28	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144717182	144717182	4260	23	G	A	A	42	42	CXorf1	A	2	2
FMR1	2332	broad.mit.edu	36	X	146832427	146832427	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:146832427C>T	uc010nst.1	+	c.1360C>T	c.(1360-1362)CGT>TGT	p.R454C	FMR1_uc004fcj.2_Missense_Mutation_p.R431C|FMR1_uc004fck.2_Missense_Mutation_p.R433C|FMR1_uc004fcl.2_Missense_Mutation_p.R294C	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	454	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.219269	140.68215	162.544258	66	235	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	146832427	146832427	6202	23	C	T	T	31	31	FMR1	T	1	1
FMR1NB	158521	broad.mit.edu	36	X	146870887	146870887	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:146870887C>A	uc004fcm.1	+	c.273C>A	c.(271-273)TGC>TGA	p.C91*		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	91	Extracellular (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.257028	143.56338	156.90578	64	185	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	146870887	146870887	6203	23	C	A	A	28	28	FMR1NB	A	5	3
AFF2	2334	broad.mit.edu	36	X	147541258	147541258	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:147541258C>T	uc004fcp.1	+	c.94C>T	c.(94-96)CGG>TGG	p.R32W	AFF2_uc004fcq.1_Missense_Mutation_p.R32W|AFF2_uc004fcr.1_Missense_Mutation_p.R32W|AFF2_uc004fcs.1_Missense_Mutation_p.R32W|AFF2_uc004fco.2_Missense_Mutation_p.R32W	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	32					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.241096	189.535966	211.854048	88	277	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	147541258	147541258	358	23	C	T	T	27	27	AFF2	T	1	1
AFF2	2334	broad.mit.edu	36	X	147852017	147852017	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:147852017G>T	uc004fcp.1	+	c.2767G>T	c.(2767-2769)GAC>TAC	p.D923Y	AFF2_uc004fcq.1_Missense_Mutation_p.D913Y|AFF2_uc004fcr.1_Missense_Mutation_p.D884Y|AFF2_uc004fcs.1_Missense_Mutation_p.D890Y	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	923					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.22449	40.283825	47.143102	22	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	147852017	147852017	358	23	G	T	T	41	41	AFF2	T	3	3
AFF2	2334	broad.mit.edu	36	X	147856295	147856295	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:147856295T>A	uc004fcp.1	+	c.3195T>A	c.(3193-3195)TTT>TTA	p.F1065L	AFF2_uc004fcq.1_Missense_Mutation_p.F1055L|AFF2_uc004fcr.1_Missense_Mutation_p.F1026L|AFF2_uc004fcs.1_Missense_Mutation_p.F1030L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1065					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.576923	637.663246	639.409105	195	143	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	147856295	147856295	358	23	T	A	A	63	63	AFF2	A	4	4
FANCB	2187	broad.mit.edu	36	X	14792891	14792891	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:14792891T>G	uc004cwg.1	-	c.663A>C	c.(661-663)GAA>GAC	p.E221D	FANCB_uc004cwh.1_Missense_Mutation_p.E221D	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	221					DNA repair	nucleoplasm					0	Hepatocellular(33;0.183)									92				0.282407	159.17812	168.369654	61	155	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14792891	14792891	5899	23	T	G	G	56	56	FANCB	G	4	4
MOSPD2	158747	broad.mit.edu	36	X	14846764	14846764	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:14846764T>G	uc004cwi.1	+	c.1358T>G	c.(1357-1359)CTT>CGT	p.L453R	MOSPD2_uc004cwj.1_Missense_Mutation_p.L390R	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	453						integral to membrane	structural molecule activity			lung(1)	1	Hepatocellular(33;0.183)													0.28	92.07071	97.510976	35	90	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14846764	14846764	10108	23	T	G	G	56	56	MOSPD2	G	4	4
MAGEA11	4110	broad.mit.edu	36	X	148576556	148576556	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:148576556G>A	uc004fdq.1	-	c.703C>T	c.(703-705)CGC>TGC	p.R235C	HSFX1_uc004fdl.1_Intron|HSFX1_uc004fdm.1_Intron|MAGEA11_uc004fdr.1_Missense_Mutation_p.R206C|MAGEA11_uc004fds.1_Missense_Mutation_p.R200C	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	235	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.301282	252.03261	263.034551	94	218	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	148576556	148576556	9542	23	G	A	A	39	39	MAGEA11	A	1	1
MAGEA8	4107	broad.mit.edu	36	X	148774065	148774065	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:148774065C>T	uc004fdw.1	+	c.361C>T	c.(361-363)CGT>TGT	p.R121C	MAGEA8_uc010ntd.1_Missense_Mutation_p.R121C	NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	121	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)													0.267361	177.346152	191.431731	77	211	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	148774065	148774065	9550	23	C	T	T	31	31	MAGEA8	T	1	1
MAMLD1	10046	broad.mit.edu	36	X	149364507	149364507	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:149364507C>T	uc004fee.1	+	c.67C>T	c.(67-69)CGT>TGT	p.R23C		NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	23					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)													0.517857	84.572746	84.588156	29	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149364507	149364507	9591	23	C	T	T	31	31	MAMLD1	T	1	1
MTM1	4534	broad.mit.edu	36	X	149560512	149560512	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:149560512G>A	uc004fef.2	+	c.641G>A	c.(640-642)CGG>CAG	p.R214Q	MTM1_uc010nte.1_Missense_Mutation_p.R82Q	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	214	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			ovary(1)|kidney(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.620853	421.257218	423.959402	131	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149560512	149560512	10330	23	G	A	A	39	39	MTM1	A	1	1
MTM1	4534	broad.mit.edu	36	X	149577108	149577108	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:149577108G>A	uc004fef.2	+	c.1210G>A	c.(1210-1212)GAA>AAA	p.E404K	MTM1_uc010nte.1_Missense_Mutation_p.E272K	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	404	Myotubularin phosphatase.		E -> K (in XCNM; mild).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			ovary(1)|kidney(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.314961	100.241168	104.117315	40	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149577108	149577108	10330	23	G	A	A	37	37	MTM1	A	1	1
MTM1	4534	broad.mit.edu	36	X	149590693	149590693	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:149590693G>A	uc004fef.2	+	c.1779G>A	c.(1777-1779)TCG>TCA	p.S593S	MTM1_uc010nte.1_Silent_p.S461S	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	593					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			ovary(1)|kidney(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.30597	98.419521	102.922376	41	93	GG		KEEP	---	---	---	---	capture			Silent	SNP	149590693	149590693	10330	23	G	A	A	38	38	MTM1	A	1	1
MTMR1	8776	broad.mit.edu	36	X	149656394	149656394	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:149656394G>T	uc004feh.1	+	c.1289G>T	c.(1288-1290)AGA>ATA	p.R430I	MTMR1_uc004fei.1_Missense_Mutation_p.R422I|MTMR1_uc004fej.1_Non-coding_Transcript|MTMR1_uc010ntf.1_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	422	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.568493	234.717296	235.310591	83	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149656394	149656394	10331	23	G	T	T	33	33	MTMR1	T	3	3
HMGB3	3149	broad.mit.edu	36	X	149905199	149905199	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:149905199G>T	uc004fep.1	+	c.168G>T	c.(166-168)GAG>GAT	p.E56D	HMGB3_uc004feq.2_Missense_Mutation_p.E56D|HMGB3_uc004fer.1_Missense_Mutation_p.E56D	NM_005342	NP_005333	O15347	HMGB3_HUMAN	high-mobility group box 3	56	HMG box 1.		E -> Q.		DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding				0	Acute lymphoblastic leukemia(192;6.56e-05)													0.241667	61.316519	68.622735	29	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149905199	149905199	7518	23	G	T	T	33	33	HMGB3	T	3	3
GPR50	9248	broad.mit.edu	36	X	150099855	150099855	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150099855G>A	uc010ntg.1	+	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	381	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)													0.630037	501.438576	505.496246	172	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150099855	150099855	6972	23	G	A	A	40	40	GPR50	A	1	1
PASD1	139135	broad.mit.edu	36	X	150540115	150540115	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150540115G>A	uc004fev.2	+	c.265G>A	c.(265-267)GTC>ATC	p.V89I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	89	PAS.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.276699	140.490688	149.734728	57	149	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150540115	150540115	11888	23	G	A	A	36	36	PASD1	A	2	2
FATE1	89885	broad.mit.edu	36	X	150636473	150636473	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150636473C>T	uc004fex.1	+	c.180C>T	c.(178-180)GGC>GGT	p.G60G		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	fetal and adult testis expressed transcript	60						endoplasmic reticulum|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.31769	238.70172	246.886483	88	189	CC		KEEP	---	---	---	---	capture			Silent	SNP	150636473	150636473	5929	23	C	T	T	28	28	FATE1	T	2	2
CNGA2	1260	broad.mit.edu	36	X	150662311	150662311	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150662311C>T	uc004fey.1	+	c.680C>T	c.(679-681)TCC>TTC	p.S227F		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	227	Helical; Name=H3; (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)													0.622517	279.201649	281.133994	94	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150662311	150662311	3735	23	C	T	T	30	30	CNGA2	T	2	2
CNGA2	1260	broad.mit.edu	36	X	150662452	150662452	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150662452G>A	uc004fey.1	+	c.821G>A	c.(820-822)CGC>CAC	p.R274H		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	274	Extracellular (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)													0.56446	471.066605	472.106628	162	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150662452	150662452	3735	23	G	A	A	38	38	CNGA2	A	1	1
MAGEA4	4103	broad.mit.edu	36	X	150843278	150843278	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150843278C>A	uc004fez.1	+	c.486C>A	c.(484-486)ATC>ATA	p.I162I	MAGEA4_uc004ffa.1_Silent_p.I162I|MAGEA4_uc004ffb.1_Silent_p.I162I|MAGEA4_uc004ffc.1_Silent_p.I162I|MAGEA4_uc004ffd.1_Silent_p.I162I|MAGEA4_uc010nth.1_Silent_p.I162I	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	162	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.302905	170.564731	178.933855	73	168	CC		KEEP	---	---	---	---	capture			Silent	SNP	150843278	150843278	9547	23	C	A	A	32	32	MAGEA4	A	3	3
MAGEA10	4109	broad.mit.edu	36	X	151053977	151053977	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:151053977C>A	uc004ffk.1	-	c.772G>T	c.(772-774)GGG>TGG	p.G258W	MAGEA10_uc004ffl.1_Missense_Mutation_p.G258W|MAGEA10_uc010ntj.1_Missense_Mutation_p.G258W	NM_001011543	NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	258	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)													0.301653	180.764521	189.277288	73	169	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151053977	151053977	9541	23	C	A	A	21	21	MAGEA10	A	3	3
MAGEA10	4109	broad.mit.edu	36	X	151054741	151054741	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:151054741C>T	uc004ffk.1	-	c.8G>A	c.(7-9)CGA>CAA	p.R3Q	MAGEA10_uc004ffl.1_Missense_Mutation_p.R3Q|MAGEA10_uc010ntj.1_Missense_Mutation_p.R3Q	NM_001011543	NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	3											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.223684	110.101441	126.110052	51	177	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151054741	151054741	9541	23	C	T	T	31	31	MAGEA10	T	1	1
MAGEA6	4105	broad.mit.edu	36	X	151620474	151620474	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:151620474G>T	uc004ffq.1	+	c.508G>T	c.(508-510)GAC>TAC	p.D170Y	MAGEA6_uc004ffr.1_Missense_Mutation_p.D170Y|MAGEA6_uc010ntl.1_Missense_Mutation_p.D170Y	NM_005363	NP_787064	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	170	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)													0.257143	134.987331	148.106576	63	182	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151620474	151620474	9549	23	G	T	T	41	41	MAGEA6	T	3	3
NSDHL	50814	broad.mit.edu	36	X	151785123	151785123	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:151785123C>T	uc004fgt.1	+	c.648C>T	c.(646-648)ATC>ATT	p.I216I	NSDHL_uc004fgs.1_Silent_p.I216I	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	216					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)									0.276923	207.221607	221.779159	90	235	CC		KEEP	---	---	---	---	capture			Silent	SNP	151785123	151785123	11075	23	C	T	T	31	31	NSDHL	T	1	1
ASB9	140462	broad.mit.edu	36	X	15180337	15180337	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15180337C>T	uc004cwl.1	-	c.393G>A	c.(391-393)GAG>GAA	p.E131E	ASB9_uc004cwk.1_Silent_p.E131E|ASB9_uc004cwm.1_Silent_p.E131E|ASB9_uc010ner.1_Silent_p.E131E|ASB9_uc004cwn.2_Silent_p.E102E	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	131					intracellular signal transduction						0	Hepatocellular(33;0.183)													0.230769	48.924715	54.97202	21	70	CC		KEEP	---	---	---	---	capture			Silent	SNP	15180337	15180337	1048	23	C	T	T	32	32	ASB9	T	2	2
PNMA3	29944	broad.mit.edu	36	X	151976751	151976751	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:151976751C>A	uc004fhc.2	+	c.683C>A	c.(682-684)ACT>AAT	p.T228N	PNMA5_uc004fha.2_5'Flank|PNMA3_uc010ntz.1_Missense_Mutation_p.T228N|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	228					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.23796	200.512839	222.664364	84	269	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151976751	151976751	12581	23	C	A	A	20	20	PNMA3	A	3	3
ZNF275	10838	broad.mit.edu	36	X	152263322	152263322	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152263322G>A	uc004fhh.1	+	c.90G>A	c.(88-90)CAG>CAA	p.Q30Q	ZNF275_uc004fhg.1_Intron	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	Error:Variant_position_missing_in_A6NFS0_after_alignment										ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.202703	141.32304	165.627881	60	236	GG		KEEP	---	---	---	---	capture			Silent	SNP	152263322	152263322	18402	23	G	A	A	35	35	ZNF275	A	2	2
HAUS7	55559	broad.mit.edu	36	X	152373645	152373645	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152373645C>T	uc004fhn.1	-	c.1021G>A	c.(1021-1023)GCA>ACA	p.A341T	HAUS7_uc004fhl.2_Intron|HAUS7_uc004fhm.2_Intron|HAUS7_uc004fho.1_Intron|HAUS7_uc004fhp.1_Non-coding_Transcript	NM_207107	NP_996990	Q99871	HAUS7_HUMAN	UCH interacting protein 1 isoform b	312					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0														0.281481	89.213849	94.995488	38	97	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152373645	152373645	7253	23	C	T	T	27	27	HAUS7	T	1	1
ATP2B3	492	broad.mit.edu	36	X	152460063	152460063	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152460063G>T	uc004fht.1	+	c.261G>T	c.(259-261)CAG>CAT	p.Q87H	ATP2B3_uc004fhs.1_Missense_Mutation_p.Q87H	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	87	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.535714	166.085094	166.207739	60	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152460063	152460063	1160	23	G	T	T	33	33	ATP2B3	T	3	3
ATP2B3	492	broad.mit.edu	36	X	152468176	152468176	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152468176C>T	uc004fht.1	+	c.1366C>T	c.(1366-1368)CGC>TGC	p.R456C	ATP2B3_uc004fhs.1_Missense_Mutation_p.R456C	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	456	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.60181	380.30069	382.309542	133	88	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152468176	152468176	1160	23	C	T	T	27	27	ATP2B3	T	1	1
DUSP9	1852	broad.mit.edu	36	X	152568239	152568239	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152568239C>T	uc004fhx.2	+	c.732C>T	c.(730-732)TTC>TTT	p.F244F	DUSP9_uc004fhy.2_Silent_p.F244F	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	244	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.546012	522.659204	523.259391	178	148	CC		KEEP	---	---	---	---	capture			Silent	SNP	152568239	152568239	5017	23	C	T	T	31	31	DUSP9	T	1	1
PNCK	139728	broad.mit.edu	36	X	152589749	152589749	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152589749G>A	uc004fia.1	-	c.774C>T	c.(772-774)TTC>TTT	p.F258F	PNCK_uc004fhz.2_Silent_p.F133F|PNCK_uc010nuh.1_3'UTR	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated non-ubiquitously	235	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)									91				0.253275	143.713687	156.393311	58	171	GG		KEEP	---	---	---	---	capture			Silent	SNP	152589749	152589749	12571	23	G	A	A	33	33	PNCK	A	2	2
PNCK	139728	broad.mit.edu	36	X	152591303	152591303	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152591303C>T	uc004fia.1	-	c.112G>A	c.(112-114)GCA>ACA	p.A38T	PNCK_uc004fhz.2_5'UTR|PNCK_uc010nuh.1_Missense_Mutation_p.A121T	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated non-ubiquitously	38	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)									91				0.522124	163.153219	163.204709	59	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152591303	152591303	12571	23	C	T	T	27	27	PNCK	T	1	1
PIGA	5277	broad.mit.edu	36	X	15259808	15259808	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15259808G>A	uc004cwr.1	-	c.166C>T	c.(166-168)CTC>TTC	p.L56F	PIGA_uc004cwq.1_5'UTR|PIGA_uc010nev.1_Missense_Mutation_p.L56F|PIGA_uc004cws.1_Intron|PIGA_uc010new.1_Missense_Mutation_p.L56F	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	56	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)													0.239286	156.079404	173.462809	67	213	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15259808	15259808	12308	23	G	A	A	34	34	PIGA	A	2	2
SLC6A8	6535	broad.mit.edu	36	X	152609052	152609052	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152609052C>T	uc004fib.2	+	c.291C>T	c.(289-291)ATC>ATT	p.I97I	SLC6A8_uc004fic.2_Silent_p.I97I|SLC6A8_uc010nui.1_5'UTR|SLC6A8_uc010nuj.1_5'Flank	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	97	Helical; (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)					206				0.217391	10.862082	12.556366	5	18	CC		KEEP	---	---	---	---	capture			Silent	SNP	152609052	152609052	15187	23	C	T	T	31	31	SLC6A8	T	1	1
ABCD1	215	broad.mit.edu	36	X	152644285	152644285	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152644285C>T	uc004fif.1	+	c.370C>T	c.(370-372)CGC>TGC	p.R124C	BCAP31_uc004fid.1_5'Flank|BCAP31_uc004fie.1_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	124	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.255814	27.407513	29.731526	11	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152644285	152644285	61	23	C	T	T	23	23	ABCD1	T	1	1
ABCD1	215	broad.mit.edu	36	X	152644403	152644403	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152644403G>A	uc004fif.1	+	c.488G>A	c.(487-489)CGC>CAC	p.R163H	BCAP31_uc004fid.1_5'Flank|BCAP31_uc004fie.1_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	163	ABC transmembrane type-1.|Interaction with PEX19.		R -> P (in X-ALD).|R -> H (in X-ALD).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.348315	80.698702	82.505578	31	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152644403	152644403	61	23	G	A	A	38	38	ABCD1	A	1	1
PLXNB3	5365	broad.mit.edu	36	X	152684194	152684194	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152684194G>A	uc004fii.1	+	c.10G>A	c.(10-12)GCC>ACC	p.A4T	PLXNB3_uc010nuk.1_5'UTR	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3	4					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)													0.357143	12.569651	12.821903	5	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152684194	152684194	12551	23	G	A	A	38	38	PLXNB3	A	1	1
SRPK3	26576	broad.mit.edu	36	X	152703016	152703016	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152703016C>T	uc004fik.1	+	c.1419C>T	c.(1417-1419)ATC>ATT	p.I473I	SRPK3_uc004fil.1_Silent_p.I407I|SRPK3_uc004fim.1_Silent_p.I373I|SRPK3_uc010nul.1_Silent_p.I331I|SRPK3_uc004fin.1_Silent_p.I406I	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	SFRS protein kinase 3	407	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development|protein phosphorylation		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					Esophageal Squamous(167;766 3400 32156)				307				0.219178	32.158271	37.466051	16	57	CC		KEEP	---	---	---	---	capture			Silent	SNP	152703016	152703016	15675	23	C	T	T	31	31	SRPK3	T	1	1
SRPK3	26576	broad.mit.edu	36	X	152704089	152704089	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152704089C>A	uc004fik.1	+	c.1822C>A	c.(1822-1824)CTG>ATG	p.L608M	SRPK3_uc004fil.1_Missense_Mutation_p.L542M|SRPK3_uc004fim.1_Missense_Mutation_p.L508M|SRPK3_uc010nul.1_Missense_Mutation_p.L466M|SRPK3_uc004fin.1_Missense_Mutation_p.L541M	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	SFRS protein kinase 3	542	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development|protein phosphorylation		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					Esophageal Squamous(167;766 3400 32156)				307				0.268199	153.281655	165.985102	70	191	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152704089	152704089	15675	23	C	A	A	32	32	SRPK3	A	3	3
IDH3G	3421	broad.mit.edu	36	X	152704871	152704871	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152704871T>C	uc004fip.1	-	c.1070A>G	c.(1069-1071)GAC>GGC	p.D357G	IDH3G_uc004fio.1_Missense_Mutation_p.D299G|IDH3G_uc004fiq.1_Missense_Mutation_p.D357G|IDH3G_uc010num.1_Missense_Mutation_p.D299G|IDH3G_uc004fir.1_Missense_Mutation_p.D299G|IDH3G_uc004fis.1_Missense_Mutation_p.D299G|IDH3G_uc004fit.1_3'UTR|IDH3G_uc004fiu.2_Missense_Mutation_p.D133G	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	357					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)									0.637255	225.504988	227.198527	65	37	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152704871	152704871	7798	23	T	C	C	58	58	IDH3G	C	4	4
IDH3G	3421	broad.mit.edu	36	X	152705519	152705519	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152705519C>T	uc004fip.1	-	c.855G>A	c.(853-855)GCG>GCA	p.A285A	IDH3G_uc004fio.1_Silent_p.A227A|IDH3G_uc004fiq.1_Silent_p.A285A|IDH3G_uc010num.1_Silent_p.A227A|IDH3G_uc004fir.1_Silent_p.A227A|IDH3G_uc004fis.1_Silent_p.A227A|IDH3G_uc004fit.1_Silent_p.A285A|IDH3G_uc004fiu.2_Silent_p.A61A	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	285					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)									0.272321	149.469289	159.944961	61	163	CC		KEEP	---	---	---	---	capture			Silent	SNP	152705519	152705519	7798	23	C	T	T	23	23	IDH3G	T	1	1
PDZD4	57595	broad.mit.edu	36	X	152722193	152722193	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152722193G>A	uc004fja.1	-	c.2137C>T	c.(2137-2139)CGG>TGG	p.R713W	PDZD4_uc004fix.1_Missense_Mutation_p.R611W|PDZD4_uc004fiy.1_Missense_Mutation_p.R632W|PDZD4_uc004fiz.1_Missense_Mutation_p.R707W	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	707						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.606061	281.873914	283.489743	100	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152722193	152722193	12124	23	G	A	A	38	38	PDZD4	A	1	1
L1CAM	3897	broad.mit.edu	36	X	152789501	152789501	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152789501G>A	uc004fjb.1	-	c.632C>T	c.(631-633)GCC>GTC	p.A211V	L1CAM_uc004fjc.1_Missense_Mutation_p.A211V|L1CAM_uc004fjd.1_Missense_Mutation_p.A25V|L1CAM_uc010nuo.1_Missense_Mutation_p.A206V|L1CAM_uc004fje.1_Missense_Mutation_p.A206V	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	211	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.282353	116.116391	123.359693	48	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152789501	152789501	8911	23	G	A	A	42	42	L1CAM	A	2	2
NAA10	8260	broad.mit.edu	36	X	152851068	152851068	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152851068C>T	uc004fjm.1	-	c.236G>A	c.(235-237)CGT>CAT	p.R79H	NAA10_uc004fjn.1_Missense_Mutation_p.R79H	NM_003491	NP_003482	P41227	NAA10_HUMAN	N-acetyltransferase ARD1	79	N-acetyltransferase.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)	1						Ovarian(94;1099 1433 38814 45882 51063)								0.237288	29.520484	33.242601	14	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152851068	152851068	10511	23	C	T	T	19	19	NAA10	T	1	1
NAA10	8260	broad.mit.edu	36	X	152853086	152853086	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152853086G>T	uc004fjm.1	-	c.58C>A	c.(58-60)CTC>ATC	p.L20I	NAA10_uc004fjn.1_Missense_Mutation_p.L20I	NM_003491	NP_003482	P41227	NAA10_HUMAN	N-acetyltransferase ARD1	20	N-acetyltransferase.|Interaction with NAA15.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)	1						Ovarian(94;1099 1433 38814 45882 51063)								0.346154	23.06571	23.609673	9	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152853086	152853086	10511	23	G	T	T	35	35	NAA10	T	3	3
RENBP	5973	broad.mit.edu	36	X	152860604	152860604	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152860604C>T	uc004fjo.1	-	c.732G>A	c.(730-732)CAG>CAA	p.Q244Q		NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	254					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)									0.252632	111.700695	122.265995	48	142	CC		KEEP	---	---	---	---	capture			Silent	SNP	152860604	152860604	13694	23	C	T	T	32	32	RENBP	T	2	2
MECP2	4204	broad.mit.edu	36	X	152951086	152951086	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152951086G>T	uc004fjw.2	-	c.179C>A	c.(178-180)CCA>CAA	p.P60Q	MECP2_uc004fjv.2_Missense_Mutation_p.P48Q	NM_001110792	NP_001104262	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 2	48					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.186352	130.503461	165.63091	71	310	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152951086	152951086	9812	23	G	T	T	47	47	MECP2	T	3	3
OPN1LW	5956	broad.mit.edu	36	X	153075080	153075080	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153075080G>A	uc004fjz.2	+	c.862G>A	c.(862-864)GCA>ACA	p.A288T		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	288	Helical; Name=6; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.27256	332.765898	358.091038	148	395	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153075080	153075080	11283	23	G	A	A	38	38	OPN1LW	A	1	1
PIR	8544	broad.mit.edu	36	X	15313053	15313053	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15313053C>T	uc004cwu.1	-	c.867G>A	c.(865-867)GGG>GGA	p.G289G	PIR_uc004cwv.1_Silent_p.G289G|FIGF_uc004cwt.1_5'Flank	NM_003662	NP_003653	O00625	PIR_HUMAN	pirin	289					oxidation-reduction process|transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			ovary(1)	1	Hepatocellular(33;0.183)					Ovarian(180;1587 2015 10555 34192 51653)								0.234375	101.067257	113.470756	45	147	CC		KEEP	---	---	---	---	capture			Silent	SNP	15313053	15313053	12368	23	C	T	T	30	30	PIR	T	2	2
TKTL1	8277	broad.mit.edu	36	X	153192475	153192475	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153192475C>A	uc004fkg.1	+	c.445C>A	c.(445-447)CTT>ATT	p.L149I	TKTL1_uc004fkh.1_Missense_Mutation_p.L93I	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1	149					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)													0.295455	118.407423	125.010397	52	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153192475	153192475	16464	23	C	A	A	32	32	TKTL1	A	3	3
FLNA	2316	broad.mit.edu	36	X	153231103	153231103	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153231103C>A	uc004fkk.2	-	c.7577G>T	c.(7576-7578)AGC>ATC	p.S2526I	FLNA_uc004fki.2_Missense_Mutation_p.S566I|FLNA_uc010nuu.1_Missense_Mutation_p.S2518I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2526	Self-association site, tail.|Hinge 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	actin cytoskeleton|cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)									518				0.28125	99.302974	106.18911	45	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153231103	153231103	6175	23	C	A	A	28	28	FLNA	A	3	3
FLNA	2316	broad.mit.edu	36	X	153241553	153241553	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153241553C>A	uc004fkk.2	-	c.3804G>T	c.(3802-3804)CAG>CAT	p.Q1268H	FLNA_uc010nuu.1_Missense_Mutation_p.Q1268H	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1268	Filamin 11.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	actin cytoskeleton|cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)									518				0.324324	87.790241	90.816122	36	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153241553	153241553	6175	23	C	A	A	24	24	FLNA	A	3	3
FLNA	2316	broad.mit.edu	36	X	153247649	153247649	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153247649C>T	uc004fkk.2	-	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M	FLNA_uc010nuu.1_Missense_Mutation_p.V456M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	456	Filamin 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	actin cytoskeleton|cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)									518				0.309278	71.917069	75.059709	30	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153247649	153247649	6175	23	C	T	T	19	19	FLNA	T	1	1
DNASE1L1	1774	broad.mit.edu	36	X	153284720	153284720	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153284720C>A	uc004fks.1	-	c.531G>T	c.(529-531)GTG>GTT	p.V177V	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Silent_p.V177V|DNASE1L1_uc004fku.1_Silent_p.V177V|DNASE1L1_uc004fkv.1_Silent_p.V177V|DNASE1L1_uc004fkw.1_Silent_p.V177V	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	177					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)													0.261411	132.977997	145.426454	63	178	CC		KEEP	---	---	---	---	capture			Silent	SNP	153284720	153284720	4844	23	C	A	A	29	29	DNASE1L1	A	3	3
PLXNA3	55558	broad.mit.edu	36	X	153342828	153342828	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153342828C>T	uc004flm.1	+	c.790C>T	c.(790-792)CGC>TGC	p.R264C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3	264	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2	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)													0.285124	155.971901	166.005899	69	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153342828	153342828	12547	23	C	T	T	27	27	PLXNA3	T	1	1
PLXNA3	55558	broad.mit.edu	36	X	153349699	153349699	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153349699A>G	uc004flm.1	+	c.3901A>G	c.(3901-3903)ACT>GCT	p.T1301A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3	1301	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2	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)													0.256	89.460511	96.198346	32	93	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153349699	153349699	12547	23	A	G	G	10	10	PLXNA3	G	4	4
G6PD	2539	broad.mit.edu	36	X	153414104	153414104	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153414104G>A	uc004flx.1	-	c.1249C>T	c.(1249-1251)CGC>TGC	p.R417C	G6PD_uc004fly.1_Missense_Mutation_p.R387C	NM_000402	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform a	387			R -> C (in CNSHA; Guadajalara and Mount Sinai; class I).|R -> H (in Beverly Hills; class I).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.240741	52.644243	59.238864	26	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153414104	153414104	6397	23	G	A	A	38	38	G6PD	A	1	1
DKC1	1736	broad.mit.edu	36	X	153652287	153652287	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153652287C>T	uc004fmm.1	+	c.975C>T	c.(973-975)GAC>GAT	p.D325D	DKC1_uc010nvf.1_Silent_p.D325D	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	325	PUA.				cell proliferation|pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)													0.244019	111.500245	124.003722	51	158	CC		KEEP	---	---	---	---	capture			Silent	SNP	153652287	153652287	4721	23	C	T	T	19	19	DKC1	T	1	1
DKC1	1736	broad.mit.edu	36	X	153658329	153658329	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153658329C>T	uc004fmm.1	+	c.1538C>T	c.(1537-1539)TCT>TTT	p.S513F	DKC1_uc010nvf.1_Missense_Mutation_p.S508F	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	513	Nuclear and nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)													0.285714	39.028195	41.048127	14	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153658329	153658329	4721	23	C	T	T	32	32	DKC1	T	2	2
MPP1	4354	broad.mit.edu	36	X	153662751	153662751	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153662751G>A	uc004fmp.1	-	c.1181C>T	c.(1180-1182)TCG>TTG	p.S394L	MPP1_uc004fmq.1_Missense_Mutation_p.S348L|MPP1_uc010nvg.1_Missense_Mutation_p.S374L	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	394	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)													0.662577	327.425838	331.230771	108	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153662751	153662751	10125	23	G	A	A	37	37	MPP1	A	1	1
F8	2157	broad.mit.edu	36	X	153810342	153810342	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153810342G>A	uc004fmt.1	-	c.4917C>T	c.(4915-4917)CCC>CCT	p.P1639P		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1639	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|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)					359				0.243542	156.655021	172.875178	66	205	GG		KEEP	---	---	---	---	capture			Silent	SNP	153810342	153810342	5544	23	G	A	A	39	39	F8	A	1	1
F8	2157	broad.mit.edu	36	X	153810597	153810597	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153810597C>A	uc004fmt.1	-	c.4662G>T	c.(4660-4662)TGG>TGT	p.W1554C		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1554	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|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)					359				0.256039	232.530741	254.899015	106	308	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153810597	153810597	5544	23	C	A	A	30	30	F8	A	3	3
F8	2157	broad.mit.edu	36	X	153874579	153874579	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153874579C>T	uc004fmt.1	-	c.427G>A	c.(427-429)GAA>AAA	p.E143K		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	143	Plastocyanin-like 1.|F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|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)					359				0.271715	321.549873	342.649836	122	327	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153874579	153874579	5544	23	C	T	T	32	32	F8	T	2	2
VBP1	7411	broad.mit.edu	36	X	154117815	154117815	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:154117815C>T	uc004fnc.1	+	c.496C>T	c.(496-498)CGA>TGA	p.R166*	VBP1_uc004fnd.1_Nonsense_Mutation_p.R129*	NM_003372	NP_003363	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	166					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.583012	450.151978	451.711045	151	108	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	154117815	154117815	17701	23	C	T	T	31	31	VBP1	T	5	1
BMX	660	broad.mit.edu	36	X	15436416	15436416	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15436416C>A	uc004cww.1	+	c.19C>A	c.(19-21)CTA>ATA	p.L7I	BMX_uc004cwx.2_Missense_Mutation_p.L7I|BMX_uc004cwy.2_Missense_Mutation_p.L7I	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	7	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development|protein phosphorylation	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)									167				0.204545	46.535086	57.249422	27	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15436416	15436416	1498	23	C	A	A	32	32	BMX	A	3	3
TMLHE	55217	broad.mit.edu	36	X	154427963	154427963	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:154427963C>A	uc004fnn.1	-	c.169G>T	c.(169-171)GAA>TAA	p.E57*	TMLHE_uc004fno.1_Nonsense_Mutation_p.E57*|TMLHE_uc004fnp.2_Nonsense_Mutation_p.E57*	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	57					carnitine biosynthetic process|oxidation-reduction process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)									0.213415	70.72472	83.178986	35	129	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	154427963	154427963	16772	23	C	A	A	29	29	TMLHE	A	5	3
BMX	660	broad.mit.edu	36	X	15484172	15484172	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15484172G>A	uc004cww.1	+	c.2009G>A	c.(2008-2010)CGG>CAG	p.R670Q	BMX_uc004cwx.2_Missense_Mutation_p.R670Q|BMX_uc004cwy.2_Missense_Mutation_p.R670Q	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	670	Protein kinase.		R -> W (in a lung large cell carcinoma sample; somatic mutation).		cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development|protein phosphorylation	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)									167				0.278646	293.455152	310.382347	107	277	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15484172	15484172	1498	23	G	A	A	39	39	BMX	A	1	1
ACE2	59272	broad.mit.edu	36	X	15506151	15506151	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15506151C>T	uc004cwz.1	-	c.1279G>A	c.(1279-1281)GAT>AAT	p.D427N	ACE2_uc004cxa.1_Missense_Mutation_p.D427N|ACE2_uc004cxb.1_Missense_Mutation_p.D427N	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	427	Extracellular (Potential).			SPD->PSN: Slightly inhibits interaction with SARS-CoV spike glycoprotein.	angiotensin catabolic process in blood|angiotensin-mediated drinking behavior|oxygen and reactive oxygen species metabolic process|proteolysis|receptor biosynthetic process|regulation of cell proliferation|regulation of cytokine production|regulation of inflammatory response|regulation of vasoconstriction|regulation of vasodilation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)									0.25	68.014406	74.608653	29	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15506151	15506151	138	23	C	T	T	31	31	ACE2	T	1	1
CA5B	11238	broad.mit.edu	36	X	15700561	15700561	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15700561A>G	uc004cxe.1	+	c.362A>G	c.(361-363)GAA>GGA	p.E121G		NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial precursor	121					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding				0	Hepatocellular(33;0.183)													0.616046	770.302512	774.426955	215	134	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15700561	15700561	2636	23	A	G	G	9	9	CA5B	G	4	4
ZRSR2	8233	broad.mit.edu	36	X	15737310	15737310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15737310C>T	uc004cxg.2	+	c.505C>T	c.(505-507)CGA>TGA	p.R169*		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	169	C3H1-type 1.				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					NSCLC(197;1631 3042 5741 31152)								0.256281	112.675375	123.451527	51	148	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	15737310	15737310	18829	23	C	T	T	31	31	ZRSR2	T	5	1
TXLNG	55787	broad.mit.edu	36	X	16746701	16746701	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:16746701T>C	uc004cxq.1	+	c.186T>C	c.(184-186)GAT>GAC	p.D62D	TXLNG_uc010ney.1_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	62					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1														0.260073	202.810734	217.036025	71	202	TT		KEEP	---	---	---	---	capture			Silent	SNP	16746701	16746701	17345	23	T	C	C	49	49	TXLNG	C	4	4
TXLNG	55787	broad.mit.edu	36	X	16767911	16767911	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:16767911G>A	uc004cxq.1	+	c.1199G>A	c.(1198-1200)CGT>CAT	p.R400H	TXLNG_uc010ney.1_Missense_Mutation_p.R268H	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	400	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1														0.211679	59.302861	69.833411	29	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16767911	16767911	17345	23	G	A	A	40	40	TXLNG	A	1	1
TXLNG	55787	broad.mit.edu	36	X	16769795	16769795	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:16769795C>T	uc004cxq.1	+	c.1572C>T	c.(1570-1572)ATC>ATT	p.I524I	TXLNG_uc010ney.1_Silent_p.I392I	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	524					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1														0.290984	173.719748	183.275092	71	173	CC		KEEP	---	---	---	---	capture			Silent	SNP	16769795	16769795	17345	23	C	T	T	31	31	TXLNG	T	1	1
RBBP7	5931	broad.mit.edu	36	X	16773918	16773918	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:16773918A>G	uc004cxs.1	-	c.1295T>C	c.(1294-1296)GTC>GCC	p.V432A	RBBP7_uc004cxt.1_Missense_Mutation_p.V388A|RBBP7_uc004cxu.1_Missense_Mutation_p.V379A	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	388	WD 7.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)													0.291045	114.576218	119.814553	39	95	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16773918	16773918	13565	23	A	G	G	10	10	RBBP7	G	4	4
REPS2	9185	broad.mit.edu	36	X	16957622	16957622	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:16957622G>A	uc004cxv.1	+	c.726G>A	c.(724-726)GGG>GGA	p.G242G	REPS2_uc004cxw.1_Silent_p.G241G	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	242					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2	Hepatocellular(33;0.183)													0.336842	180.975242	185.432756	64	126	GG		KEEP	---	---	---	---	capture			Silent	SNP	16957622	16957622	13698	23	G	A	A	43	43	REPS2	A	2	2
REPS2	9185	broad.mit.edu	36	X	17061921	17061921	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:17061921C>A	uc004cxv.1	+	c.1632C>A	c.(1630-1632)TCC>TCA	p.S544S	REPS2_uc004cxw.1_Silent_p.S543S	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	544	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2	Hepatocellular(33;0.183)													0.209354	183.431942	218.532343	94	355	CC		KEEP	---	---	---	---	capture			Silent	SNP	17061921	17061921	13698	23	C	A	A	22	22	REPS2	A	3	3
NHS	4810	broad.mit.edu	36	X	17654625	17654625	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:17654625G>A	uc004cxx.1	+	c.2415G>A	c.(2413-2415)TGG>TGA	p.W805*	NHS_uc004cxy.1_Nonsense_Mutation_p.W649*|NHS_uc004cxz.1_Nonsense_Mutation_p.W628*|NHS_uc004cya.1_Nonsense_Mutation_p.W528*	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	805						nucleus				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6	Hepatocellular(33;0.183)													0.202572	122.720212	148.316641	63	248	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	17654625	17654625	10811	23	G	A	A	42	42	NHS	A	5	2
NHS	4810	broad.mit.edu	36	X	17655495	17655495	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:17655495G>A	uc004cxx.1	+	c.3285G>A	c.(3283-3285)CAG>CAA	p.Q1095Q	NHS_uc004cxy.1_Silent_p.Q939Q|NHS_uc004cxz.1_Silent_p.Q918Q|NHS_uc004cya.1_Silent_p.Q818Q	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1095						nucleus				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6	Hepatocellular(33;0.183)													0.246528	173.180846	190.029199	71	217	GG		KEEP	---	---	---	---	capture			Silent	SNP	17655495	17655495	10811	23	G	A	A	33	33	NHS	A	2	2
NHS	4810	broad.mit.edu	36	X	17656190	17656190	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:17656190G>A	uc004cxx.1	+	c.3980G>A	c.(3979-3981)CGC>CAC	p.R1327H	NHS_uc004cxy.1_Missense_Mutation_p.R1171H|NHS_uc004cxz.1_Missense_Mutation_p.R1150H|NHS_uc004cya.1_Missense_Mutation_p.R1050H	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1327						nucleus				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6	Hepatocellular(33;0.183)													0.654135	508.614	514.21444	174	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17656190	17656190	10811	23	G	A	A	38	38	NHS	A	1	1
SCML2	10389	broad.mit.edu	36	X	18262098	18262098	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18262098C>T	uc004cyl.2	-	c.15G>A	c.(13-15)GTG>GTA	p.V5V	SCML2_uc004cyk.2_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.V5V	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	5					anatomical structure morphogenesis|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					Esophageal Squamous(100;1252 1965 19021 35517)								0.193548	47.021301	57.897097	24	100	CC		KEEP	---	---	---	---	capture			Silent	SNP	18262098	18262098	14392	23	C	T	T	29	29	SCML2	T	2	2
CDKL5	6792	broad.mit.edu	36	X	18556600	18556600	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18556600G>A	uc004cym.1	+	c.2685G>A	c.(2683-2685)CCG>CCA	p.P895P	CDKL5_uc004cyn.1_Silent_p.P895P	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	895					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Hepatocellular(33;0.183)									244				0.298077	151.561146	159.14768	62	146	GG		KEEP	---	---	---	---	capture			Silent	SNP	18556600	18556600	3286	23	G	A	A	37	37	CDKL5	A	1	1
RS1	6247	broad.mit.edu	36	X	18572560	18572560	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18572560C>T	uc004cyo.1	-	c.433G>A	c.(433-435)GAT>AAT	p.D145N	CDKL5_uc004cym.1_Intron|CDKL5_uc004cyn.1_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	X-linked juvenile retinoschisis protein	145	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				ovary(2)	2	Hepatocellular(33;0.183)									5				0.621818	513.161901	516.738915	171	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18572560	18572560	14173	23	C	T	T	31	31	RS1	T	1	1
PHKA2	5256	broad.mit.edu	36	X	18822326	18822326	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18822326C>T	uc004cyv.2	-	c.3454G>A	c.(3454-3456)GAC>AAC	p.D1152N	PHKA2_uc004cyu.2_Missense_Mutation_p.D458N|PHKA2_uc010nfe.1_Missense_Mutation_p.D184N|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1152					glucose metabolic process|glycogen catabolic process|protein modification process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)													0.272	79.698942	85.55606	34	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18822326	18822326	12268	23	C	T	T	30	30	PHKA2	T	2	2
PHKA2	5256	broad.mit.edu	36	X	18833857	18833857	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18833857C>T	uc004cyv.2	-	c.2848G>A	c.(2848-2850)GAT>AAT	p.D950N	PHKA2_uc004cyu.2_Missense_Mutation_p.D248N|PHKA2_uc010nfe.1_5'UTR|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	950					glucose metabolic process|glycogen catabolic process|protein modification process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)													0.29918	179.106205	187.886192	73	171	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18833857	18833857	12268	23	C	T	T	31	31	PHKA2	T	1	1
PHKA2	5256	broad.mit.edu	36	X	18873150	18873150	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18873150C>T	uc004cyv.2	-	c.585G>A	c.(583-585)CCG>CCA	p.P195P	PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_Silent_p.P137P	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	195					glucose metabolic process|glycogen catabolic process|protein modification process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)													0.261194	87.964229	94.880689	35	99	CC		KEEP	---	---	---	---	capture			Silent	SNP	18873150	18873150	12268	23	C	T	T	23	23	PHKA2	T	1	1
GPR64	10149	broad.mit.edu	36	X	18924161	18924161	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18924161G>A	uc004cyx.1	-	c.2645C>T	c.(2644-2646)GCC>GTC	p.A882V	GPR64_uc004cyw.1_Missense_Mutation_p.A866V|GPR64_uc010nfj.1_Missense_Mutation_p.A763V|GPR64_uc004cyy.1_Missense_Mutation_p.A879V|GPR64_uc004cyz.1_Missense_Mutation_p.A868V|GPR64_uc004czb.1_Missense_Mutation_p.A882V|GPR64_uc004czc.1_Missense_Mutation_p.A866V|GPR64_uc004czd.1_Missense_Mutation_p.A858V|GPR64_uc004cze.1_Missense_Mutation_p.A852V|GPR64_uc004czf.1_Missense_Mutation_p.A844V|GPR64_uc004cza.1_Missense_Mutation_p.A860V	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	882	Cytoplasmic (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)													0.290196	178.682749	188.721509	74	181	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18924161	18924161	6980	23	G	A	A	42	42	GPR64	A	2	2
PDHA1	5160	broad.mit.edu	36	X	19281200	19281200	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19281200C>T	uc004czh.2	+	c.603C>T	c.(601-603)ATC>ATT	p.I201I	PDHA1_uc004czg.2_Silent_p.I166I|PDHA1_uc010nfk.1_Silent_p.I163I|PDHA1_uc010nfl.1_5'Flank	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	166					glycolysis|oxidation-reduction process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)									0.287293	126.925418	134.271633	52	129	CC		KEEP	---	---	---	---	capture			Silent	SNP	19281200	19281200	12085	23	C	T	T	31	31	PDHA1	T	1	1
PDHA1	5160	broad.mit.edu	36	X	19287052	19287052	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19287052G>T	uc004czh.2	+	c.1102G>T	c.(1102-1104)GAA>TAA	p.E368*	PDHA1_uc004czg.2_Nonsense_Mutation_p.E333*|PDHA1_uc010nfk.1_Intron|PDHA1_uc010nfl.1_Nonsense_Mutation_p.E124*	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	333					glycolysis|oxidation-reduction process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)									0.25641	44.056721	48.25884	20	58	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19287052	19287052	12085	23	G	T	T	41	41	PDHA1	T	5	3
MAP3K15	389840	broad.mit.edu	36	X	19289385	19289385	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19289385G>A	uc004czk.1	-	c.2275C>T	c.(2275-2277)CGA>TGA	p.R759*	PDHA1_uc004czg.2_3'UTR|PDHA1_uc004czh.2_3'UTR|PDHA1_uc010nfk.1_3'UTR|PDHA1_uc010nfl.1_3'UTR|MAP3K15_uc004czi.1_Nonsense_Mutation_p.R218*|MAP3K15_uc004czj.1_Nonsense_Mutation_p.R719*	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	1284					protein phosphorylation		ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|skin(1)	6	Hepatocellular(33;0.183)													0.268041	61.805195	66.518621	26	71	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19289385	19289385	9632	23	G	A	A	37	37	MAP3K15	A	5	1
MAP3K15	389840	broad.mit.edu	36	X	19308164	19308164	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19308164A>G	uc004czk.1	-	c.1009T>C	c.(1009-1011)TTC>CTC	p.F337L	MAP3K15_uc004czj.1_Missense_Mutation_p.F297L	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	862	Protein kinase.				protein phosphorylation		ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|skin(1)	6	Hepatocellular(33;0.183)													0.285714	25.089232	26.242387	8	20	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19308164	19308164	9632	23	A	G	G	2	2	MAP3K15	G	4	4
SH3KBP1	30011	broad.mit.edu	36	X	19474047	19474047	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19474047C>T	uc004czm.1	-	c.1537G>A	c.(1537-1539)GAA>AAA	p.E513K	SH3KBP1_uc004czl.1_Missense_Mutation_p.E476K|SH3KBP1_uc010nfm.1_Intron	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	513					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0														0.330097	84.672135	87.329917	34	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19474047	19474047	14747	23	C	T	T	31	31	SH3KBP1	T	1	1
SH3KBP1	30011	broad.mit.edu	36	X	19478070	19478070	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19478070C>T	uc004czm.1	-	c.1437G>A	c.(1435-1437)CCG>CCA	p.P479P	SH3KBP1_uc004czl.1_Silent_p.P442P|SH3KBP1_uc010nfm.1_5'UTR	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	479					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0														0.25	168.096019	184.929645	74	222	CC		KEEP	---	---	---	---	capture			Silent	SNP	19478070	19478070	14747	23	C	T	T	31	31	SH3KBP1	T	1	1
SH3KBP1	30011	broad.mit.edu	36	X	19497156	19497156	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19497156C>T	uc004czm.1	-	c.1370G>A	c.(1369-1371)CGC>CAC	p.R457H	SH3KBP1_uc004czl.1_Missense_Mutation_p.R420H|SH3KBP1_uc010nfm.1_5'UTR	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	457					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0														0.283951	217.646443	231.239503	92	232	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19497156	19497156	14747	23	C	T	T	27	27	SH3KBP1	T	1	1
SH3KBP1	30011	broad.mit.edu	36	X	19559914	19559914	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19559914G>A	uc004czm.1	-	c.886C>T	c.(886-888)CTC>TTC	p.L296F	SH3KBP1_uc004czl.1_Missense_Mutation_p.L259F	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	296	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0														0.53012	275.985029	276.114465	88	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19559914	19559914	14747	23	G	A	A	33	33	SH3KBP1	A	2	2
SH3KBP1	30011	broad.mit.edu	36	X	19611997	19611997	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19611997G>A	uc004czm.1	-	c.591C>T	c.(589-591)AAC>AAT	p.N197N	SH3KBP1_uc004czl.1_Silent_p.N160N	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	197					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0														0.279693	169.760866	181.155593	73	188	GG		KEEP	---	---	---	---	capture			Silent	SNP	19611997	19611997	14747	23	G	A	A	40	40	SH3KBP1	A	1	1
CXorf23	256643	broad.mit.edu	36	X	19881860	19881860	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19881860C>T	uc004czp.1	-	c.1522G>A	c.(1522-1524)GAT>AAT	p.D508N	CXorf23_uc010nfn.1_Non-coding_Transcript|CXorf23_uc004czo.1_Missense_Mutation_p.D458N	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	508						mitochondrion				lung(1)|skin(1)	2														0.232258	86.313653	96.494121	36	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19881860	19881860	4263	23	C	T	T	32	32	CXorf23	T	2	2
CXorf23	256643	broad.mit.edu	36	X	19893361	19893361	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19893361C>A	uc004czp.1	-	c.996G>T	c.(994-996)GAG>GAT	p.E332D	CXorf23_uc010nfn.1_Non-coding_Transcript|CXorf23_uc004czo.1_Missense_Mutation_p.E282D	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	332						mitochondrion				lung(1)|skin(1)	2														0.262097	144.739565	157.457123	65	183	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19893361	19893361	4263	23	C	A	A	32	32	CXorf23	A	3	3
CXorf23	256643	broad.mit.edu	36	X	19894534	19894534	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19894534G>A	uc004czp.1	-	c.196C>T	c.(196-198)CGT>TGT	p.R66C	CXorf23_uc010nfn.1_5'Flank|CXorf23_uc004czo.1_Missense_Mutation_p.R16C	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	66						mitochondrion				lung(1)|skin(1)	2														0.587983	822.488125	825.633317	274	192	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19894534	19894534	4263	23	G	A	A	37	37	CXorf23	A	1	1
MAP7D2	256714	broad.mit.edu	36	X	19944352	19944352	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19944352C>A	uc010nfo.1	-	c.1425G>T	c.(1423-1425)GAG>GAT	p.E475D	MAP7D2_uc004czq.1_Missense_Mutation_p.E319D|MAP7D2_uc004czr.1_Missense_Mutation_p.E434D	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	434										ovary(2)|breast(1)	3														0.267241	73.365353	79.046382	31	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19944352	19944352	9651	23	C	A	A	24	24	MAP7D2	A	3	3
MAP7D2	256714	broad.mit.edu	36	X	19972444	19972444	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19972444C>A	uc010nfo.1	-	c.838G>T	c.(838-840)GAT>TAT	p.D280Y	MAP7D2_uc004czq.1_Missense_Mutation_p.D124Y|MAP7D2_uc004czr.1_Missense_Mutation_p.D239Y	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	239										ovary(2)|breast(1)	3														0.305638	242.582659	253.948461	103	234	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19972444	19972444	9651	23	C	A	A	32	32	MAP7D2	A	3	3
MAP7D2	256714	broad.mit.edu	36	X	19984793	19984793	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19984793C>T	uc010nfo.1	-	c.410G>A	c.(409-411)CGC>CAC	p.R137H	MAP7D2_uc004czq.1_Missense_Mutation_p.R8H|MAP7D2_uc004czr.1_Missense_Mutation_p.R137H|MAP7D2_uc004czs.1_Missense_Mutation_p.R93H	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	137	Potential.									ovary(2)|breast(1)	3														0.577465	117.176344	117.547281	41	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19984793	19984793	9651	23	C	T	T	27	27	MAP7D2	T	1	1
RPS6KA3	6197	broad.mit.edu	36	X	20100810	20100810	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:20100810G>A	uc004czu.1	-	c.1328C>T	c.(1327-1329)GCT>GTT	p.A443V	RPS6KA3_uc004czv.1_Missense_Mutation_p.A430V	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	443	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of caspase activity|nerve growth factor receptor signaling pathway|protein phosphorylation|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(4)|ovary(1)|stomach(1)|breast(1)	7										144				0.232143	32.444551	36.12526	13	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20100810	20100810	14132	23	G	A	A	34	34	RPS6KA3	A	2	2
RPS6KA3	6197	broad.mit.edu	36	X	20104531	20104531	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:20104531C>T	uc004czu.1	-	c.941G>A	c.(940-942)GGA>GAA	p.G314E	RPS6KA3_uc004czv.1_Missense_Mutation_p.G302E	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	314	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of caspase activity|nerve growth factor receptor signaling pathway|protein phosphorylation|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(4)|ovary(1)|stomach(1)|breast(1)	7										144				0.205882	30.20907	35.666053	14	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20104531	20104531	14132	23	C	T	T	30	30	RPS6KA3	T	2	2
CNKSR2	22866	broad.mit.edu	36	X	21454935	21454935	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:21454935C>T	uc004czx.1	+	c.987C>T	c.(985-987)AGC>AGT	p.S329S	CNKSR2_uc004czw.1_Silent_p.S329S|CNKSR2_uc004czy.1_5'UTR	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	329					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)	1														0.565385	842.249317	844.180849	294	226	CC		KEEP	---	---	---	---	capture			Silent	SNP	21454935	21454935	3745	23	C	T	T	27	27	CNKSR2	T	1	1
KLHL34	257240	broad.mit.edu	36	X	21585726	21585726	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:21585726C>T	uc004czz.1	-	c.102G>A	c.(100-102)GAG>GAA	p.E34E		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	34	BTB.									ovary(1)	1														0.25	22.927859	25.203019	10	30	CC		KEEP	---	---	---	---	capture			Silent	SNP	21585726	21585726	8701	23	C	T	T	32	32	KLHL34	T	2	2
YY2	404281	broad.mit.edu	36	X	21784903	21784903	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:21784903C>T	uc010nfq.1	+	c.1034C>T	c.(1033-1035)GCG>GTG	p.A345V	MBTPS2_uc004dab.1_Intron|MBTPS2_uc004dac.1_Intron|MBTPS2_uc010nfr.1_Intron|YY2_uc004dad.1_Missense_Mutation_p.A127V	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2														0.315315	82.68091	86.051586	35	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21784903	21784903	18092	23	C	T	T	27	27	YY2	T	1	1
YY2	404281	broad.mit.edu	36	X	21785469	21785469	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:21785469G>A	uc010nfq.1	+	c.1600G>A	c.(1600-1602)GAA>AAA	p.E534K	MBTPS2_uc004dab.1_Intron|MBTPS2_uc004dac.1_Intron|MBTPS2_uc010nfr.1_Intron|YY2_uc004dad.1_Missense_Mutation_p.E316K	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	316	Mediates transcriptional repression.|C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2														0.583208	1152.518598	1156.545963	389	278	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21785469	21785469	18092	23	G	A	A	37	37	YY2	A	1	1
PHEX	5251	broad.mit.edu	36	X	21961103	21961103	+	Missense_Mutation	SNP	G	A	A	rs34610947	unknown	TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:21961103G>A	uc004dah.1	+	c.59G>A	c.(58-60)CGA>CAA	p.R20Q		NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	20	Cytoplasmic (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3														0.280992	161.189888	171.62976	68	174	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21961103	21961103	12242	23	G	A	A	37	37	PHEX	A	1	1
PHEX	5251	broad.mit.edu	36	X	22039532	22039532	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:22039532G>T	uc004dah.1	+	c.1106G>T	c.(1105-1107)AGA>ATA	p.R369I		NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	369	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3														0.614433	861.675237	867.22402	298	187	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22039532	22039532	12242	23	G	T	T	33	33	PHEX	T	3	3
ZNF645	158506	broad.mit.edu	36	X	22201475	22201475	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:22201475C>T	uc004dai.1	+	c.446C>T	c.(445-447)TCG>TTG	p.S149L		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	149						intracellular	zinc ion binding			lung(1)|pancreas(1)	2														0.340426	165.83897	170.071958	64	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22201475	22201475	18656	23	C	T	T	31	31	ZNF645	T	1	1
SAT1	6303	broad.mit.edu	36	X	23711696	23711696	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:23711696G>A	uc004dau.1	+	c.67G>A	c.(67-69)GAG>AAG	p.E23K	SAT1_uc010nfv.1_Missense_Mutation_p.E23K|SAT1_uc004dav.1_Non-coding_Transcript|SAT1_uc010nfw.1_5'UTR	NM_002970	NP_002961	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase	23	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding				0					Spermine(DB00127)									0.306452	49.002625	51.073363	19	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23711696	23711696	14332	23	G	A	A	41	41	SAT1	A	2	2
CXorf58	254158	broad.mit.edu	36	X	23863382	23863382	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:23863382G>T	uc004daz.1	+	c.704G>T	c.(703-705)CGA>CTA	p.R235L		NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	235											0														0.213018	75.105576	87.970963	36	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23863382	23863382	4278	23	G	T	T	37	37	CXorf58	T	3	3
EIF2S3	1968	broad.mit.edu	36	X	23999707	23999707	+	Missense_Mutation	SNP	A	T	T			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:23999707A>T	uc004dbc.1	+	c.1124A>T	c.(1123-1125)TAT>TTT	p.Y375F		NM_001415	NP_001406	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2,	375						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			lung(1)	1														0.110429	16.96754	41.412157	18	145	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23999707	23999707	5200	23	A	T	T	16	16	EIF2S3	T	4	4
ZFX	7543	broad.mit.edu	36	X	24138260	24138260	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:24138260T>C	uc004dbf.1	+	c.1264T>C	c.(1264-1266)TTG>CTG	p.L422L	ZFX_uc004dbe.1_3'UTR|ZFX_uc010nfz.1_Silent_p.L78L	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|transcription regulator activity|zinc ion binding			ovary(2)	2						Esophageal Squamous(20;306 562 7346 32868 37983)								0.302041	235.366999	243.932713	74	171	TT		KEEP	---	---	---	---	capture			Silent	SNP	24138260	24138260	18251	23	T	C	C	64	64	ZFX	C	4	4
ZFX	7543	broad.mit.edu	36	X	24139385	24139385	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:24139385C>T	uc004dbf.1	+	c.2389C>T	c.(2389-2391)CGA>TGA	p.R797*	ZFX_uc004dbe.1_3'UTR|ZFX_uc010nfz.1_Nonsense_Mutation_p.R453*	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	797	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|transcription regulator activity|zinc ion binding			ovary(2)	2						Esophageal Squamous(20;306 562 7346 32868 37983)								0.303571	81.610751	85.46642	34	78	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	24139385	24139385	18251	23	C	T	T	27	27	ZFX	T	5	1
PDK3	5165	broad.mit.edu	36	X	24455681	24455681	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:24455681G>A	uc004dbh.1	+	c.820G>A	c.(820-822)GTT>ATT	p.V274I	PDK3_uc004dbg.1_Missense_Mutation_p.V274I	NM_005391	NP_005382	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3 isoform	274	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6										227				0.591837	85.878736	86.239109	29	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24455681	24455681	12098	23	G	A	A	40	40	PDK3	A	1	1
PCYT1B	9468	broad.mit.edu	36	X	24503289	24503289	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:24503289C>A	uc004dbi.1	-	c.776G>T	c.(775-777)AGA>ATA	p.R259I	PCYT1B_uc004dbj.1_Missense_Mutation_p.R241I|PCYT1B_uc004dbk.2_Missense_Mutation_p.R259I	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	259						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)									0.245399	84.901828	94.5415	40	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24503289	24503289	12032	23	C	A	A	32	32	PCYT1B	A	3	3
POLA1	5422	broad.mit.edu	36	X	24738794	24738794	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:24738794A>C	uc004dbl.1	+	c.3028A>C	c.(3028-3030)ACC>CCC	p.T1010P		NM_016937	NP_058633	P09884	DPOLA_HUMAN	polymerase (DNA-directed), alpha	1010					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)									0.209459	82.851405	94.408754	31	117	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24738794	24738794	12615	23	A	C	C	6	6	POLA1	C	4	4
POLA1	5422	broad.mit.edu	36	X	24740773	24740773	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:24740773G>A	uc004dbl.1	+	c.3150G>A	c.(3148-3150)CTG>CTA	p.L1050L		NM_016937	NP_058633	P09884	DPOLA_HUMAN	polymerase (DNA-directed), alpha	1050	Poly-Leu.				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)									0.607407	243.261746	244.622059	82	53	GG		KEEP	---	---	---	---	capture			Silent	SNP	24740773	24740773	12615	23	G	A	A	45	45	POLA1	A	2	2
POLA1	5422	broad.mit.edu	36	X	24816081	24816081	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:24816081G>A	uc004dbl.1	+	c.4067G>A	c.(4066-4068)CGA>CAA	p.R1356Q		NM_016937	NP_058633	P09884	DPOLA_HUMAN	polymerase (DNA-directed), alpha	1356	Potential.|C4-type.				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)									0.278788	108.970096	116.240356	46	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24816081	24816081	12615	23	G	A	A	37	37	POLA1	A	1	1
MAGEB18	286514	broad.mit.edu	36	X	26067975	26067975	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:26067975G>T	uc004dbq.1	+	c.952G>T	c.(952-954)GCT>TCT	p.A318S	MAGEB18_uc010ngb.1_Missense_Mutation_p.A318S	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	318							protein binding			central_nervous_system(1)	1														0.536585	61.444437	61.491529	22	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26067975	26067975	9556	23	G	T	T	34	34	MAGEB18	T	3	3
XG	7499	broad.mit.edu	36	X	2717709	2717709	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:2717709G>A	uc004cqp.1	+	c.215G>A	c.(214-216)CGC>CAC	p.R72H	XG_uc010ndb.1_Non-coding_Transcript|XG_uc004cqq.1_Missense_Mutation_p.R72H	NM_175569	NP_780778	P55808	XG_HUMAN	XG glycoprotein isoform 1 precursor	72	Extracellular (Potential).					integral to membrane				ovary(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)												0.272727	13.838616	14.864166	6	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2717709	2717709	18008	23	G	A	A	38	38	XG	A	1	1
MAGEB10	139422	broad.mit.edu	36	X	27749390	27749390	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:27749390C>T	uc004dbw.1	+	c.46C>T	c.(46-48)CGT>TGT	p.R16C	MAGEB10_uc010nge.1_Missense_Mutation_p.R16C	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	16										lung(1)|breast(1)|central_nervous_system(1)	3														0.19469	46.785632	56.609939	22	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27749390	27749390	9554	23	C	T	T	23	23	MAGEB10	T	1	1
DCAF8L1	139425	broad.mit.edu	36	X	27909228	27909228	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:27909228C>T	uc004dbx.1	-	c.145G>A	c.(145-147)GGA>AGA	p.G49R		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	WD repeat domain 42B	49										ovary(3)	3														0.1875	33.294004	42.078488	18	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27909228	27909228	4448	23	C	T	T	23	23	DCAF8L1	T	1	1
ARSD	414	broad.mit.edu	36	X	2843667	2843667	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:2843667C>T	uc004cqy.1	-	c.930G>A	c.(928-930)ACG>ACA	p.T310T	ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Silent_p.T310T	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	310						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.273585	69.431786	74.326835	29	77	CC		KEEP	---	---	---	---	capture			Silent	SNP	2843667	2843667	1007	23	C	T	T	31	31	ARSD	T	1	1
IL1RAPL1	11141	broad.mit.edu	36	X	29211238	29211238	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:29211238C>A	uc004dby.2	+	c.345C>A	c.(343-345)CTC>CTA	p.L115L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	115	Ig-like C2-type 1.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.3125	133.246488	138.763222	55	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	29211238	29211238	7962	23	C	A	A	32	32	IL1RAPL1	A	3	3
IL1RAPL1	11141	broad.mit.edu	36	X	29324301	29324301	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:29324301C>A	uc004dby.2	+	c.368C>A	c.(367-369)TCC>TAC	p.S123Y		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	123	Ig-like C2-type 1.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.192771	27.543729	34.868873	16	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29324301	29324301	7962	23	C	A	A	30	30	IL1RAPL1	A	3	3
IL1RAPL1	11141	broad.mit.edu	36	X	29869728	29869728	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:29869728C>T	uc004dby.2	+	c.1097C>T	c.(1096-1098)GCT>GTT	p.A366V		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	366	Helical; (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.570766	770.584872	772.466456	246	185	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29869728	29869728	7962	23	C	T	T	28	28	IL1RAPL1	T	2	2
IL1RAPL1	11141	broad.mit.edu	36	X	29883265	29883265	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:29883265C>A	uc004dby.2	+	c.1498C>A	c.(1498-1500)CTT>ATT	p.L500I		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	500	Cytoplasmic (Potential).|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.309645	151.185809	157.555302	61	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29883265	29883265	7962	23	C	A	A	28	28	IL1RAPL1	A	3	3
IL1RAPL1	11141	broad.mit.edu	36	X	29883810	29883810	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:29883810C>T	uc004dby.2	+	c.2043C>T	c.(2041-2043)ATC>ATT	p.I681I		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	681	Cytoplasmic (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.323944	57.597779	59.552743	23	48	CC		KEEP	---	---	---	---	capture			Silent	SNP	29883810	29883810	7962	23	C	T	T	30	30	IL1RAPL1	T	2	2
ARSF	416	broad.mit.edu	36	X	3008953	3008953	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:3008953G>T	uc004cre.1	+	c.305G>T	c.(304-306)AGA>ATA	p.R102I	ARSF_uc004crf.1_Missense_Mutation_p.R102I	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	102						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		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)												0.25974	43.858	47.888517	20	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3008953	3008953	1009	23	G	T	T	33	33	ARSF	T	3	3
MAGEB3	4114	broad.mit.edu	36	X	30164518	30164518	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30164518C>A	uc004dca.1	+	c.556C>A	c.(556-558)CTC>ATC	p.L186I	MAGEB3_uc010ngg.1_Missense_Mutation_p.L186I	NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	186	MAGE.										0														0.358974	104.5044	106.558576	42	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30164518	30164518	9558	23	C	A	A	32	32	MAGEB3	A	3	3
MAGEB1	4112	broad.mit.edu	36	X	30178928	30178928	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30178928G>T	uc004dcc.1	+	c.397G>T	c.(397-399)GAT>TAT	p.D133Y	MAGEB1_uc004dcd.1_Missense_Mutation_p.D133Y|MAGEB1_uc004dce.1_Missense_Mutation_p.D133Y|MAGEB1_uc010ngh.1_Missense_Mutation_p.D133Y	NM_002363	NP_803134	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	133	MAGE.										0														0.230769	36.701136	41.890988	18	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30178928	30178928	9553	23	G	T	T	33	33	MAGEB1	T	3	3
MAGEB1	4112	broad.mit.edu	36	X	30179253	30179253	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30179253C>T	uc004dcc.1	+	c.722C>T	c.(721-723)CCC>CTC	p.P241L	MAGEB1_uc004dcd.1_Missense_Mutation_p.P241L|MAGEB1_uc004dce.1_Missense_Mutation_p.P241L|MAGEB1_uc010ngh.1_Missense_Mutation_p.P241L	NM_002363	NP_803134	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	241	MAGE.										0														0.280899	64.11919	67.973255	25	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30179253	30179253	9553	23	C	T	T	22	22	MAGEB1	T	2	2
GK	2710	broad.mit.edu	36	X	30648972	30648972	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30648972C>T	uc010ngj.1	+	c.1422C>T	c.(1420-1422)CTC>CTT	p.L474L	GK_uc004dch.2_Silent_p.L480L|GK_uc004dci.2_Silent_p.L474L|GK_uc010ngk.1_Silent_p.L269L	NM_001128127	NP_001121599	P32189	GLPK_HUMAN	glycerol kinase isoform c	480					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1														0.580645	106.305132	106.656847	36	26	CC		KEEP	---	---	---	---	capture			Silent	SNP	30648972	30648972	6688	23	C	T	T	31	31	GK	T	1	1
GK	2710	broad.mit.edu	36	X	30655506	30655506	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30655506G>T	uc010ngj.1	+	c.1567G>T	c.(1567-1569)GAC>TAC	p.D523Y	GK_uc004dch.2_Intron|GK_uc004dci.2_Intron|GK_uc010ngk.1_Missense_Mutation_p.D318Y	NM_001128127	NP_001121599	P32189	GLPK_HUMAN	glycerol kinase isoform c	529					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1														0.166667	15.537953	21.23046	9	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30655506	30655506	6688	23	G	T	T	45	45	GK	T	3	3
TAB3	257397	broad.mit.edu	36	X	30782330	30782330	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30782330G>A	uc004dcj.1	-	c.1373C>T	c.(1372-1374)ACC>ATC	p.T458I	TAB3_uc004dck.1_Missense_Mutation_p.T458I|TAB3_uc010ngl.1_Missense_Mutation_p.T458I	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	458					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB 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|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						Pancreas(164;1598 1985 29022 43301 49529)								0.295699	136.641753	143.59304	55	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30782330	30782330	16018	23	G	A	A	44	44	TAB3	A	2	2
DMD	1756	broad.mit.edu	36	X	32145029	32145029	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:32145029T>C	uc004dda.1	-	c.6363A>G	c.(6361-6363)ACA>ACG	p.T2121T	DMD_uc004dcw.2_Silent_p.T777T|DMD_uc004dcx.2_Silent_p.T780T|DMD_uc004dcz.2_Silent_p.T1998T|DMD_uc004dcy.1_Silent_p.T2117T|DMD_uc004ddb.1_Silent_p.T2113T|DMD_uc010ngo.1_Silent_p.T30T|DMD_uc010ngn.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2121	Spectrin 15.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.328947	68.337633	70.315048	25	51	TT		KEEP	---	---	---	---	capture			Silent	SNP	32145029	32145029	4760	23	T	C	C	55	55	DMD	C	4	4
DMD	1756	broad.mit.edu	36	X	32366293	32366293	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:32366293C>T	uc004dda.1	-	c.4057G>A	c.(4057-4059)GAA>AAA	p.E1353K	DMD_uc004dcz.2_Missense_Mutation_p.E1230K|DMD_uc004dcy.1_Missense_Mutation_p.E1349K|DMD_uc004ddb.1_Missense_Mutation_p.E1345K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1353	Spectrin 9.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.557971	231.68496	232.089672	77	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32366293	32366293	4760	23	C	T	T	30	30	DMD	T	2	2
MXRA5	25878	broad.mit.edu	36	X	3248788	3248788	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:3248788C>T	uc004crg.2	-	c.4938G>A	c.(4936-4938)CCG>CCA	p.P1646P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican	1646						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.266525	324.66412	347.758631	125	344	CC		KEEP	---	---	---	---	capture			Silent	SNP	3248788	3248788	10397	23	C	T	T	23	23	MXRA5	T	1	1
DMD	1756	broad.mit.edu	36	X	32493853	32493853	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:32493853G>A	uc004dda.1	-	c.1879C>T	c.(1879-1881)CTT>TTT	p.L627F	DMD_uc004dcz.2_Missense_Mutation_p.L504F|DMD_uc004dcy.1_Missense_Mutation_p.L623F|DMD_uc004ddb.1_Missense_Mutation_p.L619F|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L619F	NM_004006	NP_004001	P11532	DMD_HUMAN	dystrophin Dp427m isoform	627	Spectrin 3.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.281437	113.138786	120.319001	47	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32493853	32493853	4760	23	G	A	A	33	33	DMD	A	2	2
MXRA5	25878	broad.mit.edu	36	X	3249929	3249929	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:3249929C>A	uc004crg.2	-	c.3797G>T	c.(3796-3798)AGA>ATA	p.R1266I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican	1266						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.246575	153.130106	170.226007	72	220	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3249929	3249929	10397	23	C	A	A	32	32	MXRA5	A	3	3
FAM47A	158724	broad.mit.edu	36	X	34058819	34058819	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:34058819G>A	uc004ddg.1	-	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	500			Missing.							ovary(4)|central_nervous_system(1)	5														0.244048	86.175702	96.224221	41	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34058819	34058819	5790	23	G	A	A	37	37	FAM47A	A	1	1
FAM47B	170062	broad.mit.edu	36	X	34870962	34870962	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:34870962G>A	uc004ddi.1	+	c.93G>A	c.(91-93)GCG>GCA	p.A31A		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	31										ovary(3)|breast(1)	4														0.360656	57.93253	58.975269	22	39	GG		KEEP	---	---	---	---	capture			Silent	SNP	34870962	34870962	5791	23	G	A	A	37	37	FAM47B	A	1	1
FAM47B	170062	broad.mit.edu	36	X	34871389	34871389	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:34871389G>A	uc004ddi.1	+	c.520G>A	c.(520-522)GAG>AAG	p.E174K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	174										ovary(3)|breast(1)	4														0.305556	51.410296	53.846504	22	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34871389	34871389	5791	23	G	A	A	37	37	FAM47B	A	1	1
FAM47B	170062	broad.mit.edu	36	X	34871501	34871501	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:34871501G>A	uc004ddi.1	+	c.632G>A	c.(631-633)CGC>CAC	p.R211H		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	211	Pro-rich.									ovary(3)|breast(1)	4														0.286957	75.125804	79.81104	33	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34871501	34871501	5791	23	G	A	A	38	38	FAM47B	A	1	1
FAM47B	170062	broad.mit.edu	36	X	34871734	34871734	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:34871734G>A	uc004ddi.1	+	c.865G>A	c.(865-867)GAG>AAG	p.E289K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	289	Pro-rich.									ovary(3)|breast(1)	4														0.298701	112.490065	118.068124	46	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34871734	34871734	5791	23	G	A	A	37	37	FAM47B	A	1	1
MAGEB16	139604	broad.mit.edu	36	X	35730449	35730449	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:35730449C>A	uc010ngt.1	+	c.215C>A	c.(214-216)TCC>TAC	p.S72Y	MAGEB16_uc010ngu.1_Missense_Mutation_p.S72Y	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	72										lung(3)|ovary(2)|breast(1)	6										43				0.3125	23.645175	24.643115	10	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35730449	35730449	9555	23	C	A	A	30	30	MAGEB16	A	3	3
CXorf59	286464	broad.mit.edu	36	X	36032679	36032679	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:36032679A>C	uc004ddk.1	+	c.995A>C	c.(994-996)AAC>ACC	p.N332T		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	332						integral to membrane				central_nervous_system(1)	1														0.55	265.178143	265.482187	77	63	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36032679	36032679	4279	23	A	C	C	2	2	CXorf59	C	4	4
CXorf59	286464	broad.mit.edu	36	X	36072711	36072711	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:36072711G>T	uc004ddk.1	+	c.1373G>T	c.(1372-1374)AGA>ATA	p.R458I		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	458						integral to membrane				central_nervous_system(1)	1														0.214286	26.374774	31.666034	15	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36072711	36072711	4279	23	G	T	T	33	33	CXorf59	T	3	3
FAM47C	442444	broad.mit.edu	36	X	36936513	36936513	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:36936513C>T	uc004ddl.1	+	c.109C>T	c.(109-111)CGC>TGC	p.R37C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	37										ovary(3)	3														0.585366	129.195485	129.717137	48	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36936513	36936513	5792	23	C	T	T	27	27	FAM47C	T	1	1
FAM47C	442444	broad.mit.edu	36	X	36937272	36937272	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:36937272C>T	uc004ddl.1	+	c.868C>T	c.(868-870)CGC>TGC	p.R290C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	290										ovary(3)	3														0.322148	121.948699	126.133681	48	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36937272	36937272	5792	23	C	T	T	31	31	FAM47C	T	1	1
XK	7504	broad.mit.edu	36	X	37472645	37472645	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:37472645C>T	uc004ddq.1	+	c.1326C>T	c.(1324-1326)TGC>TGT	p.C442C		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	442	Cytoplasmic (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)												0.253846	85.709777	92.861378	33	97	CC		KEEP	---	---	---	---	capture			Silent	SNP	37472645	37472645	18012	23	C	T	T	28	28	XK	T	2	2
CYBB	1536	broad.mit.edu	36	X	37526312	37526312	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:37526312C>A	uc004ddr.2	+	c.73C>A	c.(73-75)CTC>ATC	p.L25I		NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	25	Helical; (Potential).				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2														0.605442	246.21205	247.625569	89	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37526312	37526312	4298	23	C	A	A	24	24	CYBB	A	3	3
SYTL5	94122	broad.mit.edu	36	X	37846623	37846623	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:37846623C>A	uc004ddx.1	+	c.1147C>A	c.(1147-1149)CTA>ATA	p.L383I	SYTL5_uc004ddu.1_Missense_Mutation_p.L383I|SYTL5_uc004ddv.1_Missense_Mutation_p.L383I|SYTL5_uc004ddw.1_Missense_Mutation_p.L383I	NM_138780	NP_620135	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	383					intracellular protein transport	membrane	Rab GTPase binding|zinc ion binding				0														0.248485	90.787099	100.288676	41	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37846623	37846623	16007	23	C	A	A	24	24	SYTL5	A	3	3
SYTL5	94122	broad.mit.edu	36	X	37854598	37854598	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:37854598C>A	uc004ddx.1	+	c.1581C>A	c.(1579-1581)AGC>AGA	p.S527R	SYTL5_uc004ddu.1_Missense_Mutation_p.S505R|SYTL5_uc004ddv.1_Missense_Mutation_p.S505R|SYTL5_uc004ddw.1_Missense_Mutation_p.S505R	NM_138780	NP_620135	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	505	C2 1.				intracellular protein transport	membrane	Rab GTPase binding|zinc ion binding				0														0.2723	138.407441	148.402962	58	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37854598	37854598	16007	23	C	A	A	28	28	SYTL5	A	3	3
SRPX	8406	broad.mit.edu	36	X	37918436	37918436	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:37918436C>A	uc004ddy.1	-	c.270G>T	c.(268-270)CAG>CAT	p.Q90H	SRPX_uc004ddz.1_Missense_Mutation_p.Q70H	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	90	Sushi 1.				cell adhesion	cell surface|membrane					0														0.259843	73.510589	80.14915	33	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37918436	37918436	15678	23	C	A	A	32	32	SRPX	A	3	3
BCOR	54880	broad.mit.edu	36	X	39807119	39807119	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:39807119G>A	uc004den.2	-	c.3997C>T	c.(3997-3999)CTG>TTG	p.L1333L	BCOR_uc004dep.2_Silent_p.L1299L|BCOR_uc004deo.2_Silent_p.L1281L|BCOR_uc010nhb.1_Silent_p.L41L|BCOR_uc004dem.2_Silent_p.L1299L	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1333					chromatin modification|heart development|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|odontogenesis|palate development|protein ubiquitination|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|promoter binding|transcription corepressor activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.613636	79.327892	79.824404	27	17	GG		KEEP	---	---	---	---	capture			Silent	SNP	39807119	39807119	1407	23	G	A	A	34	34	BCOR	A	2	2
BCOR	54880	broad.mit.edu	36	X	39818739	39818739	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:39818739C>T	uc004den.2	-	c.804G>A	c.(802-804)TCG>TCA	p.S268S	BCOR_uc004dep.2_Silent_p.S268S|BCOR_uc004deo.2_Silent_p.S268S|BCOR_uc004dem.2_Silent_p.S268S|BCOR_uc004deq.2_Silent_p.S268S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	268					chromatin modification|heart development|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|odontogenesis|palate development|protein ubiquitination|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|promoter binding|transcription corepressor activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.296296	19.789552	20.791611	8	19	CC		KEEP	---	---	---	---	capture			Silent	SNP	39818739	39818739	1407	23	C	T	T	31	31	BCOR	T	1	1
CXorf38	159013	broad.mit.edu	36	X	40381286	40381286	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40381286C>A	uc004dew.1	-	c.538G>T	c.(538-540)GAT>TAT	p.D180Y	CXorf38_uc004dev.1_Missense_Mutation_p.D61Y|CXorf38_uc010nhd.1_Non-coding_Transcript	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	180										ovary(1)	1														0.320988	125.825455	130.446459	52	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40381286	40381286	4268	23	C	A	A	32	32	CXorf38	A	3	3
MED14	9282	broad.mit.edu	36	X	40425087	40425087	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40425087G>A	uc004dex.2	-	c.2477C>T	c.(2476-2478)TCG>TTG	p.S826L		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	826					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4														0.25974	46.860839	50.88898	20	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40425087	40425087	9821	23	G	A	A	37	37	MED14	A	1	1
MED14	9282	broad.mit.edu	36	X	40436427	40436427	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40436427G>A	uc004dex.2	-	c.1932C>T	c.(1930-1932)TTC>TTT	p.F644F		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	644	Interaction with SREBF1.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4														0.628571	201.368253	202.892015	66	39	GG		KEEP	---	---	---	---	capture			Silent	SNP	40436427	40436427	9821	23	G	A	A	37	37	MED14	A	1	1
MED14	9282	broad.mit.edu	36	X	40457218	40457218	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40457218G>A	uc004dex.2	-	c.673C>T	c.(673-675)CGT>TGT	p.R225C	MED14_uc010nhe.1_Missense_Mutation_p.R109C	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	225	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4														0.254717	63.872863	69.661203	27	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40457218	40457218	9821	23	G	A	A	37	37	MED14	A	1	1
USP9X	8239	broad.mit.edu	36	X	40911747	40911747	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40911747C>A	uc004dfb.1	+	c.2397C>A	c.(2395-2397)AAC>AAA	p.N799K	USP9X_uc004dfc.1_Missense_Mutation_p.N799K	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	799					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.357798	104.89073	106.833485	39	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40911747	40911747	17654	23	C	A	A	18	18	USP9X	A	3	3
USP9X	8239	broad.mit.edu	36	X	40916149	40916149	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40916149C>T	uc004dfb.1	+	c.3142C>T	c.(3142-3144)CCG>TCG	p.P1048S	USP9X_uc004dfc.1_Missense_Mutation_p.P1048S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1048					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.222222	89.730325	102.490491	40	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40916149	40916149	17654	23	C	T	T	26	26	USP9X	T	2	2
USP9X	8239	broad.mit.edu	36	X	40928323	40928323	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40928323G>T	uc004dfb.1	+	c.3277G>T	c.(3277-3279)GAG>TAG	p.E1093*	USP9X_uc004dfc.1_Nonsense_Mutation_p.E1093*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1093					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.326271	183.76472	190.098902	77	159	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	40928323	40928323	17654	23	G	T	T	33	33	USP9X	T	5	3
USP9X	8239	broad.mit.edu	36	X	40960450	40960450	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40960450C>T	uc004dfb.1	+	c.5686C>T	c.(5686-5688)CGC>TGC	p.R1896C	USP9X_uc004dfc.1_Missense_Mutation_p.R1896C	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1896					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.291925	116.456039	122.701988	47	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40960450	40960450	17654	23	C	T	T	31	31	USP9X	T	1	1
USP9X	8239	broad.mit.edu	36	X	40967474	40967474	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40967474C>A	uc004dfb.1	+	c.6626C>A	c.(6625-6627)TCT>TAT	p.S2209Y	USP9X_uc004dfc.1_Missense_Mutation_p.S2209Y	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2209					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.66443	285.339206	288.895473	99	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40967474	40967474	17654	23	C	A	A	32	32	USP9X	A	3	3
USP9X	8239	broad.mit.edu	36	X	40969151	40969151	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:40969151C>T	uc004dfb.1	+	c.6964C>T	c.(6964-6966)CTC>TTC	p.L2322F	USP9X_uc004dfc.1_Missense_Mutation_p.L2322F	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2322					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.600962	403.208258	405.062345	125	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40969151	40969151	17654	23	C	T	T	32	32	USP9X	T	2	2
NYX	60506	broad.mit.edu	36	X	41218711	41218711	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:41218711C>T	uc004dfh.1	+	c.1061C>T	c.(1060-1062)TCC>TTC	p.S354F	NYX_uc004dfi.1_Missense_Mutation_p.S354F	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	354	LRRCT.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2														0.257143	20.560749	22.43111	9	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41218711	41218711	11202	23	C	T	T	30	30	NYX	T	2	2
CASK	8573	broad.mit.edu	36	X	41275377	41275377	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:41275377C>T	uc004dfl.2	-	c.2332G>A	c.(2332-2334)GAA>AAA	p.E778K	CASK_uc004dfj.2_Missense_Mutation_p.E323K|CASK_uc004dfk.2_Missense_Mutation_p.E598K|CASK_uc004dfm.2_Missense_Mutation_p.E755K|CASK_uc004dfn.2_Missense_Mutation_p.E754K	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	783	Guanylate kinase-like.				cell adhesion|protein phosphorylation	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						NSCLC(42;104 1086 3090 27189 35040)				254				0.294393	168.031291	176.132636	63	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41275377	41275377	2784	23	C	T	T	32	32	CASK	T	2	2
CASK	8573	broad.mit.edu	36	X	41370886	41370886	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:41370886G>A	uc004dfl.2	-	c.930C>T	c.(928-930)GCC>GCT	p.A310A	CASK_uc004dfk.2_Silent_p.A125A|CASK_uc004dfm.2_Silent_p.A310A|CASK_uc004dfn.2_Silent_p.A310A	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	310	Calmodulin-binding.				cell adhesion|protein phosphorylation	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						NSCLC(42;104 1086 3090 27189 35040)				254				0.234375	38.793437	42.92389	15	49	GG		KEEP	---	---	---	---	capture			Silent	SNP	41370886	41370886	2784	23	G	A	A	39	39	CASK	A	1	1
CASK	8573	broad.mit.edu	36	X	41415715	41415715	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:41415715G>T	uc004dfl.2	-	c.442C>A	c.(442-444)CTC>ATC	p.L148I	CASK_uc004dfk.2_5'UTR|CASK_uc004dfm.2_Missense_Mutation_p.L148I|CASK_uc004dfn.2_Missense_Mutation_p.L148I	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	148	Protein kinase.				cell adhesion|protein phosphorylation	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						NSCLC(42;104 1086 3090 27189 35040)				254				0.338462	52.818358	54.323794	22	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41415715	41415715	2784	23	G	T	T	33	33	CASK	T	3	3
MAOB	4129	broad.mit.edu	36	X	43513590	43513590	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:43513590C>T	uc004dfz.2	-	c.1255G>A	c.(1255-1257)GAC>AAC	p.D419N		NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	419	Cytoplasmic.				oxidation-reduction process|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)									0.36	100.66932	102.396132	36	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43513590	43513590	9609	23	C	T	T	30	30	MAOB	T	2	2
NDP	4693	broad.mit.edu	36	X	43694189	43694189	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:43694189G>A	uc004dga.2	-	c.202C>T	c.(202-204)CAC>TAC	p.H68Y		NM_000266	NP_000257	Q00604	NDP_HUMAN	norrin precursor	68	CTCK.				cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception|Wnt receptor signaling pathway	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity				0												OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.333333	19.257223	19.925837	9	18	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43694189	43694189	10649	23	G	A	A	46	46	NDP	A	2	2
EFHC2	80258	broad.mit.edu	36	X	43922642	43922642	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:43922642C>T	uc004dgb.2	-	c.1864G>A	c.(1864-1866)GCA>ACA	p.A622T		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	622							calcium ion binding			breast(3)|ovary(2)|central_nervous_system(1)	6														0.270833	29.350568	31.626995	13	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43922642	43922642	5135	23	C	T	T	27	27	EFHC2	T	1	1
EFHC2	80258	broad.mit.edu	36	X	43973928	43973928	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:43973928C>A	uc004dgb.2	-	c.1662G>T	c.(1660-1662)AAG>AAT	p.K554N		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	554							calcium ion binding			breast(3)|ovary(2)|central_nervous_system(1)	6														0.208791	83.151848	97.441149	38	144	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43973928	43973928	5135	23	C	A	A	28	28	EFHC2	A	3	3
DUSP21	63904	broad.mit.edu	36	X	44588628	44588628	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:44588628G>A	uc004dgd.1	+	c.306G>A	c.(304-306)ACG>ACA	p.T102T		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	102	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2														0.247126	93.938833	104.068504	43	131	GG		KEEP	---	---	---	---	capture			Silent	SNP	44588628	44588628	5005	23	G	A	A	38	38	DUSP21	A	1	1
ZNF673	55634	broad.mit.edu	36	X	46217318	46217318	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46217318C>T	uc004dgn.2	+	c.443C>T	c.(442-444)TCG>TTG	p.S148L	ZNF673_uc004dgp.2_3'UTR|ZNF673_uc010nhl.1_3'UTR|ZNF673_uc004dgm.2_Missense_Mutation_p.S143L	NM_001129898	NP_001123370	Q5JUW0	ZN673_HUMAN	zinc finger family member 673 isoform 1	148					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0														0.654762	167.140968	168.91643	55	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46217318	46217318	18675	23	C	T	T	31	31	ZNF673	T	1	1
ZNF674	641339	broad.mit.edu	36	X	46244455	46244455	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46244455C>T	uc004dgr.1	-	c.1513G>A	c.(1513-1515)GCC>ACC	p.A505T		NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	zinc finger family member 674	505	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2														0.202128	40.771435	48.521157	19	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46244455	46244455	18676	23	C	T	T	28	28	ZNF674	T	2	2
CHST7	56548	broad.mit.edu	36	X	46319097	46319097	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46319097C>A	uc004dgt.1	+	c.787C>A	c.(787-789)CTG>ATG	p.L263M	CHST7_uc010nhn.1_Missense_Mutation_p.L263M	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	263	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3														0.363636	31.689219	32.229793	12	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46319097	46319097	3543	23	C	A	A	24	24	CHST7	A	3	3
CHST7	56548	broad.mit.edu	36	X	46319713	46319713	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46319713C>T	uc004dgt.1	+	c.1403C>T	c.(1402-1404)GCG>GTG	p.A468V	CHST7_uc010nhn.1_Missense_Mutation_p.A468V	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	468	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3														0.333333	12.669815	13.038917	5	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46319713	46319713	3543	23	C	T	T	27	27	CHST7	T	1	1
RP2	6102	broad.mit.edu	36	X	46598110	46598110	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46598110C>T	uc004dgw.2	+	c.358C>T	c.(358-360)CGA>TGA	p.R120*		NM_006915	NP_008846	O75695	XRP2_HUMAN	XRP2 protein	120	C-CAP/cofactor C-like.			R->H: Reduces affinity for mouse ARL3; when associated with S-121.	cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|response to stimulus|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding				0														0.267647	213.070431	229.649123	91	249	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	46598110	46598110	14013	23	C	T	T	27	27	RP2	T	5	1
RBM10	8241	broad.mit.edu	36	X	46919384	46919384	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46919384C>T	uc004dhi.1	+	c.720C>T	c.(718-720)TTC>TTT	p.F240F	RBM10_uc004dhf.1_Silent_p.F175F|RBM10_uc004dhg.1_Silent_p.F98F|RBM10_uc004dhh.1_Silent_p.F175F|RBM10_uc010nhq.1_Silent_p.F98F|RBM10_uc004dhe.1_Intron	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	175	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3						Melanoma(171;120 2705 19495 39241)								0.295455	94.57126	99.513733	39	93	CC		KEEP	---	---	---	---	capture			Silent	SNP	46919384	46919384	13572	23	C	T	T	31	31	RBM10	T	1	1
RBM10	8241	broad.mit.edu	36	X	46924586	46924586	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46924586C>T	uc004dhi.1	+	c.1289C>T	c.(1288-1290)GCC>GTC	p.A430V	RBM10_uc004dhf.1_Missense_Mutation_p.A365V|RBM10_uc004dhg.1_Missense_Mutation_p.A287V|RBM10_uc004dhh.1_Missense_Mutation_p.A364V|RBM10_uc010nhq.1_Missense_Mutation_p.A288V	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	365	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3						Melanoma(171;120 2705 19495 39241)								0.5	27.919436	27.919436	11	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46924586	46924586	13572	23	C	T	T	26	26	RBM10	T	2	2
CDK16	5127	broad.mit.edu	36	X	46970162	46970162	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46970162G>T	uc004dhn.1	+	c.682G>T	c.(682-684)GAC>TAC	p.D228Y	CDK16_uc004dho.1_Missense_Mutation_p.D228Y	NM_033018	NP_148978	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 2	228	Protein kinase.				protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1										79				0.602941	118.97721	119.605425	41	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46970162	46970162	3261	23	G	T	T	45	45	CDK16	T	3	3
CDK16	5127	broad.mit.edu	36	X	46971206	46971206	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46971206G>A	uc004dhn.1	+	c.1089G>A	c.(1087-1089)CCG>CCA	p.P363P	CDK16_uc004dho.1_Silent_p.P363P	NM_033018	NP_148978	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 2	363	Protein kinase.				protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1										79				0.623188	135.943711	136.866496	43	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	46971206	46971206	3261	23	G	A	A	39	39	CDK16	A	1	1
SYN1	6853	broad.mit.edu	36	X	47317228	47317228	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47317228G>A	uc004die.1	-	c.2097C>T	c.(2095-2097)TTC>TTT	p.F699F	SYN1_uc004did.1_3'UTR	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	699	E.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1														0.627907	306.580632	309.041171	108	64	GG		KEEP	---	---	---	---	capture			Silent	SNP	47317228	47317228	15961	23	G	A	A	37	37	SYN1	A	1	1
SYN1	6853	broad.mit.edu	36	X	47363757	47363757	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47363757G>A	uc004die.1	-	c.315C>T	c.(313-315)GGC>GGT	p.G105G	SYN1_uc004did.1_Silent_p.G105G	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	105	B; linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1														0.444444	20.59652	20.644921	8	10	GG		KEEP	---	---	---	---	capture			Silent	SNP	47363757	47363757	15961	23	G	A	A	38	38	SYN1	A	1	1
ELK1	2002	broad.mit.edu	36	X	47382240	47382240	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47382240G>A	uc004dik.2	-	c.940C>T	c.(940-942)CGG>TGG	p.R314W	ELK1_uc010nhv.1_Missense_Mutation_p.R314W|ELK1_uc010nhw.1_Missense_Mutation_p.R204W|ELK1_uc004dil.2_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	314					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 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	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(2)	2										33				0.25	10.876127	12.00557	5	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47382240	47382240	5251	23	G	A	A	39	39	ELK1	A	1	1
ZNF81	347344	broad.mit.edu	36	X	47590644	47590644	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47590644G>A	uc010nhy.1	+	c.34G>A	c.(34-36)GAA>AAA	p.E12K		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	12					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)												0.25	18.683159	20.50243	8	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47590644	47590644	18772	23	G	A	A	41	41	ZNF81	A	2	2
ZNF81	347344	broad.mit.edu	36	X	47659444	47659444	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47659444G>A	uc010nhy.1	+	c.455G>A	c.(454-456)CGC>CAC	p.R152H		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	152					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)												0.653333	143.478849	145.031149	49	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47659444	47659444	18772	23	G	A	A	38	38	ZNF81	A	1	1
ZNF81	347344	broad.mit.edu	36	X	47660001	47660001	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47660001G>A	uc010nhy.1	+	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	338	C2H2-type 1.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)												0.324324	93.759961	96.801222	36	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47660001	47660001	18772	23	G	A	A	42	42	ZNF81	A	2	2
ZNF81	347344	broad.mit.edu	36	X	47660187	47660187	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47660187G>T	uc010nhy.1	+	c.1198G>T	c.(1198-1200)GCC>TCC	p.A400S		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	400	C2H2-type 3.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)												0.32	82.859501	85.741065	32	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47660187	47660187	18772	23	G	T	T	34	34	ZNF81	T	3	3
ZNF182	7569	broad.mit.edu	36	X	47720762	47720762	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47720762C>A	uc004dir.1	-	c.1668G>T	c.(1666-1668)CAG>CAT	p.Q556H	ZNF182_uc004dis.1_Missense_Mutation_p.Q537H|ZNF182_uc004dit.1_Missense_Mutation_p.Q556H	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	556	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.212121	59.867926	69.952544	28	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47720762	47720762	18341	23	C	A	A	28	28	ZNF182	A	3	3
ZNF182	7569	broad.mit.edu	36	X	47727636	47727636	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47727636G>A	uc004dir.1	-	c.192C>T	c.(190-192)GTC>GTT	p.V64V	ZNF182_uc004dis.1_Silent_p.V45V|ZNF182_uc004dit.1_Silent_p.V64V|ZNF630_uc010nhz.1_Non-coding_Transcript	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.307229	140.35737	145.860094	51	115	GG		KEEP	---	---	---	---	capture			Silent	SNP	47727636	47727636	18341	23	G	A	A	33	33	ZNF182	A	2	2
ZNF630	57232	broad.mit.edu	36	X	47803911	47803911	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47803911C>A	uc004div.2	-	c.864G>T	c.(862-864)GAG>GAT	p.E288D	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.1_Missense_Mutation_p.E164D|ZNF630_uc010nia.1_Missense_Mutation_p.E164D	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2														0.307317	150.927926	157.725634	63	142	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47803911	47803911	18649	23	C	A	A	32	32	ZNF630	A	3	3
ZNF630	57232	broad.mit.edu	36	X	47804167	47804167	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47804167G>T	uc004div.2	-	c.608C>A	c.(607-609)CCC>CAC	p.P203H	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.1_Missense_Mutation_p.P79H|ZNF630_uc010nia.1_Missense_Mutation_p.P79H	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2														0.238095	66.37994	74.281108	30	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47804167	47804167	18649	23	G	T	T	43	43	ZNF630	T	3	3
SSX5	6758	broad.mit.edu	36	X	47938588	47938588	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47938588G>A	uc004diz.1	-	c.324C>T	c.(322-324)CTC>CTT	p.L108L	SSX5_uc004dja.1_Silent_p.L67L	NM_021015	NP_066295	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5 isoform a	67	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0														0.532995	311.776249	311.962684	105	92	GG		KEEP	---	---	---	---	capture			Silent	SNP	47938588	47938588	15726	23	G	A	A	41	41	SSX5	A	2	2
SLC38A5	92745	broad.mit.edu	36	X	48205090	48205090	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48205090A>G	uc010nid.1	-	c.809T>C	c.(808-810)GTC>GCC	p.V270A	SLC38A5_uc004djk.2_Missense_Mutation_p.V219A	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	270	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3														0.217391	26.831396	30.213826	10	36	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48205090	48205090	15104	23	A	G	G	10	10	SLC38A5	G	4	4
SLC38A5	92745	broad.mit.edu	36	X	48210406	48210406	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48210406G>A	uc010nid.1	-	c.132C>T	c.(130-132)TTC>TTT	p.F44F	SLC38A5_uc004djk.2_5'UTR	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	44	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3												OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.139535	7.618648	13.019754	6	37	GG		KEEP	---	---	---	---	capture			Silent	SNP	48210406	48210406	15104	23	G	A	A	37	37	SLC38A5	A	1	1
PORCN	64840	broad.mit.edu	36	X	48255245	48255245	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48255245C>A	uc010nie.1	+	c.351C>A	c.(349-351)ACC>ACA	p.T117T	PORCN_uc004djq.1_Silent_p.T230T|PORCN_uc004djr.1_Silent_p.T117T|PORCN_uc004djs.1_Silent_p.T117T|PORCN_uc004djt.1_Silent_p.T46T|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Silent_p.T117T|PORCN_uc004djw.1_Silent_p.T117T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	117	Extracellular (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3										97		OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.179856	52.610645	65.994351	25	114	CC		KEEP	---	---	---	---	capture			Silent	SNP	48255245	48255245	12687	23	C	A	A	23	23	PORCN	A	3	3
PORCN	64840	broad.mit.edu	36	X	48257900	48257900	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48257900T>G	uc010nie.1	+	c.889T>G	c.(889-891)TCA>GCA	p.S297A	PORCN_uc004djr.1_Missense_Mutation_p.S292A|PORCN_uc004djs.1_Missense_Mutation_p.S286A|PORCN_uc004djt.1_Missense_Mutation_p.S215A|PORCN_uc004dju.1_Missense_Mutation_p.S155A|PORCN_uc004djv.1_Missense_Mutation_p.S297A|PORCN_uc004djw.1_Missense_Mutation_p.S291A	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	297	Cytoplasmic (Potential).		S -> L (in FODH).		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3										97				0.281879	127.399017	133.760875	42	107	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48257900	48257900	12687	23	T	G	G	58	58	PORCN	G	4	4
TBC1D25	4943	broad.mit.edu	36	X	48303787	48303787	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48303787A>G	uc004dka.1	+	c.1547A>G	c.(1546-1548)AAC>AGC	p.N516S	TBC1D25_uc004dkb.1_Missense_Mutation_p.N262S|TBC1D25_uc004dkc.1_Missense_Mutation_p.N262S	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	516						intracellular	Rab GTPase activator activity			ovary(1)	1														0.520408	169.18584	169.219744	51	47	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48303787	48303787	16137	23	A	G	G	2	2	TBC1D25	G	4	4
WDR13	64743	broad.mit.edu	36	X	48342179	48342179	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48342179C>T	uc004dkh.1	+	c.172C>T	c.(172-174)CGG>TGG	p.R58W	WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.R58W|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.2_5'UTR	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	58						cytoplasm|nucleus				ovary(2)	2														0.190476	7.296905	9.171393	4	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48342179	48342179	17848	23	C	T	T	31	31	WDR13	T	1	1
WDR13	64743	broad.mit.edu	36	X	48345271	48345271	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48345271C>A	uc004dkh.1	+	c.987C>A	c.(985-987)TTC>TTA	p.F329L	WDR13_uc010nif.1_Missense_Mutation_p.F207L|WDR13_uc004dki.1_Missense_Mutation_p.F237L|WDR13_uc004dkj.1_Missense_Mutation_p.F329L|WDR13_uc004dkk.1_Missense_Mutation_p.F237L|WDR13_uc004dkl.2_Missense_Mutation_p.F237L	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	329	WD 3.					cytoplasm|nucleus				ovary(2)	2														0.296296	70.946101	74.962997	32	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48345271	48345271	17848	23	C	A	A	32	32	WDR13	A	3	3
WDR13	64743	broad.mit.edu	36	X	48348340	48348340	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48348340C>T	uc004dkh.1	+	c.1434C>T	c.(1432-1434)ATC>ATT	p.I478I	WDR13_uc004dki.1_Silent_p.I386I|WDR13_uc004dkj.1_Silent_p.I478I|WDR13_uc004dkk.1_Silent_p.I386I|WDR13_uc004dkl.2_Silent_p.I386I	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	478	WD 5.					cytoplasm|nucleus				ovary(2)	2														0.268657	41.021164	44.258078	18	49	CC		KEEP	---	---	---	---	capture			Silent	SNP	48348340	48348340	17848	23	C	T	T	31	31	WDR13	T	1	1
HDAC6	10013	broad.mit.edu	36	X	48561594	48561594	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48561594G>A	uc004dks.1	+	c.2018G>A	c.(2017-2019)CGC>CAC	p.R673H	HDAC6_uc010nig.1_Missense_Mutation_p.R521H|HDAC6_uc004dkt.1_Missense_Mutation_p.R673H|HDAC6_uc004dkv.1_Missense_Mutation_p.R321H|HDAC6_uc004dkw.1_Missense_Mutation_p.R321H|HDAC6_uc004dkx.1_5'Flank	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	673	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of hydrogen peroxide metabolic process|negative regulation of oxidoreductase activity|negative regulation of proteolysis|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of microtubule-based movement|regulation of receptor activity|regulation of transcription, DNA-dependent|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|specific transcriptional repressor activity|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)	3					Vorinostat(DB02546)	Pancreas(112;205 1675 2305 8976 15959)				170				0.5	28.949244	28.949244	10	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48561594	48561594	7294	23	G	A	A	38	38	HDAC6	A	1	1
PQBP1	10084	broad.mit.edu	36	X	48644178	48644178	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48644178C>T	uc004dle.1	+	c.207C>T	c.(205-207)GAC>GAT	p.D69D	PQBP1_uc004dlf.1_Silent_p.D69D|PQBP1_uc004dlg.1_Silent_p.D69D|PQBP1_uc004dld.1_Non-coding_Transcript|PQBP1_uc004dlh.1_Silent_p.D69D|PQBP1_uc004dli.1_Silent_p.D69D|PQBP1_uc004dlj.1_Silent_p.D69D|PQBP1_uc004dln.1_Silent_p.D69D|PQBP1_uc010nih.1_Non-coding_Transcript|PQBP1_uc010nii.1_Silent_p.D27D|PQBP1_uc004dlk.1_Silent_p.D69D|PQBP1_uc004dll.1_Silent_p.D31D|PQBP1_uc004dlm.1_Silent_p.D27D|PQBP1_uc010nij.1_Intron	NM_001032382	NP_005701	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	69	WW.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1														0.152	26.736871	41.242148	19	106	CC		KEEP	---	---	---	---	capture			Silent	SNP	48644178	48644178	12853	23	C	T	T	17	17	PQBP1	T	2	2
SLC35A2	7355	broad.mit.edu	36	X	48647190	48647190	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48647190G>A	uc004dlo.1	-	c.940C>T	c.(940-942)CGC>TGC	p.R314C	SLC35A2_uc004dlp.1_Missense_Mutation_p.R314C|SLC35A2_uc004dlq.1_Intron|SLC35A2_uc004dlr.1_Silent_p.F167F	NM_005660	NP_005651	P78381	S35A2_HUMAN	solute carrier family 35, member A2 isoform a	314					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)	1														0.282051	26.810189	28.473866	11	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48647190	48647190	15068	23	G	A	A	37	37	SLC35A2	A	1	1
KCND1	3750	broad.mit.edu	36	X	48704990	48704990	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48704990C>T	uc004dlx.1	-	c.1740G>A	c.(1738-1740)AAG>AAA	p.K580K	KCND1_uc004dlw.1_Silent_p.K203K	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	580	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3														0.481481	77.64391	77.66015	26	28	CC		KEEP	---	---	---	---	capture			Silent	SNP	48704990	48704990	8323	23	C	T	T	28	28	KCND1	T	2	2
GRIPAP1	56850	broad.mit.edu	36	X	48717668	48717668	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48717668C>A	uc004dly.1	-	c.2113G>T	c.(2113-2115)GAT>TAT	p.D705Y		NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	705	Potential.					early endosome				breast(2)|kidney(1)	3														0.619048	36.775617	37.035775	13	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48717668	48717668	7068	23	C	A	A	32	32	GRIPAP1	A	3	3
GRIPAP1	56850	broad.mit.edu	36	X	48722631	48722631	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48722631G>A	uc004dly.1	-	c.1870C>T	c.(1870-1872)CGG>TGG	p.R624W	GRIPAP1_uc004dlz.1_Missense_Mutation_p.R514W|GRIPAP1_uc004dma.1_Missense_Mutation_p.R545W	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	624	Potential.					early endosome		p.R267R(2)		breast(2)|kidney(1)	3														0.347826	36.09676	37.031795	16	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48722631	48722631	7068	23	G	A	A	40	40	GRIPAP1	A	1	1
GRIPAP1	56850	broad.mit.edu	36	X	48734910	48734910	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48734910C>A	uc004dly.1	-	c.331G>T	c.(331-333)GAG>TAG	p.E111*	GRIPAP1_uc004dlz.1_5'Flank|GRIPAP1_uc004dma.1_Intron	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	111	Potential.					early endosome				breast(2)|kidney(1)	3														0.340909	35.799246	36.789242	15	29	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	48734910	48734910	7068	23	C	A	A	30	30	GRIPAP1	A	5	3
GRIPAP1	56850	broad.mit.edu	36	X	48738708	48738708	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48738708G>A	uc004dly.1	-	c.204C>T	c.(202-204)GTC>GTT	p.V68V	GRIPAP1_uc004dma.1_Silent_p.V68V	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	68	Potential.					early endosome				breast(2)|kidney(1)	3														0.266667	9.092351	9.83077	4	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	48738708	48738708	7068	23	G	A	A	37	37	GRIPAP1	A	1	1
WDR45	11152	broad.mit.edu	36	X	48822650	48822650	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48822650C>A	uc004dmo.1	-	c.115G>T	c.(115-117)GAC>TAC	p.D39Y	WDR45_uc004dmj.1_5'Flank|WDR45_uc004dmk.1_Missense_Mutation_p.D17Y|WDR45_uc004dml.1_Missense_Mutation_p.D17Y|WDR45_uc004dmm.1_Missense_Mutation_p.D17Y|WDR45_uc010nim.1_Missense_Mutation_p.D17Y|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmp.1_Missense_Mutation_p.D17Y	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 1	17	WD 1.				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1														0.256	69.529251	76.288403	32	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48822650	48822650	17870	23	C	A	A	32	32	WDR45	A	3	3
PLP2	5355	broad.mit.edu	36	X	48916514	48916514	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48916514T>G	uc004dmx.1	+	c.191T>G	c.(190-192)TTT>TGT	p.F64C		NM_002668	NP_002659	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic	64	Helical; (Potential).|MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity				0														0.306452	117.009315	121.148053	38	86	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48916514	48916514	12531	23	T	G	G	64	64	PLP2	G	4	4
PRICKLE3	4007	broad.mit.edu	36	X	48921739	48921739	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48921739G>A	uc004dmy.1	-	c.594C>T	c.(592-594)ATC>ATT	p.I198I		NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	198	LIM zinc-binding 1.						protein binding|zinc ion binding			breast(1)	1														0.584615	111.754693	112.160701	38	27	GG		KEEP	---	---	---	---	capture			Silent	SNP	48921739	48921739	12931	23	G	A	A	37	37	PRICKLE3	A	1	1
CACNA1F	778	broad.mit.edu	36	X	48950133	48950133	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48950133C>A	uc004dnb.1	-	c.5392G>T	c.(5392-5394)GGT>TGT	p.G1798C	CACNA1F_uc010nip.1_Missense_Mutation_p.G1787C	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1798	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.349515	89.857515	91.920685	36	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48950133	48950133	2659	23	C	A	A	24	24	CACNA1F	A	3	3
CACNA1F	778	broad.mit.edu	36	X	48950411	48950411	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48950411G>A	uc004dnb.1	-	c.5263C>T	c.(5263-5265)CGG>TGG	p.R1755W	CACNA1F_uc010nip.1_Missense_Mutation_p.R1744W	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1755	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.333333	26.040114	26.778076	10	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48950411	48950411	2659	23	G	A	A	37	37	CACNA1F	A	1	1
CACNA1F	778	broad.mit.edu	36	X	48958929	48958929	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48958929G>A	uc004dnb.1	-	c.3288C>T	c.(3286-3288)ATC>ATT	p.I1096I	CACNA1F_uc010nip.1_Silent_p.I1085I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1096	Dihydropyridine binding (By similarity).|III.|Extracellular (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.166667	13.474361	18.528625	8	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	48958929	48958929	2659	23	G	A	A	37	37	CACNA1F	A	1	1
CACNA1F	778	broad.mit.edu	36	X	48959809	48959809	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48959809G>T	uc004dnb.1	-	c.3246C>A	c.(3244-3246)GTC>GTA	p.V1082V	CACNA1F_uc010nip.1_Silent_p.V1071V	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1082	Dihydropyridine binding (By similarity).|III.|Extracellular (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.192982	19.486509	24.508782	11	46	GG		KEEP	---	---	---	---	capture			Silent	SNP	48959809	48959809	2659	23	G	T	T	33	33	CACNA1F	T	3	3
CACNA1F	778	broad.mit.edu	36	X	48966379	48966379	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48966379G>A	uc004dnb.1	-	c.2071C>T	c.(2071-2073)CGA>TGA	p.R691*	CACNA1F_uc010nip.1_Nonsense_Mutation_p.R680*	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	691	Extracellular (Potential).|II.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.642857	52.052746	52.55509	18	10	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	48966379	48966379	2659	23	G	A	A	38	38	CACNA1F	A	5	1
CACNA1F	778	broad.mit.edu	36	X	48966444	48966444	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48966444A>G	uc004dnb.1	-	c.2006T>C	c.(2005-2007)ATC>ACC	p.I669T	CACNA1F_uc010nip.1_Missense_Mutation_p.I658T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	669	Helical; Name=S5 of repeat II; (Potential).|II.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.363636	23.995191	24.354613	8	14	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48966444	48966444	2659	23	A	G	G	12	12	CACNA1F	G	4	4
CACNA1F	778	broad.mit.edu	36	X	48971746	48971746	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48971746C>T	uc004dnb.1	-	c.925G>A	c.(925-927)GGC>AGC	p.G309S	CACNA1F_uc010nip.1_Missense_Mutation_p.G309S	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	309	I.|Extracellular (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.230769	29.487199	32.931479	12	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48971746	48971746	2659	23	C	T	T	24	24	CACNA1F	T	2	2
CCDC22	28952	broad.mit.edu	36	X	48991916	48991916	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48991916G>T	uc004dnd.1	+	c.1317G>T	c.(1315-1317)CAG>CAT	p.Q439H	CCDC22_uc004dnc.1_Non-coding_Transcript	NM_014008	NP_054727	O60826	CCD22_HUMAN	coiled-coil domain containing 22	439										central_nervous_system(1)	1														0.315789	42.717813	44.44498	18	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48991916	48991916	2919	23	G	T	T	35	35	CCDC22	T	3	3
FOXP3	50943	broad.mit.edu	36	X	48994835	48994835	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48994835G>A	uc010niq.1	-	c.1275C>T	c.(1273-1275)AGC>AGT	p.S425S	FOXP3_uc004dnf.2_Silent_p.S400S|FOXP3_uc004dne.2_Silent_p.S365S	NM_001114377	NP_001107849	Q9BZS1	FOXP3_HUMAN	forkhead box P3 isoform b	400	Fork-head.				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding				0	Ovarian(276;0.236)					GBM(182;1432 2112 16160 23073 31774)								0.236559	44.800286	50.705506	22	71	GG		KEEP	---	---	---	---	capture			Silent	SNP	48994835	48994835	6274	23	G	A	A	38	38	FOXP3	A	1	1
FOXP3	50943	broad.mit.edu	36	X	48999158	48999158	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48999158G>A	uc010niq.1	-	c.592C>T	c.(592-594)CTC>TTC	p.L198F	FOXP3_uc004dnf.2_Missense_Mutation_p.L233F|FOXP3_uc004dne.2_Missense_Mutation_p.L198F	NM_001114377	NP_001107849	Q9BZS1	FOXP3_HUMAN	forkhead box P3 isoform b	233					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding				0	Ovarian(276;0.236)					GBM(182;1432 2112 16160 23073 31774)								0.3	25.062663	26.13515	9	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48999158	48999158	6274	23	G	A	A	33	33	FOXP3	A	2	2
PPP1R3F	89801	broad.mit.edu	36	X	49029365	49029365	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:49029365C>A	uc004dnh.1	+	c.1269C>A	c.(1267-1269)CTC>CTA	p.L423L	PPP1R3F_uc004dni.1_Silent_p.L77L|PPP1R3F_uc004dnj.1_Silent_p.L77L	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	423	Extracellular (Potential).					integral to membrane				ovary(2)	2	Ovarian(276;0.236)													0.326923	37.729636	39.12589	17	35	CC		KEEP	---	---	---	---	capture			Silent	SNP	49029365	49029365	12810	23	C	A	A	32	32	PPP1R3F	A	3	3
PPP1R3F	89801	broad.mit.edu	36	X	49029589	49029589	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:49029589G>A	uc004dnh.1	+	c.1493G>A	c.(1492-1494)CGC>CAC	p.R498H	PPP1R3F_uc004dni.1_Missense_Mutation_p.R152H|PPP1R3F_uc004dnj.1_Missense_Mutation_p.R152H	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	498	Extracellular (Potential).					integral to membrane				ovary(2)	2	Ovarian(276;0.236)													0.3125	24.238767	25.240175	10	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49029589	49029589	12810	23	G	A	A	38	38	PPP1R3F	A	1	1
PPP1R3F	89801	broad.mit.edu	36	X	49030357	49030357	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:49030357C>A	uc004dnh.1	+	c.2261C>A	c.(2260-2262)GCA>GAA	p.A754E	PPP1R3F_uc004dni.1_Missense_Mutation_p.A408E|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A408E	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	754	Extracellular (Potential).					integral to membrane				ovary(2)	2	Ovarian(276;0.236)													0.273437	83.373401	89.292474	35	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49030357	49030357	12810	23	C	A	A	25	25	PPP1R3F	A	3	3
CCNB3	85417	broad.mit.edu	36	X	50068851	50068851	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50068851C>A	uc004dox.2	+	c.942C>A	c.(940-942)TCC>TCA	p.S314S	CCNB3_uc004doy.1_Silent_p.S314S|CCNB3_uc004doz.1_Intron|CCNB3_uc010njq.1_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	314					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.26009	130.023389	141.665315	58	165	CC		KEEP	---	---	---	---	capture			Silent	SNP	50068851	50068851	3041	23	C	A	A	24	24	CCNB3	A	3	3
CCNB3	85417	broad.mit.edu	36	X	50071130	50071130	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50071130C>T	uc004dox.2	+	c.3221C>T	c.(3220-3222)GCA>GTA	p.A1074V	CCNB3_uc004doy.1_Missense_Mutation_p.A1074V|CCNB3_uc004doz.1_Intron|CCNB3_uc010njq.1_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1074					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.310559	112.911306	118.10666	50	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50071130	50071130	3041	23	C	T	T	25	25	CCNB3	T	2	2
DGKK	139189	broad.mit.edu	36	X	50163328	50163328	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50163328T>G	uc010njr.1	-	c.1086A>C	c.(1084-1086)AAA>AAC	p.K362N		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	362	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)													0.270936	149.536813	159.142211	55	148	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50163328	50163328	4651	23	T	G	G	56	56	DGKK	G	4	4
SHROOM4	57477	broad.mit.edu	36	X	50393734	50393734	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50393734C>T	uc004dpe.1	-	c.2079G>A	c.(2077-2079)CAG>CAA	p.Q693Q	SHROOM4_uc004dpf.1_Silent_p.Q577Q	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	693					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding				0	Ovarian(276;0.236)													0.180556	24.530672	31.440224	13	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	50393734	50393734	14791	23	C	T	T	20	20	SHROOM4	T	2	2
SHROOM4	57477	broad.mit.edu	36	X	50393881	50393881	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50393881T>G	uc004dpe.1	-	c.1932A>C	c.(1930-1932)AAA>AAC	p.K644N	SHROOM4_uc004dpf.1_Missense_Mutation_p.K528N	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	644					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding				0	Ovarian(276;0.236)													0.23622	80.791861	88.865266	30	97	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50393881	50393881	14791	23	T	G	G	64	64	SHROOM4	G	4	4
SHROOM4	57477	broad.mit.edu	36	X	50394104	50394104	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50394104C>T	uc004dpe.1	-	c.1709G>A	c.(1708-1710)CGA>CAA	p.R570Q	SHROOM4_uc004dpf.1_Missense_Mutation_p.R454Q	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	570					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding				0	Ovarian(276;0.236)													0.338235	55.372668	56.961432	23	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50394104	50394104	14791	23	C	T	T	31	31	SHROOM4	T	1	1
SHROOM4	57477	broad.mit.edu	36	X	50394458	50394458	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50394458C>T	uc004dpe.1	-	c.1355G>A	c.(1354-1356)AGC>AAC	p.S452N	SHROOM4_uc004dpf.1_Missense_Mutation_p.S336N	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	452					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding				0	Ovarian(276;0.236)													0.264706	117.205069	125.708016	45	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50394458	50394458	14791	23	C	T	T	28	28	SHROOM4	T	2	2
SHROOM4	57477	broad.mit.edu	36	X	50395362	50395362	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50395362C>T	uc004dpe.1	-	c.451G>A	c.(451-453)GAG>AAG	p.E151K	SHROOM4_uc004dpf.1_Missense_Mutation_p.E35K	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	151					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding				0	Ovarian(276;0.236)													0.222222	36.593882	42.360217	18	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50395362	50395362	14791	23	C	T	T	31	31	SHROOM4	T	1	1
GSPT2	23708	broad.mit.edu	36	X	51504278	51504278	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:51504278T>C	uc004dpl.1	+	c.816T>C	c.(814-816)GGT>GGC	p.G272G		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	272					cell cycle|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)													0.252033	169.360237	183.08025	62	184	TT		KEEP	---	---	---	---	capture			Silent	SNP	51504278	51504278	7107	23	T	C	C	58	58	GSPT2	C	4	4
GSPT2	23708	broad.mit.edu	36	X	51505183	51505183	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:51505183G>A	uc004dpl.1	+	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	574					cell cycle|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)													0.270833	90.060488	96.883377	39	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51505183	51505183	7107	23	G	A	A	38	38	GSPT2	A	1	1
GSPT2	23708	broad.mit.edu	36	X	51505316	51505316	+	Silent	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:51505316A>C	uc004dpl.1	+	c.1854A>C	c.(1852-1854)GGA>GGC	p.G618G		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	618					cell cycle|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)													0.191919	48.77896	57.545725	19	80	AA		KEEP	---	---	---	---	capture			Silent	SNP	51505316	51505316	7107	23	A	C	C	9	9	GSPT2	C	4	4
MAGED1	9500	broad.mit.edu	36	X	51656722	51656722	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:51656722C>T	uc004dpn.1	+	c.1399C>T	c.(1399-1401)CCA>TCA	p.P467S	MAGED1_uc004dpm.1_Missense_Mutation_p.P411S|MAGED1_uc004dpo.1_Missense_Mutation_p.P411S	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform a	411	17.|Pro-rich.|22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)										Multiple Myeloma(10;0.10)			0.296296	17.285308	18.290173	8	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51656722	51656722	9564	23	C	T	T	26	26	MAGED1	T	2	2
SPANXN5	494197	broad.mit.edu	36	X	52842268	52842268	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:52842268C>A	uc004drc.1	-	c.204G>T	c.(202-204)GAG>GAT	p.E68D		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	68											0	Ovarian(276;0.236)													0.333333	201.272765	207.261336	81	162	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52842268	52842268	15502	23	C	A	A	32	32	SPANXN5	A	3	3
TSPYL2	64061	broad.mit.edu	36	X	53128982	53128982	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53128982C>A	uc004drw.1	+	c.577C>A	c.(577-579)CGG>AGG	p.R193R	TSPYL2_uc004drv.1_Silent_p.R193R|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	193	Arg-rich.				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0														0.423077	29.7472	29.873796	11	15	CC		KEEP	---	---	---	---	capture			Silent	SNP	53128982	53128982	17213	23	C	A	A	27	27	TSPYL2	A	3	3
TSPYL2	64061	broad.mit.edu	36	X	53132159	53132159	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53132159C>T	uc004drw.1	+	c.1860C>T	c.(1858-1860)TAC>TAT	p.Y620Y	TSPYL2_uc004drv.1_3'UTR|TSPYL2_uc004drx.1_Silent_p.Y225Y	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	620	Asp-rich.				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0														0.208333	39.243419	46.811408	20	76	CC		KEEP	---	---	---	---	capture			Silent	SNP	53132159	53132159	17213	23	C	T	T	19	19	TSPYL2	T	1	1
KDM5C	8242	broad.mit.edu	36	X	53247476	53247476	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53247476C>T	uc004drz.1	-	c.2042G>A	c.(2041-2043)CGA>CAA	p.R681Q	KDM5C_uc004dsa.1_Missense_Mutation_p.R680Q|KDM5C_uc010nkb.1_Missense_Mutation_p.R106Q	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C	681					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18														0.264706	85.836458	92.644585	36	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53247476	53247476	8441	23	C	T	T	31	31	KDM5C	T	1	1
KDM5C	8242	broad.mit.edu	36	X	53260686	53260686	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53260686G>A	uc004drz.1	-	c.1032C>T	c.(1030-1032)GGC>GGT	p.G344G	KDM5C_uc004dsa.1_Silent_p.G343G	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C	344	PHD-type 1.				chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18														0.278689	44.561667	47.241353	17	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	53260686	53260686	8441	23	G	A	A	34	34	KDM5C	A	2	2
IQSEC2	23096	broad.mit.edu	36	X	53287799	53287799	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53287799G>A	uc004dsd.1	-	c.2907C>T	c.(2905-2907)CAC>CAT	p.H969H	IQSEC2_uc004dsc.1_Silent_p.H764H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	959	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3														0.195652	16.945504	20.921075	9	37	GG		KEEP	---	---	---	---	capture			Silent	SNP	53287799	53287799	8121	23	G	A	A	44	44	IQSEC2	A	2	2
SMC1A	8243	broad.mit.edu	36	X	53449214	53449214	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53449214G>A	uc004dsg.1	-	c.1847C>T	c.(1846-1848)GCC>GTC	p.A616V	SMC1A_uc004dsh.1_Missense_Mutation_p.A594V	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	616	Flexible hinge.				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)	5														0.597826	161.969143	162.75566	55	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53449214	53449214	15279	23	G	A	A	42	42	SMC1A	A	2	2
SMC1A	8243	broad.mit.edu	36	X	53452861	53452861	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53452861G>A	uc004dsg.1	-	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W	SMC1A_uc004dsh.1_Missense_Mutation_p.R446W	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	468	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)	5														0.267442	49.486549	53.689143	23	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53452861	53452861	15279	23	G	A	A	38	38	SMC1A	A	1	1
SMC1A	8243	broad.mit.edu	36	X	53455919	53455919	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53455919G>A	uc004dsg.1	-	c.864C>T	c.(862-864)GAC>GAT	p.D288D	SMC1A_uc004dsh.1_Silent_p.D266D	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	288	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)	5														0.304348	72.055634	75.203985	28	64	GG		KEEP	---	---	---	---	capture			Silent	SNP	53455919	53455919	15279	23	G	A	A	36	36	SMC1A	A	2	2
HUWE1	10075	broad.mit.edu	36	X	53577773	53577773	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53577773G>A	uc004dso.1	-	c.12942C>T	c.(12940-12942)CTC>CTT	p.L4314L	HUWE1_uc004dsn.1_Silent_p.L3122L|HUWE1_uc004dsp.1_Silent_p.L4314L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4314	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.646341	320.078718	323.171235	106	58	GG		KEEP	---	---	---	---	capture			Silent	SNP	53577773	53577773	7761	23	G	A	A	37	37	HUWE1	A	1	1
HUWE1	10075	broad.mit.edu	36	X	53580346	53580346	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53580346C>A	uc004dso.1	-	c.12145G>T	c.(12145-12147)GTA>TTA	p.V4049L	HUWE1_uc004dsn.1_Missense_Mutation_p.V2857L|HUWE1_uc004dsp.1_Missense_Mutation_p.V4049L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4049	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.189655	20.392088	25.619292	11	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53580346	53580346	7761	23	C	A	A	20	20	HUWE1	A	3	3
HUWE1	10075	broad.mit.edu	36	X	53590228	53590228	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53590228G>A	uc004dso.1	-	c.10809C>T	c.(10807-10809)AAC>AAT	p.N3603N	HUWE1_uc004dsn.1_Silent_p.N2411N|HUWE1_uc004dsp.1_Silent_p.N3603N|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3603					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.306122	33.899786	35.547345	15	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	53590228	53590228	7761	23	G	A	A	40	40	HUWE1	A	1	1
HUWE1	10075	broad.mit.edu	36	X	53591899	53591899	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53591899C>A	uc004dso.1	-	c.10096G>T	c.(10096-10098)GAA>TAA	p.E3366*	HUWE1_uc004dsn.1_Nonsense_Mutation_p.E2174*|HUWE1_uc004dsp.1_Nonsense_Mutation_p.E3366*	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3366					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.169492	15.607296	21.717372	10	49	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	53591899	53591899	7761	23	C	A	A	30	30	HUWE1	A	5	3
HUWE1	10075	broad.mit.edu	36	X	53592728	53592728	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53592728C>T	uc004dso.1	-	c.9952G>A	c.(9952-9954)GGT>AGT	p.G3318S	HUWE1_uc004dsn.1_Missense_Mutation_p.G2126S|HUWE1_uc004dsp.1_Missense_Mutation_p.G3318S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3318					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.396825	70.656271	71.244484	25	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53592728	53592728	7761	23	C	T	T	23	23	HUWE1	T	1	1
HUWE1	10075	broad.mit.edu	36	X	53602679	53602679	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53602679C>A	uc004dso.1	-	c.7983G>T	c.(7981-7983)GAG>GAT	p.E2661D	HUWE1_uc004dsn.1_Missense_Mutation_p.E1485D|HUWE1_uc004dsp.1_Missense_Mutation_p.E2661D|MIR98_hsa-mir-98|MI0000100_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2661					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.318182	17.615746	18.263012	7	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53602679	53602679	7761	23	C	A	A	32	32	HUWE1	A	3	3
HUWE1	10075	broad.mit.edu	36	X	53619383	53619383	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53619383C>T	uc004dso.1	-	c.5975G>A	c.(5974-5976)CGG>CAG	p.R1992Q	HUWE1_uc004dsn.1_Missense_Mutation_p.R816Q|HUWE1_uc004dsp.1_Missense_Mutation_p.R1992Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1992					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.3	65.068268	67.927688	24	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53619383	53619383	7761	23	C	T	T	23	23	HUWE1	T	1	1
HUWE1	10075	broad.mit.edu	36	X	53624618	53624618	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53624618G>A	uc004dso.1	-	c.5614C>T	c.(5614-5616)CGT>TGT	p.R1872C	HUWE1_uc004dsn.1_Missense_Mutation_p.R697C|HUWE1_uc004dsp.1_Missense_Mutation_p.R1872C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1872					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.3125	50.179788	52.181261	20	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53624618	53624618	7761	23	G	A	A	37	37	HUWE1	A	1	1
HUWE1	10075	broad.mit.edu	36	X	53651376	53651376	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53651376C>T	uc004dso.1	-	c.2329G>A	c.(2329-2331)GTG>ATG	p.V777M	HUWE1_uc004dsp.1_Missense_Mutation_p.V777M	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	777					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.16	11.36322	16.874004	8	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53651376	53651376	7761	23	C	T	T	17	17	HUWE1	T	2	2
HUWE1	10075	broad.mit.edu	36	X	53671122	53671122	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53671122T>C	uc004dso.1	-	c.1453A>G	c.(1453-1455)ACA>GCA	p.T485A	HUWE1_uc004dsp.1_Missense_Mutation_p.T485A	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	485					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.29108	185.978291	194.298396	62	151	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53671122	53671122	7761	23	T	C	C	57	57	HUWE1	C	4	4
HUWE1	10075	broad.mit.edu	36	X	53674675	53674675	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53674675A>C	uc004dso.1	-	c.799T>G	c.(799-801)TTT>GTT	p.F267V	HUWE1_uc004dsp.1_Missense_Mutation_p.F267V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	267					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.570513	280.281465	280.955737	89	67	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53674675	53674675	7761	23	A	C	C	3	3	HUWE1	C	4	4
HUWE1	10075	broad.mit.edu	36	X	53689041	53689041	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53689041G>T	uc004dso.1	-	c.451C>A	c.(451-453)CTG>ATG	p.L151M	HUWE1_uc004dsp.1_Missense_Mutation_p.L151M	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	151					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.307692	64.553505	67.561133	28	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53689041	53689041	7761	23	G	T	T	33	33	HUWE1	T	3	3
HUWE1	10075	broad.mit.edu	36	X	53691188	53691188	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53691188C>A	uc004dso.1	-	c.199G>T	c.(199-201)GAT>TAT	p.D67Y	HUWE1_uc004dsp.1_Missense_Mutation_p.D67Y	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	67					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.244514	165.661195	184.659589	78	241	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53691188	53691188	7761	23	C	A	A	32	32	HUWE1	A	3	3
PHF8	23133	broad.mit.edu	36	X	54057670	54057670	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54057670G>A	uc004dsu.1	-	c.756C>T	c.(754-756)GTC>GTT	p.V252V	PHF8_uc004dst.1_Silent_p.V216V|PHF8_uc004dsv.2_Silent_p.V82V|PHF8_uc004dsw.1_Silent_p.V216V|PHF8_uc004dsx.2_5'UTR|PHF8_uc004dsy.2_Silent_p.V216V	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	252	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|oxidation-reduction process|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3														0.5375	126.623525	126.720855	43	37	GG		KEEP	---	---	---	---	capture			Silent	SNP	54057670	54057670	12263	23	G	A	A	37	37	PHF8	A	1	1
FAM120C	54954	broad.mit.edu	36	X	54178692	54178692	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54178692C>T	uc004dsz.2	-	c.1329G>A	c.(1327-1329)AAG>AAA	p.K443K		NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	443										ovary(1)|central_nervous_system(1)	2														0.588235	176.302641	176.993798	60	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	54178692	54178692	5615	23	C	T	T	28	28	FAM120C	T	2	2
FAM120C	54954	broad.mit.edu	36	X	54225830	54225830	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54225830C>T	uc004dsz.2	-	c.527G>A	c.(526-528)GGC>GAC	p.G176D	FAM120C_uc004dta.2_Missense_Mutation_p.G176D	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	176										ovary(1)|central_nervous_system(1)	2														0.65	38.878043	39.27429	13	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54225830	54225830	5615	23	C	T	T	26	26	FAM120C	T	2	2
WNK3	65267	broad.mit.edu	36	X	54293226	54293226	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54293226C>A	uc004dtc.1	-	c.2639G>T	c.(2638-2640)AGA>ATA	p.R880I	WNK3_uc004dtd.1_Missense_Mutation_p.R880I	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 1	880					intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.282051	25.20442	26.871842	11	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54293226	54293226	17953	23	C	A	A	32	32	WNK3	A	3	3
WNK3	65267	broad.mit.edu	36	X	54341359	54341359	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54341359T>C	uc004dtc.1	-	c.1372A>G	c.(1372-1374)ACA>GCA	p.T458A	WNK3_uc004dtd.1_Missense_Mutation_p.T458A	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 1	458					intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.548077	198.5933	198.803998	57	47	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54341359	54341359	17953	23	T	C	C	57	57	WNK3	C	4	4
WNK3	65267	broad.mit.edu	36	X	54354279	54354279	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54354279C>A	uc004dtc.1	-	c.708G>T	c.(706-708)AAG>AAT	p.K236N	WNK3_uc004dtd.1_Missense_Mutation_p.K236N	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 1	236	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.583333	100.525545	100.887664	35	25	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54354279	54354279	17953	23	C	A	A	32	32	WNK3	A	3	3
FGD1	2245	broad.mit.edu	36	X	54508660	54508660	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54508660C>T	uc004dtg.1	-	c.1585G>A	c.(1585-1587)GAC>AAC	p.D529N		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	529	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6														0.32	63.272847	65.43227	24	51	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54508660	54508660	6069	23	C	T	T	30	30	FGD1	T	2	2
GNL3L	54552	broad.mit.edu	36	X	54587425	54587425	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54587425C>T	uc004dth.1	+	c.571C>T	c.(571-573)CGG>TGG	p.R191W	GNL3L_uc004dti.2_Non-coding_Transcript	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	191					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1														0.285714	19.29209	20.443822	8	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54587425	54587425	6807	23	C	T	T	31	31	GNL3L	T	1	1
TRO	7216	broad.mit.edu	36	X	54973930	54973930	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54973930G>A	uc004dtq.1	+	c.4048G>A	c.(4048-4050)GAA>AAA	p.E1350K	TRO_uc004dtr.1_Intron|TRO_uc004dts.1_Intron|TRO_uc004dtt.1_Non-coding_Transcript|TRO_uc004dtu.1_Non-coding_Transcript|TRO_uc004dtv.1_Intron|TRO_uc004dtw.1_Missense_Mutation_p.E953K|TRO_uc004dtx.1_Missense_Mutation_p.E733K	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1350	62 X 10 AA approximate tandem repeats.|54; approximate.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1														0.205	79.386148	95.524056	41	159	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54973930	54973930	17125	23	G	A	A	37	37	TRO	A	1	1
TRO	7216	broad.mit.edu	36	X	54974015	54974015	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54974015G>A	uc004dtq.1	+	c.4133G>A	c.(4132-4134)TGC>TAC	p.C1378Y	TRO_uc004dtr.1_Intron|TRO_uc004dts.1_Intron|TRO_uc004dtt.1_Non-coding_Transcript|TRO_uc004dtu.1_Non-coding_Transcript|TRO_uc004dtv.1_Intron|TRO_uc004dtw.1_Missense_Mutation_p.C981Y|TRO_uc004dtx.1_Missense_Mutation_p.C761Y	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1378	57; approximate.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1														0.227027	82.548828	95.213517	42	143	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54974015	54974015	17125	23	G	A	A	46	46	TRO	A	2	2
PFKFB1	5207	broad.mit.edu	36	X	55004020	55004020	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:55004020G>T	uc004dty.1	-	c.279C>A	c.(277-279)TTC>TTA	p.F93L	PFKFB1_uc010nkd.1_Intron	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	93	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1														0.576159	247.22166	247.981804	87	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55004020	55004020	12182	23	G	T	T	33	33	PFKFB1	T	3	3
PFKFB1	5207	broad.mit.edu	36	X	55006421	55006421	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:55006421T>C	uc004dty.1	-	c.217A>G	c.(217-219)ACT>GCT	p.T73A	PFKFB1_uc010nkd.1_Missense_Mutation_p.T81A	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	73	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1														0.315545	432.993703	446.010873	136	295	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55006421	55006421	12182	23	T	C	C	60	60	PFKFB1	C	4	4
ALAS2	212	broad.mit.edu	36	X	55052482	55052482	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:55052482C>T	uc004dua.2	-	c.1620G>A	c.(1618-1620)TGG>TGA	p.W540*	ALAS2_uc004duc.2_Nonsense_Mutation_p.W468*|ALAS2_uc004dub.2_Nonsense_Mutation_p.W527*|ALAS2_uc004dud.2_Nonsense_Mutation_p.W503*	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	540					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)									0.5625	21.746361	21.797716	9	7	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55052482	55052482	488	23	C	T	T	30	30	ALAS2	T	5	2
USP51	158880	broad.mit.edu	36	X	55530611	55530611	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:55530611A>G	uc004dun.1	-	c.1487T>C	c.(1486-1488)GTC>GCC	p.V496A	USP51_uc010nke.1_Missense_Mutation_p.V496A	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	496					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1														0.244681	60.885552	66.465397	23	71	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55530611	55530611	17647	23	A	G	G	10	10	USP51	G	4	4
UBQLN2	29978	broad.mit.edu	36	X	56607386	56607386	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:56607386G>A	uc004dus.1	+	c.355G>A	c.(355-357)GCG>ACG	p.A119T		NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	119						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						Esophageal Squamous(104;218 1492 6022 10838 28884)								0.217391	50.409995	58.883655	25	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56607386	56607386	17455	23	G	A	A	38	38	UBQLN2	A	1	1
UBQLN2	29978	broad.mit.edu	36	X	56607681	56607681	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:56607681G>A	uc004dus.1	+	c.650G>A	c.(649-651)AGA>AAA	p.R217K		NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	217						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						Esophageal Squamous(104;218 1492 6022 10838 28884)								0.296703	65.082407	68.450426	27	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56607681	56607681	17455	23	G	A	A	33	33	UBQLN2	A	2	2
UBQLN2	29978	broad.mit.edu	36	X	56608893	56608893	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:56608893C>T	uc004dus.1	+	c.1862C>T	c.(1861-1863)TCC>TTC	p.S621F		NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	621	UBA.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						Esophageal Squamous(104;218 1492 6022 10838 28884)								0.342857	32.488379	33.252397	12	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56608893	56608893	17455	23	C	T	T	30	30	UBQLN2	T	2	2
SPIN3	169981	broad.mit.edu	36	X	57037992	57037992	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:57037992C>T	uc004dux.1	-	c.114G>A	c.(112-114)AGG>AGA	p.R38R	SPIN3_uc004duu.2_Non-coding_Transcript|SPIN3_uc004duv.2_Non-coding_Transcript|SPIN3_uc004duw.2_Non-coding_Transcript|SPIN3_uc010nkj.1_Silent_p.R38R	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	38					gamete generation					ovary(1)|central_nervous_system(1)	2														0.592593	638.958294	641.59321	208	143	CC		KEEP	---	---	---	---	capture			Silent	SNP	57037992	57037992	15567	23	C	T	T	30	30	SPIN3	T	2	2
ZXDA	7789	broad.mit.edu	36	X	57952232	57952232	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:57952232A>G	uc004dve.1	-	c.1348T>C	c.(1348-1350)TTC>CTC	p.F450L		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	450	C2H2-type 7.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.371951	195.637747	197.998138	61	103	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57952232	57952232	18855	23	A	G	G	1	1	ZXDA	G	4	4
ZXDA	7789	broad.mit.edu	36	X	57953286	57953286	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:57953286G>A	uc004dve.1	-	c.294C>T	c.(292-294)GGC>GGT	p.G98G		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	98					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.222222	11.239935	13.154711	6	21	GG		KEEP	---	---	---	---	capture			Silent	SNP	57953286	57953286	18855	23	G	A	A	38	38	ZXDA	A	1	1
NLGN4X	57502	broad.mit.edu	36	X	5957453	5957453	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:5957453T>C	uc010ndi.1	-	c.493A>G	c.(493-495)AAG>GAG	p.K165E	NLGN4X_uc004crp.1_Missense_Mutation_p.K185E|NLGN4X_uc010ndh.1_Missense_Mutation_p.K165E|NLGN4X_uc004crq.1_Missense_Mutation_p.K165E|NLGN4X_uc004crr.1_Missense_Mutation_p.K165E|NLGN4X_uc010ndj.1_Missense_Mutation_p.K165E	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4	165	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.30303	91.011435	94.441411	30	69	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5957453	5957453	10867	23	T	C	C	61	61	NLGN4X	C	4	4
FAM123B	139285	broad.mit.edu	36	X	63328826	63328826	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:63328826T>C	uc004dvo.1	-	c.1066A>G	c.(1066-1068)ACC>GCC	p.T356A	FAM123B_uc010nkm.1_Missense_Mutation_p.T356A	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	356					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.241007	178.065589	195.111621	67	211	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63328826	63328826	5620	23	T	C	C	58	58	FAM123B	C	4	4
MTMR8	55613	broad.mit.edu	36	X	63473927	63473927	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:63473927G>T	uc004dvs.1	-	c.1047C>A	c.(1045-1047)TGC>TGA	p.C349*	MTMR8_uc004dvt.1_Nonsense_Mutation_p.C349*	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	349	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4														0.534247	116.32788	116.402502	39	34	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	63473927	63473927	10342	23	G	T	T	34	34	MTMR8	T	5	3
ZC4H2	55906	broad.mit.edu	36	X	64054459	64054459	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:64054459T>A	uc004dvu.1	-	c.604A>T	c.(604-606)ATA>TTA	p.I202L	ZC4H2_uc010nkn.1_Missense_Mutation_p.I197L|ZC4H2_uc004dvv.1_Missense_Mutation_p.I179L|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	202	C4H2-type.						metal ion binding|protein binding			ovary(1)	1														0.740741	128.422968	131.261326	40	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64054459	64054459	18166	23	T	A	A	49	49	ZC4H2	A	4	4
ZC3H12B	340554	broad.mit.edu	36	X	64635699	64635699	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:64635699C>T	uc010nko.1	+	c.811C>T	c.(811-813)CGG>TGG	p.R271W		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	271							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3														0.228477	158.944087	179.352201	69	233	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64635699	64635699	18150	23	C	T	T	23	23	ZC3H12B	T	1	1
LAS1L	81887	broad.mit.edu	36	X	64664872	64664872	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:64664872C>T	uc004dwa.1	-	c.949G>A	c.(949-951)GAG>AAG	p.E317K	LAS1L_uc004dwc.1_Missense_Mutation_p.E317K|LAS1L_uc004dwd.1_Missense_Mutation_p.E275K	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	317						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4												OREG0019826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.269231	16.912893	18.162897	7	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64664872	64664872	8959	23	C	T	T	31	31	LAS1L	T	1	1
HEPH	9843	broad.mit.edu	36	X	65334350	65334350	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:65334350T>C	uc004dwn.1	+	c.1611T>C	c.(1609-1611)TGT>TGC	p.C537C	HEPH_uc004dwm.1_Silent_p.C534C|HEPH_uc004dwo.1_Silent_p.C267C|HEPH_uc010nkr.1_Intron|HEPH_uc004dwp.1_Silent_p.C534C	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	534	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.287129	83.637189	87.740303	29	72	TT		KEEP	---	---	---	---	capture			Silent	SNP	65334350	65334350	7337	23	T	C	C	58	58	HEPH	C	4	4
HEPH	9843	broad.mit.edu	36	X	65335581	65335581	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:65335581C>T	uc004dwn.1	+	c.1859C>T	c.(1858-1860)TCC>TTC	p.S620F	HEPH_uc004dwm.1_Missense_Mutation_p.S617F|HEPH_uc004dwo.1_Missense_Mutation_p.S350F|HEPH_uc010nkr.1_Intron|HEPH_uc004dwp.1_Missense_Mutation_p.S617F	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	617	Plastocyanin-like 4.|Extracellular (Potential).				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.279221	109.069249	115.814255	43	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65335581	65335581	7337	23	C	T	T	30	30	HEPH	T	2	2
HEPH	9843	broad.mit.edu	36	X	65337227	65337227	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:65337227G>A	uc004dwn.1	+	c.1994G>A	c.(1993-1995)GGC>GAC	p.G665D	HEPH_uc004dwm.1_Missense_Mutation_p.G662D|HEPH_uc004dwo.1_Missense_Mutation_p.G395D|HEPH_uc010nkr.1_Intron|HEPH_uc004dwp.1_Missense_Mutation_p.G662D|HEPH_uc010nks.1_5'Flank	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	662	Plastocyanin-like 4.|Extracellular (Potential).				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.675676	155.467768	157.492336	50	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65337227	65337227	7337	23	G	A	A	42	42	HEPH	A	2	2
HEPH	9843	broad.mit.edu	36	X	65344809	65344809	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:65344809G>A	uc004dwn.1	+	c.2568G>A	c.(2566-2568)GAG>GAA	p.E856E	HEPH_uc004dwm.1_Silent_p.E853E|HEPH_uc004dwo.1_Silent_p.E586E|HEPH_uc010nkr.1_Silent_p.E664E|HEPH_uc004dwp.1_Silent_p.E853E|HEPH_uc010nks.1_Silent_p.E145E	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	853	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.493333	101.478875	101.481495	37	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	65344809	65344809	7337	23	G	A	A	34	34	HEPH	A	2	2
AR	367	broad.mit.edu	36	X	66681896	66681896	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:66681896G>A	uc004dwu.1	+	c.183G>A	c.(181-183)CAG>CAA	p.Q61Q		NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	61	Modulating.|Poly-Gln.|Gln-rich.				cell death|cell growth|cell proliferation|cell-cell signaling|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|promoter binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)					177				0.5	13.373133	13.373133	5	5	GG		KEEP	---	---	---	---	capture			Silent	SNP	66681896	66681896	847	23	G	A	A	34	34	AR	A	2	2
AR	367	broad.mit.edu	36	X	66848153	66848153	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:66848153C>T	uc004dwu.1	+	c.2070C>T	c.(2068-2070)CAC>CAT	p.H690H	AR_uc004dwv.1_Silent_p.H158H	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	689	Interaction with MYST2.				cell death|cell growth|cell proliferation|cell-cell signaling|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|promoter binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)					177				0.578125	106.37711	106.717489	37	27	CC		KEEP	---	---	---	---	capture			Silent	SNP	66848153	66848153	847	23	C	T	T	19	19	AR	T	1	1
STARD8	9754	broad.mit.edu	36	X	67854557	67854557	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:67854557C>T	uc004dxb.1	+	c.1076C>T	c.(1075-1077)CCT>CTT	p.P359L	STARD8_uc004dxa.1_Missense_Mutation_p.P279L|STARD8_uc004dxc.2_Missense_Mutation_p.P279L	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	279					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.243902	25.327987	27.780037	10	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67854557	67854557	15782	23	C	T	T	24	24	STARD8	T	2	2
STARD8	9754	broad.mit.edu	36	X	67855159	67855159	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:67855159G>A	uc004dxb.1	+	c.1678G>A	c.(1678-1680)GAT>AAT	p.D560N	STARD8_uc004dxa.1_Missense_Mutation_p.D480N|STARD8_uc004dxc.2_Missense_Mutation_p.D480N	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	480					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.287879	45.396176	48.060796	19	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67855159	67855159	15782	23	G	A	A	37	37	STARD8	A	1	1
STARD8	9754	broad.mit.edu	36	X	67856962	67856962	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:67856962G>A	uc004dxb.1	+	c.2021G>A	c.(2020-2022)CGC>CAC	p.R674H	STARD8_uc004dxa.1_Missense_Mutation_p.R594H|STARD8_uc004dxc.2_Missense_Mutation_p.R594H	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	594	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.444444	31.620887	31.688413	12	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67856962	67856962	15782	23	G	A	A	38	38	STARD8	A	1	1
STARD8	9754	broad.mit.edu	36	X	67857595	67857595	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:67857595C>T	uc004dxb.1	+	c.2154C>T	c.(2152-2154)TAC>TAT	p.Y718Y	STARD8_uc004dxa.1_Silent_p.Y638Y|STARD8_uc004dxc.2_Silent_p.Y638Y	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	638	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.297872	99.486204	104.642134	42	99	CC		KEEP	---	---	---	---	capture			Silent	SNP	67857595	67857595	15782	23	C	T	T	19	19	STARD8	T	1	1
EFNB1	1947	broad.mit.edu	36	X	67975352	67975352	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:67975352T>C	uc004dxe.2	+	c.296T>C	c.(295-297)GTC>GCC	p.V99A	EFNB1_uc004dxd.2_Missense_Mutation_p.V99A	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	99	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0														0.155556	14.000575	19.095766	7	38	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67975352	67975352	5143	23	T	C	C	58	58	EFNB1	C	4	4
EFNB1	1947	broad.mit.edu	36	X	67977200	67977200	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:67977200C>T	uc004dxe.2	+	c.1019C>T	c.(1018-1020)GCG>GTG	p.A340V	EFNB1_uc004dxd.2_Missense_Mutation_p.A340V	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	340	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0														0.259259	15.913116	17.330328	7	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67977200	67977200	5143	23	C	T	T	27	27	EFNB1	T	1	1
PJA1	64219	broad.mit.edu	36	X	68298953	68298953	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:68298953T>C	uc004dxh.1	-	c.854A>G	c.(853-855)CAC>CGC	p.H285R	PJA1_uc004dxg.1_Intron|PJA1_uc004dxi.1_Missense_Mutation_p.H230R|PJA1_uc004dxf.2_Missense_Mutation_p.H285R	NM_145119	NP_001027568	Q8NG27	PJA1_HUMAN	praja 1 isoform a	285							zinc ion binding				0														0.263804	106.100409	114.371962	43	120	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68298953	68298953	12385	23	T	C	C	59	59	PJA1	C	4	4
OTUD6A	139562	broad.mit.edu	36	X	69199404	69199404	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69199404A>C	uc004dxu.1	+	c.305A>C	c.(304-306)GAG>GCG	p.E102A		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	102											0														0.388889	19.119768	19.314765	7	11	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69199404	69199404	11729	23	A	C	C	11	11	OTUD6A	C	4	4
OTUD6A	139562	broad.mit.edu	36	X	69199607	69199607	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69199607C>T	uc004dxu.1	+	c.508C>T	c.(508-510)CTG>TTG	p.L170L		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	170	OTU.										0														0.325581	33.429003	34.592946	14	29	CC		KEEP	---	---	---	---	capture			Silent	SNP	69199607	69199607	11729	23	C	T	T	28	28	OTUD6A	T	2	2
IGBP1	3476	broad.mit.edu	36	X	69271119	69271119	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69271119G>A	uc004dxv.1	+	c.210G>A	c.(208-210)GAG>GAA	p.E70E	IGBP1_uc004dxw.1_Silent_p.E70E	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	70					B cell activation|negative regulation of caspase activity|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						NSCLC(167;1189 1558 6576 8216 30387 37980 41450)								0.603448	113.434099	113.976458	35	23	GG		KEEP	---	---	---	---	capture			Silent	SNP	69271119	69271119	7868	23	G	A	A	33	33	IGBP1	A	2	2
IGBP1	3476	broad.mit.edu	36	X	69285400	69285400	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69285400A>C	uc004dxv.1	+	c.743A>C	c.(742-744)AAC>ACC	p.N248T	IGBP1_uc004dxw.1_Missense_Mutation_p.N248T	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	248					B cell activation|negative regulation of caspase activity|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						NSCLC(167;1189 1558 6576 8216 30387 37980 41450)								0.266667	46.777647	49.725028	16	44	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69285400	69285400	7868	23	A	C	C	2	2	IGBP1	C	4	4
DGAT2L6	347516	broad.mit.edu	36	X	69314173	69314173	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69314173C>T	uc004dxx.1	+	c.16C>T	c.(16-18)CGA>TGA	p.R6*		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	6					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)	1														0.267943	145.42067	155.576159	56	153	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	69314173	69314173	4638	23	C	T	T	23	23	DGAT2L6	T	5	1
DGAT2L6	347516	broad.mit.edu	36	X	69336438	69336438	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69336438G>A	uc004dxx.1	+	c.248G>A	c.(247-249)CGA>CAA	p.R83Q		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	83					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)	1														0.268293	51.616507	55.589492	22	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69336438	69336438	4638	23	G	A	A	37	37	DGAT2L6	A	1	1
AWAT1	158833	broad.mit.edu	36	X	69372358	69372358	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69372358C>T	uc004dxy.1	+	c.144C>T	c.(142-144)TAC>TAT	p.Y48Y		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	48	Helical; (Potential).				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			ovary(3)	3														0.607774	547.494225	550.35981	172	111	CC		KEEP	---	---	---	---	capture			Silent	SNP	69372358	69372358	1255	23	C	T	T	20	20	AWAT1	T	2	2
P2RY4	5030	broad.mit.edu	36	X	69395802	69395802	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69395802C>T	uc004dxz.1	-	c.398G>A	c.(397-399)CGC>CAC	p.R133H		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	133	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0														0.25	38.812407	42.906459	18	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69395802	69395802	11766	23	C	T	T	27	27	P2RY4	T	1	1
P2RY4	5030	broad.mit.edu	36	X	69395870	69395870	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69395870G>A	uc004dxz.1	-	c.330C>T	c.(328-330)TTC>TTT	p.F110F		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	110	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0														0.188406	24.933511	31.205401	13	56	GG		KEEP	---	---	---	---	capture			Silent	SNP	69395870	69395870	11766	23	G	A	A	37	37	P2RY4	A	1	1
ARR3	407	broad.mit.edu	36	X	69406713	69406713	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69406713C>T	uc004dyb.2	+	c.139C>T	c.(139-141)CGA>TGA	p.R47*	ARR3_uc004dya.2_Nonsense_Mutation_p.R47*	NM_004312	NP_004303	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	47					signal transduction|visual perception	cytoplasm|soluble fraction				large_intestine(2)|ovary(2)	4														0.186441	63.369391	79.678281	33	144	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	69406713	69406713	997	23	C	T	T	31	31	ARR3	T	5	1
KIF4A	24137	broad.mit.edu	36	X	69438612	69438612	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69438612C>A	uc004dyg.1	+	c.654C>A	c.(652-654)ATC>ATA	p.I218I	KIF4A_uc004dyf.1_Silent_p.I218I|KIF4A_uc010nkw.1_Silent_p.I218I	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	218	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4														0.313433	102.690511	106.847952	42	92	CC		KEEP	---	---	---	---	capture			Silent	SNP	69438612	69438612	8614	23	C	A	A	32	32	KIF4A	A	3	3
KIF4A	24137	broad.mit.edu	36	X	69542866	69542866	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69542866G>A	uc004dyg.1	+	c.3009G>A	c.(3007-3009)CAG>CAA	p.Q1003Q	KIF4A_uc010nkw.1_Silent_p.Q1003Q	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1003	Globular.|Interaction with PRC1.			QKHLPKDTLLSP -> RTLPRIPFYLQ (in Ref. 8; AAF86334).	anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4														0.226667	81.766356	92.058901	34	116	GG		KEEP	---	---	---	---	capture			Silent	SNP	69542866	69542866	8614	23	G	A	A	33	33	KIF4A	A	2	2
KIF4A	24137	broad.mit.edu	36	X	69543518	69543518	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69543518C>T	uc004dyg.1	+	c.3123C>T	c.(3121-3123)ATC>ATT	p.I1041I	KIF4A_uc010nkw.1_Silent_p.I1041I	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1041	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4														0.298701	58.4958	61.284138	23	54	CC		KEEP	---	---	---	---	capture			Silent	SNP	69543518	69543518	8614	23	C	T	T	31	31	KIF4A	T	1	1
GDPD2	54857	broad.mit.edu	36	X	69566547	69566547	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69566547C>T	uc004dyh.1	+	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	GDPD2_uc010nky.1_Silent_p.C258C	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	406	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)													0.356589	116.017599	118.352662	46	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69566547	69566547	6592	23	C	T	T	27	27	GDPD2	T	1	1
SLC7A3	84889	broad.mit.edu	36	X	70062501	70062501	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70062501C>T	uc004dyn.1	-	c.1747G>A	c.(1747-1749)GGC>AGC	p.G583S	SLC7A3_uc004dyo.1_Missense_Mutation_p.G583S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	583	Helical; Name=14; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.21978	91.007983	104.167493	40	142	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70062501	70062501	15195	23	C	T	T	23	23	SLC7A3	T	1	1
SLC7A3	84889	broad.mit.edu	36	X	70064403	70064403	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70064403G>T	uc004dyn.1	-	c.1013C>A	c.(1012-1014)GCT>GAT	p.A338D	SLC7A3_uc004dyo.1_Missense_Mutation_p.A338D	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	338	Helical; Name=8; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.25	6.718643	7.400941	3	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70064403	70064403	15195	23	G	T	T	34	34	SLC7A3	T	3	3
FOXO4	4303	broad.mit.edu	36	X	70238224	70238224	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70238224T>C	uc004dys.1	+	c.1419T>C	c.(1417-1419)GAT>GAC	p.D473D	FOXO4_uc010nkz.1_Intron|FOXO4_uc004dyt.1_Silent_p.D418D	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	473					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 gene-specific transcription from RNA polymerase II promoter|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)	2	Renal(35;0.156)									35				0.337748	160.095233	163.602667	51	100	TT		KEEP	---	---	---	---	capture			Silent	SNP	70238224	70238224	6271	23	T	C	C	49	49	FOXO4	C	4	4
MED12	9968	broad.mit.edu	36	X	70258886	70258886	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70258886C>T	uc004dyy.1	+	c.1213C>T	c.(1213-1215)CCC>TCC	p.P405S	MED12_uc004dyz.1_Missense_Mutation_p.P405S|MED12_uc004dza.1_Missense_Mutation_p.P252S	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	405					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)													0.274112	126.161653	135.226006	54	143	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70258886	70258886	9817	23	C	T	T	26	26	MED12	T	2	2
MED12	9968	broad.mit.edu	36	X	70264555	70264555	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70264555C>T	uc004dyy.1	+	c.3069C>T	c.(3067-3069)ATC>ATT	p.I1023I	MED12_uc004dyz.1_Silent_p.I1023I|MED12_uc004dza.1_Silent_p.I870I|MED12_uc010nla.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1023					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)													0.593985	236.437294	237.462522	79	54	CC		KEEP	---	---	---	---	capture			Silent	SNP	70264555	70264555	9817	23	C	T	T	31	31	MED12	T	1	1
NLGN3	54413	broad.mit.edu	36	X	70306478	70306478	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70306478C>T	uc004dzb.1	+	c.2293C>T	c.(2293-2295)CGC>TGC	p.R765C	NLGN3_uc004dzc.1_Missense_Mutation_p.R648C|NLGN3_uc004dze.1_Missense_Mutation_p.R583C	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	785	Cytoplasmic (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|regulation of synaptic transmission|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	carboxylesterase activity|protein binding|receptor activity			ovary(1)	1	Renal(35;0.156)					Esophageal Squamous(103;760 1488 16849 22250 40351)								0.391304	23.768427	24.006807	9	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70306478	70306478	10866	23	C	T	T	27	27	NLGN3	T	1	1
GJB1	2705	broad.mit.edu	36	X	70360738	70360738	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70360738C>A	uc004dzf.2	+	c.456C>A	c.(454-456)GTC>GTA	p.V152V	GJB1_uc004dzg.2_Silent_p.V152V|GJB1_uc010nlc.1_Silent_p.V152V	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	152	Helical; (Probable).				cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)	1	Renal(35;0.156)													0.578947	58.430309	58.633422	22	16	CC		KEEP	---	---	---	---	capture			Silent	SNP	70360738	70360738	6675	23	C	A	A	32	32	GJB1	A	3	3
ZMYM3	9203	broad.mit.edu	36	X	70382025	70382025	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70382025C>A	uc004dzh.1	-	c.2896G>T	c.(2896-2898)GAA>TAA	p.E966*	ZMYM3_uc004dzi.1_Nonsense_Mutation_p.E966*|ZMYM3_uc004dzj.1_Nonsense_Mutation_p.E954*	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	966					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)													0.22	23.12968	26.717993	11	39	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	70382025	70382025	18292	23	C	A	A	30	30	ZMYM3	A	5	3
TAF1	6872	broad.mit.edu	36	X	70504714	70504714	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70504714G>A	uc004dzt.2	+	c.381G>A	c.(379-381)ACG>ACA	p.T127T	TAF1_uc004dzu.2_Silent_p.T127T	NM_004606	NP_004597	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 1	127	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|response to DNA damage stimulus|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	15	Renal(35;0.156)	all_lung(315;0.000321)								472				0.2875	111.994411	118.469116	46	114	GG		KEEP	---	---	---	---	capture			Silent	SNP	70504714	70504714	16034	23	G	A	A	37	37	TAF1	A	1	1
TAF1	6872	broad.mit.edu	36	X	70529930	70529930	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70529930G>T	uc004dzt.2	+	c.3166G>T	c.(3166-3168)GAA>TAA	p.E1056*	TAF1_uc004dzu.2_Nonsense_Mutation_p.E1035*|TAF1_uc004dzv.2_Nonsense_Mutation_p.E209*	NM_004606	NP_004597	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 1	1035					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|response to DNA damage stimulus|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	15	Renal(35;0.156)	all_lung(315;0.000321)								472				0.270936	123.997959	133.635237	55	148	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	70529930	70529930	16034	23	G	T	T	33	33	TAF1	T	5	3
TAF1	6872	broad.mit.edu	36	X	70530809	70530809	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70530809G>A	uc004dzt.2	+	c.3455G>A	c.(3454-3456)CGA>CAA	p.R1152Q	TAF1_uc004dzu.2_Missense_Mutation_p.R1131Q|TAF1_uc004dzv.2_Missense_Mutation_p.R305Q	NM_004606	NP_004597	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 1	1131					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|response to DNA damage stimulus|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	15	Renal(35;0.156)	all_lung(315;0.000321)								472				0.296	93.824616	98.478637	37	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70530809	70530809	16034	23	G	A	A	37	37	TAF1	A	1	1
TAF1	6872	broad.mit.edu	36	X	70557930	70557930	+	Silent	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70557930C>A	uc004dzt.2	+	c.4491C>A	c.(4489-4491)CTC>CTA	p.L1497L	TAF1_uc004dzu.2_Silent_p.L1476L|TAF1_uc010nle.1_De_novo_Start_OutOfFrame|TAF1_uc010nlf.1_De_novo_Start_OutOfFrame|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_5'Flank|TAF1_uc004dzv.2_Silent_p.L650L|TAF1_uc010nld.1_Non-coding_Transcript	NM_004606	NP_004597	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 1	1476	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|response to DNA damage stimulus|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	15	Renal(35;0.156)	all_lung(315;0.000321)								472				0.563636	178.34791	178.733821	62	48	CC		KEEP	---	---	---	---	capture			Silent	SNP	70557930	70557930	16034	23	C	A	A	32	32	TAF1	A	3	3
ACRC	93953	broad.mit.edu	36	X	70740828	70740828	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70740828G>A	uc004eae.1	+	c.976G>A	c.(976-978)GAT>AAT	p.D326N		NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	326	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)													0.272727	189.121982	202.967902	81	216	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70740828	70740828	172	23	G	A	A	37	37	ACRC	A	1	1
ACRC	93953	broad.mit.edu	36	X	70742244	70742244	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70742244A>G	uc004eae.1	+	c.1406A>G	c.(1405-1407)AAG>AGG	p.K469R		NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	469	Arg/Lys/Pro-rich.					nucleus				ovary(3)	3	Renal(35;0.156)													0.229167	32.400568	35.6283	11	37	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70742244	70742244	172	23	A	G	G	3	3	ACRC	G	4	4
ACRC	93953	broad.mit.edu	36	X	70749018	70749018	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70749018G>A	uc004eae.1	+	c.1839G>A	c.(1837-1839)TGG>TGA	p.W613*		NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	613						nucleus				ovary(3)	3	Renal(35;0.156)													0.295455	33.858686	35.505052	13	31	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	70749018	70749018	172	23	G	A	A	41	41	ACRC	A	5	2
CXCR3	2833	broad.mit.edu	36	X	70753915	70753915	+	Silent	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70753915T>C	uc004eaf.1	-	c.132A>G	c.(130-132)CCA>CCG	p.P44P		NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	44	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)													0.313725	45.502062	47.065838	16	35	TT		KEEP	---	---	---	---	capture			Silent	SNP	70753915	70753915	4252	23	T	C	C	59	59	CXCR3	C	4	4
RGAG4	340526	broad.mit.edu	36	X	71267149	71267149	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71267149G>A	uc010nlh.1	-	c.967C>T	c.(967-969)CGA>TGA	p.R323*	RGAG4_uc004eaj.1_Non-coding_Transcript	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	323										ovary(2)|skin(1)	3	Renal(35;0.156)													0.284698	193.480807	205.177068	80	201	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	71267149	71267149	13748	23	G	A	A	37	37	RGAG4	A	5	1
RGAG4	340526	broad.mit.edu	36	X	71267392	71267392	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71267392G>A	uc010nlh.1	-	c.724C>T	c.(724-726)CGC>TGC	p.R242C	RGAG4_uc004eaj.1_Non-coding_Transcript|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	242										ovary(2)|skin(1)	3	Renal(35;0.156)													0.284722	98.415758	104.407165	41	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71267392	71267392	13748	23	G	A	A	37	37	RGAG4	A	1	1
ERCC6L	54821	broad.mit.edu	36	X	71342676	71342676	+	Missense_Mutation	SNP	A	C	C			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71342676A>C	uc004eaq.1	-	c.2666T>G	c.(2665-2667)ATT>AGT	p.I889S	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.I766S	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	889				I -> V (in Ref. 3; BAC11160).	cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)													0.25	76.207505	82.110146	26	78	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71342676	71342676	5411	23	A	C	C	4	4	ERCC6L	C	4	4
ERCC6L	54821	broad.mit.edu	36	X	71343329	71343329	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71343329G>T	uc004eaq.1	-	c.2013C>A	c.(2011-2013)ATC>ATA	p.I671I	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.I548I	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	671					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)													0.304569	144.807759	151.531684	60	137	GG		KEEP	---	---	---	---	capture			Silent	SNP	71343329	71343329	5411	23	G	T	T	33	33	ERCC6L	T	3	3
ERCC6L	54821	broad.mit.edu	36	X	71343753	71343753	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71343753G>A	uc004eaq.1	-	c.1589C>T	c.(1588-1590)TCT>TTT	p.S530F	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.S407F	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	530	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)													0.311111	149.723972	155.449127	56	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71343753	71343753	5411	23	G	A	A	33	33	ERCC6L	A	2	2
ERCC6L	54821	broad.mit.edu	36	X	71344311	71344311	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71344311C>A	uc004eaq.1	-	c.1031G>T	c.(1030-1032)AGA>ATA	p.R344I	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.R221I	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	344					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)													0.312329	277.076511	288.545063	114	251	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71344311	71344311	5411	23	C	A	A	32	32	ERCC6L	A	3	3
CITED1	4435	broad.mit.edu	36	X	71438634	71438634	+	Silent	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71438634G>T	uc004eas.1	-	c.246C>A	c.(244-246)TCC>TCA	p.S82S	CITED1_uc004eat.1_Silent_p.S82S	NM_004143	NP_004134	Q99966	CITE1_HUMAN	melanocyte-specific gene 1 isoform 1	82					branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	co-SMAD binding|LBD domain binding|promoter binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription repressor activity				0	Renal(35;0.156)													0.25	13.256173	14.608279	6	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	71438634	71438634	3574	23	G	T	T	35	35	CITED1	T	3	3
HDAC8	55869	broad.mit.edu	36	X	71709322	71709322	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71709322C>A	uc004eau.1	-	c.15G>T	c.(13-15)GAG>GAT	p.E5D	HDAC8_uc010nlk.1_De_novo_Start_InFrame|HDAC8_uc004eav.2_Missense_Mutation_p.E5D|HDAC8_uc004eaw.2_Non-coding_Transcript	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	5					chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding				0	Renal(35;0.156)				Vorinostat(DB02546)					97				0.25731	94.207693	103.348987	44	127	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71709322	71709322	7296	23	C	A	A	24	24	HDAC8	A	3	3
PHKA1	5255	broad.mit.edu	36	X	71789119	71789119	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71789119C>A	uc004eax.2	-	c.1245G>T	c.(1243-1245)GAG>GAT	p.E415D	PHKA1_uc004eay.2_Missense_Mutation_p.E415D	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	415					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)	3	Renal(35;0.156)													0.203704	22.092446	26.495777	11	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71789119	71789119	12267	23	C	A	A	24	24	PHKA1	A	3	3
STS	412	broad.mit.edu	36	X	7204010	7204010	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:7204010C>A	uc004cry.2	+	c.840C>A	c.(838-840)TTC>TTA	p.F280L		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	280	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)									0.464286	34.868813	34.900214	13	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7204010	7204010	15852	23	C	A	A	30	30	STS	A	3	3
CDX4	1046	broad.mit.edu	36	X	72583879	72583879	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:72583879G>A	uc004ebj.1	+	c.65G>A	c.(64-66)GGG>GAG	p.G22E		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Renal(35;0.156)													0.244681	55.979087	61.561786	23	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72583879	72583879	3313	23	G	A	A	43	43	CDX4	A	2	2
STS	412	broad.mit.edu	36	X	7262084	7262084	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:7262084T>G	uc004cry.2	+	c.1314T>G	c.(1312-1314)GAT>GAG	p.D438E		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	438	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)									0.601307	328.534604	329.910707	92	61	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7262084	7262084	15852	23	T	G	G	50	50	STS	G	4	4
CHIC1	53344	broad.mit.edu	36	X	72713969	72713969	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:72713969T>C	uc004ebk.2	+	c.298T>C	c.(298-300)TTT>CTT	p.F100L	CHIC1_uc010nlo.1_Non-coding_Transcript|CHIC1_uc004ebl.2_Missense_Mutation_p.F100L	NM_001039840	NP_001034929	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	100						cytoplasmic membrane-bounded vesicle|plasma membrane					0	Renal(35;0.156)													0.268116	220.646522	234.030179	74	202	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72713969	72713969	3477	23	T	C	C	60	60	CHIC1	C	4	4
SLC16A2	6567	broad.mit.edu	36	X	73667981	73667981	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:73667981C>T	uc004ebt.2	+	c.1710C>T	c.(1708-1710)TTC>TTT	p.F570F	SLC16A2_uc010nlr.1_3'UTR	NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	496	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)									0.581699	262.79372	263.687386	89	64	CC		KEEP	---	---	---	---	capture			Silent	SNP	73667981	73667981	14904	23	C	T	T	31	31	SLC16A2	T	1	1
SLC16A2	6567	broad.mit.edu	36	X	73668056	73668056	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:73668056C>T	uc004ebt.2	+	c.1785C>T	c.(1783-1785)GAC>GAT	p.D595D	SLC16A2_uc010nlr.1_3'UTR	NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	521	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)									0.533679	296.83376	297.025371	103	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	73668056	73668056	14904	23	C	T	T	18	18	SLC16A2	T	2	2
KIAA2022	340533	broad.mit.edu	36	X	73879597	73879597	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:73879597C>T	uc004eby.1	-	c.1520G>A	c.(1519-1521)AGG>AAG	p.R507K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	507					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.219178	38.657989	43.963323	16	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73879597	73879597	8580	23	C	T	T	24	24	KIAA2022	T	2	2
CXorf26	51260	broad.mit.edu	36	X	75314054	75314054	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:75314054G>T	uc004ecl.1	+	c.610G>T	c.(610-612)GGA>TGA	p.G204*		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	hypothetical protein LOC51260	204											0														0.358974	35.935348	36.619898	14	25	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	75314054	75314054	4264	23	G	T	T	35	35	CXorf26	T	5	3
MAGEE1	57692	broad.mit.edu	36	X	75565311	75565311	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:75565311G>A	uc004ecm.1	+	c.584G>A	c.(583-585)GGA>GAA	p.G195E		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	195	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6														0.575758	112.753787	113.083596	38	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75565311	75565311	9568	23	G	A	A	41	41	MAGEE1	A	2	2
MAGEE1	57692	broad.mit.edu	36	X	75567031	75567031	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:75567031G>T	uc004ecm.1	+	c.2304G>T	c.(2302-2304)AAG>AAT	p.K768N		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	768	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6														0.25463	120.101681	131.919988	55	161	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75567031	75567031	9568	23	G	T	T	33	33	MAGEE1	T	3	3
CYSLTR1	10800	broad.mit.edu	36	X	77415033	77415033	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:77415033G>T	uc004edb.1	-	c.867C>A	c.(865-867)TGC>TGA	p.C289*	CYSLTR1_uc010nma.1_Nonsense_Mutation_p.C289*|CYSLTR1_uc010nmb.1_Nonsense_Mutation_p.C289*|CYSLTR1_uc010nmc.1_Nonsense_Mutation_p.C289*	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	289	Helical; Name=7; (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)									0.237762	74.86883	83.861696	34	109	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	77415033	77415033	4366	23	G	T	T	34	34	CYSLTR1	T	5	3
ZCCHC5	203430	broad.mit.edu	36	X	77799335	77799335	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:77799335C>A	uc004edc.1	-	c.1239G>T	c.(1237-1239)GAG>GAT	p.E413D	ZCCHC5_uc010nmd.1_Missense_Mutation_p.E413D	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	413							nucleic acid binding|zinc ion binding			ovary(1)	1														0.24878	108.006748	119.790601	51	154	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77799335	77799335	18179	23	C	A	A	32	32	ZCCHC5	A	3	3
ZCCHC5	203430	broad.mit.edu	36	X	77800212	77800212	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:77800212C>T	uc004edc.1	-	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	ZCCHC5_uc010nmd.1_Missense_Mutation_p.R121Q	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	121	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(1)	1														0.289157	59.069275	62.375442	24	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77800212	77800212	18179	23	C	T	T	23	23	ZCCHC5	T	1	1
LPAR4	2846	broad.mit.edu	36	X	77897281	77897281	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:77897281C>T	uc010nme.1	+	c.259C>T	c.(259-261)CTT>TTT	p.L87F	LPAR4_uc004edd.1_Missense_Mutation_p.L87F	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	87	Helical; Name=2; (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3														0.609319	534.685779	537.600798	170	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77897281	77897281	9280	23	C	T	T	28	28	LPAR4	T	2	2
TBX22	50945	broad.mit.edu	36	X	79169416	79169416	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:79169416G>A	uc010nmg.1	+	c.804G>A	c.(802-804)ACG>ACA	p.T268T	TBX22_uc004edi.1_Silent_p.T148T|TBX22_uc004edj.1_Silent_p.T268T	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	268	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			large_intestine(3)|central_nervous_system(2)|lung(1)|ovary(1)	7										298				0.490196	71.870874	71.875168	25	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	79169416	79169416	16184	23	G	A	A	37	37	TBX22	A	1	1
BRWD3	254065	broad.mit.edu	36	X	79835144	79835144	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:79835144G>A	uc004edt.2	-	c.3214C>T	c.(3214-3216)CCT>TCT	p.P1072S	BRWD3_uc010nmi.1_Non-coding_Transcript|BRWD3_uc004edo.2_Missense_Mutation_p.P668S|BRWD3_uc004edp.2_Missense_Mutation_p.P901S|BRWD3_uc004edq.2_Missense_Mutation_p.P668S|BRWD3_uc010nmj.1_Missense_Mutation_p.P668S|BRWD3_uc004edr.2_Missense_Mutation_p.P742S|BRWD3_uc004eds.2_Missense_Mutation_p.P668S|BRWD3_uc004edu.2_Missense_Mutation_p.P742S|BRWD3_uc004edv.2_Missense_Mutation_p.P668S|BRWD3_uc004edw.2_Missense_Mutation_p.P668S|BRWD3_uc004edx.2_Missense_Mutation_p.P668S|BRWD3_uc004edy.2_Missense_Mutation_p.P668S|BRWD3_uc004edz.2_Missense_Mutation_p.P742S|BRWD3_uc004eea.2_Missense_Mutation_p.P742S|BRWD3_uc004eeb.2_Missense_Mutation_p.P668S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1072										ovary(4)	4														0.23545	195.553977	219.706064	89	289	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79835144	79835144	1557	23	G	A	A	42	42	BRWD3	A	2	2
BRWD3	254065	broad.mit.edu	36	X	79861734	79861734	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:79861734T>G	uc004edt.2	-	c.1954A>C	c.(1954-1956)AGG>CGG	p.R652R	BRWD3_uc010nmi.1_Non-coding_Transcript|BRWD3_uc004edo.2_Silent_p.R248R|BRWD3_uc004edp.2_Silent_p.R481R|BRWD3_uc004edq.2_Silent_p.R248R|BRWD3_uc010nmj.1_Silent_p.R248R|BRWD3_uc004edr.2_Silent_p.R322R|BRWD3_uc004eds.2_Silent_p.R248R|BRWD3_uc004edu.2_Silent_p.R322R|BRWD3_uc004edv.2_Silent_p.R248R|BRWD3_uc004edw.2_Silent_p.R248R|BRWD3_uc004edx.2_Silent_p.R248R|BRWD3_uc004edy.2_Silent_p.R248R|BRWD3_uc004edz.2_Silent_p.R322R|BRWD3_uc004eea.2_Silent_p.R322R|BRWD3_uc004eeb.2_Silent_p.R248R	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	652										ovary(4)	4														0.276699	145.611393	154.918547	57	149	TT		KEEP	---	---	---	---	capture			Silent	SNP	79861734	79861734	1557	23	T	G	G	55	55	BRWD3	G	4	4
BRWD3	254065	broad.mit.edu	36	X	79864922	79864922	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:79864922G>A	uc004edt.2	-	c.1671C>T	c.(1669-1671)TTC>TTT	p.F557F	BRWD3_uc004edo.2_Silent_p.F153F|BRWD3_uc004edp.2_Silent_p.F386F|BRWD3_uc004edq.2_Silent_p.F153F|BRWD3_uc010nmj.1_Silent_p.F153F|BRWD3_uc004edr.2_Silent_p.F227F|BRWD3_uc004eds.2_Silent_p.F153F|BRWD3_uc004edu.2_Silent_p.F227F|BRWD3_uc004edv.2_Silent_p.F153F|BRWD3_uc004edw.2_Silent_p.F153F|BRWD3_uc004edx.2_Silent_p.F153F|BRWD3_uc004edy.2_Silent_p.F153F|BRWD3_uc004edz.2_Silent_p.F227F|BRWD3_uc004eea.2_Silent_p.F227F|BRWD3_uc004eeb.2_Silent_p.F153F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	557										ovary(4)	4														0.349315	135.470965	138.400641	51	95	GG		KEEP	---	---	---	---	capture			Silent	SNP	79864922	79864922	1557	23	G	A	A	41	41	BRWD3	A	2	2
BRWD3	254065	broad.mit.edu	36	X	79935895	79935895	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:79935895G>A	uc004edt.2	-	c.213C>T	c.(211-213)TAC>TAT	p.Y71Y	BRWD3_uc004edo.2_Intron|BRWD3_uc004edp.2_5'UTR|BRWD3_uc004edq.2_Intron|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_Intron|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_Intron|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_Intron|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_Intron|BRWD3_uc004eeb.2_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	71										ovary(4)	4														0.210526	39.948488	47.314325	20	75	GG		KEEP	---	---	---	---	capture			Silent	SNP	79935895	79935895	1557	23	G	A	A	44	44	BRWD3	A	2	2
CYLC1	1538	broad.mit.edu	36	X	83013236	83013236	+	Splice_Site_SNP	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:83013236T>C	uc004eei.1	+	c.177_splice	c.e3+2	p.T59_splice	CYLC1_uc004eeh.1_Splice_Site_SNP_p.T58_splice	NM_021118	NP_066941			cylicin, basic protein of sperm head						cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5														0.514851	183.910624	183.93039	52	49	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	83013236	83013236	4306	23	T	C	C	57	57	CYLC1	C	5	4
HDX	139324	broad.mit.edu	36	X	83611009	83611009	+	Silent	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:83611009T>G	uc004eek.1	-	c.378A>C	c.(376-378)ACA>ACC	p.T126T	HDX_uc004eel.1_Silent_p.T68T	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	126					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						Pancreas(53;231 1169 36156 43751 51139)								0.566434	565.225838	566.318973	162	124	TT		KEEP	---	---	---	---	capture			Silent	SNP	83611009	83611009	7309	23	T	G	G	55	55	HDX	G	4	4
APOOL	139322	broad.mit.edu	36	X	84215951	84215951	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84215951G>A	uc004eem.1	+	c.616G>A	c.(616-618)GAA>AAA	p.E206K	APOOL_uc010nmp.1_Intron	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like	206						extracellular region					0														0.294872	56.794737	59.73151	23	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84215951	84215951	825	23	G	A	A	37	37	APOOL	A	1	1
SATL1	340562	broad.mit.edu	36	X	84249725	84249725	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84249725C>A	uc004een.1	-	c.345G>T	c.(343-345)AGG>AGT	p.R115S		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like	115	Gln-rich.						N-acetyltransferase activity			breast(2)	2														0.273256	113.254819	121.221857	47	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84249725	84249725	14336	23	C	A	A	26	26	SATL1	A	3	3
SATL1	340562	broad.mit.edu	36	X	84250045	84250045	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84250045G>T	uc004een.1	-	c.25C>A	c.(25-27)CCA>ACA	p.P9T		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like	9	Gln-rich.						N-acetyltransferase activity			breast(2)	2														0.241206	116.799692	128.960088	48	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84250045	84250045	14336	23	G	T	T	44	44	SATL1	T	3	3
POF1B	79983	broad.mit.edu	36	X	84448866	84448866	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84448866C>A	uc004ees.2	-	c.1123G>T	c.(1123-1125)GAA>TAA	p.E375*	POF1B_uc004eer.2_Nonsense_Mutation_p.E375*	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	375	Potential.						actin binding				0														0.307692	58.76397	61.339484	24	54	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	84448866	84448866	12610	23	C	A	A	32	32	POF1B	A	5	3
POF1B	79983	broad.mit.edu	36	X	84493076	84493076	+	Missense_Mutation	SNP	A	G	G			TCGA-06-5416-01	TCGA-06-5416-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84493076A>G	uc004ees.2	-	c.476T>C	c.(475-477)TTC>TCC	p.F159S	POF1B_uc004eer.2_Missense_Mutation_p.F159S	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	159							actin binding				0														0.313131	101.294408	104.368341	31	68	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84493076	84493076	12610	23	A	G	G	9	9	POF1B	G	4	4
KAL1	3730	broad.mit.edu	36	X	8496278	8496278	+	Missense_Mutation	SNP	T	G	G			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:8496278T>G	uc004csf.1	-	c.1202A>C	c.(1201-1203)AAC>ACC	p.N401T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	401					axon guidance|cell adhesion|cellular component movement	cell surface|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4														0.569444	145.487786	145.791127	41	31	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8496278	8496278	8278	23	T	G	G	60	60	KAL1	G	4	4
CPXCR1	53336	broad.mit.edu	36	X	87895606	87895606	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:87895606G>A	uc004efd.2	+	c.535G>A	c.(535-537)GCA>ACA	p.A179T	CPXCR1_uc004efc.2_Missense_Mutation_p.A179T|CPXCR1_uc010nms.1_Missense_Mutation_p.A179T	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	179						intracellular	zinc ion binding			ovary(3)	3														0.318966	97.432211	100.811943	37	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87895606	87895606	3975	23	G	A	A	34	34	CPXCR1	A	2	2
TGIF2LX	90316	broad.mit.edu	36	X	89064265	89064265	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:89064265G>A	uc004efe.1	+	c.525G>A	c.(523-525)CCG>CCA	p.P175P	TGIF2LX_uc010nmt.1_Silent_p.P175P	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	175					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.52381	97.87846	97.909856	33	30	GG		KEEP	---	---	---	---	capture			Silent	SNP	89064265	89064265	16355	23	G	A	A	39	39	TGIF2LX	A	1	1
FAM9B	171483	broad.mit.edu	36	X	8957368	8957368	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:8957368C>T	uc004csi.1	-	c.373G>A	c.(373-375)GGA>AGA	p.G125R	FAM9B_uc004csj.1_Missense_Mutation_p.G125R|FAM9B_uc004csh.1_Missense_Mutation_p.G165R	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	125						nucleus					0		Hepatocellular(5;0.219)												0.410959	88.736357	89.241713	30	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8957368	8957368	5896	23	C	T	T	22	22	FAM9B	T	2	2
NAP1L3	4675	broad.mit.edu	36	X	92813758	92813758	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:92813758C>T	uc004efq.1	-	c.1202G>A	c.(1201-1203)GGC>GAC	p.G401D	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	401					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2														0.298246	40.654211	42.727646	17	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92813758	92813758	10554	23	C	T	T	26	26	NAP1L3	T	2	2
TBL1X	6907	broad.mit.edu	36	X	9637678	9637678	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:9637678G>A	uc010ndq.1	+	c.1317G>A	c.(1315-1317)TGG>TGA	p.W439*	TBL1X_uc004csq.2_Nonsense_Mutation_p.W388*|TBL1X_uc010ndr.1_Nonsense_Mutation_p.W388*|TBL1X_uc004csr.1_Nonsense_Mutation_p.W439*|TBL1X_uc004css.1_Nonsense_Mutation_p.W390*	NM_005647	NP_005638	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	439	WD 5.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|promoter binding|protein C-terminus binding|protein domain specific binding|transcription activator activity|transcription corepressor activity|transcription factor binding			ovary(1)	1		Hepatocellular(5;0.000888)										OREG0019658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.313433	51.084748	53.200582	21	46	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	9637678	9637678	16165	23	G	A	A	41	41	TBL1X	A	5	2
SHROOM2	357	broad.mit.edu	36	X	9822974	9822974	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:9822974G>T	uc004csu.1	+	c.1026G>T	c.(1024-1026)GAG>GAT	p.E342D		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	342					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)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	6		Hepatocellular(5;0.000888)												0.253521	39.71085	43.631173	18	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9822974	9822974	14789	23	G	T	T	35	35	SHROOM2	T	3	3
SHROOM2	357	broad.mit.edu	36	X	9824718	9824718	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:9824718T>C	uc004csu.1	+	c.2770T>C	c.(2770-2772)TCC>CCC	p.S924P		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	924					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)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	6		Hepatocellular(5;0.000888)												0.4	23.29452	23.469702	8	12	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9824718	9824718	14789	23	T	C	C	58	58	SHROOM2	C	4	4
SHROOM2	357	broad.mit.edu	36	X	9865204	9865204	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:9865204G>A	uc004csu.1	+	c.3618G>A	c.(3616-3618)ACG>ACA	p.T1206T	SHROOM2_uc004csv.1_Silent_p.T41T|SHROOM2_uc004csw.1_Silent_p.T41T	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1206					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)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	6		Hepatocellular(5;0.000888)												0.238095	11.465534	12.780828	5	16	GG		KEEP	---	---	---	---	capture			Silent	SNP	9865204	9865204	14789	23	G	A	A	39	39	SHROOM2	A	1	1
SHROOM2	357	broad.mit.edu	36	X	9865680	9865680	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:9865680G>T	uc004csu.1	+	c.4094G>T	c.(4093-4095)AGG>ATG	p.R1365M	SHROOM2_uc004csv.1_Missense_Mutation_p.R200M|SHROOM2_uc004csw.1_Missense_Mutation_p.R200M	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1365	ASD2.				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)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	6		Hepatocellular(5;0.000888)												0.210526	16.322627	19.237607	8	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9865680	9865680	14789	23	G	T	T	35	35	SHROOM2	T	3	3
PCDH19	57526	broad.mit.edu	36	X	99492318	99492318	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99492318C>T	uc010nmz.1	-	c.2657G>A	c.(2656-2658)CGA>CAA	p.R886Q	PCDH19_uc004efw.2_Missense_Mutation_p.R839Q|PCDH19_uc004efx.2_Missense_Mutation_p.R839Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	886	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.590164	109.307224	109.740164	36	25	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99492318	99492318	11934	23	C	T	T	31	31	PCDH19	T	1	1
PCDH19	57526	broad.mit.edu	36	X	99544272	99544272	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99544272C>T	uc010nmz.1	-	c.2522G>A	c.(2521-2523)CGC>CAC	p.R841H	PCDH19_uc004efw.2_Missense_Mutation_p.R794H|PCDH19_uc004efx.2_Missense_Mutation_p.R794H	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	841	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.561798	140.14407	140.438659	50	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99544272	99544272	11934	23	C	T	T	27	27	PCDH19	T	1	1
PCDH19	57526	broad.mit.edu	36	X	99548270	99548270	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5416-01	TCGA-06-5416-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99548270T>C	uc010nmz.1	-	c.1982A>G	c.(1981-1983)TAC>TGC	p.Y661C	PCDH19_uc004efw.2_Missense_Mutation_p.Y661C|PCDH19_uc004efx.2_Missense_Mutation_p.Y661C	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	661	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.240964	53.769394	58.843007	20	63	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99548270	99548270	11934	23	T	C	C	57	57	PCDH19	C	4	4
PCDH19	57526	broad.mit.edu	36	X	99548571	99548571	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99548571G>T	uc010nmz.1	-	c.1681C>A	c.(1681-1683)CCG>ACG	p.P561T	PCDH19_uc004efw.2_Missense_Mutation_p.P561T|PCDH19_uc004efx.2_Missense_Mutation_p.P561T	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	561	Cadherin 5.|Extracellular (Potential).		P -> R (in EIEE9).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.211712	87.501618	104.573091	47	175	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99548571	99548571	11934	23	G	T	T	43	43	PCDH19	T	3	3
PCDH19	57526	broad.mit.edu	36	X	99549043	99549043	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99549043G>A	uc010nmz.1	-	c.1209C>T	c.(1207-1209)TCC>TCT	p.S403S	PCDH19_uc004efw.2_Silent_p.S403S|PCDH19_uc004efx.2_Silent_p.S403S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	403	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.294872	186.277008	195.090603	69	165	GG		KEEP	---	---	---	---	capture			Silent	SNP	99549043	99549043	11934	23	G	A	A	47	47	PCDH19	A	2	2
TNMD	64102	broad.mit.edu	36	X	99735562	99735562	+	Silent	SNP	G	A	A			TCGA-06-5416-01	TCGA-06-5416-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99735562G>A	uc004efy.2	+	c.195G>A	c.(193-195)GAG>GAA	p.E65E	TNMD_uc004efz.2_Silent_p.E65E	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	tenomodulin	65	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1														0.31694	156.471267	161.931672	58	125	GG		KEEP	---	---	---	---	capture			Silent	SNP	99735562	99735562	16863	23	G	A	A	34	34	TNMD	A	2	2
SRPX2	27286	broad.mit.edu	36	X	99808992	99808992	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99808992C>T	uc004egb.1	+	c.1027C>T	c.(1027-1029)CGA>TGA	p.R343*		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	343					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2														0.267123	87.252398	94.410296	39	107	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	99808992	99808992	15679	23	C	T	T	27	27	SRPX2	T	5	1
SRPX2	27286	broad.mit.edu	36	X	99810994	99810994	+	Silent	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99810994C>T	uc004egb.1	+	c.1189C>T	c.(1189-1191)CTG>TTG	p.L397L		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	397					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2														0.339623	51.331964	52.53797	18	35	CC		KEEP	---	---	---	---	capture			Silent	SNP	99810994	99810994	15679	23	C	T	T	28	28	SRPX2	T	2	2
CSTF2	1478	broad.mit.edu	36	X	99974944	99974944	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99974944C>T	uc010nnd.1	+	c.1387C>T	c.(1387-1389)CGT>TGT	p.R463C	CSTF2_uc004egh.1_Missense_Mutation_p.R443C|CSTF2_uc004egi.1_Missense_Mutation_p.R426C	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	443	12 X 5 AA tandem repeats of M-E-A-R-[AG].|7.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding				0														0.744681	106.839273	109.390804	35	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99974944	99974944	4125	23	C	T	T	31	31	CSTF2	T	1	1
NOX1	27035	broad.mit.edu	36	X	99991045	99991045	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5416-01	TCGA-06-5416-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99991045C>A	uc004egj.1	-	c.1323G>T	c.(1321-1323)GAG>GAT	p.E441D	NOX1_uc004egl.2_Intron|NOX1_uc010nne.1_Missense_Mutation_p.E404D	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	441	Interaction with NOXO1.|Cytoplasmic (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|NADP metabolic process|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|NADP binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1														0.315789	56.862961	59.162366	24	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99991045	99991045	10960	23	C	A	A	32	32	NOX1	A	3	3
CCDC147	159686	broad.mit.edu	36	10	106129918	106129919	+	Frame_Shift_Ins	INS	-	A	A			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106129918_106129919insA	uc001kyh.1	+	c.1315_1316insA	c.(1315-1317)GAAfs	p.E439fs		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	439	Potential.									ovary(2)|central_nervous_system(1)	3		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)										0.41			52	76				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	106129918	106129919	2901	10	-	A	A	41	41	CCDC147	A	5	5
OR51G1	79324	broad.mit.edu	36	11	4901885	4901886	+	Frame_Shift_Ins	INS	-	A	A			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4901885_4901886insA	uc001lzs.1	-	c.260_261insT	c.(259-261)TTCfs	p.F87fs		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.44			56	72				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	4901885	4901886	11508	11	-	A	A	33	33	OR51G1	A	5	5
DCHS1	8642	broad.mit.edu	36	11	6610398	6610399	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6610398_6610399delCC	uc001mem.1	-	c.2920_2921delGG	c.(2920-2922)GGCfs	p.G974fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	974	Cadherin 9.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.36			5	9				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	6610398	6610399	4458	11	CC	-	-	26	26	DCHS1	-	5	5
ENDOD1	23052	broad.mit.edu	36	11	94501725	94501726	+	Frame_Shift_Ins	INS	-	A	A			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94501725_94501726insA	uc001pfh.2	+	c.837_838insA	c.(835-840)ATGAAAfs	p.M279fs		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1	279_280						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)												0.40			71	106				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	94501725	94501726	5307	11	-	A	A	45	45	ENDOD1	A	5	5
C15orf40	123207	broad.mit.edu	36	15	81465371	81465372	+	Frame_Shift_Ins	INS	-	T	T			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81465371_81465372insT	uc002bjm.1	-	c.362_363insA	c.(361-363)AAGfs	p.K121fs		NM_144597	NP_653198	Q8WUR7	CO040_HUMAN	hypothetical protein LOC123207	121											0														0.38			115	189				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	81465371	81465372	1844	15	-	T	T	24	24	C15orf40	T	5	5
NCOR1	9611	broad.mit.edu	36	17	15970181	15970182	+	Frame_Shift_Ins	INS	-	T	T			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:15970181_15970182insT	uc002gpo.1	-	c.1573_1574insA	c.(1573-1575)ACAfs	p.T525fs	NCOR1_uc002gpn.1_Frame_Shift_Ins_p.T525fs|NCOR1_uc002gpp.1_Frame_Shift_Ins_p.T416fs|NCOR1_uc002gpr.2_Frame_Shift_Ins_p.T416fs|NCOR1_uc002gps.1_Frame_Shift_Ins_p.T534fs|NCOR1_uc010coz.1_Frame_Shift_Ins_p.T341fs|NCOR1_uc010cpa.1_Frame_Shift_Ins_p.T526fs|NCOR1_uc010cpb.1_Frame_Shift_Ins_p.T535fs	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	525	Potential.				cellular lipid metabolic process|chromatin modification|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of JNK cascade|regulation of fatty acid transport|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	spindle microtubule|transcriptional repressor complex	histone deacetylase binding|promoter binding|transcription corepressor activity			ovary(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)										0.40			27	40				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	15970181	15970182	10634	17	-	T	T	48	48	NCOR1	T	5	5
CDC27	996	broad.mit.edu	36	17	42564672	42564673	+	Frame_Shift_Ins	INS	-	T	T			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42564672_42564673insT	uc002ile.2	-	c.1998_1999insA	c.(1996-2001)AAAGCGfs	p.K666fs	CDC27_uc002ild.2_Frame_Shift_Ins_p.K660fs|CDC27_uc002ilf.2_Frame_Shift_Ins_p.K659fs	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 1	660_661	TPR 6.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein binding			lung(2)|breast(2)|ovary(1)	5														0.37			76	131				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	42564672	42564673	3194	17	-	T	T	28	28	CDC27	T	5	5
CEP192	55125	broad.mit.edu	36	18	13077133	13077134	+	Frame_Shift_Ins	INS	-	T	T			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13077133_13077134insT	uc002krt.1	+	c.3946_3947insT	c.(3946-3948)GTTfs	p.V1316fs	CEP192_uc002kru.1_Non-coding_Transcript|CEP192_uc002krv.1_Frame_Shift_Ins_p.V334fs|CEP192_uc002krw.1_Frame_Shift_Ins_p.V61fs|CEP192_uc002krx.1_5'UTR|CEP192_uc002kry.1_5'Flank|CEP192_uc010dlf.1_Non-coding_Transcript	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1912										ovary(4)|pancreas(1)	5														0.37			92	154				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	13077133	13077134	3384	18	-	T	T	48	48	CEP192	T	5	5
DSG1	1828	broad.mit.edu	36	18	27173757	27173758	+	Frame_Shift_Ins	INS	-	G	G			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:27173757_27173758insG	uc002kwp.1	+	c.1458_1459insG	c.(1456-1461)TTTGGTfs	p.F486fs		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	486_487	Extracellular (Potential).|Cadherin 4.				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			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.46			94	110				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	27173757	27173758	4960	18	-	G	G	63	63	DSG1	G	5	5
ANKRD12	23253	broad.mit.edu	36	18	9247928	9247929	+	Frame_Shift_Ins	INS	-	A	A			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:9247928_9247929insA	uc002knv.2	+	c.4663_4664insA	c.(4663-4665)CAAfs	p.Q1555fs	ANKRD12_uc002knw.2_Frame_Shift_Ins_p.Q1532fs|ANKRD12_uc002knx.2_Frame_Shift_Ins_p.Q1532fs|ANKRD12_uc010dkx.1_Frame_Shift_Ins_p.Q1262fs	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1555						nucleus				ovary(2)|central_nervous_system(1)	3														0.42			73	102				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	9247928	9247929	643	18	-	A	A	29	29	ANKRD12	A	5	5
C1orf14	81626	broad.mit.edu	36	1	181135845	181135846	+	Frame_Shift_Ins	INS	-	T	T			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181135845_181135846insT	uc001gpu.1	-	c.1857_1858insA	c.(1855-1860)AAAGATfs	p.K619fs	C1orf14_uc001gpv.1_Frame_Shift_Ins_p.K500fs|C1orf14_uc001gpw.1_Frame_Shift_Ins_p.K339fs	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	691_692											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)										0.59			63	43				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	181135845	181135846	2067	1	-	T	T	32	32	C1orf14	T	5	5
TGFB2	7042	broad.mit.edu	36	1	216675993	216675994	+	Frame_Shift_Ins	INS	-	A	A			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216675993_216675994insA	uc001hln.1	+	c.897_898insA	c.(895-900)AGGAAAfs	p.R299fs	TGFB2_uc001hlm.1_Frame_Shift_Ins_p.R271fs|TGFB2_uc001hlo.1_Intron	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	271_272					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)						137				0.35			78	144				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	216675993	216675994	16346	1	-	A	A	41	41	TGFB2	A	5	5
PLCB1	23236	broad.mit.edu	36	20	8576595	8576596	+	Frame_Shift_Ins	INS	-	A	A			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8576595_8576596insA	uc002wnb.1	+	c.513_514insA	c.(511-516)CTCAAAfs	p.L171fs	PLCB1_uc010gbv.1_Frame_Shift_Ins_p.L171fs|PLCB1_uc002wmz.1_Frame_Shift_Ins_p.L171fs|PLCB1_uc002wna.1_Frame_Shift_Ins_p.L171fs|PLCB1_uc002wnc.1_Frame_Shift_Ins_p.L70fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	171_172					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 gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|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|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.37			107	179				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	8576595	8576596	12453	20	-	A	A	29	29	PLCB1	A	5	5
MCCC1	56922	broad.mit.edu	36	3	184292953	184292954	+	Frame_Shift_Ins	INS	-	T	T			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184292953_184292954insT	uc003fle.1	-	c.210_211insA	c.(208-213)AAACTGfs	p.K70fs	MCCC1_uc010hxi.1_Non-coding_Transcript|MCCC1_uc003flf.1_Intron|MCCC1_uc003flg.1_Intron	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	70_71	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)									0.32			62	133				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	184292953	184292954	9763	3	-	T	T	36	36	MCCC1	T	5	5
SVEP1	79987	broad.mit.edu	36	9	112232514	112232515	+	Frame_Shift_Ins	INS	-	T	T			TCGA-06-5416-01	TCGA-06-5416-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:112232514_112232515insT	uc010mtz.1	-	c.5390_5391insA	c.(5389-5391)AATfs	p.N1797fs	SVEP1_uc010mty.1_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1797	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.59			33	23				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	112232514	112232515	15940	9	-	T	T	8	8	SVEP1	T	5	5
